diff --git a/config/cab_external_dataset_targets.yml b/config/cab_external_dataset_targets.yml new file mode 100644 index 0000000..ece924c --- /dev/null +++ b/config/cab_external_dataset_targets.yml @@ -0,0 +1,96 @@ +# CAB external dataset target manifest +# +# Purpose: +# Track external phenotype/death/family-history anchors without pretending they +# form one unified patient-level cohort. +# +# Categories: +# variant_death_anchor -> variant + sudden death / SCD literature context +# variant_family_anchor -> variant + family-history or cascade context +# phenotype_death_anchor -> ECG/Holter/clinical phenotype + death outcome, no genetics +# phenotype_only_anchor -> ECG phenotype without death/genetics +# closed_registry_reference -> strong clinical dataset, not downloadable now + +svad: + label: "SVAD / SCD-associated Variants Annotation Database" + category: "variant_death_anchor" + priority: "must_have_if_available" + expected_local_names: + - "data/raw/svad.tsv" + - "data/raw/svad.csv" + - "data/raw/svad.xlsx" + notes: "Variant-level SCD/death-context anchor. Original domain may be unavailable; manual mirror/supplement search may be required." + +color_data_v2: + label: "Color Data v2 / Color Genomics family-history anchor" + category: "variant_family_anchor" + priority: "candidate_if_public_table_found" + expected_local_names: + - "data/raw/color_data_v2.tsv" + - "data/raw/color_data_v2.csv" + - "data/raw/color_data_v2.xlsx" + notes: "Use only if a real public variant/family-history table is found. Do not use marketing pages or aggregate-only reports as data." + +physionet_scd_holter: + label: "PhysioNet Sudden Cardiac Death Holter Database" + category: "phenotype_death_anchor" + priority: "metadata_only_optional" + url_base: "https://physionet.org/files/sddb/1.0.0/" + small_files: + - "RECORDS" + - "ANNOTATORS" + - "SHA256SUMS.txt" + expected_local_dir: "data/raw/physionet_scd_holter" + notes: "Use as phenotype/death environment reference. Do not download waveform records unless doing signal processing." + +mit_bih_arrhythmia: + label: "MIT-BIH Arrhythmia Database" + category: "phenotype_only_anchor" + priority: "environment_reference_optional" + url_base: "https://physionet.org/files/mitdb/1.0.0/" + small_files: + - "RECORDS" + - "ANNOTATORS" + - "SHA256SUMS.txt" + expected_local_dir: "data/raw/mit_bih_arrhythmia" + notes: "Phenotype-observed ECG pole. No genetics and no death outcome." + +music: + label: "MUSIC SCD heart-failure cohort" + category: "phenotype_death_anchor" + priority: "already_integrated" + url_base: "https://physionet.org/files/music-sudden-cardiac-death/1.0.1/" + small_files: + - "subject-info.csv" + - "subject-info_codes.csv" + - "subject-info_definitions.csv" + expected_local_dir: "data/raw/music" + notes: "Already used as phenotype-first electrical-risk anchor. Do not download 43GB ZIP." + +lqts_lovd: + label: "Historical LQTS LOVD" + category: "variant_phenotype_anchor" + priority: "only_if_live_export_found" + expected_local_names: + - "data/raw/lqts_lovd.tsv" + - "data/raw/lqts_lovd.csv" + - "data/raw/lqts_lovd.xlsx" + notes: "Old genomed.org endpoint is currently domain-sale page, not data. Use only if a valid export/mirror is found." + +uk_biobank: + label: "UK Biobank" + category: "closed_registry_reference" + priority: "validation_horizon_not_dependency" + notes: "Best single patient-level resource, but controlled access. Treat as future validation horizon, not current dependency." + +ncvc_lqts_registry: + label: "NCVC LQTS Registry" + category: "closed_registry_reference" + priority: "discussion_reference" + notes: "Strong LQTS phenotype/genotype registry. Controlled access through NCVC. Not a current downloadable input." + +canadian_arvc_registry: + label: "Canadian National ARVC Registry" + category: "closed_registry_reference" + priority: "discussion_reference" + notes: "Strong structural-electrical ARVC reference. Controlled access. Use as conceptual support, not pipeline input." diff --git a/data/processed/cab_clinvar_label_mining.csv b/data/processed/cab_clinvar_label_mining.csv new file mode 100644 index 0000000..1dc2136 --- /dev/null +++ b/data/processed/cab_clinvar_label_mining.csv @@ -0,0 +1,1732 @@ +variant_key,gene,clinvar_id,variation_id,title,clinsig,review_status,review_strength,review_score,submitter_count,submitter_count_source,match_category,frequency_evidence_status,variant_type,functional_class,global_af,global_ac,global_an,popmax_af_x,popmax_ac,popmax_population,popmax_global_ratio,max_frequency_signal,max_frequency_source,qualifying_frequency_ac,standard_acmg_frequency_flag,standard_acmg_high_frequency_flag,popmax_only_frequency_flag,frequency_signal_ac_ge_20,weak_review_signal,gene_frequency_constraint_proxy,technical_detectability_index,frequency_pressure_score,ac_reliability_score,popmax_enrichment_score,variant_type_tension_score,technical_detectability_score,gene_constraint_score,review_fragility_score,vital_score,vital_band,vital_red_flag,predicted_revision_direction,vital_signal_reason,variation_id_key,vcv_key,condition_from_variation_id,condition_from_vcv,condition_labels,condition_label_join_source,primary_regime,condition_groups,is_disease_model_collision,is_unanchored_assertion_state,is_canonical_monogenic,condition_entropy,popmax_af_y,clinvar_label_mining_text,label_syncope_flag,label_sudden_death_flag,label_sads_flag,label_cardiac_arrest_flag,label_familial_flag,label_provocation_flag,label_structural_flag,label_channelopathy_flag,label_any_death_context_flag,label_any_symptom_or_context_flag +3:38562456:G:A,SCN5A,VCV000440850,440850,NM_000335.4(SCN5A):c.[3919C>T;694G>A],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,0.0001464876505434,214.0,1460874.0,0.0056763862332695,190.0,afr,38.74992993923283,0.0056763862332695,popmax,214.0,True,True,False,True,True,0.6637931034482759,0.811340206185567,45.0,20.0,7.941354608142989,0.0,6.490721649484536,6.637931034482759,10.0,96.07000729211028,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,440850,440850,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,0.0056763862332695, | nm_000335.4(scn5a):c.[3919c>t;694g>a] | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +6:123438063:CT:C,TRDN,VCV001325231,1325231,NM_006073.4(TRDN):c.1050del (p.Glu351fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.774748677138568e-05,40.0,1441572.0,0.0002182135583357,9.0,amr,7.864263645544536,0.0002182135583357,popmax,40.0,True,True,False,True,True,0.390625,0.6043553875236295,30.124838998003188,20.0,4.478290322877946,3.0,4.834843100189036,3.90625,8.0,74.34422242107016,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,1325231,1325231,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0002182135583357,catecholaminergic polymorphic ventricular tachycardia 5 | nm_006073.4(trdn):c.1050del (p.glu351fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 5 | catecholaminergic polymorphic ventricular tachycardia 5 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +7:150950166:A:C,KCNH2,VCV004535537,4535537,NM_000238.4(KCNH2):c.2398+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.367018818211924e-05,24.0,549574.0,0.0001315270288044,2.0,asj,3.0118264259375755,0.0001315270288044,popmax,24.0,True,True,False,True,True,0.8263888888888888,0.811340206185567,25.177837788340284,20.0,2.3941496974878667,0.0,6.490721649484536,8.26388888888889,8.0,70.32659802420157,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,4535537,4535537,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,penetrance_boundary,LQTS,False,False,True,-0.0,0.0001315270288044,long qt syndrome | nm_000238.4(kcnh2):c.2398+2t>g | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +10:18514531:G:T,CACNB2,VCV003774534,3774534,NM_201596.3(CACNB2):c.804+162G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,1.1632028310988434e-05,17.0,1461482.0,0.0001970877388239,17.0,sas,16.943538788860945,0.0001970877388239,popmax,17.0,True,True,False,False,True,0.25,0.811340206185567,29.129841204685352,18.987357242520268,6.145020606115558,0.0,6.490721649484536,2.5,8.0,71.25294070280572,orange_high_tension,False,,popmax_AF_gt_1e-4; global_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.25; detectability=0.81,3774534,3774534,Brugada syndrome 4,Brugada syndrome 4,Brugada syndrome 4,variation_id,ancestry_concentrated,Brugada,False,False,False,-0.0,0.0001970877388239,brugada syndrome 4 | nm_201596.3(cacnb2):c.804+162g>t | brugada | brugada syndrome 4 | brugada syndrome 4 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +6:123547340:CT:C,TRDN,VCV001074440,1074440,NM_006073.4(TRDN):c.423del (p.Glu142fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.4587780046988007e-05,19.0,1302460.0,0.0001336541031809,3.0,amr,9.162058557802116,0.0001336541031809,popmax,19.0,True,True,False,False,False,0.390625,0.6043553875236295,25.33460173620717,19.67948888426708,4.809965315856219,3.0,4.834843100189036,3.90625,3.0,64.5651490365195,yellow_watchlist,False,,popmax_AF_gt_1e-4; global_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,1074440,1074440,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0001336541031809,catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia | nm_006073.4(trdn):c.423del (p.glu142fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia | catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115701413:C:T,CASQ2,VCV002565185,2565185,NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.425131422292673e-06,5.0,1459798.0,0.0001495662578522,5.0,afr,43.667292358899566,0.0001495662578522,popmax,5.0,True,True,True,False,False,0.5125,0.811340206185567,26.43375668955885,11.770381108229664,8.200781319116079,0.0,6.490721649484536,5.125,3.0,61.02064076638913,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=SNV; gene_constraint=0.51; detectability=0.81,2565185,2565185,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0001495662578522,cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.1028g>a (p.trp343ter) | cpvt|arrhythmia | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +7:150950197:A:G,KCNH2,VCV001027323,1027323,NM_000238.4(KCNH2):c.2369T>C (p.Leu790Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,7.213041178450639e-06,9.0,1247740.0,0.0002143163309044,1.0,mid,29.71233587745845,0.0002143163309044,popmax,1.0,True,True,True,False,False,0.8263888888888888,0.811340206185567,29.94874352029472,4.55340497393906,7.364683979114753,0.0,6.490721649484536,8.26388888888889,3.0,59.62144301172195,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=SNV; gene_constraint=0.83; detectability=0.81,1027323,1027323,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id,ancestry_concentrated,LQTS,False,False,True,-0.0,0.0002143163309044,long qt syndrome|long qt syndrome 2 | nm_000238.4(kcnh2):c.2369t>c (p.leu790pro) | lqts | long qt syndrome|long qt syndrome 2 | long qt syndrome|long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +6:123529317:C:T,TRDN,VCV002635811,2635811,NM_006073.4(TRDN):c.484+1189G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,5.012186774127951e-06,7.0,1396596.0,0.000112101339611,4.0,amr,22.36575037943466,0.000112101339611,popmax,4.0,True,True,True,False,True,0.390625,0.811340206185567,23.616243142180487,10.57267893638896,6.747917367491054,0.0,6.490721649484536,3.90625,8.0,59.33381109554504,yellow_watchlist,False,,popmax_AF_gt_1e-4; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,2635811,2635811,TRDN-related disorder,TRDN-related disorder,TRDN-related disorder,variation_id,disease_model_collision,CPVT|SADS,True,False,False,1.0,0.000112101339611,trdn-related disorder | nm_006073.4(trdn):c.484+1189g>a | cpvt|sads | trdn-related disorder | trdn-related disorder | variation_id | true | 1.0,False,False,True,False,False,False,False,False,True,True +7:150948439:CTCA:C,KCNH2,VCV003076015,3076015,NM_000238.4(KCNH2):c.2692+2_2692+4del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,2.7727944499746288e-06,4.0,1442588.0,6.611424541607899e-05,3.0,fin,23.84389602799007,6.611424541607899e-05,popmax,3.0,True,False,True,False,True,0.8263888888888888,0.6043553875236295,18.456638672735043,9.10680994787812,6.886886097038535,3.0,4.834843100189036,8.26388888888889,8.0,58.54906670672962,yellow_watchlist,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3076015,3076015,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,ancestry_concentrated,LQTS,False,False,True,-0.0,6.611424541607899e-05,congenital long qt syndrome | nm_000238.4(kcnh2):c.2692+2_2692+4del | lqts | congenital long qt syndrome | congenital long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +1:115705205:TC:T,CASQ2,VCV001766367,1766367,NM_001232.4(CASQ2):c.925del (p.Asp309fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84958717538094e-07,1.0,1459942.0,0.0001734906315058,1.0,mid,253.28589121907208,0.0001734906315058,popmax,1.0,True,True,True,False,False,0.5125,0.6043553875236295,27.88371068312418,4.55340497393906,10.0,3.0,4.834843100189036,5.125,3.0,58.39695875725227,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=deletion; gene_constraint=0.51; detectability=0.60,1766367,1766367,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0001734906315058,cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.925del (p.asp309fs) | cpvt|arrhythmia | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +11:2587679:AG:A,KCNQ1,VCV001395670,1395670,NM_000218.3(KCNQ1):c.1239del (p.Lys414fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.737022748764577e-06,4.0,1461442.0,8.944543828264758e-05,4.0,amr,32.67981847911294,8.944543828264758e-05,popmax,4.0,True,False,True,False,False,0.6403508771929824,0.6043553875236295,21.41005952936268,10.57267893638896,7.571398177836384,3.0,4.834843100189036,6.4035087719298245,3.0,56.79248851570687,yellow_watchlist,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.64; detectability=0.60,1395670,1395670,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,8.944543828264758e-05,long qt syndrome|cardiac arrhythmia | nm_000218.3(kcnq1):c.1239del (p.lys414fs) | lqts|arrhythmia | long qt syndrome|cardiac arrhythmia | long qt syndrome|cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +6:123516188:TC:T,TRDN,VCV002682850,2682850,NM_006073.4(TRDN):c.502del (p.Glu168fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.751489341268484e-06,5.0,1332804.0,6.617783307303386e-05,5.0,sas,17.64041169053291,6.617783307303386e-05,popmax,5.0,True,False,True,False,True,0.390625,0.6043553875236295,18.46603235431506,11.770381108229664,6.232543582221728,3.0,4.834843100189036,3.90625,8.0,56.21005014495549,yellow_watchlist,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,2682850,2682850,,,,unmatched,disease_model_collision,CPVT|SADS,True,False,False,1.0,6.617783307303386e-05, | nm_006073.4(trdn):c.502del (p.glu168fs) | cpvt|sads | | | unmatched | true | 1.0,False,False,True,False,False,False,False,False,True,True +6:123516150:C:A,TRDN,VCV001427034,1427034,NM_006073.4(TRDN):c.541G>T (p.Glu181Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.79663424697027e-05,91.0,1338898.0,8.552347090760583e-05,89.0,nfe,1.2583209209383106,8.552347090760583e-05,popmax,91.0,True,False,False,True,False,0.390625,0.811340206185567,20.9719197711187,20.0,0.4989570863816855,0.0,6.490721649484536,3.90625,3.0,54.86784850698492,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,1427034,1427034,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,8.552347090760583e-05,cardiovascular phenotype||catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 5 | nm_006073.4(trdn):c.541g>t (p.glu181ter) | cpvt|arrhythmia | cardiovascular phenotype||catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 5 | cardiovascular phenotype||catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 5 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +3:38580945:C:A,SCN5A,VCV003075756,3075756,NM_000335.5(SCN5A):c.3214G>T (p.Glu1072Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.068392073370004e-06,3.0,1450402.0,6.006366748753679e-05,2.0,afr,29.03880759457191,6.006366748753679e-05,popmax,2.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,17.518766713295044,7.216976134290603,7.314893895930626,0.0,6.490721649484536,6.637931034482759,8.0,53.17928942748357,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3075756,3075756,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,False,False,-0.0,6.006366748753679e-05,brugada syndrome | nm_000335.5(scn5a):c.3214g>t (p.glu1072ter) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +6:123636725:T:C,TRDN,VCV001070395,1070395,NM_006073.4(TRDN):c.22+29A>G,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,5.278376069899409e-05,77.0,1458782.0,6.756756756756757e-05,75.0,nfe,1.2800824797762609,6.756756756756757e-05,popmax,77.0,True,False,False,True,False,0.390625,0.811340206185567,18.66911154823352,20.0,0.5361897676051981,0.0,6.490721649484536,3.90625,3.0,52.60227296532325,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,1070395,1070395,Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,6.756756756756757e-05,catecholaminergic polymorphic ventricular tachycardia 5|cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 5;catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.22+29a>g | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 5|cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 5;catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 5|cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 5;catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115768378:T:C,CASQ2,VCV000427946,427946,NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,3.078341745187184e-05,45.0,1461826.0,4.9675453702477146e-05,3.0,remaining,1.6137081974876168,4.9675453702477146e-05,popmax,45.0,True,False,False,True,False,0.5125,0.811340206185567,15.663191649724624,20.0,1.0391250259135152,0.0,6.490721649484536,5.125,3.0,51.31803832512267,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.51; detectability=0.81,427946,427946,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,4.9675453702477146e-05,catecholaminergic polymorphic ventricular tachycardia 2|cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.164a>g (p.tyr55cys) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 2|cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 2|cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +11:2768920:G:A,KCNQ1,VCV000871731,871731,NM_000218.3(KCNQ1):c.1590+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.053657975586114e-06,3.0,1460808.0,6.709308046696784e-05,3.0,amr,32.6700208089902,6.709308046696784e-05,popmax,3.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,18.600249121064188,9.10680994787812,7.570747055485044,0.0,6.490721649484536,6.4035087719298245,3.0,51.172036545841706,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,871731,871731,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,6.709308046696784e-05,long qt syndrome|cardiac arrhythmia | nm_000218.3(kcnq1):c.1590+1g>a | lqts|arrhythmia | long qt syndrome|cardiac arrhythmia | long qt syndrome|cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +6:123636745:TAGCAATACCTTC:T,TRDN,VCV002051520,2051520,NM_006073.4(TRDN):c.19_22+8del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,1.3703867642564762e-06,2.0,1459442.0,5.052801778586226e-05,2.0,eas,36.871329490654766,5.052801778586226e-05,popmax,2.0,True,False,True,False,True,0.390625,0.6043553875236295,15.829476070387653,7.216976134290603,7.833443987467161,3.0,4.834843100189036,3.90625,8.0,50.62098929233445,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,2051520,2051520,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,5.052801778586226e-05,catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.19_22+8del | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +12:2651596:CT:C,CACNA1C,VCV002632714,2632714,NM_000719.7(CACNA1C):c.3946-43del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,2.0525170701003e-06,3.0,1461620.0,3.747423646243208e-05,2.0,fin,18.257689424678656,3.747423646243208e-05,popmax,2.0,True,False,True,False,True,0.7307692307692307,0.6043553875236295,12.908988100114692,7.216976134290603,6.307229075847438,3.0,4.834843100189036,7.3076923076923075,8.0,49.57572871813407,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.73; detectability=0.60,2632714,2632714,CACNA1C-related disorder,CACNA1C-related disorder,CACNA1C-related disorder,variation_id,disease_model_collision,Brugada|LQTS,True,False,False,1.0,3.747423646243208e-05,cacna1c-related disorder | nm_000719.7(cacna1c):c.3946-43del | brugada|lqts | cacna1c-related disorder | cacna1c-related disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +1:115705191:C:A,CASQ2,VCV000519365,519365,NM_001232.4(CASQ2):c.939+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.1733855056306896e-05,46.0,1449556.0,4.178991663820107e-05,46.0,nfe,1.316887477023001,4.178991663820107e-05,popmax,46.0,True,False,False,True,False,0.5125,0.811340206185567,13.974109092309089,20.0,0.5977433387582941,0.0,6.490721649484536,5.125,3.0,49.18757408055192,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.51; detectability=0.81,519365,519365,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,4.178991663820107e-05,cardiovascular phenotype||catecholaminergic polymorphic ventricular tachycardia 2;catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2|catecholaminergic polymorphic ventricular tachycardia | nm_001232.4(casq2):c.939+1g>t | cpvt|arrhythmia | cardiovascular phenotype||catecholaminergic polymorphic ventricular tachycardia 2;catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2|catecholaminergic polymorphic ventricular tachycardia | cardiovascular phenotype||catecholaminergic polymorphic ventricular tachycardia 2;catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2|catecholaminergic polymorphic ventricular tachycardia | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115705294:T:C,CASQ2,VCV001523438,1523438,NM_001232.4(CASQ2):c.839-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3783198556623447e-06,2.0,1451042.0,4.473272198613286e-05,2.0,amr,32.45450636719618,4.473272198613286e-05,popmax,2.0,True,False,True,False,True,0.5125,0.811340206185567,14.639070048853554,7.216976134290603,7.556375039507466,0.0,6.490721649484536,5.125,8.0,49.02814287213616,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1523438,1523438,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,4.473272198613286e-05,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.839-2a>g | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +3:38608210:AT:A,SCN5A,VCV004756593,4756593,NM_000335.5(SCN5A):c.938del (p.Asn313fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.876056334154334e-07,1.0,1454322.0,3.8337678270203954e-05,1.0,asj,55.75524930551588,3.8337678270203954e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.6043553875236295,13.13158094533609,4.55340497393906,8.731428810358667,3.0,4.834843100189036,6.637931034482759,8.0,48.88918886430561,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,4756593,4756593,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,disease_model_collision,arrhythmia,True,False,False,-0.0,3.8337678270203954e-05,cardiac arrhythmia | nm_000335.5(scn5a):c.938del (p.asn313fs) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +1:115768444:C:T,CASQ2,VCV000862119,862119,NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.0267488613355128e-05,15.0,1460922.0,3.827311696264544e-05,1.0,asj,3.727602306299179,3.827311696264544e-05,popmax,15.0,True,False,False,False,False,0.5125,0.811340206185567,13.115111488979696,18.21361989575624,2.857147858816272,0.0,6.490721649484536,5.125,3.0,48.80160089303674,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,862119,862119,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,3.827311696264544e-05,catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2|catecholaminergic polymorphic ventricular tachycardia | nm_001232.4(casq2):c.98g>a (p.arg33gln) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2|catecholaminergic polymorphic ventricular tachycardia | catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2|catecholaminergic polymorphic ventricular tachycardia | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +11:2570686:G:C,KCNQ1,VCV000378906,378906,NM_000218.3(KCNQ1):c.536G>C (p.Gly179Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.054848002893226e-06,3.0,1459962.0,3.8743171516020304e-05,2.0,fin,18.854510701988296,3.8743171516020304e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,13.234391558868406,7.216976134290603,6.377076332028593,0.0,6.490721649484536,6.4035087719298245,8.0,47.72267444660197,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,378906,378906,,,,unmatched,ancestry_concentrated,LQTS,False,False,True,-0.0,3.8743171516020304e-05, | nm_000218.3(kcnq1):c.536g>c (p.gly179ala) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2445144:GGT:G,KCNQ1,VCV002744490,2744490,NM_000218.3(KCNQ1):c.47_48del (p.Gly16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.0193098049448758e-06,1.0,981056.0,3.807493146512336e-05,1.0,sas,37.35360429852644,3.807493146512336e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,13.064380687913092,4.55340497393906,7.861662569102269,3.0,4.834843100189036,6.4035087719298245,8.0,47.71780010307328,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,2744490,2744490,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,ancestry_concentrated,LQTS,False,False,True,-0.0,3.807493146512336e-05,long qt syndrome | nm_000218.3(kcnq1):c.47_48del (p.gly16fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +4:113355492:C:T,ANK2,VCV004081881,4081881,NM_001148.6(ANK2):c.6874C>T (p.Arg2292Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,1.3682492293336216e-06,2.0,1461722.0,3.8267258533598655e-05,1.0,asj,27.96802712924517,3.8267258533598655e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,13.113615641202188,4.55340497393906,7.233309161120902,0.0,6.490721649484536,6.136363636363637,10.0,47.52741506211032,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,4081881,4081881,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,3.8267258533598655e-05, | nm_001148.6(ank2):c.6874c>t (p.arg2292ter) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +1:115740767:G:A,CASQ2,VCV000801535,801535,NM_001232.4(CASQ2):c.381C>T (p.Gly127=),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,8.897357347985227e-06,13.0,1461108.0,6.707807888382076e-05,3.0,amr,7.5391006251884125,6.707807888382076e-05,popmax,3.0,True,False,True,False,False,0.5125,0.811340206185567,18.59806400383485,9.10680994787812,4.386597699630847,0.0,6.490721649484536,5.125,3.0,46.70719330082835,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,801535,801535,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,6.707807888382076e-05,catecholaminergic polymorphic ventricular tachycardia 2|cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.381c>t (p.gly127=) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 2|cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 2|cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123571097:T:TAAAA,TRDN,VCV001749169,1749169,NM_006073.4(TRDN):c.57_58insTTTT (p.Lys20delinsPheTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,1.573551204040332e-05,23.0,1461662.0,2.9870362626202283e-05,1.0,afr,1.898277072346201,2.9870362626202283e-05,popmax,23.0,True,False,False,True,False,0.390625,0.5866666666666666,10.692911463985178,20.0,1.391798011501853,3.0,4.6933333333333325,3.90625,3.0,46.684292808820366,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=insertion; gene_constraint=0.39; detectability=0.59,1749169,1749169,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,2.9870362626202283e-05,cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.57_58instttt (p.lys20delinspheter) | cpvt|arrhythmia | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +15:73343470:C:T,HCN4,VCV001514023,1514023,NM_005477.3(HCN4):c.1124G>A (p.Arg375His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0521436008006096e-06,3.0,1461886.0,3.744056310606911e-05,2.0,fin,18.24460327574495,3.744056310606911e-05,popmax,2.0,True,False,True,False,True,0.5,0.811340206185567,12.900203628834737,7.216976134290603,6.305672120901788,0.0,6.490721649484536,5.0,8.0,45.91357353351166,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,1514023,1514023,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,ancestry_concentrated,Brugada,False,False,True,-0.0,3.744056310606911e-05,brugada syndrome 8 | nm_005477.3(hcn4):c.1124g>a (p.arg375his) | brugada | brugada syndrome 8 | brugada syndrome 8 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947326:A:G,KCNH2,VCV000373047,373047,NM_000238.4(KCNH2):c.3152+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.203770165153635e-07,1.0,1388162.0,2.8064660978895374e-05,1.0,amr,38.95824322159453,2.8064660978895374e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,10.083595855158398,4.55340497393906,7.952996823120984,0.0,6.490721649484536,8.26388888888889,8.0,45.34460819059187,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,373047,373047,,,,unmatched,ancestry_concentrated,LQTS,False,False,True,-0.0,2.8064660978895374e-05, | nm_000238.4(kcnh2):c.3152+2t>c | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +3:38575364:T:TG,SCN5A,VCV000924057,924057,NM_000335.5(SCN5A):c.3595dup (p.His1199fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.851933821282381e-07,1.0,1459442.0,3.832592365476008e-05,1.0,asj,55.9343824970053,3.832592365476008e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.382680412371134,13.128584433326132,4.55340497393906,8.738394239650557,6.0,3.0614432989690723,6.637931034482759,3.0,45.11975798036759,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.66; detectability=0.38,924057,924057,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,disease_model_collision,arrhythmia,True,False,False,-0.0,3.832592365476008e-05,cardiac arrhythmia | nm_000335.5(scn5a):c.3595dup (p.his1199fs) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +11:2572072:G:GGA,KCNQ1,VCV001455898,1455898,NM_000218.3(KCNQ1):c.745_746dup (p.Leu250fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.84671706763324e-07,1.0,1460554.0,3.828190797029324e-05,1.0,asj,55.91271361066016,3.828190797029324e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,13.117355690081434,4.55340497393906,8.737552851879759,6.0,3.0614432989690723,6.4035087719298245,3.0,44.87326558679914,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,1455898,1455898,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,3.828190797029324e-05,long qt syndrome|cardiac arrhythmia | nm_000218.3(kcnq1):c.745_746dup (p.leu250fs) | lqts|arrhythmia | long qt syndrome|cardiac arrhythmia | long qt syndrome|cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +3:38608150:C:A,SCN5A,VCV002452890,2452890,NM_000335.5(SCN5A):c.998+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.903779266846257e-07,1.0,1448482.0,3.0111412225233363e-05,1.0,afr,43.61577687464475,3.0111412225233363e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,10.77145062355202,4.55340497393906,8.198218062193659,0.0,6.490721649484536,6.637931034482759,8.0,44.65172634365204,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2452890,2452890,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,3.0111412225233363e-05,cardiovascular phenotype | nm_000335.5(scn5a):c.998+1g>t | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +6:123512325:T:TG,TRDN,VCV003673082,3673082,NM_006073.4(TRDN):c.587dup (p.Glu197fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.1833916893360138e-05,16.0,1352046.0,1.5570594154409688e-05,16.0,nfe,1.3157599448231894,1.5570594154409688e-05,popmax,16.0,True,False,False,False,True,0.390625,0.382680412371134,4.3268672904939125,18.61187363214038,0.5958833060079006,6.0,3.0614432989690723,3.90625,8.0,44.50231752761127,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,3673082,3673082,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,1.5570594154409688e-05,catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.587dup (p.glu197fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +11:2572900:T:A,KCNQ1,VCV000375594,375594,NM_000218.3(KCNQ1):c.835T>A (p.Phe279Ile),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,1.3684626827068738e-06,2.0,1461494.0,2.3186792802819512e-05,2.0,sas,16.943667629494662,2.3186792802819512e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,8.217915747967623,7.216976134290603,6.145037118180784,0.0,6.490721649484536,6.4035087719298245,10.0,44.47415942185337,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,375594,375594,Short QT syndrome type 2,Short QT syndrome type 2,Short QT syndrome type 2,variation_id,ancestry_concentrated,SQTS,False,False,True,-0.0,2.3186792802819512e-05,short qt syndrome type 2 | nm_000218.3(kcnq1):c.835t>a (p.phe279ile) | sqts | short qt syndrome type 2 | short qt syndrome type 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947380:GCCGC:G,KCNH2,VCV001454593,1454593,NM_000238.4(KCNH2):c.3096_3099del (p.Arg1033fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.432334375595314e-06,2.0,1396322.0,3.980891719745223e-05,1.0,asj,27.793014733652488,3.980891719745223e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,13.499558456497171,4.55340497393906,7.219678288254904,3.0,4.834843100189036,8.26388888888889,3.0,44.37137370776905,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,1454593,1454593,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,ancestry_concentrated,LQTS,False,False,True,-0.0,3.980891719745223e-05,long qt syndrome | nm_000238.4(kcnh2):c.3096_3099del (p.arg1033fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +4:113373174:G:T,ANK2,VCV003023363,3023363,NM_001148.6(ANK2):c.11694+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843090668214118e-07,1.0,1461328.0,2.988464526926065e-05,1.0,afr,43.6712065454092,2.988464526926065e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,10.697582692286032,4.55340497393906,8.200975953741672,0.0,6.490721649484536,6.136363636363637,8.0,44.07904890581493,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3023363,3023363,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,False,False,-0.0,2.988464526926065e-05,long qt syndrome | nm_001148.6(ank2):c.11694+1g>t | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +6:123516183:C:CT,TRDN,VCV002980846,2980846,NM_006073.4(TRDN):c.507dup (p.Gly170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.506995472985599e-06,2.0,1327144.0,2.676874481355569e-05,2.0,sas,17.762978409977666,2.676874481355569e-05,popmax,2.0,True,False,True,False,True,0.390625,0.382680412371134,9.621630535950798,7.216976134290603,6.247578939692527,6.0,3.0614432989690723,3.90625,8.0,44.053878908903,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,2980846,2980846,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,2.676874481355569e-05,catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.507dup (p.gly170fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +7:150948445:CTTGT:C,KCNH2,VCV003076018,3076018,NM_000238.4(KCNH2):c.2687_2690del (p.Asp896fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3790573591327384e-06,2.0,1450266.0,2.520923666431381e-05,1.0,eas,18.280036879778883,2.520923666431381e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.6043553875236295,9.035093534989963,4.55340497393906,6.309885337915842,3.0,4.834843100189036,8.26388888888889,8.0,43.99711583592279,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3076018,3076018,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,ancestry_concentrated,LQTS,False,False,True,-0.0,2.520923666431381e-05,congenital long qt syndrome | nm_000238.4(kcnh2):c.2687_2690del (p.asp896fs) | lqts | congenital long qt syndrome | congenital long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2587636:GC:G,KCNQ1,VCV003720989,3720989,NM_000218.3(KCNQ1):c.1201del (p.Arg401fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.368365309750013e-06,2.0,1461598.0,2.31862551879246e-05,2.0,sas,16.94448045286974,2.31862551879246e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,8.217689177940336,7.216976134290603,6.145141285781141,3.0,4.834843100189036,6.4035087719298245,8.0,43.81815847013094,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,3720989,3720989,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,ancestry_concentrated,LQTS,False,False,True,-0.0,2.31862551879246e-05,long qt syndrome | nm_000218.3(kcnq1):c.1201del (p.arg401fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +6:123516189:C:A,TRDN,VCV000838068,838068,NM_006073.4(TRDN):c.502G>T (p.Glu168Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.0270178963157825e-05,27.0,1332006.0,2.603458550047152e-05,27.0,nfe,1.2843786561239623,2.603458550047152e-05,popmax,27.0,True,False,False,True,False,0.390625,0.811340206185567,9.349890396693658,20.0,0.5434653991227222,0.0,6.490721649484536,3.90625,3.0,43.29032744530092,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,838068,838068,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,2.603458550047152e-05,catecholaminergic polymorphic ventricular tachycardia 5|catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | nm_006073.4(trdn):c.502g>t (p.glu168ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 5|catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | catecholaminergic polymorphic ventricular tachycardia 5|catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +12:2593260:C:T,CACNA1C,VCV004055971,4055971,NM_000719.7(CACNA1C):c.2578C>T (p.Arg860Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842753524018065e-07,1.0,1461400.0,3.827018752391887e-05,1.0,asj,55.92797177571708,3.827018752391887e-05,popmax,1.0,True,False,True,False,False,0.7307692307692307,0.811340206185567,13.114363536467756,4.55340497393906,8.738145349762476,0.0,6.490721649484536,7.3076923076923075,3.0,43.20432781734613,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.73; detectability=0.81,4055971,4055971,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,False,False,-0.0,3.827018752391887e-05,long qt syndrome | nm_000719.7(cacna1c):c.2578c>t (p.arg860ter) | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38566555:G:A,SCN5A,VCV000440848,440848,NM_198056.2(SCN5A):c.[3694C>T;4859C>T],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,3.4209226365187595e-06,5.0,1461594.0,2.9870362626202283e-05,1.0,afr,8.731666298344887,2.9870362626202283e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,10.692911463985178,4.55340497393906,4.705485648723811,0.0,6.490721649484536,6.637931034482759,10.0,43.08045477061535,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,440848,440848,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,2.9870362626202283e-05, | nm_198056.2(scn5a):c.[3694c>t;4859c>t] | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +7:150952752:C:T,KCNH2,VCV003381030,3381030,NM_000238.4(KCNH2):c.1230G>A (p.Trp410Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840469310918484e-07,1.0,1461888.0,2.235935962794025e-05,1.0,amr,32.686833205169094,2.235935962794025e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,7.86283606399323,4.55340497393906,7.571864234571959,0.0,6.490721649484536,8.26388888888889,8.0,42.74271581087767,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3381030,3381030,,,,unmatched,ancestry_concentrated,LQTS,False,False,True,-0.0,2.235935962794025e-05, | nm_000238.4(kcnh2):c.1230g>a (p.trp410ter) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +3:38613742:C:A,SCN5A,VCV001171509,1171509,NM_000335.5(SCN5A):c.703+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.932745436520316e-07,1.0,1442430.0,2.56068831301854e-05,1.0,eas,36.93608459818682,2.56068831301854e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,9.188026567224757,4.55340497393906,7.837254281248514,0.0,6.490721649484536,6.637931034482759,8.0,42.70733850637963,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1171509,1171509,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,disease_model_collision,arrhythmia,True,False,False,-0.0,2.56068831301854e-05,cardiac arrhythmia | nm_000335.5(scn5a):c.703+1g>t | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +3:38581117:TGGGGGTGGCGGGGAGTA:T,SCN5A,VCV002754396,2754396,NM_000335.5(SCN5A):c.3025_3041del (p.Tyr1009fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.972392116176787e-07,1.0,1434228.0,2.27004449287206e-05,1.0,amr,32.557568468480774,2.27004449287206e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.6043553875236295,8.01077374304839,4.55340497393906,7.563259812757562,3.0,4.834843100189036,6.637931034482759,8.0,42.60021266441681,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,2754396,2754396,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,2.27004449287206e-05, | nm_000335.5(scn5a):c.3025_3041del (p.tyr1009fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38587561:TC:T,SCN5A,VCV001214434,1214434,NM_000335.5(SCN5A):c.2274del (p.Ile759fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.052421583812688e-06,3.0,1461688.0,3.3126842680624107e-05,2.0,remaining,16.140362097890165,3.3126842680624107e-05,popmax,2.0,True,False,True,False,False,0.6637931034482759,0.6043553875236295,11.70405131304097,7.216976134290603,6.039566367962358,3.0,4.834843100189036,6.637931034482759,3.0,42.43336794996573,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.66; detectability=0.60,1214434,1214434,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,3.3126842680624107e-05,cardiovascular phenotype | nm_000335.5(scn5a):c.2274del (p.ile759fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +11:2572110:G:A,KCNQ1,VCV001067403,1067403,NM_000218.3(KCNQ1):c.780+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.854366642813471e-07,1.0,1458924.0,2.520034272466105e-05,1.0,eas,36.76533263033125,2.520034272466105e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,9.031645450357535,4.55340497393906,7.827192497787115,0.0,6.490721649484536,6.4035087719298245,8.0,42.30647334349807,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,1067403,1067403,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,ancestry_concentrated,LQTS,False,False,True,-0.0,2.520034272466105e-05,long qt syndrome | nm_000218.3(kcnq1):c.780+1g>a | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583509:CTCTG:C,KCNQ1,VCV002830594,2830594,NM_000218.3(KCNQ1):c.1000_1003del (p.Val334fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841311671004058e-07,1.0,1461708.0,2.235935962794025e-05,1.0,amr,32.68280853202259,2.235935962794025e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,7.86283606399323,4.55340497393906,7.571596848474263,3.0,4.834843100189036,6.4035087719298245,8.0,42.226189758525415,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,2830594,2830594,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,ancestry_concentrated,LQTS,False,False,True,-0.0,2.235935962794025e-05,long qt syndrome | nm_000218.3(kcnq1):c.1000_1003del (p.val334fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +1:237795312:A:C,RYR2,VCV000852605,852605,NM_001035.3(RYR2):c.13937A>C (p.Asp4646Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,9.531449812945298e-06,12.0,1258990.0,1.2573555298496204e-05,12.0,nfe,1.319164998619016,1.2573555298496204e-05,popmax,12.0,True,False,True,False,True,0.8035714285714286,0.811340206185567,2.237807940724398,16.849600618345303,0.601495598308596,0.0,6.490721649484536,8.035714285714286,8.0,42.21534009257712,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,852605,852605,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,1.2573555298496204e-05,ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.13937a>c (p.asp4646ala) | cpvt|arrhythmia | ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|catecholaminergic polymorphic ventricular tachycardia 1 | ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115727014:C:A,CASQ2,VCV001757434,1757434,NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.2557001542898904e-06,3.0,1329964.0,3.53090720775858e-05,3.0,sas,15.653258416096053,3.53090720775858e-05,popmax,3.0,True,False,True,False,False,0.5125,0.811340206185567,12.327442126962277,9.10680994787812,5.9730237748543935,0.0,6.490721649484536,5.125,3.0,42.022997499179326,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,1757434,1757434,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,3.53090720775858e-05,cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2 | nm_001232.4(casq2):c.715g>t (p.glu239ter) | cpvt|arrhythmia | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2 | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +7:150947827:GC:G,KCNH2,VCV001420193,1420193,NM_000238.4(KCNH2):c.2743del (p.Ala915fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.281115117342451e-07,1.0,1373416.0,2.8638524543215534e-05,1.0,fin,39.3325551775003,2.8638524543215534e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,10.281389726816125,4.55340497393906,7.973760802916131,3.0,4.834843100189036,8.26388888888889,3.0,41.90728749274924,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,1420193,1420193,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id,ancestry_concentrated,LQTS,False,False,True,-0.0,2.8638524543215534e-05,long qt syndrome|long qt syndrome 2 | nm_000238.4(kcnh2):c.2743del (p.ala915fs) | lqts | long qt syndrome|long qt syndrome 2 | long qt syndrome|long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +12:2593252:C:G,CACNA1C,VCV000633643,633643,NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842613057074236e-07,1.0,1461430.0,2.2369362920544025e-05,1.0,amr,32.691211738483084,2.2369362920544025e-05,popmax,1.0,True,False,True,False,True,0.7307692307692307,0.811340206185567,7.8672067870637745,4.55340497393906,7.572155092590362,0.0,6.490721649484536,7.3076923076923075,8.0,41.79118081077004,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,633643,633643,Long QT syndrome 8|Long QT syndrome,Long QT syndrome 8|Long QT syndrome,Long QT syndrome 8|Long QT syndrome,variation_id,disease_model_collision,LQTS,True,False,False,-0.0,2.2369362920544025e-05,long qt syndrome 8|long qt syndrome | nm_000719.7(cacna1c):c.2570c>g (p.pro857arg) | lqts | long qt syndrome 8|long qt syndrome | long qt syndrome 8|long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +4:113356680:C:T,ANK2,VCV003906496,3906496,NM_001148.6(ANK2):c.8062C>T (p.Arg2688Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052244676819349e-06,3.0,1461814.0,2.987571701720841e-05,1.0,afr,14.557573859047409,2.987571701720841e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,10.69466291292472,4.55340497393906,5.815445011071998,0.0,6.490721649484536,6.136363636363637,8.0,41.69059818378395,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3906496,3906496,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,2.987571701720841e-05, | nm_001148.6(ank2):c.8062c>t (p.arg2688ter) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +21:34449497:G:T,KCNE1,VCV000547162,547162,NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.000828228591091e-06,3.0,999724.0,2.9429942023014216e-05,2.0,sas,9.807270184725496,2.9429942023014216e-05,popmax,2.0,True,False,True,False,True,0.4166666666666667,0.811340206185567,10.547761979187364,7.216976134290603,4.95774070015624,0.0,6.490721649484536,4.166666666666667,8.0,41.37986712978541,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,547162,547162,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5|Long QT syndrome,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5|Long QT syndrome,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5|Long QT syndrome,variation_id,penetrance_boundary,LQTS,False,False,True,-0.0,2.9429942023014216e-05,jervell and lange-nielsen syndrome 2|long qt syndrome 5|long qt syndrome | nm_000219.6(kcne1):c.138c>a (p.tyr46ter) | lqts | jervell and lange-nielsen syndrome 2|long qt syndrome 5|long qt syndrome | jervell and lange-nielsen syndrome 2|long qt syndrome 5|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +1:115726996:G:A,CASQ2,VCV000859128,859128,NM_001232.4(CASQ2):c.733C>T (p.Gln245Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.6498437597959474e-06,2.0,1212236.0,2.4118469924268005e-05,2.0,sas,14.618630499060393,2.4118469924268005e-05,popmax,2.0,True,False,True,False,True,0.5125,0.811340206185567,8.602869840903006,7.216976134290603,5.82453344499717,0.0,6.490721649484536,5.125,8.0,41.26010106967532,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,859128,859128,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,2.4118469924268005e-05,catecholaminergic polymorphic ventricular tachycardia | nm_001232.4(casq2):c.733c>t (p.gln245ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia | catecholaminergic polymorphic ventricular tachycardia | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +11:2775959:G:A,KCNQ1,VCV000666975,666975,NM_000218.3(KCNQ1):c.1591-1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.4245501270698712e-06,2.0,1403952.0,3.968253968253968e-05,1.0,asj,27.85617162380255,3.968253968253968e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,13.468488078660226,4.55340497393906,7.224607147499393,0.0,6.490721649484536,6.4035087719298245,3.0,41.14073062151304,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,666975,666975,Congenital long QT syndrome|Long QT syndrome,Congenital long QT syndrome|Long QT syndrome,Congenital long QT syndrome|Long QT syndrome,variation_id,ancestry_concentrated,LQTS,False,False,True,-0.0,3.968253968253968e-05,congenital long qt syndrome|long qt syndrome | nm_000218.3(kcnq1):c.1591-1g>a | lqts | congenital long qt syndrome|long qt syndrome | congenital long qt syndrome|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +3:38580930:C:T,SCN5A,VCV004614938,4614938,NM_000335.5(SCN5A):c.3228+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.386107049047398e-06,2.0,1442890.0,2.540779511154022e-05,1.0,eas,18.330314241376573,2.540779511154022e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,9.111757403326108,4.55340497393906,6.3158495512502615,0.0,6.490721649484536,6.637931034482759,8.0,41.109664612482725,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4614938,4614938,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,2.540779511154022e-05,cardiovascular phenotype | nm_000335.5(scn5a):c.3228+1g>a | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +7:150947785:TC:T,KCNH2,VCV000972416,972416,NM_000238.4(KCNH2):c.2785del (p.Glu929fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.232300030520306e-07,1.0,1382686.0,2.6745119015779625e-05,1.0,fin,36.98005188233825,2.6745119015779625e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,9.613002399391142,4.55340497393906,7.839837580654089,3.0,4.834843100189036,8.26388888888889,3.0,41.10497694306222,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,972416,972416,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,ancestry_concentrated,LQTS,False,False,True,-0.0,2.6745119015779625e-05,long qt syndrome | nm_000238.4(kcnh2):c.2785del (p.glu929fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +1:115717895:C:T,CASQ2,VCV002914884,2914884,NM_001232.4(CASQ2):c.784-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.873948285912256e-07,1.0,1454768.0,2.5218136884047006e-05,1.0,eas,36.68648664297249,2.5218136884047006e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,9.038542836767386,4.55340497393906,7.822530613204668,0.0,6.490721649484536,5.125,8.0,41.03020007339565,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2914884,2914884,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,2.5218136884047006e-05,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.784-1g>a | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115744827:C:G,CASQ2,VCV001515619,1515619,NM_001232.4(CASQ2):c.319+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.866537850416593e-07,1.0,1456338.0,2.521050773962588e-05,1.0,eas,36.71496840744561,2.521050773962588e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,9.03558621784762,4.55340497393906,7.824215794207941,0.0,6.490721649484536,5.125,8.0,41.028928635479154,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1515619,1515619,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,2.521050773962588e-05,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.319+1g>c | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +11:2570755:G:A,KCNQ1,VCV000926958,926958,NM_000218.3(KCNQ1):c.604+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.371599119982005e-06,2.0,1458152.0,2.5191455058444177e-05,1.0,eas,18.366472626711847,2.5191455058444177e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,9.028198582011438,4.55340497393906,6.320128779391975,0.0,6.490721649484536,6.4035087719298245,8.0,40.79596275675683,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,926958,926958,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,ancestry_concentrated,arrhythmia,False,False,True,-0.0,2.5191455058444177e-05,cardiac arrhythmia | nm_000218.3(kcnq1):c.604+1g>a | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +4:113232260:G:A,ANK2,VCV002101362,2101362,NM_001148.6(ANK2):c.483+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.081932291061752e-07,1.0,1412044.0,2.239741981723705e-05,1.0,amr,31.6260990230113,2.239741981723705e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,7.879455222339948,4.55340497393906,7.500228132000161,0.0,6.490721649484536,6.136363636363637,8.0,40.560173614127336,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2101362,2101362,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,False,False,-0.0,2.239741981723705e-05,long qt syndrome | nm_001148.6(ank2):c.483+1g>a | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +1:115727123:CTGTAACCATT:C,CASQ2,VCV003019374,3019374,NM_001232.4(CASQ2):c.607-11_607-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,8.92116979868351e-06,13.0,1457208.0,1.173325438959098e-05,13.0,nfe,1.3152147464010495,1.173325438959098e-05,popmax,13.0,True,False,True,False,True,0.5125,0.6043553875236295,1.5619167845981994,17.336428839648455,0.5949833480172113,3.0,4.834843100189036,5.125,8.0,40.4531720724529,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.51; detectability=0.60,3019374,3019374,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,1.173325438959098e-05,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.607-11_607-2del | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +7:150958081:CG:C,KCNH2,VCV001076966,1076966,NM_000238.4(KCNH2):c.893del (p.Pro298fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.5673706872718e-06,4.0,1121274.0,3.380434047731729e-05,1.0,sas,9.475979640116968,3.380434047731729e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,11.901880802626826,4.55340497393906,4.883120594680425,3.0,4.834843100189036,8.26388888888889,3.0,40.43713836032424,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,1076966,1076966,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,variation_id,penetrance_boundary,LQTS,False,False,True,-0.0,3.380434047731729e-05,long qt syndrome|congenital long qt syndrome | nm_000238.4(kcnh2):c.893del (p.pro298fs) | lqts | long qt syndrome|congenital long qt syndrome | long qt syndrome|congenital long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +4:113282823:T:C,ANK2,VCV002664649,2664649,NM_001148.6(ANK2):c.2030T>C (p.Met677Thr),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,2.0523373385836683e-06,3.0,1461748.0,2.237236565394425e-05,1.0,amr,10.90091542575946,2.237236565394425e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,7.868518385294778,4.55340497393906,5.187314851016116,0.0,6.490721649484536,6.136363636363637,10.0,40.23632349609812,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2664649,2664649,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,2.237236565394425e-05, | nm_001148.6(ank2):c.2030t>c (p.met677thr) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +3:38551291:A:AAGTT,SCN5A,VCV001457006,1457006,NM_000335.5(SCN5A):c.5074_5077dup (p.Phe1693Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.840441235821475e-07,1.0,1461894.0,1.6557387906483872e-05,1.0,remaining,24.20511211274717,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.382680412371134,4.927316620159899,4.55340497393906,6.919535492689683,6.0,3.0614432989690723,6.637931034482759,8.0,40.09963142024048,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.66; detectability=0.38,1457006,1457006,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,1.6557387906483872e-05, | nm_000335.5(scn5a):c.5074_5077dup (p.phe1693ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +11:2847865:C:CA,KCNQ1,VCV000405260,405260,NM_000218.3(KCNQ1):c.1894dup (p.Arg632fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,7.015476140365646e-07,1.0,1425420.0,2.484225170169424e-05,1.0,amr,35.410593371081,2.484225170169424e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,8.891796942507975,4.55340497393906,7.745666021199067,6.0,3.0614432989690723,6.4035087719298245,3.0,39.655820008545,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,405260,405260,Long QT syndrome||Cardiac arrhythmia,Long QT syndrome||Cardiac arrhythmia,Long QT syndrome||Cardiac arrhythmia,variation_id,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,2.484225170169424e-05,long qt syndrome||cardiac arrhythmia | nm_000218.3(kcnq1):c.1894dup (p.arg632fs) | lqts|arrhythmia | long qt syndrome||cardiac arrhythmia | long qt syndrome||cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +3:38581292:ATC:A,SCN5A,VCV000418944,418944,NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.791389735748012e-06,7.0,1460954.0,3.826432999158185e-05,1.0,asj,7.986059393172863,3.826432999158185e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.6043553875236295,13.112867803174236,4.55340497393906,4.511662678822849,3.0,4.834843100189036,6.637931034482759,3.0,39.65070959060794,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.66; detectability=0.60,418944,418944,Cardiac arrhythmia|Cardiovascular phenotype|Brugada syndrome|Long QT syndrome 3,Cardiac arrhythmia|Cardiovascular phenotype|Brugada syndrome|Long QT syndrome 3,Cardiac arrhythmia|Cardiovascular phenotype|Brugada syndrome|Long QT syndrome 3,variation_id,disease_model_collision,Brugada|LQTS|arrhythmia,True,False,False,1.584962500721156,3.826432999158185e-05,cardiac arrhythmia|cardiovascular phenotype|brugada syndrome|long qt syndrome 3 | nm_000335.5(scn5a):c.2865_2866del (p.glu955fs) | brugada|lqts|arrhythmia | cardiac arrhythmia|cardiovascular phenotype|brugada syndrome|long qt syndrome 3 | cardiac arrhythmia|cardiovascular phenotype|brugada syndrome|long qt syndrome 3 | variation_id | true | 1.584962500721156,False,False,False,False,False,False,False,True,False,True +1:115705275:C:A,CASQ2,VCV000651334,651334,NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.846004603253495e-07,1.0,1460706.0,2.2361359570661896e-05,1.0,amr,32.66332584221321,2.2361359570661896e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,7.8637100522238415,4.55340497393906,7.570302016728117,0.0,6.490721649484536,5.125,8.0,39.60313869237555,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,651334,651334,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,2.2361359570661896e-05,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.856g>t (p.glu286ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115705293:C:G,CASQ2,VCV004778592,4778592,NM_001232.4(CASQ2):c.839-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.880825478871049e-07,1.0,1453314.0,2.236736154603203e-05,1.0,amr,32.50675388870347,2.236736154603203e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,7.866332486038185,4.55340497393906,7.559868015950208,0.0,6.490721649484536,5.125,8.0,39.59532712541199,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,4778592,4778592,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,2.236736154603203e-05,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.839-1g>c | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +3:38551460:G:A,SCN5A,VCV000523778,523778,NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.104371429196857e-06,6.0,1461856.0,3.311587243765937e-05,2.0,remaining,8.068437747531474,3.311587243765937e-05,popmax,2.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,11.70081481806312,7.216976134290603,4.5339472626392565,0.0,6.490721649484536,6.637931034482759,3.0,39.58039089896028,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,523778,523778,Brugada syndrome|Cardiovascular phenotype,Brugada syndrome|Cardiovascular phenotype,Brugada syndrome|Cardiovascular phenotype,variation_id,disease_model_collision,Brugada,True,False,False,-0.0,3.311587243765937e-05,brugada syndrome|cardiovascular phenotype | nm_000335.5(scn5a):c.4909c>t (p.arg1637ter) | brugada | brugada syndrome|cardiovascular phenotype | brugada syndrome|cardiovascular phenotype | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38603712:C:T,SCN5A,VCV000505275,505275,NM_000335.5(SCN5A):c.1890G>A (p.Thr630=),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,1.4756161804265416e-06,2.0,1355366.0,3.419271011420365e-05,1.0,amr,23.17180334286967,3.419271011420365e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,12.013504583463668,4.55340497393906,6.824799170111071,0.0,6.490721649484536,6.637931034482759,3.0,39.5203614114811,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,505275,505275,Cardiovascular phenotype|Cardiac arrhythmia|Brugada syndrome 1||Brugada syndrome,Cardiovascular phenotype|Cardiac arrhythmia|Brugada syndrome 1||Brugada syndrome,Cardiovascular phenotype|Cardiac arrhythmia|Brugada syndrome 1||Brugada syndrome,variation_id,disease_model_collision,Brugada|arrhythmia,True,False,False,1.0,3.419271011420365e-05,cardiovascular phenotype|cardiac arrhythmia|brugada syndrome 1||brugada syndrome | nm_000335.5(scn5a):c.1890g>a (p.thr630=) | brugada|arrhythmia | cardiovascular phenotype|cardiac arrhythmia|brugada syndrome 1||brugada syndrome | cardiovascular phenotype|cardiac arrhythmia|brugada syndrome 1||brugada syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +15:73329724:C:A,HCN4,VCV000404118,404118,NM_005477.3(HCN4):c.1439G>T (p.Gly480Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840693919991244e-07,1.0,1461840.0,2.236235967619303e-05,1.0,amr,32.69014554312366,2.236235967619303e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,7.864147075654932,4.55340497393906,7.572084270756659,0.0,6.490721649484536,5.0,8.0,39.48035796983519,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,404118,404118,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,ancestry_concentrated,Brugada,False,False,True,-0.0,2.236235967619303e-05,brugada syndrome 8 | nm_005477.3(hcn4):c.1439g>t (p.gly480val) | brugada | brugada syndrome 8 | brugada syndrome 8 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +6:123377715:C:A,TRDN,VCV003780742,3780742,NM_006073.4(TRDN):c.1246+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.053511778943564e-06,3.0,1460912.0,2.990251779199809e-05,1.0,afr,14.561642420059124,2.990251779199809e-05,popmax,1.0,True,False,True,False,True,0.390625,0.811340206185567,10.70342486961894,4.55340497393906,5.816051810922391,0.0,6.490721649484536,3.90625,8.0,39.469853303964925,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3780742,3780742,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,2.990251779199809e-05,catecholaminergic polymorphic ventricular tachycardia 5;catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.1246+1g>t | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 5;catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 5;catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123530549:CTT:C,TRDN,VCV001403180,1403180,NM_006073.4(TRDN):c.439_440del (p.Lys147fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,9.0703770555742e-07,1.0,1102490.0,2.2095541119802024e-05,1.0,remaining,24.360087374907803,2.2095541119802024e-05,popmax,1.0,True,False,True,False,True,0.390625,0.6043553875236295,7.746854885003509,4.55340497393906,6.933394208468446,3.0,4.834843100189036,3.90625,8.0,38.97474716760005,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,1403180,1403180,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,2.2095541119802024e-05,catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.439_440del (p.lys147fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +3:38562432:G:A,SCN5A,VCV000496571,496571,NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.856199444099349e-07,1.0,1458534.0,2.524614996213077e-05,1.0,eas,36.822315840800826,2.524614996213077e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,9.049391432957496,4.55340497393906,7.83055549406824,0.0,6.490721649484536,6.637931034482759,3.0,37.5620045849321,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,496571,496571,Brugada syndrome (shorter-than-normal QT interval)||Brugada syndrome 1|Cardiovascular phenotype,Brugada syndrome (shorter-than-normal QT interval)||Brugada syndrome 1|Cardiovascular phenotype,Brugada syndrome (shorter-than-normal QT interval)||Brugada syndrome 1|Cardiovascular phenotype,variation_id,disease_model_collision,Brugada,True,False,False,-0.0,2.524614996213077e-05,brugada syndrome (shorter-than-normal qt interval)||brugada syndrome 1|cardiovascular phenotype | nm_000335.5(scn5a):c.3943c>t (p.arg1315ter) | brugada | brugada syndrome (shorter-than-normal qt interval)||brugada syndrome 1|cardiovascular phenotype | brugada syndrome (shorter-than-normal qt interval)||brugada syndrome 1|cardiovascular phenotype | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445417:C:T,KCNQ1,VCV002440963,2440963,NM_000218.3(KCNQ1):c.319C>T (p.Gln107Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3834281903929214e-06,2.0,1445684.0,2.3213705371651425e-05,2.0,sas,16.779829811931517,2.3213705371651425e-05,popmax,2.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,8.229250952613919,7.216976134290603,6.123937758591581,0.0,6.490721649484536,6.4035087719298245,3.0,37.46439526691046,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,2440963,2440963,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,ancestry_concentrated,LQTS,False,False,True,-0.0,2.3213705371651425e-05,long qt syndrome | nm_000218.3(kcnq1):c.319c>t (p.gln107ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +1:237784169:A:C,RYR2,VCV003255050,3255050,NM_001035.3(RYR2):c.12457A>C (p.Ser4153Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.3682773114992762e-06,2.0,1461692.0,1.6563421340312053e-05,1.0,remaining,12.105302116616071,1.6563421340312053e-05,popmax,1.0,True,False,True,False,True,0.8035714285714286,0.811340206185567,4.930876705577447,4.55340497393906,5.414878163825536,0.0,6.490721649484536,8.035714285714286,8.0,37.42559577854087,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,3255050,3255050,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,1.6563421340312053e-05,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12457a>c (p.ser4153arg) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +11:2572980:G:A,KCNQ1,VCV002440959,2440959,NM_000218.3(KCNQ1):c.915G>A (p.Trp305Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.845723408129707e-07,1.0,1460766.0,2.5192724341210258e-05,1.0,eas,36.80062286867968,2.5192724341210258e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,9.028690917341178,4.55340497393906,7.829275846919392,0.0,6.490721649484536,6.4035087719298245,3.0,37.30560215961399,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,2440959,2440959,,,,unmatched,ancestry_concentrated,LQTS,False,False,True,-0.0,2.5192724341210258e-05, | nm_000218.3(kcnq1):c.915g>a (p.trp305ter) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2445200:C:A,KCNQ1,VCV002899907,2899907,NM_000218.3(KCNQ1):c.102C>A (p.Cys34Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.003045087718947e-06,3.0,998986.0,3.278043663541598e-05,1.0,sas,10.915729122331037,3.278043663541598e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,11.601331814792106,4.55340497393906,5.190263749803998,0.0,6.490721649484536,6.4035087719298245,3.0,37.23923095994952,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,2899907,2899907,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,variation_id,ancestry_concentrated,LQTS,False,False,True,-0.0,3.278043663541598e-05,long qt syndrome|congenital long qt syndrome | nm_000218.3(kcnq1):c.102c>a (p.cys34ter) | lqts | long qt syndrome|congenital long qt syndrome | long qt syndrome|congenital long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +6:123530547:GTCTTA:G,TRDN,VCV000449691,449691,NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,8.154670542249349e-06,9.0,1103662.0,3.4233679093492176e-05,2.0,sas,4.198045245124528,3.4233679093492176e-05,popmax,2.0,True,False,True,False,False,0.390625,0.6043553875236295,12.02520572910473,7.216976134290603,3.1152355747598097,3.0,4.834843100189036,3.90625,3.0,37.098510538344186,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,449691,449691,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,3.4233679093492176e-05,catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 5|cardiovascular phenotype | nm_006073.4(trdn):c.438_442del (p.asp146_lys147inster) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 5|cardiovascular phenotype | catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 5|cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +4:113367670:T:G,ANK2,VCV004278327,4278327,NM_001148.6(ANK2):c.11137T>G (p.Ser3713Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840721997162468e-07,1.0,1461834.0,1.6559032952475575e-05,1.0,remaining,24.206523452964174,1.6559032952475575e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,4.928287423921334,4.55340497393906,6.919662102183732,0.0,6.490721649484536,6.136363636363637,8.0,37.0284397858923,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,4278327,4278327,"Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related",variation_id,disease_model_collision,arrhythmia,True,False,False,-0.0,1.6559032952475575e-05,"cardiac arrhythmia, ankyrin-b-related | nm_001148.6(ank2):c.11137t>g (p.ser3713ala) | arrhythmia | cardiac arrhythmia, ankyrin-b-related | cardiac arrhythmia, ankyrin-b-related | variation_id | true | -0.0",False,False,False,False,False,False,False,False,False,False +4:113354772:C:T,ANK2,VCV003359793,3359793,NM_001148.6(ANK2):c.6154C>T (p.Arg2052Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3683166284678274e-06,2.0,1461650.0,1.872308556450103e-05,1.0,fin,13.683289738411244,1.872308556450103e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,6.128492517596933,4.55340497393906,5.680952615385102,0.0,6.490721649484536,6.136363636363637,8.0,36.98993539276927,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3359793,3359793,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,1.872308556450103e-05, | nm_001148.6(ank2):c.6154c>t (p.arg2052ter) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +6:123516159:CT:C,TRDN,VCV001075032,1075032,NM_006073.4(TRDN):c.531del (p.Glu178fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.240414387045028e-06,3.0,1339038.0,3.33000333000333e-05,1.0,afr,14.863330475494562,3.33000333000333e-05,popmax,1.0,True,False,True,False,False,0.390625,0.6043553875236295,11.755005318964844,4.55340497393906,5.860580670631089,3.0,4.834843100189036,3.90625,3.0,36.91008406372403,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,1075032,1075032,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,3.33000333000333e-05,catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 1;catecholaminergic polymorphic ventricular tachycardia 5 | nm_006073.4(trdn):c.531del (p.glu178fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 1;catecholaminergic polymorphic ventricular tachycardia 5 | catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 1;catecholaminergic polymorphic ventricular tachycardia 5 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +7:150959590:T:TG,KCNH2,VCV000503669,503669,NM_000238.4(KCNH2):c.453dup (p.Thr152fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.3683035225605884e-06,2.0,1461664.0,1.8775111711914684e-05,1.0,fin,13.721443145404296,1.8775111711914684e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.382680412371134,6.1556074395176905,4.55340497393906,5.68699895230755,6.0,3.0614432989690723,8.26388888888889,3.0,36.72134355362226,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.83; detectability=0.38,503669,503669,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,variation_id,ancestry_concentrated,LQTS,False,False,True,-0.0,1.8775111711914684e-05,long qt syndrome|long qt syndrome 2|cardiovascular phenotype | nm_000238.4(kcnh2):c.453dup (p.thr152fs) | lqts | long qt syndrome|long qt syndrome 2|cardiovascular phenotype | long qt syndrome|long qt syndrome 2|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +3:38620919:G:A,SCN5A,VCV000667015,667015,NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842435140557302e-07,1.0,1461468.0,2.2374367924106146e-05,1.0,amr,32.69937641368331,2.2374367924106146e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,7.869392881930953,4.55340497393906,7.572697353105923,0.0,6.490721649484536,6.637931034482759,3.0,36.12414789294324,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,667015,667015,Brugada syndrome|Brugada syndrome (shorter-than-normal QT interval)||Cardiac arrhythmia,Brugada syndrome|Brugada syndrome (shorter-than-normal QT interval)||Cardiac arrhythmia,Brugada syndrome|Brugada syndrome (shorter-than-normal QT interval)||Cardiac arrhythmia,variation_id,disease_model_collision,Brugada|arrhythmia,True,False,False,1.0,2.2374367924106146e-05,brugada syndrome|brugada syndrome (shorter-than-normal qt interval)||cardiac arrhythmia | nm_000335.5(scn5a):c.535c>t (p.arg179ter) | brugada|arrhythmia | brugada syndrome|brugada syndrome (shorter-than-normal qt interval)||cardiac arrhythmia | brugada syndrome|brugada syndrome (shorter-than-normal qt interval)||cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +17:70175675:G:A,KCNJ2,VCV001480008,1480008,NM_000891.3(KCNJ2):c.636G>A (p.Trp212Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840450594161539e-07,1.0,1461892.0,1.6557387906483872e-05,1.0,remaining,24.20507899806617,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,4.927316620159899,4.55340497393906,6.919532521926111,0.0,6.490721649484536,5.0,8.0,35.89097576550961,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,1480008,1480008,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,disease_model_collision,SQTS,True,False,False,-0.0,1.6557387906483872e-05,andersen tawil syndrome;short qt syndrome type 3 | nm_000891.3(kcnj2):c.636g>a (p.trp212ter) | sqts | andersen tawil syndrome;short qt syndrome type 3 | andersen tawil syndrome;short qt syndrome type 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +11:2585248:C:T,KCNQ1,VCV000842027,842027,NM_000218.3(KCNQ1):c.1069C>T (p.Gln357Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3682454851319603e-06,2.0,1461726.0,2.5188916876574308e-05,1.0,eas,18.40963463110593,2.5188916876574308e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,9.027213985763447,4.55340497393906,6.325225846575167,0.0,6.490721649484536,6.4035087719298245,3.0,35.800075227692034,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,842027,842027,Long QT syndrome|KCNQ1-related disorder,Long QT syndrome|KCNQ1-related disorder,Long QT syndrome|KCNQ1-related disorder,variation_id,ancestry_concentrated,LQTS,False,False,True,-0.0,2.5188916876574308e-05,long qt syndrome|kcnq1-related disorder | nm_000218.3(kcnq1):c.1069c>t (p.gln357ter) | lqts | long qt syndrome|kcnq1-related disorder | long qt syndrome|kcnq1-related disorder | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +4:113333091:C:T,ANK2,VCV002576605,2576605,NM_001148.6(ANK2):c.3262C>T (p.Arg1088Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368095733867073e-06,2.0,1461886.0,1.6557387906483872e-05,1.0,remaining,12.102498673235353,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,4.927316620159899,4.55340497393906,5.414375218511921,0.0,6.490721649484536,6.136363636363637,8.0,35.522182098459055,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2576605,2576605,"ANK2-associated Neurodevelopmental Disorder|Cardiac arrhythmia, ankyrin-B-related","ANK2-associated Neurodevelopmental Disorder|Cardiac arrhythmia, ankyrin-B-related","ANK2-associated Neurodevelopmental Disorder|Cardiac arrhythmia, ankyrin-B-related",variation_id,disease_model_collision,arrhythmia,True,False,False,-0.0,1.6557387906483872e-05,"ank2-associated neurodevelopmental disorder|cardiac arrhythmia, ankyrin-b-related | nm_001148.6(ank2):c.3262c>t (p.arg1088ter) | arrhythmia | ank2-associated neurodevelopmental disorder|cardiac arrhythmia, ankyrin-b-related | ank2-associated neurodevelopmental disorder|cardiac arrhythmia, ankyrin-b-related | variation_id | true | -0.0",False,False,False,False,False,False,False,False,False,False +7:150977912:A:G,KCNH2,VCV004813695,4813695,NM_000238.4(KCNH2):c.2T>C (p.Met1Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.93410107700458e-07,1.0,1442148.0,1.171042461999672e-05,1.0,sas,16.888142531826052,1.171042461999672e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,1.542885299143372,4.55340497393906,6.137909428275693,0.0,6.490721649484536,8.26388888888889,8.0,34.98881023973155,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,4813695,4813695,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,ancestry_concentrated,LQTS,False,False,True,-0.0,1.171042461999672e-05,long qt syndrome 2 | nm_000238.4(kcnh2):c.2t>c (p.met1thr) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583515:CTT:C,KCNQ1,VCV003000119,3000119,NM_000218.3(KCNQ1):c.1004_1005del (p.Phe335fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.105124015796517e-06,6.0,1461588.0,1.6558484567492383e-05,1.0,remaining,4.033612984689953,1.6558484567492383e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,4.927963811950888,4.55340497393906,3.028471131906448,3.0,4.834843100189036,6.4035087719298245,8.0,34.74819178991525,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,3000119,3000119,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,penetrance_boundary,LQTS,False,False,True,-0.0,1.6558484567492383e-05,long qt syndrome | nm_000218.3(kcnq1):c.1004_1005del (p.phe335fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +1:115738290:G:A,CASQ2,VCV000942279,942279,NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052578860079804e-06,3.0,1461576.0,1.655958137378287e-05,1.0,remaining,8.067692125332965,1.655958137378287e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,4.928611046609361,4.55340497393906,4.533746582792739,0.0,6.490721649484536,5.125,8.0,33.6314842528257,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,942279,942279,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,1.655958137378287e-05,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.466c>t (p.gln156ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123516162:T:A,TRDN,VCV000583099,583099,NM_006073.4(TRDN):c.529A>T (p.Lys177Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.239026530971708e-06,3.0,1339868.0,1.8289560318969934e-05,1.0,remaining,8.168529000191663,1.8289560318969934e-05,popmax,1.0,True,False,True,False,True,0.390625,0.811340206185567,5.899574000431089,4.55340497393906,4.560719276163659,0.0,6.490721649484536,3.90625,8.0,33.41066990001834,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,583099,583099,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,1.8289560318969934e-05,catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.529a>t (p.lys177ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +3:38603999:G:A,SCN5A,VCV000517279,517279,NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.7902486960258726e-06,7.0,1461302.0,2.519018590357197e-05,1.0,eas,5.258637545443709,2.519018590357197e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,9.027706271486364,4.55340497393906,3.604366189265548,0.0,6.490721649484536,6.637931034482759,3.0,33.31413011865827,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,517279,517279,Brugada syndrome|Cardiovascular phenotype|Primary familial dilated cardiomyopathy||Cardiac arrhythmia|SCN5A-related disorder,Brugada syndrome|Cardiovascular phenotype|Primary familial dilated cardiomyopathy||Cardiac arrhythmia|SCN5A-related disorder,Brugada syndrome|Cardiovascular phenotype|Primary familial dilated cardiomyopathy||Cardiac arrhythmia|SCN5A-related disorder,variation_id,disease_model_collision,Brugada|arrhythmia|cardiomyopathy_overlap,True,False,False,1.584962500721156,2.519018590357197e-05,brugada syndrome|cardiovascular phenotype|primary familial dilated cardiomyopathy||cardiac arrhythmia|scn5a-related disorder | nm_000335.5(scn5a):c.1603c>t (p.arg535ter) | brugada|arrhythmia|cardiomyopathy_overlap | brugada syndrome|cardiovascular phenotype|primary familial dilated cardiomyopathy||cardiac arrhythmia|scn5a-related disorder | brugada syndrome|cardiovascular phenotype|primary familial dilated cardiomyopathy||cardiac arrhythmia|scn5a-related disorder | variation_id | true | 1.584962500721156,False,False,False,False,True,False,True,True,False,True +6:123570930:G:GT,TRDN,VCV004077704,4077704,NM_006073.4(TRDN):c.224dup (p.Asn75fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.843811893723814e-07,1.0,1461174.0,1.160227404571296e-05,1.0,sas,16.952917866481776,1.160227404571296e-05,popmax,1.0,True,False,True,False,True,0.390625,0.382680412371134,1.4522210262051705,4.55340497393906,6.146222289760973,6.0,3.0614432989690723,3.90625,8.0,33.11954158887428,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,4077704,4077704,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,1.160227404571296e-05,catecholaminergic polymorphic ventricular tachycardia 5 | nm_006073.4(trdn):c.224dup (p.asn75fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 5 | catecholaminergic polymorphic ventricular tachycardia 5 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +11:2572062:G:T,KCNQ1,VCV000405265,405265,NM_000218.3(KCNQ1):c.733G>T (p.Gly245Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.846370191451896e-07,1.0,1460628.0,1.1593396401409756e-05,1.0,sas,16.933616125912472,1.1593396401409756e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,1.4447412669586976,4.55340497393906,6.143748551865907,0.0,6.490721649484536,6.4035087719298245,8.0,33.03612521417803,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,405265,405265,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,ancestry_concentrated,LQTS,False,False,True,-0.0,1.1593396401409756e-05,long qt syndrome | nm_000218.3(kcnq1):c.733g>t (p.gly245ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +3:38633181:G:A,SCN5A,VCV000924596,924596,NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843886834962407e-07,1.0,1461158.0,1.657000828500414e-05,1.0,remaining,24.21136625022659,1.657000828500414e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,4.93476191496682,4.55340497393906,6.920096487107972,0.0,6.490721649484536,6.637931034482759,3.0,32.53691605998115,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,924596,924596,Cardiac arrhythmia|Brugada syndrome 1;Long QT syndrome 3||Brugada syndrome 1,Cardiac arrhythmia|Brugada syndrome 1;Long QT syndrome 3||Brugada syndrome 1,Cardiac arrhythmia|Brugada syndrome 1;Long QT syndrome 3||Brugada syndrome 1,variation_id,disease_model_collision,Brugada|LQTS|arrhythmia,True,False,False,1.584962500721156,1.657000828500414e-05,cardiac arrhythmia|brugada syndrome 1;long qt syndrome 3||brugada syndrome 1 | nm_000335.5(scn5a):c.127c>t (p.arg43ter) | brugada|lqts|arrhythmia | cardiac arrhythmia|brugada syndrome 1;long qt syndrome 3||brugada syndrome 1 | cardiac arrhythmia|brugada syndrome 1;long qt syndrome 3||brugada syndrome 1 | variation_id | true | 1.584962500721156,False,False,False,False,False,False,False,True,False,True +1:115732931:G:T,CASQ2,VCV001367739,1367739,NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.05254796462502e-06,3.0,1461598.0,2.236035955458164e-05,1.0,amr,10.893947447761208,2.236035955458164e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,7.863273048337192,4.55340497393906,5.185926379560558,0.0,6.490721649484536,5.125,3.0,32.21832605132135,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,1367739,1367739,Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,2.236035955458164e-05,catecholaminergic polymorphic ventricular tachycardia 2;catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2|cardiovascular phenotype | nm_001232.4(casq2):c.576c>a (p.tyr192ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 2;catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2|cardiovascular phenotype | catecholaminergic polymorphic ventricular tachycardia 2;catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2|cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +17:70175721:C:T,KCNJ2,VCV000403974,403974,NM_000891.3(KCNJ2):c.682C>T (p.Arg228Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.104292816666712e-06,6.0,1461884.0,1.6557387906483872e-05,1.0,remaining,4.034162671114734,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,4.927316620159899,4.55340497393906,3.028767032278017,0.0,6.490721649484536,5.0,8.0,32.00021027586151,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,403974,403974,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,disease_model_collision,SQTS,True,False,False,-0.0,1.6557387906483872e-05,andersen tawil syndrome;short qt syndrome type 3 | nm_000891.3(kcnj2):c.682c>t (p.arg228ter) | sqts | andersen tawil syndrome;short qt syndrome type 3 | andersen tawil syndrome;short qt syndrome type 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +1:237640956:A:G,RYR2,VCV001805845,1805845,NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0529075329389014e-06,3.0,1461342.0,1.656781205474005e-05,1.0,remaining,8.070409757137067,1.656781205474005e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,4.933466673522359,4.55340497393906,4.534477928099714,0.0,6.490721649484536,8.035714285714286,3.0,31.54778551075995,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,1805845,1805845,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,1.656781205474005e-05,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.7175a>g (p.tyr2392cys) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123530506:CT:C,TRDN,VCV002732852,2732852,NM_006073.4(TRDN):c.483del (p.Val162fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.6582867511487022e-06,4.0,1093408.0,2.22727070248118e-05,1.0,remaining,6.088287619752758,2.22727070248118e-05,popmax,1.0,True,False,True,False,False,0.390625,0.6043553875236295,7.824893037576183,4.55340497393906,3.922475804818624,3.0,4.834843100189036,3.90625,3.0,31.041866916522903,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,2732852,2732852,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,2.22727070248118e-05,catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 5 | nm_006073.4(trdn):c.483del (p.val162fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 5 | catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 5 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +21:34449418:G:A,KCNE1,VCV000418270,418270,NM_000219.6(KCNE1):c.217C>T (p.His73Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.879216099567022e-07,1.0,1453654.0,1.1603620329542817e-05,1.0,sas,16.86762604048317,1.1603620329542817e-05,popmax,1.0,True,False,True,False,True,0.4166666666666667,0.811340206185567,1.4533548226908253,4.55340497393906,6.135269820157655,0.0,6.490721649484536,4.166666666666667,8.0,30.79941793293874,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,418270,418270,Long QT syndrome 5,Long QT syndrome 5,Long QT syndrome 5,variation_id,ancestry_concentrated,LQTS,False,False,True,-0.0,1.1603620329542817e-05,long qt syndrome 5 | nm_000219.6(kcne1):c.217c>t (p.his73tyr) | lqts | long qt syndrome 5 | long qt syndrome 5 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +1:237707240:A:T,RYR2,VCV000649240,649240,NM_001035.3(RYR2):c.9872A>T (p.Asp3291Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,7.100769865468815e-07,1.0,1408298.0,1.27890321260487e-05,1.0,sas,18.0107444088528,1.27890321260487e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,2.403848526170763,4.55340497393906,6.277658315895527,0.0,6.490721649484536,8.035714285714286,3.0,30.76134775120417,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,649240,649240,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,1.27890321260487e-05,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.9872a>t (p.asp3291val) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +11:2572019:C:CCG,KCNQ1,VCV000817280,817280,NM_000218.3(KCNQ1):c.692_693dup (p.Phe232fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.848423835254316e-07,1.0,1460190.0,1.1602543277486424e-05,1.0,sas,16.94189439015813,1.1602543277486424e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,1.4524477749782392,4.55340497393906,6.144809850868763,6.0,3.0614432989690723,6.4035087719298245,3.0,30.61561467068496,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,817280,817280,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,ancestry_concentrated,LQTS,False,False,True,-0.0,1.1602543277486424e-05,long qt syndrome | nm_000218.3(kcnq1):c.692_693dup (p.phe232fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +1:115725554:C:A,CASQ2,VCV003575248,3575248,NM_001232.4(CASQ2):c.738-1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.955567832684809e-06,7.0,1006388.0,2.285818780287099e-05,1.0,remaining,3.2863148008051355,2.285818780287099e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,8.07844085003294,4.55340497393906,2.583545813913104,0.0,6.490721649484536,5.125,3.0,29.83111328736964,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,3575248,3575248,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,2.285818780287099e-05,catecholaminergic polymorphic ventricular tachycardia 2|catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.738-1g>t | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 2|catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 2|catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +3:38566408:C:T,SCN5A,VCV000488729,488729,NM_000335.5(SCN5A):c.3837+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.791376617260729e-06,7.0,1460958.0,1.8777932174108987e-05,1.0,fin,3.919109424075093,1.8777932174108987e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,6.157075256610451,4.55340497393906,2.9659369471539314,0.0,6.490721649484536,6.637931034482759,3.0,29.80506986167073,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,488729,488729,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,disease_model_collision,arrhythmia,True,False,False,-0.0,1.8777932174108987e-05,cardiac arrhythmia | nm_000335.5(scn5a):c.3837+1g>a | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +21:34449584:C:T,KCNE1,VCV000547164,547164,NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.0952014842170511e-06,1.0,913074.0,1.5943369152769364e-05,1.0,sas,14.55746346682834,1.5943369152769364e-05,popmax,1.0,True,False,True,False,False,0.4166666666666667,0.811340206185567,4.558052904933406,4.55340497393906,5.815428544415592,0.0,6.490721649484536,4.166666666666667,3.0,28.584274739439262,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.42; detectability=0.81,547164,547164,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome|Sensorineural hearing loss disorder|Long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome|Sensorineural hearing loss disorder|Long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome|Sensorineural hearing loss disorder|Long QT syndrome 5,variation_id,ancestry_concentrated,LQTS,False,False,True,-0.0,1.5943369152769364e-05,jervell and lange-nielsen syndrome 2|long qt syndrome|sensorineural hearing loss disorder|long qt syndrome 5 | nm_000219.6(kcne1):c.51g>a (p.trp17ter) | lqts | jervell and lange-nielsen syndrome 2|long qt syndrome|sensorineural hearing loss disorder|long qt syndrome 5 | jervell and lange-nielsen syndrome 2|long qt syndrome|sensorineural hearing loss disorder|long qt syndrome 5 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2588855:G:A,KCNQ1,VCV002773478,2773478,NM_000218.3(KCNQ1):c.1393+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.8510794560791e-07,1.0,1459624.0,1.160631383472609e-05,1.0,sas,16.940830957078788,1.160631383472609e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,1.4556228103999276,4.55340497393906,6.144673544502126,0.0,6.490721649484536,6.4035087719298245,3.0,28.04793175025548,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,2773478,2773478,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,1.160631383472609e-05,cardiac arrhythmia|long qt syndrome | nm_000218.3(kcnq1):c.1393+1g>a | lqts|arrhythmia | cardiac arrhythmia|long qt syndrome | cardiac arrhythmia|long qt syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +17:70175818:G:A,KCNJ2,VCV001477795,1477795,NM_000891.3(KCNJ2):c.779G>A (p.Arg260His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,4.104309661955375e-06,6.0,1461878.0,1.15931275939623e-05,1.0,sas,2.8246225855718,1.15931275939623e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,1.4445146969411835,4.55340497393906,2.254802136965795,0.0,6.490721649484536,5.0,8.0,27.74344345733057,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,1477795,1477795,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,disease_model_collision,SQTS,True,False,False,-0.0,1.15931275939623e-05,andersen tawil syndrome;short qt syndrome type 3 | nm_000891.3(kcnj2):c.779g>a (p.arg260his) | sqts | andersen tawil syndrome;short qt syndrome type 3 | andersen tawil syndrome;short qt syndrome type 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +6:123636753:C:A,TRDN,VCV000915308,915308,NM_006073.4(TRDN):c.22+1G>T,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.055515358810761e-06,3.0,1459488.0,1.6596408537192552e-05,1.0,remaining,8.074082926196981,1.6596408537192552e-05,popmax,1.0,True,False,True,False,False,0.390625,0.811340206185567,4.950318218612913,4.55340497393906,4.535466027950625,0.0,6.490721649484536,3.90625,3.0,27.43616086998713,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.39; detectability=0.81,915308,915308,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,1.6596408537192552e-05,catecholaminergic polymorphic ventricular tachycardia 5|catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.22+1g>t | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 5|catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 5|catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +15:73329709:G:A,HCN4,VCV001675066,1675066,NM_005477.3(HCN4):c.1454C>T (p.Ala485Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,3.420346959995622e-06,5.0,1461840.0,1.6557936218829686e-05,1.0,remaining,4.841009573438511,1.6557936218829686e-05,popmax,1.0,True,False,True,False,False,0.5,0.811340206185567,4.927640210697314,4.55340497393906,3.424679707448827,0.0,6.490721649484536,5.0,3.0,27.396446541569738,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.50; detectability=0.81,1675066,1675066,Left ventricular noncompaction cardiomyopathy|Brugada syndrome 8|Cardiovascular phenotype,Left ventricular noncompaction cardiomyopathy|Brugada syndrome 8|Cardiovascular phenotype,Left ventricular noncompaction cardiomyopathy|Brugada syndrome 8|Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|cardiomyopathy_overlap,True,False,False,1.0,1.6557936218829686e-05,left ventricular noncompaction cardiomyopathy|brugada syndrome 8|cardiovascular phenotype | nm_005477.3(hcn4):c.1454c>t (p.ala485val) | brugada|cardiomyopathy_overlap | left ventricular noncompaction cardiomyopathy|brugada syndrome 8|cardiovascular phenotype | left ventricular noncompaction cardiomyopathy|brugada syndrome 8|cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,True,True,False,True +1:237330939:C:T,RYR2,VCV000404190,404190,NM_001035.3(RYR2):c.230C>T (p.Ala77Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0524243921061023e-06,3.0,1461686.0,1.15931275939623e-05,1.0,sas,5.648501835219441,1.15931275939623e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,1.4445146969411835,4.55340497393906,3.759666370977259,0.0,6.490721649484536,8.035714285714286,3.0,27.284021977056327,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,404190,404190,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,1.15931275939623e-05,cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.230c>t (p.ala77val) | cpvt|arrhythmia | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115738223:C:T,CASQ2,VCV001746831,1746831,NM_001232.4(CASQ2):c.532+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.006952298070145e-07,1.0,1427154.0,1.168688497767805e-05,1.0,sas,16.678962267139422,1.168688497767805e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,1.5232231551520896,4.55340497393906,6.110845130886591,0.0,6.490721649484536,5.125,3.0,26.80319490946228,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,1746831,1746831,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,1.168688497767805e-05,cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 2 | nm_001232.4(casq2):c.532+1g>a | cpvt|arrhythmia | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 2 | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 2 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115744914:T:C,CASQ2,VCV000408869,408869,NM_001232.4(CASQ2):c.235-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.372949328559131e-06,2.0,1456718.0,1.162385214460072e-05,1.0,sas,8.466331886019208,1.162385214460072e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,1.4703775753869388,4.55340497393906,4.63847644556688,0.0,6.490721649484536,5.125,3.0,25.27798064437741,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,408869,408869,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,1.162385214460072e-05,cardiovascular phenotype||catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2 | nm_001232.4(casq2):c.235-2a>g | cpvt|arrhythmia | cardiovascular phenotype||catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2 | cardiovascular phenotype||catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +21:34449622:T:TA,KCNE1,VCV000430060,430060,NM_000219.6(KCNE1):c.12dup (p.Asn5Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,2.628017292353784e-06,2.0,761030.0,3.923091710114907e-06,2.0,nfe,1.4927950545584636,3.923091710114907e-06,popmax,0.0,False,False,False,False,False,0.4166666666666667,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.42; detectability=0.38,430060,430060,Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 5;Jervell and Lange-Nielsen syndrome 2|Jervell and Lange-Nielsen syndrome 2,Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 5;Jervell and Lange-Nielsen syndrome 2|Jervell and Lange-Nielsen syndrome 2,Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 5;Jervell and Lange-Nielsen syndrome 2|Jervell and Lange-Nielsen syndrome 2,variation_id,penetrance_boundary,LQTS,False,False,True,-0.0,3.923091710114907e-06,long qt syndrome|cardiovascular phenotype|long qt syndrome 5;jervell and lange-nielsen syndrome 2|jervell and lange-nielsen syndrome 2 | nm_000219.6(kcne1):c.12dup (p.asn5ter) | lqts | long qt syndrome|cardiovascular phenotype|long qt syndrome 5;jervell and lange-nielsen syndrome 2|jervell and lange-nielsen syndrome 2 | long qt syndrome|cardiovascular phenotype|long qt syndrome 5;jervell and lange-nielsen syndrome 2|jervell and lange-nielsen syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +4:113358978:A:AG,ANK2,VCV001208780,1208780,NM_001148.6(ANK2):c.10367dup (p.Thr3457fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,3.420660515862971e-06,,,,,,2.923411145366478e-07,3.420660515862971e-06,global,0.0,False,False,False,False,True,0.6136363636363636,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.61; detectability=0.38,1208780,1208780,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,3.420660515862971e-06, | nm_001148.6(ank2):c.10367dup (p.thr3457fs) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +7:150947376:C:CG,KCNH2,VCV000857501,857501,NM_000238.4(KCNH2):c.3103dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.4431722079668878e-06,2.0,1385836.0,1.8602055527135749e-06,2.0,nfe,1.2889697109428708,1.8602055527135749e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,857501,857501,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,1.8602055527135749e-06,long qt syndrome | nm_000238.4(kcnh2):c.3103dup (p.arg1035fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2588804:C:CA,KCNQ1,VCV001068919,1068919,NM_000218.3(KCNQ1):c.1344dup (p.Glu449fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.3687567582364937e-06,2.0,1461180.0,1.7986646713479913e-06,2.0,nfe,1.3140861927718974,1.7986646713479913e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.64; detectability=0.38,1068919,1068919,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,1.7986646713479913e-06,long qt syndrome | nm_000218.3(kcnq1):c.1344dup (p.glu449fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948455:C:CGCCT,KCNH2,VCV000519280,519280,NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,8.697558073595258e-07,1.0,1149748.0,1.1272305073664514e-06,1.0,nfe,1.2960306810228792,1.1272305073664514e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.83; detectability=0.38,519280,519280,Cardiovascular phenotype|Long QT syndrome 2|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome 2|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome 2|Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,1.1272305073664514e-06,cardiovascular phenotype|long qt syndrome 2|long qt syndrome | nm_000238.4(kcnh2):c.2677_2680dup (p.arg894fs) | lqts | cardiovascular phenotype|long qt syndrome 2|long qt syndrome | cardiovascular phenotype|long qt syndrome 2|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:82443436:G:GGCCAGCAGGCA,CACNA2D1,VCV001802180,1802180,NM_000722.4(CACNA2D1):c.13_23dup (p.Leu9fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,duplication,LOF,6.870028675499691e-07,1.0,1455598.0,9.019003039404024e-07,1.0,nfe,1.3128038232984225,9.019003039404024e-07,popmax,0.0,False,False,False,False,True,0.75,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.75; detectability=0.38,1802180,1802180,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,variation_id,unknown_or_insufficient,Brugada,False,False,False,-0.0,9.019003039404024e-07,developmental and epileptic encephalopathy 110 | nm_000722.4(cacna2d1):c.13_23dup (p.leu9fs) | brugada | developmental and epileptic encephalopathy 110 | developmental and epileptic encephalopathy 110 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +3:38581146:T:TGCAGCTGG,SCN5A,VCV002104041,2104041,NM_000335.5(SCN5A):c.3005_3012dup (p.Ile1005fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.846370191451896e-07,1.0,1460628.0,8.996883479562679e-07,1.0,nfe,1.314109533501488,8.996883479562679e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.66; detectability=0.38,2104041,2104041,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,8.996883479562679e-07, | nm_000335.5(scn5a):c.3005_3012dup (p.ile1005fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +11:2445314:G:GC,KCNQ1,VCV001787905,1787905,NM_000218.3(KCNQ1):c.221dup (p.Val75fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1325352.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.64; detectability=0.38,1787905,1787905,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,cardiovascular phenotype | nm_000218.3(kcnq1):c.221dup (p.val75fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2847842:A:AC,KCNQ1,VCV001306529,1306529,NM_000218.3(KCNQ1):c.1875dup (p.Gly626fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1417300.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.64; detectability=0.38,1306529,1306529,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1875dup (p.gly626fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958081:C:CG,KCNH2,VCV003645049,3645049,NM_000238.4(KCNH2):c.893dup (p.Pro299fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1121302.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,3645049,3645049,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.893dup (p.pro299fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947472:T:TC,KCNH2,VCV000864600,864600,NM_000238.4(KCNH2):c.3007dup (p.Asp1003fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1424464.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,864600,864600,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3007dup (p.asp1003fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +6:123512339:T:TC,TRDN,VCV000532312,532312,NM_006073.4(TRDN):c.573dup (p.Lys192fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1354634.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,532312,532312,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.573dup (p.lys192fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +7:150947795:GC:G,KCNH2,VCV001074305,1074305,NM_000238.4(KCNH2):c.2775del (p.Pro926fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.97089897247866e-06,,,,,,1.2545634789706644e-07,7.97089897247866e-06,global,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,1074305,1074305,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,variation_id,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,7.97089897247866e-06,long qt syndrome|cardiac arrhythmia|cardiovascular phenotype | nm_000238.4(kcnh2):c.2775del (p.pro926fs) | lqts|arrhythmia | long qt syndrome|cardiac arrhythmia|cardiovascular phenotype | long qt syndrome|cardiac arrhythmia|cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +6:123503830:CCT:C,TRDN,VCV003592999,3592999,NM_006073.4(TRDN):c.680_681del (p.Gln227fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.12401745284186e-06,6.0,1454892.0,5.414810589925564e-06,6.0,nfe,1.3129940255709134,5.414810589925564e-06,popmax,0.0,False,False,False,False,True,0.390625,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,3592999,3592999,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,5.414810589925564e-06,catecholaminergic polymorphic ventricular tachycardia 5 | nm_006073.4(trdn):c.680_681del (p.gln227fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 5 | catecholaminergic polymorphic ventricular tachycardia 5 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +3:38613790:C:CTGAAT,SCN5A,VCV002861576,2861576,NM_000335.5(SCN5A):c.655_656insATTCA (p.Arg219fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,4.113674539782661e-06,6.0,1458550.0,5.403010557482629e-06,6.0,nfe,1.3134267652446132,5.403010557482629e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.66; detectability=0.59,2861576,2861576,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,5.403010557482629e-06, | nm_000335.5(scn5a):c.655_656insattca (p.arg219fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +7:150947387:AC:A,KCNH2,VCV000917819,917819,NM_000238.4(KCNH2):c.3092del (p.Gly1031fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.604154292403596e-06,5.0,1387288.0,4.655415458586356e-06,5.0,nfe,1.2916803192133486,4.655415458586356e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,917819,917819,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,variation_id,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,4.655415458586356e-06,long qt syndrome|cardiac arrhythmia|cardiovascular phenotype | nm_000238.4(kcnh2):c.3092del (p.gly1031fs) | lqts|arrhythmia | long qt syndrome|cardiac arrhythmia|cardiovascular phenotype | long qt syndrome|cardiac arrhythmia|cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +11:2570664:GTGGTCCGCCTC:G,KCNQ1,VCV000519537,519537,NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.0543273721318167e-06,3.0,1460332.0,2.6979242171073577e-06,3.0,nfe,1.3132882034373443,2.6979242171073577e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,519537,519537,Cardiovascular phenotype|Long QT syndrome||Long QT syndrome 1,Cardiovascular phenotype|Long QT syndrome||Long QT syndrome 1,Cardiovascular phenotype|Long QT syndrome||Long QT syndrome 1,variation_id,penetrance_boundary,LQTS,False,False,True,-0.0,2.6979242171073577e-06,cardiovascular phenotype|long qt syndrome||long qt syndrome 1 | nm_000218.3(kcnq1):c.524_534del (p.leu175fs) | lqts | cardiovascular phenotype|long qt syndrome||long qt syndrome 1 | cardiovascular phenotype|long qt syndrome||long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947472:TC:T,KCNH2,VCV000837649,837649,NM_000238.4(KCNH2):c.3007del (p.Asp1003fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.404040829507322e-06,2.0,1424460.0,1.8277793212358715e-06,2.0,nfe,1.3017990510134867,1.8277793212358715e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,837649,837649,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,1.8277793212358715e-06,long qt syndrome | nm_000238.4(kcnh2):c.3007del (p.asp1003fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950047:GCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGC:G,KCNH2,VCV004537402,4537402,NM_000238.4(KCNH2):c.2398+86_2398+120del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,1.3735848641936646e-06,2.0,1456044.0,1.802292155162936e-06,2.0,nfe,1.3121081121644589,1.802292155162936e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,4537402,4537402,,,,unmatched,canonical_monogenic,LQTS,False,False,True,-0.0,1.802292155162936e-06, | nm_000238.4(kcnh2):c.2398+86_2398+120del | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +3:38587442:CA:C,SCN5A,VCV003385945,3385945,NM_000335.5(SCN5A):c.2393del (p.Leu798fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3683877792024215e-06,2.0,1461574.0,1.7988749835852655e-06,2.0,nfe,1.3145942227279572,1.7988749835852655e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,3385945,3385945,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,False,False,-0.0,1.7988749835852655e-06,brugada syndrome | nm_000335.5(scn5a):c.2393del (p.leu798fs) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +1:115702951:CCTGAATAGGT:C,CASQ2,VCV002988469,2988469,NM_001232.4(CASQ2):c.974_983del (p.Asp325fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3685694343702527e-06,2.0,1461380.0,1.7988458604959058e-06,2.0,nfe,1.3143984520779486,1.7988458604959058e-06,popmax,0.0,False,False,False,False,False,0.5125,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.51; detectability=0.60,2988469,2988469,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,1.7988458604959058e-06,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.974_983del (p.asp325fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +11:2572033:TC:T,KCNQ1,VCV000656121,656121,NM_000218.3(KCNQ1):c.706del (p.Ile235_Leu236insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3692440403653143e-06,2.0,1460660.0,1.798784381514972e-06,2.0,nfe,1.3137059682429495,1.798784381514972e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,656121,656121,Long QT syndrome||Cardiovascular phenotype|Cardiac arrhythmia,Long QT syndrome||Cardiovascular phenotype|Cardiac arrhythmia,Long QT syndrome||Cardiovascular phenotype|Cardiac arrhythmia,variation_id,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,1.798784381514972e-06,long qt syndrome||cardiovascular phenotype|cardiac arrhythmia | nm_000218.3(kcnq1):c.706del (p.ile235_leu236inster) | lqts|arrhythmia | long qt syndrome||cardiovascular phenotype|cardiac arrhythmia | long qt syndrome||cardiovascular phenotype|cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +11:2445114:TC:T,KCNQ1,VCV000523933,523933,NM_000218.3(KCNQ1):c.20del (p.Pro7fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.0542451288603822e-06,1.0,948546.0,1.1995470510335298e-06,1.0,nfe,1.1378254263358936,1.1995470510335298e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,523933,523933,,,,unmatched,canonical_monogenic,LQTS,False,False,True,-0.0,1.1995470510335298e-06, | nm_000218.3(kcnq1):c.20del (p.pro7fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150948442:AC:A,KCNH2,VCV003076027,3076027,NM_000238.4(KCNH2):c.2692+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,8.761063032344092e-07,1.0,1141414.0,1.1032048099729716e-06,1.0,nfe,1.2592131191010063,1.1032048099729716e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3076027,3076027,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,1.1032048099729716e-06,congenital long qt syndrome | nm_000238.4(kcnh2):c.2692+1del | lqts | congenital long qt syndrome | congenital long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445294:TCCCCGGCCGCG:T,KCNQ1,VCV000449221,449221,NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,8.033277046838826e-07,1.0,1244822.0,9.895679744137304e-07,1.0,nfe,1.2318356964514732,9.895679744137304e-07,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,449221,449221,"Long QT syndrome|Cardiovascular phenotype|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1|KCNQ1-related disorder","Long QT syndrome|Cardiovascular phenotype|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1|KCNQ1-related disorder","Long QT syndrome|Cardiovascular phenotype|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1|KCNQ1-related disorder",variation_id,disease_model_collision,LQTS|SQTS|arrhythmia,True,False,False,1.584962500721156,9.895679744137304e-07,"long qt syndrome|cardiovascular phenotype|short qt syndrome type 2;atrial fibrillation, familial, 3;beckwith-wiedemann syndrome;long qt syndrome 1;jervell and lange-nielsen syndrome 1|long qt syndrome 1|kcnq1-related disorder | nm_000218.3(kcnq1):c.200_210del (p.pro67fs) | lqts|sqts|arrhythmia | long qt syndrome|cardiovascular phenotype|short qt syndrome type 2;atrial fibrillation, familial, 3;beckwith-wiedemann syndrome;long qt syndrome 1;jervell and lange-nielsen syndrome 1|long qt syndrome 1|kcnq1-related disorder | long qt syndrome|cardiovascular phenotype|short qt syndrome type 2;atrial fibrillation, familial, 3;beckwith-wiedemann syndrome;long qt syndrome 1;jervell and lange-nielsen syndrome 1|long qt syndrome 1|kcnq1-related disorder | variation_id | true | 1.584962500721156",False,False,False,False,True,False,False,True,False,True +3:38581308:CAG:C,SCN5A,VCV001332487,1332487,NM_000335.5(SCN5A):c.2849_2850del (p.Pro950fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.857957974433533e-07,1.0,1458160.0,9.016856110813556e-07,1.0,nfe,1.314801431623534,9.016856110813556e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,1332487,1332487,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,disease_model_collision,arrhythmia,True,False,False,-0.0,9.016856110813556e-07,cardiac arrhythmia | nm_000335.5(scn5a):c.2849_2850del (p.pro950fs) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947652:CA:C,KCNH2,VCV000858435,858435,NM_000238.4(KCNH2):c.2918del (p.Leu973fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.85348348858758e-07,1.0,1459112.0,9.000819074535783e-07,1.0,nfe,1.3133198549796452,9.000819074535783e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,858435,858435,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,9.000819074535783e-07,long qt syndrome|long qt syndrome 2|cardiovascular phenotype | nm_000238.4(kcnh2):c.2918del (p.leu973fs) | lqts | long qt syndrome|long qt syndrome 2|cardiovascular phenotype | long qt syndrome|long qt syndrome 2|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +12:2584592:GAGA:G,CACNA1C,VCV000411734,411734,NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,missense,6.845132973553145e-07,1.0,1460892.0,8.998033029979646e-07,1.0,nfe,1.3145149874508737,8.998033029979646e-07,popmax,0.0,False,False,False,False,False,0.7307692307692307,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.73; detectability=0.60,411734,411734,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,disease_model_collision,LQTS,True,False,False,-0.0,8.998033029979646e-07,long qt syndrome|cardiovascular phenotype | nm_000719.7(cacna1c):c.2317_2319del (p.lys773del) | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38557229:AC:A,SCN5A,VCV001327132,1327132,NM_000335.5(SCN5A):c.4296+1del,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,6.843736954126432e-07,1.0,1461190.0,8.99647877820621e-07,1.0,nfe,1.314556022966598,8.99647877820621e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,1327132,1327132,SUDDEN INFANT DEATH SYNDROME|Cardiovascular phenotype|Brugada syndrome 1,SUDDEN INFANT DEATH SYNDROME|Cardiovascular phenotype|Brugada syndrome 1,SUDDEN INFANT DEATH SYNDROME|Cardiovascular phenotype|Brugada syndrome 1,variation_id,disease_model_collision,Brugada|SADS,True,False,False,1.0,8.99647877820621e-07,sudden infant death syndrome|cardiovascular phenotype|brugada syndrome 1 | nm_000335.5(scn5a):c.4296+1del | brugada|sads | sudden infant death syndrome|cardiovascular phenotype|brugada syndrome 1 | sudden infant death syndrome|cardiovascular phenotype|brugada syndrome 1 | variation_id | true | 1.0,False,False,True,False,False,False,False,True,True,True +3:38604874:CG:C,SCN5A,VCV003629463,3629463,NM_000335.5(SCN5A):c.1372del (p.Arg458fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.843924306197174e-07,1.0,1461150.0,8.99566948471006e-07,1.0,nfe,1.3144017873702387,8.99566948471006e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,3629463,3629463,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,False,False,-0.0,8.99566948471006e-07,brugada syndrome 1 | nm_000335.5(scn5a):c.1372del (p.arg458fs) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +6:123570976:CACGTGATTATCAGGGCA:C,TRDN,VCV001677487,1677487,NM_006073.4(TRDN):c.162_178del (p.Ile54fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84147080675992e-07,1.0,1461674.0,8.994148407046376e-07,1.0,nfe,1.314650827955176,8.994148407046376e-07,popmax,0.0,False,False,False,False,True,0.390625,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,1677487,1677487,,,,unmatched,disease_model_collision,CPVT|SADS,True,False,False,1.0,8.994148407046376e-07, | nm_006073.4(trdn):c.162_178del (p.ile54fs) | cpvt|sads | | | unmatched | true | 1.0,False,False,True,False,False,False,False,False,True,True +11:2768851:GAACACCATCGGGCCACCATT:G,KCNQ1,VCV002009452,2009452,NM_000218.3(KCNQ1):c.1525_1544del (p.His509fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841161902937595e-07,1.0,1461740.0,8.99363071073066e-07,1.0,nfe,1.3146345155964867,8.99363071073066e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,2009452,2009452,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,8.99363071073066e-07,long qt syndrome | nm_000218.3(kcnq1):c.1525_1544del (p.his509fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +4:113359097:ACAGT:A,ANK2,VCV000570614,570614,NM_001148.6(ANK2):c.10483_10486del (p.Ser3495fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841218065194071e-07,1.0,1461728.0,8.993468942853699e-07,1.0,nfe,1.3146000772302235,8.993468942853699e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.61; detectability=0.60,570614,570614,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,False,False,-0.0,8.993468942853699e-07,long qt syndrome | nm_001148.6(ank2):c.10483_10486del (p.ser3495fs) | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +4:113358978:AG:A,ANK2,VCV001342783,1342783,NM_001148.6(ANK2):c.10367del (p.Gly3456fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84114318239035e-07,1.0,1461744.0,8.993291004910337e-07,1.0,nfe,1.3145884568203765,8.993291004910337e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.61; detectability=0.60,1342783,1342783,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,8.993291004910337e-07, | nm_001148.6(ank2):c.10367del (p.gly3456fs) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +7:150951697:AG:A,KCNH2,VCV000405341,405341,NM_000238.4(KCNH2):c.1695del (p.Cys566fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840890465030052e-07,1.0,1461798.0,8.992999848917603e-07,1.0,nfe,1.3145944594412535,8.992999848917603e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,405341,405341,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,8.992999848917603e-07,long qt syndrome | nm_000238.4(kcnh2):c.1695del (p.cys566fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150949032:CA:C,KCNH2,VCV000418689,418689,NM_000238.4(KCNH2):c.2415del (p.Phe805fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840675202005138e-07,1.0,1461844.0,8.992918975598614e-07,1.0,nfe,1.3146240047652844,8.992918975598614e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,418689,418689,,,,unmatched,canonical_monogenic,LQTS,False,False,True,-0.0,8.992918975598614e-07, | nm_000238.4(kcnh2):c.2415del (p.phe805fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150951021:TC:T,KCNH2,VCV000810745,810745,NM_000238.4(KCNH2):c.2044del (p.Glu682fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840656484121468e-07,1.0,1461848.0,8.992789581313703e-07,1.0,nfe,1.3146086864763482,8.992789581313703e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,810745,810745,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,8.992789581313703e-07,long qt syndrome | nm_000238.4(kcnh2):c.2044del (p.glu682fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948956:TGTAGGTCACA:T,KCNH2,VCV000503760,503760,NM_000238.4(KCNH2):c.2482_2491del (p.Cys828fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840478669335365e-07,1.0,1461886.0,8.992757233324281e-07,1.0,nfe,1.3146381301144725,8.992757233324281e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,503760,503760,,,,unmatched,canonical_monogenic,LQTS,False,False,True,-0.0,8.992757233324281e-07, | nm_000238.4(kcnh2):c.2482_2491del (p.cys828fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +3:38551026:GCT:G,SCN5A,VCV002428920,2428920,NM_000335.5(SCN5A):c.5341_5342del (p.Ser1781fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840441235821475e-07,1.0,1461894.0,8.992708711776492e-07,1.0,nfe,1.3146382309816362,8.992708711776492e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,2428920,2428920,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,8.992708711776492e-07, | nm_000335.5(scn5a):c.5341_5342del (p.ser1781fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +11:2445203:CT:C,KCNQ1,VCV003862980,3862980,NM_000218.3(KCNQ1):c.107del (p.Phe36fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,998778.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,3862980,3862980,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,cardiovascular phenotype | nm_000218.3(kcnq1):c.107del (p.phe36fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2445284:GC:G,KCNQ1,VCV003076068,3076068,NM_000218.3(KCNQ1):c.191del (p.Pro64fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1165068.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,3076068,3076068,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,congenital long qt syndrome | nm_000218.3(kcnq1):c.191del (p.pro64fs) | lqts | congenital long qt syndrome | congenital long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572978:TG:T,KCNQ1,VCV001457672,1457672,NM_000218.3(KCNQ1):c.919del (p.Val307fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1460810.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,1457672,1457672,Long QT syndrome|Cardiovascular phenotype|Congenital long QT syndrome,Long QT syndrome|Cardiovascular phenotype|Congenital long QT syndrome,Long QT syndrome|Cardiovascular phenotype|Congenital long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome|cardiovascular phenotype|congenital long qt syndrome | nm_000218.3(kcnq1):c.919del (p.val307fs) | lqts | long qt syndrome|cardiovascular phenotype|congenital long qt syndrome | long qt syndrome|cardiovascular phenotype|congenital long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445270:GC:G,KCNQ1,VCV000635221,635221,NM_000218.3(KCNQ1):c.176del (p.Pro59fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1083286.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,635221,635221,,,,unmatched,canonical_monogenic,LQTS,False,False,True,-0.0,0.0, | nm_000218.3(kcnq1):c.176del (p.pro59fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2445294:TC:T,KCNQ1,VCV000405258,405258,NM_000218.3(KCNQ1):c.200del (p.Pro67fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1244822.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,405258,405258,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.200del (p.pro67fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958217:GC:G,KCNH2,VCV004727450,4727450,NM_000238.4(KCNH2):c.757del (p.Ala253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1219196.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,4727450,4727450,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.757del (p.ala253fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150977840:TG:T,KCNH2,VCV004528252,4528252,NM_000238.4(KCNH2):c.73del (p.Gln25fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,982894.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,4528252,4528252,,,,unmatched,canonical_monogenic,LQTS,False,False,True,-0.0,0.0, | nm_000238.4(kcnh2):c.73del (p.gln25fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150958426:GC:G,KCNH2,VCV003720792,3720792,NM_000238.4(KCNH2):c.548del (p.Gly183fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1297264.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3720792,3720792,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.548del (p.gly183fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958200:CG:C,KCNH2,VCV003644294,3644294,NM_000238.4(KCNH2):c.774del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1212186.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3644294,3644294,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.774del (p.asp259fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948519:CG:C,KCNH2,VCV003376533,3376533,NM_000238.4(KCNH2):c.2616del (p.Gly873fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1461446.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3376533,3376533,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.2616del (p.gly873fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947431:C:CGGGGGGGGGGGGG,KCNH2,VCV003076044,3076044,NM_000238.4(KCNH2):c.3048_3049insCCCCCCCCCCCCC (p.Ala1017fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,0.0,0.0,1294084.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.83; detectability=0.59,3076044,3076044,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,congenital long qt syndrome | nm_000238.4(kcnh2):c.3048_3049insccccccccccccc (p.ala1017fs) | lqts | congenital long qt syndrome | congenital long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947425:T:TGGGGGGG,KCNH2,VCV003076029,3076029,NM_000238.4(KCNH2):c.3054_3055insCCCCCCC (p.Thr1019fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,0.0,0.0,1287706.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.83; detectability=0.59,3076029,3076029,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,congenital long qt syndrome | nm_000238.4(kcnh2):c.3054_3055insccccccc (p.thr1019fs) | lqts | congenital long qt syndrome | congenital long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958228:TG:T,KCNH2,VCV002584422,2584422,NM_000238.4(KCNH2):c.746del (p.Pro249fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1225122.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,2584422,2584422,KCNH2-related disorder,KCNH2-related disorder,KCNH2-related disorder,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,kcnh2-related disorder | nm_000238.4(kcnh2):c.746del (p.pro249fs) | lqts | kcnh2-related disorder | kcnh2-related disorder | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150974709:AC:A,KCNH2,VCV001382290,1382290,NM_000238.4(KCNH2):c.307+1del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,0.0,0.0,1438648.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,1382290,1382290,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.307+1del | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958305:CT:C,KCNH2,VCV001070517,1070517,NM_000238.4(KCNH2):c.669del (p.Leu225fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1328332.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,1070517,1070517,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.669del (p.leu225fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947808:GC:G,KCNH2,VCV000653333,653333,NM_000238.4(KCNH2):c.2762del (p.Gly921fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1378096.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,653333,653333,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome||cardiovascular phenotype | nm_000238.4(kcnh2):c.2762del (p.gly921fs) | lqts | long qt syndrome||cardiovascular phenotype | long qt syndrome||cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150977867:TC:T,KCNH2,VCV000638156,638156,NM_000238.4(KCNH2):c.46del (p.Asp16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1392070.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,638156,638156,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome 2|long qt syndrome | nm_000238.4(kcnh2):c.46del (p.asp16fs) | lqts | long qt syndrome 2|long qt syndrome | long qt syndrome 2|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947425:TG:T,KCNH2,VCV000523705,523705,NM_000238.4(KCNH2):c.3054del (p.Thr1019fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1287714.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,523705,523705,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.3054del (p.thr1019fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947678:CG:C,KCNH2,VCV000418247,418247,NM_000238.4(KCNH2):c.2892del (p.Gly965fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1451776.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,418247,418247,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,canonical_monogenic,arrhythmia,False,False,True,-0.0,0.0,cardiac arrhythmia | nm_000238.4(kcnh2):c.2892del (p.gly965fs) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +3:38603785:GC:G,SCN5A,VCV001254662,1254662,NM_000335.5(SCN5A):c.1816del (p.Ala606fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1413208.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,1254662,1254662,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,0.0, | nm_000335.5(scn5a):c.1816del (p.ala606fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +12:2585484:AC:A,CACNA1C,VCV001334090,1334090,NM_000719.7(CACNA1C):c.2451del (p.Ala818fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1402792.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.73; detectability=0.60,1334090,1334090,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,disease_model_collision,Brugada|LQTS,True,False,False,1.0,0.0,timothy syndrome | nm_000719.7(cacna1c):c.2451del (p.ala818fs) | brugada|lqts | timothy syndrome | timothy syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +1:115705187:C:G,CASQ2,VCV001455253,1455253,NM_001232.4(CASQ2):c.939+5G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,3.47015940524244e-06,5.0,1440856.0,4.575293779613589e-06,5.0,nfe,1.3184678070505331,4.575293779613589e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,1455253,1455253,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,4.575293779613589e-06,cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2 | nm_001232.4(casq2):c.939+5g>c | cpvt|arrhythmia | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2 | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115726991:C:T,CASQ2,VCV002202832,2202832,NM_001232.4(CASQ2):c.737+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.4284758230741907e-06,5.0,1458374.0,4.505194489246101e-06,5.0,nfe,1.3140516100110182,4.505194489246101e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,2202832,2202832,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,4.505194489246101e-06,catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2 | nm_001232.4(casq2):c.737+1g>a | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2 | catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115744903:G:A,CASQ2,VCV002914975,2914975,NM_001232.4(CASQ2):c.244C>T (p.Gln82Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.423808617315433e-06,5.0,1460362.0,4.501244143881369e-06,5.0,nfe,1.3146890881773796,4.501244143881369e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2914975,2914975,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,4.501244143881369e-06,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.244c>t (p.gln82ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115702947:G:A,CASQ2,VCV001425730,1425730,NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.4213767620090325e-06,5.0,1461400.0,4.497138920218957e-06,5.0,nfe,1.314423671701846,4.497138920218957e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1425730,1425730,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,4.497138920218957e-06,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.988c>t (p.gln330ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115725508:C:T,CASQ2,VCV000427947,427947,NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.738473082178839e-06,4.0,1460668.0,3.598442594045297e-06,4.0,nfe,1.3140323720654798,3.598442594045297e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,427947,427947,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,3.598442594045297e-06,catecholaminergic polymorphic ventricular tachycardia 2|catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.783g>a (p.trp261ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 2|catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 2|catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115738281:C:A,CASQ2,VCV000654552,654552,NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.7365508786380734e-06,4.0,1461694.0,3.597652891253746e-06,4.0,nfe,1.314666796320421,3.597652891253746e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,654552,654552,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,3.597652891253746e-06,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.475g>t (p.glu159ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237388137:G:T,RYR2,VCV002626900,2626900,NM_001035.3(RYR2):c.727G>T (p.Glu243Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052595712538076e-06,3.0,1461564.0,2.698200839680101e-06,3.0,nfe,1.3145309174463802,2.698200839680101e-06,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,2626900,2626900,RYR2-related disorder,RYR2-related disorder,RYR2-related disorder,variation_id,disease_model_collision,CPVT|SADS,True,False,False,1.0,2.698200839680101e-06,ryr2-related disorder | nm_001035.3(ryr2):c.727g>t (p.glu243ter) | cpvt|sads | ryr2-related disorder | ryr2-related disorder | variation_id | true | 1.0,False,False,True,False,False,False,False,False,True,True +7:150959571:C:T,KCNH2,VCV000419715,419715,NM_000238.4(KCNH2):c.472+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.0523569951851703e-06,3.0,1461734.0,2.698021271199702e-06,3.0,nfe,1.3145963216598953,2.698021271199702e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,419715,419715,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,penetrance_boundary,LQTS,False,False,True,-0.0,2.698021271199702e-06,long qt syndrome | nm_000238.4(kcnh2):c.472+1g>a | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +17:70175754:G:T,KCNJ2,VCV000463523,463523,NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052146408333356e-06,3.0,1461884.0,2.6978320221869704e-06,3.0,nfe,1.3146390026523511,2.6978320221869704e-06,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,463523,463523,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,disease_model_collision,SQTS,True,False,False,-0.0,2.6978320221869704e-06,andersen tawil syndrome;short qt syndrome type 3 | nm_000891.3(kcnj2):c.715g>t (p.glu239ter) | sqts | andersen tawil syndrome;short qt syndrome type 3 | andersen tawil syndrome;short qt syndrome type 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +15:73343471:G:A,HCN4,VCV000571947,571947,NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0521492158737845e-06,3.0,1461882.0,2.6978320221869704e-06,3.0,nfe,1.314637204098756,2.6978320221869704e-06,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,571947,571947,Brugada syndrome 8||Cardiovascular phenotype,Brugada syndrome 8||Cardiovascular phenotype,Brugada syndrome 8||Cardiovascular phenotype,variation_id,penetrance_boundary,Brugada,False,False,True,-0.0,2.6978320221869704e-06,brugada syndrome 8||cardiovascular phenotype | nm_005477.3(hcn4):c.1123c>t (p.arg375cys) | brugada | brugada syndrome 8||cardiovascular phenotype | brugada syndrome 8||cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +3:38585690:C:A,SCN5A,VCV000406420,406420,NM_000335.5(SCN5A):c.2787+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5024444771643463e-06,1.0,665582.0,2.0315788618282585e-06,1.0,nfe,1.3521820876073176,2.0315788618282585e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,406420,406420,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,False,False,-0.0,2.0315788618282585e-06,brugada syndrome 1 | nm_000335.5(scn5a):c.2787+1g>t | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +1:115726990:A:T,CASQ2,VCV001033372,1033372,NM_001232.4(CASQ2):c.737+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5389374252653512e-06,2.0,1299598.0,1.9958008350430693e-06,2.0,nfe,1.296869193904846,1.9958008350430693e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1033372,1033372,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,1.9958008350430693e-06,catecholaminergic polymorphic ventricular tachycardia 2 | nm_001232.4(casq2):c.737+2t>a | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 2 | catecholaminergic polymorphic ventricular tachycardia 2 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +7:150958430:G:T,KCNH2,VCV000372376,372376,NM_000238.4(KCNH2):c.545C>A (p.Ser182Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5324754535744223e-06,2.0,1305078.0,1.915719822144572e-06,2.0,nfe,1.2500817338343122,1.915719822144572e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,372376,372376,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,1.915719822144572e-06,long qt syndrome|cardiovascular phenotype | nm_000238.4(kcnh2):c.545c>a (p.ser182ter) | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +1:115740727:C:T,CASQ2,VCV002997913,2997913,NM_001232.4(CASQ2):c.420+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3897903223340694e-06,2.0,1439066.0,1.832653113586008e-06,2.0,nfe,1.318654163495695,1.832653113586008e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,2997913,2997913,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,1.832653113586008e-06,catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | nm_001232.4(casq2):c.420+1g>a | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +12:2566466:G:A,CACNA1C,VCV000372313,372313,NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.385381180704965e-06,2.0,1443646.0,1.8129572051451725e-06,2.0,nfe,1.3086339859103944,1.8129572051451725e-06,popmax,0.0,False,False,False,False,False,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.73; detectability=0.81,372313,372313,Hypertrophic cardiomyopathy 1|Long QT syndrome|Long QT syndrome 8|Cardiac arrhythmia|Timothy syndrome|Cardiovascular phenotype,Hypertrophic cardiomyopathy 1|Long QT syndrome|Long QT syndrome 8|Cardiac arrhythmia|Timothy syndrome|Cardiovascular phenotype,Hypertrophic cardiomyopathy 1|Long QT syndrome|Long QT syndrome 8|Cardiac arrhythmia|Timothy syndrome|Cardiovascular phenotype,variation_id,disease_model_collision,LQTS|arrhythmia|cardiomyopathy_overlap,True,False,False,1.584962500721156,1.8129572051451725e-06,hypertrophic cardiomyopathy 1|long qt syndrome|long qt syndrome 8|cardiac arrhythmia|timothy syndrome|cardiovascular phenotype | nm_000719.7(cacna1c):c.1553g>a (p.arg518his) | lqts|arrhythmia|cardiomyopathy_overlap | hypertrophic cardiomyopathy 1|long qt syndrome|long qt syndrome 8|cardiac arrhythmia|timothy syndrome|cardiovascular phenotype | hypertrophic cardiomyopathy 1|long qt syndrome|long qt syndrome 8|cardiac arrhythmia|timothy syndrome|cardiovascular phenotype | variation_id | true | 1.584962500721156,False,False,False,False,False,False,True,True,False,True +3:38575391:C:T,SCN5A,VCV004757644,4757644,NM_000335.5(SCN5A):c.3569G>A (p.Trp1190Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3728588550082577e-06,2.0,1456814.0,1.802120013984452e-06,2.0,nfe,1.3126766052705447,1.802120013984452e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4757644,4757644,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,disease_model_collision,arrhythmia,True,False,False,-0.0,1.802120013984452e-06,cardiac arrhythmia | nm_000335.5(scn5a):c.3569g>a (p.trp1190ter) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +3:38557230:C:T,SCN5A,VCV001739478,1739478,NM_000335.5(SCN5A):c.4296+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3704318367760864e-06,2.0,1459394.0,1.8015648392193456e-06,2.0,nfe,1.3145962289239144,1.8015648392193456e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,1739478,1739478,Cardiovascular phenotype|Brugada syndrome|Brugada syndrome 1,Cardiovascular phenotype|Brugada syndrome|Brugada syndrome 1,Cardiovascular phenotype|Brugada syndrome|Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,False,False,-0.0,1.8015648392193456e-06,cardiovascular phenotype|brugada syndrome|brugada syndrome 1 | nm_000335.5(scn5a):c.4296+1g>a | brugada | cardiovascular phenotype|brugada syndrome|brugada syndrome 1 | cardiovascular phenotype|brugada syndrome|brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38579405:C:A,SCN5A,VCV003376789,3376789,NM_000335.5(SCN5A):c.3316G>T (p.Glu1106Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.370383008347003e-06,2.0,1459446.0,1.8000990054452994e-06,2.0,nfe,1.313573417728825,1.8000990054452994e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3376789,3376789,Sick sinus syndrome 1,Sick sinus syndrome 1,Sick sinus syndrome 1,variation_id,disease_model_collision,conduction,True,False,False,-0.0,1.8000990054452994e-06,sick sinus syndrome 1 | nm_000335.5(scn5a):c.3316g>t (p.glu1106ter) | conduction | sick sinus syndrome 1 | sick sinus syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +3:38554314:A:G,SCN5A,VCV002505148,2505148,NM_000335.5(SCN5A):c.4775T>C (p.Ile1592Thr),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,1.3689291414897782e-06,2.0,1460996.0,1.7997555931904448e-06,2.0,nfe,1.3147176314138331,1.7997555931904448e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2505148,2505148,Primary dilated cardiomyopathy,Primary dilated cardiomyopathy,Primary dilated cardiomyopathy,variation_id,disease_model_collision,cardiomyopathy_overlap,True,False,False,-0.0,1.7997555931904448e-06,primary dilated cardiomyopathy | nm_000335.5(scn5a):c.4775t>c (p.ile1592thr) | cardiomyopathy_overlap | primary dilated cardiomyopathy | primary dilated cardiomyopathy | variation_id | true | -0.0,False,False,False,False,False,False,True,False,False,True +11:2445453:G:A,KCNQ1,VCV002801649,2801649,NM_000218.3(KCNQ1):c.355G>A (p.Gly119Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.3843723740186531e-06,2.0,1444698.0,1.7994155498294154e-06,2.0,nfe,1.299805806439304,1.7994155498294154e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,2801649,2801649,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,1.7994155498294154e-06,long qt syndrome | nm_000218.3(kcnq1):c.355g>a (p.gly119ser) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +1:115768427:C:A,CASQ2,VCV000488772,488772,NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368531975749613e-06,2.0,1461420.0,1.7992245342257486e-06,2.0,nfe,1.3147111294415277,1.7992245342257486e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,488772,488772,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,1.7992245342257486e-06,catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2 | nm_001232.4(casq2):c.115g>t (p.glu39ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2 | catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 2 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +3:38606149:C:T,SCN5A,VCV000463294,463294,NM_000335.5(SCN5A):c.1141-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3687398969886353e-06,2.0,1461198.0,1.7989623585116103e-06,2.0,nfe,1.314319870524441,1.7989623585116103e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,463294,463294,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,1.7989623585116103e-06, | nm_000335.5(scn5a):c.1141-1g>a | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38585786:C:A,SCN5A,VCV002844180,2844180,NM_000335.5(SCN5A):c.2692G>T (p.Glu898Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368183708762943e-06,2.0,1461792.0,1.7986646713479913e-06,2.0,nfe,1.314636583662941,1.7986646713479913e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2844180,2844180,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,1.7986646713479913e-06, | nm_000335.5(scn5a):c.2692g>t (p.glu898ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +11:2776984:A:C,KCNQ1,VCV003384908,3384908,NM_000218.3(KCNQ1):c.1686-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3682061722516842e-06,2.0,1461768.0,1.7986582009820674e-06,2.0,nfe,1.3146102706229643,1.7986582009820674e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,3384908,3384908,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,1.7986582009820674e-06,jervell and lange-nielsen syndrome | nm_000218.3(kcnq1):c.1686-2a>c | lqts | jervell and lange-nielsen syndrome | jervell and lange-nielsen syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +4:113355864:C:T,ANK2,VCV002499833,2499833,NM_001148.6(ANK2):c.7246C>T (p.Arg2416Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681743491936664e-06,2.0,1461802.0,1.7986290849114804e-06,2.0,nfe,1.31461956683513,1.7986290849114804e-06,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2499833,2499833,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,1.7986290849114804e-06, | nm_001148.6(ank2):c.7246c>t (p.arg2416ter) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113311389:C:T,ANK2,VCV003337797,3337797,NM_001148.6(ANK2):c.2683C>T (p.Arg895Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681537585920056e-06,2.0,1461824.0,1.7985837951197228e-06,2.0,nfe,1.3146062489090642,1.7985837951197228e-06,popmax,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,3337797,3337797,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,1.7985837951197228e-06,cardiovascular phenotype | nm_001148.6(ank2):c.2683c>t (p.arg895ter) | lqts|arrhythmia | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +7:150952811:G:A,KCNH2,VCV003340202,3340202,NM_000238.4(KCNH2):c.1171C>T (p.Gln391Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681780930060105e-06,2.0,1461798.0,1.7985611510791366e-06,2.0,nfe,1.3145663168463837,1.7985611510791366e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,3340202,3340202,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,1.7985611510791366e-06,long qt syndrome 2 | nm_000238.4(kcnh2):c.1171c>t (p.gln391ter) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2662047:G:T,KCNQ1,VCV002773480,2773480,NM_000218.3(KCNQ1):c.1480G>T (p.Glu494Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3680994772491897e-06,2.0,1461882.0,1.7985417423552984e-06,2.0,nfe,1.3146276697246606,1.7985417423552984e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.64; detectability=0.81,2773480,2773480,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,1.7985417423552984e-06,cardiac arrhythmia|long qt syndrome | nm_000218.3(kcnq1):c.1480g>t (p.glu494ter) | lqts|arrhythmia | cardiac arrhythmia|long qt syndrome | cardiac arrhythmia|long qt syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +4:113373351:C:T,ANK2,VCV000985692,985692,NM_001148.6(ANK2):c.11761C>T (p.Gln3921Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681575022916638e-06,,,,,,7.309094657709624e-07,1.3681575022916638e-06,global,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,985692,985692,"Cardiac arrhythmia, ankyrin-B-related||Cardiovascular phenotype","Cardiac arrhythmia, ankyrin-B-related||Cardiovascular phenotype","Cardiac arrhythmia, ankyrin-B-related||Cardiovascular phenotype",variation_id,disease_model_collision,arrhythmia,True,False,False,-0.0,1.3681575022916638e-06,"cardiac arrhythmia, ankyrin-b-related||cardiovascular phenotype | nm_001148.6(ank2):c.11761c>t (p.gln3921ter) | arrhythmia | cardiac arrhythmia, ankyrin-b-related||cardiovascular phenotype | cardiac arrhythmia, ankyrin-b-related||cardiovascular phenotype | variation_id | true | -0.0",False,False,False,False,False,False,False,False,False,False +1:237491910:G:A,RYR2,VCV004800056,4800056,NM_001035.3(RYR2):c.1813G>A (p.Gly605Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,8.828400611631594e-07,1.0,1132708.0,1.188591424075157e-06,1.0,nfe,1.346326622494387,1.188591424075157e-06,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,4800056,4800056,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,1.188591424075157e-06,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.1813g>a (p.gly605arg) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123265339:C:A,TRDN,VCV003780743,3780743,NM_006073.4(TRDN):c.1784-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.908301660585183e-07,1.0,1264494.0,1.009801129765504e-06,1.0,nfe,1.2768871196595997,1.009801129765504e-06,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3780743,3780743,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,1.009801129765504e-06,catecholaminergic polymorphic ventricular tachycardia 5;catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.1784-1g>t | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 5;catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 5;catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123547339:C:A,TRDN,VCV002434223,2434223,NM_006073.4(TRDN):c.424+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.672194738715736e-07,1.0,1303408.0,9.723786131158318e-07,1.0,nfe,1.2674057148253322,9.723786131158318e-07,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,2434223,2434223,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,9.723786131158318e-07,catecholaminergic polymorphic ventricular tachycardia 5 | nm_006073.4(trdn):c.424+1g>t | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 5 | catecholaminergic polymorphic ventricular tachycardia 5 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +7:150948443:C:T,KCNH2,VCV003253477,3253477,NM_000238.4(KCNH2):c.2692+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.140001142400183e-07,1.0,1400560.0,9.379947922529134e-07,1.0,nfe,1.3137175468574929,9.379947922529134e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3253477,3253477,,,,unmatched,canonical_monogenic,LQTS,False,False,True,-0.0,9.379947922529134e-07, | nm_000238.4(kcnh2):c.2692+1g>a | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947870:G:A,KCNH2,VCV000927383,927383,NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.256662341695911e-07,1.0,1378044.0,9.289001265161972e-07,1.0,nfe,1.2800648600031863,9.289001265161972e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,927383,927383,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,canonical_monogenic,arrhythmia,False,False,True,-0.0,9.289001265161972e-07,cardiac arrhythmia|cardiovascular phenotype | nm_000238.4(kcnh2):c.2701c>t (p.gln901ter) | arrhythmia | cardiac arrhythmia|cardiovascular phenotype | cardiac arrhythmia|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +1:115740830:T:C,CASQ2,VCV003236407,3236407,NM_001232.4(CASQ2):c.320-2A>G,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.904131984910329e-07,1.0,1448408.0,9.091454578183782e-07,1.0,nfe,1.3168130953931796,9.091454578183782e-07,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,3236407,3236407,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,9.091454578183782e-07,catecholaminergic polymorphic ventricular tachycardia 2|catecholaminergic polymorphic ventricular tachycardia 1;catecholaminergic polymorphic ventricular tachycardia 2 | nm_001232.4(casq2):c.320-2a>g | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 2|catecholaminergic polymorphic ventricular tachycardia 1;catecholaminergic polymorphic ventricular tachycardia 2 | catecholaminergic polymorphic ventricular tachycardia 2|catecholaminergic polymorphic ventricular tachycardia 1;catecholaminergic polymorphic ventricular tachycardia 2 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +3:38622399:C:G,SCN5A,VCV001743359,1743359,NM_000335.5(SCN5A):c.482+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.915447588514272e-07,1.0,1446038.0,9.088017448993502e-07,1.0,nfe,1.3141614033014393,9.088017448993502e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1743359,1743359,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,9.088017448993502e-07,cardiovascular phenotype | nm_000335.5(scn5a):c.482+1g>c | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +7:150947500:C:T,KCNH2,VCV003544410,3544410,NM_000238.4(KCNH2):c.2980G>A (p.Val994Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.956705638131652e-07,1.0,1437462.0,9.081860255599876e-07,1.0,nfe,1.3054824615540808,9.081860255599876e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3544410,3544410,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,9.081860255599876e-07,long qt syndrome 2 | nm_000238.4(kcnh2):c.2980g>a (p.val994met) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +3:38609733:C:T,SCN5A,VCV001072847,1072847,NM_000335.5(SCN5A):c.934+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.89303389994072e-07,1.0,1450740.0,9.06547630919076e-07,1.0,nfe,1.315164452857862,9.06547630919076e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,1072847,1072847,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,variation_id,disease_model_collision,Brugada|arrhythmia,True,False,False,1.0,9.06547630919076e-07,brugada syndrome|cardiac arrhythmia | nm_000335.5(scn5a):c.934+1g>a | brugada|arrhythmia | brugada syndrome|cardiac arrhythmia | brugada syndrome|cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +3:38556452:G:A,SCN5A,VCV002506125,2506125,NM_000335.5(SCN5A):c.4423C>T (p.Gln1475Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.918940461133544e-07,1.0,1445308.0,9.058397678151508e-07,1.0,nfe,1.3092170162275525,9.058397678151508e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,2506125,2506125,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id,disease_model_collision,Brugada,True,False,False,-0.0,9.058397678151508e-07,brugada syndrome (shorter-than-normal qt interval) | nm_000335.5(scn5a):c.4423c>t (p.gln1475ter) | brugada | brugada syndrome (shorter-than-normal qt interval) | brugada syndrome (shorter-than-normal qt interval) | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +1:115768539:C:T,CASQ2,VCV002811031,2811031,NM_001232.4(CASQ2):c.3G>A (p.Met1Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.879301283127276e-07,1.0,1453636.0,9.052477210388624e-07,1.0,nfe,1.3159002170161198,9.052477210388624e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2811031,2811031,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,9.052477210388624e-07,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.3g>a (p.met1ile) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +12:2448979:C:T,CACNA1C,VCV001208559,1208559,NM_000719.7(CACNA1C):c.481C>T (p.Arg161Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.877020984541832e-07,1.0,1454118.0,9.03404389099884e-07,1.0,nfe,1.3136561273761245,9.03404389099884e-07,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,1208559,1208559,,,,unmatched,disease_model_collision,Brugada|LQTS,True,False,False,1.0,9.03404389099884e-07, | nm_000719.7(cacna1c):c.481c>t (p.arg161ter) | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +3:38620870:C:T,SCN5A,VCV004614939,4614939,NM_000335.5(SCN5A):c.584G>A (p.Trp195Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.886388364758219e-07,1.0,1452140.0,9.031253556056088e-07,1.0,nfe,1.3114640015997934,9.031253556056088e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4614939,4614939,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,9.031253556056088e-07,cardiovascular phenotype | nm_000335.5(scn5a):c.584g>a (p.trp195ter) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38556580:T:G,SCN5A,VCV004723996,4723996,NM_000335.5(SCN5A):c.4297-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.868782892884078e-07,1.0,1455862.0,9.02880731261162e-07,1.0,nfe,1.3144692893514494,9.02880731261162e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4723996,4723996,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,9.02880731261162e-07, | nm_000335.5(scn5a):c.4297-2a>c | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +1:115732900:C:A,CASQ2,VCV003485292,3485292,NM_001232.4(CASQ2):c.606+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.861675483919663e-07,1.0,1457370.0,9.025515131276118e-07,1.0,nfe,1.3153510391036438,9.025515131276118e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,3485292,3485292,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|SADS,True,False,False,1.0,9.025515131276118e-07,cardiovascular phenotype | nm_001232.4(casq2):c.606+1g>t | cpvt|sads | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:115705285:G:T,CASQ2,VCV002794330,2794330,NM_001232.4(CASQ2):c.846C>A (p.Tyr282Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.86050803434096e-07,1.0,1457618.0,9.023935085420568e-07,1.0,nfe,1.3153445614821466,9.023935085420568e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2794330,2794330,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,9.023935085420568e-07,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.846c>a (p.tyr282ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +3:38556579:C:T,SCN5A,VCV002203336,2203336,NM_000335.5(SCN5A):c.4297-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.857092702407663e-07,1.0,1458344.0,9.01297146853752e-07,1.0,nfe,1.3144008278267272,9.01297146853752e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2203336,2203336,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,9.01297146853752e-07, | nm_000335.5(scn5a):c.4297-1g>a | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +1:115732970:G:T,CASQ2,VCV002865838,2865838,NM_001232.4(CASQ2):c.537C>A (p.Tyr179Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.853596219008038e-07,1.0,1459088.0,9.012305401795612e-07,1.0,nfe,1.31497420683443,9.012305401795612e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2865838,2865838,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,9.012305401795612e-07,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.537c>a (p.tyr179ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123636754:C:G,TRDN,VCV003225249,3225249,NM_006073.4(TRDN):c.22G>C (p.Gly8Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.851398644519292e-07,1.0,1459556.0,9.005195998090898e-07,1.0,nfe,1.3143583261953748,9.005195998090898e-07,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3225249,3225249,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|SADS,True,False,False,1.0,9.005195998090898e-07,cardiovascular phenotype | nm_006073.4(trdn):c.22g>c (p.gly8arg) | cpvt|sads | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,True,False,False,False,False,False,True,True +3:38609765:C:T,SCN5A,VCV003338801,3338801,NM_000335.5(SCN5A):c.903G>A (p.Trp301Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.850206533726992e-07,1.0,1459810.0,9.004985159784457e-07,1.0,nfe,1.3145562794180925,9.004985159784457e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3338801,3338801,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,9.004985159784457e-07, | nm_000335.5(scn5a):c.903g>a (p.trp301ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38562434:G:C,SCN5A,VCV003367171,3367171,NM_000335.5(SCN5A):c.3941C>G (p.Ser1314Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,6.854404228893233e-07,1.0,1458916.0,9.002407243696964e-07,1.0,nfe,1.313375139446535,9.002407243696964e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3367171,3367171,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,False,False,-0.0,9.002407243696964e-07,brugada syndrome | nm_000335.5(scn5a):c.3941c>g (p.ser1314ter) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38622461:T:C,SCN5A,VCV002734486,2734486,NM_000335.5(SCN5A):c.421A>G (p.Ile141Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.851135781289822e-07,1.0,1459612.0,9.00009000090001e-07,1.0,nfe,1.3136634788123889,9.00009000090001e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2734486,2734486,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,9.00009000090001e-07, | nm_000335.5(scn5a):c.421a>g (p.ile141val) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +7:150974870:C:A,KCNH2,VCV003720794,3720794,NM_000238.4(KCNH2):c.148G>T (p.Glu50Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.851408032864834e-07,1.0,1459554.0,8.998972317361358e-07,1.0,nfe,1.3134481466749075,8.998972317361358e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,3720794,3720794,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,8.998972317361358e-07,long qt syndrome|cardiovascular phenotype | nm_000238.4(kcnh2):c.148g>t (p.glu50ter) | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572011:A:C,KCNQ1,VCV000573008,573008,NM_000218.3(KCNQ1):c.684-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.850675819169561e-07,1.0,1459710.0,8.997595842390913e-07,1.0,nfe,1.3133876052546227,8.997595842390913e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,573008,573008,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,8.997595842390913e-07,long qt syndrome | nm_000218.3(kcnq1):c.684-2a>c | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +4:113345930:C:T,ANK2,VCV003338732,3338732,NM_001148.6(ANK2):c.4279C>T (p.Arg1427Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843043840644669e-07,1.0,1461338.0,8.996155043334479e-07,1.0,nfe,1.3146418620735227,8.996155043334479e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3338732,3338732,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,8.996155043334479e-07, | nm_001148.6(ank2):c.4279c>t (p.arg1427ter) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +11:2572021:G:T,KCNQ1,VCV000519257,519257,NM_000218.3(KCNQ1):c.692G>T (p.Arg231Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.8483018950621e-07,1.0,1460216.0,8.9957989618848e-07,1.0,nfe,1.3135804997974945,8.9957989618848e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,519257,519257,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,8.9957989618848e-07,cardiovascular phenotype | nm_000218.3(kcnq1):c.692g>t (p.arg231leu) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +3:38606682:C:A,SCN5A,VCV003338339,3338339,NM_000335.5(SCN5A):c.1127G>T (p.Arg376Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.845236057965459e-07,1.0,1460870.0,8.995620931730434e-07,1.0,nfe,1.314142816131888,8.995620931730434e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3338339,3338339,Atrial fibrillation,Atrial fibrillation,Atrial fibrillation,variation_id,disease_model_collision,arrhythmia,True,False,False,-0.0,8.995620931730434e-07,atrial fibrillation | nm_000335.5(scn5a):c.1127g>t (p.arg376leu) | arrhythmia | atrial fibrillation | atrial fibrillation | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +1:237445485:A:T,RYR2,VCV003720290,3720290,NM_001035.3(RYR2):c.1255A>T (p.Ile419Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842641150001642e-07,1.0,1461424.0,8.995378174693842e-07,1.0,nfe,1.3146056955850631,8.995378174693842e-07,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,3720290,3720290,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,8.995378174693842e-07,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.1255a>t (p.ile419phe) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237441382:G:A,RYR2,VCV000519533,519533,NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842332140486764e-07,1.0,1461490.0,8.995167795860064e-07,1.0,nfe,1.3146343183622424,8.995167795860064e-07,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,519533,519533,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy,variation_id,disease_model_collision,CPVT|arrhythmia|cardiomyopathy_overlap,True,False,False,1.584962500721156,8.995167795860064e-07,cardiovascular phenotype||catecholaminergic polymorphic ventricular tachycardia 1|cardiomyopathy | nm_001035.3(ryr2):c.1069g>a (p.gly357ser) | cpvt|arrhythmia|cardiomyopathy_overlap | cardiovascular phenotype||catecholaminergic polymorphic ventricular tachycardia 1|cardiomyopathy | cardiovascular phenotype||catecholaminergic polymorphic ventricular tachycardia 1|cardiomyopathy | variation_id | true | 1.584962500721156,False,False,False,False,False,True,True,True,False,True +1:115768343:G:A,CASQ2,VCV001784131,1784131,NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842023158879988e-07,1.0,1461556.0,8.995151613280442e-07,1.0,nfe,1.3146913211909823,8.995151613280442e-07,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,1784131,1784131,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,8.995151613280442e-07,cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.199c>t (p.gln67ter) | cpvt|arrhythmia | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +3:38557231:C:A,SCN5A,VCV001527872,1527872,NM_000335.5(SCN5A):c.4296G>T (p.Gly1432=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,6.842828442079563e-07,1.0,1461384.0,8.995119248295874e-07,1.0,nfe,1.314531875103312,8.995119248295874e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1527872,1527872,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,False,False,-0.0,8.995119248295874e-07,brugada syndrome 1 | nm_000335.5(scn5a):c.4296g>t (p.gly1432=) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +1:115701358:C:T,CASQ2,VCV002574853,2574853,NM_001232.4(CASQ2):c.1083G>A (p.Trp361Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841751652625111e-07,1.0,1461614.0,8.994730886646602e-07,1.0,nfe,1.3146819990718934,8.994730886646602e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2574853,2574853,,,,unmatched,disease_model_collision,CPVT|SADS,True,False,False,1.0,8.994730886646602e-07, | nm_001232.4(casq2):c.1083g>a (p.trp361ter) | cpvt|sads | | | unmatched | true | 1.0,False,False,True,False,False,False,False,False,True,True +4:113317711:C:T,ANK2,VCV002631072,2631072,NM_001148.6(ANK2):c.2698C>T (p.Arg900Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842659878748067e-07,1.0,1461420.0,8.994682343798347e-07,1.0,nfe,1.3145004074701925,8.994682343798347e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2631072,2631072,ANK2-related disorder,ANK2-related disorder,ANK2-related disorder,variation_id,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,8.994682343798347e-07,ank2-related disorder | nm_001148.6(ank2):c.2698c>t (p.arg900ter) | lqts|arrhythmia | ank2-related disorder | ank2-related disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +3:38585767:C:T,SCN5A,VCV004747274,4747274,NM_000335.5(SCN5A):c.2711G>A (p.Trp904Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841536335399477e-07,1.0,1461660.0,8.994035155884617e-07,1.0,nfe,1.3146216827251025,8.994035155884617e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4747274,4747274,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,8.994035155884617e-07, | nm_000335.5(scn5a):c.2711g>a (p.trp904ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +1:237784136:G:A,RYR2,VCV001009997,1009997,NM_001035.3(RYR2):c.12424G>A (p.Ala4142Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.841424001357339e-07,1.0,1461684.0,8.993986620545503e-07,1.0,nfe,1.3146361740478818,8.993986620545503e-07,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,1009997,1009997,Catecholaminergic polymorphic ventricular tachycardia 1|Paroxysmal familial ventricular fibrillation,Catecholaminergic polymorphic ventricular tachycardia 1|Paroxysmal familial ventricular fibrillation,Catecholaminergic polymorphic ventricular tachycardia 1|Paroxysmal familial ventricular fibrillation,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,8.993986620545503e-07,catecholaminergic polymorphic ventricular tachycardia 1|paroxysmal familial ventricular fibrillation | nm_001035.3(ryr2):c.12424g>a (p.ala4142thr) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1|paroxysmal familial ventricular fibrillation | catecholaminergic polymorphic ventricular tachycardia 1|paroxysmal familial ventricular fibrillation | variation_id | true | 1.0,False,False,False,True,True,True,False,True,True,True +4:113353464:T:C,ANK2,VCV004689790,4689790,NM_001148.6(ANK2):c.4846T>C (p.Cys1616Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840993421700726e-07,1.0,1461776.0,8.993210126354602e-07,1.0,nfe,1.314605412683571,8.993210126354602e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,4689790,4689790,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,8.993210126354602e-07, | nm_001148.6(ank2):c.4846t>c (p.cys1616arg) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +11:2585278:C:T,KCNQ1,VCV001791538,1791538,NM_000218.3(KCNQ1):c.1099C>T (p.Gln367Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841676758139885e-07,1.0,1461630.0,8.993096898820465e-07,1.0,nfe,1.3144575624016888,8.993096898820465e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,1791538,1791538,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,8.993096898820465e-07,cardiovascular phenotype | nm_000218.3(kcnq1):c.1099c>t (p.gln367ter) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +4:113341707:C:T,ANK2,VCV003376712,3376712,NM_001148.6(ANK2):c.3913C>T (p.Arg1305Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840834308152222e-07,1.0,1461810.0,8.992999848917603e-07,1.0,nfe,1.3146052510215225,8.992999848917603e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3376712,3376712,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,8.992999848917603e-07,neurodevelopmental disorder | nm_001148.6(ank2):c.3913c>t (p.arg1305ter) | lqts|arrhythmia | neurodevelopmental disorder | neurodevelopmental disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +11:2777974:A:G,KCNQ1,VCV001415094,1415094,NM_000218.3(KCNQ1):c.1733-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842163601605445e-07,1.0,1461526.0,8.992951324751659e-07,1.0,nfe,1.3143427583657852,8.992951324751659e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,1415094,1415094,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,8.992951324751659e-07,long qt syndrome | nm_000218.3(kcnq1):c.1733-2a>g | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +4:113330289:C:T,ANK2,VCV000809661,809661,NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840693919991244e-07,1.0,1461840.0,8.992935150146045e-07,1.0,nfe,1.3146227720607964,8.992935150146045e-07,popmax,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,809661,809661,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,8.992935150146045e-07,cardiovascular phenotype | nm_001148.6(ank2):c.2944c>t (p.arg982ter) | lqts|arrhythmia | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +17:70176216:G:T,KCNJ2,VCV000638351,638351,NM_000891.3(KCNJ2):c.1177G>T (p.Gly393Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840750074564176e-07,1.0,1461828.0,8.992886626678298e-07,1.0,nfe,1.314604887272155,8.992886626678298e-07,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,638351,638351,Andersen Tawil syndrome,Andersen Tawil syndrome,Andersen Tawil syndrome,variation_id,disease_model_collision,LQTS|periodic_paralysis,True,False,False,1.0,8.992886626678298e-07,andersen tawil syndrome | nm_000891.3(kcnj2):c.1177g>t (p.gly393ter) | lqts|periodic_paralysis | andersen tawil syndrome | andersen tawil syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +15:73329725:C:T,HCN4,VCV000970883,970883,NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840675202005138e-07,1.0,1461844.0,8.992870452305412e-07,1.0,nfe,1.314616911427151,8.992870452305412e-07,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,970883,970883,Brugada syndrome 8|Left ventricular noncompaction cardiomyopathy|Cardiovascular phenotype|HCN4-related disorder,Brugada syndrome 8|Left ventricular noncompaction cardiomyopathy|Cardiovascular phenotype|HCN4-related disorder,Brugada syndrome 8|Left ventricular noncompaction cardiomyopathy|Cardiovascular phenotype|HCN4-related disorder,variation_id,disease_model_collision,Brugada|cardiomyopathy_overlap,True,False,False,1.0,8.992870452305412e-07,brugada syndrome 8|left ventricular noncompaction cardiomyopathy|cardiovascular phenotype|hcn4-related disorder | nm_005477.3(hcn4):c.1438g>a (p.gly480ser) | brugada|cardiomyopathy_overlap | brugada syndrome 8|left ventricular noncompaction cardiomyopathy|cardiovascular phenotype|hcn4-related disorder | brugada syndrome 8|left ventricular noncompaction cardiomyopathy|cardiovascular phenotype|hcn4-related disorder | variation_id | true | 1.0,False,False,False,False,False,False,True,True,False,True +11:2572904:T:C,KCNQ1,VCV002735505,2735505,NM_000218.3(KCNQ1):c.839T>C (p.Val280Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842322776997754e-07,1.0,1461492.0,8.992854277990709e-07,1.0,nfe,1.3142979991009085,8.992854277990709e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,2735505,2735505,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,8.992854277990709e-07,long qt syndrome | nm_000218.3(kcnq1):c.839t>c (p.val280ala) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +15:73329721:T:C,HCN4,VCV001504964,1504964,NM_005477.3(HCN4):c.1442A>G (p.Tyr481Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840656484121468e-07,1.0,1461848.0,8.992838103734187e-07,1.0,nfe,1.314615779706313,8.992838103734187e-07,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,1504964,1504964,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,canonical_monogenic,Brugada,False,False,True,-0.0,8.992838103734187e-07,brugada syndrome 8 | nm_005477.3(hcn4):c.1442a>g (p.tyr481cys) | brugada | brugada syndrome 8 | brugada syndrome 8 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950951:C:T,KCNH2,VCV001405357,1405357,NM_000238.4(KCNH2):c.2115G>A (p.Trp705Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840506744739651e-07,1.0,1461880.0,8.992741059416839e-07,1.0,nfe,1.3146303700421835,8.992741059416839e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1405357,1405357,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,8.992741059416839e-07,long qt syndrome | nm_000238.4(kcnh2):c.2115g>a (p.trp705ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +17:70175958:A:G,KCNJ2,VCV000519476,519476,NM_000891.3(KCNJ2):c.919A>G (p.Met307Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840478669335365e-07,1.0,1461886.0,8.992741059416839e-07,1.0,nfe,1.3146357656770435,8.992741059416839e-07,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,519476,519476,Cardiovascular phenotype|Andersen Tawil syndrome;Short QT syndrome type 3|Cardiac arrhythmia,Cardiovascular phenotype|Andersen Tawil syndrome;Short QT syndrome type 3|Cardiac arrhythmia,Cardiovascular phenotype|Andersen Tawil syndrome;Short QT syndrome type 3|Cardiac arrhythmia,variation_id,disease_model_collision,SQTS|arrhythmia,True,False,False,1.0,8.992741059416839e-07,cardiovascular phenotype|andersen tawil syndrome;short qt syndrome type 3|cardiac arrhythmia | nm_000891.3(kcnj2):c.919a>g (p.met307val) | sqts|arrhythmia | cardiovascular phenotype|andersen tawil syndrome;short qt syndrome type 3|cardiac arrhythmia | cardiovascular phenotype|andersen tawil syndrome;short qt syndrome type 3|cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +7:150951556:T:C,KCNH2,VCV002049671,2049671,NM_000238.4(KCNH2):c.1837A>G (p.Thr613Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840488027777854e-07,1.0,1461884.0,8.992708711776492e-07,1.0,nfe,1.314629238289217,8.992708711776492e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,2049671,2049671,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,8.992708711776492e-07,long qt syndrome | nm_000238.4(kcnh2):c.1837a>g (p.thr613ala) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958158:G:A,KCNH2,VCV001076382,1076382,NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,8.45374281009174e-07,,,,,,1.1829066007303187e-06,8.45374281009174e-07,global,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,1076382,1076382,Long QT syndrome|Long QT syndrome 2||Cardiac arrhythmia,Long QT syndrome|Long QT syndrome 2||Cardiac arrhythmia,Long QT syndrome|Long QT syndrome 2||Cardiac arrhythmia,variation_id,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,8.45374281009174e-07,long qt syndrome|long qt syndrome 2||cardiac arrhythmia | nm_000238.4(kcnh2):c.817c>t (p.arg273ter) | lqts|arrhythmia | long qt syndrome|long qt syndrome 2||cardiac arrhythmia | long qt syndrome|long qt syndrome 2||cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +11:2571404:G:T,KCNQ1,VCV004614411,4614411,NM_000218.3(KCNQ1):c.683+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1457628.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,4614411,4614411,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,cardiovascular phenotype | nm_000218.3(kcnq1):c.683+1g>t | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2445143:G:A,KCNQ1,VCV004531894,4531894,NM_000218.3(KCNQ1):c.45G>A (p.Trp15Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,978626.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,4531894,4531894,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.45g>a (p.trp15ter) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2571378:C:T,KCNQ1,VCV004081467,4081467,NM_000218.3(KCNQ1):c.658C>T (p.Gln220Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1460484.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,4081467,4081467,,,,unmatched,canonical_monogenic,LQTS,False,False,True,-0.0,0.0, | nm_000218.3(kcnq1):c.658c>t (p.gln220ter) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2572057:G:T,KCNQ1,VCV002904944,2904944,NM_000218.3(KCNQ1):c.728G>T (p.Arg243Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1460642.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,2904944,2904944,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.728g>t (p.arg243leu) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445447:C:A,KCNQ1,VCV001489978,1489978,NM_000218.3(KCNQ1):c.349C>A (p.Pro117Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1445140.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,1489978,1489978,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.349c>a (p.pro117thr) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2775960:C:T,KCNQ1,VCV000965523,965523,NM_000218.3(KCNQ1):c.1591C>T (p.Gln531Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1404394.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,965523,965523,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1591c>t (p.gln531ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445251:C:A,KCNQ1,VCV000933168,933168,NM_000218.3(KCNQ1):c.153C>A (p.Tyr51Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1046344.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.64; detectability=0.81,933168,933168,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,0.0,long qt syndrome|cardiac arrhythmia | nm_000218.3(kcnq1):c.153c>a (p.tyr51ter) | lqts|arrhythmia | long qt syndrome|cardiac arrhythmia | long qt syndrome|cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +11:2570756:T:C,KCNQ1,VCV000869440,869440,NM_000218.3(KCNQ1):c.604+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458098.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,869440,869440,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.604+2t>c | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445149:G:A,KCNQ1,VCV000663623,663623,NM_000218.3(KCNQ1):c.51G>A (p.Trp17Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,983778.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,663623,663623,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.51g>a (p.trp17ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2776056:T:C,KCNQ1,VCV000637975,637975,NM_000218.3(KCNQ1):c.1685+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1402144.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,637975,637975,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1685+2t>c | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445100:T:A,KCNQ1,VCV000488859,488859,NM_000218.3(KCNQ1):c.2T>A (p.Met1Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,936200.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,488859,488859,,,,unmatched,canonical_monogenic,LQTS,False,False,True,-0.0,0.0, | nm_000218.3(kcnq1):c.2t>a (p.met1lys) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2445222:G:T,KCNQ1,VCV000488698,488698,NM_000218.3(KCNQ1):c.124G>T (p.Glu42Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,987170.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,488698,488698,,,,unmatched,canonical_monogenic,LQTS,False,False,True,-0.0,0.0, | nm_000218.3(kcnq1):c.124g>t (p.glu42ter) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2572089:G:A,KCNQ1,VCV000444879,444879,NM_000218.2(KCNQ1):c.[1249G>A;760G>A],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,0.0,0.0,1460076.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,444879,444879,,,,unmatched,canonical_monogenic,LQTS,False,False,True,-0.0,0.0, | nm_000218.2(kcnq1):c.[1249g>a;760g>a] | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2445103:C:G,KCNQ1,VCV000431053,431053,NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,940006.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,431053,431053,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.5c>g (p.ala2gly) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445213:G:T,KCNQ1,VCV000375455,375455,NM_000218.3(KCNQ1):c.115G>T (p.Glu39Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,992758.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,375455,375455,"Jervell and Lange-Nielsen syndrome 1|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1","Jervell and Lange-Nielsen syndrome 1|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1","Jervell and Lange-Nielsen syndrome 1|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1",variation_id,disease_model_collision,LQTS|SQTS|arrhythmia,True,False,False,1.584962500721156,0.0,"jervell and lange-nielsen syndrome 1|short qt syndrome type 2;atrial fibrillation, familial, 3;jervell and lange-nielsen syndrome 1;long qt syndrome 1 | nm_000218.3(kcnq1):c.115g>t (p.glu39ter) | lqts|sqts|arrhythmia | jervell and lange-nielsen syndrome 1|short qt syndrome type 2;atrial fibrillation, familial, 3;jervell and lange-nielsen syndrome 1;long qt syndrome 1 | jervell and lange-nielsen syndrome 1|short qt syndrome type 2;atrial fibrillation, familial, 3;jervell and lange-nielsen syndrome 1;long qt syndrome 1 | variation_id | true | 1.584962500721156",False,False,False,False,True,False,False,True,False,True +7:150958504:T:G,KCNH2,VCV004730168,4730168,NM_000238.4(KCNH2):c.473-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1323936.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,4730168,4730168,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.473-2a>c | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974834:G:A,KCNH2,VCV004725502,4725502,NM_000238.4(KCNH2):c.184C>T (p.Arg62Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1456028.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,4725502,4725502,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.184c>t (p.arg62ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947786:C:A,KCNH2,VCV003895444,3895444,NM_000238.4(KCNH2):c.2785G>T (p.Glu929Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1381744.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3895444,3895444,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.2785g>t (p.glu929ter) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150958442:G:T,KCNH2,VCV003730888,3730888,NM_000238.4(KCNH2):c.533C>A (p.Ser178Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1311954.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3730888,3730888,,,,unmatched,canonical_monogenic,LQTS,False,False,True,-0.0,0.0, | nm_000238.4(kcnh2):c.533c>a (p.ser178ter) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150950422:T:C,KCNH2,VCV003720789,3720789,NM_000238.4(KCNH2):c.2146-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458974.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3720789,3720789,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2146-2a>g | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948486:G:A,KCNH2,VCV003720786,3720786,NM_000238.4(KCNH2):c.2650C>T (p.Gln884Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1373460.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3720786,3720786,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2650c>t (p.gln884ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948443:C:A,KCNH2,VCV003544414,3544414,NM_000238.4(KCNH2):c.2692+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1400560.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3544414,3544414,Hypertrophic cardiomyopathy 26,Hypertrophic cardiomyopathy 26,Hypertrophic cardiomyopathy 26,variation_id,canonical_monogenic,cardiomyopathy_overlap,False,False,True,-0.0,0.0,hypertrophic cardiomyopathy 26 | nm_000238.4(kcnh2):c.2692+1g>t | cardiomyopathy_overlap | hypertrophic cardiomyopathy 26 | hypertrophic cardiomyopathy 26 | variation_id | false | -0.0,False,False,False,False,False,False,True,False,False,True +7:150958110:C:A,KCNH2,VCV003338695,3338695,NM_000238.4(KCNH2):c.865G>T (p.Glu289Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1144896.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3338695,3338695,,,,unmatched,canonical_monogenic,LQTS,False,False,True,-0.0,0.0, | nm_000238.4(kcnh2):c.865g>t (p.glu289ter) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150945490:C:A,KCNH2,VCV003254535,3254535,NM_000238.4(KCNH2):c.3355G>T (p.Glu1119Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1407476.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3254535,3254535,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.3355g>t (p.glu1119ter) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958287:C:A,KCNH2,VCV002831712,2831712,NM_000238.4(KCNH2):c.688G>T (p.Glu230Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1311050.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,2831712,2831712,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.688g>t (p.glu230ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958446:C:A,KCNH2,VCV002136630,2136630,NM_000238.4(KCNH2):c.529G>T (p.Glu177Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1314472.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,2136630,2136630,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome|long qt syndrome 2 | nm_000238.4(kcnh2):c.529g>t (p.glu177ter) | lqts | long qt syndrome|long qt syndrome 2 | long qt syndrome|long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947458:G:A,KCNH2,VCV001968021,1968021,NM_000238.4(KCNH2):c.3022C>T (p.Gln1008Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1416682.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,1968021,1968021,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3022c>t (p.gln1008ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958335:C:A,KCNH2,VCV001810619,1810619,NM_000238.4(KCNH2):c.640G>T (p.Glu214Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1337032.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1810619,1810619,,,,unmatched,canonical_monogenic,LQTS,False,False,True,-0.0,0.0, | nm_000238.4(kcnh2):c.640g>t (p.glu214ter) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150974768:G:A,KCNH2,VCV001792370,1792370,NM_000238.4(KCNH2):c.250C>T (p.Gln84Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1453842.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1792370,1792370,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.250c>t (p.gln84ter) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947344:G:A,KCNH2,VCV001728012,1728012,NM_000238.4(KCNH2):c.3136C>T (p.Gln1046Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1391714.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1728012,1728012,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.3136c>t (p.gln1046ter) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150958504:T:C,KCNH2,VCV001466419,1466419,NM_000238.4(KCNH2):c.473-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1323936.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1466419,1466419,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.473-2a>g | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974786:C:T,KCNH2,VCV001197726,1197726,NM_000238.4(KCNH2):c.232G>A (p.Ala78Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1452442.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,1197726,1197726,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.232g>a (p.ala78thr) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974942:C:A,KCNH2,VCV001171507,1171507,NM_000238.4(KCNH2):c.77-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1440802.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1171507,1171507,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,canonical_monogenic,arrhythmia,False,False,True,-0.0,0.0,cardiac arrhythmia | nm_000238.4(kcnh2):c.77-1g>t | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150977837:C:T,KCNH2,VCV001066606,1066606,NM_000238.4(KCNH2):c.76+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1395200.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1066606,1066606,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.76+1g>a | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950166:A:T,KCNH2,VCV000560686,560686,NM_000238.4(KCNH2):c.2398+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,550050.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,560686,560686,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.2398+2t>a | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947327:C:A,KCNH2,VCV000373026,373026,NM_000238.4(KCNH2):c.3152+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1388730.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,373026,373026,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3152+1g>t | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +3:38550937:G:T,SCN5A,VCV004756584,4756584,NM_000335.5(SCN5A):c.5432C>A (p.Ser1811Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461814.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4756584,4756584,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,disease_model_collision,arrhythmia,True,False,False,-0.0,0.0,cardiac arrhythmia | nm_000335.5(scn5a):c.5432c>a (p.ser1811ter) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +3:38613754:G:C,SCN5A,VCV003950971,3950971,NM_000335.5(SCN5A):c.692C>G (p.Ser231Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1450430.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3950971,3950971,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.692c>g (p.ser231ter) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38597755:C:A,SCN5A,VCV003717482,3717482,NM_000335.5(SCN5A):c.2236G>T (p.Glu746Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1456158.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3717482,3717482,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,0.0, | nm_000335.5(scn5a):c.2236g>t (p.glu746ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581200:G:A,SCN5A,VCV003662749,3662749,NM_000335.5(SCN5A):c.2959C>T (p.Gln987Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458838.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3662749,3662749,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,0.0, | nm_000335.5(scn5a):c.2959c>t (p.gln987ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38560152:G:A,SCN5A,VCV003662441,3662441,NM_000335.5(SCN5A):c.4237C>T (p.Gln1413Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1459868.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3662441,3662441,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,0.0, | nm_000335.5(scn5a):c.4237c>t (p.gln1413ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38606687:C:T,SCN5A,VCV002910169,2910169,NM_000335.5(SCN5A):c.1122G>A (p.Trp374Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461218.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2910169,2910169,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,0.0, | nm_000335.5(scn5a):c.1122g>a (p.trp374ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38579496:C:T,SCN5A,VCV001965471,1965471,NM_001099404.2(SCN5A):c.3229-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1455140.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1965471,1965471,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,0.0, | nm_001099404.2(scn5a):c.3229-1g>a | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38613808:C:T,SCN5A,VCV001684121,1684121,NM_000335.5(SCN5A):c.638G>A (p.Gly213Asp),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1457634.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,1684121,1684121,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,0.0, | nm_000335.5(scn5a):c.638g>a (p.gly213asp) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38556559:C:T,SCN5A,VCV001375303,1375303,NM_000335.5(SCN5A):c.4316G>A (p.Trp1439Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461152.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1375303,1375303,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,0.0, | nm_000335.5(scn5a):c.4316g>a (p.trp1439ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38566558:C:A,SCN5A,VCV000979202,979202,NM_000335.5(SCN5A):c.3688G>T (p.Glu1230Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461610.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,979202,979202,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,False,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.3688g>t (p.glu1230ter) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38613824:C:A,SCN5A,VCV000858096,858096,NM_000335.5(SCN5A):c.622G>T (p.Glu208Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1455108.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,858096,858096,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,False,False,2.0,0.0, | nm_000335.5(scn5a):c.622g>t (p.glu208ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +21:34449585:C:T,KCNE1,VCV000547163,547163,NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,0.0,0.0,908958.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.4166666666666667,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,547163,547163,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5,variation_id,canonical_monogenic,LQTS,False,False,True,-0.0,0.0,jervell and lange-nielsen syndrome 2|long qt syndrome 5 | nm_000219.6(kcne1):c.50g>a (p.trp17ter) | lqts | jervell and lange-nielsen syndrome 2|long qt syndrome 5 | jervell and lange-nielsen syndrome 2|long qt syndrome 5 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +1:237828429:T:C,RYR2,VCV004746934,4746934,NM_001035.3(RYR2):c.14639T>C (p.Val4880Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1413372.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,4746934,4746934,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14639t>c (p.val4880ala) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237795313:C:A,RYR2,VCV002828493,2828493,NM_001035.3(RYR2):c.13938C>A (p.Asp4646Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1276004.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,2828493,2828493,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.13938c>a (p.asp4646glu) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237491911:G:T,RYR2,VCV002737123,2737123,NM_001035.3(RYR2):c.1814G>T (p.Gly605Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1129636.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,2737123,2737123,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.1814g>t (p.gly605val) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237772037:G:T,RYR2,VCV002203008,2203008,NM_001035.3(RYR2):c.11583G>T (p.Gln3861His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1394334.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,2203008,2203008,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.11583g>t (p.gln3861his) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237778753:C:A,RYR2,VCV001804987,1804987,NM_001035.3(RYR2):c.11863C>A (p.Gln3955Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1448574.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1804987,1804987,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.11863c>a (p.gln3955lys) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237042549:G:T,RYR2,VCV001678118,1678118,NM_001035.3(RYR2):c.28G>T (p.Glu10Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1108862.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1678118,1678118,,,,unmatched,disease_model_collision,CPVT|SADS,True,False,False,1.0,0.0, | nm_001035.3(ryr2):c.28g>t (p.glu10ter) | cpvt|sads | | | unmatched | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237772077:G:T,RYR2,VCV001480581,1480581,NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1386722.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,1480581,1480581,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2,variation_id,disease_model_collision,CPVT|arrhythmia|cardiomyopathy_overlap,True,False,False,1.584962500721156,0.0,ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|catecholaminergic polymorphic ventricular tachycardia 1|arrhythmogenic right ventricular dysplasia 2 | nm_001035.3(ryr2):c.11623g>t (p.val3875leu) | cpvt|arrhythmia|cardiomyopathy_overlap | ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|catecholaminergic polymorphic ventricular tachycardia 1|arrhythmogenic right ventricular dysplasia 2 | ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|catecholaminergic polymorphic ventricular tachycardia 1|arrhythmogenic right ventricular dysplasia 2 | variation_id | true | 1.584962500721156,False,False,False,False,False,True,True,True,False,True +1:237828428:G:A,RYR2,VCV001439521,1439521,NM_001035.3(RYR2):c.14638G>A (p.Val4880Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1413512.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1439521,1439521,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14638g>a (p.val4880ile) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237772075:C:T,RYR2,VCV001328938,1328938,NM_001035.3(RYR2):c.11621C>T (p.Thr3874Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,,,,,,1.0,0.0,global,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1328938,1328938,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.11621c>t (p.thr3874ile) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237772033:C:T,RYR2,VCV001035886,1035886,NM_001035.3(RYR2):c.11579C>T (p.Thr3860Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,,,,,,1.0,0.0,global,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1035886,1035886,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia | nm_001035.3(ryr2):c.11579c>t (p.thr3860ile) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia | catecholaminergic polymorphic ventricular tachycardia | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784046:G:A,RYR2,VCV001021015,1021015,NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1461680.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,1021015,1021015,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | nm_001035.3(ryr2):c.12334g>a (p.asp4112asn) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237783718:G:A,RYR2,VCV000869430,869430,NM_001035.3(RYR2):c.12006G>A (p.Met4002Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1459208.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,869430,869430,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12006g>a (p.met4002ile) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237772044:A:G,RYR2,VCV000656670,656670,NM_001035.3(RYR2):c.11590A>G (p.Asn3864Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1400372.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,656670,656670,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.11590a>g (p.asn3864asp) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237772078:T:C,RYR2,VCV000581079,581079,NM_001035.3(RYR2):c.11624T>C (p.Val3875Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1384914.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,581079,581079,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.11624t>c (p.val3875ala) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237369568:A:G,RYR2,VCV000572162,572162,NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1412948.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,572162,572162,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.344a>g (p.tyr115cys) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237042565:G:C,RYR2,VCV000463600,463600,NM_001035.3(RYR2):c.44G>C (p.Arg15Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1109590.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,463600,463600,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.44g>c (p.arg15pro) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237772077:G:A,RYR2,VCV000404183,404183,NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1386722.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,404183,404183,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | nm_001035.3(ryr2):c.11623g>a (p.val3875ile) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115705191:C:T,CASQ2,VCV002754358,2754358,NM_001232.4(CASQ2):c.939+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1449556.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2754358,2754358,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.939+1g>a | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115726993:T:A,CASQ2,VCV002505552,2505552,NM_001232.4(CASQ2):c.736A>T (p.Arg246Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1209268.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2505552,2505552,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 2 | nm_001232.4(casq2):c.736a>t (p.arg246ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 2 | catecholaminergic polymorphic ventricular tachycardia 2 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115702920:C:T,CASQ2,VCV001457736,1457736,NM_001232.4(CASQ2):c.1014+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1459946.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1457736,1457736,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.1014+1g>a | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123512333:C:A,TRDN,VCV003894738,3894738,NM_006073.4(TRDN):c.580G>T (p.Glu194Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1350466.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3894738,3894738,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|SADS,True,False,False,1.0,0.0,cardiovascular phenotype | nm_006073.4(trdn):c.580g>t (p.glu194ter) | cpvt|sads | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,True,False,False,False,False,False,True,True +6:123438943:C:T,TRDN,VCV003717909,3717909,NM_006073.4(TRDN):c.991+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1406010.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3717909,3717909,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.991+1g>a | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123547340:C:A,TRDN,VCV002762883,2762883,NM_006073.4(TRDN):c.424G>T (p.Glu142Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1302576.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,2762883,2762883,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.424g>t (p.glu142ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123278327:C:A,TRDN,VCV002434224,2434224,NM_006073.4(TRDN):c.1558G>T (p.Glu520Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1144364.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,2434224,2434224,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 5 | nm_006073.4(trdn):c.1558g>t (p.glu520ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 5 | catecholaminergic polymorphic ventricular tachycardia 5 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123548540:C:T,TRDN,VCV001799347,1799347,NM_006073.4(TRDN):c.305G>A (p.Trp102Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1423754.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,1799347,1799347,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|SADS,True,False,False,1.0,0.0,cardiovascular phenotype | nm_006073.4(trdn):c.305g>a (p.trp102ter) | cpvt|sads | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,True,False,False,False,False,False,True,True +6:123548453:C:T,TRDN,VCV001517713,1517713,NM_006073.4(TRDN):c.391+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1401032.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.39; detectability=0.81,1517713,1517713,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,disease_model_collision,CPVT|arrhythmia,True,False,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 1;catecholaminergic polymorphic ventricular tachycardia 5 | nm_006073.4(trdn):c.391+1g>a | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 1;catecholaminergic polymorphic ventricular tachycardia 5 | catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia 1;catecholaminergic polymorphic ventricular tachycardia 5 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +2:47160803:C:G,CALM2,VCV001467722,1467722,NM_001743.6(CALM2):c.423G>C (p.Glu141Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1220958.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.75,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.75; detectability=0.81,1467722,1467722,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,disease_model_collision,LQTS,True,False,False,-0.0,0.0,long qt syndrome 1 | nm_001743.6(calm2):c.423g>c (p.glu141asp) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +4:113264996:G:A,ANK2,VCV003721367,3721367,NM_001148.6(ANK2):c.1485+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1405178.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3721367,3721367,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,False,False,-0.0,0.0,long qt syndrome | nm_001148.6(ank2):c.1485+1g>a | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +4:113264927:C:T,ANK2,VCV002446019,2446019,NM_001148.6(ANK2):c.1417C>T (p.Arg473Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1415518.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2446019,2446019,See cases,See cases,See cases,variation_id,disease_model_collision,LQTS|arrhythmia,True,False,False,1.0,0.0,see cases | nm_001148.6(ank2):c.1417c>t (p.arg473ter) | lqts|arrhythmia | see cases | see cases | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +12:2595878:C:T,CACNA1C,VCV003899523,3899523,NM_000719.7(CACNA1C):c.2668C>T (p.Arg890Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1461100.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,3899523,3899523,,,,unmatched,disease_model_collision,Brugada|LQTS,True,False,False,1.0,0.0, | nm_000719.7(cacna1c):c.2668c>t (p.arg890cys) | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2566430:G:A,CACNA1C,VCV003601972,3601972,NM_000719.7(CACNA1C):c.1517G>A (p.Trp506Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1440630.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,3601972,3601972,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,False,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.1517g>a (p.trp506ter) | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2566465:C:A,CACNA1C,VCV003233417,3233417,NM_000719.7(CACNA1C):c.1552C>A (p.Arg518Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,0.0,0.0,1443586.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,3233417,3233417,Timothy syndrome;Long QT syndrome,Timothy syndrome;Long QT syndrome,Timothy syndrome;Long QT syndrome,variation_id,disease_model_collision,LQTS,True,False,False,-0.0,0.0,timothy syndrome;long qt syndrome | nm_000719.7(cacna1c):c.1552c>a (p.arg518ser) | lqts | timothy syndrome;long qt syndrome | timothy syndrome;long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +12:2581622:C:T,CACNA1C,VCV001707563,1707563,NM_000719.7(CACNA1C):c.1928C>T (p.Ser643Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1426284.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,1707563,1707563,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,disease_model_collision,Brugada|LQTS,True,False,False,1.0,0.0,timothy syndrome | nm_000719.7(cacna1c):c.1928c>t (p.ser643phe) | brugada|lqts | timothy syndrome | timothy syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2666684:A:G,CACNA1C,VCV001218634,1218634,NM_000719.7(CACNA1C):c.4527-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1427552.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,1218634,1218634,,,,unmatched,disease_model_collision,Brugada|LQTS,True,False,False,1.0,0.0, | nm_000719.7(cacna1c):c.4527-2a>g | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +11:2571331:T:TC,KCNQ1,VCV004811016,4811016,NM_000218.3(KCNQ1):c.612dup (p.Val205fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4811016,4811016,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.612dup (p.val205fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2585246:A:AGCAGAAGCAGAG,KCNQ1,VCV004750132,4750132,NM_000218.3(KCNQ1):c.1077_1088dup (p.Lys362_His363insGlnArgGlnLys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4750132,4750132,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1077_1088dup (p.lys362_his363insglnargglnlys) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445473:C:G,KCNQ1,VCV004732891,4732891,NM_000218.3(KCNQ1):c.375C>G (p.Tyr125Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4732891,4732891,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.375c>g (p.tyr125ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2778034:C:CA,KCNQ1,VCV004719475,4719475,NM_000218.3(KCNQ1):c.1793dup (p.Val599fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4719475,4719475,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1793dup (p.val599fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2527967:GT:G,KCNQ1,VCV004714005,4714005,NM_000218.3(KCNQ1):c.427del (p.Ser143fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4714005,4714005,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.427del (p.ser143fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583471:C:A,KCNQ1,VCV004709530,4709530,NM_000218.3(KCNQ1):c.958C>A (p.Pro320Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4709530,4709530,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.958c>a (p.pro320thr) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2777975:G:A,KCNQ1,VCV004688928,4688928,NM_000218.3(KCNQ1):c.1733-1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4688928,4688928,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1733-1g>a | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572936:TC:T,KCNQ1,VCV004278376,4278376,NM_000218.3(KCNQ1):c.872del (p.Glu290_Ser291insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4278376,4278376,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.872del (p.glu290_ser291inster) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2768837:ACTGCAGG:A,KCNQ1,VCV004090692,4090692,NM_000218.3(KCNQ1):c.1515-2_1519del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4090692,4090692,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000218.3(kcnq1):c.1515-2_1519del | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2778007:C:CA,KCNQ1,VCV004084700,4084700,NM_000218.3(KCNQ1):c.1764_1765insA (p.Gly589fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4084700,4084700,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000218.3(kcnq1):c.1764_1765insa (p.gly589fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2777984:AAGGATCGCGGC:A,KCNQ1,VCV004084699,4084699,NM_000218.3(KCNQ1):c.1744_1754del (p.Asp582fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4084699,4084699,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000218.3(kcnq1):c.1744_1754del (p.asp582fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2775999:CAGTAC:GTGAG,KCNQ1,VCV004076475,4076475,NM_000218.3(KCNQ1):c.1630_1635delinsGTGAG (p.Gln544fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4076475,4076475,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000218.3(kcnq1):c.1630_1635delinsgtgag (p.gln544fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2572977:G:A,KCNQ1,VCV004070996,4070996,NM_000218.3(KCNQ1):c.912G>A (p.Trp304Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4070996,4070996,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,jervell and lange-nielsen syndrome 1 | nm_000218.3(kcnq1):c.912g>a (p.trp304ter) | lqts | jervell and lange-nielsen syndrome 1 | jervell and lange-nielsen syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2778014:C:G,KCNQ1,VCV003901502,3901502,NM_000218.3(KCNQ1):c.1771C>G (p.Arg591Gly),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3901502,3901502,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1771c>g (p.arg591gly) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2585274:C:G,KCNQ1,VCV003898708,3898708,NM_000218.3(KCNQ1):c.1095C>G (p.Asn365Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3898708,3898708,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000218.3(kcnq1):c.1095c>g (p.asn365lys) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2585218:C:T,KCNQ1,VCV003895224,3895224,NM_000218.3(KCNQ1):c.1039C>T (p.Leu347Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3895224,3895224,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000218.3(kcnq1):c.1039c>t (p.leu347phe) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2768895:C:G,KCNQ1,VCV003895223,3895223,NM_000218.3(KCNQ1):c.1566C>G (p.Tyr522Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895223,3895223,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000218.3(kcnq1):c.1566c>g (p.tyr522ter) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2775970:AG:A,KCNQ1,VCV003894930,3894930,NM_000218.3(KCNQ1):c.1602del (p.Lys534fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894930,3894930,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000218.3(kcnq1):c.1602del (p.lys534fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2775959:G:C,KCNQ1,VCV003894017,3894017,NM_000218.3(KCNQ1):c.1591-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894017,3894017,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,unanchored_assertion_state,arrhythmia,False,True,False,-0.0,0.0,cardiac arrhythmia | nm_000218.3(kcnq1):c.1591-1g>c | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2662020:TTCGCC:T,KCNQ1,VCV003893245,3893245,NM_000218.3(KCNQ1):c.1454_1458del (p.Ser484_Phe485insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3893245,3893245,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1454_1458del (p.ser484_phe485inster) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2662017:AGC:A,KCNQ1,VCV003893242,3893242,NM_000218.3(KCNQ1):c.1451_1452del (p.Ser484fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3893242,3893242,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1451_1452del (p.ser484fs) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2571344:C:TT,KCNQ1,VCV003862988,3862988,NM_000218.3(KCNQ1):c.624delinsTT (p.Ser209fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3862988,3862988,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000218.3(kcnq1):c.624delinstt (p.ser209fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2571394:C:A,KCNQ1,VCV003774956,3774956,NM_000218.3(KCNQ1):c.674C>A (p.Ser225Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3774956,3774956,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000218.3(kcnq1):c.674c>a (p.ser225ter) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2583446:CACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAG:C,KCNQ1,VCV003769591,3769591,NM_000218.3(KCNQ1):c.941_985del (p.Gly314_Ile328del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3769591,3769591,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.941_985del (p.gly314_ile328del) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2768920:G:C,KCNQ1,VCV003726879,3726879,NM_000218.3(KCNQ1):c.1590+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3726879,3726879,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1590+1g>c | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2527959:A:C,KCNQ1,VCV003719869,3719869,NM_000218.3(KCNQ1):c.418A>C (p.Ser140Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3719869,3719869,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.418a>c (p.ser140arg) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2570713:G:A,KCNQ1,VCV003693769,3693769,NM_000218.3(KCNQ1):c.563G>A (p.Trp188Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3693769,3693769,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.563g>a (p.trp188ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2587651:ACT:A,KCNQ1,VCV003669101,3669101,NM_000218.3(KCNQ1):c.1213_1214del (p.Leu405fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3669101,3669101,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1213_1214del (p.leu405fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572945:GTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTG:CAC,KCNQ1,VCV003660922,3660922,NM_000218.3(KCNQ1):c.880_921+630delinsCAC,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3660922,3660922,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.880_921+630delinscac | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2768890:C:T,KCNQ1,VCV003659274,3659274,NM_000218.3(KCNQ1):c.1561C>T (p.Gln521Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3659274,3659274,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1561c>t (p.gln521ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2528014:G:A,KCNQ1,VCV003659247,3659247,NM_000218.3(KCNQ1):c.473G>A (p.Trp158Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3659247,3659247,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.473g>a (p.trp158ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445162:G:GGC,KCNQ1,VCV003648787,3648787,NM_000218.3(KCNQ1):c.67_68dup (p.Arg24fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3648787,3648787,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.67_68dup (p.arg24fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572032:A:C,KCNQ1,VCV003641656,3641656,NM_000218.3(KCNQ1):c.703A>C (p.Ile235Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3641656,3641656,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.703a>c (p.ile235leu) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572026:C:A,KCNQ1,VCV003603667,3603667,NM_000218.3(KCNQ1):c.697C>A (p.Leu233Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3603667,3603667,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.697c>a (p.leu233met) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2570626:A:G,KCNQ1,VCV003601179,3601179,NM_000218.3(KCNQ1):c.478-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3601179,3601179,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,jervell and lange-nielsen syndrome 1 | nm_000218.3(kcnq1):c.478-2a>g | lqts | jervell and lange-nielsen syndrome 1 | jervell and lange-nielsen syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2776985:G:T,KCNQ1,VCV003392793,3392793,NM_000218.3(KCNQ1):c.1686-1G>T,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3392793,3392793,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1686-1g>t | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2661995:GC:G,KCNQ1,VCV003383201,3383201,NM_000218.3(KCNQ1):c.1432del (p.His478fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3383201,3383201,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1432del (p.his478fs) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2588714:TAAAG:T,KCNQ1,VCV003383071,3383071,NM_000218.3(KCNQ1):c.1257_1260del (p.Lys421fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3383071,3383071,"Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3","Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3","Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3",variation_id,disease_model_collision,LQTS|SQTS|arrhythmia,True,True,False,1.584962500721156,0.0,"short qt syndrome type 2;long qt syndrome 1;jervell and lange-nielsen syndrome 1;atrial fibrillation, familial, 3 | nm_000218.3(kcnq1):c.1257_1260del (p.lys421fs) | lqts|sqts|arrhythmia | short qt syndrome type 2;long qt syndrome 1;jervell and lange-nielsen syndrome 1;atrial fibrillation, familial, 3 | short qt syndrome type 2;long qt syndrome 1;jervell and lange-nielsen syndrome 1;atrial fibrillation, familial, 3 | variation_id | true | 1.584962500721156",False,False,False,False,True,False,False,True,False,True +11:2572073:G:A,KCNQ1,VCV003382790,3382790,NM_000218.3(KCNQ1):c.744G>A (p.Trp248Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3382790,3382790,"Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3","Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3","Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3",variation_id,disease_model_collision,LQTS|SQTS|arrhythmia,True,True,False,1.584962500721156,0.0,"short qt syndrome type 2;long qt syndrome 1;jervell and lange-nielsen syndrome 1;atrial fibrillation, familial, 3 | nm_000218.3(kcnq1):c.744g>a (p.trp248ter) | lqts|sqts|arrhythmia | short qt syndrome type 2;long qt syndrome 1;jervell and lange-nielsen syndrome 1;atrial fibrillation, familial, 3 | short qt syndrome type 2;long qt syndrome 1;jervell and lange-nielsen syndrome 1;atrial fibrillation, familial, 3 | variation_id | true | 1.584962500721156",False,False,False,False,True,False,False,True,False,True +11:2583540:C:G,KCNQ1,VCV003376696,3376696,NM_000218.3(KCNQ1):c.1027C>G (p.Pro343Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376696,3376696,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1027c>g (p.pro343ala) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2585209:CA:C,KCNQ1,VCV003376665,3376665,NM_000218.3(KCNQ1):c.1033-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3376665,3376665,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1033-2del | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445419:G:C,KCNQ1,VCV003376650,3376650,NM_000218.3(KCNQ1):c.321G>C (p.Gln107His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376650,3376650,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.321g>c (p.gln107his) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2585213:G:T,KCNQ1,VCV003338779,3338779,NM_000218.3(KCNQ1):c.1034G>T (p.Gly345Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3338779,3338779,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000218.3(kcnq1):c.1034g>t (p.gly345val) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2570658:G:A,KCNQ1,VCV003338330,3338330,NM_000218.3(KCNQ1):c.508G>A (p.Glu170Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3338330,3338330,Atrial fibrillation,Atrial fibrillation,Atrial fibrillation,variation_id,unanchored_assertion_state,arrhythmia,False,True,False,-0.0,0.0,atrial fibrillation | nm_000218.3(kcnq1):c.508g>a (p.glu170lys) | arrhythmia | atrial fibrillation | atrial fibrillation | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2445320:AG:A,KCNQ1,VCV003337204,3337204,NM_000218.3(KCNQ1):c.223del (p.Val75fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3337204,3337204,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000218.3(kcnq1):c.223del (p.val75fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2445305:GC:G,KCNQ1,VCV003335922,3335922,NM_000218.3(KCNQ1):c.210del (p.Ala71fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3335922,3335922,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,jervell and lange-nielsen syndrome 1 | nm_000218.3(kcnq1):c.210del (p.ala71fs) | lqts | jervell and lange-nielsen syndrome 1 | jervell and lange-nielsen syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2778014:C:A,KCNQ1,VCV003235934,3235934,NM_000218.3(KCNQ1):c.1771C>A (p.Arg591Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3235934,3235934,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1771c>a (p.arg591ser) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2847776:CTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGCAGCGGCGGCCCCCCCAGAGAGGGCGGGGCCCACATCACCCAGCCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCCACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGAGGAGGGGATGGGGCTGGGGGATGGGCCTGAGTGAGAGGGGAGGCCAAGAGTGGCCCCACCTGGCCCTCTCTGAAGGAGGCCACCTCCTAAAAGGCCCAGAGAGAAGAGCCCCACTCTCAGAGGCCCCAATACCCCA:C,KCNQ1,VCV003235891,3235891,NM_000218.3(KCNQ1):c.1812_*143del (p.Gln604_Ter677delinsXaa),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3235891,3235891,"Atrial fibrillation, familial, 3;Short QT syndrome type 2;Long QT syndrome 1","Atrial fibrillation, familial, 3;Short QT syndrome type 2;Long QT syndrome 1","Atrial fibrillation, familial, 3;Short QT syndrome type 2;Long QT syndrome 1",variation_id,disease_model_collision,LQTS|SQTS|arrhythmia,True,True,False,1.584962500721156,0.0,"atrial fibrillation, familial, 3;short qt syndrome type 2;long qt syndrome 1 | nm_000218.3(kcnq1):c.1812_*143del (p.gln604_ter677delinsxaa) | lqts|sqts|arrhythmia | atrial fibrillation, familial, 3;short qt syndrome type 2;long qt syndrome 1 | atrial fibrillation, familial, 3;short qt syndrome type 2;long qt syndrome 1 | variation_id | true | 1.584962500721156",False,False,False,False,True,False,False,True,False,True +11:2777033:G:T,KCNQ1,VCV003075923,3075923,NM_000218.3(KCNQ1):c.1732+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3075923,3075923,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,jervell and lange-nielsen syndrome | nm_000218.3(kcnq1):c.1732+1g>t | lqts | jervell and lange-nielsen syndrome | jervell and lange-nielsen syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2572976:G:T,KCNQ1,VCV002982293,2982293,NM_000218.3(KCNQ1):c.911G>T (p.Trp304Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2982293,2982293,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.911g>t (p.trp304leu) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2587564:CCTCAGACCGCATGGAGGTGCTATGCTG:C,KCNQ1,VCV002971269,2971269,NM_000218.3(KCNQ1):c.1129-4_1151del,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2971269,2971269,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1129-4_1151del | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572980:G:C,KCNQ1,VCV002837284,2837284,NM_000218.3(KCNQ1):c.915G>C (p.Trp305Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2837284,2837284,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|long qt syndrome 1 | nm_000218.3(kcnq1):c.915g>c (p.trp305cys) | lqts | long qt syndrome|long qt syndrome 1 | long qt syndrome|long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572047:CACGTCG:C,KCNQ1,VCV002836375,2836375,NM_000218.3(KCNQ1):c.721_726del (p.Val241_Asp242del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2836375,2836375,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.721_726del (p.val241_asp242del) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2570735:G:GA,KCNQ1,VCV002828480,2828480,NM_000218.3(KCNQ1):c.587dup (p.Pro197fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2828480,2828480,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.587dup (p.pro197fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2571383:GT:G,KCNQ1,VCV002814371,2814371,NM_000218.3(KCNQ1):c.666del (p.Phe222fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2814371,2814371,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.666del (p.phe222fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2585274:CC:AT,KCNQ1,VCV002811762,2811762,NM_000218.3(KCNQ1):c.1095_1096delinsAT (p.Asn365_Arg366delinsLysTrp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2811762,2811762,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1095_1096delinsat (p.asn365_arg366delinslystrp) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2585215:AT:A,KCNQ1,VCV002807267,2807267,NM_000218.3(KCNQ1):c.1038del (p.Gly348fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2807267,2807267,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1038del (p.gly348fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2777020:AT:A,KCNQ1,VCV002773484,2773484,NM_000218.3(KCNQ1):c.1721del (p.Ile574fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2773484,2773484,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,cardiac arrhythmia|long qt syndrome | nm_000218.3(kcnq1):c.1721del (p.ile574fs) | lqts|arrhythmia | cardiac arrhythmia|long qt syndrome | cardiac arrhythmia|long qt syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +11:2588712:G:A,KCNQ1,VCV002773474,2773474,NM_000218.3(KCNQ1):c.1252-1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2773474,2773474,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,cardiac arrhythmia|long qt syndrome | nm_000218.3(kcnq1):c.1252-1g>a | lqts|arrhythmia | cardiac arrhythmia|long qt syndrome | cardiac arrhythmia|long qt syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +11:2776003:A:T,KCNQ1,VCV002770494,2770494,NM_000218.3(KCNQ1):c.1634A>T (p.Tyr545Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2770494,2770494,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1634a>t (p.tyr545phe) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445486:T:G,KCNQ1,VCV002748943,2748943,NM_000218.3(KCNQ1):c.386+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2748943,2748943,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.386+2t>g | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2570677:G:C,KCNQ1,VCV002747611,2747611,NM_000218.3(KCNQ1):c.527G>C (p.Trp176Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2747611,2747611,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.527g>c (p.trp176ser) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2662041:GA:G,KCNQ1,VCV002725492,2725492,NM_000218.3(KCNQ1):c.1476del (p.Glu494fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2725492,2725492,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1476del (p.glu494fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2528019:G:C,KCNQ1,VCV002724418,2724418,NM_000218.3(KCNQ1):c.477+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2724418,2724418,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.477+1g>c | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572854:AAC:A,KCNQ1,VCV002723186,2723186,NM_000218.3(KCNQ1):c.790_791del (p.Thr264fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2723186,2723186,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.790_791del (p.thr264fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572978:T:A,KCNQ1,VCV002719407,2719407,NM_000218.3(KCNQ1):c.913T>A (p.Trp305Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2719407,2719407,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.913t>a (p.trp305arg) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2768884:CGCAT:C,KCNQ1,VCV002708573,2708573,NM_000218.3(KCNQ1):c.1559_1562del (p.Met520fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2708573,2708573,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1559_1562del (p.met520fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2585300:TC:T,KCNQ1,VCV002692770,2692770,NM_000218.3(KCNQ1):c.1122del (p.Ile375fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2692770,2692770,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1122del (p.ile375fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2778039:T:C,KCNQ1,VCV002587406,2587406,NM_000218.3(KCNQ1):c.1794+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2587406,2587406,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000218.3(kcnq1):c.1794+2t>c | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2572976:G:A,KCNQ1,VCV002587403,2587403,NM_000218.3(KCNQ1):c.911G>A (p.Trp304Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2587403,2587403,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000218.3(kcnq1):c.911g>a (p.trp304ter) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2445453:G:GC,KCNQ1,VCV002577445,2577445,NM_000218.3(KCNQ1):c.355_356insC (p.Gly119fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2577445,2577445,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.355_356insc (p.gly119fs) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2587660:T:TG,KCNQ1,VCV002575074,2575074,NM_000218.3(KCNQ1):c.1219_1220insG (p.Ser407fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575074,2575074,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1219_1220insg (p.ser407fs) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2585246:AGCAGAAGCAGAG:A,KCNQ1,VCV002575071,2575071,NM_000218.3(KCNQ1):c.1077_1088del (p.Gln359_Lys362del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575071,2575071,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1077_1088del (p.gln359_lys362del) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2527927:G:C,KCNQ1,VCV002575070,2575070,NM_000218.3(KCNQ1):c.387-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575070,2575070,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.387-1g>c | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2662053:CT:C,KCNQ1,VCV002575068,2575068,NM_000218.3(KCNQ1):c.1487del (p.Leu496fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575068,2575068,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1487del (p.leu496fs) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2527938:GT:G,KCNQ1,VCV002575067,2575067,NM_000218.3(KCNQ1):c.398del (p.Val133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2575067,2575067,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.398del (p.val133fs) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2778038:G:A,KCNQ1,VCV002575066,2575066,NM_000218.3(KCNQ1):c.1794+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2575066,2575066,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1794+1g>a | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572850:T:A,KCNQ1,VCV002575065,2575065,NM_000218.3(KCNQ1):c.785T>A (p.Leu262Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575065,2575065,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.785t>a (p.leu262gln) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583533:T:G,KCNQ1,VCV002575064,2575064,NM_000218.3(KCNQ1):c.1020T>G (p.Phe340Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575064,2575064,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1020t>g (p.phe340leu) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572975:T:G,KCNQ1,VCV002575063,2575063,NM_000218.3(KCNQ1):c.910T>G (p.Trp304Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575063,2575063,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.910t>g (p.trp304gly) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572852:AT:A,KCNQ1,VCV002574107,2574107,NM_000218.3(KCNQ1):c.788del (p.Ile263fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2574107,2574107,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.788del (p.ile263fs) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2585297:C:A,KCNQ1,VCV002574106,2574106,NM_000218.3(KCNQ1):c.1118C>A (p.Ser373Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2574106,2574106,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1118c>a (p.ser373ter) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572882:C:A,KCNQ1,VCV002574013,2574013,NM_000218.3(KCNQ1):c.817C>A (p.Leu273Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2574013,2574013,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.817c>a (p.leu273ile) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2768908:A:G,KCNQ1,VCV002574002,2574002,NM_000218.3(KCNQ1):c.1579A>G (p.Lys527Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2574002,2574002,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1579a>g (p.lys527glu) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572040:GATGCTAC:G,KCNQ1,VCV002567545,2567545,NM_000218.3(KCNQ1):c.713_719del (p.Met238fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2567545,2567545,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000218.3(kcnq1):c.713_719del (p.met238fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2778024:G:T,KCNQ1,VCV002502702,2502702,NM_000218.3(KCNQ1):c.1781G>T (p.Arg594Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2502702,2502702,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1781g>t (p.arg594leu) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445344:GC:G,KCNQ1,VCV002502315,2502315,NM_000218.3(KCNQ1):c.248del (p.Pro83fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2502315,2502315,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.248del (p.pro83fs) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572862:T:A,KCNQ1,VCV002498480,2498480,NM_000218.3(KCNQ1):c.797T>A (p.Leu266Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2498480,2498480,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000218.3(kcnq1):c.797t>a (p.leu266gln) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2583443:CA:C,KCNQ1,VCV002453279,2453279,NM_000218.3(KCNQ1):c.931del (p.Thr311fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2453279,2453279,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000218.3(kcnq1):c.931del (p.thr311fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2570685:G:C,KCNQ1,VCV002446426,2446426,NM_000218.3(KCNQ1):c.535G>C (p.Gly179Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2446426,2446426,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.535g>c (p.gly179arg) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583546:G:T,KCNQ1,VCV002136962,2136962,NM_000218.3(KCNQ1):c.1032+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2136962,2136962,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1032+1g>t | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572104:C:G,KCNQ1,VCV002136957,2136957,NM_000218.3(KCNQ1):c.775C>G (p.Arg259Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2136957,2136957,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.775c>g (p.arg259gly) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583460:G:C,KCNQ1,VCV002130527,2130527,NM_000218.3(KCNQ1):c.947G>C (p.Gly316Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2130527,2130527,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.947g>c (p.gly316ala) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2768911:A:AAT,KCNQ1,VCV002129901,2129901,NM_000218.3(KCNQ1):c.1583_1584insTA (p.Lys528fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2129901,2129901,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1583_1584insta (p.lys528fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583470:GC:TT,KCNQ1,VCV002129108,2129108,NM_000218.3(KCNQ1):c.957_958delinsTT (p.Pro320Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2129108,2129108,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.957_958delinstt (p.pro320ser) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2570701:ACGTGGGCCTCTGGGGGCGGCTG:A,KCNQ1,VCV002102490,2102490,NM_000218.3(KCNQ1):c.554_575del (p.Val185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2102490,2102490,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.554_575del (p.val185fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445430:A:C,KCNQ1,VCV002035007,2035007,NM_000218.3(KCNQ1):c.332A>C (p.Tyr111Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2035007,2035007,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.332a>c (p.tyr111ser) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2588739:C:CA,KCNQ1,VCV002028871,2028871,NM_000218.3(KCNQ1):c.1281dup (p.Asp428fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2028871,2028871,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1281dup (p.asp428fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2776027:TG:T,KCNQ1,VCV002023188,2023188,NM_000218.3(KCNQ1):c.1660del (p.Val554fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2023188,2023188,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|cardiovascular phenotype | nm_000218.3(kcnq1):c.1660del (p.val554fs) | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2587681:A:T,KCNQ1,VCV002017757,2017757,NM_000218.3(KCNQ1):c.1240A>T (p.Lys414Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2017757,2017757,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1240a>t (p.lys414ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583546:G:C,KCNQ1,VCV002017498,2017498,NM_000218.3(KCNQ1):c.1032+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2017498,2017498,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1032+1g>c | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2571346:C:CA,KCNQ1,VCV002004187,2004187,NM_000218.3(KCNQ1):c.626_627insA (p.Met210fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2004187,2004187,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.626_627insa (p.met210fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2768888:T:A,KCNQ1,VCV002000331,2000331,NM_000218.3(KCNQ1):c.1559T>A (p.Met520Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2000331,2000331,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1559t>a (p.met520lys) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2587665:CA:C,KCNQ1,VCV001879152,1879152,NM_000218.3(KCNQ1):c.1225del (p.Ser409fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1879152,1879152,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000218.3(kcnq1):c.1225del (p.ser409fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2571364:TG:T,KCNQ1,VCV001802109,1802109,NM_000218.3(KCNQ1):c.647del (p.Gly216fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1802109,1802109,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000218.3(kcnq1):c.647del (p.gly216fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2445203:C:CT,KCNQ1,VCV001786030,1786030,NM_000218.3(KCNQ1):c.107dup (p.Ser37fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1786030,1786030,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_000218.3(kcnq1):c.107dup (p.ser37fs) | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2776986:G:C,KCNQ1,VCV001778018,1778018,NM_000218.3(KCNQ1):c.1686G>C (p.Arg562Ser),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1778018,1778018,"Cardiovascular phenotype|Long QT syndrome|Atrial fibrillation, familial, 3","Cardiovascular phenotype|Long QT syndrome|Atrial fibrillation, familial, 3","Cardiovascular phenotype|Long QT syndrome|Atrial fibrillation, familial, 3",variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,"cardiovascular phenotype|long qt syndrome|atrial fibrillation, familial, 3 | nm_000218.3(kcnq1):c.1686g>c (p.arg562ser) | lqts|arrhythmia | cardiovascular phenotype|long qt syndrome|atrial fibrillation, familial, 3 | cardiovascular phenotype|long qt syndrome|atrial fibrillation, familial, 3 | variation_id | true | 1.0",False,False,False,False,True,False,False,True,False,True +11:2585210:A:AGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCT,KCNQ1,VCV001771701,1771701,NM_000218.3(KCNQ1):c.1033-1_1117dup,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,splice_or_intronic,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1771701,1771701,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,cardiovascular phenotype|long qt syndrome|cardiac arrhythmia | nm_000218.3(kcnq1):c.1033-1_1117dup | lqts|arrhythmia | cardiovascular phenotype|long qt syndrome|cardiac arrhythmia | cardiovascular phenotype|long qt syndrome|cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +11:2588779:G:GTCCCCCATATCACGTGCGA,KCNQ1,VCV001769838,1769838,NM_000218.3(KCNQ1):c.1319_1337dup (p.Glu449fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1769838,1769838,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000218.3(kcnq1):c.1319_1337dup (p.glu449fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2583481:G:A,KCNQ1,VCV001723453,1723453,NM_000218.3(KCNQ1):c.968G>A (p.Trp323Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1723453,1723453,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.968g>a (p.trp323ter) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572886:T:A,KCNQ1,VCV001711271,1711271,NM_000218.3(KCNQ1):c.821T>A (p.Ile274Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1711271,1711271,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000218.3(kcnq1):c.821t>a (p.ile274asn) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2570663:C:CGTGGTCCGCCT,KCNQ1,VCV001709048,1709048,NM_000218.3(KCNQ1):c.514_524dup (p.Gly179fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1709048,1709048,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.514_524dup (p.gly179fs) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2662026:G:T,KCNQ1,VCV001708065,1708065,NM_000218.3(KCNQ1):c.1459G>T (p.Glu487Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1708065,1708065,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1459g>t (p.glu487ter) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445485:G:T,KCNQ1,VCV001522663,1522663,NM_000218.3(KCNQ1):c.386+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1522663,1522663,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.386+1g>t | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2661959:A:G,KCNQ1,VCV001500718,1500718,NM_000218.3(KCNQ1):c.1394-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1500718,1500718,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|cardiovascular phenotype | nm_000218.3(kcnq1):c.1394-2a>g | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2585309:T:A,KCNQ1,VCV001500707,1500707,NM_000218.3(KCNQ1):c.1128+2T>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1500707,1500707,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|cardiovascular phenotype | nm_000218.3(kcnq1):c.1128+2t>a | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2571324:G:A,KCNQ1,VCV001493047,1493047,NM_000218.3(KCNQ1):c.605-1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1493047,1493047,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.605-1g>a | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583531:T:C,KCNQ1,VCV001488375,1488375,NM_000218.3(KCNQ1):c.1018T>C (p.Phe340Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1488375,1488375,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1018t>c (p.phe340leu) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445400:T:A,KCNQ1,VCV001457098,1457098,NM_000218.3(KCNQ1):c.302T>A (p.Leu101Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1457098,1457098,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.302t>a (p.leu101ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2587588:G:GC,KCNQ1,VCV001454915,1454915,NM_000218.3(KCNQ1):c.1148dup (p.Ala384fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1454915,1454915,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1148dup (p.ala384fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572899:C:CT,KCNQ1,VCV001454509,1454509,NM_000218.3(KCNQ1):c.837dup (p.Val280fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1454509,1454509,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.837dup (p.val280fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445457:GGAAATGCTTC:G,KCNQ1,VCV001454382,1454382,NM_000218.3(KCNQ1):c.361_370del (p.Lys121fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1454382,1454382,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome||cardiovascular phenotype | nm_000218.3(kcnq1):c.361_370del (p.lys121fs) | lqts | long qt syndrome||cardiovascular phenotype | long qt syndrome||cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572099:T:TCCACC,KCNQ1,VCV001452627,1452627,NM_000218.3(KCNQ1):c.771_775dup (p.Arg259fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1452627,1452627,"Long QT syndrome|Short QT syndrome type 2;Long QT syndrome 1;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1","Long QT syndrome|Short QT syndrome type 2;Long QT syndrome 1;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1","Long QT syndrome|Short QT syndrome type 2;Long QT syndrome 1;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1",variation_id,disease_model_collision,LQTS|SQTS|arrhythmia,True,True,False,1.584962500721156,0.0,"long qt syndrome|short qt syndrome type 2;long qt syndrome 1;atrial fibrillation, familial, 3;jervell and lange-nielsen syndrome 1 | nm_000218.3(kcnq1):c.771_775dup (p.arg259fs) | lqts|sqts|arrhythmia | long qt syndrome|short qt syndrome type 2;long qt syndrome 1;atrial fibrillation, familial, 3;jervell and lange-nielsen syndrome 1 | long qt syndrome|short qt syndrome type 2;long qt syndrome 1;atrial fibrillation, familial, 3;jervell and lange-nielsen syndrome 1 | variation_id | true | 1.584962500721156",False,False,False,False,True,False,False,True,False,True +11:2572975:T:TGGTG,KCNQ1,VCV001451451,1451451,NM_000218.3(KCNQ1):c.913_916dup (p.Gly306fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1451451,1451451,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.913_916dup (p.gly306fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583486:G:T,KCNQ1,VCV001449449,1449449,NM_000218.3(KCNQ1):c.973G>T (p.Gly325Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1449449,1449449,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.973g>t (p.gly325trp) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2587647:CCACACTCTGCTGT:C,KCNQ1,VCV001445000,1445000,NM_000218.3(KCNQ1):c.1210_1222del (p.Thr404fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1445000,1445000,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1210_1222del (p.thr404fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583456:T:A,KCNQ1,VCV001439097,1439097,NM_000218.3(KCNQ1):c.943T>A (p.Tyr315Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1439097,1439097,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.943t>a (p.tyr315asn) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2571394:C:G,KCNQ1,VCV001438413,1438413,NM_000218.3(KCNQ1):c.674C>G (p.Ser225Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1438413,1438413,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.674c>g (p.ser225trp) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572096:TCATC:T,KCNQ1,VCV001437397,1437397,NM_000218.3(KCNQ1):c.770_773del (p.Ile257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1437397,1437397,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.770_773del (p.ile257fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2588814:GC:G,KCNQ1,VCV001426804,1426804,NM_000218.3(KCNQ1):c.1354del (p.Arg452fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1426804,1426804,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,long qt syndrome|cardiac arrhythmia | nm_000218.3(kcnq1):c.1354del (p.arg452fs) | lqts|arrhythmia | long qt syndrome|cardiac arrhythmia | long qt syndrome|cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +11:2583446:C:CACCATCGG,KCNQ1,VCV001416082,1416082,NM_000218.3(KCNQ1):c.934_941dup (p.Tyr315fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1416082,1416082,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.934_941dup (p.tyr315fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572029:C:T,KCNQ1,VCV001414164,1414164,NM_000218.3(KCNQ1):c.700C>T (p.Gln234Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1414164,1414164,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,long qt syndrome|cardiac arrhythmia | nm_000218.3(kcnq1):c.700c>t (p.gln234ter) | lqts|arrhythmia | long qt syndrome|cardiac arrhythmia | long qt syndrome|cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +11:2583472:C:T,KCNQ1,VCV001411474,1411474,NM_000218.3(KCNQ1):c.959C>T (p.Pro320Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1411474,1411474,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.959c>t (p.pro320leu) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572987:G:A,KCNQ1,VCV001384067,1384067,NM_000218.3(KCNQ1):c.921+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1384067,1384067,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|long qt syndrome 1 | nm_000218.3(kcnq1):c.921+1g>a | lqts | long qt syndrome|long qt syndrome 1 | long qt syndrome|long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2528020:T:C,KCNQ1,VCV001350731,1350731,NM_000218.3(KCNQ1):c.477+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1350731,1350731,Long QT syndrome|Familial prostate cancer,Long QT syndrome|Familial prostate cancer,Long QT syndrome|Familial prostate cancer,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|familial prostate cancer | nm_000218.3(kcnq1):c.477+2t>c | lqts | long qt syndrome|familial prostate cancer | long qt syndrome|familial prostate cancer | variation_id | false | -0.0,False,False,False,False,True,False,False,True,False,True +11:2570625:CAGG:C,KCNQ1,VCV001343361,1343361,NM_000218.2(KCNQ1):c.478_480del,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1343361,1343361,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.2(kcnq1):c.478_480del | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2588712:G:C,KCNQ1,VCV001342782,1342782,NM_000218.3(KCNQ1):c.1252-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,1342782,1342782,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1252-1g>c | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2571323:A:G,KCNQ1,VCV001342708,1342708,NM_000218.3(KCNQ1):c.605-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1342708,1342708,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|long qt syndrome 1|cardiovascular phenotype | nm_000218.3(kcnq1):c.605-2a>g | lqts | long qt syndrome|long qt syndrome 1|cardiovascular phenotype | long qt syndrome|long qt syndrome 1|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2768921:T:A,KCNQ1,VCV001331817,1331817,NM_000218.3(KCNQ1):c.1590+2T>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1331817,1331817,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,unanchored_assertion_state,arrhythmia,False,True,False,-0.0,0.0,cardiac arrhythmia | nm_000218.3(kcnq1):c.1590+2t>a | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2572976:G:C,KCNQ1,VCV001212402,1212402,NM_000218.3(KCNQ1):c.911G>C (p.Trp304Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1212402,1212402,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000218.3(kcnq1):c.911g>c (p.trp304ser) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2585276:G:T,KCNQ1,VCV001185948,1185948,NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1185948,1185948,Long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia,Long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia,Long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,long qt syndrome|cardiovascular phenotype|cardiac arrhythmia | nm_000218.3(kcnq1):c.1097g>t (p.arg366leu) | lqts|arrhythmia | long qt syndrome|cardiovascular phenotype|cardiac arrhythmia | long qt syndrome|cardiovascular phenotype|cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +11:2587690:G:GT,KCNQ1,VCV001179766,1179766,NM_000218.3(KCNQ1):c.1250dup (p.Val418fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1179766,1179766,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1|cardiovascular phenotype | nm_000218.3(kcnq1):c.1250dup (p.val418fs) | lqts | long qt syndrome 1|cardiovascular phenotype | long qt syndrome 1|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2778034:CAA:C,KCNQ1,VCV001171410,1171410,NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1171410,1171410,Cardiac arrhythmia|Cardiovascular phenotype|Long QT syndrome,Cardiac arrhythmia|Cardiovascular phenotype|Long QT syndrome,Cardiac arrhythmia|Cardiovascular phenotype|Long QT syndrome,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,cardiac arrhythmia|cardiovascular phenotype|long qt syndrome | nm_000218.3(kcnq1):c.1792_1793del (p.lys598fs) | lqts|arrhythmia | cardiac arrhythmia|cardiovascular phenotype|long qt syndrome | cardiac arrhythmia|cardiovascular phenotype|long qt syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +11:2587622:TC:T,KCNQ1,VCV001076090,1076090,NM_000218.3(KCNQ1):c.1182del (p.Tyr395fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1076090,1076090,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1182del (p.tyr395fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445482:CG:C,KCNQ1,VCV001075209,1075209,NM_000218.3(KCNQ1):c.385del (p.Val129fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1075209,1075209,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.385del (p.val129fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445457:G:A,KCNQ1,VCV001074347,1074347,NM_000218.3(KCNQ1):c.359G>A (p.Trp120Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1074347,1074347,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.359g>a (p.trp120ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445251:CGCGCCCATCGCGCCCG:C,KCNQ1,VCV001072801,1072801,NM_000218.3(KCNQ1):c.160_175del (p.Ile54fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1072801,1072801,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.160_175del (p.ile54fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2777030:C:G,KCNQ1,VCV001069232,1069232,NM_000218.3(KCNQ1):c.1730C>G (p.Ser577Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1069232,1069232,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1730c>g (p.ser577ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2588711:A:C,KCNQ1,VCV001067022,1067022,NM_000218.3(KCNQ1):c.1252-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1067022,1067022,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1252-2a>c | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2661960:G:C,KCNQ1,VCV001066272,1066272,NM_000218.3(KCNQ1):c.1394-1G>C,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1066272,1066272,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1394-1g>c | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583463:A:C,KCNQ1,VCV001056776,1056776,NM_000218.3(KCNQ1):c.950A>C (p.Asp317Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1056776,1056776,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.950a>c (p.asp317ala) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2585291:C:A,KCNQ1,VCV001038475,1038475,NM_000218.3(KCNQ1):c.1112C>A (p.Ala371Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1038475,1038475,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1112c>a (p.ala371glu) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2778003:C:G,KCNQ1,VCV001037124,1037124,NM_000218.3(KCNQ1):c.1760C>G (p.Thr587Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1037124,1037124,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1760c>g (p.thr587arg) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2768888:T:C,KCNQ1,VCV001018501,1018501,NM_000218.3(KCNQ1):c.1559T>C (p.Met520Thr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1018501,1018501,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1559t>c (p.met520thr) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572081:T:A,KCNQ1,VCV001004846,1004846,NM_000218.3(KCNQ1):c.752T>A (p.Leu251Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1004846,1004846,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.752t>a (p.leu251gln) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2587654:CTG:C,KCNQ1,VCV000992394,992394,NM_000218.3(KCNQ1):c.1214_1215del (p.Leu405fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,992394,992394,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1|cardiovascular phenotype | nm_000218.3(kcnq1):c.1214_1215del (p.leu405fs) | lqts | long qt syndrome 1|cardiovascular phenotype | long qt syndrome 1|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2776977:T:C,KCNQ1,VCV000983505,983505,NM_000218.3(KCNQ1):c.1686-9T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,983505,983505,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,jervell and lange-nielsen syndrome 1 | nm_000218.3(kcnq1):c.1686-9t>c | lqts | jervell and lange-nielsen syndrome 1 | jervell and lange-nielsen syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2588738:AC:A,KCNQ1,VCV000983047,983047,NM_000218.3(KCNQ1):c.1278del (p.Asp426fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,983047,983047,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1278del (p.asp426fs) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2570701:AC:A,KCNQ1,VCV000983022,983022,NM_000218.3(KCNQ1):c.552del (p.Lys183_Tyr184insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,983022,983022,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.552del (p.lys183_tyr184inster) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2699443:GCACTGAGGAGCCGCCGGGAGAGTGCCGCGCTGAGGAGCCCCCGGGGAGAGTGCCGCGCTGAGGAGCCCCCAGGAGAGTGCCGCGCTGAGGAGGCCCAGGGAGGACCGCGCGGAGGAGAACCATGCTGAGGAGCCCCCGGGGAGAACAGAACCGCGGCGAGAGGCCCCCGGAGAGAACCGCGCCGAAGAACCCCCGGGGACAACCGCGCCGAAGAACCCCCGGGGAGAACCGCGCCGAAAAGCCCCGGGTGCCCCGAGGAGAACGGCGCCGAGGAGTCCCCGGGGAGAACTGCGCCGAGGAGCCCCCAGAAGAGCGCCGCGCTGAGGAGCCCCGAGGAGAACCGCGCCGAGGGGCGCGCCGGGGAGAACCACGATGACTGACGCACCGAGGAGGACCGCGCTGAGGGGCGCACCGGGAGAATCGTGCTGAGGAGCCCCGGGGAGGACCACGCTGAGAGGCACCCCGGCAGAATCGCGCTGAGGGGCGCCCTGGCAGGATCTTGCTGAGGAGCTCCCTGGAGGTCCGTGCTGAGGCGACGCGGCGACCGTTCTGCCTGGAGACTGCGGCAGCGCTCCGACTGCCCCCGCCGCTGCCGACGTGGCGACCGCCCCCCACCTGCTGATTGGGCGGCAGCAGGGGAAGGCTTGCGGCGGGCTGCTGCACGGATTGGCTGGGTGCGGAAAGTGATGTGCCGTGTCCTGTCATTGGCCGAAAGAGTCTCGTTTTGATGCCACCCGGGCTCAGATTGGCCCAGCGGGTCCAGCGCCGCATGAGGCACTGGCTGGGTGTGAGGTGGCGCGAGCCGCCGCCCTCCCTGCCCCCACCCGTCGTCCCTGAGCACCACCGGGGGCCGGGGCCAGCGCCAGCCTCAGCGTTGGCATCGCCGGGGTGAGCTGGAGACACGGGCCAGTTCTCTGCGTGATGTGTTCACCACCCCGGGGTGACCGCGTGAGGACAGCGGCCGCACCCCGACACTGCTGTGGGCCCTCGGTGTGGAGGCCTGTGGGCGTCCAGGCCACGCCCGAGACCAGCCCCTCCGCCGGCGCCGCTGCAGCGACCCTCGAACCCGGGCAAGGTCTCCACCGCCGTGGCACCGGGTGCGGGAGGCGTTTTCCCCCCTCCCAGCGGGTCCATGCAGGGGATCGGGATGTTCTGAAGCCCCCACTGCTGTGCCTGGAACACCCGTGTCTGCCGCTCACCCCTGAGGACTTGGGACCTCAGGGGGTGAGTGGCAGGGGTGGCCGGGACATGCCAGGCCACCCACCTGGCAAAGGGCAGCGCCGAGGGCGCCCCGCGCCTGCCAGCGCCCGGCCGGGCCCGCCCTGCCCACCTCCCATCCCCCATCCGGGCGTGACACTTGACCGCGTCTGCCGGCCCCTCC:G,KCNQ1,VCV000977320,977320,NM_000218.3(KCNQ1):c.1514+37364_1514+38744del,Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,977320,977320,Silver-Russell syndrome 1,Silver-Russell syndrome 1,Silver-Russell syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,silver-russell syndrome 1 | nm_000218.3(kcnq1):c.1514+37364_1514+38744del | lqts | silver-russell syndrome 1 | silver-russell syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2583544:CGGTAGGTGCCCCGTGGGTGCGTTTTCCCTGGCTCCTTGGACAGCTGGGGTCCTGGGGTGGCTGCACGCCCCTCCCTGTGAGCAGACCCACTTACGTTCAGAACCAAGAGGGTGCTTCCCTTCTAGAAGGTGCTATACTCCAGAGCCCCACCTGCCCTCCCTGGGGCCCTGGATGCAGACTTCCCGTTTGCAGTCCCCACTGGGGTCCTTGCAGGCAGTGTGGGAGGCAGCCTGGAGTGGCTGTGCATGGGCGCAGTGTGGGGCAGGCCTGCTCACTCAGCCCTGGGTGGGTGGGCAATGCTGCTACCACGCCCCATGGAGGCAGAATCTTGTGCCTGGAGAGGGCACTTCCACGCTGTGGCTGGGGGGGTTTTGTTCCATGTCCTTTCCAGAAACCACAGATTGTAAGGTGATGTGTCTAGTTCACAATGCCTGTATGTGGGTGTGTGTGTGTGTGTTATGTGCGTATGTGCATAATATGTGTTTGTGTTGTGTGTGTATAATTTTATGTTACCTGTATACTATGGGTATGTGTATATGTATCACATGGGTGTGTATGTACTGTATGTGTGCGTGCATACTGTGTATACATATTGTATGTGCATATGTTGTATTTAGTATGTGTGCTGTGTTGTGTGCACATGTATGCATTATACATGTATATCAGTATGTTTGCATATGTGTATTTATGTATCTGTGTCACAGGTATGTATCCTATACATCTATGTGCGTATATGTGTGTGCACATGACATGTAGACATGTGTTAGTATGTGCTTGTGTTAGTGTTTGTGTGTTAGTGTGGGTTAGTGTATGTTTTAGTGTATGTTAGTGTGTTTGTGTGTTAGTGTGTGGGTTTGTGTTTGTGTTTCTGTGTTAGTGTGTGTGTTAGTGTGCGTTAGTTTGTGTTTGTGTGTGTATGTTAGTGTATGTTAGTGTTAGTGTGTGTTAGTATGTGGGTTAGTGTGTGTGTTTGTGTGTTAGTGTGTGTGTTAGTATGTGTTTGTGTTAGTGTGTATTTGTGTGTGTTAGTGTTTGTGTGTGTTTGTGGGTTAGTGTGTGTTAGTGTGGGTTACTGTGTGTTAGTGTTTGTGTGTTAGTGTGTTTTTGTGTGTGTTAGTGTGTGGGTTAGTGTTTGTGTGTGTGTCAGTGTGTGTGTGTTAGTGTGCATATCTATTGTGTGTGTGTGTGCATCACACATGCACGTGCACCACGTGATCTCCTCTGTAGACACGGAGTTCCCTAGCTTCAGGGTGGGTCCTTTGCATCCCATCAACCGTCCTTGGGCGAGGCAGCAGCAGGGTCCTCCTCAGCTGAGGACTGCCTTCTCACTTGCGACCCCAATCCCAGTGCCCAGTATGACCCCTTCCTGGGCACATACAGATGGACCAGCCCACCTGGCCCCCAGAATGGTCCCTGGGAATGGGTTAGAGCGGCTGCAGCCCTGCCCCATGGGACTGGGCCCCTTGCTGGATAAGACCTGGGGTATAAGTTCTGCCCCCCATGCTGGCCCAGGACAGGCAGGCTGGGCCCGAGGTGGGACTTGGGGGGGCTTCCAGCACTGACCATACCTGGCCTTCCCACAACGGTGACCGGTAACCACGTCCTGAGGCTGCACCCAGCTGGCAGTGGCCTGTGTGGACGGGAGCCTCCTGTCCATTCCTTCCCAGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCTCACTCATTCAGGTGCGGTGCCTGCAAGGCCCTGGTCACTGTCATTTTGGTCACTGTTATTGTTGCATCCAGCCCTCACGGCCACCTGTCAGAACCATCATTGGCCCCTGCATCAGCTTGGCTGGCCTGTGGGGCATACTCTGCTTGTGGAAGCCTTGGCTGCTGTGGTGATGGGGTGAGCACGGGGCATTGGAGCCTGTCTTCCTCCAAAGCTGCTCCCATCAAGGGCCATGCCCTGTGGGCTGGAGAGGAGGCACGGCCGTGGCCATGCCAGGAGTGGACGTGGTTGGCTCTGAGGCTCCCTTGTGCTCCCATTCTCCCTCCCACTGCACAACAACCTGAGGGCTGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGGGCTCTGGCTCTGTCACTCCAGGCTCTCCAGGACCCACCAGAGAATGGGACTGCTCTGTTAACGTAAGCAAGGACTTGGCACAGGAGTCACTTGAGAATTGCGTCCCTGTGGGTCTCTCTTGTTGGCCACTGCAGGGCCAGGGCTGCCCTGAGGAACAGCCGCTGAGGTGCCCAGAGGGTGGGCGTTGCCGGGTTGAATGACAAGTGCCCACTGGGGATAGGGCCTCCGCCCAGTGCAGTGGCTGGGAGCACAGTGTCAGTTCCTCTGGGCACACTGGGCCTGATGTCCCCCAGGAAGGCCCAGGACCTGGGCAGCCCCCGCTGGCTGGCGTCCCCCCTGCAGTCCTCGTGAGCTCGCTGCCCCAGGCAAGGCCCAGGCTGTCAGGGGCCAGTCGCAGTCCTCCTGCACTCCTGGCTCAGCCATCGGGGGGGCTGTGTGCTCCCACCCTTAGCCTGGTTTTATGGCTTCACAGTTTCTCCTTCCTGGGAGACCATAAATCAGGCCCGTAAACCCGCCTTGGTCCCAGCATGAGCATGCTGGCCGCCCACGCCTGGCAGGGGACCACATTGGATTCCTGGTCCCACTCCCTGGGAACCACAGGTCCTTTGAAAGGGGTTCCCTCGGAAGCTGCACACACTGTGGGAGGACTGGAGTAGGGGCCCCAGGTGGCAGGTGTGCACAGGAGCAGGGCAGGGGTCATGGGGTTTGCCAGGGTTGGGGGACCACGTGGAGTGCTCAGCCTGTGTGTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCA:C,KCNQ1,VCV000977170,977170,NM_000218.3(KCNQ1):c.1032+1_1129-1del,Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,977170,977170,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1032+1_1129-1del | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2587646:GC:G,KCNQ1,VCV000966649,966649,NM_000218.3(KCNQ1):c.1207del (p.His403fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,966649,966649,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1207del (p.his403fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583477:A:C,KCNQ1,VCV000960695,960695,NM_000218.3(KCNQ1):c.964A>C (p.Thr322Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,960695,960695,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.964a>c (p.thr322pro) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2777033:G:A,KCNQ1,VCV000956049,956049,NM_000218.3(KCNQ1):c.1732+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,956049,956049,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1732+1g>a | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583547:T:C,KCNQ1,VCV000939724,939724,NM_000218.3(KCNQ1):c.1032+2T>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,939724,939724,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|long qt syndrome 1 | nm_000218.3(kcnq1):c.1032+2t>c | lqts | long qt syndrome|long qt syndrome 1 | long qt syndrome|long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2588718:GAAAA:G,KCNQ1,VCV000930315,930315,NM_000218.3(KCNQ1):c.1262_1265del (p.Lys421fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,930315,930315,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1262_1265del (p.lys421fs) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2662006:T:TGAGAACCAACAGCTTCGCC,KCNQ1,VCV000926196,926196,NM_000218.3(KCNQ1):c.1443_1461dup (p.Asp488fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,926196,926196,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,unanchored_assertion_state,arrhythmia,False,True,False,-0.0,0.0,cardiac arrhythmia | nm_000218.3(kcnq1):c.1443_1461dup (p.asp488fs) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2588790:CA:C,KCNQ1,VCV000925351,925351,NM_000218.3(KCNQ1):c.1330del (p.Thr444fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,925351,925351,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,unanchored_assertion_state,arrhythmia,False,True,False,-0.0,0.0,cardiac arrhythmia | nm_000218.3(kcnq1):c.1330del (p.thr444fs) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2588815:CG:C,KCNQ1,VCV000922607,922607,NM_000218.3(KCNQ1):c.1356del (p.Leu453fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,922607,922607,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,unanchored_assertion_state,arrhythmia,False,True,False,-0.0,0.0,cardiac arrhythmia|cardiovascular phenotype | nm_000218.3(kcnq1):c.1356del (p.leu453fs) | arrhythmia | cardiac arrhythmia|cardiovascular phenotype | cardiac arrhythmia|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2585222:GCTCGGGGTTTG:CA,KCNQ1,VCV000919956,919956,NM_000218.3(KCNQ1):c.1043_1054delinsCA (p.Gly348fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,919956,919956,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,unanchored_assertion_state,arrhythmia,False,True,False,-0.0,0.0,cardiac arrhythmia | nm_000218.3(kcnq1):c.1043_1054delinsca (p.gly348fs) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2572105:G:C,KCNQ1,VCV000869436,869436,NM_000218.3(KCNQ1):c.776G>C (p.Arg259Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,869436,869436,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.776g>c (p.arg259pro) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2585288:C:A,KCNQ1,VCV000869435,869435,NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,869435,869435,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1109c>a (p.ala370glu) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2570626:AG:A,KCNQ1,VCV000869434,869434,NM_000218.2(KCNQ1):c.478_478del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,869434,869434,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.2(kcnq1):c.478_478del | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2768869:ATTAAGGTCAT:A,KCNQ1,VCV000869433,869433,NM_000218.3(KCNQ1):c.1542_1551del (p.Lys515fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,869433,869433,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1542_1551del (p.lys515fs) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572874:TCCTGGG:T,KCNQ1,VCV000861314,861314,NM_000218.3(KCNQ1):c.813_818del (p.Gly272_Leu273del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,861314,861314,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.813_818del (p.gly272_leu273del) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572072:G:A,KCNQ1,VCV000855976,855976,NM_000218.3(KCNQ1):c.743G>A (p.Trp248Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,855976,855976,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.743g>a (p.trp248ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2587671:CA:C,KCNQ1,VCV000844409,844409,NM_000218.3(KCNQ1):c.1233del (p.Lys411fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,844409,844409,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1233del (p.lys411fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572107:C:T,KCNQ1,VCV000842276,842276,NM_000218.3(KCNQ1):c.778C>T (p.Gln260Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,842276,842276,Long QT syndrome|KCNQ1-related disorder,Long QT syndrome|KCNQ1-related disorder,Long QT syndrome|KCNQ1-related disorder,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|kcnq1-related disorder | nm_000218.3(kcnq1):c.778c>t (p.gln260ter) | lqts | long qt syndrome|kcnq1-related disorder | long qt syndrome|kcnq1-related disorder | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2570712:TGG:T,KCNQ1,VCV000817323,817323,NM_000218.3(KCNQ1):c.566_567del (p.Gly189fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,817323,817323,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.566_567del (p.gly189fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2570662:AC:A,KCNQ1,VCV000817016,817016,NM_000218.3(KCNQ1):c.513del (p.Glu170_Tyr171insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,817016,817016,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000218.3(kcnq1):c.513del (p.glu170_tyr171inster) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2587693:G:A,KCNQ1,VCV000812675,812675,NM_000218.3(KCNQ1):c.1251+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,812675,812675,Long QT syndrome 1|Long QT syndrome,Long QT syndrome 1|Long QT syndrome,Long QT syndrome 1|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1|long qt syndrome | nm_000218.3(kcnq1):c.1251+1g>a | lqts | long qt syndrome 1|long qt syndrome | long qt syndrome 1|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445471:T:A,KCNQ1,VCV000684802,684802,NM_000218.3(KCNQ1):c.373T>A (p.Tyr125Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,684802,684802,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.373t>a (p.tyr125asn) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2528008:T:C,KCNQ1,VCV000684787,684787,NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,684787,684787,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.467t>c (p.leu156pro) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2776056:T:G,KCNQ1,VCV000667007,667007,NM_000218.3(KCNQ1):c.1685+2T>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,667007,667007,"Congenital long QT syndrome|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1","Congenital long QT syndrome|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1","Congenital long QT syndrome|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1",variation_id,disease_model_collision,LQTS|SQTS|arrhythmia,True,True,False,1.584962500721156,0.0,"congenital long qt syndrome|short qt syndrome type 2;atrial fibrillation, familial, 3;long qt syndrome 1;jervell and lange-nielsen syndrome 1 | nm_000218.3(kcnq1):c.1685+2t>g | lqts|sqts|arrhythmia | congenital long qt syndrome|short qt syndrome type 2;atrial fibrillation, familial, 3;long qt syndrome 1;jervell and lange-nielsen syndrome 1 | congenital long qt syndrome|short qt syndrome type 2;atrial fibrillation, familial, 3;long qt syndrome 1;jervell and lange-nielsen syndrome 1 | variation_id | true | 1.584962500721156",False,False,False,False,True,False,False,True,False,True +11:2572055:C:A,KCNQ1,VCV000665471,665471,NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,665471,665471,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome||cardiovascular phenotype | nm_000218.3(kcnq1):c.726c>a (p.asp242glu) | lqts | long qt syndrome||cardiovascular phenotype | long qt syndrome||cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583486:G:C,KCNQ1,VCV000660595,660595,NM_000218.3(KCNQ1):c.973G>C (p.Gly325Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,660595,660595,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.973g>c (p.gly325arg) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2571404:G:A,KCNQ1,VCV000651458,651458,NM_000218.3(KCNQ1):c.683+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,651458,651458,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|congenital long qt syndrome | nm_000218.3(kcnq1):c.683+1g>a | lqts | long qt syndrome|congenital long qt syndrome | long qt syndrome|congenital long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583550:G:T,KCNQ1,VCV000641597,641597,NM_000218.3(KCNQ1):c.1032+5G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,641597,641597,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1032+5g>t | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2585305:C:T,KCNQ1,VCV000620198,620198,NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,620198,620198,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|long qt syndrome 1|cardiovascular phenotype | nm_000218.3(kcnq1):c.1126c>t (p.gln376ter) | lqts | long qt syndrome|long qt syndrome 1|cardiovascular phenotype | long qt syndrome|long qt syndrome 1|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572846:G:T,KCNQ1,VCV000620103,620103,NM_000218.3(KCNQ1):c.781G>T (p.Glu261Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,620103,620103,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000218.3(kcnq1):c.781g>t (p.glu261ter) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2768851:GA:G,KCNQ1,VCV000587644,587644,NM_000218.3(KCNQ1):c.1524del (p.Glu508fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,587644,587644,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1524del (p.glu508fs) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583433:A:G,KCNQ1,VCV000582668,582668,NM_000218.3(KCNQ1):c.922-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,582668,582668,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.922-2a>g | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583442:TCAC:T,KCNQ1,VCV000581345,581345,NM_000218.3(KCNQ1):c.932CCA[1] (p.Thr312del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,581345,581345,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.932cca[1] (p.thr312del) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2587579:A:T,KCNQ1,VCV000581004,581004,NM_000218.3(KCNQ1):c.1138A>T (p.Arg380Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,581004,581004,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1138a>t (p.arg380trp) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2768841:CAG:C,KCNQ1,VCV000576205,576205,NM_000218.3(KCNQ1):c.1515-2_1515-1del,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,576205,576205,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1515-2_1515-1del | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2571324:G:C,KCNQ1,VCV000573523,573523,NM_000218.3(KCNQ1):c.605-1G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,573523,573523,"Long QT syndrome|Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Long QT syndrome 1","Long QT syndrome|Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Long QT syndrome 1","Long QT syndrome|Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Long QT syndrome 1",variation_id,disease_model_collision,LQTS|SQTS|arrhythmia,True,True,False,1.584962500721156,0.0,"long qt syndrome|short qt syndrome type 2;jervell and lange-nielsen syndrome 1;atrial fibrillation, familial, 3;long qt syndrome 1 | nm_000218.3(kcnq1):c.605-1g>c | lqts|sqts|arrhythmia | long qt syndrome|short qt syndrome type 2;jervell and lange-nielsen syndrome 1;atrial fibrillation, familial, 3;long qt syndrome 1 | long qt syndrome|short qt syndrome type 2;jervell and lange-nielsen syndrome 1;atrial fibrillation, familial, 3;long qt syndrome 1 | variation_id | true | 1.584962500721156",False,False,False,False,True,False,False,True,False,True +11:2572061:GGGAGGCACCT:G,KCNQ1,VCV000570590,570590,NM_000218.3(KCNQ1):c.739_748del (p.Thr247fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,570590,570590,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.739_748del (p.thr247fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2777002:G:C,KCNQ1,VCV000570319,570319,NM_000218.3(KCNQ1):c.1702G>C (p.Gly568Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,570319,570319,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1702g>c (p.gly568arg) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583545:G:T,KCNQ1,VCV000560649,560649,NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,560649,560649,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|long qt syndrome 1 | nm_000218.3(kcnq1):c.1032g>t (p.ala344=) | lqts | long qt syndrome|long qt syndrome 1 | long qt syndrome|long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572850:T:C,KCNQ1,VCV000560359,560359,NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,560359,560359,Prolonged QT interval|Long QT syndrome 1|Long QT syndrome|Cardiovascular phenotype,Prolonged QT interval|Long QT syndrome 1|Long QT syndrome|Cardiovascular phenotype,Prolonged QT interval|Long QT syndrome 1|Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,prolonged qt interval|long qt syndrome 1|long qt syndrome|cardiovascular phenotype | nm_000218.3(kcnq1):c.785t>c (p.leu262pro) | lqts | prolonged qt interval|long qt syndrome 1|long qt syndrome|cardiovascular phenotype | prolonged qt interval|long qt syndrome 1|long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2588717:AG:A,KCNQ1,VCV000526930,526930,NM_000218.3(KCNQ1):c.1257del (p.Lys422fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526930,526930,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1257del (p.lys422fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445192:A:T,KCNQ1,VCV000523769,523769,NM_000218.3(KCNQ1):c.94A>T (p.Lys32Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,523769,523769,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.94a>t (p.lys32ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583447:A:T,KCNQ1,VCV000522585,522585,NM_000218.3(KCNQ1):c.934A>T (p.Thr312Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,522585,522585,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.934a>t (p.thr312ser) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572059:C:T,KCNQ1,VCV000519369,519369,NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519369,519369,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,cardiovascular phenotype|long qt syndrome|cardiac arrhythmia | nm_000218.3(kcnq1):c.730c>t (p.gln244ter) | lqts|arrhythmia | cardiovascular phenotype|long qt syndrome|cardiac arrhythmia | cardiovascular phenotype|long qt syndrome|cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +11:2570659:AG:A,KCNQ1,VCV000519357,519357,NM_000218.3(KCNQ1):c.510del (p.Glu170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519357,519357,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000218.3(kcnq1):c.510del (p.glu170fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2777034:TG:T,KCNQ1,VCV000517664,517664,NM_000218.3(KCNQ1):c.1732+5del,Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,517664,517664,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,jervell and lange-nielsen syndrome 1 | nm_000218.3(kcnq1):c.1732+5del | lqts | jervell and lange-nielsen syndrome 1 | jervell and lange-nielsen syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2661990:AGCAT:A,KCNQ1,VCV000496690,496690,NM_000218.3(KCNQ1):c.1426_1429del (p.Met476fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,496690,496690,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,jervell and lange-nielsen syndrome 1 | nm_000218.3(kcnq1):c.1426_1429del (p.met476fs) | lqts | jervell and lange-nielsen syndrome 1 | jervell and lange-nielsen syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2445473:C:A,KCNQ1,VCV000489011,489011,NM_000218.3(KCNQ1):c.375C>A (p.Tyr125Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,489011,489011,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000218.3(kcnq1):c.375c>a (p.tyr125ter) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2572899:C:G,KCNQ1,VCV000456869,456869,NM_000218.3(KCNQ1):c.834C>G (p.Tyr278Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456869,456869,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.834c>g (p.tyr278ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2583456:T:C,KCNQ1,VCV000449302,449302,NM_000218.3(KCNQ1):c.943T>C (p.Tyr315His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,449302,449302,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.943t>c (p.tyr315his) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2571373:A:AG,KCNQ1,VCV000449283,449283,NM_000218.3(KCNQ1):c.657dup (p.Gln220fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,449283,449283,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.657dup (p.gln220fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2775977:C:CGATGT,KCNQ1,VCV000448975,448975,NM_000218.3(KCNQ1):c.1610_1614dup (p.Arg539fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,448975,448975,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1610_1614dup (p.arg539fs) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572060:AGG:A,KCNQ1,VCV000438610,438610,NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,438610,438610,Jervell and Lange-Nielsen syndrome 1|Abnormality of the cardiovascular system,Jervell and Lange-Nielsen syndrome 1|Abnormality of the cardiovascular system,Jervell and Lange-Nielsen syndrome 1|Abnormality of the cardiovascular system,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,jervell and lange-nielsen syndrome 1|abnormality of the cardiovascular system | nm_000218.3(kcnq1):c.733_734del (p.gly245fs) | lqts | jervell and lange-nielsen syndrome 1|abnormality of the cardiovascular system | jervell and lange-nielsen syndrome 1|abnormality of the cardiovascular system | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2570706:G:T,KCNQ1,VCV000432149,432149,NM_000218.3(KCNQ1):c.556G>T (p.Gly186Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,432149,432149,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000218.3(kcnq1):c.556g>t (p.gly186cys) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2588785:CA:C,KCNQ1,VCV000431370,431370,NM_000218.3(KCNQ1):c.1325del (p.His442fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,431370,431370,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 1 | nm_000218.3(kcnq1):c.1325del (p.his442fs) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2768860:CG:C,KCNQ1,VCV000430941,430941,NM_000218.3(KCNQ1):c.1534del (p.Ala512fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,430941,430941,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,jervell and lange-nielsen syndrome 1 | nm_000218.3(kcnq1):c.1534del (p.ala512fs) | lqts | jervell and lange-nielsen syndrome 1 | jervell and lange-nielsen syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2528004:ACT:A,KCNQ1,VCV000421737,421737,NM_000218.3(KCNQ1):c.468_469del (p.Phe157fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,421737,421737,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.468_469del (p.phe157fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2445231:C:CCGGCGGG,KCNQ1,VCV000420658,420658,NM_000218.3(KCNQ1):c.139_145dup (p.Ala49fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,420658,420658,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000218.3(kcnq1):c.139_145dup (p.ala49fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2571340:TG:T,KCNQ1,VCV000420529,420529,NM_000218.3(KCNQ1):c.622del (p.Ala208fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420529,420529,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000218.3(kcnq1):c.622del (p.ala208fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +11:2445478:T:TCG,KCNQ1,VCV000419579,419579,NM_000218.3(KCNQ1):c.382_383dup (p.Val129fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,419579,419579,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|cardiovascular phenotype | nm_000218.3(kcnq1):c.382_383dup (p.val129fs) | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2587616:G:A,KCNQ1,VCV000405268,405268,NM_000218.3(KCNQ1):c.1175G>A (p.Trp392Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405268,405268,Long QT syndrome||Jervell and Lange-Nielsen syndrome,Long QT syndrome||Jervell and Lange-Nielsen syndrome,Long QT syndrome||Jervell and Lange-Nielsen syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome||jervell and lange-nielsen syndrome | nm_000218.3(kcnq1):c.1175g>a (p.trp392ter) | lqts | long qt syndrome||jervell and lange-nielsen syndrome | long qt syndrome||jervell and lange-nielsen syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2778025:AG:A,KCNQ1,VCV000405264,405264,NM_000218.3(KCNQ1):c.1783del (p.Arg594_Val595insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405264,405264,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1783del (p.arg594_val595inster) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572912:G:C,KCNQ1,VCV000405263,405263,NM_000218.3(KCNQ1):c.847G>C (p.Ala283Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405263,405263,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.847g>c (p.ala283pro) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572068:ACCTGGAGGCT:A,KCNQ1,VCV000405262,405262,NM_000218.3(KCNQ1):c.745_754del (p.Arg249fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,405262,405262,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|long qt syndrome 1|cardiovascular phenotype | nm_000218.3(kcnq1):c.745_754del (p.arg249fs) | lqts | long qt syndrome|long qt syndrome 1|cardiovascular phenotype | long qt syndrome|long qt syndrome 1|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2585225:C:A,KCNQ1,VCV000405261,405261,NM_000218.3(KCNQ1):c.1046C>A (p.Ser349Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,405261,405261,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.1046c>a (p.ser349ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572050:G:T,KCNQ1,VCV000405255,405255,NM_000218.3(KCNQ1):c.721G>T (p.Val241Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,405255,405255,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.721g>t (p.val241phe) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572883:T:C,KCNQ1,VCV000405254,405254,NM_000218.3(KCNQ1):c.818T>C (p.Leu273Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405254,405254,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.818t>c (p.leu273pro) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572846:GA:TT,KCNQ1,VCV000405253,405253,NM_000218.3(KCNQ1):c.781_782delinsTT (p.Glu261Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405253,405253,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000218.3(kcnq1):c.781_782delinstt (p.glu261leu) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +11:2572908:C:A,KCNQ1,VCV000379504,379504,NM_000218.3(KCNQ1):c.843C>A (p.Tyr281Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,379504,379504,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,long qt syndrome|cardiac arrhythmia | nm_000218.3(kcnq1):c.843c>a (p.tyr281ter) | lqts|arrhythmia | long qt syndrome|cardiac arrhythmia | long qt syndrome|cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +11:2583434:G:A,KCNQ1,VCV000372568,372568,NM_000218.3(KCNQ1):c.922-1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,372568,372568,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000218.3(kcnq1):c.922-1g>a | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150958401:CCGGGGCGCCCGCGCCGCCCGCG:C,KCNH2,VCV004804554,4804554,NM_000238.4(KCNH2):c.552_573del (p.Ala185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4804554,4804554,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.552_573del (p.ala185fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150957304:TCA:T,KCNH2,VCV004763986,4763986,NM_000238.4(KCNH2):c.1113_1114del (p.Lys373fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4763986,4763986,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1113_1114del (p.lys373fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974776:TG:T,KCNH2,VCV004758983,4758983,NM_000238.4(KCNH2):c.241del (p.Gln81fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4758983,4758983,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,unanchored_assertion_state,arrhythmia,False,True,False,-0.0,0.0,cardiac arrhythmia | nm_000238.4(kcnh2):c.241del (p.gln81fs) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150952789:CA:C,KCNH2,VCV004758579,4758579,NM_000238.4(KCNH2):c.1192del (p.Trp398fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4758579,4758579,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,unanchored_assertion_state,arrhythmia,False,True,False,-0.0,0.0,cardiac arrhythmia | nm_000238.4(kcnh2):c.1192del (p.trp398fs) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947810:C:CCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCT,KCNH2,VCV004757905,4757905,NM_000238.4(KCNH2):c.2699_2760dup (p.Gly921fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4757905,4757905,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,unanchored_assertion_state,arrhythmia,False,True,False,-0.0,0.0,cardiac arrhythmia | nm_000238.4(kcnh2):c.2699_2760dup (p.gly921fs) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150974714:CT:C,KCNH2,VCV004733133,4733133,NM_000238.4(KCNH2):c.303del (p.Asp102fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4733133,4733133,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.303del (p.asp102fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948451:C:CGT,KCNH2,VCV004728357,4728357,NM_000238.4(KCNH2):c.2683_2684dup (p.Asp896fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4728357,4728357,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2683_2684dup (p.asp896fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974927:TG:T,KCNH2,VCV004727073,4727073,NM_000238.4(KCNH2):c.90del (p.Ile31fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4727073,4727073,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.90del (p.ile31fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950996:GGGGATCT:G,KCNH2,VCV004726900,4726900,NM_000238.4(KCNH2):c.2063_2069del (p.Gln688fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4726900,4726900,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2063_2069del (p.gln688fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951619:G:A,KCNH2,VCV004724072,4724072,NM_000238.4(KCNH2):c.1774C>T (p.Gln592Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4724072,4724072,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1774c>t (p.gln592ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947659:TC:T,KCNH2,VCV004722731,4722731,NM_000238.4(KCNH2):c.2911del (p.Glu971fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4722731,4722731,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2911del (p.glu971fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948935:AG:A,KCNH2,VCV004721201,4721201,NM_000238.4(KCNH2):c.2512del (p.Leu838fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4721201,4721201,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2512del (p.leu838fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958060:G:GGT,KCNH2,VCV004720344,4720344,NM_000238.4(KCNH2):c.913_914dup (p.Gly306fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4720344,4720344,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.913_914dup (p.gly306fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950985:C:CT,KCNH2,VCV004720342,4720342,NM_000238.4(KCNH2):c.2080_2081insA (p.Arg694fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4720342,4720342,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2080_2081insa (p.arg694fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948873:TG:T,KCNH2,VCV004719590,4719590,NM_000238.4(KCNH2):c.2574del (p.Thr859fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4719590,4719590,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2574del (p.thr859fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951653:GT:G,KCNH2,VCV004715748,4715748,NM_000238.4(KCNH2):c.1739del (p.Asp580fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4715748,4715748,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1739del (p.asp580fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950398:CACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCA:C,KCNH2,VCV004715444,4715444,NM_000238.4(KCNH2):c.2146-50_2167del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4715444,4715444,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2146-50_2167del | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947816:T:TC,KCNH2,VCV004714508,4714508,NM_000238.4(KCNH2):c.2754_2755insG (p.Ser919fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4714508,4714508,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2754_2755insg (p.ser919fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947516:T:C,KCNH2,VCV004710895,4710895,NM_000238.4(KCNH2):c.2966-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4710895,4710895,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2966-2a>g | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947452:G:A,KCNH2,VCV004710749,4710749,NM_000238.4(KCNH2):c.3028C>T (p.Gln1010Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4710749,4710749,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3028c>t (p.gln1010ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951022:C:A,KCNH2,VCV004709557,4709557,NM_000238.4(KCNH2):c.2044G>T (p.Glu682Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4709557,4709557,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2044g>t (p.glu682ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950393:G:A,KCNH2,VCV004709556,4709556,NM_000238.4(KCNH2):c.2173C>T (p.Gln725Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4709556,4709556,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2173c>t (p.gln725ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974868:CTCGCAGAAGCCGTCG:C,KCNH2,VCV004686179,4686179,NM_000238.4(KCNH2):c.135_149del (p.Asn45_Glu50delinsLys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4686179,4686179,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.135_149del (p.asn45_glu50delinslys) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150974766:C:CTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG,KCNH2,VCV004681926,4681926,NM_000238.4(KCNH2):c.221_251dup (p.Gln84fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4681926,4681926,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.221_251dup (p.gln84fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947386:GACCC:CCG,KCNH2,VCV004614356,4614356,NM_000238.4(KCNH2):c.3090_3094delinsCGG (p.Arg1032fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4614356,4614356,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.3090_3094delinscgg (p.arg1032fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150958125:ACGAGGCGCGGCGCACG:A,KCNH2,VCV004614351,4614351,NM_000238.4(KCNH2):c.834_849del (p.Val279fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4614351,4614351,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_000238.4(kcnh2):c.834_849del (p.val279fs) | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150977911:CAT:C,KCNH2,VCV004614346,4614346,NM_000238.4(KCNH2):c.1_2del (p.Met1fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4614346,4614346,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.1_2del (p.met1fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150950421:CTGGGGGCAGGG:C,KCNH2,VCV004614344,4614344,NM_000238.4(KCNH2):c.2146-12_2146-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4614344,4614344,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.2146-12_2146-2del | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150958115:T:TCGTCGGC,KCNH2,VCV004529668,4529668,NM_000238.4(KCNH2):c.853_859dup (p.Asp287fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4529668,4529668,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.853_859dup (p.asp287fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947398:A:AGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATC,KCNH2,VCV004281328,4281328,NM_000238.4(KCNH2):c.3041_3081dup (p.Ser1028fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4281328,4281328,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.3041_3081dup (p.ser1028fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150951686:G:T,KCNH2,VCV004280330,4280330,NM_000238.4(KCNH2):c.1707C>A (p.Tyr569Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4280330,4280330,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1707c>a (p.tyr569ter) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150952518:G:GCGGC,KCNH2,VCV004090314,4090314,NM_000238.4(KCNH2):c.1460_1463dup (p.Ile489fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4090314,4090314,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.1460_1463dup (p.ile489fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150951522:C:A,KCNH2,VCV004074744,4074744,NM_000238.4(KCNH2):c.1871G>T (p.Ser624Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4074744,4074744,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1871g>t (p.ser624ile) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974883:G:GGAC,KCNH2,VCV004074721,4074721,NM_000238.4(KCNH2):c.134_135insGTC (p.Asn45delinsLysSer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4074721,4074721,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.134_135insgtc (p.asn45delinslysser) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150949002:CA:C,KCNH2,VCV004071954,4071954,NM_000238.4(KCNH2):c.2445del (p.Gly816fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4071954,4071954,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.2445del (p.gly816fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948455:CGCCT:C,KCNH2,VCV003911914,3911914,NM_000238.4(KCNH2):c.2677_2680del (p.Arg893fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3911914,3911914,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,unanchored_assertion_state,arrhythmia,False,True,False,-0.0,0.0,cardiac arrhythmia | nm_000238.4(kcnh2):c.2677_2680del (p.arg893fs) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150950971:C:A,KCNH2,VCV003911046,3911046,NM_000238.4(KCNH2):c.2095G>T (p.Glu699Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3911046,3911046,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.2095g>t (p.glu699ter) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150951627:A:G,KCNH2,VCV003900638,3900638,NM_000238.4(KCNH2):c.1766T>C (p.Leu589Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3900638,3900638,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1766t>c (p.leu589pro) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950199:G:C,KCNH2,VCV003895127,3895127,NM_000238.4(KCNH2):c.2367C>G (p.Ile789Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895127,3895127,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.2367c>g (p.ile789met) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150948472:CTTGCGCTTGCG:C,KCNH2,VCV003895051,3895051,NM_000238.4(KCNH2):c.2653_2663del (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895051,3895051,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.2653_2663del (p.arg885fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150977847:C:T,KCNH2,VCV003895040,3895040,NM_000238.4(KCNH2):c.67G>A (p.Glu23Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895040,3895040,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.67g>a (p.glu23lys) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150952746:C:T,KCNH2,VCV003894984,3894984,NM_000238.4(KCNH2):c.1236G>A (p.Trp412Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3894984,3894984,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.1236g>a (p.trp412ter) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150948465:AG:A,KCNH2,VCV003894466,3894466,NM_000238.4(KCNH2):c.2670del (p.Phe891fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894466,3894466,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,unanchored_assertion_state,arrhythmia,False,True,False,-0.0,0.0,cardiac arrhythmia|cardiovascular phenotype | nm_000238.4(kcnh2):c.2670del (p.phe891fs) | arrhythmia | cardiac arrhythmia|cardiovascular phenotype | cardiac arrhythmia|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947792:ACGGCCCCCCCGGC:A,KCNH2,VCV003893973,3893973,NM_000238.4(KCNH2):c.2766_2778del (p.Pro923fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3893973,3893973,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,unanchored_assertion_state,arrhythmia,False,True,False,-0.0,0.0,cardiac arrhythmia | nm_000238.4(kcnh2):c.2766_2778del (p.pro923fs) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150958239:C:CGG,KCNH2,VCV003862757,3862757,NM_000238.4(KCNH2):c.734_735dup (p.Gly246fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3862757,3862757,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.734_735dup (p.gly246fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947802:C:CG,KCNH2,VCV003775096,3775096,NM_000238.4(KCNH2):c.2768dup (p.Pro926fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3775096,3775096,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.2768dup (p.pro926fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947833:GC:G,KCNH2,VCV003773804,3773804,NM_000238.4(KCNH2):c.2737del (p.Ala913fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3773804,3773804,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2737del (p.ala913fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947606:CT:C,KCNH2,VCV003764662,3764662,NM_000238.4(KCNH2):c.2964del (p.Gly989fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3764662,3764662,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.2964del (p.gly989fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150977853:T:TG,KCNH2,VCV003728256,3728256,NM_000238.4(KCNH2):c.60dup (p.Lys21fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3728256,3728256,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.60dup (p.lys21fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974851:CG:C,KCNH2,VCV003724054,3724054,NM_000238.4(KCNH2):c.166del (p.Arg56fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3724054,3724054,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.166del (p.arg56fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948466:G:GGACAACTT,KCNH2,VCV003721525,3721525,NM_000238.4(KCNH2):c.2662_2669dup (p.Phe891fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3721525,3721525,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2662_2669dup (p.phe891fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974776:T:TGCGCGGCA,KCNH2,VCV003720793,3720793,NM_000238.4(KCNH2):c.234_241dup (p.Gln81fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3720793,3720793,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.234_241dup (p.gln81fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951583:C:A,KCNH2,VCV003720791,3720791,NM_000238.4(KCNH2):c.1810G>T (p.Gly604Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3720791,3720791,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1810g>t (p.gly604cys) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950211:GC:G,KCNH2,VCV003720787,3720787,NM_000238.4(KCNH2):c.2354del (p.Gly785fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3720787,3720787,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2354del (p.gly785fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947804:GCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGC:G,KCNH2,VCV003712259,3712259,NM_000238.4(KCNH2):c.2732_2766del (p.Gly911fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3712259,3712259,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2732_2766del (p.gly911fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150952480:T:G,KCNH2,VCV003657287,3657287,NM_000238.4(KCNH2):c.1502A>C (p.Asp501Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3657287,3657287,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1502a>c (p.asp501ala) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974794:TGC:T,KCNH2,VCV003655448,3655448,NM_000238.4(KCNH2):c.222_223del (p.Gln75fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3655448,3655448,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.222_223del (p.gln75fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951069:AG:A,KCNH2,VCV003651645,3651645,NM_000238.4(KCNH2):c.1996del (p.Leu666fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3651645,3651645,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1996del (p.leu666fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958119:CG:C,KCNH2,VCV003651113,3651113,NM_000238.4(KCNH2):c.855del (p.Asp286fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3651113,3651113,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.855del (p.asp286fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950175:GGCCACGACGACGTC:G,KCNH2,VCV003602222,3602222,NM_000238.4(KCNH2):c.2377_2390del (p.Asp793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3602222,3602222,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.2377_2390del (p.asp793fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150974842:A:G,KCNH2,VCV003544416,3544416,NM_000238.4(KCNH2):c.176T>C (p.Val59Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3544416,3544416,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.176t>c (p.val59ala) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951076:G:A,KCNH2,VCV003386898,3386898,NM_000238.4(KCNH2):c.1990C>T (p.Gln664Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3386898,3386898,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1990c>t (p.gln664ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974852:G:A,KCNH2,VCV003383250,3383250,NM_000238.4(KCNH2):c.166C>T (p.Arg56Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3383250,3383250,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.166c>t (p.arg56trp) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951102:A:T,KCNH2,VCV003382540,3382540,NM_000238.4(KCNH2):c.1964T>A (p.Ile655Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3382540,3382540,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1964t>a (p.ile655asn) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951462:A:AC,KCNH2,VCV003376960,3376960,NM_000238.4(KCNH2):c.1930dup (p.Val644fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376960,3376960,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1930dup (p.val644fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947807:GGCCCCGGCTACTCGGCCCT:G,KCNH2,VCV003376939,3376939,NM_000238.4(KCNH2):c.2745_2763del (p.Pro917fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3376939,3376939,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.2745_2763del (p.pro917fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951801:C:G,KCNH2,VCV003370336,3370336,NM_000238.4(KCNH2):c.1592G>C (p.Arg531Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3370336,3370336,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1592g>c (p.arg531pro) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974774:T:TCTGCGCGG,KCNH2,VCV003341931,3341931,NM_000238.4(KCNH2):c.236_243dup (p.Ile82fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3341931,3341931,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.236_243dup (p.ile82fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150952717:G:T,KCNH2,VCV003338328,3338328,NM_000238.4(KCNH2):c.1265C>A (p.Ala422Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3338328,3338328,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1265c>a (p.ala422asp) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947400:AG:A,KCNH2,VCV003255227,3255227,NM_000238.4(KCNH2):c.3079del (p.Leu1027fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3255227,3255227,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.3079del (p.leu1027fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951576:GAGGGGCCGCCCAG:ATACATACTT,KCNH2,VCV003254651,3254651,NM_000238.4(KCNH2):c.1804_1817delinsAAGTATGTAT (p.Leu602fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3254651,3254651,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1804_1817delinsaagtatgtat (p.leu602fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958109:TCGATGTCGTCGGCCGA:T,KCNH2,VCV003254536,3254536,NM_000238.4(KCNH2):c.850_865del (p.Ser284fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3254536,3254536,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.850_865del (p.ser284fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950944:TGTAGG:T,KCNH2,VCV003252026,3252026,NM_000238.4(KCNH2):c.2117_2121del (p.Ser706fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3252026,3252026,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.2117_2121del (p.ser706fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150977842:G:GGC,KCNH2,VCV003236854,3236854,NM_000238.4(KCNH2):c.71_72insGC (p.Gln25fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3236854,3236854,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.71_72insgc (p.gln25fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947367:ACGTCGCCC:A,KCNH2,VCV003230731,3230731,NM_000238.4(KCNH2):c.3105_3112del (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3230731,3230731,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.3105_3112del (p.asp1037fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150974721:G:C,KCNH2,VCV003230730,3230730,NM_000238.4(KCNH2):c.297C>G (p.Tyr99Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3230730,3230730,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_000238.4(kcnh2):c.297c>g (p.tyr99ter) | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950843:TGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGG:T,KCNH2,VCV003230725,3230725,NM_000238.4(KCNH2):c.2013_2145+77del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3230725,3230725,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.2013_2145+77del | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150952852:A:AC,KCNH2,VCV003076042,3076042,NC_000007.14:g.150952854dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3076042,3076042,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,congenital long qt syndrome | nc_000007.14:g.150952854dup | lqts | congenital long qt syndrome | congenital long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150952817:TG:T,KCNH2,VCV003076025,3076025,NM_000238.4(KCNH2):c.1164del (p.Glu387_Tyr388insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3076025,3076025,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,congenital long qt syndrome | nm_000238.4(kcnh2):c.1164del (p.glu387_tyr388inster) | lqts | congenital long qt syndrome | congenital long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947857:A:ACCTC,KCNH2,VCV003075307,3075307,NM_000238.4(KCNH2):c.2710_2713dup (p.Val905fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3075307,3075307,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2710_2713dup (p.val905fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950920:CCG:C,KCNH2,VCV003074111,3074111,NM_000238.4(KCNH2):c.2144_2145del (p.Ala715fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3074111,3074111,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2144_2145del (p.ala715fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951479:CT:C,KCNH2,VCV003068475,3068475,NM_000238.4(KCNH2):c.1913del (p.Lys638fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3068475,3068475,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1913del (p.lys638fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951530:G:T,KCNH2,VCV003066169,3066169,NM_000238.4(KCNH2):c.1863C>A (p.Ser621Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3066169,3066169,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1863c>a (p.ser621arg) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951730:A:G,KCNH2,VCV003064233,3064233,NM_000238.4(KCNH2):c.1663T>C (p.Cys555Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3064233,3064233,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1663t>c (p.cys555arg) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958303:CCCTG:C,KCNH2,VCV002918473,2918473,NM_000238.4(KCNH2):c.668_671del (p.Ala223fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2918473,2918473,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.668_671del (p.ala223fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150946999:G:A,KCNH2,VCV002906537,2906537,NM_000238.4(KCNH2):c.3208C>T (p.Gln1070Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2906537,2906537,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3208c>t (p.gln1070ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974750:C:A,KCNH2,VCV002880265,2880265,NM_000238.4(KCNH2):c.268G>T (p.Glu90Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2880265,2880265,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.268g>t (p.glu90ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958139:AC:A,KCNH2,VCV002858211,2858211,NM_000238.4(KCNH2):c.835del (p.Val279fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2858211,2858211,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.835del (p.val279fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150946925:C:CA,KCNH2,VCV002832789,2832789,NM_000238.4(KCNH2):c.3281dup (p.Leu1095fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2832789,2832789,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3281dup (p.leu1095fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948906:ACTCAGGGT:A,KCNH2,VCV002821739,2821739,NM_000238.4(KCNH2):c.2534_2541del (p.Tyr845fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2821739,2821739,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2534_2541del (p.tyr845fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150952722:G:C,KCNH2,VCV002814358,2814358,NM_000238.4(KCNH2):c.1260C>G (p.Tyr420Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2814358,2814358,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1260c>g (p.tyr420ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150957440:AG:A,KCNH2,VCV002813131,2813131,NM_000238.4(KCNH2):c.978del (p.Tyr327fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2813131,2813131,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.978del (p.tyr327fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958217:G:GC,KCNH2,VCV002790199,2790199,NM_000238.4(KCNH2):c.757dup (p.Ala253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2790199,2790199,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.757dup (p.ala253fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948995:G:C,KCNH2,VCV002773436,2773436,NM_000238.4(KCNH2):c.2453C>G (p.Ser818Trp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2773436,2773436,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,cardiac arrhythmia|long qt syndrome | nm_000238.4(kcnh2):c.2453c>g (p.ser818trp) | lqts|arrhythmia | cardiac arrhythmia|long qt syndrome | cardiac arrhythmia|long qt syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +7:150947795:GCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCC:G,KCNH2,VCV002773424,2773424,NM_000238.4(KCNH2):c.2742_2775del (p.Ala915fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2773424,2773424,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,unanchored_assertion_state,arrhythmia,False,True,False,-0.0,0.0,cardiac arrhythmia | nm_000238.4(kcnh2):c.2742_2775del (p.ala915fs) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150952632:C:CTGGCAGGCGTAGCCACACTCGG,KCNH2,VCV002772506,2772506,NM_000238.4(KCNH2):c.1328_1349dup (p.Gln450fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2772506,2772506,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1328_1349dup (p.gln450fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950146:GTGCCCGCCCCCCACCCCATACC:G,KCNH2,VCV002770983,2770983,NM_000238.4(KCNH2):c.2398_2398+21del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2770983,2770983,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2398_2398+21del | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947384:C:CCG,KCNH2,VCV002763043,2763043,NM_000238.4(KCNH2):c.3094_3095dup (p.Arg1033fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2763043,2763043,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3094_3095dup (p.arg1033fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150952800:GC:G,KCNH2,VCV002760013,2760013,NM_000238.4(KCNH2):c.1181del (p.Arg394fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2760013,2760013,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1181del (p.arg394fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951768:TA:T,KCNH2,VCV002758800,2758800,NM_000238.4(KCNH2):c.1624del (p.Tyr542fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2758800,2758800,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1624del (p.tyr542fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150946808:AGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCT:A,KCNH2,VCV002758297,2758297,NM_000238.4(KCNH2):c.3194_3330+68del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2758297,2758297,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3194_3330+68del | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958207:G:GA,KCNH2,VCV002754986,2754986,NM_000238.4(KCNH2):c.767dup (p.Asn257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2754986,2754986,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.767dup (p.asn257fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958315:GT:G,KCNH2,VCV002753718,2753718,NM_000238.4(KCNH2):c.659del (p.Asn220fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2753718,2753718,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.659del (p.asn220fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948483:G:GTTGCC,KCNH2,VCV002748964,2748964,NM_000238.4(KCNH2):c.2648_2652dup (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2748964,2748964,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2648_2652dup (p.arg885fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951767:G:T,KCNH2,VCV002748626,2748626,NM_000238.4(KCNH2):c.1626C>A (p.Tyr542Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2748626,2748626,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1626c>a (p.tyr542ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974846:C:A,KCNH2,VCV002746100,2746100,NM_000238.4(KCNH2):c.172G>T (p.Glu58Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2746100,2746100,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.172g>t (p.glu58ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947378:G:GGGCC,KCNH2,VCV002745936,2745936,NM_000238.4(KCNH2):c.3098_3101dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2745936,2745936,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3098_3101dup (p.arg1035fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947055:C:G,KCNH2,VCV002744101,2744101,NM_000238.4(KCNH2):c.3153-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2744101,2744101,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3153-1g>c | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951515:GC:G,KCNH2,VCV002735100,2735100,NM_000238.4(KCNH2):c.1877del (p.Gly626fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2735100,2735100,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1877del (p.gly626fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951109:CA:C,KCNH2,VCV002735098,2735098,NM_000238.4(KCNH2):c.1956del (p.Met651_Tyr652insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2735098,2735098,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1956del (p.met651_tyr652inster) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150949051:T:C,KCNH2,VCV002735096,2735096,NM_000238.4(KCNH2):c.2399-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2735096,2735096,Long QT syndrome||Long QT syndrome 2,Long QT syndrome||Long QT syndrome 2,Long QT syndrome||Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome||long qt syndrome 2 | nm_000238.4(kcnh2):c.2399-2a>g | lqts | long qt syndrome||long qt syndrome 2 | long qt syndrome||long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958121:GCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTT:ACGCCTCGGGCTC,KCNH2,VCV002727880,2727880,NM_000238.4(KCNH2):c.769_854delinsGAGCCCGAGGCGT (p.Asn257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2727880,2727880,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.769_854delinsgagcccgaggcgt (p.asn257fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950402:CAG:C,KCNH2,VCV002725070,2725070,NM_000238.4(KCNH2):c.2162_2163del (p.Pro721fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2725070,2725070,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2162_2163del (p.pro721fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950409:G:GC,KCNH2,VCV002698764,2698764,NM_000238.4(KCNH2):c.2156dup (p.Phe720fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2698764,2698764,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2156dup (p.phe720fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947804:GCCGGCCCCGGCTACTCGGC:G,KCNH2,VCV002694065,2694065,NM_000238.4(KCNH2):c.2748_2766del (p.Pro917fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2694065,2694065,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2748_2766del (p.pro917fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150946949:A:AC,KCNH2,VCV002687478,2687478,NM_000238.4(KCNH2):c.3257_3258insG (p.Gly1087fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2687478,2687478,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.3257_3258insg (p.gly1087fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951639:C:T,KCNH2,VCV002665002,2665002,NM_000238.4(KCNH2):c.1754G>A (p.Trp585Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2665002,2665002,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1754g>a (p.trp585ter) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947853:CG:C,KCNH2,VCV002664629,2664629,NM_000238.4(KCNH2):c.2717del (p.Ser906fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2664629,2664629,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.2717del (p.ser906fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947683:G:GGCCT,KCNH2,VCV002637626,2637626,NM_000238.4(KCNH2):c.2884_2887dup (p.Pro963fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2637626,2637626,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,unanchored_assertion_state,arrhythmia,False,True,False,-0.0,0.0,cardiac arrhythmia|cardiovascular phenotype | nm_000238.4(kcnh2):c.2884_2887dup (p.pro963fs) | arrhythmia | cardiac arrhythmia|cardiovascular phenotype | cardiac arrhythmia|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150957325:TC:T,KCNH2,VCV002579645,2579645,NM_000238.4(KCNH2):c.1093del (p.Glu365fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2579645,2579645,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1093del (p.glu365fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948983:A:G,KCNH2,VCV002575020,2575020,NM_000238.4(KCNH2):c.2465T>C (p.Val822Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575020,2575020,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.2465t>c (p.val822ala) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150951699:G:C,KCNH2,VCV002574032,2574032,NM_000238.4(KCNH2):c.1694C>G (p.Ala565Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2574032,2574032,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1694c>g (p.ala565gly) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947360:GCTCTCCACGTCGCCCCG:CCGCCGACCC,KCNH2,VCV002571299,2571299,NM_000238.4(KCNH2):c.3103_3120delinsGGGTCGGCGG (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2571299,2571299,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.3103_3120delinsgggtcggcgg (p.arg1035fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947643:GT:G,KCNH2,VCV002567296,2567296,NM_000238.4(KCNH2):c.2927del (p.Asp976fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2567296,2567296,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.2927del (p.asp976fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150951447:C:G,KCNH2,VCV002452993,2452993,NM_000238.4(KCNH2):c.1945+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2452993,2452993,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.1945+1g>c | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150957427:CT:C,KCNH2,VCV002442075,2442075,NM_000238.4(KCNH2):c.991del (p.Ser331fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2442075,2442075,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2|long qt syndrome | nm_000238.4(kcnh2):c.991del (p.ser331fs) | lqts | long qt syndrome 2|long qt syndrome | long qt syndrome 2|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150946928:CGG:C,KCNH2,VCV002429379,2429379,NM_000238.4(KCNH2):c.3277_3278del (p.Pro1093fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2429379,2429379,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3277_3278del (p.pro1093fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947713:A:AG,KCNH2,VCV002227986,2227986,NM_000238.4(KCNH2):c.2857dup (p.Leu953fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2227986,2227986,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_000238.4(kcnh2):c.2857dup (p.leu953fs) | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951459:A:C,KCNH2,VCV002136626,2136626,NM_000238.4(KCNH2):c.1934T>G (p.Met645Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2136626,2136626,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1934t>g (p.met645arg) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947034:G:GC,KCNH2,VCV002136623,2136623,NM_000238.4(KCNH2):c.3172dup (p.Ala1058fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2136623,2136623,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3172dup (p.ala1058fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150952634:GGCAGGCGTAGCCACACTCGGTA:G,KCNH2,VCV002133333,2133333,NM_000238.4(KCNH2):c.1326_1347del (p.Thr443fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2133333,2133333,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1326_1347del (p.thr443fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150945474:G:GC,KCNH2,VCV002130516,2130516,NM_000238.4(KCNH2):c.3370dup (p.Ala1124fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2130516,2130516,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3370dup (p.ala1124fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948544:C:G,KCNH2,VCV002128179,2128179,NM_000238.4(KCNH2):c.2593-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2128179,2128179,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2593-1g>c | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951045:TGGTA:T,KCNH2,VCV002125899,2125899,NM_000238.4(KCNH2):c.2017_2020del (p.Tyr673fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2125899,2125899,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2017_2020del (p.tyr673fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951488:G:T,KCNH2,VCV002121024,2121024,NM_000238.4(KCNH2):c.1905C>A (p.Asn635Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2121024,2121024,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1905c>a (p.asn635lys) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951710:CGCGATGA:C,KCNH2,VCV002120904,2120904,NM_000238.4(KCNH2):c.1676_1682del (p.Leu559fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2120904,2120904,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1676_1682del (p.leu559fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951812:CG:C,KCNH2,VCV002095758,2095758,NM_000238.4(KCNH2):c.1580del (p.Ala527fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2095758,2095758,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1580del (p.ala527fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951469:TGGA:T,KCNH2,VCV002088283,2088283,NM_000238.4(KCNH2):c.1921_1923del (p.Ser641del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2088283,2088283,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1921_1923del (p.ser641del) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947872:T:TC,KCNH2,VCV002085464,2085464,NM_000238.4(KCNH2):c.2698dup (p.Glu900fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2085464,2085464,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2698dup (p.glu900fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950260:A:AGT,KCNH2,VCV002078663,2078663,NM_000238.4(KCNH2):c.2304_2305dup (p.Leu769fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2078663,2078663,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2304_2305dup (p.leu769fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950406:G:GA,KCNH2,VCV002071298,2071298,NM_000238.4(KCNH2):c.2159dup (p.Pro721_Glu722insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2071298,2071298,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2159dup (p.pro721_glu722inster) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950961:TG:T,KCNH2,VCV002062924,2062924,NM_000238.4(KCNH2):c.2104del (p.Gln702fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2062924,2062924,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2104del (p.gln702fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951769:A:G,KCNH2,VCV002055725,2055725,NM_000238.4(KCNH2):c.1624T>C (p.Tyr542His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2055725,2055725,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1624t>c (p.tyr542his) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951690:C:T,KCNH2,VCV002042701,2042701,NM_000238.4(KCNH2):c.1703G>A (p.Trp568Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2042701,2042701,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|cardiovascular phenotype | nm_000238.4(kcnh2):c.1703g>a (p.trp568ter) | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150946955:C:CGGGGTGG,KCNH2,VCV002033107,2033107,NM_000238.4(KCNH2):c.3245_3251dup (p.Gly1085fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2033107,2033107,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3245_3251dup (p.gly1085fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951345:AGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCAT:A,KCNH2,VCV002032030,2032030,NM_000238.4(KCNH2):c.1720_1945+102del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2032030,2032030,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1720_1945+102del | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958414:GCCGCCCGCGCCGC:G,KCNH2,VCV002023450,2023450,NM_000238.4(KCNH2):c.548_560del (p.Gly183fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2023450,2023450,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.548_560del (p.gly183fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951627:A:AGGTT,KCNH2,VCV002016168,2016168,NM_000238.4(KCNH2):c.1762_1765dup (p.Leu589fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2016168,2016168,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1762_1765dup (p.leu589fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947376:C:CGGGG,KCNH2,VCV002012895,2012895,NM_000238.4(KCNH2):c.3100_3103dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2012895,2012895,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3100_3103dup (p.arg1035fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947718:GCTGGAGCTGCGGC:G,KCNH2,VCV002002742,2002742,NM_000238.4(KCNH2):c.2840_2852del (p.Gly947fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2002742,2002742,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2840_2852del (p.gly947fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958414:GCCGCCCGC:G,KCNH2,VCV001994302,1994302,NM_000238.4(KCNH2):c.553_560del (p.Ala185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1994302,1994302,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.553_560del (p.ala185fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950275:G:GGT,KCNH2,VCV001994292,1994292,NM_000238.4(KCNH2):c.2289_2290dup (p.Pro764fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1994292,1994292,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2289_2290dup (p.pro764fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958488:AG:A,KCNH2,VCV001968946,1968946,NM_000238.4(KCNH2):c.486del (p.Phe163fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1968946,1968946,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.486del (p.phe163fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150957404:T:A,KCNH2,VCV001805233,1805233,NM_000238.4(KCNH2):c.1015A>T (p.Asn339Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1805233,1805233,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1015a>t (p.asn339tyr) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947380:G:GC,KCNH2,VCV001804945,1804945,NM_000238.4(KCNH2):c.3099dup (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1804945,1804945,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2|long qt syndrome | nm_000238.4(kcnh2):c.3099dup (p.pro1034fs) | lqts | long qt syndrome 2|long qt syndrome | long qt syndrome 2|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150957290:C:G,KCNH2,VCV001799488,1799488,NM_000238.4(KCNH2):c.1128+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1799488,1799488,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.1128+1g>c | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947667:C:CGGCG,KCNH2,VCV001797445,1797445,NM_000238.4(KCNH2):c.2900_2903dup (p.Gly969fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1797445,1797445,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_000238.4(kcnh2):c.2900_2903dup (p.gly969fs) | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947676:TC:T,KCNH2,VCV001797337,1797337,NM_000238.4(KCNH2):c.2894del (p.Gly965fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1797337,1797337,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_000238.4(kcnh2):c.2894del (p.gly965fs) | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947808:G:GC,KCNH2,VCV001795706,1795706,NM_000238.4(KCNH2):c.2762dup (p.Arg922fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1795706,1795706,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_000238.4(kcnh2):c.2762dup (p.arg922fs) | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947819:TCGGCCCTGCCCCCGCC:T,KCNH2,VCV001795334,1795334,NM_000238.4(KCNH2):c.2736_2751del (p.Ala913fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1795334,1795334,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.2736_2751del (p.ala913fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947836:C:CG,KCNH2,VCV001795320,1795320,NM_000238.4(KCNH2):c.2734dup (p.Arg912fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1795320,1795320,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.2734dup (p.arg912fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947826:TGCCCCCGCCCGGCCCG:T,KCNH2,VCV001795256,1795256,NM_000238.4(KCNH2):c.2729_2744del (p.Pro910fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1795256,1795256,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_000238.4(kcnh2):c.2729_2744del (p.pro910fs) | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948488:CG:C,KCNH2,VCV001794263,1794263,NM_000238.4(KCNH2):c.2647del (p.Arg883fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1794263,1794263,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.2647del (p.arg883fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150948880:C:CA,KCNH2,VCV001793177,1793177,NM_000238.4(KCNH2):c.2567dup (p.Glu857fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1793177,1793177,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.2567dup (p.glu857fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150950189:C:CG,KCNH2,VCV001790360,1790360,NM_000238.4(KCNH2):c.2376dup (p.Asp793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1790360,1790360,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.2376dup (p.asp793fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150974788:CG:A,KCNH2,VCV001789092,1789092,NM_000238.4(KCNH2):c.229_230delinsT (p.Arg77fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1789092,1789092,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.229_230delinst (p.arg77fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150950421:C:G,KCNH2,VCV001786650,1786650,NM_000238.4(KCNH2):c.2146-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1786650,1786650,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_000238.4(kcnh2):c.2146-1g>c | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974746:TCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAG:T,KCNH2,VCV001785054,1785054,NM_000238.4(KCNH2):c.205_271del (p.Leu69fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1785054,1785054,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.205_271del (p.leu69fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150951106:TAGCAT:A,KCNH2,VCV001783287,1783287,NM_000238.4(KCNH2):c.1955_1960delinsT (p.Tyr652fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1783287,1783287,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_000238.4(kcnh2):c.1955_1960delinst (p.tyr652fs) | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951650:TG:T,KCNH2,VCV001779222,1779222,NM_000238.4(KCNH2):c.1742del (p.Ser581fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1779222,1779222,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.1742del (p.ser581fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150951731:CAT:C,KCNH2,VCV001777473,1777473,NM_000238.4(KCNH2):c.1660_1661del (p.Met554fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1777473,1777473,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.1660_1661del (p.met554fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150952596:C:CA,KCNH2,VCV001771379,1771379,NM_000238.4(KCNH2):c.1385dup (p.Met462fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1771379,1771379,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.1385dup (p.met462fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150957503:C:A,KCNH2,VCV001766052,1766052,NM_000238.4(KCNH2):c.917-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1766052,1766052,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.917-1g>t | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150958070:TGGCGCGGTGGCGG:T,KCNH2,VCV001765131,1765131,NM_000238.4(KCNH2):c.892_904del (p.Pro298fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1765131,1765131,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.892_904del (p.pro298fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150974931:G:C,KCNH2,VCV001764714,1764714,NM_000238.4(KCNH2):c.87C>G (p.Phe29Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1764714,1764714,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.87c>g (p.phe29leu) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150958047:CGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCT:C,KCNH2,VCV001762927,1762927,NM_000238.4(KCNH2):c.832_916+11del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1762927,1762927,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.832_916+11del | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150958239:C:CG,KCNH2,VCV001758500,1758500,NM_000238.4(KCNH2):c.735dup (p.Gly246fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1758500,1758500,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.735dup (p.gly246fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150958417:G:GC,KCNH2,VCV001748411,1748411,NM_000238.4(KCNH2):c.557dup (p.Gly187fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1748411,1748411,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.557dup (p.gly187fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150959576:GGCCA:G,KCNH2,VCV001742104,1742104,NM_000238.4(KCNH2):c.464_467del (p.Leu155fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1742104,1742104,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.464_467del (p.leu155fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150959582:C:T,KCNH2,VCV001742024,1742024,NM_000238.4(KCNH2):c.462G>A (p.Trp154Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1742024,1742024,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_000238.4(kcnh2):c.462g>a (p.trp154ter) | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150959646:AT:A,KCNH2,VCV001736686,1736686,NM_000238.4(KCNH2):c.397del (p.Met133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1736686,1736686,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.397del (p.met133fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947385:CGA:C,KCNH2,VCV001727478,1727478,NM_000238.4(KCNH2):c.3093_3094del (p.Arg1032fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1727478,1727478,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.3093_3094del (p.arg1032fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150950163:C:T,KCNH2,VCV001713142,1713142,NM_000238.4(KCNH2):c.2398+5G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1713142,1713142,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.2398+5g>a | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958105:G:GGCCTC,KCNH2,VCV001711664,1711664,NM_000238.4(KCNH2):c.865_869dup (p.Met291fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1711664,1711664,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.865_869dup (p.met291fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947667:C:CG,KCNH2,VCV001711663,1711663,NM_000238.4(KCNH2):c.2903dup (p.Gly970fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1711663,1711663,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2903dup (p.gly970fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950365:C:CGGCT,KCNH2,VCV001701539,1701539,NM_000238.4(KCNH2):c.2200_2201insAGCC (p.Arg734fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1701539,1701539,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.2200_2201insagcc (p.arg734fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150951573:AT:A,KCNH2,VCV001698966,1698966,NM_000238.4(KCNH2):c.1819del (p.Ile607fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1698966,1698966,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,congenital long qt syndrome | nm_000238.4(kcnh2):c.1819del (p.ile607fs) | lqts | congenital long qt syndrome | congenital long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974937:AC:A,KCNH2,VCV001683771,1683771,NM_000238.4(KCNH2):c.80del (p.Arg27fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1683771,1683771,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.80del (p.arg27fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150959644:C:A,KCNH2,VCV001683770,1683770,NM_000238.4(KCNH2):c.400G>T (p.Glu134Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1683770,1683770,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.400g>t (p.glu134ter) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951528:A:T,KCNH2,VCV001676088,1676088,NM_000238.4(KCNH2):c.1865T>A (p.Leu622His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1676088,1676088,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.1865t>a (p.leu622his) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150951789:ACGCGCACCAGCCGCAGCAGCCG:A,KCNH2,VCV001675096,1675096,NM_000238.4(KCNH2):c.1582_1603del (p.Arg528fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1675096,1675096,Short QT syndrome type 1;Long QT syndrome 2,Short QT syndrome type 1;Long QT syndrome 2,Short QT syndrome type 1;Long QT syndrome 2,variation_id,disease_model_collision,LQTS|SQTS,True,True,False,1.0,0.0,short qt syndrome type 1;long qt syndrome 2 | nm_000238.4(kcnh2):c.1582_1603del (p.arg528fs) | lqts|sqts | short qt syndrome type 1;long qt syndrome 2 | short qt syndrome type 1;long qt syndrome 2 | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +7:150947814:G:GCTACTCGGCCCTGCCCCCGCCCGGCC,KCNH2,VCV001527874,1527874,NM_000238.4(KCNH2):c.2731_2756dup (p.Ser919fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1527874,1527874,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.2731_2756dup (p.ser919fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150952585:T:G,KCNH2,VCV001527873,1527873,NM_000238.4(KCNH2):c.1397A>C (p.Asp466Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1527873,1527873,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1397a>c (p.asp466ala) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150977911:C:T,KCNH2,VCV001524546,1524546,NM_000238.4(KCNH2):c.3G>A (p.Met1Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1524546,1524546,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3g>a (p.met1ile) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951121:C:G,KCNH2,VCV001521307,1521307,NM_000238.4(KCNH2):c.1946-1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1521307,1521307,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1946-1g>c | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948959:AGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTG:A,KCNH2,VCV001499958,1499958,NM_000238.4(KCNH2):c.2399-108_2488del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1499958,1499958,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2399-108_2488del | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150957504:T:C,KCNH2,VCV001488212,1488212,NM_000238.4(KCNH2):c.917-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1488212,1488212,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.917-2a>g | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951836:C:G,KCNH2,VCV001473108,1473108,NM_000238.4(KCNH2):c.1558-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1473108,1473108,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1558-1g>c | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150952693:G:T,KCNH2,VCV001467197,1467197,NM_000238.4(KCNH2):c.1289C>A (p.Ala430Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1467197,1467197,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1289c>a (p.ala430asp) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974784:AGCGCGGCGCTGCGT:A,KCNH2,VCV001458718,1458718,NM_000238.4(KCNH2):c.220_233del (p.Thr74fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1458718,1458718,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|cardiovascular phenotype | nm_000238.4(kcnh2):c.220_233del (p.thr74fs) | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150959621:C:CG,KCNH2,VCV001458716,1458716,NM_000238.4(KCNH2):c.422dup (p.Ala142fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1458716,1458716,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|cardiovascular phenotype | nm_000238.4(kcnh2):c.422dup (p.ala142fs) | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150952677:CTCCTTCA:C,KCNH2,VCV001457690,1457690,NM_000238.4(KCNH2):c.1298_1304del (p.Leu433fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1457690,1457690,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1298_1304del (p.leu433fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950952:C:T,KCNH2,VCV001456278,1456278,NM_000238.4(KCNH2):c.2114G>A (p.Trp705Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1456278,1456278,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2114g>a (p.trp705ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974807:C:CGTGCAGGAAGTCGCAG,KCNH2,VCV001456173,1456173,NM_000238.4(KCNH2):c.195_210dup (p.Gly71fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1456173,1456173,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.195_210dup (p.gly71fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150949012:A:T,KCNH2,VCV001455507,1455507,NM_000238.4(KCNH2):c.2436T>A (p.Tyr812Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1455507,1455507,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2436t>a (p.tyr812ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948451:CG:C,KCNH2,VCV001455493,1455493,NM_000238.4(KCNH2):c.2684del (p.Thr895fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1455493,1455493,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2684del (p.thr895fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150959579:CA:C,KCNH2,VCV001453664,1453664,NM_000238.4(KCNH2):c.464del (p.Leu155fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1453664,1453664,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.464del (p.leu155fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958153:TTCTCGGGAGCGCG:T,KCNH2,VCV001452777,1452777,NM_000238.4(KCNH2):c.809_821del (p.Thr270fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1452777,1452777,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.809_821del (p.thr270fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950944:T:TGTAG,KCNH2,VCV001452601,1452601,NM_000238.4(KCNH2):c.2118_2121dup (p.Thr708fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1452601,1452601,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2118_2121dup (p.thr708fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947392:G:GGC,KCNH2,VCV001452025,1452025,NM_000238.4(KCNH2):c.3086_3087dup (p.Pro1030fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1452025,1452025,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3086_3087dup (p.pro1030fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948910:AGG:A,KCNH2,VCV001439179,1439179,NM_000238.4(KCNH2):c.2536_2537del (p.Tyr845_Pro846insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1439179,1439179,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2536_2537del (p.tyr845_pro846inster) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150945386:G:GT,KCNH2,VCV001434518,1434518,NM_000238.4(KCNH2):c.3458dup (p.His1153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1434518,1434518,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3458dup (p.his1153fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951471:G:T,KCNH2,VCV001424837,1424837,NM_000238.4(KCNH2):c.1922C>A (p.Ser641Tyr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1424837,1424837,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|cardiovascular phenotype | nm_000238.4(kcnh2):c.1922c>a (p.ser641tyr) | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947440:GA:G,KCNH2,VCV001422891,1422891,NM_000238.4(KCNH2):c.3039del (p.Arg1014fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1422891,1422891,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3039del (p.arg1014fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947370:T:TCGCCC,KCNH2,VCV001414553,1414553,NM_000238.4(KCNH2):c.3105_3109dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1414553,1414553,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,long qt syndrome|cardiac arrhythmia | nm_000238.4(kcnh2):c.3105_3109dup (p.asp1037fs) | lqts|arrhythmia | long qt syndrome|cardiac arrhythmia | long qt syndrome|cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +7:150958169:CG:C,KCNH2,VCV001410227,1410227,NM_000238.4(KCNH2):c.805del (p.Arg269fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1410227,1410227,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.805del (p.arg269fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948889:C:T,KCNH2,VCV001406991,1406991,NM_000238.4(KCNH2):c.2559G>A (p.Trp853Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1406991,1406991,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2559g>a (p.trp853ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947629:C:CTGCTCTTCTCG,KCNH2,VCV001398420,1398420,NM_000238.4(KCNH2):c.2931_2941dup (p.Ser981fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1398420,1398420,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2931_2941dup (p.ser981fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951763:C:CT,KCNH2,VCV001397577,1397577,NM_000238.4(KCNH2):c.1629dup (p.Glu544fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1397577,1397577,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,long qt syndrome|cardiac arrhythmia | nm_000238.4(kcnh2):c.1629dup (p.glu544fs) | lqts|arrhythmia | long qt syndrome|cardiac arrhythmia | long qt syndrome|cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +7:150959625:GA:G,KCNH2,VCV001338861,1338861,NM_000238.4(KCNH2):c.418del (p.Ser140fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1338861,1338861,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.418del (p.ser140fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150977872:GA:G,KCNH2,VCV001335697,1335697,NM_000238.4(KCNH2):c.41del (p.Phe14fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1335697,1335697,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.41del (p.phe14fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150957290:C:T,KCNH2,VCV001334904,1334904,NM_000238.4(KCNH2):c.1128+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1334904,1334904,Prolonged QT interval|Long QT syndrome,Prolonged QT interval|Long QT syndrome,Prolonged QT interval|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,prolonged qt interval|long qt syndrome | nm_000238.4(kcnh2):c.1128+1g>a | lqts | prolonged qt interval|long qt syndrome | prolonged qt interval|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150977836:A:T,KCNH2,VCV001331098,1331098,NM_000238.4(KCNH2):c.76+2T>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,1331098,1331098,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2|long qt syndrome | nm_000238.4(kcnh2):c.76+2t>a | lqts | long qt syndrome 2|long qt syndrome | long qt syndrome 2|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958185:TGGAGCCCGAGGCGTCG:T,KCNH2,VCV001323136,1323136,NM_000238.4(KCNH2):c.774_789del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1323136,1323136,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.774_789del (p.asp259fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150951685:C:A,KCNH2,VCV001284270,1284270,NM_000238.4(KCNH2):c.1708G>T (p.Ala570Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1284270,1284270,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.1708g>t (p.ala570ser) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947796:CC:A,KCNH2,VCV001219815,1219815,NM_000238.4(KCNH2):c.2774_2775delinsT (p.Gly925fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1219815,1219815,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_000238.4(kcnh2):c.2774_2775delinst (p.gly925fs) | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150957460:G:T,KCNH2,VCV001215035,1215035,NM_000238.4(KCNH2):c.959C>A (p.Ser320Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1215035,1215035,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.959c>a (p.ser320ter) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150951592:CG:C,KCNH2,VCV001213540,1213540,NM_000238.4(KCNH2):c.1800del (p.Ser600fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1213540,1213540,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.1800del (p.ser600fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150977836:A:AC,KCNH2,VCV001211558,1211558,NM_000238.4(KCNH2):c.76+1dup,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1211558,1211558,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.76+1dup | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150958394:ACGGCCCCCGGGGCGCCCGCGCCGCCCGC:CCCGGT,KCNH2,VCV001202184,1202184,NM_000238.4(KCNH2):c.553_581delinsACCGGG (p.Ala185fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1202184,1202184,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.553_581delinsaccggg (p.ala185fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150950957:GT:G,KCNH2,VCV001201653,1201653,NM_000238.4(KCNH2):c.2108del (p.His703fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1201653,1201653,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.2108del (p.his703fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947447:CT:C,KCNH2,VCV001191999,1191999,NM_000238.4(KCNH2):c.3032del (p.Glu1011fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1191999,1191999,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.3032del (p.glu1011fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150951535:T:C,KCNH2,VCV001189275,1189275,NM_000238.4(KCNH2):c.1858A>G (p.Ser620Gly),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1189275,1189275,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1858a>g (p.ser620gly) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150952557:G:T,KCNH2,VCV001178326,1178326,NM_000238.4(KCNH2):c.1425C>A (p.Tyr475Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1178326,1178326,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1425c>a (p.tyr475ter) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950421:C:T,KCNH2,VCV001163877,1163877,NM_000238.4(KCNH2):c.2146-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1163877,1163877,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.2146-1g>a | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947611:A:AG,KCNH2,VCV001098796,1098796,NM_000238.4(KCNH2):c.2959dup (p.Leu987fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1098796,1098796,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,unanchored_assertion_state,arrhythmia,False,True,False,-0.0,0.0,cardiac arrhythmia | nm_000238.4(kcnh2):c.2959dup (p.leu987fs) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150948450:C:CCGTG,KCNH2,VCV001076538,1076538,NM_000238.4(KCNH2):c.2682_2685dup (p.Asp896fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1076538,1076538,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2682_2685dup (p.asp896fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150946951:G:GC,KCNH2,VCV001076264,1076264,NM_000238.4(KCNH2):c.3255dup (p.Pro1086fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1076264,1076264,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3255dup (p.pro1086fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947371:CGCCCCGGG:C,KCNH2,VCV001074304,1074304,NM_000238.4(KCNH2):c.3101_3108del (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1074304,1074304,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|cardiovascular phenotype | nm_000238.4(kcnh2):c.3101_3108del (p.pro1034fs) | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947639:C:CGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCCTCCAG,KCNH2,VCV001073738,1073738,NM_000238.4(KCNH2):c.2931_2932insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu978fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1073738,1073738,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2931_2932insctggaggcccttctccagccccaggccccccggagagccgccgggtggggagcccctgatggaggactgc (p.glu978fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150957462:GGT:G,KCNH2,VCV001072804,1072804,NM_000238.4(KCNH2):c.955_956del (p.Thr319fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1072804,1072804,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.955_956del (p.thr319fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948455:C:CGCCTG,KCNH2,VCV001072580,1072580,NM_000238.4(KCNH2):c.2676_2680dup (p.Arg894fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1072580,1072580,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2676_2680dup (p.arg894fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947373:C:CCCCGGGGCCG,KCNH2,VCV001072040,1072040,NM_000238.4(KCNH2):c.3097_3106dup (p.Gly1036fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1072040,1072040,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3097_3106dup (p.gly1036fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951681:A:ATGGCG,KCNH2,VCV001070567,1070567,NM_000238.4(KCNH2):c.1707_1711dup (p.Ile571fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1070567,1070567,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1707_1711dup (p.ile571fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947380:GCCGCCGACCCGGGC:G,KCNH2,VCV001070541,1070541,NM_000238.4(KCNH2):c.3086_3099del (p.Ser1029fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1070541,1070541,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3086_3099del (p.ser1029fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974775:CTGCGCGGCAGCGCGGCGCTGCG:C,KCNH2,VCV001070208,1070208,NM_000238.4(KCNH2):c.221_242del (p.Thr74fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1070208,1070208,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.221_242del (p.thr74fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958418:CCCGCGCCGCCCGA:C,KCNH2,VCV001069329,1069329,NM_000238.4(KCNH2):c.544_556del (p.Ser182fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1069329,1069329,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.544_556del (p.ser182fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150952509:GACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGT:G,KCNH2,VCV001069284,1069284,NM_000238.4(KCNH2):c.1420_1472del (p.Thr474fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1069284,1069284,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1420_1472del (p.thr474fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948892:GA:G,KCNH2,VCV001068978,1068978,NM_000238.4(KCNH2):c.2555del (p.Phe852fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1068978,1068978,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2555del (p.phe852fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951565:T:C,KCNH2,VCV001066309,1066309,NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1066309,1066309,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1828a>g (p.lys610glu) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150957276:CCGCTGGGCGC:GT,KCNH2,VCV001064627,1064627,NM_000238.4(KCNH2):c.1128+5_1128+15delinsAC,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1064627,1064627,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1128+5_1128+15delinsac | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150949076:CT:C,KCNH2,VCV001064605,1064605,NM_000238.4(KCNH2):c.2399-28del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1064605,1064605,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.2399-28del | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951562:ACTTGTC:A,KCNH2,VCV001058879,1058879,NM_000238.4(KCNH2):c.1825_1830del (p.Asp609_Lys610del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1058879,1058879,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1825_1830del (p.asp609_lys610del) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951496:T:G,KCNH2,VCV001001814,1001814,NM_000238.4(KCNH2):c.1897A>C (p.Asn633His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1001814,1001814,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1897a>c (p.asn633his) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947162:GGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCC:G,KCNH2,VCV000992792,992792,NM_000238.4(KCNH2):c.2692+167_3153-109del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,992792,992792,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.2692+167_3153-109del | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948459:TG:T,KCNH2,VCV000983076,983076,NM_000238.4(KCNH2):c.2676del (p.Arg893fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,983076,983076,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.2676del (p.arg893fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951098:GA:G,KCNH2,VCV000979201,979201,NM_000238.4(KCNH2):c.1967del (p.Phe656fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,979201,979201,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1967del (p.phe656fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950221:A:G,KCNH2,VCV000977169,977169,NM_000238.4(KCNH2):c.2345T>C (p.Ile782Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,977169,977169,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|long qt syndrome 2 | nm_000238.4(kcnh2):c.2345t>c (p.ile782thr) | lqts | long qt syndrome|long qt syndrome 2 | long qt syndrome|long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951484:C:A,KCNH2,VCV000977166,977166,NM_000238.4(KCNH2):c.1909G>T (p.Glu637Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,977166,977166,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1909g>t (p.glu637ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150952753:C:T,KCNH2,VCV000972695,972695,NM_000238.4(KCNH2):c.1229G>A (p.Trp410Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,972695,972695,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1229g>a (p.trp410ter) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974872:C:A,KCNH2,VCV000972694,972694,NM_000238.4(KCNH2):c.146G>T (p.Cys49Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,972694,972694,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.146g>t (p.cys49phe) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150957416:G:A,KCNH2,VCV000968402,968402,NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,968402,968402,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|long qt syndrome 2|cardiovascular phenotype | nm_000238.4(kcnh2):c.1003c>t (p.gln335ter) | lqts | long qt syndrome|long qt syndrome 2|cardiovascular phenotype | long qt syndrome|long qt syndrome 2|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958161:AGC:A,KCNH2,VCV000960485,960485,NM_000238.4(KCNH2):c.812_813del (p.Arg271fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,960485,960485,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.812_813del (p.arg271fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951646:T:TGC,KCNH2,VCV000958799,958799,NM_000238.4(KCNH2):c.1745_1746dup (p.Ile583fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,958799,958799,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1745_1746dup (p.ile583fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150957391:AG:A,KCNH2,VCV000956361,956361,NM_000238.4(KCNH2):c.1027del (p.Leu343fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,956361,956361,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1027del (p.leu343fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958266:GAC:G,KCNH2,VCV000955885,955885,NM_000238.4(KCNH2):c.707_708del (p.Gly236fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,955885,955885,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.707_708del (p.gly236fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947800:C:CCCGG,KCNH2,VCV000949692,949692,NM_000238.4(KCNH2):c.2767_2770dup (p.Gly924fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,949692,949692,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2767_2770dup (p.gly924fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947367:A:ACGTCG,KCNH2,VCV000947666,947666,NM_000238.4(KCNH2):c.3108_3112dup (p.Val1038fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,947666,947666,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3108_3112dup (p.val1038fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947610:CA:C,KCNH2,VCV000943648,943648,NM_000238.4(KCNH2):c.2960del (p.Leu987fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,943648,943648,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2960del (p.leu987fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951705:C:T,KCNH2,VCV000943351,943351,NM_000238.4(KCNH2):c.1688G>A (p.Trp563Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,943351,943351,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1688g>a (p.trp563ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951097:CG:AA,KCNH2,VCV000943187,943187,NM_000238.4(KCNH2):c.1968_1969delinsTT (p.Gly657Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,943187,943187,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1968_1969delinstt (p.gly657cys) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951076:GGATGATGGCCGACACGTTGCCGAA:G,KCNH2,VCV000941189,941189,NM_000238.4(KCNH2):c.1966_1989del (p.Phe656_Ile663del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,941189,941189,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1966_1989del (p.phe656_ile663del) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150952784:TG:T,KCNH2,VCV000939419,939419,NM_000238.4(KCNH2):c.1197del (p.Ile400fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,939419,939419,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1197del (p.ile400fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948478:CTTGCG:C,KCNH2,VCV000937320,937320,NM_000238.4(KCNH2):c.2653_2657del (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,937320,937320,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2653_2657del (p.arg885fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950279:CAT:C,KCNH2,VCV000937182,937182,NM_000238.4(KCNH2):c.2285_2286del (p.His762fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,937182,937182,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2285_2286del (p.his762fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951117:AGGGCTGG:A,KCNH2,VCV000936138,936138,NM_000238.4(KCNH2):c.1946-4_1948del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,936138,936138,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1946-4_1948del | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958070:TG:T,KCNH2,VCV000934348,934348,NM_000238.4(KCNH2):c.904del (p.His302fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,934348,934348,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.904del (p.his302fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947373:CCCCGGGG:GCC,KCNH2,VCV000928528,928528,NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,928528,928528,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,unanchored_assertion_state,arrhythmia,False,True,False,-0.0,0.0,cardiac arrhythmia|cardiovascular phenotype | nm_000238.4(kcnh2):c.3100_3107delinsggc (p.pro1034fs) | arrhythmia | cardiac arrhythmia|cardiovascular phenotype | cardiac arrhythmia|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947517:G:C,KCNH2,VCV000871784,871784,NM_000238.4(KCNH2):c.2966-3C>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,871784,871784,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.2966-3c>g | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150974923:G:A,KCNH2,VCV000869439,869439,NM_000238.4(KCNH2):c.95C>T (p.Ala32Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,869439,869439,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.95c>t (p.ala32val) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951460:T:G,KCNH2,VCV000869431,869431,NM_000238.4(KCNH2):c.1933A>C (p.Met645Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,869431,869431,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1933a>c (p.met645leu) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974820:G:T,KCNH2,VCV000863419,863419,NM_000238.4(KCNH2):c.198C>A (p.Cys66Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,863419,863419,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.198c>a (p.cys66ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150957305:C:CAG,KCNH2,VCV000858246,858246,NM_000238.4(KCNH2):c.1112_1113dup (p.Glu372fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,858246,858246,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1112_1113dup (p.glu372fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974807:C:A,KCNH2,VCV000853484,853484,NM_000238.4(KCNH2):c.211G>T (p.Gly71Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,853484,853484,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.211g>t (p.gly71trp) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951814:CA:C,KCNH2,VCV000851169,851169,NM_000238.4(KCNH2):c.1578del (p.Ala527fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,851169,851169,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|cardiovascular phenotype | nm_000238.4(kcnh2):c.1578del (p.ala527fs) | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958467:G:GC,KCNH2,VCV000850821,850821,NM_000238.4(KCNH2):c.507dup (p.Leu170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,850821,850821,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.507dup (p.leu170fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948492:TGAAGCCACCC:T,KCNH2,VCV000846538,846538,NM_000238.4(KCNH2):c.2634_2643del (p.Gly879fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,846538,846538,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2634_2643del (p.gly879fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958194:AGGCGTCG:A,KCNH2,VCV000835590,835590,NM_000238.4(KCNH2):c.774_780del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,835590,835590,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.774_780del (p.asp259fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150957316:TG:T,KCNH2,VCV000818076,818076,NM_000238.4(KCNH2):c.1102del (p.His368fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,818076,818076,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1102del (p.his368fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947784:C:CTCCCCCCA,KCNH2,VCV000817961,817961,NM_000238.4(KCNH2):c.2779_2786dup (p.Glu929fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,817961,817961,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.2779_2786dup (p.glu929fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947343:TGGAG:T,KCNH2,VCV000817602,817602,NM_000238.4(KCNH2):c.3133_3136del (p.Leu1045fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,817602,817602,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.3133_3136del (p.leu1045fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150952564:G:A,KCNH2,VCV000811073,811073,NM_000238.4(KCNH2):c.1418C>T (p.Thr473Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,811073,811073,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.1418c>t (p.thr473ile) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150952423:A:G,KCNH2,VCV000695023,695023,NM_000238.4(KCNH2):c.1557+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,695023,695023,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1557+2t>c | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974767:TGCGCGATCTGCGCGGCAGC:T,KCNH2,VCV000692260,692260,NM_000238.4(KCNH2):c.232_250del (p.Ala78fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,692260,692260,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.232_250del (p.ala78fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948519:C:CG,KCNH2,VCV000692259,692259,NM_000238.4(KCNH2):c.2616dup (p.Gly873fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,692259,692259,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2|long qt syndrome | nm_000238.4(kcnh2):c.2616dup (p.gly873fs) | lqts | long qt syndrome 2|long qt syndrome | long qt syndrome 2|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947377:G:GGGGC,KCNH2,VCV000692257,692257,NM_000238.4(KCNH2):c.3099_3102dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,692257,692257,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.3099_3102dup (p.arg1035fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951082:TG:T,KCNH2,VCV000667408,667408,NM_000238.4(KCNH2):c.1983del (p.Ile662fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,667408,667408,Congenital long QT syndrome|Long QT syndrome,Congenital long QT syndrome|Long QT syndrome,Congenital long QT syndrome|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,congenital long qt syndrome|long qt syndrome | nm_000238.4(kcnh2):c.1983del (p.ile662fs) | lqts | congenital long qt syndrome|long qt syndrome | congenital long qt syndrome|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948446:T:GTGTCG,KCNH2,VCV000663923,663923,NM_000238.4(KCNH2):c.2690delinsCGACAC (p.Lys897fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,663923,663923,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2690delinscgacac (p.lys897fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974871:GC:TT,KCNH2,VCV000663471,663471,NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,663471,663471,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|cardiovascular phenotype | nm_000238.4(kcnh2):c.146_147delinsaa (p.cys49ter) | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947039:C:CA,KCNH2,VCV000660047,660047,NM_000238.4(KCNH2):c.3167dup (p.Ser1057fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,660047,660047,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3167dup (p.ser1057fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150946975:AGGCGGGC:A,KCNH2,VCV000657779,657779,NM_000238.4(KCNH2):c.3225_3231del (p.Pro1076fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,657779,657779,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|cardiovascular phenotype | nm_000238.4(kcnh2):c.3225_3231del (p.pro1076fs) | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150952602:GT:G,KCNH2,VCV000652241,652241,NM_000238.4(KCNH2):c.1379del (p.Asp460fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,652241,652241,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1379del (p.asp460fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951738:A:T,KCNH2,VCV000648088,648088,NM_000238.4(KCNH2):c.1655T>A (p.Leu552Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,648088,648088,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1655t>a (p.leu552ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974933:AC:A,KCNH2,VCV000645394,645394,NM_000238.4(KCNH2):c.84del (p.Lys28fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,645394,645394,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.84del (p.lys28fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974767:T:TGCGCGATCTGCGCGGCA,KCNH2,VCV000641517,641517,NM_000238.4(KCNH2):c.234_250dup (p.Gln84fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,641517,641517,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.234_250dup (p.gln84fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950308:GC:G,KCNH2,VCV000640022,640022,NM_000238.4(KCNH2):c.2257del (p.Ala753fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,640022,640022,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2257del (p.ala753fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947371:C:CG,KCNH2,VCV000637977,637977,NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,637977,637977,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2|long qt syndrome|cardiovascular phenotype | nm_000238.4(kcnh2):c.3108dup (p.asp1037fs) | lqts | long qt syndrome 2|long qt syndrome|cardiovascular phenotype | long qt syndrome 2|long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150952842:CA:C,KCNH2,VCV000632866,632866,NM_000238.4(KCNH2):c.1139del (p.Leu380fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,632866,632866,Long QT syndrome|Long QT syndrome 2||Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2||Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2||Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|long qt syndrome 2||cardiovascular phenotype | nm_000238.4(kcnh2):c.1139del (p.leu380fs) | lqts | long qt syndrome|long qt syndrome 2||cardiovascular phenotype | long qt syndrome|long qt syndrome 2||cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951063:G:T,KCNH2,VCV000620172,620172,NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,620172,620172,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,cardiac arrhythmia|long qt syndrome | nm_000238.4(kcnh2):c.2003c>a (p.ser668ter) | lqts|arrhythmia | cardiac arrhythmia|long qt syndrome | cardiac arrhythmia|long qt syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +7:150952634:G:A,KCNH2,VCV000620154,620154,NM_000238.4(KCNH2):c.1348C>T (p.Gln450Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,620154,620154,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1348c>t (p.gln450ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951520:C:G,KCNH2,VCV000618184,618184,NM_000238.4(KCNH2):c.1873G>C (p.Val625Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,618184,618184,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.1873g>c (p.val625leu) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947865:TG:T,KCNH2,VCV000598783,598783,NM_000238.4(KCNH2):c.2705del (p.Pro902fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,598783,598783,Long QT syndrome 2|Cardiovascular phenotype|Long QT syndrome,Long QT syndrome 2|Cardiovascular phenotype|Long QT syndrome,Long QT syndrome 2|Cardiovascular phenotype|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2|cardiovascular phenotype|long qt syndrome | nm_000238.4(kcnh2):c.2705del (p.pro902fs) | lqts | long qt syndrome 2|cardiovascular phenotype|long qt syndrome | long qt syndrome 2|cardiovascular phenotype|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958047:CGGCGCCCTCACCGGTGCT:C,KCNH2,VCV000582292,582292,NM_000238.4(KCNH2):c.910_916+11del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,582292,582292,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.910_916+11del | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951638:C:G,KCNH2,VCV000581669,581669,NM_000238.4(KCNH2):c.1755G>C (p.Trp585Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,581669,581669,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1755g>c (p.trp585cys) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150977836:ACT:A,KCNH2,VCV000579489,579489,NM_000238.4(KCNH2):c.76_76+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,579489,579489,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.76_76+1del | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951702:A:T,KCNH2,VCV000572344,572344,NM_000238.4(KCNH2):c.1691T>A (p.Leu564Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,572344,572344,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1691t>a (p.leu564gln) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947370:T:TCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGG,KCNH2,VCV000570715,570715,NM_000238.4(KCNH2):c.1129-831_3109dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,570715,570715,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1129-831_3109dup | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951499:GAGAGACGTTG:CTTCA,KCNH2,VCV000570494,570494,NM_000238.4(KCNH2):c.1884_1894delinsTGAAG (p.Asn629_Pro632delinsGluAla),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,570494,570494,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1884_1894delinstgaag (p.asn629_pro632delinsgluala) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947640:G:T,KCNH2,VCV000568003,568003,NM_000238.4(KCNH2):c.2931C>A (p.Cys977Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,568003,568003,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2931c>a (p.cys977ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150952848:CAG:C,KCNH2,VCV000565724,565724,NM_000238.4(KCNH2):c.1132_1133del (p.Leu378fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,565724,565724,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1132_1133del (p.leu378fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951545:G:C,KCNH2,VCV000560696,560696,NM_000238.4(KCNH2):c.1848C>G (p.Tyr616Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,560696,560696,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1848c>g (p.tyr616ter) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947391:GG:CGGGAGACCC,KCNH2,VCV000545950,545950,NM_000238.4(KCNH2):c.3088_3089delinsGGGTCTCCCG (p.Pro1030fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,545950,545950,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.3088_3089delinsgggtctcccg (p.pro1030fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150959573:TG:T,KCNH2,VCV000526969,526969,NM_000238.4(KCNH2):c.470del (p.Pro157fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,526969,526969,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.470del (p.pro157fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951704:C:T,KCNH2,VCV000526968,526968,NM_000238.4(KCNH2):c.1689G>A (p.Trp563Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,526968,526968,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1689g>a (p.trp563ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947832:CGCCCG:C,KCNH2,VCV000526939,526939,NM_000238.4(KCNH2):c.2734_2738del (p.Arg912fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526939,526939,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|cardiovascular phenotype | nm_000238.4(kcnh2):c.2734_2738del (p.arg912fs) | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150977847:C:CA,KCNH2,VCV000526932,526932,NM_000238.4(KCNH2):c.66dup (p.Glu23Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526932,526932,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.66dup (p.glu23ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958438:CGACGACTCCCGGGCCGTCAGCGCCA:C,KCNH2,VCV000526925,526925,NM_000238.4(KCNH2):c.512_536del (p.Leu171fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526925,526925,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.512_536del (p.leu171fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948478:C:CT,KCNH2,VCV000526908,526908,NM_000238.4(KCNH2):c.2657dup (p.Arg887fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526908,526908,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2657dup (p.arg887fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958423:G:GCCGCCCGA,KCNH2,VCV000524038,524038,NM_000238.4(KCNH2):c.544_551dup (p.Ala185fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,524038,524038,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.544_551dup (p.ala185fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947372:G:GCCCCGGGGCCGCC,KCNH2,VCV000523953,523953,NM_000238.4(KCNH2):c.3095_3107dup (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,523953,523953,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.3095_3107dup (p.asp1037fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150945390:CTG:C,KCNH2,VCV000523712,523712,NM_000238.4(KCNH2):c.3453_3454del (p.His1151fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,523712,523712,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.3453_3454del (p.his1151fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150958430:G:GACCGCACC,KCNH2,VCV000523697,523697,NM_000238.4(KCNH2):c.537_544dup (p.Ser182fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,523697,523697,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.537_544dup (p.ser182fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150974926:A:T,KCNH2,VCV000520423,520423,NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,520423,520423,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.92t>a (p.ile31asn) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951772:GA:G,KCNH2,VCV000519551,519551,NM_000238.4(KCNH2):c.1620del (p.Arg541fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519551,519551,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.1620del (p.arg541fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947014:G:A,KCNH2,VCV000519524,519524,NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519524,519524,Cardiovascular phenotype|Long QT syndrome|Short QT syndrome type 1;Long QT syndrome 2,Cardiovascular phenotype|Long QT syndrome|Short QT syndrome type 1;Long QT syndrome 2,Cardiovascular phenotype|Long QT syndrome|Short QT syndrome type 1;Long QT syndrome 2,variation_id,disease_model_collision,LQTS|SQTS,True,True,False,1.0,0.0,cardiovascular phenotype|long qt syndrome|short qt syndrome type 1;long qt syndrome 2 | nm_000238.4(kcnh2):c.3193c>t (p.gln1065ter) | lqts|sqts | cardiovascular phenotype|long qt syndrome|short qt syndrome type 1;long qt syndrome 2 | cardiovascular phenotype|long qt syndrome|short qt syndrome type 1;long qt syndrome 2 | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +7:150947798:CCCCCGGCCGG:C,KCNH2,VCV000519509,519509,NM_000238.4(KCNH2):c.2763_2772del (p.Arg922fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519509,519509,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_000238.4(kcnh2):c.2763_2772del (p.arg922fs) | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150974856:G:C,KCNH2,VCV000519501,519501,NM_000238.4(KCNH2):c.162C>G (p.Tyr54Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519501,519501,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.162c>g (p.tyr54ter) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150950329:GC:G,KCNH2,VCV000519473,519473,NM_000238.4(KCNH2):c.2236del (p.Ala746fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519473,519473,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.2236del (p.ala746fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150952691:A:G,KCNH2,VCV000519399,519399,NM_000238.4(KCNH2):c.1291T>C (p.Phe431Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519399,519399,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_000238.4(kcnh2):c.1291t>c (p.phe431leu) | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948449:TCCGTGCG:T,KCNH2,VCV000519378,519378,NM_000238.4(KCNH2):c.2680_2686del (p.Arg894fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519378,519378,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_000238.4(kcnh2):c.2680_2686del (p.arg894fs) | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947386:G:GACCC,KCNH2,VCV000519348,519348,NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519348,519348,Cardiovascular phenotype||Long QT syndrome,Cardiovascular phenotype||Long QT syndrome,Cardiovascular phenotype||Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype||long qt syndrome | nm_000238.4(kcnh2):c.3090_3093dup (p.arg1032fs) | lqts | cardiovascular phenotype||long qt syndrome | cardiovascular phenotype||long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951504:AC:A,KCNH2,VCV000519330,519330,NM_000238.4(KCNH2):c.1888del (p.Val630fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519330,519330,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.1888del (p.val630fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150958163:C:CT,KCNH2,VCV000519329,519329,NM_000238.4(KCNH2):c.811_812insA (p.Arg271fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519329,519329,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.811_812insa (p.arg271fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947377:GGGGCCGCCGACCC:G,KCNH2,VCV000519327,519327,NM_000238.4(KCNH2):c.3090_3102del (p.Arg1032fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519327,519327,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_000238.4(kcnh2):c.3090_3102del (p.arg1032fs) | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150958167:TCCG:ACT,KCNH2,VCV000519255,519255,NM_000238.4(KCNH2):c.805_808delinsAGT (p.Arg269fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519255,519255,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.805_808delinsagt (p.arg269fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150958064:C:CTGGCG,KCNH2,VCV000519237,519237,NM_000238.4(KCNH2):c.906_910dup (p.Ser304fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519237,519237,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_000238.4(kcnh2):c.906_910dup (p.ser304fs) | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948996:ACTTGCCAGGC:A,KCNH2,VCV000519234,519234,NM_000238.4(KCNH2):c.2442_2451del (p.Arg814fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519234,519234,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_000238.4(kcnh2):c.2442_2451del (p.arg814fs) | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150946876:C:T,KCNH2,VCV000519217,519217,NM_000238.4(KCNH2):c.3330+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519217,519217,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.3330+1g>a | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150974710:CC:AA,KCNH2,VCV000519204,519204,NM_000238.4(KCNH2):c.307_307+1delinsTT,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,splice_or_intronic,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519204,519204,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_000238.4(kcnh2):c.307_307+1delinstt | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951537:AAGGTGAAGT:A,KCNH2,VCV000503778,503778,NM_000238.4(KCNH2):c.1847_1855del (p.Tyr616_Thr618del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,503778,503778,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.1847_1855del (p.tyr616_thr618del) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150974766:CTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG:C,KCNH2,VCV000503735,503735,NM_000238.4(KCNH2):c.221_251del (p.Thr74fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,503735,503735,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.221_251del (p.thr74fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950159:ACCCCATAC:A,KCNH2,VCV000503674,503674,NM_000238.4(KCNH2):c.2398+1_2398+8del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,503674,503674,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.2398+1_2398+8del | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947373:CCCCGGGGCCGCCGA:C,KCNH2,VCV000503672,503672,NM_000238.4(KCNH2):c.3093_3106del (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,503672,503672,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3093_3106del (p.pro1034fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947367:A:ACGTCGCC,KCNH2,VCV000503659,503659,NM_000238.4(KCNH2):c.3106_3112dup (p.Val1038fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,503659,503659,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3106_3112dup (p.val1038fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947804:GC:G,KCNH2,VCV000495746,495746,NM_000238.4(KCNH2):c.2766del (p.Pro923fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,495746,495746,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000238.4(kcnh2):c.2766del (p.pro923fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150951686:G:C,KCNH2,VCV000489342,489342,NM_000238.4(KCNH2):c.1707C>G (p.Tyr569Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,489342,489342,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.1707c>g (p.tyr569ter) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150974856:G:T,KCNH2,VCV000488895,488895,NM_000238.4(KCNH2):c.162C>A (p.Tyr54Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,488895,488895,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.162c>a (p.tyr54ter) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150948510:C:A,KCNH2,VCV000488692,488692,NM_000238.4(KCNH2):c.2626G>T (p.Glu876Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,488692,488692,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2626g>t (p.glu876ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150959583:C:T,KCNH2,VCV000456935,456935,NM_000238.4(KCNH2):c.461G>A (p.Trp154Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456935,456935,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.461g>a (p.trp154ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947373:C:CCCCGGGG,KCNH2,VCV000456921,456921,NM_000238.4(KCNH2):c.3100_3106dup (p.Gly1036fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456921,456921,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3100_3106dup (p.gly1036fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947381:C:CCG,KCNH2,VCV000456919,456919,NM_000238.4(KCNH2):c.3097_3098dup (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456919,456919,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3097_3098dup (p.pro1034fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947383:G:GCCGAC,KCNH2,VCV000456918,456918,NM_000238.4(KCNH2):c.3092_3096dup (p.Arg1033fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456918,456918,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|cardiovascular phenotype | nm_000238.4(kcnh2):c.3092_3096dup (p.arg1033fs) | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950347:C:CA,KCNH2,VCV000456904,456904,NM_000238.4(KCNH2):c.2218dup (p.Cys740fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456904,456904,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2218dup (p.cys740fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950248:CCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGT:C,KCNH2,VCV000456903,456903,NM_000238.4(KCNH2):c.2180_2317del (p.Asp727_Ala772del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456903,456903,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2180_2317del (p.asp727_ala772del) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950421:CTG:TT,KCNH2,VCV000456902,456902,NM_000238.4(KCNH2):c.2146-3_2146-1delinsAA,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456902,456902,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2146-3_2146-1delinsaa | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951004:G:A,KCNH2,VCV000456901,456901,NM_000238.4(KCNH2):c.2062C>T (p.Gln688Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456901,456901,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2062c>t (p.gln688ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150952646:C:CA,KCNH2,VCV000456886,456886,NM_000238.4(KCNH2):c.1335dup (p.Gly446fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456886,456886,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1335dup (p.gly446fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150957296:TGA:T,KCNH2,VCV000456876,456876,NM_000238.4(KCNH2):c.1121_1122del (p.Val374fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456876,456876,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1121_1122del (p.val374fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947005:G:A,KCNH2,VCV000446417,446417,NM_000238.4(KCNH2):c.3202C>T (p.Gln1068Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,446417,446417,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.3202c>t (p.gln1068ter) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150952424:C:G,KCNH2,VCV000439845,439845,NM_000238.4(KCNH2):c.1557+1G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,439845,439845,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2|long qt syndrome|cardiovascular phenotype | nm_000238.4(kcnh2):c.1557+1g>c | lqts | long qt syndrome 2|long qt syndrome|cardiovascular phenotype | long qt syndrome 2|long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947389:C:CCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCA,KCNH2,VCV000431374,431374,NM_000238.4(KCNH2):c.2906_3089dup (p.Gly989_Ala990insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,431374,431374,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.2906_3089dup (p.gly989_ala990insileproglyaspglyargalaarggluaspargalatrpglnargtrpcysvaltyrproalahisproalaleuleuserglycysargargleuleuargservalglnhispheglnleuleuglyglyglnserglyproprovalproglyalaprosermetproargprohisproglnproproglnhisproproleuglnprovalglyserproter) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947631:GCTCTT:G,KCNH2,VCV000431036,431036,NM_000238.4(KCNH2):c.2935_2939del (p.Lys979fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,431036,431036,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.2935_2939del (p.lys979fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150948456:G:GCCTGC,KCNH2,VCV000430730,430730,NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,430730,430730,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2|long qt syndrome | nm_000238.4(kcnh2):c.2675_2679dup (p.arg894fs) | lqts | long qt syndrome 2|long qt syndrome | long qt syndrome 2|long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951114:A:C,KCNH2,VCV000427945,427945,NM_000238.4(KCNH2):c.1952T>G (p.Met651Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,427945,427945,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.1952t>g (p.met651arg) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951027:AC:A,KCNH2,VCV000427944,427944,NM_000238.4(KCNH2):c.2038del (p.Val680fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427944,427944,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 2 | nm_000238.4(kcnh2):c.2038del (p.val680fs) | lqts | long qt syndrome 2 | long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951096:C:A,KCNH2,VCV000427076,427076,NM_000238.4(KCNH2):c.1970G>T (p.Gly657Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427076,427076,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.1970g>t (p.gly657val) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150958306:TGCCA:G,KCNH2,VCV000426429,426429,NM_000238.4(KCNH2):c.665_669delinsC (p.Val222fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,426429,426429,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|cardiovascular phenotype | nm_000238.4(kcnh2):c.665_669delinsc (p.val222fs) | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951473:G:C,KCNH2,VCV000423753,423753,NM_000238.4(KCNH2):c.1920C>G (p.Phe640Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,423753,423753,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.1920c>g (p.phe640leu) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150950937:CCG:C,KCNH2,VCV000423696,423696,NM_000238.4(KCNH2):c.2127_2128del (p.Asn709fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,423696,423696,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.2127_2128del (p.asn709fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947419:T:TG,KCNH2,VCV000423015,423015,NM_000238.4(KCNH2):c.3060dup (p.Ser1021fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,423015,423015,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.3060dup (p.ser1021fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947683:GG:T,KCNH2,VCV000421672,421672,NM_000238.4(KCNH2):c.2887_2888delinsA (p.Pro963fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,421672,421672,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.2887_2888delinsa (p.pro963fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150950983:G:A,KCNH2,VCV000420923,420923,NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420923,420923,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|cardiovascular phenotype | nm_000238.4(kcnh2):c.2083c>t (p.gln695ter) | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947367:ACGTCGCCCCGGGGC:A,KCNH2,VCV000420585,420585,NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,420585,420585,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,long qt syndrome|cardiac arrhythmia | nm_000238.4(kcnh2):c.3099_3112del (p.pro1034fs) | lqts|arrhythmia | long qt syndrome|cardiac arrhythmia | long qt syndrome|cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +7:150959706:A:ACCACATC,KCNH2,VCV000420260,420260,NM_000238.4(KCNH2):c.331_337dup (p.Val113fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420260,420260,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.331_337dup (p.val113fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150951509:GC:G,KCNH2,VCV000419410,419410,NM_000238.4(KCNH2):c.1883del (p.Gly628fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,419410,419410,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.1883del (p.gly628fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150952468:GC:G,KCNH2,VCV000419379,419379,NM_000238.4(KCNH2):c.1513del (p.Ala505fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,419379,419379,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.1513del (p.ala505fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951667:G:A,KCNH2,VCV000419311,419311,NM_000238.4(KCNH2):c.1726C>T (p.Gln576Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,419311,419311,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.1726c>t (p.gln576ter) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150957370:GC:G,KCNH2,VCV000418919,418919,NM_000238.4(KCNH2):c.1048del (p.Ala350fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418919,418919,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.1048del (p.ala350fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947618:T:TG,KCNH2,VCV000418815,418815,NM_000238.4(KCNH2):c.2952dup (p.Asn985fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418815,418815,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.2952dup (p.asn985fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150948977:GC:G,KCNH2,VCV000418787,418787,NM_000238.4(KCNH2):c.2470del (p.Ala824fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418787,418787,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|cardiovascular phenotype | nm_000238.4(kcnh2):c.2470del (p.ala824fs) | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150959587:TGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCA:T,KCNH2,VCV000418670,418670,NM_000238.4(KCNH2):c.395_456del (p.Val132fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418670,418670,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.395_456del (p.val132fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150974854:G:T,KCNH2,VCV000418597,418597,NM_000238.4(KCNH2):c.164C>A (p.Ser55Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,418597,418597,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.164c>a (p.ser55ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947370:T:TCGCCCCGGGGC,KCNH2,VCV000405358,405358,NM_000238.4(KCNH2):c.3099_3109dup (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,405358,405358,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3099_3109dup (p.asp1037fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150959641:TC:T,KCNH2,VCV000405355,405355,NM_000238.4(KCNH2):c.402del (p.Lys135fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405355,405355,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.402del (p.lys135fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951065:G:GT,KCNH2,VCV000405345,405345,NM_000238.4(KCNH2):c.2000dup (p.Tyr667Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405345,405345,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2000dup (p.tyr667ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950200:A:ATC,KCNH2,VCV000405342,405342,NM_000238.4(KCNH2):c.2364_2365dup (p.Ile789fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405342,405342,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.2364_2365dup (p.ile789fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150951542:G:T,KCNH2,VCV000392690,392690,NM_000238.4(KCNH2):c.1851C>A (p.Phe617Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,392690,392690,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.1851c>a (p.phe617leu) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150951464:G:T,KCNH2,VCV000392341,392341,NM_000238.4(KCNH2):c.1929C>A (p.Cys643Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,392341,392341,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.1929c>a (p.cys643ter) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150951678:C:G,KCNH2,VCV000391858,391858,NM_000238.4(KCNH2):c.1715G>C (p.Gly572Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,391858,391858,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.1715g>c (p.gly572ala) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150948439:C:A,KCNH2,VCV000387850,387850,NM_000238.4(KCNH2):c.2692+5G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,387850,387850,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.2692+5g>t | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150959738:T:C,KCNH2,VCV000379451,379451,NM_000238.4(KCNH2):c.308-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,379451,379451,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.308-2a>g | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947453:G:C,KCNH2,VCV000379293,379293,NM_000238.4(KCNH2):c.3027C>G (p.Tyr1009Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,379293,379293,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3027c>g (p.tyr1009ter) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947006:T:TA,KCNH2,VCV000372942,372942,NM_000238.4(KCNH2):c.3200dup (p.Gln1068fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372942,372942,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.3200dup (p.gln1068fs) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150974897:C:G,KCNH2,VCV000372589,372589,NM_000238.4(KCNH2):c.121G>C (p.Val41Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372589,372589,,,,unmatched,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0, | nm_000238.4(kcnh2):c.121g>c (p.val41leu) | lqts | | | unmatched | false | -0.0,False,False,False,False,False,False,False,False,False,False +7:150947372:G:GCC,KCNH2,VCV000372571,372571,NM_000238.4(KCNH2):c.3106_3107dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372571,372571,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3106_3107dup (p.asp1037fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150947380:GC:G,KCNH2,VCV000372378,372378,NM_000238.4(KCNH2):c.3099del (p.Arg1035fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372378,372378,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000238.4(kcnh2):c.3099del (p.arg1035fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:150950167:C:A,KCNH2,VCV000372377,372377,NM_000238.4(KCNH2):c.2398+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372377,372377,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|long qt syndrome 2 | nm_000238.4(kcnh2):c.2398+1g>t | lqts | long qt syndrome|long qt syndrome 2 | long qt syndrome|long qt syndrome 2 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +3:38557241:T:C,SCN5A,VCV004814196,4814196,NM_000335.5(SCN5A):c.4286A>G (p.Asp1429Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4814196,4814196,SCN5A-related disorder,SCN5A-related disorder,SCN5A-related disorder,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,scn5a-related disorder | nm_000335.5(scn5a):c.4286a>g (p.asp1429gly) | brugada|lqts|sads|conduction | scn5a-related disorder | scn5a-related disorder | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38556563:G:A,SCN5A,VCV004814157,4814157,NM_000335.5(SCN5A):c.4312C>T (p.Gln1438Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4814157,4814157,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.4312c>t (p.gln1438ter) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38555679:GGGGCTTCTT:G,SCN5A,VCV004814013,4814013,NM_000335.5(SCN5A):c.4507_4515del (p.Lys1503_Pro1505del),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4814013,4814013,Branchiootic syndrome 1,Branchiootic syndrome 1,Branchiootic syndrome 1,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,branchiootic syndrome 1 | nm_000335.5(scn5a):c.4507_4515del (p.lys1503_pro1505del) | brugada|lqts|sads|conduction | branchiootic syndrome 1 | branchiootic syndrome 1 | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38603729:C:A,SCN5A,VCV004757059,4757059,NM_000335.5(SCN5A):c.1873G>T (p.Glu625Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4757059,4757059,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,disease_model_collision,arrhythmia,True,True,False,-0.0,0.0,cardiac arrhythmia | nm_000335.5(scn5a):c.1873g>t (p.glu625ter) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +3:38551453:GC:G,SCN5A,VCV004733790,4733790,NM_000335.5(SCN5A):c.4915del (p.Ala1639fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4733790,4733790,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4915del (p.ala1639fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38630345:TG:T,SCN5A,VCV004731428,4731428,NM_000335.5(SCN5A):c.357del (p.Ile120fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4731428,4731428,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.357del (p.ile120fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38630309:A:G,SCN5A,VCV004730817,4730817,NM_000335.5(SCN5A):c.392+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4730817,4730817,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.392+2t>c | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581324:GT:G,SCN5A,VCV004727300,4727300,NM_000335.5(SCN5A):c.2834del (p.Asp945fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4727300,4727300,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2834del (p.asp945fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38587440:GA:G,SCN5A,VCV004723344,4723344,NM_000335.5(SCN5A):c.2395del (p.Ser799fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4723344,4723344,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2395del (p.ser799fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38603889:AC:A,SCN5A,VCV004722126,4722126,NM_000335.5(SCN5A):c.1712del (p.Ser571fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4722126,4722126,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.1712del (p.ser571fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38550953:G:A,SCN5A,VCV004721301,4721301,NM_000335.5(SCN5A):c.5416C>T (p.Gln1806Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4721301,4721301,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5416c>t (p.gln1806ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38613801:GAC:G,SCN5A,VCV004720439,4720439,NM_000335.5(SCN5A):c.643_644del (p.Val215fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4720439,4720439,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.643_644del (p.val215fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581225:C:T,SCN5A,VCV004717480,4717480,NM_000335.5(SCN5A):c.2934G>A (p.Trp978Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4717480,4717480,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2934g>a (p.trp978ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38557283:GC:G,SCN5A,VCV004716661,4716661,NM_001099405.2(SCN5A):c.4246-706del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4716661,4716661,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_001099405.2(scn5a):c.4246-706del | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38597930:C:T,SCN5A,VCV004716468,4716468,NM_000335.5(SCN5A):c.2061G>A (p.Trp687Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4716468,4716468,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2061g>a (p.trp687ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38557236:TG:T,SCN5A,VCV004714862,4714862,NM_000335.5(SCN5A):c.4290del (p.Arg1431fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4714862,4714862,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4290del (p.arg1431fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38576755:GC:G,SCN5A,VCV004712144,4712144,NM_000335.5(SCN5A):c.3413del (p.Gly1138fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4712144,4712144,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3413del (p.gly1138fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38556493:A:T,SCN5A,VCV004681217,4681217,NM_000335.5(SCN5A):c.4382T>A (p.Leu1461Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4681217,4681217,Brugada syndrome 1|Cardiac arrhythmia,Brugada syndrome 1|Cardiac arrhythmia,Brugada syndrome 1|Cardiac arrhythmia,variation_id,disease_model_collision,Brugada|arrhythmia,True,True,False,1.0,0.0,brugada syndrome 1|cardiac arrhythmia | nm_000335.5(scn5a):c.4382t>a (p.leu1461gln) | brugada|arrhythmia | brugada syndrome 1|cardiac arrhythmia | brugada syndrome 1|cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +3:38562538:C:G,SCN5A,VCV004614942,4614942,NM_000335.5(SCN5A):c.3838-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4614942,4614942,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.3838-1g>c | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38608150:C:G,SCN5A,VCV004614940,4614940,NM_000335.5(SCN5A):c.998+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4614940,4614940,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.998+1g>c | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38599038:C:A,SCN5A,VCV004614936,4614936,NM_000335.5(SCN5A):c.1903G>T (p.Glu635Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4614936,4614936,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.1903g>t (p.glu635ter) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38613756:T:TA,SCN5A,VCV004537605,4537605,NM_000335.5(SCN5A):c.689dup (p.Ser231fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4537605,4537605,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.689dup (p.ser231fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38556576:A:C,SCN5A,VCV004536358,4536358,NM_000335.5(SCN5A):c.4299T>G (p.Tyr1433Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4536358,4536358,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4299t>g (p.tyr1433ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38606140:C:A,SCN5A,VCV004531893,4531893,NM_000335.5(SCN5A):c.1149G>T (p.Arg383Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531893,4531893,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.1149g>t (p.arg383ser) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38597749:TCTC:T,SCN5A,VCV004530664,4530664,NM_000335.5(SCN5A):c.2236GAG[1] (p.Glu747del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4530664,4530664,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.2236gag[1] (p.glu747del) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38585841:C:T,SCN5A,VCV004526988,4526988,NM_000335.5(SCN5A):c.2637G>A (p.Trp879Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4526988,4526988,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2637g>a (p.trp879ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38620842:C:A,SCN5A,VCV004160653,4160653,NM_000335.5(SCN5A):c.611+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4160653,4160653,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.611+1g>t | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38609896:CTG:C,SCN5A,VCV004160651,4160651,NM_000335.5(SCN5A):c.770_771del (p.Thr257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4160651,4160651,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.770_771del (p.thr257fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38585897:A:AG,SCN5A,VCV004084973,4084973,NM_000335.5(SCN5A):c.2580dup (p.Phe861fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4084973,4084973,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2580dup (p.phe861fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38550472:G:A,SCN5A,VCV004082128,4082128,NM_000335.5(SCN5A):c.5897C>T (p.Ser1966Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4082128,4082128,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.5897c>t (p.ser1966phe) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38606687:C:G,SCN5A,VCV004071999,4071999,NM_000335.5(SCN5A):c.1122G>C (p.Trp374Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4071999,4071999,Sick sinus syndrome 1,Sick sinus syndrome 1,Sick sinus syndrome 1,variation_id,disease_model_collision,conduction,True,True,False,-0.0,0.0,sick sinus syndrome 1 | nm_000335.5(scn5a):c.1122g>c (p.trp374cys) | conduction | sick sinus syndrome 1 | sick sinus syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +3:38560422:C:A,SCN5A,VCV003898691,3898691,NM_000335.5(SCN5A):c.3967G>T (p.Val1323Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3898691,3898691,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3967g>t (p.val1323phe) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38551118:AG:A,SCN5A,VCV003895188,3895188,NM_000335.5(SCN5A):c.5250del (p.Phe1751fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3895188,3895188,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.5250del (p.phe1751fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38550902:GC:G,SCN5A,VCV003894898,3894898,NM_000335.5(SCN5A):c.5466del (p.Glu1822fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894898,3894898,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.5466del (p.glu1822fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38606698:G:A,SCN5A,VCV003894008,3894008,NM_000335.5(SCN5A):c.1111C>T (p.Gln371Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3894008,3894008,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,disease_model_collision,arrhythmia,True,True,False,-0.0,0.0,cardiac arrhythmia | nm_000335.5(scn5a):c.1111c>t (p.gln371ter) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +3:38556500:A:AG,SCN5A,VCV003893711,3893711,NM_000335.5(SCN5A):c.4374dup (p.Phe1459fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3893711,3893711,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,disease_model_collision,arrhythmia,True,True,False,-0.0,0.0,cardiac arrhythmia | nm_000335.5(scn5a):c.4374dup (p.phe1459fs) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +3:38620885:CG:C,SCN5A,VCV003793221,3793221,NM_000335.5(SCN5A):c.568del (p.Arg190fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3793221,3793221,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.568del (p.arg190fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38576677:CT:A,SCN5A,VCV003793218,3793218,NM_000335.5(SCN5A):c.3491_3492delinsT (p.Glu1164fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3793218,3793218,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.3491_3492delinst (p.glu1164fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38606773:C:A,SCN5A,VCV003778738,3778738,NM_000335.5(SCN5A):c.1036G>T (p.Glu346Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3778738,3778738,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.1036g>t (p.glu346ter) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38585783:A:ACTCTC,SCN5A,VCV003773853,3773853,NM_000335.5(SCN5A):c.2690_2694dup (p.Trp899fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3773853,3773853,SCN5A-related disorder,SCN5A-related disorder,SCN5A-related disorder,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,scn5a-related disorder | nm_000335.5(scn5a):c.2690_2694dup (p.trp899fs) | brugada|lqts|sads|conduction | scn5a-related disorder | scn5a-related disorder | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38560424:AC:A,SCN5A,VCV003772281,3772281,NM_000335.5(SCN5A):c.3964del (p.Val1322fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3772281,3772281,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3964del (p.val1322fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581355:AG:A,SCN5A,VCV003766453,3766453,NM_000335.5(SCN5A):c.2803del (p.Leu935fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3766453,3766453,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2803del (p.leu935fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38604795:T:TGA,SCN5A,VCV003730868,3730868,NM_000335.5(SCN5A):c.1450_1451dup (p.Gly485fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3730868,3730868,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.1450_1451dup (p.gly485fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38580981:C:A,SCN5A,VCV003729291,3729291,NM_000335.5(SCN5A):c.3178G>T (p.Glu1060Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3729291,3729291,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3178g>t (p.glu1060ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38555654:A:G,SCN5A,VCV003727847,3727847,NM_000335.5(SCN5A):c.4539+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3727847,3727847,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4539+2t>c | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38551375:A:AG,SCN5A,VCV003723601,3723601,NM_000335.5(SCN5A):c.4993dup (p.Leu1665fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3723601,3723601,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4993dup (p.leu1665fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38613831:G:C,SCN5A,VCV003723452,3723452,NM_000335.5(SCN5A):c.615C>G (p.Tyr205Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3723452,3723452,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.615c>g (p.tyr205ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38620958:C:CG,SCN5A,VCV003722844,3722844,NM_000335.5(SCN5A):c.495dup (p.Ala166fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3722844,3722844,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.495dup (p.ala166fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38562511:G:GT,SCN5A,VCV003722003,3722003,NM_000335.5(SCN5A):c.3863dup (p.Asn1288fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3722003,3722003,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3863dup (p.asn1288fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38604029:TG:T,SCN5A,VCV003721680,3721680,NM_000335.5(SCN5A):c.1572del (p.Ser525fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3721680,3721680,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.1572del (p.ser525fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38556558:C:T,SCN5A,VCV003720482,3720482,NM_000335.5(SCN5A):c.4317G>A (p.Trp1439Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3720482,3720482,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4317g>a (p.trp1439ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38579495:G:A,SCN5A,VCV003699241,3699241,NM_001099404.2(SCN5A):c.3229C>T (p.Gln1077Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3699241,3699241,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_001099404.2(scn5a):c.3229c>t (p.gln1077ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38622468:CAT:C,SCN5A,VCV003668098,3668098,NM_000335.5(SCN5A):c.412_413del (p.Met138fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3668098,3668098,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.412_413del (p.met138fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38551233:C:T,SCN5A,VCV003663041,3663041,NM_000335.5(SCN5A):c.5136G>A (p.Trp1712Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3663041,3663041,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5136g>a (p.trp1712ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38562461:CG:C,SCN5A,VCV003662552,3662552,NM_000335.5(SCN5A):c.3913del (p.Arg1305fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3662552,3662552,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3913del (p.arg1305fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38576745:CT:C,SCN5A,VCV003661184,3661184,NM_000335.5(SCN5A):c.3423del (p.Asp1142fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3661184,3661184,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3423del (p.asp1142fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38550653:CCATGGCCGACACCTCTTCGTGCTTGCGCCGGAGTGTGGTGGTGATGGGCTCGTAGGAGATCTTGGATGGGTTGGCTGCCATGAACTTCTCCTCCATCTGGATCTTCAGGGCGTCCATCTCCCCAGACTCCCCCAGGACCCTTTTGGTGAAGGCAAAGAGAATGTCCATGCAATGGATGCGGTCCCCACTCACCATGGGCAGGTCCATGTTGATGAGGCTTATCTGGTTGGGCTTGGCGATACGGAGTGGCTCAGACAGGGCATCGGCAAAGTCAGACAGGACCGAATACTCAATAAACTGAGTGGCCTCTGGGTCAAATTTCTCCCAGATCTCATAGAACATATCGAAGTCGTCCTCACTCAGGGGCTCGGTGCTCTCCTCCGTGGCCACGCTGAAGTTCTCCAGGATGATGGCAATGTACATGTTGACCACGATGAGGAAGGAGATGATGATGTAGGTGGTGAAGAAGAGGATGCCCACGGCTGGGCTCCCGCAGTCCCCCCGAGAGCCATTGCTGTTGGGCAGAGTGGGGTCGCAGTAGGGCGGCCCAGTGTTGAGGATGGGG:C,SCN5A,VCV003660495,3660495,NM_000335.5(SCN5A):c.5151_5715del (p.Ser1717fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3660495,3660495,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5151_5715del (p.ser1717fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38550980:A:AT,SCN5A,VCV003653975,3653975,NM_000335.5(SCN5A):c.5388_5389insA (p.Trp1797fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3653975,3653975,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5388_5389insa (p.trp1797fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38633076:C:A,SCN5A,VCV003649069,3649069,NM_000335.5(SCN5A):c.232G>T (p.Glu78Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3649069,3649069,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.232g>t (p.glu78ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38550851:G:GC,SCN5A,VCV003645763,3645763,NM_000335.5(SCN5A):c.5517dup (p.Pro1840fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3645763,3645763,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5517dup (p.pro1840fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38587574:C:G,SCN5A,VCV003644710,3644710,NM_000335.5(SCN5A):c.2263-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3644710,3644710,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2263-1g>c | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38551094:A:AGGAGATGATGATGTAGGTGGTGAAGAAGAGGAGAT,SCN5A,VCV003642736,3642736,NM_000335.5(SCN5A):c.5274_5275insATCTCCTCTTCTTCACCACCTACATCATCATCTCC (p.Phe1759fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3642736,3642736,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5274_5275insatctcctcttcttcaccacctacatcatcatctcc (p.phe1759fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38633069:AG:A,SCN5A,VCV003639026,3639026,NM_000335.5(SCN5A):c.238del (p.Leu80fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3639026,3639026,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.238del (p.leu80fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38587399:C:G,SCN5A,VCV003633347,3633347,NM_000335.5(SCN5A):c.2436+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3633347,3633347,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2436+1g>c | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38556531:A:C,SCN5A,VCV003600631,3600631,NM_000335.5(SCN5A):c.4344T>G (p.Tyr1448Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3600631,3600631,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4344t>g (p.tyr1448ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38554311:A:C,SCN5A,VCV003544406,3544406,NM_000335.5(SCN5A):c.4778T>G (p.Phe1593Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3544406,3544406,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 3 | nm_000335.5(scn5a):c.4778t>g (p.phe1593cys) | lqts | long qt syndrome 3 | long qt syndrome 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38604025:CG:C,SCN5A,VCV003438263,3438263,NM_000335.5(SCN5A):c.1576del (p.Arg526fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3438263,3438263,Cardiovascular phenotype|Brugada syndrome 1,Cardiovascular phenotype|Brugada syndrome 1,Cardiovascular phenotype|Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,cardiovascular phenotype|brugada syndrome 1 | nm_000335.5(scn5a):c.1576del (p.arg526fs) | brugada | cardiovascular phenotype|brugada syndrome 1 | cardiovascular phenotype|brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38587400:C:CAGGCG,SCN5A,VCV003385944,3385944,NM_000335.5(SCN5A):c.2431_2435dup (p.Leu813fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3385944,3385944,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.2431_2435dup (p.leu813fs) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38560288:CTCTG:C,SCN5A,VCV003385918,3385918,NM_000335.5(SCN5A):c.4097_4100del (p.Thr1366fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3385918,3385918,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.4097_4100del (p.thr1366fs) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38566505:A:C,SCN5A,VCV003383167,3383167,NM_000335.5(SCN5A):c.3741T>G (p.Tyr1247Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3383167,3383167,8 conditions,8 conditions,8 conditions,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,8 conditions | nm_000335.5(scn5a):c.3741t>g (p.tyr1247ter) | brugada|lqts|sads|conduction | 8 conditions | 8 conditions | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581086:C:A,SCN5A,VCV003381870,3381870,NM_000335.5(SCN5A):c.3073G>T (p.Glu1025Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3381870,3381870,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.3073g>t (p.glu1025ter) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38606082:A:G,SCN5A,VCV003376929,3376929,NM_000335.5(SCN5A):c.1207T>C (p.Tyr403His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376929,3376929,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 3 | nm_000335.5(scn5a):c.1207t>c (p.tyr403his) | lqts | long qt syndrome 3 | long qt syndrome 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38603774:CT:C,SCN5A,VCV003367173,3367173,NM_000335.5(SCN5A):c.1827del (p.Glu610fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3367173,3367173,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.1827del (p.glu610fs) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38598975:GC:G,SCN5A,VCV003345326,3345326,NM_000335.5(SCN5A):c.1965del (p.Glu655fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3345326,3345326,SCN5A-related disorder,SCN5A-related disorder,SCN5A-related disorder,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,scn5a-related disorder | nm_000335.5(scn5a):c.1965del (p.glu655fs) | brugada|lqts|sads|conduction | scn5a-related disorder | scn5a-related disorder | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38598917:C:A,SCN5A,VCV003337556,3337556,NM_000335.5(SCN5A):c.2023+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3337556,3337556,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2023+1g>t | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38566583:C:G,SCN5A,VCV003337555,3337555,NM_000335.5(SCN5A):c.3664-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3337555,3337555,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3664-1g>c | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38557236:T:A,SCN5A,VCV003337551,3337551,NM_000335.5(SCN5A):c.4291A>T (p.Arg1431Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3337551,3337551,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4291a>t (p.arg1431trp) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38606784:A:AG,SCN5A,VCV003316598,3316598,NM_000335.5(SCN5A):c.1024dup (p.Leu342fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3316598,3316598,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.1024dup (p.leu342fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38576776:TG:T,SCN5A,VCV003316597,3316597,NM_000335.5(SCN5A):c.3392del (p.Pro1131fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3316597,3316597,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.3392del (p.pro1131fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38585883:G:C,SCN5A,VCV003316593,3316593,NM_000335.5(SCN5A):c.2595C>G (p.Tyr865Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3316593,3316593,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.2595c>g (p.tyr865ter) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38620967:TG:T,SCN5A,VCV003252620,3252620,NM_000335.5(SCN5A):c.486del (p.Glu161_Tyr162insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3252620,3252620,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.486del (p.glu161_tyr162inster) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38587409:GGA:G,SCN5A,VCV003252218,3252218,NM_000335.5(SCN5A):c.2425_2426del (p.Ser809fs),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3252218,3252218,8 conditions,8 conditions,8 conditions,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,8 conditions | nm_000335.5(scn5a):c.2425_2426del (p.ser809fs) | brugada|lqts|sads|conduction | 8 conditions | 8 conditions | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38575395:CCTTCCCTGGG:C,SCN5A,VCV003251141,3251141,NM_000335.5(SCN5A):c.3555_3564del (p.Pro1186fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3251141,3251141,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3555_3564del (p.pro1186fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38613752:CTG:C,SCN5A,VCV003251122,3251122,NM_000335.5(SCN5A):c.692_693del (p.Ser231fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3251122,3251122,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.692_693del (p.ser231fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38598963:G:A,SCN5A,VCV003248566,3248566,NM_000335.5(SCN5A):c.1978C>T (p.Gln660Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3248566,3248566,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.1978c>t (p.gln660ter) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38604050:TC:T,SCN5A,VCV003238947,3238947,NM_000335.5(SCN5A):c.1551del (p.Thr518fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3238947,3238947,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.1551del (p.thr518fs) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38585930:CGAT:C,SCN5A,VCV003236392,3236392,NM_000335.5(SCN5A):c.2542ATC[1] (p.Ile849del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3236392,3236392,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.2542atc[1] (p.ile849del) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38599037:T:TC,SCN5A,VCV003229479,3229479,NM_000335.5(SCN5A):c.1903dup (p.Glu635fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3229479,3229479,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.1903dup (p.glu635fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581204:CA:C,SCN5A,VCV003076028,3076028,NM_000335.5(SCN5A):c.2954del (p.Leu985fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3076028,3076028,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.2954del (p.leu985fs) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38581186:CTT:C,SCN5A,VCV003075937,3075937,NM_000335.5(SCN5A):c.2971_2972del (p.Lys991fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3075937,3075937,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.2971_2972del (p.lys991fs) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38550979:C:T,SCN5A,VCV003075757,3075757,NM_000335.5(SCN5A):c.5390G>A (p.Trp1797Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3075757,3075757,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.5390g>a (p.trp1797ter) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38556481:AT:A,SCN5A,VCV003075755,3075755,NM_000335.5(SCN5A):c.4393del (p.Ile1465fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,3075755,3075755,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.4393del (p.ile1465fs) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38580951:C:A,SCN5A,VCV003075752,3075752,NM_000335.5(SCN5A):c.3208G>T (p.Glu1070Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3075752,3075752,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.3208g>t (p.glu1070ter) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38579447:TG:T,SCN5A,VCV003074416,3074416,NM_000335.5(SCN5A):c.3273del (p.Arg1092fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3074416,3074416,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,congenital long qt syndrome | nm_000335.5(scn5a):c.3273del (p.arg1092fs) | lqts | congenital long qt syndrome | congenital long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38597824:T:TG,SCN5A,VCV003073663,3073663,NM_000335.5(SCN5A):c.2166dup (p.Ile723fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3073663,3073663,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,variation_id,disease_model_collision,Brugada|arrhythmia,True,True,False,1.0,0.0,brugada syndrome|cardiac arrhythmia | nm_000335.5(scn5a):c.2166dup (p.ile723fs) | brugada|arrhythmia | brugada syndrome|cardiac arrhythmia | brugada syndrome|cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +3:38603902:AG:A,SCN5A,VCV003073053,3073053,NM_000335.5(SCN5A):c.1699del (p.Leu567fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3073053,3073053,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.1699del (p.leu567fs) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38554469:AT:A,SCN5A,VCV003071701,3071701,NM_000335.5(SCN5A):c.4619del (p.Asn1540fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3071701,3071701,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.4619del (p.asn1540fs) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38560421:A:C,SCN5A,VCV003067128,3067128,NM_000335.5(SCN5A):c.3968T>G (p.Val1323Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3067128,3067128,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.3968t>g (p.val1323gly) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38556461:A:T,SCN5A,VCV003062283,3062283,NM_000335.5(SCN5A):c.4414T>A (p.Phe1472Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3062283,3062283,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,brugada syndrome 1;long qt syndrome 3 | nm_000335.5(scn5a):c.4414t>a (p.phe1472ile) | brugada|lqts | brugada syndrome 1;long qt syndrome 3 | brugada syndrome 1;long qt syndrome 3 | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +3:38603710:A:C,SCN5A,VCV003027437,3027437,NM_000335.5(SCN5A):c.1890+2T>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3027437,3027437,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 3 | nm_000335.5(scn5a):c.1890+2t>g | lqts | long qt syndrome 3 | long qt syndrome 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38606054:AC:A,SCN5A,VCV003024479,3024479,NM_000335.5(SCN5A):c.1234del (p.Val412fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3024479,3024479,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.1234del (p.val412fs) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38581031:TC:T,SCN5A,VCV003001404,3001404,NM_000335.5(SCN5A):c.3127del (p.Glu1043fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3001404,3001404,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3127del (p.glu1043fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38606764:CG:C,SCN5A,VCV002910170,2910170,NM_000335.5(SCN5A):c.1044del (p.Asp349fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2910170,2910170,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.1044del (p.asp349fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38630309:A:C,SCN5A,VCV002862415,2862415,NM_000335.5(SCN5A):c.392+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2862415,2862415,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.392+2t>g | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581134:A:AG,SCN5A,VCV002861983,2861983,NM_000335.5(SCN5A):c.3024dup (p.Tyr1009fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2861983,2861983,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3024dup (p.tyr1009fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38579367:C:T,SCN5A,VCV002850091,2850091,NM_000335.5(SCN5A):c.3354G>A (p.Trp1118Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2850091,2850091,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3354g>a (p.trp1118ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581152:TG:T,SCN5A,VCV002846167,2846167,NM_000335.5(SCN5A):c.3006del (p.Ser1003fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2846167,2846167,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome (shorter-than-normal qt interval) | nm_000335.5(scn5a):c.3006del (p.ser1003fs) | brugada | brugada syndrome (shorter-than-normal qt interval) | brugada syndrome (shorter-than-normal qt interval) | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38550951:C:CT,SCN5A,VCV002834047,2834047,NM_000335.5(SCN5A):c.5417dup (p.Phe1807fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2834047,2834047,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5417dup (p.phe1807fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38586042:C:G,SCN5A,VCV002831276,2831276,NM_000335.5(SCN5A):c.2437-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2831276,2831276,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.2437-1g>c | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38622423:AG:A,SCN5A,VCV002829409,2829409,NM_000335.5(SCN5A):c.458del (p.Pro153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2829409,2829409,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.458del (p.pro153fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38551299:CAT:C,SCN5A,VCV002820677,2820677,NM_000335.5(SCN5A):c.5068_5069del (p.Met1690fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2820677,2820677,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5068_5069del (p.met1690fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38566552:T:A,SCN5A,VCV002818735,2818735,NM_000335.5(SCN5A):c.3694A>T (p.Lys1232Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2818735,2818735,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3694a>t (p.lys1232ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38555657:A:AG,SCN5A,VCV002817837,2817837,NM_000335.5(SCN5A):c.4537dup (p.Leu1513fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2817837,2817837,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4537dup (p.leu1513fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38587499:CT:C,SCN5A,VCV002798618,2798618,NM_000335.5(SCN5A):c.2336del (p.Gln779fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2798618,2798618,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2336del (p.gln779fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38604785:C:A,SCN5A,VCV002774482,2774482,NM_000335.5(SCN5A):c.1462G>T (p.Glu488Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2774482,2774482,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,variation_id,disease_model_collision,Brugada|arrhythmia,True,True,False,1.0,0.0,cardiac arrhythmia|brugada syndrome | nm_000335.5(scn5a):c.1462g>t (p.glu488ter) | brugada|arrhythmia | cardiac arrhythmia|brugada syndrome | cardiac arrhythmia|brugada syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +3:38604761:TGGGG:CAGA,SCN5A,VCV002774480,2774480,NM_000335.5(SCN5A):c.1482_1486delinsTCTG (p.Pro495fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2774480,2774480,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,variation_id,disease_model_collision,Brugada|arrhythmia,True,True,False,1.0,0.0,cardiac arrhythmia|brugada syndrome | nm_000335.5(scn5a):c.1482_1486delinstctg (p.pro495fs) | brugada|arrhythmia | cardiac arrhythmia|brugada syndrome | cardiac arrhythmia|brugada syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +3:38581002:C:A,SCN5A,VCV002774462,2774462,NM_000335.5(SCN5A):c.3157G>T (p.Glu1053Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2774462,2774462,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,disease_model_collision,arrhythmia,True,True,False,-0.0,0.0,cardiac arrhythmia | nm_000335.5(scn5a):c.3157g>t (p.glu1053ter) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +3:38576660:C:A,SCN5A,VCV002774456,2774456,NM_000335.5(SCN5A):c.3508+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2774456,2774456,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,disease_model_collision,arrhythmia,True,True,False,-0.0,0.0,cardiac arrhythmia | nm_000335.5(scn5a):c.3508+1g>t | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +3:38556549:GT:G,SCN5A,VCV002774447,2774447,NM_000335.5(SCN5A):c.4325del (p.Asn1442fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2774447,2774447,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,variation_id,disease_model_collision,Brugada|arrhythmia,True,True,False,1.0,0.0,cardiac arrhythmia|brugada syndrome | nm_000335.5(scn5a):c.4325del (p.asn1442fs) | brugada|arrhythmia | cardiac arrhythmia|brugada syndrome | cardiac arrhythmia|brugada syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +3:38581271:AG:A,SCN5A,VCV002767841,2767841,NM_000335.5(SCN5A):c.2887del (p.Leu963fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2767841,2767841,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2887del (p.leu963fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38622407:AC:A,SCN5A,VCV002767035,2767035,NM_000335.5(SCN5A):c.474del (p.Lys158fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2767035,2767035,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.474del (p.lys158fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38585881:G:T,SCN5A,VCV002764562,2764562,NM_000335.5(SCN5A):c.2597C>A (p.Ser866Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2764562,2764562,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2597c>a (p.ser866ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38576660:C:G,SCN5A,VCV002764009,2764009,NM_000335.5(SCN5A):c.3508+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2764009,2764009,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3508+1g>c | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38606062:CAG:C,SCN5A,VCV002754673,2754673,NM_000335.5(SCN5A):c.1225_1226del (p.Leu409fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2754673,2754673,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.1225_1226del (p.leu409fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38554540:G:A,SCN5A,VCV002750658,2750658,NM_000335.5(SCN5A):c.4549C>T (p.Gln1517Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2750658,2750658,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4549c>t (p.gln1517ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38576675:TC:T,SCN5A,VCV002749678,2749678,NM_000335.5(SCN5A):c.3493del (p.Asp1165fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2749678,2749678,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.3493del (p.asp1165fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38566430:C:T,SCN5A,VCV002739542,2739542,NM_000335.5(SCN5A):c.3816G>A (p.Trp1272Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2739542,2739542,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3816g>a (p.trp1272ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581041:CG:C,SCN5A,VCV002733575,2733575,NM_000335.5(SCN5A):c.3117del (p.Asp1041fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2733575,2733575,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3117del (p.asp1041fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38609952:A:G,SCN5A,VCV002728351,2728351,NM_000335.5(SCN5A):c.716T>C (p.Ile239Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2728351,2728351,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.716t>c (p.ile239thr) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38606750:G:GGTGTAGCC,SCN5A,VCV002719420,2719420,NM_000335.5(SCN5A):c.1051_1058dup (p.Ser354fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2719420,2719420,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.1051_1058dup (p.ser354fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38551073:AC:A,SCN5A,VCV002713386,2713386,NM_000335.5(SCN5A):c.5295del (p.Met1765fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2713386,2713386,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5295del (p.met1765fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38557256:A:AT,SCN5A,VCV002708294,2708294,NM_000335.5(SCN5A):c.4270dup (p.Met1424fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2708294,2708294,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4270dup (p.met1424fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38566436:C:T,SCN5A,VCV002705691,2705691,NM_000335.5(SCN5A):c.3810G>A (p.Trp1270Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2705691,2705691,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3810g>a (p.trp1270ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38599043:GGCGT:G,SCN5A,VCV002587163,2587163,NM_000335.5(SCN5A):c.1894_1897del (p.Thr632fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2587163,2587163,Cardiovascular phenotype||Brugada syndrome,Cardiovascular phenotype||Brugada syndrome,Cardiovascular phenotype||Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,cardiovascular phenotype||brugada syndrome | nm_000335.5(scn5a):c.1894_1897del (p.thr632fs) | brugada | cardiovascular phenotype||brugada syndrome | cardiovascular phenotype||brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38585801:G:T,SCN5A,VCV002582527,2582527,NM_000335.5(SCN5A):c.2677C>A (p.Arg893Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2582527,2582527,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.2677c>a (p.arg893ser) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38620950:G:T,SCN5A,VCV002574114,2574114,NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2574114,2574114,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,brugada syndrome 1;long qt syndrome 3 | nm_000335.5(scn5a):c.504c>a (p.tyr168ter) | brugada|lqts | brugada syndrome 1;long qt syndrome 3 | brugada syndrome 1;long qt syndrome 3 | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +3:38576782:C:G,SCN5A,VCV002574113,2574113,NM_000335.5(SCN5A):c.3388-1G>C,Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2574113,2574113,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,brugada syndrome 1;long qt syndrome 3 | nm_000335.5(scn5a):c.3388-1g>c | brugada|lqts | brugada syndrome 1;long qt syndrome 3 | brugada syndrome 1;long qt syndrome 3 | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +3:38576710:GA:G,SCN5A,VCV002567176,2567176,NM_000335.5(SCN5A):c.3458del (p.Ile1153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2567176,2567176,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.3458del (p.ile1153fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38597909:G:T,SCN5A,VCV002567171,2567171,NM_000335.5(SCN5A):c.2082C>A (p.Tyr694Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2567171,2567171,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.2082c>a (p.tyr694ter) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38560146:C:A,SCN5A,VCV002567167,2567167,NM_000335.5(SCN5A):c.4242+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2567167,2567167,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.4242+1g>t | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38560208:C:T,SCN5A,VCV002506126,2506126,NM_000335.5(SCN5A):c.4181G>A (p.Trp1394Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2506126,2506126,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,disease_model_collision,arrhythmia,True,True,False,-0.0,0.0,cardiac arrhythmia | nm_000335.5(scn5a):c.4181g>a (p.trp1394ter) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +3:38620925:G:GA,SCN5A,VCV002505150,2505150,NM_000335.5(SCN5A):c.528dup (p.Leu177fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2505150,2505150,Primary dilated cardiomyopathy,Primary dilated cardiomyopathy,Primary dilated cardiomyopathy,variation_id,disease_model_collision,cardiomyopathy_overlap,True,True,False,-0.0,0.0,primary dilated cardiomyopathy | nm_000335.5(scn5a):c.528dup (p.leu177fs) | cardiomyopathy_overlap | primary dilated cardiomyopathy | primary dilated cardiomyopathy | variation_id | true | -0.0,False,False,False,False,False,False,True,False,False,True +3:38585891:T:A,SCN5A,VCV002498925,2498925,NM_000335.5(SCN5A):c.2587A>T (p.Lys863Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2498925,2498925,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2587a>t (p.lys863ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38609828:G:T,SCN5A,VCV002444515,2444515,NM_000335.5(SCN5A):c.840C>A (p.Cys280Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2444515,2444515,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.840c>a (p.cys280ter) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38613772:C:G,SCN5A,VCV002203341,2203341,NM_000335.5(SCN5A):c.674G>C (p.Arg225Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203341,2203341,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.674g>c (p.arg225pro) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38604830:C:A,SCN5A,VCV002203340,2203340,NM_000335.5(SCN5A):c.1417G>T (p.Glu473Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203340,2203340,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.1417g>t (p.glu473ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38585996:G:A,SCN5A,VCV002203339,2203339,NM_000335.5(SCN5A):c.2482C>T (p.Leu828Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2203339,2203339,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2482c>t (p.leu828phe) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38585936:TG:T,SCN5A,VCV002203338,2203338,NM_000335.5(SCN5A):c.2541del (p.Ile848fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203338,2203338,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2541del (p.ile848fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581358:AAG:A,SCN5A,VCV002203337,2203337,NM_000335.5(SCN5A):c.2799_2800del (p.Phe934fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203337,2203337,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.2799_2800del (p.phe934fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38554319:C:T,SCN5A,VCV002203335,2203335,NM_000335.5(SCN5A):c.4770G>A (p.Trp1590Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2203335,2203335,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4770g>a (p.trp1590ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38608215:C:T,SCN5A,VCV002126186,2126186,NM_000335.5(SCN5A):c.935-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2126186,2126186,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.935-1g>a | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38551089:GAGGA:G,SCN5A,VCV002124520,2124520,NM_000335.5(SCN5A):c.5276_5279del (p.Phe1759fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2124520,2124520,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5276_5279del (p.phe1759fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38556446:T:A,SCN5A,VCV002114785,2114785,NM_000335.5(SCN5A):c.4429A>T (p.Lys1477Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2114785,2114785,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4429a>t (p.lys1477ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38603949:CG:C,SCN5A,VCV002113775,2113775,NM_000335.5(SCN5A):c.1652del (p.Ala551fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2113775,2113775,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.1652del (p.ala551fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38562483:T:TG,SCN5A,VCV002107269,2107269,NM_000335.5(SCN5A):c.3891dup (p.Ile1298fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2107269,2107269,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3891dup (p.ile1298fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38598994:A:T,SCN5A,VCV002107170,2107170,NM_000335.5(SCN5A):c.1947T>A (p.Cys649Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2107170,2107170,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.1947t>a (p.cys649ter) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38551532:TC:T,SCN5A,VCV002106626,2106626,NM_000335.5(SCN5A):c.4836del (p.Lys1613fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2106626,2106626,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4836del (p.lys1613fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38575375:CT:C,SCN5A,VCV002100770,2100770,NM_000335.5(SCN5A):c.3584del (p.Lys1195fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2100770,2100770,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3584del (p.lys1195fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38551234:C:T,SCN5A,VCV002094285,2094285,NM_000335.5(SCN5A):c.5135G>A (p.Trp1712Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,2094285,2094285,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5135g>a (p.trp1712ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38562539:T:A,SCN5A,VCV002088946,2088946,NM_000335.5(SCN5A):c.3838-2A>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2088946,2088946,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3838-2a>t | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38587511:G:C,SCN5A,VCV002069900,2069900,NM_000335.5(SCN5A):c.2325C>G (p.Tyr775Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2069900,2069900,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2325c>g (p.tyr775ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38608216:T:C,SCN5A,VCV002057896,2057896,NM_000335.5(SCN5A):c.935-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2057896,2057896,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.935-2a>g | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38606042:TA:T,SCN5A,VCV002039747,2039747,NM_000335.5(SCN5A):c.1246del (p.Tyr416fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2039747,2039747,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.1246del (p.tyr416fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38620857:AC:A,SCN5A,VCV002036709,2036709,NM_000335.5(SCN5A):c.596del (p.Ser199fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2036709,2036709,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.596del (p.ser199fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38605976:ATGGCCTCC:A,SCN5A,VCV002031437,2031437,NM_000335.5(SCN5A):c.1305_1312del (p.Gln435fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2031437,2031437,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.1305_1312del (p.gln435fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38551074:C:G,SCN5A,VCV002027600,2027600,NM_000335.5(SCN5A):c.5295G>C (p.Met1765Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2027600,2027600,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5295g>c (p.met1765ile) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38633101:GC:G,SCN5A,VCV002027105,2027105,NM_000335.5(SCN5A):c.206del (p.Gly69fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2027105,2027105,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.206del (p.gly69fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38562414:C:A,SCN5A,VCV002026498,2026498,NM_000335.5(SCN5A):c.3960+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2026498,2026498,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3960+1g>t | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38585766:C:T,SCN5A,VCV002016715,2016715,NM_000335.5(SCN5A):c.2712G>A (p.Trp904Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2016715,2016715,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2712g>a (p.trp904ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38555656:C:CA,SCN5A,VCV002016359,2016359,NM_000335.5(SCN5A):c.4538dup (p.Asn1514fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2016359,2016359,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4538dup (p.asn1514fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38630430:CTGGGGACA:C,SCN5A,VCV002011754,2011754,NM_000335.5(SCN5A):c.274-9_274-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2011754,2011754,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.274-9_274-2del | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38580930:C:G,SCN5A,VCV001937049,1937049,NM_000335.5(SCN5A):c.3228+1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1937049,1937049,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3228+1g>c | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38633203:G:GC,SCN5A,VCV001803812,1803812,NM_000335.5(SCN5A):c.104dup (p.Ser36fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1803812,1803812,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.104dup (p.ser36fs) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38581161:G:A,SCN5A,VCV001798592,1798592,NM_000335.5(SCN5A):c.2998C>T (p.Gln1000Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1798592,1798592,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.2998c>t (p.gln1000ter) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581372:CT:C,SCN5A,VCV001795999,1795999,NM_000335.5(SCN5A):c.2788-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1795999,1795999,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.2788-2del | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38585957:TC:T,SCN5A,VCV001792542,1792542,NM_000335.5(SCN5A):c.2520del (p.Asn841fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1792542,1792542,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.2520del (p.asn841fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38597737:C:G,SCN5A,VCV001788496,1788496,NM_000335.5(SCN5A):c.2254G>C (p.Gly752Arg),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1788496,1788496,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.2254g>c (p.gly752arg) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38603923:G:C,SCN5A,VCV001777850,1777850,NM_000335.5(SCN5A):c.1679C>G (p.Ser560Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1777850,1777850,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.1679c>g (p.ser560ter) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38604785:C:CCT,SCN5A,VCV001773144,1773144,NM_000335.5(SCN5A):c.1460_1461dup (p.Glu488fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1773144,1773144,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.1460_1461dup (p.glu488fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38633214:G:A,SCN5A,VCV001767167,1767167,NM_000335.5(SCN5A):c.94C>T (p.Gln32Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1767167,1767167,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.94c>t (p.gln32ter) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38606058:CG:C,SCN5A,VCV001755450,1755450,NM_000335.5(SCN5A):c.1230del (p.Val411fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1755450,1755450,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.1230del (p.val411fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38633267:CG:C,SCN5A,VCV001737836,1737836,NM_000335.5(SCN5A):c.40del (p.Arg14fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1737836,1737836,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.40del (p.arg14fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38566552:TC:T,SCN5A,VCV001733997,1733997,NM_000335.5(SCN5A):c.3693del (p.Lys1232fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1733997,1733997,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.3693del (p.lys1232fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38579379:C:T,SCN5A,VCV001730458,1730458,NM_000335.5(SCN5A):c.3342G>A (p.Trp1114Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1730458,1730458,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.3342g>a (p.trp1114ter) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38579440:C:T,SCN5A,VCV001729777,1729777,NM_000335.5(SCN5A):c.3281G>A (p.Trp1094Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1729777,1729777,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.3281g>a (p.trp1094ter) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38633133:G:A,SCN5A,VCV001691761,1691761,NM_000335.5(SCN5A):c.175C>T (p.Gln59Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1691761,1691761,Brugada syndrome 1|Brugada syndrome,Brugada syndrome 1|Brugada syndrome,Brugada syndrome 1|Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1|brugada syndrome | nm_000335.5(scn5a):c.175c>t (p.gln59ter) | brugada | brugada syndrome 1|brugada syndrome | brugada syndrome 1|brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38575310:C:A,SCN5A,VCV001691220,1691220,NM_000335.5(SCN5A):c.3650G>T (p.Ser1217Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1691220,1691220,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3650g>t (p.ser1217ile) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581062:G:A,SCN5A,VCV001678156,1678156,NM_000335.5(SCN5A):c.3097C>T (p.Gln1033Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1678156,1678156,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3097c>t (p.gln1033ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38562426:C:A,SCN5A,VCV001678123,1678123,NM_000335.5(SCN5A):c.3949G>T (p.Glu1317Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1678123,1678123,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3949g>t (p.glu1317ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38585800:C:A,SCN5A,VCV001527869,1527869,NM_000335.5(SCN5A):c.2678G>T (p.Arg893Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1527869,1527869,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.2678g>t (p.arg893leu) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38606150:T:C,SCN5A,VCV001521971,1521971,NM_000335.5(SCN5A):c.1141-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1521971,1521971,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.1141-2a>g | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38575295:A:G,SCN5A,VCV001510225,1510225,NM_000335.5(SCN5A):c.3663+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1510225,1510225,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3663+2t>c | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38576782:C:T,SCN5A,VCV001502792,1502792,NM_000335.5(SCN5A):c.3388-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1502792,1502792,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3388-1g>a | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38606667:A:C,SCN5A,VCV001502060,1502060,NM_000335.5(SCN5A):c.1140+2T>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1502060,1502060,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.1140+2t>g | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38633040:G:A,SCN5A,VCV001460043,1460043,NM_000335.5(SCN5A):c.268C>T (p.Gln90Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1460043,1460043,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.268c>t (p.gln90ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38580984:G:A,SCN5A,VCV001458577,1458577,NM_000335.5(SCN5A):c.3175C>T (p.Gln1059Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1458577,1458577,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3175c>t (p.gln1059ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38575387:C:T,SCN5A,VCV001458575,1458575,NM_000335.5(SCN5A):c.3573G>A (p.Trp1191Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1458575,1458575,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3573g>a (p.trp1191ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38622396:TCACTCGACATA:T,SCN5A,VCV001455926,1455926,NM_000335.5(SCN5A):c.475_482+3del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1455926,1455926,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.475_482+3del | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581132:G:T,SCN5A,VCV001455755,1455755,NM_000335.5(SCN5A):c.3027C>A (p.Tyr1009Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1455755,1455755,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3027c>a (p.tyr1009ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38604046:GA:G,SCN5A,VCV001455694,1455694,NM_000335.5(SCN5A):c.1555del (p.Ser519fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1455694,1455694,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.1555del (p.ser519fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38597900:C:T,SCN5A,VCV001454071,1454071,NM_000335.5(SCN5A):c.2091G>A (p.Trp697Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1454071,1454071,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2091g>a (p.trp697ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38550922:AAGTC:A,SCN5A,VCV001452285,1452285,NM_000335.5(SCN5A):c.5443_5446del (p.Asp1815fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1452285,1452285,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5443_5446del (p.asp1815fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38556501:GA:G,SCN5A,VCV001451878,1451878,NM_000335.5(SCN5A):c.4373del (p.Phe1458fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1451878,1451878,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4373del (p.phe1458fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38555697:GCTT:G,SCN5A,VCV001449654,1449654,NM_000335.5(SCN5A):c.4492AAG[1] (p.Lys1499del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1449654,1449654,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4492aag[1] (p.lys1499del) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38556451:TGTTG:T,SCN5A,VCV001434817,1434817,NM_000335.5(SCN5A):c.4420_4423del (p.Gln1474fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1434817,1434817,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4420_4423del (p.gln1474fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38633091:G:A,SCN5A,VCV001408176,1408176,NM_000335.5(SCN5A):c.217C>T (p.Gln73Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1408176,1408176,Cardiovascular phenotype|Brugada syndrome (shorter-than-normal QT interval),Cardiovascular phenotype|Brugada syndrome (shorter-than-normal QT interval),Cardiovascular phenotype|Brugada syndrome (shorter-than-normal QT interval),variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,cardiovascular phenotype|brugada syndrome (shorter-than-normal qt interval) | nm_000335.5(scn5a):c.217c>t (p.gln73ter) | brugada | cardiovascular phenotype|brugada syndrome (shorter-than-normal qt interval) | cardiovascular phenotype|brugada syndrome (shorter-than-normal qt interval) | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38604794:CT:C,SCN5A,VCV001406093,1406093,NM_000335.5(SCN5A):c.1452del (p.Gly485fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1406093,1406093,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.1452del (p.gly485fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581116:CTG:C,SCN5A,VCV001392890,1392890,NM_000335.5(SCN5A):c.3041_3042del (p.Pro1014fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1392890,1392890,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3041_3042del (p.pro1014fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38585944:A:AC,SCN5A,VCV001386100,1386100,NM_000335.5(SCN5A):c.2533dup (p.Val845fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1386100,1386100,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.2533dup (p.val845fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38620876:C:T,SCN5A,VCV001374462,1374462,NM_000335.5(SCN5A):c.578G>A (p.Trp193Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1374462,1374462,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.578g>a (p.trp193ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38604012:GA:G,SCN5A,VCV001361908,1361908,NM_000335.5(SCN5A):c.1589del (p.Phe530fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1361908,1361908,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.1589del (p.phe530fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38606811:C:T,SCN5A,VCV001348900,1348900,NM_000335.5(SCN5A):c.999-1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1348900,1348900,Cardiovascular phenotype||Familial sick sinus syndrome,Cardiovascular phenotype||Familial sick sinus syndrome,Cardiovascular phenotype||Familial sick sinus syndrome,variation_id,disease_model_collision,conduction,True,True,False,-0.0,0.0,cardiovascular phenotype||familial sick sinus syndrome | nm_000335.5(scn5a):c.999-1g>a | conduction | cardiovascular phenotype||familial sick sinus syndrome | cardiovascular phenotype||familial sick sinus syndrome | variation_id | true | -0.0,False,False,False,False,True,False,False,False,False,True +3:38613742:C:G,SCN5A,VCV001345786,1345786,NM_000335.5(SCN5A):c.703+1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1345786,1345786,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.703+1g>c | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38554274:C:T,SCN5A,VCV001326912,1326912,NM_000335.5(SCN5A):c.4810+5G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1326912,1326912,Brugada syndrome|Brugada syndrome 1,Brugada syndrome|Brugada syndrome 1,Brugada syndrome|Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome|brugada syndrome 1 | nm_000335.5(scn5a):c.4810+5g>a | brugada | brugada syndrome|brugada syndrome 1 | brugada syndrome|brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38608217:G:C,SCN5A,VCV001326908,1326908,NM_000335.5(SCN5A):c.935-3C>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1326908,1326908,Brugada syndrome|Brugada syndrome 1,Brugada syndrome|Brugada syndrome 1,Brugada syndrome|Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome|brugada syndrome 1 | nm_000335.5(scn5a):c.935-3c>g | brugada | brugada syndrome|brugada syndrome 1 | brugada syndrome|brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38566425:T:C,SCN5A,VCV001326907,1326907,NM_000335.5(SCN5A):c.3821A>G (p.Asp1274Gly),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1326907,1326907,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.3821a>g (p.asp1274gly) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38556561:C:CT,SCN5A,VCV001299249,1299249,NM_000335.5(SCN5A):c.4313dup (p.Trp1439fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1299249,1299249,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.4313dup (p.trp1439fs) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38587515:TA:T,SCN5A,VCV001285130,1285130,NM_000335.5(SCN5A):c.2320del (p.Tyr774fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1285130,1285130,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2320del (p.tyr774fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38551459:C:A,SCN5A,VCV001188516,1188516,NM_000335.5(SCN5A):c.4910G>T (p.Arg1637Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1188516,1188516,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 3 | nm_000335.5(scn5a):c.4910g>t (p.arg1637leu) | lqts | long qt syndrome 3 | long qt syndrome 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38597761:C:A,SCN5A,VCV001187556,1187556,NM_000335.5(SCN5A):c.2230G>T (p.Glu744Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1187556,1187556,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2230g>t (p.glu744ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38566483:GC:G,SCN5A,VCV001185878,1185878,NM_000335.5(SCN5A):c.3762del (p.Leu1255fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1185878,1185878,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,disease_model_collision,arrhythmia,True,True,False,-0.0,0.0,cardiac arrhythmia|cardiovascular phenotype | nm_000335.5(scn5a):c.3762del (p.leu1255fs) | arrhythmia | cardiac arrhythmia|cardiovascular phenotype | cardiac arrhythmia|cardiovascular phenotype | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +3:38609855:G:GAGCT,SCN5A,VCV001184975,1184975,NM_000335.5(SCN5A):c.809_812dup (p.Phe272fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1184975,1184975,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.809_812dup (p.phe272fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581004:GC:G,SCN5A,VCV001076640,1076640,NM_000335.5(SCN5A):c.3154del (p.Ala1052fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1076640,1076640,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3154del (p.ala1052fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38576775:C:A,SCN5A,VCV001076635,1076635,NM_000335.5(SCN5A):c.3394G>T (p.Glu1132Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1076635,1076635,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3394g>t (p.glu1132ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38566487:CA:C,SCN5A,VCV001076515,1076515,NM_000335.5(SCN5A):c.3758del (p.Met1253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1076515,1076515,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3758del (p.met1253fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38609766:CA:C,SCN5A,VCV001076513,1076513,NM_000335.5(SCN5A):c.901del (p.Trp301fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1076513,1076513,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.901del (p.trp301fs) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38551532:T:A,SCN5A,VCV001075437,1075437,NM_000335.5(SCN5A):c.4837A>T (p.Lys1613Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,1075437,1075437,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4837a>t (p.lys1613ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38560303:GC:G,SCN5A,VCV001073809,1073809,NM_000335.5(SCN5A):c.4085del (p.Cys1362fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1073809,1073809,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.4085del (p.cys1362fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38556554:A:AT,SCN5A,VCV001073629,1073629,NM_000335.5(SCN5A):c.4320dup (p.Tyr1441fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1073629,1073629,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4320dup (p.tyr1441fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38585860:G:C,SCN5A,VCV001072446,1072446,NM_000335.5(SCN5A):c.2618C>G (p.Ser873Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1072446,1072446,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2618c>g (p.ser873ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38630368:T:TA,SCN5A,VCV001071777,1071777,NM_000335.5(SCN5A):c.334dup (p.Tyr112fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1071777,1071777,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.334dup (p.tyr112fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581107:T:A,SCN5A,VCV001069115,1069115,NM_000335.5(SCN5A):c.3052A>T (p.Lys1018Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1069115,1069115,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3052a>t (p.lys1018ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38557230:C:A,SCN5A,VCV001068181,1068181,NM_000335.5(SCN5A):c.4296+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1068181,1068181,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.4296+1g>t | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38597968:C:T,SCN5A,VCV001067586,1067586,NM_000335.5(SCN5A):c.2024-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1067586,1067586,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2024-1g>a | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38560428:C:A,SCN5A,VCV001066010,1066010,NM_000335.5(SCN5A):c.3961G>T (p.Val1321Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1066010,1066010,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3961g>t (p.val1321leu) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38557232:CCCCTGGAGTCCACAGCTGCATACATAATGT:C,SCN5A,VCV001012143,1012143,NM_000335.5(SCN5A):c.4265_4294del (p.Asp1422_Arg1431del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1012143,1012143,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4265_4294del (p.asp1422_arg1431del) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38633253:C:A,SCN5A,VCV000988404,988404,NM_000335.5(SCN5A):c.55G>T (p.Glu19Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,988404,988404,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.55g>t (p.glu19ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38554550:C:A,SCN5A,VCV000987436,987436,NM_000335.5(SCN5A):c.4540-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,987436,987436,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4540-1g>t | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38613835:C:T,SCN5A,VCV000984516,984516,NM_000335.5(SCN5A):c.612-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,984516,984516,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome (shorter-than-normal qt interval) | nm_000335.5(scn5a):c.612-1g>a | brugada | brugada syndrome (shorter-than-normal qt interval) | brugada syndrome (shorter-than-normal qt interval) | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38550925:TCAGA:T,SCN5A,VCV000984492,984492,NM_000335.5(SCN5A):c.5440_5443del (p.Ser1814fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,984492,984492,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,disease_model_collision,arrhythmia,True,True,False,-0.0,0.0,cardiac arrhythmia | nm_000335.5(scn5a):c.5440_5443del (p.ser1814fs) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +3:38585689:A:T,SCN5A,VCV000979203,979203,NM_000335.5(SCN5A):c.2787+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,979203,979203,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.2787+2t>a | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38587500:TG:T,SCN5A,VCV000979075,979075,NM_000335.5(SCN5A):c.2335del (p.Gln779fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,979075,979075,Long QT syndrome 3;Brugada syndrome 1,Long QT syndrome 3;Brugada syndrome 1,Long QT syndrome 3;Brugada syndrome 1,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,long qt syndrome 3;brugada syndrome 1 | nm_000335.5(scn5a):c.2335del (p.gln779fs) | brugada|lqts | long qt syndrome 3;brugada syndrome 1 | long qt syndrome 3;brugada syndrome 1 | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +3:38585996:G:C,SCN5A,VCV000978725,978725,NM_000335.5(SCN5A):c.2482C>G (p.Leu828Val),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,978725,978725,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 3 | nm_000335.5(scn5a):c.2482c>g (p.leu828val) | lqts | long qt syndrome 3 | long qt syndrome 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38606091:C:A,SCN5A,VCV000972696,972696,NM_000335.5(SCN5A):c.1198G>T (p.Gly400Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,972696,972696,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.1198g>t (p.gly400trp) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38598978:C:A,SCN5A,VCV000972691,972691,NM_000335.5(SCN5A):c.1963G>T (p.Glu655Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,972691,972691,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.1963g>t (p.glu655ter) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38585901:CT:C,SCN5A,VCV000970218,970218,NM_000335.5(SCN5A):c.2576del (p.Gln859fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,970218,970218,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2576del (p.gln859fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581298:CT:C,SCN5A,VCV000961103,961103,NM_000335.5(SCN5A):c.2860del (p.Arg954fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,961103,961103,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.2860del (p.arg954fs) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38633176:CT:C,SCN5A,VCV000956404,956404,NM_000335.5(SCN5A):c.131del (p.Glu44fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,956404,956404,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.131del (p.glu44fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38560264:G:GGT,SCN5A,VCV000952177,952177,NM_000335.5(SCN5A):c.4123_4124dup (p.Ile1376fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,952177,952177,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4123_4124dup (p.ile1376fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581117:T:TGGGGGTGGCGGGGAGTA,SCN5A,VCV000944678,944678,NM_000335.5(SCN5A):c.3025_3041dup (p.Glu1015fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,944678,944678,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3025_3041dup (p.glu1015fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38620865:C:G,SCN5A,VCV000942054,942054,NM_000335.5(SCN5A):c.589G>C (p.Asp197His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,942054,942054,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.589g>c (p.asp197his) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581343:A:G,SCN5A,VCV000940929,940929,NM_000335.5(SCN5A):c.2816T>C (p.Leu939Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,940929,940929,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2816t>c (p.leu939pro) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38613743:CT:C,SCN5A,VCV000937538,937538,NM_000335.5(SCN5A):c.702del (p.Gly235_Leu236insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,937538,937538,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.702del (p.gly235_leu236inster) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38606062:C:CTATG,SCN5A,VCV000936474,936474,NM_000335.5(SCN5A):c.1226_1227insCATA (p.Ala410fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,936474,936474,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.1226_1227inscata (p.ala410fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38633118:GC:G,SCN5A,VCV000928434,928434,NM_000335.5(SCN5A):c.189del (p.Lys63fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,928434,928434,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,disease_model_collision,arrhythmia,True,True,False,-0.0,0.0,cardiac arrhythmia | nm_000335.5(scn5a):c.189del (p.lys63fs) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +3:38551050:GT:G,SCN5A,VCV000927104,927104,NM_000335.5(SCN5A):c.5318del (p.Asn1773fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,927104,927104,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,disease_model_collision,arrhythmia,True,True,False,-0.0,0.0,cardiac arrhythmia | nm_000335.5(scn5a):c.5318del (p.asn1773fs) | arrhythmia | cardiac arrhythmia | cardiac arrhythmia | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +3:38562413:A:ACCCTCATG,SCN5A,VCV000927012,927012,NM_000335.5(SCN5A):c.3954_3960+1dup,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,splice_or_intronic,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,927012,927012,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,variation_id,disease_model_collision,Brugada|arrhythmia,True,True,False,1.0,0.0,cardiac arrhythmia|brugada syndrome | nm_000335.5(scn5a):c.3954_3960+1dup | brugada|arrhythmia | cardiac arrhythmia|brugada syndrome | cardiac arrhythmia|brugada syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +3:38562476:GA:G,SCN5A,VCV000917995,917995,NM_000335.5(SCN5A):c.3898del (p.Ser1300fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,917995,917995,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.3898del (p.ser1300fs) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38585735:AT:A,SCN5A,VCV000863801,863801,NM_000335.5(SCN5A):c.2742del (p.Leu914fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,863801,863801,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.2742del (p.leu914fs) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38562529:CAG:C,SCN5A,VCV000858385,858385,NM_000335.5(SCN5A):c.3844_3845del (p.Leu1282fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,858385,858385,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3844_3845del (p.leu1282fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38550877:TG:T,SCN5A,VCV000856890,856890,NM_000335.5(SCN5A):c.5491del (p.Gln1831fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,856890,856890,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5491del (p.gln1831fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38550990:GA:G,SCN5A,VCV000853346,853346,NM_000335.5(SCN5A):c.5378del (p.Phe1793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,853346,853346,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5378del (p.phe1793fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38620877:AT:A,SCN5A,VCV000851951,851951,NM_000335.5(SCN5A):c.576del (p.Trp193fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,851951,851951,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.576del (p.trp193fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38587575:T:C,SCN5A,VCV000851217,851217,NM_000335.5(SCN5A):c.2263-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,851217,851217,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,variation_id,disease_model_collision,Brugada|arrhythmia,True,True,False,1.0,0.0,brugada syndrome|cardiac arrhythmia | nm_000335.5(scn5a):c.2263-2a>g | brugada|arrhythmia | brugada syndrome|cardiac arrhythmia | brugada syndrome|cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +3:38622405:A:C,SCN5A,VCV000850294,850294,NM_000335.5(SCN5A):c.477T>G (p.Tyr159Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,850294,850294,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.477t>g (p.tyr159ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38633190:G:A,SCN5A,VCV000848941,848941,NM_000335.5(SCN5A):c.118C>T (p.Gln40Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,848941,848941,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.118c>t (p.gln40ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38560209:AG:A,SCN5A,VCV000848007,848007,NM_000335.5(SCN5A):c.4179del (p.Trp1394fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,848007,848007,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.4179del (p.trp1394fs) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38575452:C:T,SCN5A,VCV000847226,847226,NM_000335.5(SCN5A):c.3509-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,847226,847226,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3509-1g>a | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581258:CT:C,SCN5A,VCV000845474,845474,NM_000335.5(SCN5A):c.2900del (p.Gln967fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,845474,845474,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2900del (p.gln967fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38606705:CA:C,SCN5A,VCV000844438,844438,NM_000335.5(SCN5A):c.1103del (p.Leu368fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,844438,844438,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.1103del (p.leu368fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38554381:A:G,SCN5A,VCV000830371,830371,NM_000335.5(SCN5A):c.4708T>C (p.Phe1570Leu),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,exact_match_without_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,830371,830371,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.4708t>c (p.phe1570leu) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38562436:CAG:C,SCN5A,VCV000817608,817608,NM_000335.5(SCN5A):c.3937_3938del (p.Leu1313fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,817608,817608,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3937_3938del (p.leu1313fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38603945:C:A,SCN5A,VCV000811838,811838,NM_000335.5(SCN5A):c.1657G>T (p.Glu553Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,811838,811838,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.1657g>t (p.glu553ter) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38576715:G:A,SCN5A,VCV000801959,801959,NM_000335.5(SCN5A):c.3454C>T (p.Gln1152Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,801959,801959,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.3454c>t (p.gln1152ter) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38554372:C:A,SCN5A,VCV000691966,691966,NM_000335.5(SCN5A):c.4717G>T (p.Glu1573Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,691966,691966,Brugada syndrome 1|Cardiac arrhythmia|Brugada syndrome,Brugada syndrome 1|Cardiac arrhythmia|Brugada syndrome,Brugada syndrome 1|Cardiac arrhythmia|Brugada syndrome,variation_id,disease_model_collision,Brugada|arrhythmia,True,True,False,1.0,0.0,brugada syndrome 1|cardiac arrhythmia|brugada syndrome | nm_000335.5(scn5a):c.4717g>t (p.glu1573ter) | brugada|arrhythmia | brugada syndrome 1|cardiac arrhythmia|brugada syndrome | brugada syndrome 1|cardiac arrhythmia|brugada syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +3:38557229:A:AC,SCN5A,VCV000691705,691705,NM_000335.5(SCN5A):c.4296+1dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,691705,691705,Ventricular tachycardia,Ventricular tachycardia,Ventricular tachycardia,variation_id,disease_model_collision,arrhythmia,True,True,False,-0.0,0.0,ventricular tachycardia | nm_000335.5(scn5a):c.4296+1dup | arrhythmia | ventricular tachycardia | ventricular tachycardia | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +3:38551515:CG:C,SCN5A,VCV000689494,689494,NM_000335.5(SCN5A):c.4853del (p.Pro1618fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,689494,689494,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.4853del (p.pro1618fs) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38557286:T:C,SCN5A,VCV000667016,667016,NM_000335.5(SCN5A):c.4243-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,667016,667016,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.4243-2a>g | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38575390:C:T,SCN5A,VCV000660776,660776,NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,660776,660776,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.3570g>a (p.trp1190ter) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38587537:T:TG,SCN5A,VCV000654856,654856,NM_000335.5(SCN5A):c.2298dup (p.Lys767fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,654856,654856,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2298dup (p.lys767fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38606674:G:A,SCN5A,VCV000641344,641344,NM_000335.5(SCN5A):c.1135C>T (p.Gln379Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,641344,641344,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.1135c>t (p.gln379ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38555735:G:T,SCN5A,VCV000637991,637991,NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,637991,637991,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 3 | nm_000335.5(scn5a):c.4460c>a (p.thr1487lys) | lqts | long qt syndrome 3 | long qt syndrome 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38606743:C:A,SCN5A,VCV000637989,637989,NM_000335.5(SCN5A):c.1066G>T (p.Asp356Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,637989,637989,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.1066g>t (p.asp356tyr) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38581213:A:T,SCN5A,VCV000633410,633410,NM_000335.5(SCN5A):c.2946T>A (p.Cys982Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,633410,633410,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome (shorter-than-normal qt interval) | nm_000335.5(scn5a):c.2946t>a (p.cys982ter) | brugada | brugada syndrome (shorter-than-normal qt interval) | brugada syndrome (shorter-than-normal qt interval) | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38566565:G:C,SCN5A,VCV000632980,632980,NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,632980,632980,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome (shorter-than-normal qt interval) | nm_000335.5(scn5a):c.3681c>g (p.tyr1227ter) | brugada | brugada syndrome (shorter-than-normal qt interval) | brugada syndrome (shorter-than-normal qt interval) | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38556566:G:A,SCN5A,VCV000598785,598785,NM_000335.5(SCN5A):c.4309C>T (p.Pro1437Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,598785,598785,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.4309c>t (p.pro1437ser) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38622447:G:T,SCN5A,VCV000598784,598784,NM_000335.5(SCN5A):c.435C>A (p.Cys145Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,598784,598784,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.435c>a (p.cys145ter) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38550986:C:A,SCN5A,VCV000583354,583354,NM_000335.5(SCN5A):c.5383G>T (p.Glu1795Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,583354,583354,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5383g>t (p.glu1795ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38554434:CT:C,SCN5A,VCV000582177,582177,NM_000335.5(SCN5A):c.4654del (p.Ser1552fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,582177,582177,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4654del (p.ser1552fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38555665:T:TGGG,SCN5A,VCV000581866,581866,NM_000335.5(SCN5A):c.4527_4529dup (p.Pro1510dup),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,581866,581866,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4527_4529dup (p.pro1510dup) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38550986:CAT:C,SCN5A,VCV000579734,579734,NM_000335.5(SCN5A):c.5381_5382del (p.Phe1793_Tyr1794insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,579734,579734,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.5381_5382del (p.phe1793_tyr1794inster) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38550773:C:A,SCN5A,VCV000572957,572957,NM_000335.5(SCN5A):c.5596G>T (p.Glu1866Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,572957,572957,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5596g>t (p.glu1866ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38551007:CCTCA:C,SCN5A,VCV000572252,572252,NM_000335.5(SCN5A):c.5358_5361del (p.Ser1786fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,572252,572252,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5358_5361del (p.ser1786fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38609920:G:C,SCN5A,VCV000572011,572011,NM_000335.5(SCN5A):c.748C>G (p.Leu250Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,572011,572011,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.748c>g (p.leu250val) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38551093:A:C,SCN5A,VCV000571408,571408,NM_000335.5(SCN5A):c.5276T>G (p.Phe1759Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,571408,571408,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5276t>g (p.phe1759cys) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38555727:G:A,SCN5A,VCV000560692,560692,NM_000335.5(SCN5A):c.4468C>T (p.Gln1490Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,560692,560692,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.4468c>t (p.gln1490ter) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38603988:AC:A,SCN5A,VCV000523568,523568,NM_000335.5(SCN5A):c.1613del (p.Gly538fs),Pathogenic/Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,523568,523568,Sick sinus syndrome 1|Cardiac arrhythmia,Sick sinus syndrome 1|Cardiac arrhythmia,Sick sinus syndrome 1|Cardiac arrhythmia,variation_id,disease_model_collision,arrhythmia|conduction,True,True,False,1.0,0.0,sick sinus syndrome 1|cardiac arrhythmia | nm_000335.5(scn5a):c.1613del (p.gly538fs) | arrhythmia|conduction | sick sinus syndrome 1|cardiac arrhythmia | sick sinus syndrome 1|cardiac arrhythmia | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +3:38581191:G:A,SCN5A,VCV000520461,520461,NM_000335.5(SCN5A):c.2968C>T (p.Gln990Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,520461,520461,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.2968c>t (p.gln990ter) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38566437:C:T,SCN5A,VCV000519554,519554,NM_000335.5(SCN5A):c.3809G>A (p.Trp1270Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519554,519554,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.3809g>a (p.trp1270ter) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38579461:GC:G,SCN5A,VCV000519464,519464,NM_000335.5(SCN5A):c.3259del (p.Ala1087fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519464,519464,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.3259del (p.ala1087fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38598917:C:T,SCN5A,VCV000519460,519460,NM_000335.5(SCN5A):c.2023+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519460,519460,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.2023+1g>a | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38556493:AG:A,SCN5A,VCV000519429,519429,NM_000335.5(SCN5A):c.4381del (p.Thr1460_Leu1461insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519429,519429,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.4381del (p.thr1460_leu1461inster) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38551074:C:T,SCN5A,VCV000519384,519384,NM_000335.5(SCN5A):c.5295G>A (p.Met1765Ile),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519384,519384,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.5295g>a (p.met1765ile) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38586012:C:T,SCN5A,VCV000505895,505895,NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,505895,505895,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.2466g>a (p.trp822ter) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38609966:T:C,SCN5A,VCV000505834,505834,NM_000335.5(SCN5A):c.704-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,505834,505834,Brugada syndrome||Cardiovascular phenotype,Brugada syndrome||Cardiovascular phenotype,Brugada syndrome||Cardiovascular phenotype,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome||cardiovascular phenotype | nm_000335.5(scn5a):c.704-2a>g | brugada | brugada syndrome||cardiovascular phenotype | brugada syndrome||cardiovascular phenotype | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38575452:C:G,SCN5A,VCV000496573,496573,NM_000335.5(SCN5A):c.3509-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,496573,496573,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 1|cardiovascular phenotype | nm_000335.5(scn5a):c.3509-1g>c | lqts | long qt syndrome 1|cardiovascular phenotype | long qt syndrome 1|cardiovascular phenotype | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38562501:AG:A,SCN5A,VCV000463332,463332,NM_000335.5(SCN5A):c.3873del (p.Phe1292fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463332,463332,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3873del (p.phe1292fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581077:AC:A,SCN5A,VCV000463318,463318,NM_000335.5(SCN5A):c.3081del (p.Phe1028fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,463318,463318,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3081del (p.phe1028fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38633104:A:T,SCN5A,VCV000463308,463308,NM_000335.5(SCN5A):c.204T>A (p.Tyr68Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,463308,463308,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.204t>a (p.tyr68ter) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38606688:C:T,SCN5A,VCV000463292,463292,NM_000335.5(SCN5A):c.1121G>A (p.Trp374Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463292,463292,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.1121g>a (p.trp374ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38550909:CAG:C,SCN5A,VCV000452184,452184,NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,452184,452184,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype | nm_000335.5(scn5a):c.5458_5459del (p.leu1820fs) | brugada|lqts|sads|conduction | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38622414:C:T,SCN5A,VCV000448976,448976,NM_000335.5(SCN5A):c.468G>A (p.Trp156Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,448976,448976,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome 1 | nm_000335.5(scn5a):c.468g>a (p.trp156ter) | brugada | brugada syndrome 1 | brugada syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38551076:T:A,SCN5A,VCV000446418,446418,NM_000335.5(SCN5A):c.5293A>T (p.Met1765Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,446418,446418,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 3 | nm_000335.5(scn5a):c.5293a>t (p.met1765leu) | lqts | long qt syndrome 3 | long qt syndrome 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38560392:TGGACG:T,SCN5A,VCV000432733,432733,NM_000335.5(SCN5A):c.3992_3996del (p.Pro1331fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,432733,432733,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3992_3996del (p.pro1331fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38622491:T:C,SCN5A,VCV000432148,432148,NM_000335.5(SCN5A):c.393-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,432148,432148,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.393-2a>g | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38560245:G:A,SCN5A,VCV000431948,431948,NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,431948,431948,Cardiovascular phenotype|Brugada syndrome,Cardiovascular phenotype|Brugada syndrome,Cardiovascular phenotype|Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,cardiovascular phenotype|brugada syndrome | nm_000335.5(scn5a):c.4144c>t (p.gln1382ter) | brugada | cardiovascular phenotype|brugada syndrome | cardiovascular phenotype|brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38633204:CCG:C,SCN5A,VCV000429979,429979,NM_000335.5(SCN5A):c.102_103del (p.Gly35fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,429979,429979,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.102_103del (p.gly35fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38551289:G:A,SCN5A,VCV000426612,426612,NM_000335.5(SCN5A):c.5080C>T (p.Gln1694Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,426612,426612,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5080c>t (p.gln1694ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38551181:TG:T,SCN5A,VCV000426254,426254,NM_000335.5(SCN5A):c.5187del (p.Thr1730fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,426254,426254,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5187del (p.thr1730fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38560197:TC:T,SCN5A,VCV000423108,423108,NM_000335.5(SCN5A):c.4191del (p.Val1399fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,423108,423108,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4191del (p.val1399fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38579476:GA:G,SCN5A,VCV000422443,422443,NM_000335.5(SCN5A):c.3244del (p.Ser1082fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,422443,422443,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3244del (p.ser1082fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38599020:G:A,SCN5A,VCV000421358,421358,NM_000335.5(SCN5A):c.1921C>T (p.Gln641Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,421358,421358,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.1921c>t (p.gln641ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38550838:C:CCACT,SCN5A,VCV000420342,420342,NM_000335.5(SCN5A):c.5527_5530dup (p.Gly1844fs),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420342,420342,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_000335.5(scn5a):c.5527_5530dup (p.gly1844fs) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38587501:G:GTTGGAAA,SCN5A,VCV000419109,419109,NM_000335.5(SCN5A):c.2334_2335insTTTCCAA (p.Gln779fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,419109,419109,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2334_2335instttccaa (p.gln779fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38550944:C:A,SCN5A,VCV000406440,406440,NM_000335.5(SCN5A):c.5425G>T (p.Glu1809Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,406440,406440,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5425g>t (p.glu1809ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38633203:GC:G,SCN5A,VCV000406435,406435,NM_000335.5(SCN5A):c.104del (p.Gly35fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406435,406435,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.104del (p.gly35fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38579439:C:T,SCN5A,VCV000406434,406434,NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406434,406434,Brugada syndrome||Brugada syndrome 1|Cardiovascular phenotype,Brugada syndrome||Brugada syndrome 1|Cardiovascular phenotype,Brugada syndrome||Brugada syndrome 1|Cardiovascular phenotype,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome||brugada syndrome 1|cardiovascular phenotype | nm_000335.5(scn5a):c.3282g>a (p.trp1094ter) | brugada | brugada syndrome||brugada syndrome 1|cardiovascular phenotype | brugada syndrome||brugada syndrome 1|cardiovascular phenotype | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38609764:C:A,SCN5A,VCV000406427,406427,NM_000335.5(SCN5A):c.904G>T (p.Glu302Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406427,406427,Cardiovascular phenotype|SCN5A-related disorder|Brugada syndrome (shorter-than-normal QT interval),Cardiovascular phenotype|SCN5A-related disorder|Brugada syndrome (shorter-than-normal QT interval),Cardiovascular phenotype|SCN5A-related disorder|Brugada syndrome (shorter-than-normal QT interval),variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,cardiovascular phenotype|scn5a-related disorder|brugada syndrome (shorter-than-normal qt interval) | nm_000335.5(scn5a):c.904g>t (p.glu302ter) | brugada | cardiovascular phenotype|scn5a-related disorder|brugada syndrome (shorter-than-normal qt interval) | cardiovascular phenotype|scn5a-related disorder|brugada syndrome (shorter-than-normal qt interval) | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +3:38581226:C:T,SCN5A,VCV000406426,406426,NM_000335.5(SCN5A):c.2933G>A (p.Trp978Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,406426,406426,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2933g>a (p.trp978ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38581136:GGGGTGGCAATGCA:G,SCN5A,VCV000406419,406419,NM_000335.5(SCN5A):c.3010_3022del (p.Cys1004fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406419,406419,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.3010_3022del (p.cys1004fs) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38550782:C:A,SCN5A,VCV000406418,406418,NM_000335.5(SCN5A):c.5587G>T (p.Glu1863Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406418,406418,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.5587g>t (p.glu1863ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38550951:CTGAG:C,SCN5A,VCV000406415,406415,NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,406415,406415,Cardiovascular phenotype|8 conditions,Cardiovascular phenotype|8 conditions,Cardiovascular phenotype|8 conditions,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cardiovascular phenotype|8 conditions | nm_000335.5(scn5a):c.5414_5417del (p.thr1805fs) | brugada|lqts|sads|conduction | cardiovascular phenotype|8 conditions | cardiovascular phenotype|8 conditions | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38585842:C:T,SCN5A,VCV000406396,406396,NM_000335.5(SCN5A):c.2636G>A (p.Trp879Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,406396,406396,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.2636g>a (p.trp879ter) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38597804:GAGT:G,SCN5A,VCV000403732,403732,NM_000335.5(SCN5A):c.2184_2186del (p.Leu729del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,403732,403732,Familial isolated arrhythmogenic right ventricular dysplasia|Brugada syndrome 1,Familial isolated arrhythmogenic right ventricular dysplasia|Brugada syndrome 1,Familial isolated arrhythmogenic right ventricular dysplasia|Brugada syndrome 1,variation_id,disease_model_collision,Brugada|cardiomyopathy_overlap,True,True,False,1.0,0.0,familial isolated arrhythmogenic right ventricular dysplasia|brugada syndrome 1 | nm_000335.5(scn5a):c.2184_2186del (p.leu729del) | brugada|cardiomyopathy_overlap | familial isolated arrhythmogenic right ventricular dysplasia|brugada syndrome 1 | familial isolated arrhythmogenic right ventricular dysplasia|brugada syndrome 1 | variation_id | true | 1.0,False,False,False,False,True,False,True,True,False,True +3:38633034:C:T,SCN5A,VCV000392337,392337,NM_000335.5(SCN5A):c.273+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,392337,392337,Cervical cancer,Cervical cancer,Cervical cancer,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,cervical cancer | nm_000335.5(scn5a):c.273+1g>a | brugada|lqts|sads|conduction | cervical cancer | cervical cancer | variation_id | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38551459:C:G,SCN5A,VCV000389150,389150,NM_000335.5(SCN5A):c.4910G>C (p.Arg1637Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,389150,389150,,,,unmatched,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0, | nm_000335.5(scn5a):c.4910g>c (p.arg1637pro) | brugada|lqts|sads|conduction | | | unmatched | true | 2.0,False,False,True,False,False,False,False,True,True,True +3:38606034:G:A,SCN5A,VCV000374130,374130,NM_000335.5(SCN5A):c.1255C>T (p.Gln419Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,374130,374130,Syncope,Syncope,Syncope,variation_id,disease_model_collision,Brugada|LQTS|SADS|conduction,True,True,False,2.0,0.0,syncope | nm_000335.5(scn5a):c.1255c>t (p.gln419ter) | brugada|lqts|sads|conduction | syncope | syncope | variation_id | true | 2.0,True,False,True,False,False,False,False,True,True,True +21:34449542:GGCCAGGCCCGACATGTT:G,KCNE1,VCV004724223,4724223,NM_000219.6(KCNE1):c.76_92del (p.Asn26fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4724223,4724223,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000219.6(kcne1):c.76_92del (p.asn26fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +21:34449512:CT:C,KCNE1,VCV003601178,3601178,NM_000219.6(KCNE1):c.122del (p.Lys41fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3601178,3601178,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,jervell and lange-nielsen syndrome 1 | nm_000219.6(kcne1):c.122del (p.lys41fs) | lqts | jervell and lange-nielsen syndrome 1 | jervell and lange-nielsen syndrome 1 | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +21:34449404:TG:T,KCNE1,VCV001415503,1415503,NM_000219.6(KCNE1):c.230del (p.Pro77fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1415503,1415503,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000219.6(kcne1):c.230del (p.pro77fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +21:34449611:C:CGCTG,KCNE1,VCV001343372,1343372,NM_000219.6(KCNE1):c.20_23dup (p.Val9fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.4166666666666667,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1343372,1343372,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,cardiovascular phenotype | nm_000219.6(kcne1):c.20_23dup (p.val9fs) | lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +21:34449634:T:A,KCNE1,VCV001065921,1065921,NM_000219.6(KCNE1):c.1A>T (p.Met1Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.4166666666666667,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1065921,1065921,Long QT syndrome|Long QT syndrome 5,Long QT syndrome|Long QT syndrome 5,Long QT syndrome|Long QT syndrome 5,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|long qt syndrome 5 | nm_000219.6(kcne1):c.1a>t (p.met1leu) | lqts | long qt syndrome|long qt syndrome 5 | long qt syndrome|long qt syndrome 5 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +21:34449540:C:CG,KCNE1,VCV000812588,812588,NM_000219.6(KCNE1):c.94dup (p.Arg32fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.4166666666666667,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,812588,812588,Long QT syndrome;Hereditary hearing loss and deafness,Long QT syndrome;Hereditary hearing loss and deafness,Long QT syndrome;Hereditary hearing loss and deafness,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome;hereditary hearing loss and deafness | nm_000219.6(kcne1):c.94dup (p.arg32fs) | lqts | long qt syndrome;hereditary hearing loss and deafness | long qt syndrome;hereditary hearing loss and deafness | variation_id | false | -0.0,False,False,False,False,True,False,False,True,False,True +21:34449367:T:A,KCNE1,VCV000620398,620398,NM_000219.6(KCNE1):c.268A>T (p.Lys90Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.4166666666666667,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,620398,620398,Long QT syndrome 5,Long QT syndrome 5,Long QT syndrome 5,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 5 | nm_000219.6(kcne1):c.268a>t (p.lys90ter) | lqts | long qt syndrome 5 | long qt syndrome 5 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +21:34449429:TTGGA:T,KCNE1,VCV000527017,527017,NM_000219.6(KCNE1):c.202_205del (p.Ser68fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,527017,527017,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome | nm_000219.6(kcne1):c.202_205del (p.ser68fs) | lqts | long qt syndrome | long qt syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +21:34449406:GGT:TAGA,KCNE1,VCV000441101,441101,NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,,,,,,,,,,,False,False,False,False,False,0.4166666666666667,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,441101,441101,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome|cardiovascular phenotype | nm_000219.6(kcne1):c.227_229delinstcta (p.asp76fs) | lqts | long qt syndrome|cardiovascular phenotype | long qt syndrome|cardiovascular phenotype | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +1:237784024:C:A,RYR2,VCV004814200,4814200,NM_001035.3(RYR2):c.12312C>A (p.Asn4104Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4814200,4814200,RYR2-related disorder,RYR2-related disorder,RYR2-related disorder,variation_id,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0,ryr2-related disorder | nm_001035.3(ryr2):c.12312c>a (p.asn4104lys) | cpvt|sads | ryr2-related disorder | ryr2-related disorder | variation_id | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237808911:C:T,RYR2,VCV004800130,4800130,NM_001035.3(RYR2):c.14309C>T (p.Thr4770Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4800130,4800130,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14309c>t (p.thr4770ile) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784290:G:T,RYR2,VCV004800118,4800118,NM_001035.3(RYR2):c.12578G>T (p.Cys4193Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4800118,4800118,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12578g>t (p.cys4193phe) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237783729:C:T,RYR2,VCV004800115,4800115,NM_001035.3(RYR2):c.12017C>T (p.Ser4006Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4800115,4800115,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12017c>t (p.ser4006phe) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237707057:A:G,RYR2,VCV004800104,4800104,NM_001035.3(RYR2):c.9689A>G (p.Gln3230Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4800104,4800104,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.9689a>g (p.gln3230arg) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237633707:C:A,RYR2,VCV004800083,4800083,NM_001035.3(RYR2):c.6685C>A (p.Leu2229Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4800083,4800083,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.6685c>a (p.leu2229ile) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237778718:C:A,RYR2,VCV004697937,4697937,NM_001035.3(RYR2):c.11828C>A (p.Ala3943Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4697937,4697937,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.11828c>a (p.ala3943asp) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237778727:G:T,RYR2,VCV004614849,4614849,NM_001035.3(RYR2):c.11837G>T (p.Gly3946Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4614849,4614849,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001035.3(ryr2):c.11837g>t (p.gly3946val) | cpvt|sads | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237441455:CCGTGAGAATGGGATCTATACAACGTAAGGTAAGGTGATAGAAAAAAACATAATTTATAGAAGTAATTTTTTATGAATACACAAGCACAAG:C,RYR2,VCV004542511,4542511,NM_001035.3(RYR2):c.1143_1170+62del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4542511,4542511,,,,unmatched,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0, | nm_001035.3(ryr2):c.1143_1170+62del | cpvt|sads | | | unmatched | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237784242:T:G,RYR2,VCV004537880,4537880,NM_001035.3(RYR2):c.12530T>G (p.Val4177Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4537880,4537880,,,,unmatched,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0, | nm_001035.3(ryr2):c.12530t>g (p.val4177gly) | cpvt|sads | | | unmatched | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237783938:G:A,RYR2,VCV004531406,4531406,NM_001035.3(RYR2):c.12226G>A (p.Glu4076Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531406,4531406,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12226g>a (p.glu4076lys) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237441383:G:T,RYR2,VCV004291726,4291726,NM_001035.3(RYR2):c.1070G>T (p.Gly357Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4291726,4291726,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.1070g>t (p.gly357val) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237387326:C:T,RYR2,VCV004071994,4071994,NM_001035.3(RYR2):c.622C>T (p.Gln208Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4071994,4071994,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.622c>t (p.gln208ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237793907:G:T,RYR2,VCV003949071,3949071,NM_001035.3(RYR2):c.13823G>T (p.Arg4608Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3949071,3949071,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001035.3(ryr2):c.13823g>t (p.arg4608leu) | cpvt|sads | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237441275:TTTTTGAAATGTTTACTGACCTTTTTTTCCTCCTCTCCCCTTAGGA:ATTTTG,RYR2,VCV003901845,3901845,NM_001035.3(RYR2):c.1006-44_1007delinsATTTTG,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3901845,3901845,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.1006-44_1007delinsattttg | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237819130:G:T,RYR2,VCV003895065,3895065,NM_001035.3(RYR2):c.14528G>T (p.Arg4843Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895065,3895065,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001035.3(ryr2):c.14528g>t (p.arg4843leu) | cpvt|sads | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237801912:A:G,RYR2,VCV003894941,3894941,NM_001035.3(RYR2):c.14147A>G (p.Asp4716Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3894941,3894941,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001035.3(ryr2):c.14147a>g (p.asp4716gly) | cpvt|sads | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237648501:C:T,RYR2,VCV003894655,3894655,NM_001035.3(RYR2):c.7400C>T (p.Ala2467Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894655,3894655,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001035.3(ryr2):c.7400c>t (p.ala2467val) | cpvt|sads | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237377353:C:A,RYR2,VCV003776659,3776659,NM_001035.3(RYR2):c.494C>A (p.Ala165Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3776659,3776659,,,,unmatched,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0, | nm_001035.3(ryr2):c.494c>a (p.ala165asp) | cpvt|sads | | | unmatched | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237783971:T:C,RYR2,VCV003766443,3766443,NM_001035.3(RYR2):c.12259T>C (p.Phe4087Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,3766443,3766443,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12259t>c (p.phe4087leu) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237798092:G:A,RYR2,VCV003633845,3633845,NM_001035.3(RYR2):c.14012G>A (p.Gly4671Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3633845,3633845,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14012g>a (p.gly4671asp) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784143:G:T,RYR2,VCV003633837,3633837,NM_001035.3(RYR2):c.12431G>T (p.Arg4144Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3633837,3633837,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12431g>t (p.arg4144leu) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237639059:A:G,RYR2,VCV003633806,3633806,NM_001035.3(RYR2):c.6973A>G (p.Ile2325Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3633806,3633806,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.6973a>g (p.ile2325val) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784233:T:C,RYR2,VCV003572967,3572967,NM_001035.3(RYR2):c.12521T>C (p.Phe4174Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3572967,3572967,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12521t>c (p.phe4174ser) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237640950:C:T,RYR2,VCV003544417,3544417,NM_001035.3(RYR2):c.7169C>T (p.Thr2390Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3544417,3544417,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.7169c>t (p.thr2390ile) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237638457:A:G,RYR2,VCV003544409,3544409,NM_001035.3(RYR2):c.6893A>G (p.Tyr2298Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3544409,3544409,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.6893a>g (p.tyr2298cys) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237778684:C:G,RYR2,VCV003391121,3391121,NM_001035.3(RYR2):c.11794C>G (p.Gln3932Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3391121,3391121,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id,unanchored_assertion_state,arrhythmia,False,True,False,-0.0,0.0,ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | nm_001035.3(ryr2):c.11794c>g (p.gln3932glu) | arrhythmia | ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +1:237808910:A:G,RYR2,VCV003383138,3383138,NM_001035.3(RYR2):c.14308A>G (p.Thr4770Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3383138,3383138,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14308a>g (p.thr4770ala) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237727196:C:T,RYR2,VCV003382069,3382069,NM_001035.3(RYR2):c.10835C>T (p.Pro3612Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3382069,3382069,Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1;ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | nm_001035.3(ryr2):c.10835c>t (p.pro3612leu) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1;ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | catecholaminergic polymorphic ventricular tachycardia 1;ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237640956:A:T,RYR2,VCV003338338,3338338,NM_001035.3(RYR2):c.7175A>T (p.Tyr2392Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3338338,3338338,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia | nm_001035.3(ryr2):c.7175a>t (p.tyr2392phe) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia | catecholaminergic polymorphic ventricular tachycardia | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237806143:C:T,RYR2,VCV003337537,3337537,NM_001035.3(RYR2):c.14158C>T (p.Leu4720Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3337537,3337537,,,,unmatched,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0, | nm_001035.3(ryr2):c.14158c>t (p.leu4720phe) | cpvt|sads | | | unmatched | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237708886:GAAAC:G,RYR2,VCV003065287,3065287,NM_001035.3(RYR2):c.9931_9934del (p.Lys3311fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3065287,3065287,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id,unanchored_assertion_state,arrhythmia,False,True,False,-0.0,0.0,ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | nm_001035.3(ryr2):c.9931_9934del (p.lys3311fs) | arrhythmia | ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +1:237819075:G:A,RYR2,VCV002920176,2920176,NM_001035.3(RYR2):c.14473G>A (p.Gly4825Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2920176,2920176,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14473g>a (p.gly4825arg) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237638437:C:A,RYR2,VCV002883988,2883988,NM_001035.3(RYR2):c.6873C>A (p.Asn2291Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2883988,2883988,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.6873c>a (p.asn2291lys) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237643382:T:G,RYR2,VCV002865610,2865610,NM_001035.3(RYR2):c.7277T>G (p.Leu2426Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2865610,2865610,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.7277t>g (p.leu2426arg) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237638462:G:C,RYR2,VCV002840453,2840453,NM_001035.3(RYR2):c.6898G>C (p.Asp2300His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2840453,2840453,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.6898g>c (p.asp2300his) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237445429:A:G,RYR2,VCV002806184,2806184,NM_001035.3(RYR2):c.1199A>G (p.Asp400Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2806184,2806184,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.1199a>g (p.asp400gly) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237793882:T:A,RYR2,VCV002758112,2758112,NM_001035.3(RYR2):c.13798T>A (p.Phe4600Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,2758112,2758112,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.13798t>a (p.phe4600ile) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784223:C:G,RYR2,VCV002747580,2747580,NM_001035.3(RYR2):c.12511C>G (p.Gln4171Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2747580,2747580,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12511c>g (p.gln4171glu) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237648521:A:G,RYR2,VCV002734117,2734117,NM_001035.3(RYR2):c.7420A>G (p.Arg2474Gly),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2734117,2734117,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.7420a>g (p.arg2474gly) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237783984:C:G,RYR2,VCV002727021,2727021,NM_001035.3(RYR2):c.12272C>G (p.Ala4091Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2727021,2727021,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12272c>g (p.ala4091gly) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237832640:T:C,RYR2,VCV002719667,2719667,NM_001035.3(RYR2):c.14897T>C (p.Leu4966Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2719667,2719667,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14897t>c (p.leu4966pro) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237377426:A:C,RYR2,VCV002707246,2707246,NM_001035.3(RYR2):c.567A>C (p.Glu189Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2707246,2707246,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.567a>c (p.glu189asp) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784131:G:C,RYR2,VCV002587823,2587823,NM_001035.3(RYR2):c.12419G>C (p.Gly4140Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2587823,2587823,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001035.3(ryr2):c.12419g>c (p.gly4140ala) | cpvt|sads | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237638403:T:C,RYR2,VCV002575972,2575972,NM_001035.3(RYR2):c.6839T>C (p.Leu2280Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575972,2575972,,,,unmatched,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0, | nm_001035.3(ryr2):c.6839t>c (p.leu2280pro) | cpvt|sads | | | unmatched | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237806282:A:C,RYR2,VCV002500749,2500749,NM_001035.3(RYR2):c.14297A>C (p.Gln4766Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2500749,2500749,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14297a>c (p.gln4766pro) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237778695:G:C,RYR2,VCV002441802,2441802,NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2441802,2441802,Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id,disease_model_collision,CPVT|arrhythmia|cardiomyopathy_overlap,True,True,False,1.584962500721156,0.0,arrhythmogenic right ventricular dysplasia 2|catecholaminergic polymorphic ventricular tachycardia 1|ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | nm_001035.3(ryr2):c.11805g>c (p.leu3935phe) | cpvt|arrhythmia|cardiomyopathy_overlap | arrhythmogenic right ventricular dysplasia 2|catecholaminergic polymorphic ventricular tachycardia 1|ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | arrhythmogenic right ventricular dysplasia 2|catecholaminergic polymorphic ventricular tachycardia 1|ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | variation_id | true | 1.584962500721156,False,False,False,False,False,True,True,True,False,True +1:237784307:G:C,RYR2,VCV002435632,2435632,NM_001035.3(RYR2):c.12595G>C (p.Glu4199Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2435632,2435632,,,,unmatched,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0, | nm_001035.3(ryr2):c.12595g>c (p.glu4199gln) | cpvt|sads | | | unmatched | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237783728:T:A,RYR2,VCV002433112,2433112,NM_001035.3(RYR2):c.12016T>A (p.Ser4006Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2433112,2433112,,,,unmatched,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0, | nm_001035.3(ryr2):c.12016t>a (p.ser4006thr) | cpvt|sads | | | unmatched | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237377349:C:T,RYR2,VCV002203006,2203006,NM_001035.3(RYR2):c.490C>T (p.Pro164Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203006,2203006,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.490c>t (p.pro164ser) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784187:C:A,RYR2,VCV002169498,2169498,NM_001035.3(RYR2):c.12475C>A (p.Gln4159Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2169498,2169498,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12475c>a (p.gln4159lys) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237633624:G:A,RYR2,VCV002151921,2151921,NM_001035.3(RYR2):c.6602G>A (p.Cys2201Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2151921,2151921,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.6602g>a (p.cys2201tyr) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237808913:G:T,RYR2,VCV002125455,2125455,NM_001035.3(RYR2):c.14311G>T (p.Val4771Phe),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2125455,2125455,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | nm_001035.3(ryr2):c.14311g>t (p.val4771phe) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237783980:C:G,RYR2,VCV002120716,2120716,NM_001035.3(RYR2):c.12268C>G (p.Pro4090Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2120716,2120716,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12268c>g (p.pro4090ala) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237643361:T:C,RYR2,VCV002105630,2105630,NM_001035.3(RYR2):c.7256T>C (p.Ile2419Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2105630,2105630,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.7256t>c (p.ile2419thr) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237638480:G:T,RYR2,VCV002101383,2101383,NM_001035.3(RYR2):c.6916G>T (p.Val2306Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2101383,2101383,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.6916g>t (p.val2306phe) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237445429:A:C,RYR2,VCV002075220,2075220,NM_001035.3(RYR2):c.1199A>C (p.Asp400Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2075220,2075220,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.1199a>c (p.asp400ala) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237633654:A:C,RYR2,VCV002018903,2018903,NM_001035.3(RYR2):c.6632A>C (p.Gln2211Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2018903,2018903,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.6632a>c (p.gln2211pro) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784233:T:A,RYR2,VCV001997174,1997174,NM_001035.3(RYR2):c.12521T>A (p.Phe4174Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1997174,1997174,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12521t>a (p.phe4174tyr) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784034:C:T,RYR2,VCV001932217,1932217,NM_001035.3(RYR2):c.12322C>T (p.His4108Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1932217,1932217,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12322c>t (p.his4108tyr) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237445474:C:T,RYR2,VCV001805497,1805497,NM_001035.3(RYR2):c.1244C>T (p.Thr415Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1805497,1805497,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.1244c>t (p.thr415ile) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237270587:T:C,RYR2,VCV001805396,1805396,NM_001035.3(RYR2):c.139T>C (p.Cys47Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1805396,1805396,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.139t>c (p.cys47arg) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237832604:C:G,RYR2,VCV001773663,1773663,NM_001035.3(RYR2):c.14861C>G (p.Ala4954Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1773663,1773663,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001035.3(ryr2):c.14861c>g (p.ala4954gly) | cpvt|sads | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237377364:C:G,RYR2,VCV001745086,1745086,NM_001035.3(RYR2):c.505C>G (p.Arg169Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1745086,1745086,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001035.3(ryr2):c.505c>g (p.arg169gly) | cpvt|sads | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237723201:A:ATCCAGAGAAGACGGTAGAAAGAG,RYR2,VCV001710227,1710227,NM_001035.3(RYR2):c.10630_10652dup (p.Val3551_Leu3552insGlnArgArgArgTer),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1710227,1710227,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.10630_10652dup (p.val3551_leu3552insglnargargargter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237798100:A:G,RYR2,VCV001693182,1693182,NM_001035.3(RYR2):c.14020A>G (p.Lys4674Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1693182,1693182,Arrhythmogenic right ventricular cardiomyopathy,Arrhythmogenic right ventricular cardiomyopathy,Arrhythmogenic right ventricular cardiomyopathy,variation_id,unanchored_assertion_state,cardiomyopathy_overlap,False,True,False,-0.0,0.0,arrhythmogenic right ventricular cardiomyopathy | nm_001035.3(ryr2):c.14020a>g (p.lys4674glu) | cardiomyopathy_overlap | arrhythmogenic right ventricular cardiomyopathy | arrhythmogenic right ventricular cardiomyopathy | variation_id | false | -0.0,False,False,False,False,False,False,True,False,False,True +1:237830611:C:T,RYR2,VCV001527876,1527876,NM_001035.3(RYR2):c.14737C>T (p.His4913Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1527876,1527876,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14737c>t (p.his4913tyr) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237634949:A:T,RYR2,VCV001527868,1527868,NM_001035.3(RYR2):c.6749A>T (p.Asn2250Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1527868,1527868,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.6749a>t (p.asn2250ile) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237445402:C:A,RYR2,VCV001524904,1524904,NM_001035.3(RYR2):c.1172C>A (p.Ala391Asp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1524904,1524904,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | nm_001035.3(ryr2):c.1172c>a (p.ala391asp) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237633669:A:G,RYR2,VCV001499030,1499030,NM_001035.3(RYR2):c.6647A>G (p.Asp2216Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1499030,1499030,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.6647a>g (p.asp2216gly) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237757772:A:G,RYR2,VCV001496297,1496297,NM_001035.3(RYR2):c.11321A>G (p.Gln3774Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1496297,1496297,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.11321a>g (p.gln3774arg) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237806211:C:A,RYR2,VCV001480185,1480185,NM_001035.3(RYR2):c.14226C>A (p.His4742Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1480185,1480185,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14226c>a (p.his4742gln) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237830584:G:A,RYR2,VCV001479669,1479669,NM_001035.3(RYR2):c.14710G>A (p.Gly4904Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1479669,1479669,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14710g>a (p.gly4904ser) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237781643:G:C,RYR2,VCV001474443,1474443,NM_001035.3(RYR2):c.11959G>C (p.Glu3987Gln),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1474443,1474443,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.11959g>c (p.glu3987gln) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784315:G:T,RYR2,VCV001472640,1472640,NM_001035.3(RYR2):c.12603G>T (p.Gln4201His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1472640,1472640,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12603g>t (p.gln4201his) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237806237:A:T,RYR2,VCV001467901,1467901,NM_001035.3(RYR2):c.14252A>T (p.Lys4751Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1467901,1467901,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14252a>t (p.lys4751met) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237640994:G:A,RYR2,VCV001451617,1451617,NM_001035.3(RYR2):c.7213G>A (p.Glu2405Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1451617,1451617,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.7213g>a (p.glu2405lys) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237793882:T:C,RYR2,VCV001441921,1441921,NM_001035.3(RYR2):c.13798T>C (p.Phe4600Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1441921,1441921,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.13798t>c (p.phe4600leu) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784158:A:G,RYR2,VCV001441891,1441891,NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1441891,1441891,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | nm_001035.3(ryr2):c.12446a>g (p.tyr4149cys) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784176:C:A,RYR2,VCV001410932,1410932,NM_001035.3(RYR2):c.12464C>A (p.Ser4155Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1410932,1410932,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12464c>a (p.ser4155tyr) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237638464:C:G,RYR2,VCV001384586,1384586,NM_001035.3(RYR2):c.6900C>G (p.Asp2300Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1384586,1384586,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.6900c>g (p.asp2300glu) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237649944:T:G,RYR2,VCV001383749,1383749,NM_001035.3(RYR2):c.7580T>G (p.Leu2527Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1383749,1383749,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.7580t>g (p.leu2527trp) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237793920:T:G,RYR2,VCV001363823,1363823,NM_001035.3(RYR2):c.13836T>G (p.Phe4612Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1363823,1363823,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.13836t>g (p.phe4612leu) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237760996:A:G,RYR2,VCV001346560,1346560,NM_001035.3(RYR2):c.11444A>G (p.Glu3815Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1346560,1346560,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.11444a>g (p.glu3815gly) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237441339:GAGAAA:G,RYR2,VCV001342890,1342890,NM_001035.3(RYR2):c.1031_1035del (p.Lys344fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1342890,1342890,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.1031_1035del (p.lys344fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237469125:C:T,RYR2,VCV001330215,1330215,NM_001035.3(RYR2):c.1646C>T (p.Ala549Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1330215,1330215,Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia 1,Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia 1,Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia|cardiomyopathy_overlap,True,True,False,1.584962500721156,0.0,arrhythmogenic right ventricular dysplasia 2;catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.1646c>t (p.ala549val) | cpvt|arrhythmia|cardiomyopathy_overlap | arrhythmogenic right ventricular dysplasia 2;catecholaminergic polymorphic ventricular tachycardia 1 | arrhythmogenic right ventricular dysplasia 2;catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.584962500721156,False,False,False,False,False,True,True,True,False,True +1:237772037:G:C,RYR2,VCV001213111,1213111,NM_001035.3(RYR2):c.11583G>C (p.Gln3861His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1213111,1213111,,,,unmatched,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0, | nm_001035.3(ryr2):c.11583g>c (p.gln3861his) | cpvt|sads | | | unmatched | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237784299:C:T,RYR2,VCV001119951,1119951,NM_001035.3(RYR2):c.12587C>T (p.Thr4196Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1119951,1119951,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12587c>t (p.thr4196ile) | cpvt|arrhythmia | ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|catecholaminergic polymorphic ventricular tachycardia 1 | ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237783695:A:C,RYR2,VCV001119950,1119950,NM_001035.3(RYR2):c.11983A>C (p.Ile3995Leu),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1119950,1119950,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id,unanchored_assertion_state,arrhythmia,False,True,False,-0.0,0.0,ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | nm_001035.3(ryr2):c.11983a>c (p.ile3995leu) | arrhythmia | ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +1:237377373:G:A,RYR2,VCV001072928,1072928,NM_001035.3(RYR2):c.514G>A (p.Gly172Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1072928,1072928,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.514g>a (p.gly172arg) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237648522:G:A,RYR2,VCV001072597,1072597,NM_001035.3(RYR2):c.7421G>A (p.Arg2474Lys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1072597,1072597,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.7421g>a (p.arg2474lys) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237783981:C:T,RYR2,VCV001070571,1070571,NM_001035.3(RYR2):c.12269C>T (p.Pro4090Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1070571,1070571,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12269c>t (p.pro4090leu) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237639019:G:C,RYR2,VCV001069130,1069130,NM_001035.3(RYR2):c.6933G>C (p.Glu2311Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1069130,1069130,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.6933g>c (p.glu2311asp) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237806159:A:G,RYR2,VCV001067931,1067931,NM_001035.3(RYR2):c.14174A>G (p.Tyr4725Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1067931,1067931,Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia|catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14174a>g (p.tyr4725cys) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia|catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia|catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237377396:T:A,RYR2,VCV001067138,1067138,NM_001035.3(RYR2):c.537T>A (p.Asp179Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1067138,1067138,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.537t>a (p.asp179glu) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237806219:A:G,RYR2,VCV001066599,1066599,NM_001035.3(RYR2):c.14234A>G (p.Asp4745Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1066599,1066599,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14234a>g (p.asp4745gly) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237631490:C:A,RYR2,VCV001051501,1051501,NM_001035.3(RYR2):c.6504C>A (p.His2168Gln),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1051501,1051501,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.6504c>a (p.his2168gln) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237828441:T:TTCC,RYR2,VCV001013805,1013805,NM_001035.3(RYR2):c.14651_14652insTCC (p.Met4884delinsIlePro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1013805,1013805,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14651_14652instcc (p.met4884delinsilepro) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784055:C:T,RYR2,VCV001007679,1007679,NM_001035.3(RYR2):c.12343C>T (p.Leu4115Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1007679,1007679,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12343c>t (p.leu4115phe) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237674163:A:AG,RYR2,VCV000982634,982634,NM_001035.3(RYR2):c.8659dup (p.Glu2887fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,982634,982634,Arrhythmogenic right ventricular dysplasia 2,Arrhythmogenic right ventricular dysplasia 2,Arrhythmogenic right ventricular dysplasia 2,variation_id,unanchored_assertion_state,cardiomyopathy_overlap,False,True,False,-0.0,0.0,arrhythmogenic right ventricular dysplasia 2 | nm_001035.3(ryr2):c.8659dup (p.glu2887fs) | cardiomyopathy_overlap | arrhythmogenic right ventricular dysplasia 2 | arrhythmogenic right ventricular dysplasia 2 | variation_id | false | -0.0,False,False,False,False,False,False,True,False,False,True +1:237445474:C:A,RYR2,VCV000979205,979205,NM_001035.3(RYR2):c.1244C>A (p.Thr415Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,979205,979205,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.1244c>a (p.thr415lys) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784211:G:A,RYR2,VCV000979204,979204,NM_001035.3(RYR2):c.12499G>A (p.Glu4167Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,979204,979204,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12499g>a (p.glu4167lys) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237707216:T:A,RYR2,VCV000978366,978366,NM_001035.3(RYR2):c.9848T>A (p.Ile3283Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,978366,978366,Conduction disorder of the heart,Conduction disorder of the heart,Conduction disorder of the heart,variation_id,unanchored_assertion_state,conduction,False,True,False,-0.0,0.0,conduction disorder of the heart | nm_001035.3(ryr2):c.9848t>a (p.ile3283asn) | conduction | conduction disorder of the heart | conduction disorder of the heart | variation_id | false | -0.0,False,False,False,False,False,False,False,False,False,False +1:237633671:C:T,RYR2,VCV000957942,957942,NM_001035.3(RYR2):c.6649C>T (p.His2217Tyr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,957942,957942,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.6649c>t (p.his2217tyr) | cpvt|arrhythmia | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237633708:T:C,RYR2,VCV000954202,954202,NM_001035.3(RYR2):c.6686T>C (p.Leu2229Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,954202,954202,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.6686t>c (p.leu2229pro) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237492996:G:A,RYR2,VCV000947851,947851,NM_001035.3(RYR2):c.1870G>A (p.Ala624Thr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,947851,947851,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.1870g>a (p.ala624thr) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237388087:G:A,RYR2,VCV000947702,947702,NM_001035.3(RYR2):c.677G>A (p.Gly226Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,947702,947702,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.677g>a (p.gly226glu) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237759848:T:C,RYR2,VCV000940323,940323,NM_001035.3(RYR2):c.11398T>C (p.Cys3800Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,940323,940323,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.11398t>c (p.cys3800arg) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237759824:AGCCTGGCCG:A,RYR2,VCV000933804,933804,NM_001035.3(RYR2):c.11380_11388del (p.Ala3794_Leu3796del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,933804,933804,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.11380_11388del (p.ala3794_leu3796del) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237709543:G:GT,RYR2,VCV000931781,931781,NM_001035.3(RYR2):c.10209dup (p.Ile3404fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,931781,931781,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.10209dup (p.ile3404fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237648558:ATCTTCTTGAGGT:A,RYR2,VCV000915531,915531,NM_001035.3(RYR2):c.7459_7470del (p.Leu2487_Val2490del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,915531,915531,Cardiomyopathy,Cardiomyopathy,Cardiomyopathy,variation_id,unanchored_assertion_state,cardiomyopathy_overlap,False,True,False,-0.0,0.0,cardiomyopathy | nm_001035.3(ryr2):c.7459_7470del (p.leu2487_val2490del) | cardiomyopathy_overlap | cardiomyopathy | cardiomyopathy | variation_id | false | -0.0,False,False,False,False,False,False,True,False,False,True +1:237270563:G:GCAGAAGGATTTGGCAA,RYR2,VCV000870975,870975,NM_001035.3(RYR2):c.120_135dup (p.Leu46fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,870975,870975,,,,unmatched,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0, | nm_001035.3(ryr2):c.120_135dup (p.leu46fs) | cpvt|sads | | | unmatched | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237831526:G:T,RYR2,VCV000869428,869428,NM_001035.3(RYR2):c.14769G>T (p.Met4923Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,869428,869428,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14769g>t (p.met4923ile) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237648525:T:C,RYR2,VCV000861770,861770,NM_001035.3(RYR2):c.7424T>C (p.Val2475Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,861770,861770,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.7424t>c (p.val2475ala) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237639068:C:G,RYR2,VCV000840374,840374,NM_001035.3(RYR2):c.6982C>G (p.Pro2328Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,840374,840374,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.6982c>g (p.pro2328ala) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237798158:CCTT:C,RYR2,VCV000692253,692253,NM_001035.3(RYR2):c.14079_14081del (p.Leu4694del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,692253,692253,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14079_14081del (p.leu4694del) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784301:A:C,RYR2,VCV000665174,665174,NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,665174,665174,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12589a>c (p.ile4197leu) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784290:G:A,RYR2,VCV000656745,656745,NM_001035.3(RYR2):c.12578G>A (p.Cys4193Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,656745,656745,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12578g>a (p.cys4193tyr) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237423097:G:T,RYR2,VCV000654791,654791,NM_001035.3(RYR2):c.854G>T (p.Ser285Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,654791,654791,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.854g>t (p.ser285ile) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237778755:G:C,RYR2,VCV000654125,654125,NM_001035.3(RYR2):c.11865G>C (p.Gln3955His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,654125,654125,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.11865g>c (p.gln3955his) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237830557:A:C,RYR2,VCV000651491,651491,NM_001035.3(RYR2):c.14683A>C (p.Asn4895His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,651491,651491,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14683a>c (p.asn4895his) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237643361:T:G,RYR2,VCV000649923,649923,NM_001035.3(RYR2):c.7256T>G (p.Ile2419Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,649923,649923,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.7256t>g (p.ile2419ser) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237778727:G:A,RYR2,VCV000644207,644207,NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,644207,644207,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.11837g>a (p.gly3946asp) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237778678:G:C,RYR2,VCV000637985,637985,NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,637985,637985,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.11788g>c (p.gly3930arg) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784280:G:A,RYR2,VCV000580536,580536,NM_001035.3(RYR2):c.12568G>A (p.Val4190Met),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,580536,580536,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12568g>a (p.val4190met) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784189:G:T,RYR2,VCV000578246,578246,NM_001035.3(RYR2):c.12477G>T (p.Gln4159His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,578246,578246,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12477g>t (p.gln4159his) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237792319:T:C,RYR2,VCV000575682,575682,NM_001035.3(RYR2):c.13778T>C (p.Leu4593Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,575682,575682,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.13778t>c (p.leu4593ser) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237778753:C:G,RYR2,VCV000575059,575059,NM_001035.3(RYR2):c.11863C>G (p.Gln3955Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,575059,575059,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.11863c>g (p.gln3955glu) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237633668:G:C,RYR2,VCV000571532,571532,NM_001035.3(RYR2):c.6646G>C (p.Asp2216His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,571532,571532,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.6646g>c (p.asp2216his) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784251:G:T,RYR2,VCV000570194,570194,NM_001035.3(RYR2):c.12539G>T (p.Gly4180Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,570194,570194,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12539g>t (p.gly4180val) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237791480:G:C,RYR2,VCV000568135,568135,NM_001035.3(RYR2):c.13528G>C (p.Ala4510Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,568135,568135,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.13528g>c (p.ala4510pro) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237819188:A:G,RYR2,VCV000566084,566084,NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,566084,566084,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14586a>g (p.ile4862met) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784261:AGAG:A,RYR2,VCV000560709,560709,NM_001035.3(RYR2):c.12550_12552del (p.Glu4184del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,560709,560709,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.12550_12552del (p.glu4184del) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237628052:G:A,RYR2,VCV000532366,532366,NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,532366,532366,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.6412g>a (p.glu2138lys) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237819187:T:C,RYR2,VCV000532324,532324,NM_001035.3(RYR2):c.14585T>C (p.Ile4862Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,532324,532324,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14585t>c (p.ile4862thr) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237441320:A:G,RYR2,VCV000520467,520467,NM_001035.3(RYR2):c.1007A>G (p.Glu336Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,520467,520467,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001035.3(ryr2):c.1007a>g (p.glu336gly) | cpvt|sads | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237639110:G:A,RYR2,VCV000519356,519356,NM_001035.3(RYR2):c.7024G>A (p.Gly2342Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519356,519356,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001035.3(ryr2):c.7024g>a (p.gly2342arg) | cpvt|sads | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237639095:G:C,RYR2,VCV000463624,463624,NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463624,463624,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.7009g>c (p.gly2337arg) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237377426:A:T,RYR2,VCV000463608,463608,NM_001035.3(RYR2):c.567A>T (p.Glu189Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463608,463608,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.567a>t (p.glu189asp) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237377374:G:A,RYR2,VCV000463605,463605,NM_001035.3(RYR2):c.515G>A (p.Gly172Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463605,463605,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia | nm_001035.3(ryr2):c.515g>a (p.gly172glu) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia | catecholaminergic polymorphic ventricular tachycardia | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237819192:G:T,RYR2,VCV000463579,463579,NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463579,463579,Catecholaminergic polymorphic ventricular tachycardia 1|Squamous cell lung carcinoma,Catecholaminergic polymorphic ventricular tachycardia 1|Squamous cell lung carcinoma,Catecholaminergic polymorphic ventricular tachycardia 1|Squamous cell lung carcinoma,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1|squamous cell lung carcinoma | nm_001035.3(ryr2):c.14590g>t (p.gly4864cys) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1|squamous cell lung carcinoma | catecholaminergic polymorphic ventricular tachycardia 1|squamous cell lung carcinoma | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237806236:A:G,RYR2,VCV000463577,463577,NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463577,463577,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14251a>g (p.lys4751glu) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237445428:G:A,RYR2,VCV000463549,463549,NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463549,463549,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.1198g>a (p.asp400asn) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237808943:T:C,RYR2,VCV000452065,452065,NM_001035.3(RYR2):c.14341T>C (p.Tyr4781His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,452065,452065,,,,unmatched,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0, | nm_001035.3(ryr2):c.14341t>c (p.tyr4781his) | cpvt|sads | | | unmatched | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237639026:GAG:AAA,RYR2,VCV000450836,450836,NM_001035.3(RYR2):c.6940_6942delinsAAA (p.Glu2314Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,450836,450836,,,,unmatched,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0, | nm_001035.3(ryr2):c.6940_6942delinsaaa (p.glu2314lys) | cpvt|sads | | | unmatched | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237832607:G:A,RYR2,VCV000449306,449306,NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,449306,449306,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.14864g>a (p.gly4955glu) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237783708:T:C,RYR2,VCV000427948,427948,NM_001035.3(RYR2):c.11996T>C (p.Met3999Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427948,427948,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 2 | nm_001035.3(ryr2):c.11996t>c (p.met3999thr) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 2 | catecholaminergic polymorphic ventricular tachycardia 2 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237377361:C:G,RYR2,VCV000427184,427184,NM_001035.3(RYR2):c.502C>G (p.Gln168Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427184,427184,,,,unmatched,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0, | nm_001035.3(ryr2):c.502c>g (p.gln168glu) | cpvt|sads | | | unmatched | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237781598:A:G,RYR2,VCV000427164,427164,NM_001035.3(RYR2):c.11914A>G (p.Met3972Val),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427164,427164,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.11914a>g (p.met3972val) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237828390:T:C,RYR2,VCV000423597,423597,NM_001035.3(RYR2):c.14600T>C (p.Ile4867Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,423597,423597,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia | nm_001035.3(ryr2):c.14600t>c (p.ile4867thr) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia | catecholaminergic polymorphic ventricular tachycardia | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237784281:T:G,RYR2,VCV000420865,420865,NM_001035.3(RYR2):c.12569T>G (p.Val4190Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420865,420865,,,,unmatched,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0, | nm_001035.3(ryr2):c.12569t>g (p.val4190gly) | cpvt|sads | | | unmatched | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237783714:A:G,RYR2,VCV000418465,418465,NM_001035.3(RYR2):c.12002A>G (p.Asp4001Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418465,418465,,,,unmatched,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0, | nm_001035.3(ryr2):c.12002a>g (p.asp4001gly) | cpvt|sads | | | unmatched | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237638450:G:A,RYR2,VCV000404218,404218,NM_001035.3(RYR2):c.6886G>A (p.Glu2296Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,404218,404218,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.6886g>a (p.glu2296lys) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237756342:C:T,RYR2,VCV000404208,404208,NM_001035.3(RYR2):c.11200C>T (p.Arg3734Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,404208,404208,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001035.3(ryr2):c.11200c>t (p.arg3734cys) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:237832592:A:G,RYR2,VCV000372588,372588,NM_001035.3(RYR2):c.14849A>G (p.Glu4950Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,372588,372588,,,,unmatched,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0, | nm_001035.3(ryr2):c.14849a>g (p.glu4950gly) | cpvt|sads | | | unmatched | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:237377365:G:T,RYR2,VCV000372582,372582,NM_001035.3(RYR2):c.506G>T (p.Arg169Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,372582,372582,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001035.3(ryr2):c.506g>t (p.arg169leu) | cpvt|sads | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:115702981:C:T,CASQ2,VCV004798117,4798117,NM_001232.4(CASQ2):c.954G>A (p.Trp318Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4798117,4798117,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.954g>a (p.trp318ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115740766:C:A,CASQ2,VCV004281696,4281696,NM_001232.4(CASQ2):c.382G>T (p.Glu128Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4281696,4281696,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 2 | nm_001232.4(casq2):c.382g>t (p.glu128ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 2 | catecholaminergic polymorphic ventricular tachycardia 2 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115732899:AC:A,CASQ2,VCV004219483,4219483,NM_001232.4(CASQ2):c.606+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4219483,4219483,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001232.4(casq2):c.606+1del | cpvt|sads | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,True,False,False,False,False,False,True,True +1:115705283:TCGTAG:T,CASQ2,VCV003722584,3722584,NM_001232.4(CASQ2):c.843_847del (p.Tyr282fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3722584,3722584,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.843_847del (p.tyr282fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115768370:C:A,CASQ2,VCV003722580,3722580,NM_001232.4(CASQ2):c.172G>T (p.Glu58Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3722580,3722580,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.172g>t (p.glu58ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115768496:AG:A,CASQ2,VCV003688556,3688556,NM_001232.4(CASQ2):c.45del (p.Ser16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3688556,3688556,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.45del (p.ser16fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115738337:T:A,CASQ2,VCV003676998,3676998,NM_001232.4(CASQ2):c.421-2A>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3676998,3676998,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.421-2a>t | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115732915:TG:T,CASQ2,VCV003638681,3638681,NM_001232.4(CASQ2):c.591del (p.Thr198fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3638681,3638681,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.591del (p.thr198fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115732924:AT:A,CASQ2,VCV003623127,3623127,NM_001232.4(CASQ2):c.582del (p.Lys194fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3623127,3623127,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.582del (p.lys194fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115768540:A:T,CASQ2,VCV003575736,3575736,NM_001232.4(CASQ2):c.2T>A (p.Met1Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3575736,3575736,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 2 | nm_001232.4(casq2):c.2t>a (p.met1lys) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 2 | catecholaminergic polymorphic ventricular tachycardia 2 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115768531:GTT:G,CASQ2,VCV003575685,3575685,NM_001232.4(CASQ2):c.9_10del (p.Arg3fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3575685,3575685,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 2 | nm_001232.4(casq2):c.9_10del (p.arg3fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 2 | catecholaminergic polymorphic ventricular tachycardia 2 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115732899:A:T,CASQ2,VCV003575384,3575384,NM_001232.4(CASQ2):c.606+2T>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3575384,3575384,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 2|catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.606+2t>a | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 2|catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 2|catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115701253:ATCGTCATCACTGT:A,CASQ2,VCV003338342,3338342,NM_001232.4(CASQ2):c.1175_1187del (p.Asp392fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3338342,3338342,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia | nm_001232.4(casq2):c.1175_1187del (p.asp392fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia | catecholaminergic polymorphic ventricular tachycardia | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115732976:T:C,CASQ2,VCV003263466,3263466,NM_001232.4(CASQ2):c.533-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3263466,3263466,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 2 | nm_001232.4(casq2):c.533-2a>g | cpvt|arrhythmia | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 2 | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 2 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115725509:CA:C,CASQ2,VCV002822271,2822271,NM_001232.4(CASQ2):c.781del (p.Trp261fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2822271,2822271,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.781del (p.trp261fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115768337:G:A,CASQ2,VCV002806492,2806492,NM_001232.4(CASQ2):c.205C>T (p.Gln69Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2806492,2806492,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.205c>t (p.gln69ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115725536:AG:A,CASQ2,VCV002770074,2770074,NM_001232.4(CASQ2):c.754del (p.Leu252fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2770074,2770074,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.754del (p.leu252fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115740732:AAG:A,CASQ2,VCV002744443,2744443,NM_001232.4(CASQ2):c.414_415del (p.Leu139fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2744443,2744443,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.414_415del (p.leu139fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115701359:C:T,CASQ2,VCV002717451,2717451,NM_001232.4(CASQ2):c.1082G>A (p.Trp361Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2717451,2717451,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.1082g>a (p.trp361ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115768510:AT:A,CASQ2,VCV002704628,2704628,NM_001232.4(CASQ2):c.31del (p.Ile11fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2704628,2704628,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.31del (p.ile11fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115744878:C:CTA,CASQ2,VCV002506578,2506578,NM_001232.4(CASQ2):c.268_269insTA (p.Gly90fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2506578,2506578,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 2 | nm_001232.4(casq2):c.268_269insta (p.gly90fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 2 | catecholaminergic polymorphic ventricular tachycardia 2 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115727123:C:T,CASQ2,VCV002438853,2438853,NM_001232.4(CASQ2):c.607-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2438853,2438853,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 2 | nm_001232.4(casq2):c.607-1g>a | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 2 | catecholaminergic polymorphic ventricular tachycardia 2 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115744826:A:C,CASQ2,VCV002089290,2089290,NM_001232.4(CASQ2):c.319+2T>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2089290,2089290,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | nm_001232.4(casq2):c.319+2t>g | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | catecholaminergic polymorphic ventricular tachycardia 1|cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115744885:C:CT,CASQ2,VCV001793918,1793918,NM_001232.4(CASQ2):c.261dup (p.Ala88fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,False,0.5125,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1793918,1793918,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,cardiovascular phenotype||catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.261dup (p.ala88fs) | cpvt|arrhythmia | cardiovascular phenotype||catecholaminergic polymorphic ventricular tachycardia 1 | cardiovascular phenotype||catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115744827:C:T,CASQ2,VCV001324014,1324014,NM_001232.4(CASQ2):c.319+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1324014,1324014,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 2 | nm_001232.4(casq2):c.319+1g>a | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 2 | catecholaminergic polymorphic ventricular tachycardia 2 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +1:115768540:A:G,CASQ2,VCV000452250,452250,NM_001232.4(CASQ2):c.2T>C (p.Met1Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,452250,452250,Wolff-Parkinson-White pattern|Catecholaminergic polymorphic ventricular tachycardia 1,Wolff-Parkinson-White pattern|Catecholaminergic polymorphic ventricular tachycardia 1,Wolff-Parkinson-White pattern|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,wolff-parkinson-white pattern|catecholaminergic polymorphic ventricular tachycardia 1 | nm_001232.4(casq2):c.2t>c (p.met1thr) | cpvt|arrhythmia | wolff-parkinson-white pattern|catecholaminergic polymorphic ventricular tachycardia 1 | wolff-parkinson-white pattern|catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123548549:G:GT,TRDN,VCV004782180,4782180,NM_006073.4(TRDN):c.295dup (p.Thr99fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4782180,4782180,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.295dup (p.thr99fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123503717:A:G,TRDN,VCV004714700,4714700,NM_006073.4(TRDN):c.793+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4714700,4714700,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.793+2t>c | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123516169:TA:T,TRDN,VCV004712099,4712099,NM_006073.4(TRDN):c.521del (p.Val174fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4712099,4712099,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.521del (p.val174fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123337646:T:A,TRDN,VCV004077705,4077705,NM_006073.4(TRDN):c.1393A>T (p.Lys465Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4077705,4077705,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 5 | nm_006073.4(trdn):c.1393a>t (p.lys465ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 5 | catecholaminergic polymorphic ventricular tachycardia 5 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123516208:T:A,TRDN,VCV003721374,3721374,NM_006073.4(TRDN):c.485-2A>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3721374,3721374,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.485-2a>t | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123571134:T:C,TRDN,VCV003669900,3669900,NM_006073.4(TRDN):c.23-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3669900,3669900,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.23-2a>g | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123548461:AG:A,TRDN,VCV003593000,3593000,NM_006073.4(TRDN):c.383del (p.Thr128fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3593000,3593000,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 5 | nm_006073.4(trdn):c.383del (p.thr128fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 5 | catecholaminergic polymorphic ventricular tachycardia 5 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123503894:CTTCTG:C,TRDN,VCV002920531,2920531,NC_000006.12:g.123503896TCTGT[1],Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,2920531,2920531,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nc_000006.12:g.123503896tctgt[1] | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123548510:TC:T,TRDN,VCV002818604,2818604,NM_006073.4(TRDN):c.334del (p.Asp112fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2818604,2818604,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.334del (p.asp112fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123503902:C:T,TRDN,VCV002730579,2730579,NM_006073.4(TRDN):c.611-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,2730579,2730579,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.611-1g>a | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123548518:CA:C,TRDN,VCV002634568,2634568,NM_006073.4(TRDN):c.326del (p.Leu109fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2634568,2634568,TRDN-related disorder|Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,TRDN-related disorder|Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,TRDN-related disorder|Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,trdn-related disorder|catecholaminergic polymorphic ventricular tachycardia 5|catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.326del (p.leu109fs) | cpvt|arrhythmia | trdn-related disorder|catecholaminergic polymorphic ventricular tachycardia 5|catecholaminergic polymorphic ventricular tachycardia 1 | trdn-related disorder|catecholaminergic polymorphic ventricular tachycardia 5|catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123530539:G:A,TRDN,VCV002018973,2018973,NM_006073.4(TRDN):c.451C>T (p.Gln151Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2018973,2018973,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.451c>t (p.gln151ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123636774:A:G,TRDN,VCV001798674,1798674,NM_006073.4(TRDN):c.2T>C (p.Met1Thr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1798674,1798674,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.2t>c (p.met1thr) | cpvt|arrhythmia | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123548553:C:TT,TRDN,VCV001797791,1797791,NM_006073.4(TRDN):c.292delinsAA (p.Glu98fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1797791,1797791,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|SADS,True,True,False,1.0,0.0,cardiovascular phenotype | nm_006073.4(trdn):c.292delinsaa (p.glu98fs) | cpvt|sads | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,True,False,False,False,False,False,True,True +6:123516157:TTC:T,TRDN,VCV001746830,1746830,NM_006073.4(TRDN):c.532_533del (p.Glu178fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1746830,1746830,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.532_533del (p.glu178fs) | cpvt|arrhythmia | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | cardiovascular phenotype|catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123516183:C:A,TRDN,VCV001708485,1708485,NM_006073.4(TRDN):c.508G>T (p.Gly170Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1708485,1708485,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 5 | nm_006073.4(trdn):c.508g>t (p.gly170ter) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 5 | catecholaminergic polymorphic ventricular tachycardia 5 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123571063:AC:A,TRDN,VCV001458047,1458047,NM_006073.4(TRDN):c.91del (p.Val31fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1458047,1458047,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.91del (p.val31fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123570921:A:T,TRDN,VCV000463677,463677,NM_006073.4(TRDN):c.232+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,463677,463677,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.232+2t>a | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123570988:A:G,TRDN,VCV000408740,408740,NM_006073.4(TRDN):c.167T>C (p.Leu56Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,408740,408740,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 5|catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.167t>c (p.leu56pro) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 5|catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 5|catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +6:123503893:TC:T,TRDN,VCV000408737,408737,NM_006073.4(TRDN):c.618del (p.Ala208fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,408737,408737,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,disease_model_collision,CPVT|arrhythmia,True,True,False,1.0,0.0,catecholaminergic polymorphic ventricular tachycardia 1 | nm_006073.4(trdn):c.618del (p.ala208fs) | cpvt|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 1 | catecholaminergic polymorphic ventricular tachycardia 1 | variation_id | true | 1.0,False,False,False,False,False,True,False,True,False,True +14:90404482:A:T,CALM1,VCV004787824,4787824,NM_006888.6(CALM1):c.389A>T (p.Asp130Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4787824,4787824,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id,disease_model_collision,CPVT|LQTS|arrhythmia,True,True,False,1.584962500721156,0.0,catecholaminergic polymorphic ventricular tachycardia 4;long qt syndrome 14 | nm_006888.6(calm1):c.389a>t (p.asp130val) | cpvt|lqts|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 4;long qt syndrome 14 | catecholaminergic polymorphic ventricular tachycardia 4;long qt syndrome 14 | variation_id | true | 1.584962500721156,False,False,False,False,False,True,False,True,False,True +14:90403953:C:G,CALM1,VCV004785412,4785412,NM_006888.6(CALM1):c.270C>G (p.Phe90Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4785412,4785412,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id,disease_model_collision,CPVT|LQTS|arrhythmia,True,True,False,1.584962500721156,0.0,catecholaminergic polymorphic ventricular tachycardia 4;long qt syndrome 14 | nm_006888.6(calm1):c.270c>g (p.phe90leu) | cpvt|lqts|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 4;long qt syndrome 14 | catecholaminergic polymorphic ventricular tachycardia 4;long qt syndrome 14 | variation_id | true | 1.584962500721156,False,False,False,False,False,True,False,True,False,True +14:90404491:G:T,CALM1,VCV003338336,3338336,NM_006888.6(CALM1):c.398G>T (p.Gly133Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3338336,3338336,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome | nm_006888.6(calm1):c.398g>t (p.gly133val) | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +14:90404379:G:T,CALM1,VCV002100843,2100843,NM_006888.6(CALM1):c.286G>T (p.Asp96Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2100843,2100843,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,variation_id,disease_model_collision,CPVT|LQTS|arrhythmia,True,True,False,1.584962500721156,0.0,long qt syndrome 14;catecholaminergic polymorphic ventricular tachycardia 4 | nm_006888.6(calm1):c.286g>t (p.asp96tyr) | cpvt|lqts|arrhythmia | long qt syndrome 14;catecholaminergic polymorphic ventricular tachycardia 4 | long qt syndrome 14;catecholaminergic polymorphic ventricular tachycardia 4 | variation_id | true | 1.584962500721156,False,False,False,False,False,True,False,True,False,True +14:90404488:A:G,CALM1,VCV001362982,1362982,NM_006888.6(CALM1):c.395A>G (p.Asp132Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1362982,1362982,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,variation_id,disease_model_collision,CPVT|LQTS|arrhythmia,True,True,False,1.584962500721156,0.0,long qt syndrome 14;catecholaminergic polymorphic ventricular tachycardia 4 | nm_006888.6(calm1):c.395a>g (p.asp132gly) | cpvt|lqts|arrhythmia | long qt syndrome 14;catecholaminergic polymorphic ventricular tachycardia 4 | long qt syndrome 14;catecholaminergic polymorphic ventricular tachycardia 4 | variation_id | true | 1.584962500721156,False,False,False,False,False,True,False,True,False,True +14:90404689:A:T,CALM1,VCV000974613,974613,NM_006888.6(CALM1):c.422A>T (p.Glu141Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,974613,974613,Long QT syndrome 14,Long QT syndrome 14,Long QT syndrome 14,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 14 | nm_006888.6(calm1):c.422a>t (p.glu141val) | lqts | long qt syndrome 14 | long qt syndrome 14 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +14:90404689:A:G,CALM1,VCV000974612,974612,NM_006888.6(CALM1):c.422A>G (p.Glu141Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,974612,974612,Long QT syndrome 14,Long QT syndrome 14,Long QT syndrome 14,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 14 | nm_006888.6(calm1):c.422a>g (p.glu141gly) | lqts | long qt syndrome 14 | long qt syndrome 14 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +14:90404693:C:A,CALM1,VCV000961658,961658,NM_006888.6(CALM1):c.426C>A (p.Phe142Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,961658,961658,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id,disease_model_collision,CPVT|LQTS|arrhythmia,True,True,False,1.584962500721156,0.0,catecholaminergic polymorphic ventricular tachycardia 4;long qt syndrome 14 | nm_006888.6(calm1):c.426c>a (p.phe142leu) | cpvt|lqts|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 4;long qt syndrome 14 | catecholaminergic polymorphic ventricular tachycardia 4;long qt syndrome 14 | variation_id | true | 1.584962500721156,False,False,False,False,False,True,False,True,False,True +14:90404488:A:T,CALM1,VCV000948239,948239,NM_006888.6(CALM1):c.395A>T (p.Asp132Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,948239,948239,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,variation_id,disease_model_collision,CPVT|LQTS|arrhythmia,True,True,False,1.584962500721156,0.0,long qt syndrome 14;catecholaminergic polymorphic ventricular tachycardia 4 | nm_006888.6(calm1):c.395a>t (p.asp132val) | cpvt|lqts|arrhythmia | long qt syndrome 14;catecholaminergic polymorphic ventricular tachycardia 4 | long qt syndrome 14;catecholaminergic polymorphic ventricular tachycardia 4 | variation_id | true | 1.584962500721156,False,False,False,False,False,True,False,True,False,True +14:90404487:G:A,CALM1,VCV000639902,639902,NM_006888.6(CALM1):c.394G>A (p.Asp132Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,639902,639902,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id,disease_model_collision,CPVT|LQTS|arrhythmia,True,True,False,1.584962500721156,0.0,catecholaminergic polymorphic ventricular tachycardia 4;long qt syndrome 14 | nm_006888.6(calm1):c.394g>a (p.asp132asn) | cpvt|lqts|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 4;long qt syndrome 14 | catecholaminergic polymorphic ventricular tachycardia 4;long qt syndrome 14 | variation_id | true | 1.584962500721156,False,False,False,False,False,True,False,True,False,True +14:90404491:G:A,CALM1,VCV000542137,542137,NM_006888.6(CALM1):c.398G>A (p.Gly133Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,542137,542137,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id,disease_model_collision,CPVT|LQTS|arrhythmia,True,True,False,1.584962500721156,0.0,catecholaminergic polymorphic ventricular tachycardia 4;long qt syndrome 14 | nm_006888.6(calm1):c.398g>a (p.gly133glu) | cpvt|lqts|arrhythmia | catecholaminergic polymorphic ventricular tachycardia 4;long qt syndrome 14 | catecholaminergic polymorphic ventricular tachycardia 4;long qt syndrome 14 | variation_id | true | 1.584962500721156,False,False,False,False,False,True,False,True,False,True +14:90404691:T:C,CALM1,VCV000426161,426161,NM_006888.6(CALM1):c.424T>C (p.Phe142Leu),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,426161,426161,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4|Cardiovascular phenotype,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4|Cardiovascular phenotype,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4|Cardiovascular phenotype,variation_id,disease_model_collision,CPVT|LQTS|arrhythmia,True,True,False,1.584962500721156,0.0,long qt syndrome 14;catecholaminergic polymorphic ventricular tachycardia 4|cardiovascular phenotype | nm_006888.6(calm1):c.424t>c (p.phe142leu) | cpvt|lqts|arrhythmia | long qt syndrome 14;catecholaminergic polymorphic ventricular tachycardia 4|cardiovascular phenotype | long qt syndrome 14;catecholaminergic polymorphic ventricular tachycardia 4|cardiovascular phenotype | variation_id | true | 1.584962500721156,False,False,False,False,False,True,False,True,False,True +14:90404512:A:T,CALM1,VCV000418107,418107,NM_006888.6(CALM1):c.419A>T (p.Glu140Val),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418107,418107,,,,unmatched,disease_model_collision,CPVT|LQTS|SADS,True,True,False,1.584962500721156,0.0, | nm_006888.6(calm1):c.419a>t (p.glu140val) | cpvt|lqts|sads | | | unmatched | true | 1.584962500721156,False,False,True,False,False,False,False,False,True,True +14:90404406:G:A,CALM1,VCV000388500,388500,NM_006888.6(CALM1):c.313G>A (p.Glu105Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,388500,388500,,,,unmatched,disease_model_collision,CPVT|LQTS|SADS,True,True,False,1.584962500721156,0.0, | nm_006888.6(calm1):c.313g>a (p.glu105lys) | cpvt|lqts|sads | | | unmatched | true | 1.584962500721156,False,False,True,False,False,False,False,False,True,True +14:90401312:A:C,CALM1,VCV000384090,384090,NM_006888.6(CALM1):c.88A>C (p.Thr30Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,384090,384090,,,,unmatched,disease_model_collision,CPVT|LQTS|SADS,True,True,False,1.584962500721156,0.0, | nm_006888.6(calm1):c.88a>c (p.thr30pro) | cpvt|lqts|sads | | | unmatched | true | 1.584962500721156,False,False,True,False,False,False,False,False,True,True +2:47162303:A:G,CALM2,VCV002734184,2734184,NM_001743.6(CALM2):c.268T>C (p.Phe90Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2734184,2734184,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 1 | nm_001743.6(calm2):c.268t>c (p.phe90leu) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +2:47161831:C:G,CALM2,VCV002500174,2500174,NM_001743.6(CALM2):c.313G>C (p.Glu105Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2500174,2500174,Long QT syndrome 15,Long QT syndrome 15,Long QT syndrome 15,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 15 | nm_001743.6(calm2):c.313g>c (p.glu105gln) | lqts | long qt syndrome 15 | long qt syndrome 15 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +2:47161750:C:A,CALM2,VCV001456260,1456260,NM_001743.6(CALM2):c.394G>T (p.Asp132Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1456260,1456260,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 1 | nm_001743.6(calm2):c.394g>t (p.asp132tyr) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +2:47161756:C:T,CALM2,VCV001398892,1398892,NM_001743.6(CALM2):c.388G>A (p.Asp130Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1398892,1398892,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 1 | nm_001743.6(calm2):c.388g>a (p.asp130asn) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +2:47161804:C:T,CALM2,VCV001327459,1327459,NM_001743.6(CALM2):c.340G>A (p.Gly114Arg),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1327459,1327459,SUDDEN INFANT DEATH SYNDROME,SUDDEN INFANT DEATH SYNDROME,SUDDEN INFANT DEATH SYNDROME,variation_id,disease_model_collision,SADS,True,True,False,-0.0,0.0,sudden infant death syndrome | nm_001743.6(calm2):c.340g>a (p.gly114arg) | sads | sudden infant death syndrome | sudden infant death syndrome | variation_id | true | -0.0,False,False,True,False,False,False,False,False,True,True +2:47161747:C:T,CALM2,VCV001067140,1067140,NM_001743.6(CALM2):c.397G>A (p.Gly133Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1067140,1067140,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 1 | nm_001743.6(calm2):c.397g>a (p.gly133ser) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +2:47161749:T:C,CALM2,VCV000955533,955533,NM_001743.6(CALM2):c.395A>G (p.Asp132Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,955533,955533,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 1 | nm_001743.6(calm2):c.395a>g (p.asp132gly) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +2:47161755:T:C,CALM2,VCV000812710,812710,NM_001743.6(CALM2):c.389A>G (p.Asp130Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,812710,812710,Long QT syndrome 15|Long QT syndrome 1,Long QT syndrome 15|Long QT syndrome 1,Long QT syndrome 15|Long QT syndrome 1,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 15|long qt syndrome 1 | nm_001743.6(calm2):c.389a>g (p.asp130gly) | lqts | long qt syndrome 15|long qt syndrome 1 | long qt syndrome 15|long qt syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +2:47161858:C:A,CALM2,VCV000641544,641544,NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,641544,641544,Long QT syndrome 1|Long QT syndrome 15,Long QT syndrome 1|Long QT syndrome 15,Long QT syndrome 1|Long QT syndrome 15,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 1|long qt syndrome 15 | nm_001743.6(calm2):c.286g>t (p.asp96tyr) | lqts | long qt syndrome 1|long qt syndrome 15 | long qt syndrome 1|long qt syndrome 15 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +2:47160792:A:C,CALM2,VCV000576319,576319,NM_001743.6(CALM2):c.434T>G (p.Met145Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,576319,576319,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 1 | nm_001743.6(calm2):c.434t>g (p.met145arg) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +2:47161730:G:C,CALM2,VCV000488476,488476,NM_001743.6(CALM2):c.414C>G (p.Asn138Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,488476,488476,Long QT syndrome 15,Long QT syndrome 15,Long QT syndrome 15,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 15 | nm_001743.6(calm2):c.414c>g (p.asn138lys) | lqts | long qt syndrome 15 | long qt syndrome 15 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +2:47161744:C:T,CALM2,VCV000448971,448971,NM_001743.6(CALM2):c.400G>A (p.Asp134Asn),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,448971,448971,Long QT syndrome 15|Long QT syndrome 1,Long QT syndrome 15|Long QT syndrome 1,Long QT syndrome 15|Long QT syndrome 1,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 15|long qt syndrome 1 | nm_001743.6(calm2):c.400g>a (p.asp134asn) | lqts | long qt syndrome 15|long qt syndrome 1 | long qt syndrome 15|long qt syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +19:46609129:T:G,CALM3,VCV002138308,2138308,NM_005184.4(CALM3):c.426T>G (p.Phe142Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2138308,2138308,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 1 | nm_005184.4(calm3):c.426t>g (p.phe142leu) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +19:46608950:C:G,CALM3,VCV001358003,1358003,NM_005184.4(CALM3):c.390C>G (p.Asp130Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1358003,1358003,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 1 | nm_005184.4(calm3):c.390c>g (p.asp130glu) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +19:46608981:G:A,CALM3,VCV000812678,812678,NM_005184.4(CALM3):c.421G>A (p.Glu141Lys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,812678,812678,Long QT syndrome 16|Long QT syndrome 1,Long QT syndrome 16|Long QT syndrome 1,Long QT syndrome 16|Long QT syndrome 1,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 16|long qt syndrome 1 | nm_005184.4(calm3):c.421g>a (p.glu141lys) | lqts | long qt syndrome 16|long qt syndrome 1 | long qt syndrome 16|long qt syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +19:46608949:A:G,CALM3,VCV000812676,812676,NM_005184.4(CALM3):c.389A>G (p.Asp130Gly),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,812676,812676,Long QT syndrome 16,Long QT syndrome 16,Long QT syndrome 16,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 16 | nm_005184.4(calm3):c.389a>g (p.asp130gly) | lqts | long qt syndrome 16 | long qt syndrome 16 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +19:46609125:A:G,CALM3,VCV000458198,458198,NM_005184.4(CALM3):c.422A>G (p.Glu141Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,458198,458198,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 1 | nm_005184.4(calm3):c.422a>g (p.glu141gly) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +19:46608584:A:C,CALM3,VCV000409871,409871,NM_005184.4(CALM3):c.281A>C (p.Asp94Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,409871,409871,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 1 | nm_005184.4(calm3):c.281a>c (p.asp94ala) | lqts | long qt syndrome 1 | long qt syndrome 1 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +19:46608846:G:C,CALM3,VCV000409870,409870,NM_005184.4(CALM3):c.286G>C (p.Asp96His),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,409870,409870,Long QT syndrome 1|Long QT syndrome 16,Long QT syndrome 1|Long QT syndrome 16,Long QT syndrome 1|Long QT syndrome 16,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 1|long qt syndrome 16 | nm_005184.4(calm3):c.286g>c (p.asp96his) | lqts | long qt syndrome 1|long qt syndrome 16 | long qt syndrome 1|long qt syndrome 16 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +19:46608955:A:G,CALM3,VCV000389576,389576,NM_005184.4(CALM3):c.395A>G (p.Asp132Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,389576,389576,,,,unmatched,disease_model_collision,CPVT|LQTS|SADS,True,True,False,1.584962500721156,0.0, | nm_005184.4(calm3):c.395a>g (p.asp132gly) | cpvt|lqts|sads | | | unmatched | true | 1.584962500721156,False,False,True,False,False,False,False,False,True,True +4:113332071:G:A,ANK2,VCV004796659,4796659,NM_001148.6(ANK2):c.3224+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4796659,4796659,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0, | nm_001148.6(ank2):c.3224+1g>a | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113343099:G:GT,ANK2,VCV004732021,4732021,NM_001148.6(ANK2):c.4212dup (p.Ala1405fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,4732021,4732021,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome | nm_001148.6(ank2):c.4212dup (p.ala1405fs) | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +4:113359191:G:T,ANK2,VCV004725226,4725226,NM_001148.6(ANK2):c.10573G>T (p.Glu3525Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4725226,4725226,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome | nm_001148.6(ank2):c.10573g>t (p.glu3525ter) | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +4:113357844:C:T,ANK2,VCV004721538,4721538,NM_001148.6(ANK2):c.9226C>T (p.Gln3076Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4721538,4721538,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome | nm_001148.6(ank2):c.9226c>t (p.gln3076ter) | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +4:113333098:AG:A,ANK2,VCV004708265,4708265,NM_001148.6(ANK2):c.3271del (p.Glu1091fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4708265,4708265,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome | nm_001148.6(ank2):c.3271del (p.glu1091fs) | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +4:113354062:CAG:C,ANK2,VCV004683080,4683080,NM_001148.6(ANK2):c.5450_5451del (p.Arg1817fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4683080,4683080,ANK2-associated seizure disorder,ANK2-associated seizure disorder,ANK2-associated seizure disorder,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,ank2-associated seizure disorder | nm_001148.6(ank2):c.5450_5451del (p.arg1817fs) | lqts|arrhythmia | ank2-associated seizure disorder | ank2-associated seizure disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113357838:C:T,ANK2,VCV004613600,4613600,NM_001148.6(ANK2):c.9220C>T (p.Gln3074Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4613600,4613600,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001148.6(ank2):c.9220c>t (p.gln3074ter) | lqts|arrhythmia | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113357853:AC:A,ANK2,VCV004613598,4613598,NM_001148.6(ANK2):c.9239del (p.Pro3080fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4613598,4613598,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001148.6(ank2):c.9239del (p.pro3080fs) | lqts|arrhythmia | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113348282:G:T,ANK2,VCV004531921,4531921,NM_001148.6(ANK2):c.4378G>T (p.Glu1460Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531921,4531921,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,neurodevelopmental disorder | nm_001148.6(ank2):c.4378g>t (p.glu1460ter) | lqts|arrhythmia | neurodevelopmental disorder | neurodevelopmental disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113346023:G:A,ANK2,VCV004293673,4293673,NM_001148.6(ANK2):c.4371+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4293673,4293673,ANK2-related disorder,ANK2-related disorder,ANK2-related disorder,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,ank2-related disorder | nm_001148.6(ank2):c.4371+1g>a | lqts|arrhythmia | ank2-related disorder | ank2-related disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113356654:C:G,ANK2,VCV004292238,4292238,NM_001148.6(ANK2):c.8036C>G (p.Ser2679Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4292238,4292238,ANK-related Autism spectrum disorder and epilepsy,ANK-related Autism spectrum disorder and epilepsy,ANK-related Autism spectrum disorder and epilepsy,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,ank-related autism spectrum disorder and epilepsy | nm_001148.6(ank2):c.8036c>g (p.ser2679ter) | lqts|arrhythmia | ank-related autism spectrum disorder and epilepsy | ank-related autism spectrum disorder and epilepsy | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113358882:G:T,ANK2,VCV004097147,4097147,NM_001148.6(ANK2):c.10264G>T (p.Glu3422Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4097147,4097147,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001148.6(ank2):c.10264g>t (p.glu3422ter) | lqts|arrhythmia | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113357955:C:T,ANK2,VCV004097146,4097146,NM_001148.6(ANK2):c.9337C>T (p.Arg3113Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4097146,4097146,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_001148.6(ank2):c.9337c>t (p.arg3113ter) | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +4:113287648:T:G,ANK2,VCV004088107,4088107,NM_001148.6(ANK2):c.2123T>G (p.Val708Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4088107,4088107,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0, | nm_001148.6(ank2):c.2123t>g (p.val708gly) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113355367:C:T,ANK2,VCV004075802,4075802,NM_001148.6(ANK2):c.6749C>T (p.Ser2250Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4075802,4075802,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,brugada syndrome | nm_001148.6(ank2):c.6749c>t (p.ser2250leu) | brugada | brugada syndrome | brugada syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +4:113353201:AG:A,ANK2,VCV004075490,4075490,NM_001148.6(ANK2):c.4585del (p.Ala1529fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4075490,4075490,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0, | nm_001148.6(ank2):c.4585del (p.ala1529fs) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113360821:A:G,ANK2,VCV004071961,4071961,NM_001148.6(ANK2):c.10682-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4071961,4071961,ANK2-associated disorder,ANK2-associated disorder,ANK2-associated disorder,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,ank2-associated disorder | nm_001148.6(ank2):c.10682-2a>g | lqts|arrhythmia | ank2-associated disorder | ank2-associated disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113346022:G:A,ANK2,VCV004071958,4071958,NM_001148.6(ANK2):c.4371G>A (p.Lys1457=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4071958,4071958,ANK2-associated disorder,ANK2-associated disorder,ANK2-associated disorder,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,ank2-associated disorder | nm_001148.6(ank2):c.4371g>a (p.lys1457=) | lqts|arrhythmia | ank2-associated disorder | ank2-associated disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113353828:T:A,ANK2,VCV004051668,4051668,NM_001148.6(ANK2):c.5210T>A (p.Leu1737Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4051668,4051668,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001148.6(ank2):c.5210t>a (p.leu1737ter) | lqts|arrhythmia | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113317810:G:A,ANK2,VCV003898990,3898990,NM_001148.6(ANK2):c.2796+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3898990,3898990,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0, | nm_001148.6(ank2):c.2796+1g>a | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113353508:GAA:G,ANK2,VCV003897593,3897593,NM_001148.6(ANK2):c.4892_4893del (p.Lys1631fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3897593,3897593,"Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related",variation_id,disease_model_collision,arrhythmia,True,True,False,-0.0,0.0,"cardiac arrhythmia, ankyrin-b-related | nm_001148.6(ank2):c.4892_4893del (p.lys1631fs) | arrhythmia | cardiac arrhythmia, ankyrin-b-related | cardiac arrhythmia, ankyrin-b-related | variation_id | true | -0.0",False,False,False,False,False,False,False,False,False,False +4:113335941:C:T,ANK2,VCV003772520,3772520,NM_001148.6(ANK2):c.3475C>T (p.Gln1159Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3772520,3772520,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0, | nm_001148.6(ank2):c.3475c>t (p.gln1159ter) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113357857:CT:C,ANK2,VCV003729667,3729667,NM_001148.6(ANK2):c.9240del (p.Asp3081fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3729667,3729667,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome | nm_001148.6(ank2):c.9240del (p.asp3081fs) | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +4:113357939:AT:A,ANK2,VCV003654249,3654249,NM_001148.6(ANK2):c.9323del (p.Leu3108fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3654249,3654249,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome | nm_001148.6(ank2):c.9323del (p.leu3108fs) | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +4:113317795:AT:A,ANK2,VCV003632705,3632705,NM_001148.6(ANK2):c.2784del (p.Ser930fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3632705,3632705,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome | nm_001148.6(ank2):c.2784del (p.ser930fs) | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +4:113353367:TGA:T,ANK2,VCV003540989,3540989,NM_001148.6(ANK2):c.4755_4756del (p.Gly1586fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,3540989,3540989,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001148.6(ank2):c.4755_4756del (p.gly1586fs) | lqts|arrhythmia | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113330274:C:T,ANK2,VCV003540979,3540979,NM_001148.6(ANK2):c.2929C>T (p.Arg977Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3540979,3540979,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001148.6(ank2):c.2929c>t (p.arg977ter) | lqts|arrhythmia | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113335878:C:T,ANK2,VCV003390615,3390615,NM_001148.6(ANK2):c.3412C>T (p.Arg1138Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3390615,3390615,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0, | nm_001148.6(ank2):c.3412c>t (p.arg1138ter) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113049789:CAG:C,ANK2,VCV003383192,3383192,NM_001148.6(ANK2):c.64_65del (p.Arg22fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3383192,3383192,"Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related",variation_id,disease_model_collision,arrhythmia,True,True,False,-0.0,0.0,"cardiac arrhythmia, ankyrin-b-related | nm_001148.6(ank2):c.64_65del (p.arg22fs) | arrhythmia | cardiac arrhythmia, ankyrin-b-related | cardiac arrhythmia, ankyrin-b-related | variation_id | true | -0.0",False,False,False,False,False,False,False,False,False,False +4:113358927:ATACT:A,ANK2,VCV003377103,3377103,NM_001148.6(ANK2):c.10313_10316del (p.Leu3438fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3377103,3377103,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,neurodevelopmental disorder | nm_001148.6(ank2):c.10313_10316del (p.leu3438fs) | lqts|arrhythmia | neurodevelopmental disorder | neurodevelopmental disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113358157:ACTTACT:TGGATGATGAG,ANK2,VCV003376714,3376714,NM_001148.6(ANK2):c.9539_9545delinsTGGATGATGAG (p.Asp3180fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376714,3376714,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,neurodevelopmental disorder | nm_001148.6(ank2):c.9539_9545delinstggatgatgag (p.asp3180fs) | lqts|arrhythmia | neurodevelopmental disorder | neurodevelopmental disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113354861:T:TG,ANK2,VCV003376713,3376713,NM_001148.6(ANK2):c.6245dup (p.Gly2083fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3376713,3376713,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,neurodevelopmental disorder | nm_001148.6(ank2):c.6245dup (p.gly2083fs) | lqts|arrhythmia | neurodevelopmental disorder | neurodevelopmental disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113354249:ACACT:A,ANK2,VCV003376711,3376711,NM_001148.6(ANK2):c.5635_5638del (p.Ser1879fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3376711,3376711,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,neurodevelopmental disorder | nm_001148.6(ank2):c.5635_5638del (p.ser1879fs) | lqts|arrhythmia | neurodevelopmental disorder | neurodevelopmental disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113365182:G:A,ANK2,VCV003365181,3365181,NM_001148.6(ANK2):c.11032G>A (p.Gly3678Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3365181,3365181,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0, | nm_001148.6(ank2):c.11032g>a (p.gly3678arg) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113354341:GC:G,ANK2,VCV003344952,3344952,NM_001148.6(ANK2):c.5724del (p.Thr1910fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3344952,3344952,ANK2-related disorder,ANK2-related disorder,ANK2-related disorder,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,ank2-related disorder | nm_001148.6(ank2):c.5724del (p.thr1910fs) | lqts|arrhythmia | ank2-related disorder | ank2-related disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113343143:G:T,ANK2,VCV003340753,3340753,NM_001148.6(ANK2):c.4248+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3340753,3340753,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0, | nm_001148.6(ank2):c.4248+1g>t | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113360880:T:C,ANK2,VCV003338731,3338731,NM_001148.6(ANK2):c.10739T>C (p.Leu3580Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3338731,3338731,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0, | nm_001148.6(ank2):c.10739t>c (p.leu3580pro) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113302840:G:A,ANK2,VCV003337796,3337796,NM_001148.6(ANK2):c.2548+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3337796,3337796,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0, | nm_001148.6(ank2):c.2548+1g>a | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113357732:TG:T,ANK2,VCV003119609,3119609,NM_001148.6(ANK2):c.9115del (p.Asp3039fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3119609,3119609,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001148.6(ank2):c.9115del (p.asp3039fs) | lqts|arrhythmia | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113363349:G:T,ANK2,VCV003068471,3068471,NM_001148.6(ANK2):c.10768G>T (p.Glu3590Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3068471,3068471,ANK2-associated Neurodevelopmental Disorder,ANK2-associated Neurodevelopmental Disorder,ANK2-associated Neurodevelopmental Disorder,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,ank2-associated neurodevelopmental disorder | nm_001148.6(ank2):c.10768g>t (p.glu3590ter) | lqts|arrhythmia | ank2-associated neurodevelopmental disorder | ank2-associated neurodevelopmental disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113354752:CAG:C,ANK2,VCV003030812,3030812,NM_001148.6(ANK2):c.6138_6139del (p.Asn2047fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3030812,3030812,ANK2-related disorder,ANK2-related disorder,ANK2-related disorder,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,ank2-related disorder | nm_001148.6(ank2):c.6138_6139del (p.asn2047fs) | lqts|arrhythmia | ank2-related disorder | ank2-related disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113357778:GC:G,ANK2,VCV002861152,2861152,NM_001148.6(ANK2):c.9162del (p.Phe3055fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2861152,2861152,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome | nm_001148.6(ank2):c.9162del (p.phe3055fs) | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +4:113343096:TC:T,ANK2,VCV002672177,2672177,NM_001148.6(ANK2):c.4203del (p.Phe1401fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2672177,2672177,Complex neurodevelopmental disorder,Complex neurodevelopmental disorder,Complex neurodevelopmental disorder,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,complex neurodevelopmental disorder | nm_001148.6(ank2):c.4203del (p.phe1401fs) | lqts|arrhythmia | complex neurodevelopmental disorder | complex neurodevelopmental disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113332043:T:TG,ANK2,VCV002576797,2576797,NM_001148.6(ANK2):c.3201dup (p.Pro1068fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2576797,2576797,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0, | nm_001148.6(ank2):c.3201dup (p.pro1068fs) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113330297:CAG:C,ANK2,VCV002575852,2575852,NM_001148.6(ANK2):c.2954_2955del (p.Arg985fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575852,2575852,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0, | nm_001148.6(ank2):c.2954_2955del (p.arg985fs) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113373350:GC:TT,ANK2,VCV002565317,2565317,NM_001148.6(ANK2):c.11760_11761delinsTT (p.Gln3921Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,LOF,,,,,,,,,,,False,False,False,False,False,0.6136363636363636,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2565317,2565317,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,cardiovascular phenotype|long qt syndrome | nm_001148.6(ank2):c.11760_11761delinstt (p.gln3921ter) | lqts | cardiovascular phenotype|long qt syndrome | cardiovascular phenotype|long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +4:113292416:AACGGCTAC:A,ANK2,VCV002544521,2544521,NM_001148.6(ANK2):c.2282_2289del (p.Gly761fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2544521,2544521,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001148.6(ank2):c.2282_2289del (p.gly761fs) | lqts|arrhythmia | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113255780:G:T,ANK2,VCV002506786,2506786,NM_001148.6(ANK2):c.1036G>T (p.Glu346Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2506786,2506786,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0, | nm_001148.6(ank2):c.1036g>t (p.glu346ter) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113355370:CAAAGA:C,ANK2,VCV002499788,2499788,NM_001148.6(ANK2):c.6757_6761del (p.Lys2252_Lys2253insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,False,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2499788,2499788,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001148.6(ank2):c.6757_6761del (p.lys2252_lys2253inster) | lqts|arrhythmia | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113357802:G:T,ANK2,VCV002430081,2430081,NM_001148.6(ANK2):c.9184G>T (p.Glu3062Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2430081,2430081,Autism spectrum disorder,Autism spectrum disorder,Autism spectrum disorder,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,autism spectrum disorder | nm_001148.6(ank2):c.9184g>t (p.glu3062ter) | lqts|arrhythmia | autism spectrum disorder | autism spectrum disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113369632:C:T,ANK2,VCV002228433,2228433,NM_001148.6(ANK2):c.11437C>T (p.Gln3813Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2228433,2228433,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001148.6(ank2):c.11437c>t (p.gln3813ter) | lqts|arrhythmia | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113174449:AGAGCAGGCAACCTGGACAAAGTTGTGGAATATCTGAAGGGGGGCATAGACATCAATACCTGCAATCAGGTAAGAACATGGCAGCTAGCTCTGTGTTGTGCAACGAAGGAACACTCATTACATTCTCAGAGCCCAAGATTATTTTTGTCTTTATTAAAAATACTAAAATATCAGTGACTCAGACTTCTGAAATCCCATTTTTTGCCCCCTTACCAACTTTTCAAGTATCAGATGTTTGTATCTA:GAGCTAATGTTGCTGAAAAATTAGCTCC,ANK2,VCV002121821,2121821,NM_001148.6(ANK2):c.118_186+175delinsGAGCTAATGTTGCTGAAAAATTAGCTCC,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2121821,2121821,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome | nm_001148.6(ank2):c.118_186+175delinsgagctaatgttgctgaaaaattagctcc | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +4:113358433:AT:A,ANK2,VCV002029441,2029441,NM_001148.6(ANK2):c.9817del (p.Ser3273fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2029441,2029441,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome | nm_001148.6(ank2):c.9817del (p.ser3273fs) | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +4:113333109:C:CT,ANK2,VCV001729746,1729746,NM_001148.6(ANK2):c.3281dup (p.Val1095fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1729746,1729746,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,cardiovascular phenotype | nm_001148.6(ank2):c.3281dup (p.val1095fs) | lqts|arrhythmia | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113242117:A:C,ANK2,VCV001695772,1695772,NM_001148.6(ANK2):c.799A>C (p.Ile267Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1695772,1695772,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0, | nm_001148.6(ank2):c.799a>c (p.ile267leu) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113117420:T:C,ANK2,VCV001678114,1678114,NM_001148.6(ANK2):c.85-56996T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1678114,1678114,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0, | nm_001148.6(ank2):c.85-56996t>c | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113311281:G:T,ANK2,VCV001678112,1678112,NM_001148.6(ANK2):c.2575G>T (p.Gly859Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1678112,1678112,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0, | nm_001148.6(ank2):c.2575g>t (p.gly859ter) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113359094:G:GAC,ANK2,VCV001483377,1483377,NM_001148.6(ANK2):c.10480_10481dup (p.Gln3494fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1483377,1483377,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome | nm_001148.6(ank2):c.10480_10481dup (p.gln3494fs) | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +4:113311368:C:T,ANK2,VCV001334346,1334346,NM_001148.6(ANK2):c.2662C>T (p.Arg888Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1334346,1334346,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0, | nm_001148.6(ank2):c.2662c>t (p.arg888ter) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113353994:AGG:A,ANK2,VCV001317290,1317290,NM_001148.6(ANK2):c.5377_5378del (p.Gly1793fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1317290,1317290,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0, | nm_001148.6(ank2):c.5377_5378del (p.gly1793fs) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113330364:C:T,ANK2,VCV000985758,985758,NM_001148.6(ANK2):c.3019C>T (p.Arg1007Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,985758,985758,"Inborn genetic diseases|Cardiac arrhythmia, ankyrin-B-related","Inborn genetic diseases|Cardiac arrhythmia, ankyrin-B-related","Inborn genetic diseases|Cardiac arrhythmia, ankyrin-B-related",variation_id,disease_model_collision,arrhythmia,True,True,False,-0.0,0.0,"inborn genetic diseases|cardiac arrhythmia, ankyrin-b-related | nm_001148.6(ank2):c.3019c>t (p.arg1007ter) | arrhythmia | inborn genetic diseases|cardiac arrhythmia, ankyrin-b-related | inborn genetic diseases|cardiac arrhythmia, ankyrin-b-related | variation_id | true | -0.0",False,False,False,False,False,False,False,False,False,False +4:113288387:G:A,ANK2,VCV000985336,985336,NM_001148.6(ANK2):c.2179-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,985336,985336,Inborn genetic diseases,Inborn genetic diseases,Inborn genetic diseases,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,inborn genetic diseases | nm_001148.6(ank2):c.2179-1g>a | lqts|arrhythmia | inborn genetic diseases | inborn genetic diseases | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113358977:CA:C,ANK2,VCV000985206,985206,NM_001148.6(ANK2):c.10360del (p.Arg3454fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,985206,985206,Inborn genetic diseases,Inborn genetic diseases,Inborn genetic diseases,variation_id,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0,inborn genetic diseases | nm_001148.6(ank2):c.10360del (p.arg3454fs) | lqts|arrhythmia | inborn genetic diseases | inborn genetic diseases | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +4:113358096:G:T,ANK2,VCV000954568,954568,NM_001148.6(ANK2):c.9478G>T (p.Glu3160Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,954568,954568,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome | nm_001148.6(ank2):c.9478g>t (p.glu3160ter) | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +4:113335953:CTGAT:C,ANK2,VCV000818077,818077,NM_001148.6(ANK2):c.3490_3493del (p.Ile1164fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,818077,818077,,,,unmatched,disease_model_collision,LQTS|arrhythmia,True,True,False,1.0,0.0, | nm_001148.6(ank2):c.3490_3493del (p.ile1164fs) | lqts|arrhythmia | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +17:70175686:A:G,KCNJ2,VCV004788797,4788797,NM_000891.3(KCNJ2):c.647A>G (p.Asn216Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4788797,4788797,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,disease_model_collision,SQTS,True,True,False,-0.0,0.0,andersen tawil syndrome;short qt syndrome type 3 | nm_000891.3(kcnj2):c.647a>g (p.asn216ser) | sqts | andersen tawil syndrome;short qt syndrome type 3 | andersen tawil syndrome;short qt syndrome type 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +17:70175387:CA:C,KCNJ2,VCV004784294,4784294,NM_000891.3(KCNJ2):c.351del (p.Glu118fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4784294,4784294,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,disease_model_collision,SQTS,True,True,False,-0.0,0.0,andersen tawil syndrome;short qt syndrome type 3 | nm_000891.3(kcnj2):c.351del (p.glu118fs) | sqts | andersen tawil syndrome;short qt syndrome type 3 | andersen tawil syndrome;short qt syndrome type 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +17:70175596:C:G,KCNJ2,VCV004783746,4783746,NM_000891.3(KCNJ2):c.557C>G (p.Pro186Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4783746,4783746,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,disease_model_collision,SQTS,True,True,False,-0.0,0.0,andersen tawil syndrome;short qt syndrome type 3 | nm_000891.3(kcnj2):c.557c>g (p.pro186arg) | sqts | andersen tawil syndrome;short qt syndrome type 3 | andersen tawil syndrome;short qt syndrome type 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +17:70176083:C:G,KCNJ2,VCV003755832,3755832,NM_000891.3(KCNJ2):c.1044C>G (p.Tyr348Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3755832,3755832,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,disease_model_collision,SQTS,True,True,False,-0.0,0.0,andersen tawil syndrome;short qt syndrome type 3 | nm_000891.3(kcnj2):c.1044c>g (p.tyr348ter) | sqts | andersen tawil syndrome;short qt syndrome type 3 | andersen tawil syndrome;short qt syndrome type 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +17:70175308:T:G,KCNJ2,VCV003220886,3220886,NM_000891.3(KCNJ2):c.269T>G (p.Leu90Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3220886,3220886,Andersen Tawil syndrome,Andersen Tawil syndrome,Andersen Tawil syndrome,variation_id,disease_model_collision,LQTS|periodic_paralysis,True,True,False,1.0,0.0,andersen tawil syndrome | nm_000891.3(kcnj2):c.269t>g (p.leu90arg) | lqts|periodic_paralysis | andersen tawil syndrome | andersen tawil syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +17:70175941:T:A,KCNJ2,VCV002682647,2682647,NM_000891.3(KCNJ2):c.902T>A (p.Met301Lys),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2682647,2682647,Short QT syndrome type 3,Short QT syndrome type 3,Short QT syndrome type 3,variation_id,disease_model_collision,SQTS,True,True,False,-0.0,0.0,short qt syndrome type 3 | nm_000891.3(kcnj2):c.902t>a (p.met301lys) | sqts | short qt syndrome type 3 | short qt syndrome type 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +17:70175271:G:A,KCNJ2,VCV002036326,2036326,NM_000891.3(KCNJ2):c.232G>A (p.Asp78Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2036326,2036326,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,disease_model_collision,SQTS,True,True,False,-0.0,0.0,andersen tawil syndrome;short qt syndrome type 3 | nm_000891.3(kcnj2):c.232g>a (p.asp78asn) | sqts | andersen tawil syndrome;short qt syndrome type 3 | andersen tawil syndrome;short qt syndrome type 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +17:70175263:C:A,KCNJ2,VCV002020840,2020840,NM_000891.3(KCNJ2):c.224C>A (p.Thr75Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2020840,2020840,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,disease_model_collision,SQTS,True,True,False,-0.0,0.0,andersen tawil syndrome;short qt syndrome type 3 | nm_000891.3(kcnj2):c.224c>a (p.thr75lys) | sqts | andersen tawil syndrome;short qt syndrome type 3 | andersen tawil syndrome;short qt syndrome type 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +17:70175464:C:T,KCNJ2,VCV001739158,1739158,NM_000891.3(KCNJ2):c.425C>T (p.Thr142Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1739158,1739158,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,LQTS|periodic_paralysis,True,True,False,1.0,0.0,cardiovascular phenotype | nm_000891.3(kcnj2):c.425c>t (p.thr142ile) | lqts|periodic_paralysis | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +17:70175685:A:T,KCNJ2,VCV001496231,1496231,NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1496231,1496231,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,variation_id,disease_model_collision,SQTS,True,True,False,-0.0,0.0,short qt syndrome type 3;andersen tawil syndrome | nm_000891.3(kcnj2):c.646a>t (p.asn216tyr) | sqts | short qt syndrome type 3;andersen tawil syndrome | short qt syndrome type 3;andersen tawil syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +17:70175676:C:G,KCNJ2,VCV000995608,995608,NM_000891.3(KCNJ2):c.637C>G (p.Arg213Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,995608,995608,,,,unmatched,disease_model_collision,LQTS|periodic_paralysis,True,True,False,1.0,0.0, | nm_000891.3(kcnj2):c.637c>g (p.arg213gly) | lqts|periodic_paralysis | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +17:70175977:GCTCTTA:G,KCNJ2,VCV000981438,981438,NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,981438,981438,Andersen Tawil syndrome|Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome|Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome|Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,disease_model_collision,SQTS,True,True,False,-0.0,0.0,andersen tawil syndrome|andersen tawil syndrome;short qt syndrome type 3 | nm_000891.3(kcnj2):c.939_944del (p.ser314_tyr315del) | sqts | andersen tawil syndrome|andersen tawil syndrome;short qt syndrome type 3 | andersen tawil syndrome|andersen tawil syndrome;short qt syndrome type 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +17:70175756:AG:A,KCNJ2,VCV000960380,960380,NM_000891.3(KCNJ2):c.721del (p.Glu241fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,960380,960380,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,disease_model_collision,SQTS,True,True,False,-0.0,0.0,andersen tawil syndrome;short qt syndrome type 3 | nm_000891.3(kcnj2):c.721del (p.glu241fs) | sqts | andersen tawil syndrome;short qt syndrome type 3 | andersen tawil syndrome;short qt syndrome type 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +17:70170729:ACTTGTTAGCGTTTTCCTGCTCACTTCCAAATGTTTCATTTCTATTTGCCATTATCTGGAAAAATCCTGGTGCTCAGAAGGGGTAAGAGATGTTAATTGAAGCATGGTGGAAAGGGTGAGGATAAGGTCAAGGCCATTTTACTTAGCTTCCTCCTCTCTCATATTTTAATGACACTTTATTTTTTAATGTTCTTGGTCTCCATAAGAAATATTTGATCTAAACTCATGTGAATTTTGCTTTTAAAAAAAATAAAAGAACACAGTCTTTCTACATCCTTTGGATTCCTGAGTTGTAGAATCTCTGGTTAGCTGTAGCGTCCTTGTATGACTTTTGCGTAGCCTGAAAGATTGAAAACAGCTACCTGCACAGATTAAGTGTTTCAGATTTTTTTAAGTGTATATTTTTATTTACCAAACATGTCTGTTTTTCAGCGTATGCAAATGCTGAGCAGTGCTACAAGCCAAGTGTCGTTGAGTATAAATGTTAGACAGGGGGCTCACACGTAGATAGATGGGTATCCCCCTCCCCTCCCCACTTCCCCCTCCTCCTCCCTCATGTTTATTGAGCTTCTAAGAGGCTGCTTTCCTAGCAGTTGTGCTCACATAGCAACATGTGCCCAGAGCACACTCAGGCTGTTCTATATGGCGTCAGCTGGGGAATAGCTGCTCTAAACACTCATTAGCAGACCTCTCTCTCAGCCCAGTACGTTTTCTTTTGCTATCTTTATTTCCTATCCTTAGAAACTTTCTTATTTATTGCACACCATGACCATATTACAGGACACATTTACTCTCATTTGATTTTTTTTTTTAGTTATTTATAAGCCATATTGGAAGTATTACCTATATAGTCAAAGCAATTTAGATCCCCCATTTGTACCATGTGATCTCCTTGACCTTACATTTATCCATAGCTCTTTCTCCTTTAACATCTACCTAAGTTTAAAACGCTGAACTATTTTTTTCCATTGCTTATGCTTAATTTTGGCTCAGCCTATAAATAGTCTTAACATGAACAGCACCACATGTAACCTCTCAATTTCCCAAAAATACTTTCTACATCATGGGTTATGGCCTGGATAAAAATGATTATTTGTGTCCATGAAATTTACATCTAGACCCTTAAATATTTTGGCTGGAAGGGAGATTTACACATTGTTCATCAAATCAAATTTCAATTCTCTGGATTTGTATCACTTAGTGTTCTCATCTACTCCTCATTGATTGCATCTCAAACATTATTTTGAATATATGCTTGAAATAAAGTTGCATGTAAGCCCTGTTTTTTTAATGATAGCTTTTCTCAGCTGCTCACGAATTGGTAATTGCTAGTGAGAGGACCGGGCAAGGAAGTTTTCTGCTTGCTTAAAGTCGCTCAGGCATGTGGGCAGGTTAACAGTAAAAGCAATTTTTACCATGAAATATTAAGACCGTTACCCCATCAAACCTTGACAGGTTCTAGACTTTAGCTATGTAATCAGCTCCACAAAAAGTCTGCATACATATATGTGTGTGCACCTGCATACACACATAAATCTGTTTGGGGGCATATCTATTTAAAGTGGCAAAAGTTTTCTTTTTGCCAAAAAAAAAAAAAAAAAAAAAAAAAGCCCAAAACTCCTCTTTTTCTCTTTCCAGGAAGAAATGGTAAAATTTCTAAATGATGCTCCACATGTGGAACAAATTCTGTTATTAGCAATGGAAATAAGACAATAATAGTCTCTCAATACAGGCTACTTTCAAGATTCTAAATGTGGAAAGCTATTCATAGGAAGCTGGTATTGTGTGATTTGTGGAATTCAAACAAATGTCCTGGGGTCAAGATTTTTGGAAAGTCATAATTCAGTCTTTAGATTTCATATGGTTGTTATGTTTTAATCTGGAAGGAGTACAGAAATAAGTCAGAAGAAATTTGAGACTGTCTACTCATGGCCCCTAATGGTAACTCACATGGAAGGATTGTTTTGAATCATGAAAAGGGAATTTCTTGGTGTCAGCTTATAATACAAAGTTCTGAAGTCAATCAGAACTCAAAAATACAAAGCATTCATTGAATGAAGTTCTTCTCCTTTTTTTGAAACGTATACCTGCGTTTGGTGTTGTTGCTGTCTCTGTCTGTTTAGTAATGTGAGAAAACTAAGATGAAATAATTGCTTAAAAAATGCTGTCCATGTACAGGATCTAGAACTTCGAGGGGCAGGATTCTTGTTTCTTTGGTCCAAGTGCAAACTTCACAGGGAAGCAGACAAAACATTGAAGCAGGTGGAAGGTTAGGAAAGCACAGTAACTTCTTTTTATAAAGTAATTCAAAGGCACTTTCAAACTGAGCATCATTTAGGTGTCAAAAGCTGCCAAAATGTAACACACATTGCAATTTTCAAAGATGACTAATCTCAGGAAAAATGTGTTGGGGCACATTCTTGCATAATAACTTGGATAAAGAAGAAGTCAAAAGACAGTAACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCACTATTCTATTTGTAGGTGGGAATCTGACTTTCTTCCTCTAGCATTTCGTCAGCCTATCCGGTCTGCTCAGTTATATCATTTAAACAAAATAGTCTGTCTTCCGATTTCAACCTTGCCATCAGGGACTCTAATATTCTCCCGTAATGCACATGCAACTCAGTGGATATCAATGCTGCGTCCACGTGAAGTTTTCTAAACATGTCCTTTTTCCAAAAATTTTACGACAAACCTTGGAATCAGACAGTCTTTCATCTGCTTAACAGGGATCCTAGCAAGTGGGGCAGGCAGAAGAAGAGAATAAGAGAAGGGAGAGGTAGACCTGAACAATAGAATATTCTAGATCCCTGGCCAAAAAGAAGGGAAAGGGGACCTGACCTGACATTTTGGTTGAACAACTGTCACAGACAACTCTTCTATGTTTAACGACTTTATGCTTTTAAATAAAAGTTTTACAAAGCATGCTTAGGATACAAAGAAATTTAAAACCTTATAATTTAATGTAAATTATACTTATCTTTACCTGATTATGTGTTTTTGTTAGGATATATTGTCTTAGACAGTAGAATTCTTTAAGAGTGGCTTATTTTGTAATGCACAGTCTCTCTTTTCTTGCAGGACATGTTCTCTGGATGTCAGCTGAGTCATTAAAGTAACTCTGCATGTCAGTAGACAGACCTTGGTAGAACCACAAGGCTCCCAGAGACACCCATCTCTCCTCATTTTTTTGGTGTGTGTGTCTTCACCGAACATTCAAAACTGTTTCTCCAAAGCGTTTTGCAAAAACTCAGACTGTTTTCCAAAGCAGAAGCACTGGAGTCCCCAGCAGAAGCGATGGGCAGTGTGCGAACCAACCGCTACAGCATCGTCTCTTCAGAAGAAGACGGTATGAAGTTGGCCACCATGGCAGTTGCAAATGGCTTTGGGAACGGGAAGAGTAAAGTCCACACCCGACAACAGTGCAGGAGCCGCTTTGTGAAGAAAGATGGCCACTGTAATGTTCAGTTCATCAATGTGGGTGAGAAGGGGCAACGGTACCTCGCAGACATCTTCACCACGTGTGTGGACATTCGCTGGCGGTGGATGCTGGTTATCTTCTGCCTGGCTTTCGTCCTGTCATGGCTGTTTTTTGGCTGTGTGTTTTGGTTGATAGCTCTGCTCCATGGGGACCTGGATGCATCCAAAGAGGGCAAAGCTTGTGTGTCCGAGGTCAACAGCTTCACGGCTGCCTTCCTCTTCTCCATTGAGACCCAGAC:A,KCNJ2,VCV000946743,946743,NM_000891.3(KCNJ2):c.-217+1029_422del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,946743,946743,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,variation_id,disease_model_collision,SQTS,True,True,False,-0.0,0.0,short qt syndrome type 3;andersen tawil syndrome | nm_000891.3(kcnj2):c.-217+1029_422del | sqts | short qt syndrome type 3;andersen tawil syndrome | short qt syndrome type 3;andersen tawil syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +17:70175473:A:G,KCNJ2,VCV000858285,858285,NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,858285,858285,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,disease_model_collision,SQTS,True,True,False,-0.0,0.0,andersen tawil syndrome;short qt syndrome type 3 | nm_000891.3(kcnj2):c.434a>g (p.tyr145cys) | sqts | andersen tawil syndrome;short qt syndrome type 3 | andersen tawil syndrome;short qt syndrome type 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +17:70175563:T:TCATTGG,KCNJ2,VCV000801410,801410,NM_000891.3(KCNJ2):c.526_531dup (p.Ile176_Gly177dup),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,,,,,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,801410,801410,,,,unmatched,disease_model_collision,LQTS|periodic_paralysis,True,True,False,1.0,0.0, | nm_000891.3(kcnj2):c.526_531dup (p.ile176_gly177dup) | lqts|periodic_paralysis | | | unmatched | true | 1.0,False,False,False,False,False,False,False,False,False,False +17:70175935:A:G,KCNJ2,VCV000689769,689769,NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,689769,689769,"Andersen Tawil syndrome;Short QT syndrome type 3;Atrial fibrillation, familial, 9","Andersen Tawil syndrome;Short QT syndrome type 3;Atrial fibrillation, familial, 9","Andersen Tawil syndrome;Short QT syndrome type 3;Atrial fibrillation, familial, 9",variation_id,disease_model_collision,SQTS|arrhythmia,True,True,False,1.0,0.0,"andersen tawil syndrome;short qt syndrome type 3;atrial fibrillation, familial, 9 | nm_000891.3(kcnj2):c.896a>g (p.glu299gly) | sqts|arrhythmia | andersen tawil syndrome;short qt syndrome type 3;atrial fibrillation, familial, 9 | andersen tawil syndrome;short qt syndrome type 3;atrial fibrillation, familial, 9 | variation_id | true | 1.0",False,False,False,False,True,False,False,True,False,True +17:70175596:C:A,KCNJ2,VCV000652820,652820,NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,652820,652820,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,disease_model_collision,SQTS,True,True,False,-0.0,0.0,andersen tawil syndrome;short qt syndrome type 3 | nm_000891.3(kcnj2):c.557c>a (p.pro186gln) | sqts | andersen tawil syndrome;short qt syndrome type 3 | andersen tawil syndrome;short qt syndrome type 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +17:70176139:TC:T,KCNJ2,VCV000569363,569363,NM_000891.3(KCNJ2):c.1102del (p.Leu368fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,569363,569363,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,variation_id,disease_model_collision,SQTS,True,True,False,-0.0,0.0,short qt syndrome type 3;andersen tawil syndrome | nm_000891.3(kcnj2):c.1102del (p.leu368fs) | sqts | short qt syndrome type 3;andersen tawil syndrome | short qt syndrome type 3;andersen tawil syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +17:70175704:T:C,KCNJ2,VCV000546134,546134,NM_000891.3(KCNJ2):c.665T>C (p.Leu222Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,546134,546134,Andersen Tawil syndrome,Andersen Tawil syndrome,Andersen Tawil syndrome,variation_id,disease_model_collision,LQTS|periodic_paralysis,True,True,False,1.0,0.0,andersen tawil syndrome | nm_000891.3(kcnj2):c.665t>c (p.leu222ser) | lqts|periodic_paralysis | andersen tawil syndrome | andersen tawil syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +17:70175194:G:T,KCNJ2,VCV000523694,523694,NM_000891.3(KCNJ2):c.155G>T (p.Gly52Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,523694,523694,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,LQTS|periodic_paralysis,True,True,False,1.0,0.0,cardiovascular phenotype | nm_000891.3(kcnj2):c.155g>t (p.gly52val) | lqts|periodic_paralysis | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +17:70175692:G:C,KCNJ2,VCV000430545,430545,NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,430545,430545,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,variation_id,disease_model_collision,SQTS,True,True,False,-0.0,0.0,short qt syndrome type 3;andersen tawil syndrome | nm_000891.3(kcnj2):c.653g>c (p.arg218pro) | sqts | short qt syndrome type 3;andersen tawil syndrome | short qt syndrome type 3;andersen tawil syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +17:70175604:A:G,KCNJ2,VCV000429589,429589,NM_000891.3(KCNJ2):c.565A>G (p.Arg189Gly),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,429589,429589,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,disease_model_collision,SQTS,True,True,False,-0.0,0.0,andersen tawil syndrome;short qt syndrome type 3 | nm_000891.3(kcnj2):c.565a>g (p.arg189gly) | sqts | andersen tawil syndrome;short qt syndrome type 3 | andersen tawil syndrome;short qt syndrome type 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +15:73323225:CTCCGGGAGTCCCAGGCCTCCCCGGGCCCCGGGTGGCGCGGGAGATGGCTGGGCAGCCTGCGGGGAGCGGGCGCCTGGCTGCAGCGGGGTGAGCAGGGGAGAGTCGGAGGAGGACAGGGAGCCACCCAGCGCCTTGTGGAAGTGGCCAAACCCGGCTATGGTGGTGGCGGCTACGCCAGCTGATGGTGTGGGAGCCGAGGGGGAGCCACAGGCCCCGGGGGGTGGGGAGGAGCTGGATGAGGGCAGGAGTGGGCTCAGTCCAGCGGGGGCAGAGAATCCAGCCAGCTGTTGGATGTGGAAGGAGGATGAAGACGGTGTGTCCACCTGGGACGGGCTGCTGGCGGGCGAGGCGGAGCCCAGCGCAGAAGGGATCAGGGACTGCAGCCGTTTCAGGTGCCTTGGCGTCTGCCCGGCACCGAGGTTGCCCAGCCCAGATCCTGGGGGAGGGCGGAAGATGGCAGCAGGCAGGCGAGGGTGGTGGGTGAGGGCTATGGCCACAGAAGTGGTGGCAGCGGCAGCCTGCAGTGGTGCCTGGATCAGCGGGGTCCAGATGACGGGCGTGGGGGTTGGGGTGGCAGAGGCAGCAGCCTGGACGCGGTGCGCGCAGTGGGCCATCTCCCGGTCATGCTGCACAATCTGCTGGATGATCTCATTCTCCTGGTAGTTGAAGACGCCGGAGTTGAGGTCGTGCTGGACTTTGTGGAGGAGGATGGAGTTCTTCTTGCCTGGGCCACAGAACAAGAACAGGCACTCAGGGCAGAGCGGGGAAGGAGATCAGGTGCAGACCTGGCTTAGGCATAAAGGAGCCCTGCCCTCCTCCCCCAACACCCCCCACCTGCCCCGCCTGTGGCCCCTCCCCCTCACCAATGCGGTCCAGGCGGTCCAGCGCCACGGTCTCGAAGGCCCTTCGCATCATGGGGTACTCCTCCAGCACCTCATTGAAGTTGTCCACGCTCAGCGAGTAGAGGCGGCAGTAGGTGTCGGCCCTCACGCTGGCTGTGCGCCGGCCCCGGGTCAGCAGGCAGATCTCTGCCAGAGCATCAGGACTCAGGATGAGGCATGCACAGCCTGCCCAGGCCAGGGGGACTGCCCACCCTGACCTTGGCCCTGACTGCCTGGCACAGAAGCCTTGGCAGGCTCACAAGGCCCTGCCCCCAGACTGCGGCCACACTGGATGCCTCTTCCCCACCAAATGGGGGCTGGACAGACTTTCCCATCTTTGGGACATACCCTCTGCTCTGGACTGAATGTGTTCCCCCAAAATTTATATGTTGAACCCCTAATCCCAGCATGATGGTATTTGGAGGTGGGGCCTAGGGAGGTGATTAGATCACGAGGGTGGAGCCCTCGTGGATGGAATTAGTGCCTTTTTAGGAGGAGGCCGGGGAGCTGGCTCATCCTCCTTCTGCCACATGAGGACACAGCGAGAAGTCAGCAGTGCAGCCCAGAAGAGGGCCCTCACCAGCCCCAACCATGCTGGCCCCCTCAGCTCAGATGGCCAGCCTCCAGAACCATGACACATACATTTCTGCAGTTTACAAGCCACCCAGTCTGCGGCACTTTTGTTACAAGAACCCAGACTGACTAAGACACCCCTACCCTGGGCTCACAGACACCTCCCTCCAGGCTGTGGCCAAGAAGGGTGCTCACTGCCTCTGTCCCCTCGGTATCTCCCCAAACCAGCCCCTGGGAGCAGCTGCCCTGTCCCCCAGGGCCCAGGGCTGCCTCACCTCCAAAGTAGGAGCCGTCGGCCAGCTTGGTCTCCTTGTTGCCCTTGGTGAGCACGCTGACCACGCCATGCTGGATGAAGTACATCTTCTTGCCAATGGTGCCTTCCCGGATGATGTAGTCCCCAGGCTGGAAGACCTCGAAACGCAGCTTGGTCAGCATGGACGTCACGAAGTTGGGGTCCGCATTGGCAAACAGTGGCATGGAGGCCACCAGCTTCCGACAGTTAAAGTTGATGATCTCCTGCCGGACAGGGTGGATTGGGACACGGGAAGGAGGTGGTGAGGGGAGCTGGCTGCCAGGAAGGCCTGGCTCCCCTCCACGCCGGGCCGCCACACAGCTCACCTCCCGCAGGGGCTCGCTTAGCTCGCCCAGGATGCTCTCCTCGTCGAACATCTTGCCCTGGTAGCGGTGCTCGTAGTAGTCGTGGATGCGCTGCCGGGTGTCGGGCGGGAGCTTGTGAAAGGACATGTACTGCTCCACCTGCTTGTACTGAGGCCGGGAGAAGGGGGCGTCAGCTCCACCCCACCAGGGGGCGTCAGCAGCCAGCCCCACCACCTCGGCAGGCACCACATCCGGGCACCCACCCCGGGGGATTTCCTGGCTAAACTTGGTTCCTTGAGATCTGAGGTCTACAGTGTGGAAATGACCTCACTGTGCTCAAAACAACTGCCCGGGCTCCCAGCTGCTTGGCATGGAGGAGGGGCCCCCACCAGCATCTGCTCCTCGCTGTGTTCAATACTAAGGAGGTGGGTGAGGGCGGCAGGGAATGTCCAAAGCCCAGTGACAGGACATCAACTGTATCTCCAGGGAGGTCGATCACATTTCCTTGGAATGTTACACTGGGGACAGGGAGGCCTCACCGACTCTGCGGGGAAAGAAGCTGTTTCCTCCCAGCAGTGACAACTGGCACAGTCAGGAGGCAAGGGTGCGATGGATCAGAACGCTCAGAGGCAGAAGCAAGGATGCCTGGCTGCTCGATGCTATGAATCCAAACGTGGCCTCAGCTGAGACCCCGGGTCATTTCGTTGAGAGCAACTCCAGGTAAGGGAAAAGCAGGGTAGACTAATTTGAGGGGACCTTCAAATAGAGGCTCGGGTACAAAAGATTTGTGAGCCTCAGACCCTGGGGCTCAAACAAATAAGAAACGATCCTGCCCGCCCTCACTGAGAGGAGTGGACATTGCTCCCACCATCCTAGATTGTGGGTGGACAGTGGGATTCCCAAGAGCAGGATGAGGGATGGGAGGTATTGATTAGGCAACAACACAGACTCCTCCCGGATGGGAAGTAGAGGAAGTCCCTATCACCCCAGCAGCAATCAGAAACGGGGCAGCCTGTTTGCATCTATGTGTGCTCCAAAGAGGTGGGAACGCACAACTGCTGCACAGAAACACCCACGGGCAAATGAGGGCTGAGAAATGACATTTCCTAAACTTCTTCCAGCCACCCTGGCCTCTGACTGCTCCAAGTTATGCAAAGTCCCAGGGGACAGTGACTTCCTGGCTGGTTACAGAGATGGAGGCAGCTGGAAAACCTGGAGCTGTGTTTTAGAGAGTCCCTCCCCTGACCCCCAGAGAACAGGTAGGGGTAGGGAGGCAGGGTCTGGACATGGGGCAGGAGTTAAAAGGTTGAAGTGGTCCAGGTGAGAGACAGACGTGGGGATGGAGAGGAGGGAAGACATTTAAGAGAAATTTATTGGGCAGACTTAGATATTAGCCAAAGGACAAACATTTTAAAGTCTCAAATGAAAAGCCACAGACGCCTTGACTCTGGCCCTAAAATAAACTCTGATGCATTTTCTTTTCTTTTTTTCTTTTTATTTATTTATTTATTTATTTATTTTTTTTGTTAAGACAGGGTCTCGTTGTGTTGCCTAGACTGGAGTGCAGTGATATGAACACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCGATTCTCCCATCTCAGCCTCCTAAACAGCTGGCACTATAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTTGCCACGTTGCCCAGGCTGCTCTTGAACTCCTGGGCTCAAGAAATCAGCTCGCTTCAGCCTCTCAAAGTGCTGGGATTGCAGGCATGAGCCATCATGCCCAGCCTCCCAGACGCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGGGTGCAGTGGTGCAATCTTAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTGAGTAGCTGGGACTACAGGTGTGCACCACCACGCCCAGCTAATTTTTTTTTTACTTTTAGTAGGGATGAAGTT:C,HCN4,VCV004755562,4755562,NM_005477.3(HCN4):c.1591-1861_2867del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4755562,4755562,"Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant",variation_id,unanchored_assertion_state,conduction,False,True,False,-0.0,0.0,"sick sinus syndrome 2, autosomal dominant | nm_005477.3(hcn4):c.1591-1861_2867del | conduction | sick sinus syndrome 2, autosomal dominant | sick sinus syndrome 2, autosomal dominant | variation_id | false | -0.0",False,False,False,False,True,False,False,False,False,True +15:73329730:C:T,HCN4,VCV002636206,2636206,NM_005477.3(HCN4):c.1433G>A (p.Cys478Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2636206,2636206,HCN4-related disorder,HCN4-related disorder,HCN4-related disorder,variation_id,disease_model_collision,arrhythmia|bradyarrhythmia,True,True,False,1.0,0.0,hcn4-related disorder | nm_005477.3(hcn4):c.1433g>a (p.cys478tyr) | arrhythmia|bradyarrhythmia | hcn4-related disorder | hcn4-related disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,False,False,False +15:73323574:G:GCGGA,HCN4,VCV002028837,2028837,NM_005477.3(HCN4):c.2515_2518dup (p.Ala840fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2028837,2028837,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,unanchored_assertion_state,Brugada,False,True,False,-0.0,0.0,brugada syndrome 8 | nm_005477.3(hcn4):c.2515_2518dup (p.ala840fs) | brugada | brugada syndrome 8 | brugada syndrome 8 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +15:73325193:C:G,HCN4,VCV001697968,1697968,NM_005477.3(HCN4):c.1740G>C (p.Glu580Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1697968,1697968,Left ventricular noncompaction cardiomyopathy,Left ventricular noncompaction cardiomyopathy,Left ventricular noncompaction cardiomyopathy,variation_id,unanchored_assertion_state,cardiomyopathy_overlap,False,True,False,-0.0,0.0,left ventricular noncompaction cardiomyopathy | nm_005477.3(hcn4):c.1740g>c (p.glu580asp) | cardiomyopathy_overlap | left ventricular noncompaction cardiomyopathy | left ventricular noncompaction cardiomyopathy | variation_id | false | -0.0,False,False,False,False,False,False,True,False,False,True +15:73329718:C:T,HCN4,VCV001675065,1675065,NM_005477.3(HCN4):c.1445G>A (p.Gly482Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1675065,1675065,Left ventricular noncompaction cardiomyopathy,Left ventricular noncompaction cardiomyopathy,Left ventricular noncompaction cardiomyopathy,variation_id,unanchored_assertion_state,cardiomyopathy_overlap,False,True,False,-0.0,0.0,left ventricular noncompaction cardiomyopathy | nm_005477.3(hcn4):c.1445g>a (p.gly482glu) | cardiomyopathy_overlap | left ventricular noncompaction cardiomyopathy | left ventricular noncompaction cardiomyopathy | variation_id | false | -0.0,False,False,False,False,False,False,True,False,False,True +15:73343533:T:C,HCN4,VCV001359536,1359536,NM_005477.3(HCN4):c.1061A>G (p.Tyr354Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1359536,1359536,Brugada syndrome 8|HCN4-related disorder,Brugada syndrome 8|HCN4-related disorder,Brugada syndrome 8|HCN4-related disorder,variation_id,unanchored_assertion_state,Brugada,False,True,False,-0.0,0.0,brugada syndrome 8|hcn4-related disorder | nm_005477.3(hcn4):c.1061a>g (p.tyr354cys) | brugada | brugada syndrome 8|hcn4-related disorder | brugada syndrome 8|hcn4-related disorder | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +15:73329692:C:G,HCN4,VCV000666148,666148,NM_005477.3(HCN4):c.1471G>C (p.Asp491His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,666148,666148,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,unanchored_assertion_state,Brugada,False,True,False,-0.0,0.0,brugada syndrome 8 | nm_005477.3(hcn4):c.1471g>c (p.asp491his) | brugada | brugada syndrome 8 | brugada syndrome 8 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +15:73324088:C:T,HCN4,VCV000470654,470654,NM_005477.3(HCN4):c.2143+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,470654,470654,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,unanchored_assertion_state,Brugada,False,True,False,-0.0,0.0,brugada syndrome 8 | nm_005477.3(hcn4):c.2143+1g>a | brugada | brugada syndrome 8 | brugada syndrome 8 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +15:73332261:G:C,HCN4,VCV000374861,374861,NM_005477.3(HCN4):c.1241C>G (p.Ala414Gly),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,374861,374861,"Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant",variation_id,unanchored_assertion_state,conduction,False,True,False,-0.0,0.0,"sick sinus syndrome 2, autosomal dominant | nm_005477.3(hcn4):c.1241c>g (p.ala414gly) | conduction | sick sinus syndrome 2, autosomal dominant | sick sinus syndrome 2, autosomal dominant | variation_id | false | -0.0",False,False,False,False,True,False,False,False,False,True +15:73329722:A:G,HCN4,VCV000374860,374860,NM_005477.3(HCN4):c.1441T>C (p.Tyr481His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,374860,374860,"Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8||Cardiovascular phenotype","Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8||Cardiovascular phenotype","Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8||Cardiovascular phenotype",variation_id,disease_model_collision,Brugada|conduction,True,True,False,1.0,0.0,"sick sinus syndrome 2, autosomal dominant|brugada syndrome 8||cardiovascular phenotype | nm_005477.3(hcn4):c.1441t>c (p.tyr481his) | brugada|conduction | sick sinus syndrome 2, autosomal dominant|brugada syndrome 8||cardiovascular phenotype | sick sinus syndrome 2, autosomal dominant|brugada syndrome 8||cardiovascular phenotype | variation_id | true | 1.0",False,False,False,False,True,False,False,True,False,True +15:73329719:C:G,HCN4,VCV000374859,374859,NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,374859,374859,"Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8","Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8","Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8",variation_id,disease_model_collision,Brugada|conduction,True,True,False,1.0,0.0,"sick sinus syndrome 2, autosomal dominant|brugada syndrome 8 | nm_005477.3(hcn4):c.1444g>c (p.gly482arg) | brugada|conduction | sick sinus syndrome 2, autosomal dominant|brugada syndrome 8 | sick sinus syndrome 2, autosomal dominant|brugada syndrome 8 | variation_id | true | 1.0",False,False,False,False,True,False,False,True,False,True +15:73325000:T:TGGTGAGCACGCTG,HCN4,VCV000374858,374858,NM_005477.3(HCN4):c.1920_1932dup (p.Lys645fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,374858,374858,"Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant",variation_id,unanchored_assertion_state,conduction,False,True,False,-0.0,0.0,"sick sinus syndrome 2, autosomal dominant | nm_005477.3(hcn4):c.1920_1932dup (p.lys645fs) | conduction | sick sinus syndrome 2, autosomal dominant | sick sinus syndrome 2, autosomal dominant | variation_id | false | -0.0",False,False,False,False,True,False,False,False,False,True +12:2653892:G:A,CACNA1C,VCV004689845,4689845,NM_000719.7(CACNA1C):c.4132G>A (p.Gly1378Arg),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4689845,4689845,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome | nm_000719.7(cacna1c):c.4132g>a (p.gly1378arg) | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +12:2457652:GC:G,CACNA1C,VCV004613766,4613766,NM_000719.7(CACNA1C):c.704del (p.Ala235fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4613766,4613766,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,cardiovascular phenotype | nm_000719.7(cacna1c):c.704del (p.ala235fs) | brugada|lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2582847:C:T,CACNA1C,VCV004536255,4536255,NM_000719.7(CACNA1C):c.2129C>T (p.Ser710Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4536255,4536255,,,,unmatched,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0, | nm_000719.7(cacna1c):c.2129c>t (p.ser710leu) | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2567737:C:G,CACNA1C,VCV004531394,4531394,NM_000719.7(CACNA1C):c.1838C>G (p.Pro613Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531394,4531394,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.1838c>g (p.pro613arg) | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2449015:G:C,CACNA1C,VCV004531392,4531392,NM_000719.7(CACNA1C):c.517G>C (p.Glu173Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531392,4531392,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.517g>c (p.glu173gln) | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2666696:A:G,CACNA1C,VCV004530641,4530641,NM_000719.7(CACNA1C):c.4537A>G (p.Lys1513Glu),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4530641,4530641,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.4537a>g (p.lys1513glu) | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2567600:C:G,CACNA1C,VCV004292479,4292479,NM_000719.7(CACNA1C):c.1701C>G (p.Phe567Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4292479,4292479,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.1701c>g (p.phe567leu) | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2651688:C:T,CACNA1C,VCV004278773,4278773,NM_000719.7(CACNA1C):c.3994C>T (p.Arg1332Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4278773,4278773,,,,unmatched,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0, | nm_000719.7(cacna1c):c.3994c>t (p.arg1332trp) | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2597290:G:T,CACNA1C,VCV004086502,4086502,NM_000719.7(CACNA1C):c.2853+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4086502,4086502,,,,unmatched,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0, | nm_000719.7(cacna1c):c.2853+1g>t | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2486121:A:T,CACNA1C,VCV003897582,3897582,NM_000719.7(CACNA1C):c.775A>T (p.Asn259Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3897582,3897582,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.775a>t (p.asn259tyr) | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2593249:G:A,CACNA1C,VCV003894932,3894932,NM_000719.7(CACNA1C):c.2567G>A (p.Gly856Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894932,3894932,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,cardiovascular phenotype | nm_000719.7(cacna1c):c.2567g>a (p.gly856asp) | brugada|lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2582943:G:C,CACNA1C,VCV003775665,3775665,NM_000719.7(CACNA1C):c.2224+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3775665,3775665,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.2224+1g>c | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2512930:G:C,CACNA1C,VCV003718454,3718454,NM_000719.7(CACNA1C):c.1336G>C (p.Asp446His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3718454,3718454,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome | nm_000719.7(cacna1c):c.1336g>c (p.asp446his) | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +12:2665673:TA:T,CACNA1C,VCV003600410,3600410,NM_000719.7(CACNA1C):c.4495del (p.Arg1499fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3600410,3600410,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.4495del (p.arg1499fs) | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2605112:C:T,CACNA1C,VCV003573697,3573697,NM_000719.7(CACNA1C):c.2992C>T (p.Arg998Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3573697,3573697,,,,unmatched,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0, | nm_000719.7(cacna1c):c.2992c>t (p.arg998ter) | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2608531:ACT:A,CACNA1C,VCV003483968,3483968,NM_000719.7(CACNA1C):c.3379_3380del (p.Ser1127fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3483968,3483968,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,cardiovascular phenotype | nm_000719.7(cacna1c):c.3379_3380del (p.ser1127fs) | brugada|lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2120345:TACTG:T,CACNA1C,VCV003483966,3483966,NM_000719.7(CACNA1C):c.396_399del (p.Thr133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3483966,3483966,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,cardiovascular phenotype | nm_000719.7(cacna1c):c.396_399del (p.thr133fs) | brugada|lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2610590:TC:T,CACNA1C,VCV003393691,3393691,NM_000719.7(CACNA1C):c.3612del (p.Lys1205fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3393691,3393691,,,,unmatched,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0, | nm_000719.7(cacna1c):c.3612del (p.lys1205fs) | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2486140:T:A,CACNA1C,VCV003392514,3392514,NM_000719.7(CACNA1C):c.794T>A (p.Met265Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3392514,3392514,"Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8","Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8","Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"timothy syndrome;brugada syndrome 3;neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;long qt syndrome 8 | nm_000719.7(cacna1c):c.794t>a (p.met265lys) | brugada|lqts | timothy syndrome;brugada syndrome 3;neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;long qt syndrome 8 | timothy syndrome;brugada syndrome 3;neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;long qt syndrome 8 | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2608641:G:A,CACNA1C,VCV003382973,3382973,NM_000719.7(CACNA1C):c.3487G>A (p.Gly1163Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3382973,3382973,Timothy syndrome;Brugada syndrome 3;Long QT syndrome 8,Timothy syndrome;Brugada syndrome 3;Long QT syndrome 8,Timothy syndrome;Brugada syndrome 3;Long QT syndrome 8,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,timothy syndrome;brugada syndrome 3;long qt syndrome 8 | nm_000719.7(cacna1c):c.3487g>a (p.gly1163ser) | brugada|lqts | timothy syndrome;brugada syndrome 3;long qt syndrome 8 | timothy syndrome;brugada syndrome 3;long qt syndrome 8 | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2567731:T:C,CACNA1C,VCV003382740,3382740,NM_000719.7(CACNA1C):c.1832T>C (p.Met611Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3382740,3382740,"Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8","Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8","Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"timothy syndrome;brugada syndrome 3;neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;long qt syndrome 8 | nm_000719.7(cacna1c):c.1832t>c (p.met611thr) | brugada|lqts | timothy syndrome;brugada syndrome 3;neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;long qt syndrome 8 | timothy syndrome;brugada syndrome 3;neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;long qt syndrome 8 | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2653855:CCTGAT:C,CACNA1C,VCV003377227,3377227,NM_000719.7(CACNA1C):c.4097_4101del (p.Leu1366fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3377227,3377227,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.4097_4101del (p.leu1366fs) | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2685745:C:A,CACNA1C,VCV003375805,3375805,NM_000719.7(CACNA1C):c.5583C>A (p.Tyr1861Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3375805,3375805,,,,unmatched,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0, | nm_000719.7(cacna1c):c.5583c>a (p.tyr1861ter) | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2664838:G:A,CACNA1C,VCV003370332,3370332,NM_000719.7(CACNA1C):c.4246G>A (p.Glu1416Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3370332,3370332,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.4246g>a (p.glu1416lys) | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2448974:A:G,CACNA1C,VCV003252305,3252305,NM_000719.7(CACNA1C):c.478-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3252305,3252305,,,,unmatched,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0, | nm_000719.7(cacna1c):c.478-2a>g | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2595960:T:G,CACNA1C,VCV003069192,3069192,NM_000719.7(CACNA1C):c.2750T>G (p.Leu917Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3069192,3069192,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.2750t>g (p.leu917arg) | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2486134:A:T,CACNA1C,VCV003066281,3066281,NM_000719.7(CACNA1C):c.788A>T (p.Lys263Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3066281,3066281,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,timothy syndrome | nm_000719.7(cacna1c):c.788a>t (p.lys263met) | brugada|lqts | timothy syndrome | timothy syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2457680:C:G,CACNA1C,VCV003027509,3027509,NM_000719.7(CACNA1C):c.731C>G (p.Pro244Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3027509,3027509,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.731c>g (p.pro244arg) | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2677138:C:T,CACNA1C,VCV002921274,2921274,NM_000719.7(CACNA1C):c.4873C>T (p.Gln1625Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2921274,2921274,,,,unmatched,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0, | nm_000719.7(cacna1c):c.4873c>t (p.gln1625ter) | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2688546:C:T,CACNA1C,VCV002626971,2626971,NM_000719.7(CACNA1C):c.5884C>T (p.Arg1962Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2626971,2626971,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,timothy syndrome | nm_000719.7(cacna1c):c.5884c>t (p.arg1962ter) | brugada|lqts | timothy syndrome | timothy syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2585498:T:G,CACNA1C,VCV002626927,2626927,NM_000719.7(CACNA1C):c.2460+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2626927,2626927,CACNA1C-related disorder,CACNA1C-related disorder,CACNA1C-related disorder,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,cacna1c-related disorder | nm_000719.7(cacna1c):c.2460+2t>g | brugada|lqts | cacna1c-related disorder | cacna1c-related disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2504884:G:GT,CACNA1C,VCV002584438,2584438,NM_000719.7(CACNA1C):c.1158dup (p.Thr387fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2584438,2584438,CACNA1C-related disorder,CACNA1C-related disorder,CACNA1C-related disorder,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,cacna1c-related disorder | nm_000719.7(cacna1c):c.1158dup (p.thr387fs) | brugada|lqts | cacna1c-related disorder | cacna1c-related disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2664824:G:A,CACNA1C,VCV002578446,2578446,NM_000719.7(CACNA1C):c.4233-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2578446,2578446,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.4233-1g>a | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2486109:C:T,CACNA1C,VCV002577479,2577479,NM_000719.7(CACNA1C):c.763C>T (p.Gln255Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2577479,2577479,Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | nm_000719.7(cacna1c):c.763c>t (p.gln255ter) | brugada|lqts | neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2653860:T:C,CACNA1C,VCV002575833,2575833,NM_000719.7(CACNA1C):c.4100T>C (p.Ile1367Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575833,2575833,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome | nm_000719.7(cacna1c):c.4100t>c (p.ile1367thr) | lqts | long qt syndrome | long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +12:2120351:CTA:C,CACNA1C,VCV002506866,2506866,NM_000719.7(CACNA1C):c.400_401del (p.Ile134fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2506866,2506866,,,,unmatched,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0, | nm_000719.7(cacna1c):c.400_401del (p.ile134fs) | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2486161:C:T,CACNA1C,VCV002504611,2504611,NM_000719.7(CACNA1C):c.815C>T (p.Ala272Val),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2504611,2504611,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.815c>t (p.ala272val) | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2512827:G:C,CACNA1C,VCV002504609,2504609,NM_000719.7(CACNA1C):c.1233G>C (p.Glu411Asp),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2504609,2504609,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.1233g>c (p.glu411asp) | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2582832:G:A,CACNA1C,VCV002501348,2501348,NM_000719.7(CACNA1C):c.2114G>A (p.Gly705Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2501348,2501348,,,,unmatched,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0, | nm_000719.7(cacna1c):c.2114g>a (p.gly705glu) | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2608677:CAGGA:C,CACNA1C,VCV002452672,2452672,NM_000719.7(CACNA1C):c.3524_3527del (p.Gln1175fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2452672,2452672,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,cardiovascular phenotype | nm_000719.7(cacna1c):c.3524_3527del (p.gln1175fs) | brugada|lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2679753:GC:G,CACNA1C,VCV002251969,2251969,NM_000719.7(CACNA1C):c.5403del (p.Ile1802fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2251969,2251969,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,cardiovascular phenotype | nm_000719.7(cacna1c):c.5403del (p.ile1802fs) | brugada|lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2486116:T:C,CACNA1C,VCV001803055,1803055,NM_000719.7(CACNA1C):c.770T>C (p.Val257Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1803055,1803055,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.770t>c (p.val257ala) | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2677772:C:T,CACNA1C,VCV001744618,1744618,NM_000719.7(CACNA1C):c.4996C>T (p.Arg1666Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1744618,1744618,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,cardiovascular phenotype | nm_000719.7(cacna1c):c.4996c>t (p.arg1666ter) | brugada|lqts | cardiovascular phenotype | cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2688554:G:GC,CACNA1C,VCV001712194,1712194,NM_000719.7(CACNA1C):c.5897dup (p.Gln1967fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1712194,1712194,,,,unmatched,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0, | nm_000719.7(cacna1c):c.5897dup (p.gln1967fs) | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2655228:C:G,CACNA1C,VCV001705745,1705745,NM_000719.7(CACNA1C):c.4222C>G (p.Leu1408Val),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1705745,1705745,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.4222c>g (p.leu1408val) | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2581663:C:T,CACNA1C,VCV001705744,1705744,NM_000719.7(CACNA1C):c.1969C>T (p.Leu657Phe),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1705744,1705744,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.1969c>t (p.leu657phe) | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2665599:G:C,CACNA1C,VCV001700075,1700075,NM_000719.7(CACNA1C):c.4417G>C (p.Ala1473Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1700075,1700075,Neurodevelopmental delay|CACNA1C-related disorder,Neurodevelopmental delay|CACNA1C-related disorder,Neurodevelopmental delay|CACNA1C-related disorder,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,neurodevelopmental delay|cacna1c-related disorder | nm_000719.7(cacna1c):c.4417g>c (p.ala1473pro) | brugada|lqts | neurodevelopmental delay|cacna1c-related disorder | neurodevelopmental delay|cacna1c-related disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2634334:T:G,CACNA1C,VCV001699326,1699326,NM_000719.7(CACNA1C):c.3866T>G (p.Leu1289Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1699326,1699326,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.3866t>g (p.leu1289trp) | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2504886:T:TA,CACNA1C,VCV001699036,1699036,NM_000719.7(CACNA1C):c.1159dup (p.Thr387fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1699036,1699036,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.1159dup (p.thr387fs) | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2610588:C:G,CACNA1C,VCV001695801,1695801,NM_000719.7(CACNA1C):c.3606C>G (p.Tyr1202Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1695801,1695801,,,,unmatched,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0, | nm_000719.7(cacna1c):c.3606c>g (p.tyr1202ter) | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2567752:T:G,CACNA1C,VCV001685597,1685597,NM_000719.7(CACNA1C):c.1853T>G (p.Val618Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1685597,1685597,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,timothy syndrome | nm_000719.7(cacna1c):c.1853t>g (p.val618gly) | brugada|lqts | timothy syndrome | timothy syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2449093:G:A,CACNA1C,VCV001685596,1685596,NM_000719.7(CACNA1C):c.595G>A (p.Asp199Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1685596,1685596,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | nm_000719.7(cacna1c):c.595g>a (p.asp199asn) | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2504535:A:G,CACNA1C,VCV001344837,1344837,NM_001167623.2(CACNA1C):c.1213A>G (p.Ser405Gly),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1344837,1344837,Seizure,Seizure,Seizure,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,seizure | nm_001167623.2(cacna1c):c.1213a>g (p.ser405gly) | brugada|lqts | seizure | seizure | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2448994:T:C,CACNA1C,VCV001325838,1325838,NM_000719.7(CACNA1C):c.496T>C (p.Phe166Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1325838,1325838,Neurodevelopmental delay,Neurodevelopmental delay,Neurodevelopmental delay,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,neurodevelopmental delay | nm_000719.7(cacna1c):c.496t>c (p.phe166leu) | brugada|lqts | neurodevelopmental delay | neurodevelopmental delay | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2677868:G:A,CACNA1C,VCV001313855,1313855,NM_000719.7(CACNA1C):c.5091+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1313855,1313855,,,,unmatched,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0, | nm_000719.7(cacna1c):c.5091+1g>a | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2608654:T:C,CACNA1C,VCV001309258,1309258,NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1309258,1309258,Timothy syndrome|Long QT syndrome,Timothy syndrome|Long QT syndrome,Timothy syndrome|Long QT syndrome,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,timothy syndrome|long qt syndrome | nm_000719.7(cacna1c):c.3500t>c (p.val1167ala) | lqts | timothy syndrome|long qt syndrome | timothy syndrome|long qt syndrome | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +12:2608657:C:A,CACNA1C,VCV001303511,1303511,NM_000719.7(CACNA1C):c.3503C>A (p.Thr1168Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1303511,1303511,,,,unmatched,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0, | nm_000719.7(cacna1c):c.3503c>a (p.thr1168asn) | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2504529:G:A,CACNA1C,VCV001302971,1302971,NM_001167623.2(CACNA1C):c.1207G>A (p.Val403Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1302971,1302971,,,,unmatched,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0, | nm_001167623.2(cacna1c):c.1207g>a (p.val403met) | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2605121:C:T,CACNA1C,VCV001302480,1302480,NM_000719.7(CACNA1C):c.3001C>T (p.Arg1001Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1302480,1302480,,,,unmatched,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0, | nm_000719.7(cacna1c):c.3001c>t (p.arg1001ter) | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2651679:C:T,CACNA1C,VCV001214422,1214422,NM_000719.7(CACNA1C):c.3985C>T (p.Arg1329Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1214422,1214422,Hypotonia,Hypotonia,Hypotonia,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,hypotonia | nm_000719.7(cacna1c):c.3985c>t (p.arg1329cys) | brugada|lqts | hypotonia | hypotonia | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2653847:G:T,CACNA1C,VCV001164022,1164022,NM_000719.7(CACNA1C):c.4087G>T (p.Val1363Leu),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1164022,1164022,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,timothy syndrome | nm_000719.7(cacna1c):c.4087g>t (p.val1363leu) | brugada|lqts | timothy syndrome | timothy syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2581667:T:C,CACNA1C,VCV000981247,981247,NM_000719.7(CACNA1C):c.1973T>C (p.Leu658Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,981247,981247,Intellectual disability,Intellectual disability,Intellectual disability,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,intellectual disability | nm_000719.7(cacna1c):c.1973t>c (p.leu658pro) | brugada|lqts | intellectual disability | intellectual disability | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2512849:G:C,CACNA1C,VCV000978295,978295,NM_000719.7(CACNA1C):c.1255G>C (p.Gly419Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,978295,978295,,,,unmatched,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0, | nm_000719.7(cacna1c):c.1255g>c (p.gly419arg) | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2053592:TC:T,CACNA1C,VCV000978276,978276,NM_000719.7(CACNA1C):c.32del (p.Pro11fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,978276,978276,Conduction disorder of the heart,Conduction disorder of the heart,Conduction disorder of the heart,variation_id,disease_model_collision,conduction,True,True,False,-0.0,0.0,conduction disorder of the heart | nm_000719.7(cacna1c):c.32del (p.pro11fs) | conduction | conduction disorder of the heart | conduction disorder of the heart | variation_id | true | -0.0,False,False,False,False,False,False,False,False,False,False +12:2457671:T:C,CACNA1C,VCV000973262,973262,NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,973262,973262,Timothy syndrome;Brugada syndrome 3,Timothy syndrome;Brugada syndrome 3,Timothy syndrome;Brugada syndrome 3,variation_id,disease_model_collision,Brugada,True,True,False,-0.0,0.0,timothy syndrome;brugada syndrome 3 | nm_000719.7(cacna1c):c.722t>c (p.val241ala) | brugada | timothy syndrome;brugada syndrome 3 | timothy syndrome;brugada syndrome 3 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +12:2493386:G:A,CACNA1C,VCV000802809,802809,NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,802809,802809,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,timothy syndrome | nm_000719.7(cacna1c):c.1113g>a (p.trp371ter) | brugada|lqts | timothy syndrome | timothy syndrome | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2665607:C:G,CACNA1C,VCV000633648,633648,NM_000719.7(CACNA1C):c.4425C>G (p.Ile1475Met),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,633648,633648,Long QT syndrome 8,Long QT syndrome 8,Long QT syndrome 8,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 8 | nm_000719.7(cacna1c):c.4425c>g (p.ile1475met) | lqts | long qt syndrome 8 | long qt syndrome 8 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +12:2567644:C:A,CACNA1C,VCV000633647,633647,NM_000719.7(CACNA1C):c.1745C>A (p.Ala582Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,633647,633647,Long QT syndrome 8,Long QT syndrome 8,Long QT syndrome 8,variation_id,disease_model_collision,LQTS,True,True,False,-0.0,0.0,long qt syndrome 8 | nm_000719.7(cacna1c):c.1745c>a (p.ala582asp) | lqts | long qt syndrome 8 | long qt syndrome 8 | variation_id | true | -0.0,False,False,False,False,False,False,False,True,False,True +12:2653847:G:C,CACNA1C,VCV000522828,522828,NM_000719.7(CACNA1C):c.4087G>C (p.Val1363Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,522828,522828,CACNA1C-related disorder,CACNA1C-related disorder,CACNA1C-related disorder,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,cacna1c-related disorder | nm_000719.7(cacna1c):c.4087g>c (p.val1363leu) | brugada|lqts | cacna1c-related disorder | cacna1c-related disorder | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2566522:A:G,CACNA1C,VCV000521136,521136,NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,521136,521136,Timothy syndrome|Cardiovascular phenotype,Timothy syndrome|Cardiovascular phenotype,Timothy syndrome|Cardiovascular phenotype,variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,timothy syndrome|cardiovascular phenotype | nm_000719.7(cacna1c):c.1609a>g (p.asn537asp) | brugada|lqts | timothy syndrome|cardiovascular phenotype | timothy syndrome|cardiovascular phenotype | variation_id | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2605097:G:C,CACNA1C,VCV000450908,450908,NM_000719.7(CACNA1C):c.2977G>C (p.Val993Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,450908,450908,,,,unmatched,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0, | nm_000719.7(cacna1c):c.2977g>c (p.val993leu) | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +12:2653847:G:A,CACNA1C,VCV000450063,450063,NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,450063,450063,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures|CACNA1C-related disorder","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures|CACNA1C-related disorder","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures|CACNA1C-related disorder",variation_id,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures|cacna1c-related disorder | nm_000719.7(cacna1c):c.4087g>a (p.val1363met) | brugada|lqts | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures|cacna1c-related disorder | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures|cacna1c-related disorder | variation_id | true | 1.0",False,False,False,False,False,False,False,True,False,True +12:2610700:G:GA,CACNA1C,VCV000432248,432248,NM_000719.7(CACNA1C):c.3717+1_3717+2insA,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.7307692307692307,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,432248,432248,,,,unmatched,disease_model_collision,Brugada|LQTS,True,True,False,1.0,0.0, | nm_000719.7(cacna1c):c.3717+1_3717+2insa | brugada|lqts | | | unmatched | true | 1.0,False,False,False,False,False,False,False,True,False,True +7:82167142:AAGAAATATTGCACAGATGCACATTGTTAAATACCTTAAAAGATAAAAGAATTATAAAGTTTAAAAGAAGGACCTTTTGAAAGATGATAAAATTTATCTTCAAATTAACCATTTTTAAATGTTTGGTTAAAATATTGAGAAAATTTACAATTGTTTTGTGTGCTTTCACAAAACAAGAGATTTAATGTTAATGATTTATAAGTTTCAACCACGAATTTGAACTGTATTCTGCTCTGGTCTTGAAGGATTTATTTAACCTTGCTGTATCTGTGCACTAAAGCACCACCTAGTTTATTAGGAACAAAAAAAAAGCTGAGAGGAATGTATTATTTTTGTACTTTTTACTTATTTGAGTCTTAAGATTAGATAGTCTTCATTGAGGTTCTATTCTCCAAGCACAAAAACGACCACTATCTAAACCTTCTATCACTCTATGGCATTTCAAAGGGAAGGGCTATCATAAAGACTATGTATGGCTGCCAAGGTTAGATATGGGAAATAGCAATTCTCAATGTGCAAACTGTGACAGACCTGTGTCCTGTCAACATCATTCACGGTCCTTCAGGAAGGATGCTCAGGAAATGAGTTGACAGGACTCTAAGTGGTCTAACTTGTTTTCCCTTTAACAGTCTCTTTTGATGTCAATCAGTATGTCAACAGGCCCTAAATAAATTGTGAGGTAACCAAGGGGGAAATTAGGAACAGAATTTCTTCAAGAATTCTCCCACATGGTGACCACCATTTGCTAAGAATTCCTAATACTTACTGGGCAAATAATTCATTTTCTATTTCACCATAGAAGATTTAGTAATGGCTTTTGTATTATTGTGGGACTGATTTGTCCTCTTGCACAATGTTTTTTTAGCAGTACTGCTACTTGGATAGAGGCACCAAAAAAGTAGAAAATAAGGGTTACATTTCAAGATAATTTTTTTCACTTTTTGACATCTCTAAGAATACAGCATACAATTGCTGATGCATCATAATTTAAGTGGCTTTTTTGGTGGGGGCTTGGGGGAGATGAGGTCTCTCTCTGTTGCCCAGGCTGGAGTAGTACAGTGTCATGATCTTGGCTCACTGCACCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTACCAAGTAGCTGGGATTACAGGCATGCACCACCACGCACAGCTAATTTTTGTATTTTTAGTGGAGATAGGGTTTCTCCATGTTGACAAGGCTGGTTTTGAACTTCTGGCCTAAAGTAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCATGCCCGGCCAAGTGGCTTTTTCTTAGAAATAACTAAAATAAATAGAATGACTAAGTGCCTTACAATTGATGATTTACATTCAATAAAATATGGTAATAGCAAACTTGAATTTAGAGTTTTTGTATTGTGTTTGTGTTGTGGTTACCCATTACCTCAATATAGAAAACAAAATAATTGCCAAATGTTAGTGTTAATGAGCCCAATATTAAAGAGTTCACAATGTCTAGGAAATGAAACCTTATGTCTAGAAATTAATAAATAATAGTTAAATGAAACAACAATGATATAGGCATTACTACAACCCTACTTGCCAAGTTATTTTTTTCCACATTATTGCTCTTTAGAAAAGTGAAAACAACATACAACTAATAAATGACTACTTAAAATACTACCAAATGAATTTAAGGCAAAGAAAAAGGGTGCTTTGAACAGGGAATGTATAATCTATATATTTCAGAGGCTGAGTTTGTGTGTCTGTTTTGAGTTCTCCGAATTACTGAAGATTCAAACTAAAACAGCACCAAGGGTATTATATCTATGCTAGGCAGAATACATGATCTAGCCATACATCTATTATGACTTTACACTGCTTTTACCATGCACGCTTTATGTTGTGGGACATAAGGGAAGAGTAATTTATATTTAATGTTGTTAATCAAACATATATTTAGCTAGATTTGTTTTGCTGCTTTTTCCCTATTTGCAAAAACAAAAAAAATCGTTTTTATCTAAAAGCAACTAAGTATATTGTAAGCCTCTTCATTCACTAGATGAGCTTACAGTTTGCTCGATGCTCTAGGAGCTTATGTTTTTAGCTTAATCATTGATTTTTTCCTTAATATATCATGGATAGCAAATTGATCTTTATTAACCTGTGTATGATAAAGGTTGTAGACAAAGCCAATACCTACATAATATTAATACCAATCAAGTTAAGTGATATGATCAGTTCAGTAGAGAATCAAACAAACTGGCAGTTGTCAAATAGAGTCTCTCATTAGTAGACTGTTTAAAATATATAAATAAGTGATAAACAGTAAAAATAAATAATATCACAAGTATCAAGAATGGAAGACTATTATATACATGAATTAAATATCATTTAGTGCATTTTCCTTTGATATTCAACATAATCATAGAAACACAAAGAAGTGCTAATTCTTAAACCTCAGTTTAGTGTCTACTGAAGCACAACTACATACCTTCAAATTTGAGACTTTTGCTTTGCAAAGAGTACAATTAAGCTGTCGCTCACATTCTAAACCTATTTTAAATGTGGGAAGGTAGAGGGCAGTTGTTTACATCCCCAAAATGAGTTGTCTGGAAGTTTTCTGTGATCAGAAATTATAAAGATTTTCTTTCACTACAACTGTAATCACTCAAGTATGTAACAGAAGTACTTTCTGATTATTAAGGAATTTTTTTTTTTTTACTGTGCCCCTTGGCTATAAGAGGATAGATAAATGATAGATATGCAGACCTTACCACAAGGAGAATTTCTGCTATTTCTATAAACTAGTAACTCTTAGTTCATAAAACAAGTTTATTAAGAAAAAAAAAACATGCAACCGCTAATGTCAGCTGACATTTCTCAAAGTAGGCCAGAGTAGAAGAGAGATTACTTCTAGCTAAAGTGAAGCAAATTAAATTTTAAGAAGTTGAATATATTCATTCTCACTTTCATCATATTGCCCACCATCAAGGTGATTATAATATGTATACTGCTTCTTACAAACTCAAAGTAGTTAAAAGCAACTTTTTCCAACTTGTATATTCATAATATCGACAAAAATTATTCAGATATTAAAATTTAATGCTATTTTTAATGTATTTTATAAATAATGTACCTTTAATTATGGGAGAACATTTCAAGGGTTTTAAAGGGTTTTTTGGTTTTTGTTTTTTTTTGGTAATATGGAACATAAAGTACATTTTGGCTAACTTAATTGGCCCTGATTACCCAAAAGCAATTTATTTAAAAAGCAACAAGTATGATTATTTTTAATCCCACAACATCATAAGATTCCATCATTAAAATATATTTTAATATGCATGTAATTATCCATACACAATATGTCAAGCTATTTAAATCAAGTAGTTAAAAGGGGTTCTTACTGCAAAATCTTCTCTCCACTGGTGAGCTGCTTGAACTTTCTCCGCTTCCAATGCCAGGCGCTGAAAAACAAACAATAAATCTTAGAATTCAAATGAACACGTAATATGGAATTGTTATATAAAATGCTTGCGCTTTCTAATCAATTTTGAGGACATAAAAAGCAGAAGATGATCCTTATTTATGATTCATAAATTCTAAATCATTTAGTAATCTAACCTACTAAAGTTGATGTTTGTATATTTACTCTTCAGCAATATAAATAATATACTATTCTTGAATACCATTAAGTTTGTTACCTCTGCCATCATCAGCTATAGTGTCCTCTATGAGTGCTTTCTTTCAATGACTAATACTTCAGTTTTTAGAAAAACACTTAAGTATACTAATTTTCATAGAATCTTATTTTTAGTAAATACCTTTGGAGCATACATTTCTCTTAAAAAATGACATTGAGAGATTAATATGCACTAAACAATATACTAGGCACCTTCTTAAATGCATATTGAGTTTTTACCAAAAGCCACAAAAGCTGAAATAACTTCCCCTTTGATGAAGTACATCTTTAGTAGTTCTTTCAGCGATAATCTTTGATAGAGGATTTGTGCATCTTAAAATTGCTTTATTTCACCTTCAATCGTGTATGCTAAAGTAGTTAAGAATTATAAGCCAATTTATTTTCCTATAGCACTTTCGAAATGCTATTCCATTAAGTTCAGTGGGAGATGACATTGCTAGTGTCAGCCTGCCAATCACTTTTTATAAACTTTTTTTTCCCCTATTCCAATAGCTTTTAGACTTTTCTCTTTGTATTTTTCAACTTCACTATGATGTTCTCCATGTGATAGGCTTTCATAAGACAGTGACATTTAATGGTTAGGAACACAGAGTTGGGGACCCGACTGCCTAGATTTGAATATCAGCCCTTGCAAACTACTAGCTGTGCAACCTTGGGAAAAGTTAAGACTCTTCTCCCATTCTCTCATGTGAGTAATGTGAAAGCCTGCCTCATGGCTTATTGGAAGGACTAAATGAGTTACAAAGTGCTTAGAACAGTGCCTGGCACAAACTAAACAATATATATGTCAACTATCAACTTCAAAGAGTAATGGTTCTGTTTTCTCCCTGGATCCCCTAGAGAAAATAGTGCAGTGTTGAGTTTATTTGTGGTTTGCCTTATGCAGCTAGAAGATAGTGATAAAACTGAGCAAACAGAAAAGTAAATATAATAAATATACTAAACTCACTTATTAAGGTATAGAAATTATCAGGTTAGGTTTAAAAAATTACAAATCTCAGAGTCATTTATTGATTCATGCTGTTTGTGATCTATGAACTATTCCTTAGCGTAAGTTCTTCCTGTGGAGGTCCAGTCTACACTGGATAAACATCCTTCTAGACCAGTTTTTATATTAATGTATTGGCTTCTATCCCTGTGATTATAATCTATTCATTTTTCTAAGCTGTTGCATAGGTTTTATCAGTGACTCTATAATATTGCCTAGTGGGAGATCTCAATTTAAGAGTCCCAAAGCTAAATTTAAGTGAAAATCTATCATAGTGTGCCAAAAGGACAATGGTTTTGTTTTTCACTACTAGGTAGAAATGGAGTATATAAGAAGCTAGGAAATGTTAGAAATTGTACCACATAGAGTAACCAAAAGGCGGCTCCCTCTCCCTACAAAAACAAAAAACTAAGCAGCAAAGCCAAAAGACAAGCATATACATTTCAGGAACACTGCATCATAATACTTTTAGAAACTCAACTTCACATGAAAAATGAAGCAAAACATGAATAAAATGGCAAAAGGAATGGAAATGGAAGCAACTCTTCTATAGAAACACTTCAGTATGGGAAGATAAGGAAAGAGAAGATAGAATGAGAAAATAAGCATGAAGGCTTTTTCTTTTTTTCTTTGTTTTGATATAGGGTCTCACTCTGTCTCCCAGCCTGGAGTACAGTGGTGCAATCATAGCTCCCTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCTAAGTAGCTGGGACTACAGGTTTGCATCAAGAAACCCGGCTTTTTTTTTTTTTTTTTTTTTTTTGGTAAAGATGGGGTCTCAAACTCCTAGCCTCAAATTATCCTCCTATCTC:A,CACNA2D1,VCV004277370,4277370,NM_000722.4(CACNA2D1):c.295-2080_354+3407del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,,,,,,,,,,,False,False,False,False,True,0.75,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4277370,4277370,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,variation_id,unanchored_assertion_state,Brugada,False,True,False,-0.0,0.0,developmental and epileptic encephalopathy 110 | nm_000722.4(cacna2d1):c.295-2080_354+3407del | brugada | developmental and epileptic encephalopathy 110 | developmental and epileptic encephalopathy 110 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:82084801:C:T,CACNA2D1,VCV001802181,1802181,NM_000722.4(CACNA2D1):c.626G>A (p.Gly209Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,,,,,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1802181,1802181,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,variation_id,unanchored_assertion_state,Brugada,False,True,False,-0.0,0.0,developmental and epileptic encephalopathy 110 | nm_000722.4(cacna2d1):c.626g>a (p.gly209asp) | brugada | developmental and epileptic encephalopathy 110 | developmental and epileptic encephalopathy 110 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:82060485:T:TGTTC,CACNA2D1,VCV001802179,1802179,NM_000722.4(CACNA2D1):c.818_821dup (p.Ser275fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,,,,,,,,,,,False,False,False,False,True,0.75,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1802179,1802179,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,variation_id,unanchored_assertion_state,Brugada,False,True,False,-0.0,0.0,developmental and epileptic encephalopathy 110 | nm_000722.4(cacna2d1):c.818_821dup (p.ser275fs) | brugada | developmental and epileptic encephalopathy 110 | developmental and epileptic encephalopathy 110 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True +7:91993050:C:T,AKAP9,VCV004687971,4687971,NM_005751.5(AKAP9):c.571C>T (p.Gln191Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,,,,,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4687971,4687971,Long QT syndrome 11,Long QT syndrome 11,Long QT syndrome 11,variation_id,unanchored_assertion_state,LQTS,False,True,False,-0.0,0.0,long qt syndrome 11 | nm_005751.5(akap9):c.571c>t (p.gln191ter) | lqts | long qt syndrome 11 | long qt syndrome 11 | variation_id | false | -0.0,False,False,False,False,False,False,False,True,False,True diff --git a/data/processed/cab_clinvar_label_mining_by_environment.csv b/data/processed/cab_clinvar_label_mining_by_environment.csv new file mode 100644 index 0000000..8b13789 --- /dev/null +++ b/data/processed/cab_clinvar_label_mining_by_environment.csv @@ -0,0 +1 @@ + diff --git a/data/processed/cab_clinvar_label_mining_by_regime.csv b/data/processed/cab_clinvar_label_mining_by_regime.csv new file mode 100644 index 0000000..2c74730 --- /dev/null +++ b/data/processed/cab_clinvar_label_mining_by_regime.csv @@ -0,0 +1,7 @@ +primary_regime,n_assertions,frac_syncope,frac_sudden_death,frac_sads,frac_cardiac_arrest,frac_familial,frac_provocation,frac_structural,frac_channelopathy,frac_any_death_context,frac_any_symptom_or_context,frac_disease_model_collision,frac_unanchored_assertion_state,frac_canonical_monogenic +disease_model_collision,963,0.0010384215991692627,0.0,0.32191069574247144,0.0010384215991692627,0.016614745586708203,0.2720664589823468,0.01142263759086189,0.8494288681204569,0.3229491173416407,0.8982346832814122,1.0,0.7829698857736241,0.0 +unanchored_assertion_state,643,0.0,0.0,0.0,0.0,0.007776049766718507,0.0,0.007776049766718507,0.7465007776049767,0.0,0.7589424572317263,0.0,1.0,0.0 +canonical_monogenic,87,0.0,0.0,0.0,0.0,0.0,0.0,0.011494252873563218,0.6666666666666666,0.0,0.6781609195402298,0.0,0.0,1.0 +ancestry_concentrated,29,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.8275862068965517,0.0,0.8275862068965517,0.0,0.0,0.9655172413793104 +penetrance_boundary,8,0.0,0.0,0.0,0.0,0.0,0.0,0.0,1.0,0.0,1.0,0.0,0.0,1.0 +unknown_or_insufficient,1,0.0,0.0,0.0,0.0,0.0,0.0,0.0,1.0,0.0,1.0,0.0,0.0,0.0 diff --git a/data/processed/cab_clinvar_label_mining_summary.csv b/data/processed/cab_clinvar_label_mining_summary.csv new file mode 100644 index 0000000..c0253a9 --- /dev/null +++ b/data/processed/cab_clinvar_label_mining_summary.csv @@ -0,0 +1,11 @@ +flag,n_assertions,percent +label_any_symptom_or_context_flag,1445,83.47775852108607 +label_channelopathy_flag,1389,80.24263431542461 +label_any_death_context_flag,311,17.966493356441365 +label_sads_flag,310,17.908723281340265 +label_provocation_flag,262,15.135759676487579 +label_familial_flag,21,1.2131715771230502 +label_structural_flag,17,0.9820912767186597 +label_syncope_flag,1,0.057770075101097634 +label_cardiac_arrest_flag,1,0.057770075101097634 +label_sudden_death_flag,0,0.0 diff --git a/data/processed/cab_single_model_stress_by_clinical_environment.csv b/data/processed/cab_single_model_stress_by_clinical_environment.csv new file mode 100644 index 0000000..e9f7a92 --- /dev/null +++ b/data/processed/cab_single_model_stress_by_clinical_environment.csv @@ -0,0 +1,9 @@ +clinical_disease_group,n_assertions,repair_required_fraction,median_evidence_collision_index,mean_evidence_collision_index,fraction_multi_regime_required,death_context_label_fraction,provocation_label_fraction +Brugada,181,1.0,4.0,4.204419889502763,0.425414364640884,0.0,0.0 +CPVT,258,1.0,5.0,5.228682170542636,0.7596899224806202,0.003875968992248062,1.0 +LQTS,883,0.8720271800679502,1.0,1.189127972819932,0.0,0.0,0.0 +SADS,310,1.0,6.0,5.819354838709677,0.9709677419354839,1.0,0.0 +SQTS,23,1.0,3.0,2.8260869565217392,0.0,0.0,0.0 +arrhythmia,50,0.92,2.0,1.7,0.0,0.0,0.0 +cardiomyopathy_overlap,17,1.0,4.0,4.176470588235294,0.4117647058823529,0.0,0.23529411764705882 +conduction,9,1.0,2.0,2.2222222222222223,0.0,0.0,0.0 diff --git a/data/processed/cab_single_model_stress_by_gene.csv b/data/processed/cab_single_model_stress_by_gene.csv new file mode 100644 index 0000000..6940058 --- /dev/null +++ b/data/processed/cab_single_model_stress_by_gene.csv @@ -0,0 +1,18 @@ +gene,n_assertions,repair_required_fraction,median_evidence_collision_index,mean_evidence_collision_index,dominant_primary_regime,svad_gene_context_flag_fraction,death_context_label_fraction,provocation_label_fraction +RYR2,183,1.0,6.0,5.743169398907104,disease_model_collision,1.0,0.16393442622950818,0.8032786885245902 +SCN5A,394,1.0,6.0,5.180203045685279,disease_model_collision,1.0,0.6751269035532995,0.0 +CACNA1C,85,1.0,5.0,4.6,disease_model_collision,1.0,0.0,0.0 +CASQ2,65,1.0,4.0,4.4,disease_model_collision,0.0,0.046153846153846156,0.9538461538461539 +CALM1,15,1.0,5.0,4.4,disease_model_collision,0.0,0.2,0.6 +TRDN,51,1.0,4.0,4.392156862745098,disease_model_collision,0.0,0.13725490196078433,0.8627450980392157 +KCNJ2,29,1.0,3.0,2.8620689655172415,disease_model_collision,0.0,0.0,0.0 +ANK2,86,1.0,3.0,2.4767441860465116,disease_model_collision,0.0,0.0,0.0 +CALM3,8,1.0,2.0,2.375,disease_model_collision,0.0,0.125,0.0 +HCN4,18,1.0,2.0,2.2777777777777777,unanchored_assertion_state,0.0,0.0,0.0 +CALM2,13,1.0,2.0,2.076923076923077,disease_model_collision,0.0,0.07692307692307693,0.0 +CACNB2,1,1.0,2.0,2.0,ancestry_concentrated,1.0,0.0,0.0 +CACNA2D1,4,1.0,2.0,1.75,unanchored_assertion_state,0.0,0.0,0.0 +KCNQ1,286,0.8426573426573427,1.0,1.0454545454545454,unanchored_assertion_state,1.0,0.0,0.0 +AKAP9,1,1.0,1.0,1.0,unanchored_assertion_state,0.0,0.0,0.0 +KCNE1,14,0.6428571428571429,1.0,0.9285714285714286,unanchored_assertion_state,1.0,0.0,0.0 +KCNH2,478,0.8598326359832636,1.0,0.9225941422594143,unanchored_assertion_state,1.0,0.0,0.0 diff --git a/data/processed/cab_single_model_stress_by_regime.csv b/data/processed/cab_single_model_stress_by_regime.csv new file mode 100644 index 0000000..f6f49c0 --- /dev/null +++ b/data/processed/cab_single_model_stress_by_regime.csv @@ -0,0 +1,7 @@ +primary_regime,n_assertions,repair_required_fraction,median_evidence_collision_index,mean_evidence_collision_index,fraction_single_model_compatible,fraction_moderate_tension,fraction_high_tension,fraction_multi_regime_required +ancestry_concentrated,29,0.13793103448275862,1.0,1.1379310344827587,0.0,1.0,0.0,0.0 +canonical_monogenic,87,0.022988505747126436,0.0,0.022988505747126436,0.9770114942528736,0.022988505747126436,0.0,0.0 +disease_model_collision,963,1.0,5.0,4.670820353063344,0.0,0.09449636552440291,0.30218068535825543,0.6033229491173416 +penetrance_boundary,8,0.125,1.0,1.125,0.0,1.0,0.0,0.0 +unanchored_assertion_state,643,1.0,1.0,1.0295489891135303,0.0,0.995334370139969,0.004665629860031105,0.0 +unknown_or_insufficient,1,1.0,1.0,1.0,0.0,1.0,0.0,0.0 diff --git a/data/processed/cab_single_model_stress_summary.csv b/data/processed/cab_single_model_stress_summary.csv new file mode 100644 index 0000000..11884d2 --- /dev/null +++ b/data/processed/cab_single_model_stress_summary.csv @@ -0,0 +1,2 @@ +total_assertions,repair_required_n,repair_required_percent,single_model_compatible_n,single_model_compatible_percent,moderate_tension_n,moderate_tension_percent,high_tension_n,high_tension_percent,multi_regime_required_n,multi_regime_required_percent,median_evidence_collision_index,mean_evidence_collision_index +1731,1614,93.24090121317158,85,4.910456383593298,771,44.54072790294627,294,16.984402079722702,581,33.56441363373772,3.0,3.0069324090121317 diff --git a/data/processed/cab_single_model_stress_test.csv b/data/processed/cab_single_model_stress_test.csv new file mode 100644 index 0000000..f105bbb --- /dev/null +++ b/data/processed/cab_single_model_stress_test.csv @@ -0,0 +1,1732 @@ +gene,primary_regime,clinical_disease_group,condition_groups,condition_entropy,popmax_af,is_disease_model_collision,is_unanchored_assertion_state,is_canonical_monogenic,label_any_death_context_flag,label_sads_flag,label_provocation_flag,label_familial_flag,label_structural_flag,label_channelopathy_flag,svad_gene_context_flag,svad_hgvs_string_overlap_flag,single_model_repair_required,evidence_collision_index,regime_tension_class,single_model_failure_reasons +SCN5A,disease_model_collision,SADS,Brugada|LQTS|SADS|conduction,2.0,0.0056763862332695,True,False,False,True,True,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; death_context_label; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +TRDN,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,0.0002182135583357,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +KCNH2,penetrance_boundary,LQTS,LQTS,-0.0,0.0001315270288044,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,penetrance_boundary +CACNB2,ancestry_concentrated,Brugada,Brugada,-0.0,0.0001970877388239,False,False,False,False,False,False,False,False,True,True,False,True,2,moderate_tension,noncanonical_clinical_environment; ancestry_concentrated +TRDN,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,0.0001336541031809,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +CASQ2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,0.0001495662578522,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +KCNH2,ancestry_concentrated,LQTS,LQTS,-0.0,0.0002143163309044,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,ancestry_concentrated +TRDN,disease_model_collision,SADS,CPVT|SADS,1.0,0.000112101339611,True,False,False,True,True,False,False,False,False,False,False,True,4,high_tension,disease_model_collision; death_context_label; condition_entropy_gt0; noncanonical_clinical_environment +KCNH2,ancestry_concentrated,LQTS,LQTS,-0.0,6.611424541607899e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,ancestry_concentrated +CASQ2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,0.0001734906315058,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +KCNQ1,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,8.944543828264758e-05,True,False,False,False,False,False,False,False,True,True,False,True,2,moderate_tension,disease_model_collision; condition_entropy_gt0 +TRDN,disease_model_collision,SADS,CPVT|SADS,1.0,6.617783307303386e-05,True,False,False,True,True,False,False,False,False,False,False,True,4,high_tension,disease_model_collision; death_context_label; condition_entropy_gt0; noncanonical_clinical_environment +TRDN,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,8.552347090760583e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +SCN5A,disease_model_collision,Brugada,Brugada,-0.0,6.006366748753679e-05,True,False,False,False,False,False,False,False,True,True,False,True,3,high_tension,disease_model_collision; noncanonical_clinical_environment; svad_collision_heavy_gene +TRDN,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,6.756756756756757e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +CASQ2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,4.9675453702477146e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +KCNQ1,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,6.709308046696784e-05,True,False,False,False,False,False,False,False,True,True,False,True,2,moderate_tension,disease_model_collision; condition_entropy_gt0 +TRDN,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,5.052801778586226e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,3.747423646243208e-05,True,False,False,False,False,False,False,False,True,True,False,True,4,high_tension,disease_model_collision; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CASQ2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,4.178991663820107e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +CASQ2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,4.473272198613286e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +SCN5A,disease_model_collision,arrhythmia,arrhythmia,-0.0,3.8337678270203954e-05,True,False,False,False,False,False,False,False,False,True,False,True,2,moderate_tension,disease_model_collision; svad_collision_heavy_gene +CASQ2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,3.827311696264544e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +KCNQ1,ancestry_concentrated,LQTS,LQTS,-0.0,3.8743171516020304e-05,False,False,True,False,False,False,False,False,False,True,False,False,1,moderate_tension,ancestry_concentrated +KCNQ1,ancestry_concentrated,LQTS,LQTS,-0.0,3.807493146512336e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,ancestry_concentrated +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,3.8267258533598655e-05,True,False,False,False,False,False,False,False,False,False,False,True,2,moderate_tension,disease_model_collision; condition_entropy_gt0 +CASQ2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,6.707807888382076e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +TRDN,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,2.9870362626202283e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +HCN4,ancestry_concentrated,Brugada,Brugada,-0.0,3.744056310606911e-05,False,False,True,False,False,False,False,False,True,False,False,True,2,moderate_tension,noncanonical_clinical_environment; ancestry_concentrated +KCNH2,ancestry_concentrated,LQTS,LQTS,-0.0,2.8064660978895374e-05,False,False,True,False,False,False,False,False,False,True,False,False,1,moderate_tension,ancestry_concentrated +SCN5A,disease_model_collision,arrhythmia,arrhythmia,-0.0,3.832592365476008e-05,True,False,False,False,False,False,False,False,False,True,False,True,2,moderate_tension,disease_model_collision; svad_collision_heavy_gene +KCNQ1,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,3.828190797029324e-05,True,False,False,False,False,False,False,False,True,True,False,True,2,moderate_tension,disease_model_collision; condition_entropy_gt0 +SCN5A,disease_model_collision,SADS,Brugada|LQTS|SADS|conduction,2.0,3.0111412225233363e-05,True,False,False,True,True,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; death_context_label; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +TRDN,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,1.5570594154409688e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +KCNQ1,ancestry_concentrated,SQTS,SQTS,-0.0,2.3186792802819512e-05,False,False,True,False,False,False,False,False,True,True,False,True,2,moderate_tension,noncanonical_clinical_environment; ancestry_concentrated +KCNH2,ancestry_concentrated,LQTS,LQTS,-0.0,3.980891719745223e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,ancestry_concentrated +ANK2,disease_model_collision,LQTS,LQTS,-0.0,2.988464526926065e-05,True,False,False,False,False,False,False,False,True,False,False,True,1,moderate_tension,disease_model_collision +TRDN,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,2.676874481355569e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +KCNH2,ancestry_concentrated,LQTS,LQTS,-0.0,2.520923666431381e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,ancestry_concentrated +KCNQ1,ancestry_concentrated,LQTS,LQTS,-0.0,2.31862551879246e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,ancestry_concentrated +TRDN,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,2.603458550047152e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +CACNA1C,disease_model_collision,LQTS,LQTS,-0.0,3.827018752391887e-05,True,False,False,False,False,False,False,False,True,True,False,True,2,moderate_tension,disease_model_collision; svad_collision_heavy_gene +SCN5A,disease_model_collision,SADS,Brugada|LQTS|SADS|conduction,2.0,2.9870362626202283e-05,True,False,False,True,True,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; death_context_label; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +KCNH2,ancestry_concentrated,LQTS,LQTS,-0.0,2.235935962794025e-05,False,False,True,False,False,False,False,False,False,True,False,False,1,moderate_tension,ancestry_concentrated +SCN5A,disease_model_collision,arrhythmia,arrhythmia,-0.0,2.56068831301854e-05,True,False,False,False,False,False,False,False,False,True,False,True,2,moderate_tension,disease_model_collision; svad_collision_heavy_gene +SCN5A,disease_model_collision,SADS,Brugada|LQTS|SADS|conduction,2.0,2.27004449287206e-05,True,False,False,True,True,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; death_context_label; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +SCN5A,disease_model_collision,SADS,Brugada|LQTS|SADS|conduction,2.0,3.3126842680624107e-05,True,False,False,True,True,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; death_context_label; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +KCNQ1,ancestry_concentrated,LQTS,LQTS,-0.0,2.520034272466105e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,ancestry_concentrated +KCNQ1,ancestry_concentrated,LQTS,LQTS,-0.0,2.235935962794025e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,ancestry_concentrated +RYR2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,1.2573555298496204e-05,True,False,False,False,False,True,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CASQ2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,3.53090720775858e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +KCNH2,ancestry_concentrated,LQTS,LQTS,-0.0,2.8638524543215534e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,ancestry_concentrated +CACNA1C,disease_model_collision,LQTS,LQTS,-0.0,2.2369362920544025e-05,True,False,False,False,False,False,False,False,True,True,False,True,2,moderate_tension,disease_model_collision; svad_collision_heavy_gene +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,2.987571701720841e-05,True,False,False,False,False,False,False,False,False,False,False,True,2,moderate_tension,disease_model_collision; condition_entropy_gt0 +KCNE1,penetrance_boundary,LQTS,LQTS,-0.0,2.9429942023014216e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,penetrance_boundary +CASQ2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,2.4118469924268005e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +KCNQ1,ancestry_concentrated,LQTS,LQTS,-0.0,3.968253968253968e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,ancestry_concentrated +SCN5A,disease_model_collision,SADS,Brugada|LQTS|SADS|conduction,2.0,2.540779511154022e-05,True,False,False,True,True,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; death_context_label; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +KCNH2,ancestry_concentrated,LQTS,LQTS,-0.0,2.6745119015779625e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,ancestry_concentrated +CASQ2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,2.5218136884047006e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +CASQ2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,2.521050773962588e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +KCNQ1,ancestry_concentrated,arrhythmia,arrhythmia,-0.0,2.5191455058444177e-05,False,False,True,False,False,False,False,False,False,True,False,False,1,moderate_tension,ancestry_concentrated +ANK2,disease_model_collision,LQTS,LQTS,-0.0,2.239741981723705e-05,True,False,False,False,False,False,False,False,True,False,False,True,1,moderate_tension,disease_model_collision +CASQ2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,1.173325438959098e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +KCNH2,penetrance_boundary,LQTS,LQTS,-0.0,3.380434047731729e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,penetrance_boundary +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,2.237236565394425e-05,True,False,False,False,False,False,False,False,False,False,False,True,2,moderate_tension,disease_model_collision; condition_entropy_gt0 +SCN5A,disease_model_collision,SADS,Brugada|LQTS|SADS|conduction,2.0,1.6557387906483872e-05,True,False,False,True,True,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; death_context_label; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +KCNQ1,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,2.484225170169424e-05,True,False,False,False,False,False,False,False,True,True,False,True,2,moderate_tension,disease_model_collision; condition_entropy_gt0 +SCN5A,disease_model_collision,Brugada,Brugada|LQTS|arrhythmia,1.584962500721156,3.826432999158185e-05,True,False,False,False,False,False,False,False,True,True,False,True,4,high_tension,disease_model_collision; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CASQ2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,2.2361359570661896e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +CASQ2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,2.236736154603203e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +SCN5A,disease_model_collision,Brugada,Brugada,-0.0,3.311587243765937e-05,True,False,False,False,False,False,False,False,True,True,False,True,3,high_tension,disease_model_collision; noncanonical_clinical_environment; svad_collision_heavy_gene +SCN5A,disease_model_collision,Brugada,Brugada|arrhythmia,1.0,3.419271011420365e-05,True,False,False,False,False,False,False,False,True,True,False,True,4,high_tension,disease_model_collision; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +HCN4,ancestry_concentrated,Brugada,Brugada,-0.0,2.236235967619303e-05,False,False,True,False,False,False,False,False,True,False,False,True,2,moderate_tension,noncanonical_clinical_environment; ancestry_concentrated +TRDN,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,2.990251779199809e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +TRDN,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,2.2095541119802024e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +SCN5A,disease_model_collision,Brugada,Brugada,-0.0,2.524614996213077e-05,True,False,False,False,False,False,False,False,True,True,False,True,3,high_tension,disease_model_collision; noncanonical_clinical_environment; svad_collision_heavy_gene +KCNQ1,ancestry_concentrated,LQTS,LQTS,-0.0,2.3213705371651425e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,ancestry_concentrated +RYR2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,1.6563421340312053e-05,True,False,False,False,False,True,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +KCNQ1,ancestry_concentrated,LQTS,LQTS,-0.0,2.5192724341210258e-05,False,False,True,False,False,False,False,False,False,True,False,False,1,moderate_tension,ancestry_concentrated +KCNQ1,ancestry_concentrated,LQTS,LQTS,-0.0,3.278043663541598e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,ancestry_concentrated +TRDN,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,3.4233679093492176e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +ANK2,disease_model_collision,arrhythmia,arrhythmia,-0.0,1.6559032952475575e-05,True,False,False,False,False,False,False,False,False,False,False,True,1,moderate_tension,disease_model_collision +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,1.872308556450103e-05,True,False,False,False,False,False,False,False,False,False,False,True,2,moderate_tension,disease_model_collision; condition_entropy_gt0 +TRDN,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,3.33000333000333e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +KCNH2,ancestry_concentrated,LQTS,LQTS,-0.0,1.8775111711914684e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,ancestry_concentrated +SCN5A,disease_model_collision,Brugada,Brugada|arrhythmia,1.0,2.2374367924106146e-05,True,False,False,False,False,False,False,False,True,True,False,True,4,high_tension,disease_model_collision; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +KCNJ2,disease_model_collision,SQTS,SQTS,-0.0,1.6557387906483872e-05,True,False,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; noncanonical_clinical_environment +KCNQ1,ancestry_concentrated,LQTS,LQTS,-0.0,2.5188916876574308e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,ancestry_concentrated +ANK2,disease_model_collision,arrhythmia,arrhythmia,-0.0,1.6557387906483872e-05,True,False,False,False,False,False,False,False,False,False,False,True,1,moderate_tension,disease_model_collision +KCNH2,ancestry_concentrated,LQTS,LQTS,-0.0,1.171042461999672e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,ancestry_concentrated +KCNQ1,penetrance_boundary,LQTS,LQTS,-0.0,1.6558484567492383e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,penetrance_boundary +CASQ2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,1.655958137378287e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +TRDN,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,1.8289560318969934e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +SCN5A,disease_model_collision,cardiomyopathy_overlap,Brugada|arrhythmia|cardiomyopathy_overlap,1.584962500721156,2.519018590357197e-05,True,False,False,False,False,False,True,True,True,True,False,True,5,multi_regime_required,disease_model_collision; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene; structural_channelopathy_collision +TRDN,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,1.160227404571296e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +KCNQ1,ancestry_concentrated,LQTS,LQTS,-0.0,1.1593396401409756e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,ancestry_concentrated +SCN5A,disease_model_collision,Brugada,Brugada|LQTS|arrhythmia,1.584962500721156,1.657000828500414e-05,True,False,False,False,False,False,False,False,True,True,False,True,4,high_tension,disease_model_collision; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CASQ2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,2.236035955458164e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +KCNJ2,disease_model_collision,SQTS,SQTS,-0.0,1.6557387906483872e-05,True,False,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; noncanonical_clinical_environment +RYR2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,1.656781205474005e-05,True,False,False,False,False,True,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +TRDN,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,2.22727070248118e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +KCNE1,ancestry_concentrated,LQTS,LQTS,-0.0,1.1603620329542817e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,ancestry_concentrated +RYR2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,1.27890321260487e-05,True,False,False,False,False,True,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +KCNQ1,ancestry_concentrated,LQTS,LQTS,-0.0,1.1602543277486424e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,ancestry_concentrated +CASQ2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,2.285818780287099e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +SCN5A,disease_model_collision,arrhythmia,arrhythmia,-0.0,1.8777932174108987e-05,True,False,False,False,False,False,False,False,False,True,False,True,2,moderate_tension,disease_model_collision; svad_collision_heavy_gene +KCNE1,ancestry_concentrated,LQTS,LQTS,-0.0,1.5943369152769364e-05,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,ancestry_concentrated +KCNQ1,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,1.160631383472609e-05,True,False,False,False,False,False,False,False,True,True,False,True,2,moderate_tension,disease_model_collision; condition_entropy_gt0 +KCNJ2,disease_model_collision,SQTS,SQTS,-0.0,1.15931275939623e-05,True,False,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; noncanonical_clinical_environment +TRDN,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,1.6596408537192552e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +HCN4,disease_model_collision,cardiomyopathy_overlap,Brugada|cardiomyopathy_overlap,1.0,1.6557936218829686e-05,True,False,False,False,False,False,False,True,True,False,False,True,4,high_tension,disease_model_collision; condition_entropy_gt0; noncanonical_clinical_environment; structural_channelopathy_collision +RYR2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,1.15931275939623e-05,True,False,False,False,False,True,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CASQ2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,1.168688497767805e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +CASQ2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,1.162385214460072e-05,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +KCNE1,penetrance_boundary,LQTS,LQTS,-0.0,3.923091710114907e-06,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,penetrance_boundary +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,3.420660515862971e-06,True,False,False,False,False,False,False,False,False,False,False,True,2,moderate_tension,disease_model_collision; condition_entropy_gt0 +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,1.8602055527135749e-06,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +KCNQ1,canonical_monogenic,LQTS,LQTS,-0.0,1.7986646713479913e-06,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,1.1272305073664514e-06,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +CACNA2D1,unknown_or_insufficient,Brugada,Brugada,-0.0,9.019003039404024e-07,False,False,False,False,False,False,False,False,True,False,False,True,1,moderate_tension,noncanonical_clinical_environment +SCN5A,disease_model_collision,SADS,Brugada|LQTS|SADS|conduction,2.0,8.996883479562679e-07,True,False,False,True,True,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; death_context_label; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +KCNQ1,canonical_monogenic,LQTS,LQTS,-0.0,0.0,False,False,True,False,False,False,False,False,False,True,False,False,0,single_model_compatible, +KCNQ1,canonical_monogenic,LQTS,LQTS,-0.0,0.0,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,0.0,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,0.0,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +TRDN,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,0.0,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +KCNH2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,7.97089897247866e-06,True,False,False,False,False,False,False,False,True,True,False,True,2,moderate_tension,disease_model_collision; condition_entropy_gt0 +TRDN,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,5.414810589925564e-06,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +SCN5A,disease_model_collision,SADS,Brugada|LQTS|SADS|conduction,2.0,5.403010557482629e-06,True,False,False,True,True,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; death_context_label; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +KCNH2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,4.655415458586356e-06,True,False,False,False,False,False,False,False,True,True,False,True,2,moderate_tension,disease_model_collision; condition_entropy_gt0 +KCNQ1,penetrance_boundary,LQTS,LQTS,-0.0,2.6979242171073577e-06,False,False,True,False,False,False,False,False,True,True,False,False,1,moderate_tension,penetrance_boundary +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,1.8277793212358715e-06,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,1.802292155162936e-06,False,False,True,False,False,False,False,False,False,True,False,False,0,single_model_compatible, +SCN5A,disease_model_collision,Brugada,Brugada,-0.0,1.7988749835852655e-06,True,False,False,False,False,False,False,False,True,True,False,True,3,high_tension,disease_model_collision; noncanonical_clinical_environment; svad_collision_heavy_gene +CASQ2,disease_model_collision,CPVT,CPVT|arrhythmia,1.0,1.7988458604959058e-06,True,False,False,False,False,True,False,False,True,False,False,True,4,high_tension,disease_model_collision; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +KCNQ1,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,1.798784381514972e-06,True,False,False,False,False,False,False,False,True,True,False,True,2,moderate_tension,disease_model_collision; condition_entropy_gt0 +KCNQ1,canonical_monogenic,LQTS,LQTS,-0.0,1.1995470510335298e-06,False,False,True,False,False,False,False,False,False,True,False,False,0,single_model_compatible, +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,1.1032048099729716e-06,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +KCNQ1,disease_model_collision,LQTS,LQTS|SQTS|arrhythmia,1.584962500721156,9.895679744137304e-07,True,False,False,False,False,False,True,False,True,True,False,True,2,moderate_tension,disease_model_collision; condition_entropy_gt0 +SCN5A,disease_model_collision,arrhythmia,arrhythmia,-0.0,9.016856110813556e-07,True,False,False,False,False,False,False,False,False,True,False,True,2,moderate_tension,disease_model_collision; svad_collision_heavy_gene +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,9.000819074535783e-07,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +CACNA1C,disease_model_collision,LQTS,LQTS,-0.0,8.998033029979646e-07,True,False,False,False,False,False,False,False,True,True,False,True,2,moderate_tension,disease_model_collision; svad_collision_heavy_gene +SCN5A,disease_model_collision,SADS,Brugada|SADS,1.0,8.99647877820621e-07,True,False,False,True,True,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; death_context_label; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +SCN5A,disease_model_collision,Brugada,Brugada,-0.0,8.99566948471006e-07,True,False,False,False,False,False,False,False,True,True,False,True,3,high_tension,disease_model_collision; noncanonical_clinical_environment; svad_collision_heavy_gene +TRDN,disease_model_collision,SADS,CPVT|SADS,1.0,8.994148407046376e-07,True,False,False,True,True,False,False,False,False,False,False,True,4,high_tension,disease_model_collision; death_context_label; condition_entropy_gt0; noncanonical_clinical_environment +KCNQ1,canonical_monogenic,LQTS,LQTS,-0.0,8.99363071073066e-07,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +ANK2,disease_model_collision,LQTS,LQTS,-0.0,8.993468942853699e-07,True,False,False,False,False,False,False,False,True,False,False,True,1,moderate_tension,disease_model_collision +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,8.993291004910337e-07,True,False,False,False,False,False,False,False,False,False,False,True,2,moderate_tension,disease_model_collision; condition_entropy_gt0 +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,8.992999848917603e-07,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,8.992918975598614e-07,False,False,True,False,False,False,False,False,False,True,False,False,0,single_model_compatible, +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,8.992789581313703e-07,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,8.992757233324281e-07,False,False,True,False,False,False,False,False,False,True,False,False,0,single_model_compatible, +SCN5A,disease_model_collision,SADS,Brugada|LQTS|SADS|conduction,2.0,8.992708711776492e-07,True,False,False,True,True,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; death_context_label; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +KCNQ1,canonical_monogenic,LQTS,LQTS,-0.0,0.0,False,False,True,False,False,False,False,False,False,True,False,False,0,single_model_compatible, +KCNQ1,canonical_monogenic,LQTS,LQTS,-0.0,0.0,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +KCNQ1,canonical_monogenic,LQTS,LQTS,-0.0,0.0,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +KCNQ1,canonical_monogenic,LQTS,LQTS,-0.0,0.0,False,False,True,False,False,False,False,False,False,True,False,False,0,single_model_compatible, +KCNQ1,canonical_monogenic,LQTS,LQTS,-0.0,0.0,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,0.0,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,0.0,False,False,True,False,False,False,False,False,False,True,False,False,0,single_model_compatible, +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,0.0,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,0.0,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,0.0,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,0.0,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,0.0,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,0.0,False,False,True,False,False,False,False,False,False,True,False,False,0,single_model_compatible, +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,0.0,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, +KCNH2,canonical_monogenic,LQTS,LQTS,-0.0,0.0,False,False,True,False,False,False,False,False,True,True,False,False,0,single_model_compatible, 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+KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,disease_model_collision,LQTS,LQTS|SQTS|arrhythmia,1.584962500721156,0.0,True,True,False,False,False,False,True,False,True,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +KCNQ1,disease_model_collision,LQTS,LQTS|SQTS|arrhythmia,1.584962500721156,0.0,True,True,False,False,False,False,True,False,True,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,arrhythmia,arrhythmia,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,disease_model_collision,LQTS,LQTS|SQTS|arrhythmia,1.584962500721156,0.0,True,True,False,False,False,False,True,False,True,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +KCNQ1,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion 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+KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion 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+KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,True,False,True,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +KCNQ1,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,disease_model_collision,LQTS,LQTS|SQTS|arrhythmia,1.584962500721156,0.0,True,True,False,False,False,False,True,False,True,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,True,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,arrhythmia,arrhythmia,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,arrhythmia,arrhythmia,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,arrhythmia,arrhythmia,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,arrhythmia,arrhythmia,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,arrhythmia,arrhythmia,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,disease_model_collision,LQTS,LQTS|SQTS|arrhythmia,1.584962500721156,0.0,True,True,False,False,False,False,True,False,True,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,disease_model_collision,LQTS,LQTS|SQTS|arrhythmia,1.584962500721156,0.0,True,True,False,False,False,False,True,False,True,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNQ1,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +KCNQ1,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,arrhythmia,arrhythmia,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,arrhythmia,arrhythmia,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,arrhythmia,arrhythmia,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,arrhythmia,arrhythmia,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,arrhythmia,arrhythmia,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,arrhythmia,arrhythmia,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +KCNH2,unanchored_assertion_state,arrhythmia,arrhythmia,-0.0,0.0,False,True,False,False,False,False,False,False,False,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion +KCNH2,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,True,False,True,1,moderate_tension,unanchored_assertion 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noncanonical_clinical_environment +CALM1,disease_model_collision,CPVT,CPVT|LQTS|arrhythmia,1.584962500721156,0.0,True,True,False,False,False,True,False,False,True,False,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +CALM1,disease_model_collision,CPVT,CPVT|LQTS|arrhythmia,1.584962500721156,0.0,True,True,False,False,False,True,False,False,True,False,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +CALM1,disease_model_collision,CPVT,CPVT|LQTS|arrhythmia,1.584962500721156,0.0,True,True,False,False,False,True,False,False,True,False,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; provocation_label; condition_entropy_gt0; noncanonical_clinical_environment +CALM1,disease_model_collision,SADS,CPVT|LQTS|SADS,1.584962500721156,0.0,True,True,False,True,True,False,False,False,False,False,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; death_context_label; condition_entropy_gt0; noncanonical_clinical_environment +CALM1,disease_model_collision,SADS,CPVT|LQTS|SADS,1.584962500721156,0.0,True,True,False,True,True,False,False,False,False,False,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; death_context_label; condition_entropy_gt0; noncanonical_clinical_environment +CALM1,disease_model_collision,SADS,CPVT|LQTS|SADS,1.584962500721156,0.0,True,True,False,True,True,False,False,False,False,False,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; death_context_label; condition_entropy_gt0; noncanonical_clinical_environment +CALM2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +CALM2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +CALM2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +CALM2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +CALM2,disease_model_collision,SADS,SADS,-0.0,0.0,True,True,False,True,True,False,False,False,False,False,False,True,4,high_tension,disease_model_collision; unanchored_assertion; death_context_label; noncanonical_clinical_environment +CALM2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +CALM2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +CALM2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +CALM2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +CALM2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +CALM2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +CALM2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +CALM3,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +CALM3,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +CALM3,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +CALM3,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +CALM3,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +CALM3,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +CALM3,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +CALM3,disease_model_collision,SADS,CPVT|LQTS|SADS,1.584962500721156,0.0,True,True,False,True,True,False,False,False,False,False,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; death_context_label; condition_entropy_gt0; noncanonical_clinical_environment +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +ANK2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +ANK2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +ANK2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,Brugada,Brugada,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; noncanonical_clinical_environment +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,arrhythmia,arrhythmia,-0.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +ANK2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +ANK2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,arrhythmia,arrhythmia,-0.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +ANK2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,arrhythmia,arrhythmia,-0.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +ANK2,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,disease_model_collision; unanchored_assertion +ANK2,disease_model_collision,LQTS,LQTS|arrhythmia,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +KCNJ2,disease_model_collision,SQTS,SQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; noncanonical_clinical_environment +KCNJ2,disease_model_collision,SQTS,SQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; noncanonical_clinical_environment +KCNJ2,disease_model_collision,SQTS,SQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; noncanonical_clinical_environment +KCNJ2,disease_model_collision,SQTS,SQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; noncanonical_clinical_environment +KCNJ2,disease_model_collision,LQTS,LQTS|periodic_paralysis,1.0,0.0,True,True,False,False,False,False,False,False,False,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; condition_entropy_gt0 +KCNJ2,disease_model_collision,SQTS,SQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; noncanonical_clinical_environment +KCNJ2,disease_model_collision,SQTS,SQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,False,False,True,3,high_tension,disease_model_collision; unanchored_assertion; noncanonical_clinical_environment 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+CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,conduction,conduction,-0.0,0.0,True,True,False,False,False,False,False,False,False,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada,-0.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,4,high_tension,disease_model_collision; unanchored_assertion; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; svad_collision_heavy_gene +CACNA1C,disease_model_collision,LQTS,LQTS,-0.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,3,high_tension,disease_model_collision; unanchored_assertion; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA1C,disease_model_collision,Brugada,Brugada|LQTS,1.0,0.0,True,True,False,False,False,False,False,False,True,True,False,True,5,multi_regime_required,disease_model_collision; unanchored_assertion; condition_entropy_gt0; noncanonical_clinical_environment; svad_collision_heavy_gene +CACNA2D1,unanchored_assertion_state,Brugada,Brugada,-0.0,0.0,False,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,unanchored_assertion; noncanonical_clinical_environment +CACNA2D1,unanchored_assertion_state,Brugada,Brugada,-0.0,0.0,False,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,unanchored_assertion; noncanonical_clinical_environment +CACNA2D1,unanchored_assertion_state,Brugada,Brugada,-0.0,0.0,False,True,False,False,False,False,False,False,True,False,False,True,2,moderate_tension,unanchored_assertion; noncanonical_clinical_environment +AKAP9,unanchored_assertion_state,LQTS,LQTS,-0.0,0.0,False,True,False,False,False,False,False,False,True,False,False,True,1,moderate_tension,unanchored_assertion diff --git a/data/processed/cab_svad_gene_context_gene_summary.csv b/data/processed/cab_svad_gene_context_gene_summary.csv new file mode 100644 index 0000000..1ea9dfa --- /dev/null +++ b/data/processed/cab_svad_gene_context_gene_summary.csv @@ -0,0 +1,18 @@ +gene,cab_assertions,collision_fraction,unanchored_fraction,canonical_fraction,svad_gene,svad_rows,svad_gene_context_flag +RYR2,183,0.9617486338797814,0.8524590163934426,0.0,RYR2,945,True +SCN5A,394,1.0,0.8553299492385786,0.0,SCN5A,300,True +KCNQ1,286,0.09090909090909091,0.8041958041958042,0.16083916083916083,KCNQ1,180,True +KCNH2,478,0.02092050209205021,0.8514644351464435,0.14225941422594143,KCNH2,131,True +CACNA1C,85,1.0,0.8588235294117647,0.0,CACNA1C,35,True +KCNE1,14,0.0,0.6428571428571429,0.35714285714285715,KCNE1,10,True +CACNB2,1,0.0,0.0,0.0,CACNB2,6,True +ANK2,86,1.0,0.7558139534883721,0.0,,0,False +CASQ2,65,1.0,0.4,0.0,,0,False +TRDN,51,1.0,0.39215686274509803,0.0,,0,False +KCNJ2,29,1.0,0.7931034482758621,0.0,,0,False +HCN4,18,0.2777777777777778,0.6666666666666666,0.2222222222222222,,0,False +CALM1,15,1.0,1.0,0.0,,0,False +CALM2,13,1.0,0.9230769230769231,0.0,,0,False +CALM3,8,1.0,1.0,0.0,,0,False +CACNA2D1,4,0.0,0.75,0.0,,0,False +AKAP9,1,0.0,1.0,0.0,,0,False diff --git a/data/processed/cab_svad_gene_context_overlay.csv b/data/processed/cab_svad_gene_context_overlay.csv new file mode 100644 index 0000000..ba7572b --- /dev/null +++ b/data/processed/cab_svad_gene_context_overlay.csv @@ -0,0 +1,1732 @@ +variant_key,gene,clinvar_id,variation_id,title,clinsig,review_status,review_strength,review_score,submitter_count,submitter_count_source,match_category,frequency_evidence_status,variant_type,functional_class,global_af,global_ac,global_an,popmax_af,popmax_ac,popmax_population,popmax_global_ratio,max_frequency_signal,max_frequency_source,qualifying_frequency_ac,standard_acmg_frequency_flag,standard_acmg_high_frequency_flag,popmax_only_frequency_flag,frequency_signal_ac_ge_20,weak_review_signal,gene_frequency_constraint_proxy,technical_detectability_index,frequency_pressure_score,ac_reliability_score,popmax_enrichment_score,variant_type_tension_score,technical_detectability_score,gene_constraint_score,review_fragility_score,vital_score,vital_band,vital_red_flag,predicted_revision_direction,vital_signal_reason,variation_id_key,vcv_key,condition_from_variation_id,condition_from_vcv,condition_labels,condition_label_join_source,log10_global_af,log10_popmax_af,log10_popmax_global_ratio,allele_anchoring_state,allele_identity_score,condition_groups,condition_context_source,condition_count,condition_entropy,condition_group_primary,phenotype_environment,phenotype_detectability_score,curation_tier,gene_disease_validity_score,inheritance_model,mechanism_class,sads_gene_context_flag,collision_prone_gene_flag,sads_label_flag,sads_relevance_score,ancestry_concentrated_flag,max_credible_af,af_boundary_distance,penetrance_boundary_flag,hard_dominant_conflict_flag,disease_model_collision_flag,is_unanchored_assertion_state,is_disease_model_collision,is_sads_sensitive,is_ancestry_concentrated,is_penetrance_boundary,is_canonical_monogenic,primary_regime,regime_memberships,assignment_hgvs_keyset,svad_gene_context_flag,svad_hgvs_string_overlap_flag +3:38562456:G:A,SCN5A,VCV000440850,440850,NM_000335.4(SCN5A):c.[3919C>T;694G>A],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,0.0001464876505434,214.0,1460874.0,0.0056763862332695,190.0,afr,38.74992993923283,0.0056763862332695,popmax,214.0,True,True,False,True,True,0.6637931034482759,0.811340206185567,45.0,20.0,7.941354608142989,0.0,6.490721649484536,6.637931034482759,10.0,96.07000729211028,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,440850,440850,,,,unmatched,-3.834198986415146,-2.24592806189834,1.5882709216285975,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,1.75407193810166,False,True,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive,0.0|3:38562456:g:a|snv,True,False +6:123438063:CT:C,TRDN,VCV001325231,1325231,NM_006073.4(TRDN):c.1050del (p.Glu351fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.774748677138568e-05,40.0,1441572.0,0.0002182135583357,9.0,amr,7.864263645544536,0.0002182135583357,popmax,40.0,True,True,False,True,True,0.390625,0.6043553875236295,30.124838998003188,20.0,4.478290322877946,3.0,4.834843100189036,3.90625,8.0,74.34422242107016,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,1325231,1325231,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-4.556776346982672,-3.661118268745641,0.8956580645755892,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-0.6611182687456405,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,3.0|6:123438063:ct:c|deletion,False,False +7:150950166:A:C,KCNH2,VCV004535537,4535537,NM_000238.4(KCNH2):c.2398+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.367018818211924e-05,24.0,549574.0,0.0001315270288044,2.0,asj,3.0118264259375755,0.0001315270288044,popmax,24.0,True,True,False,True,True,0.8263888888888888,0.811340206185567,25.177837788340284,20.0,2.3941496974878667,0.0,6.490721649484536,8.26388888888889,8.0,70.32659802420157,red_reclassification_priority,True,P/LP_to_VUS_or_B_review_recommended,popmax_AF_gt_1e-4; global_AF_gt_1e-5; AC_ge_20; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,4535537,4535537,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-4.359814936627322,-3.880984990486817,0.4788299394975733,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,0.7210750008411452,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary,0.0|7:150950166:a:c|snv,True,False +10:18514531:G:T,CACNB2,VCV003774534,3774534,NM_201596.3(CACNB2):c.804+162G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,1.1632028310988434e-05,17.0,1461482.0,0.0001970877388239,17.0,sas,16.943538788860945,0.0001970877388239,popmax,17.0,True,True,False,False,True,0.25,0.811340206185567,29.129841204685352,18.987357242520268,6.145020606115558,0.0,6.490721649484536,2.5,8.0,71.25294070280572,orange_high_tension,False,,popmax_AF_gt_1e-4; global_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.25; detectability=0.81,3774534,3774534,Brugada syndrome 4,Brugada syndrome 4,Brugada syndrome 4,variation_id,-4.934344549462075,-3.705340393106432,1.2290041212231118,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,True,0.0001,0.2946596068935677,True,False,False,False,False,False,True,True,False,ancestry_concentrated,ancestry_concentrated|penetrance_boundary,0.0|10:18514531:g:t|snv,True,False +6:123547340:CT:C,TRDN,VCV001074440,1074440,NM_006073.4(TRDN):c.423del (p.Glu142fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.4587780046988007e-05,19.0,1302460.0,0.0001336541031809,3.0,amr,9.162058557802116,0.0001336541031809,popmax,19.0,True,True,False,False,False,0.390625,0.6043553875236295,25.33460173620717,19.67948888426708,4.809965315856219,3.0,4.834843100189036,3.90625,3.0,64.5651490365195,yellow_watchlist,False,,popmax_AF_gt_1e-4; global_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,1074440,1074440,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia,variation_id,-4.8360107935553724,-3.874017703862406,0.9619930631712436,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-0.8740177038624062,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,3.0|6:123547340:ct:c|deletion,False,False +1:115701413:C:T,CASQ2,VCV002565185,2565185,NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.425131422292673e-06,5.0,1459798.0,0.0001495662578522,5.0,afr,43.667292358899566,0.0001495662578522,popmax,5.0,True,True,True,False,False,0.5125,0.811340206185567,26.43375668955885,11.770381108229664,8.200781319116079,0.0,6.490721649484536,5.125,3.0,61.02064076638913,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=SNV; gene_constraint=0.51; detectability=0.81,2565185,2565185,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.46532275997258,-3.825166372256633,1.640156263823216,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-0.8251663722566326,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|1:115701413:c:t|snv,False,False +7:150950197:A:G,KCNH2,VCV001027323,1027323,NM_000238.4(KCNH2):c.2369T>C (p.Leu790Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,7.213041178450639e-06,9.0,1247740.0,0.0002143163309044,1.0,mid,29.71233587745845,0.0002143163309044,popmax,1.0,True,True,True,False,False,0.8263888888888888,0.811340206185567,29.94874352029472,4.55340497393906,7.364683979114753,0.0,6.490721649484536,8.26388888888889,3.0,59.62144301172195,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=SNV; gene_constraint=0.83; detectability=0.81,1027323,1027323,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id,-5.141881588463915,-3.668944734457764,1.472936795822951,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,0.3310552655422359,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,0.0|7:150950197:a:g|snv,True,False +6:123529317:C:T,TRDN,VCV002635811,2635811,NM_006073.4(TRDN):c.484+1189G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,5.012186774127951e-06,7.0,1396596.0,0.000112101339611,4.0,amr,22.36575037943466,0.000112101339611,popmax,4.0,True,True,True,False,True,0.390625,0.811340206185567,23.616243142180487,10.57267893638896,6.747917367491054,0.0,6.490721649484536,3.90625,8.0,59.33381109554504,yellow_watchlist,False,,popmax_AF_gt_1e-4; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,2635811,2635811,TRDN-related disorder,TRDN-related disorder,TRDN-related disorder,variation_id,-5.299972753826775,-3.950389197554991,1.3495834734982108,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-0.9503891975549912,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive,0.0|6:123529317:c:t|snv,False,False +7:150948439:CTCA:C,KCNH2,VCV003076015,3076015,NM_000238.4(KCNH2):c.2692+2_2692+4del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,2.7727944499746288e-06,4.0,1442588.0,6.611424541607899e-05,3.0,fin,23.84389602799007,6.611424541607899e-05,popmax,3.0,True,False,True,False,True,0.8263888888888888,0.6043553875236295,18.456638672735043,9.10680994787812,6.886886097038535,3.0,4.834843100189036,8.26388888888889,8.0,58.54906670672962,yellow_watchlist,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3076015,3076015,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,-5.557082323913123,-4.179704954447291,1.377377219407707,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.1797049544472912,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,3.0|7:150948439:ctca:c|deletion,True,False +1:115705205:TC:T,CASQ2,VCV001766367,1766367,NM_001232.4(CASQ2):c.925del (p.Asp309fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84958717538094e-07,1.0,1459942.0,0.0001734906315058,1.0,mid,253.28589121907208,0.0001734906315058,popmax,1.0,True,True,True,False,False,0.5125,0.6043553875236295,27.88371068312418,4.55340497393906,10.0,3.0,4.834843100189036,5.125,3.0,58.39695875725227,yellow_watchlist,False,,popmax_AF_gt_1e-4; type=deletion; gene_constraint=0.51; detectability=0.60,1766367,1766367,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.164335602647249,-3.760723972142199,2.403610998964032,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-0.7607239721421987,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,1:115705205:tc:t|3.0|deletion,False,False +11:2587679:AG:A,KCNQ1,VCV001395670,1395670,NM_000218.3(KCNQ1):c.1239del (p.Lys414fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.737022748764577e-06,4.0,1461442.0,8.944543828264758e-05,4.0,amr,32.67981847911294,8.944543828264758e-05,popmax,4.0,True,False,True,False,False,0.6403508771929824,0.6043553875236295,21.41005952936268,10.57267893638896,7.571398177836384,3.0,4.834843100189036,6.4035087719298245,3.0,56.79248851570687,yellow_watchlist,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.64; detectability=0.60,1395670,1395670,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,-5.562721592936289,-4.048441803550404,1.5142796355672767,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.0484418035504045,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,11:2587679:ag:a|3.0|deletion,True,False +6:123516188:TC:T,TRDN,VCV002682850,2682850,NM_006073.4(TRDN):c.502del (p.Glu168fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.751489341268484e-06,5.0,1332804.0,6.617783307303386e-05,5.0,sas,17.64041169053291,6.617783307303386e-05,popmax,5.0,True,False,True,False,True,0.390625,0.6043553875236295,18.46603235431506,11.770381108229664,6.232543582221728,3.0,4.834843100189036,3.90625,8.0,56.21005014495549,yellow_watchlist,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,2682850,2682850,,,,unmatched,-5.425796283129546,-4.179287457481868,1.2465087164443456,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,True,0.001,-1.1792874574818677,False,False,True,False,True,True,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision|sads_sensitive,3.0|6:123516188:tc:t|deletion,False,False +6:123516150:C:A,TRDN,VCV001427034,1427034,NM_006073.4(TRDN):c.541G>T (p.Glu181Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.79663424697027e-05,91.0,1338898.0,8.552347090760583e-05,89.0,nfe,1.2583209209383106,8.552347090760583e-05,popmax,91.0,True,False,False,True,False,0.390625,0.811340206185567,20.9719197711187,20.0,0.4989570863816855,0.0,6.490721649484536,3.90625,3.0,54.86784850698492,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,1427034,1427034,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-4.167706100505352,-4.067914681917243,0.0997914172763371,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.0679146819172425,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|6:123516150:c:a|snv,False,False +3:38580945:C:A,SCN5A,VCV003075756,3075756,NM_000335.5(SCN5A):c.3214G>T (p.Glu1072Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.068392073370004e-06,3.0,1450402.0,6.006366748753679e-05,2.0,afr,29.03880759457191,6.006366748753679e-05,popmax,2.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,17.518766713295044,7.216976134290603,7.314893895930626,0.0,6.490721649484536,6.637931034482759,8.0,53.17928942748357,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3075756,3075756,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,-5.684367135229046,-4.221388153306345,1.4629787791861253,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.2213881533063446,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|3:38580945:c:a|snv,True,False +6:123636725:T:C,TRDN,VCV001070395,1070395,NM_006073.4(TRDN):c.22+29A>G,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,5.278376069899409e-05,77.0,1458782.0,6.756756756756757e-05,75.0,nfe,1.2800824797762609,6.756756756756757e-05,popmax,77.0,True,False,False,True,False,0.390625,0.811340206185567,18.66911154823352,20.0,0.5361897676051981,0.0,6.490721649484536,3.90625,3.0,52.60227296532325,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,1070395,1070395,Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-4.277499670716243,-4.1702617153949575,0.1072379535210397,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.1702617153949573,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|6:123636725:t:c|snv,False,False +1:115768378:T:C,CASQ2,VCV000427946,427946,NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,3.078341745187184e-05,45.0,1461826.0,4.9675453702477146e-05,3.0,remaining,1.6137081974876168,4.9675453702477146e-05,popmax,45.0,True,False,False,True,False,0.5125,0.811340206185567,15.663191649724624,20.0,1.0391250259135152,0.0,6.490721649484536,5.125,3.0,51.31803832512267,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.51; detectability=0.81,427946,427946,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-4.5116831681918965,-4.303858157643766,0.207825005182703,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.3038581576437651,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115768378:t:c|snv,False,False +11:2768920:G:A,KCNQ1,VCV000871731,871731,NM_000218.3(KCNQ1):c.1590+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.053657975586114e-06,3.0,1460808.0,6.709308046696784e-05,3.0,amr,32.6700208089902,6.709308046696784e-05,popmax,3.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,18.600249121064188,9.10680994787812,7.570747055485044,0.0,6.490721649484536,6.4035087719298245,3.0,51.172036545841706,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,871731,871731,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,-5.687471883856611,-4.17332226775905,1.5141494110970088,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.1733222677590504,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|11:2768920:g:a|snv,True,False +6:123636745:TAGCAATACCTTC:T,TRDN,VCV002051520,2051520,NM_006073.4(TRDN):c.19_22+8del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,1.3703867642564762e-06,2.0,1459442.0,5.052801778586226e-05,2.0,eas,36.871329490654766,5.052801778586226e-05,popmax,2.0,True,False,True,False,True,0.390625,0.6043553875236295,15.829476070387653,7.216976134290603,7.833443987467161,3.0,4.834843100189036,3.90625,8.0,50.62098929233445,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,2051520,2051520,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.863156844612114,-4.296467738800115,1.5666887974934325,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.2964677388001151,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,3.0|6:123636745:tagcaataccttc:t|deletion,False,False +12:2651596:CT:C,CACNA1C,VCV002632714,2632714,NM_000719.7(CACNA1C):c.3946-43del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,2.0525170701003e-06,3.0,1461620.0,3.747423646243208e-05,2.0,fin,18.257689424678656,3.747423646243208e-05,popmax,2.0,True,False,True,False,True,0.7307692307692307,0.6043553875236295,12.908988100114692,7.216976134290603,6.307229075847438,3.0,4.834843100189036,7.3076923076923075,8.0,49.57572871813407,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.73; detectability=0.60,2632714,2632714,CACNA1C-related disorder,CACNA1C-related disorder,CACNA1C-related disorder,variation_id,-5.687713222311061,-4.426267207139606,1.2614458151694876,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,True,0.0001,-0.4262672071396062,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,12:2651596:ct:c|3.0|deletion,True,False +1:115705191:C:A,CASQ2,VCV000519365,519365,NM_001232.4(CASQ2):c.939+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.1733855056306896e-05,46.0,1449556.0,4.178991663820107e-05,46.0,nfe,1.316887477023001,4.178991663820107e-05,popmax,46.0,True,False,False,True,False,0.5125,0.811340206185567,13.974109092309089,20.0,0.5977433387582941,0.0,6.490721649484536,5.125,3.0,49.18757408055192,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.51; detectability=0.81,519365,519365,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,variation_id,-4.498477166223447,-4.37892849517859,0.1195486677516588,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.3789284951785896,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115705191:c:a|snv,False,False +1:115705294:T:C,CASQ2,VCV001523438,1523438,NM_001232.4(CASQ2):c.839-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3783198556623447e-06,2.0,1451042.0,4.473272198613286e-05,2.0,amr,32.45450636719618,4.473272198613286e-05,popmax,2.0,True,False,True,False,True,0.5125,0.811340206185567,14.639070048853554,7.216976134290603,7.556375039507466,0.0,6.490721649484536,5.125,8.0,49.02814287213616,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1523438,1523438,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.860649987486544,-4.349374674204051,1.5112750079014932,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.3493746742040509,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,0.0|1:115705294:t:c|snv,False,False +3:38608210:AT:A,SCN5A,VCV004756593,4756593,NM_000335.5(SCN5A):c.938del (p.Asn313fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.876056334154334e-07,1.0,1454322.0,3.8337678270203954e-05,1.0,asj,55.75524930551588,3.8337678270203954e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.6043553875236295,13.13158094533609,4.55340497393906,8.731428810358667,3.0,4.834843100189036,6.637931034482759,8.0,48.88918886430561,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,4756593,4756593,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-6.162660573882579,-4.4163741915354215,1.7462857620717334,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.416374191535422,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,3.0|3:38608210:at:a|deletion,True,False +1:115768444:C:T,CASQ2,VCV000862119,862119,NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.0267488613355128e-05,15.0,1460922.0,3.827311696264544e-05,1.0,asj,3.727602306299179,3.827311696264544e-05,popmax,15.0,True,False,False,False,False,0.5125,0.811340206185567,13.115111488979696,18.21361989575624,2.857147858816272,0.0,6.490721649484536,5.125,3.0,48.80160089303674,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,862119,862119,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia,variation_id,-4.988535770106624,-4.417106167392593,0.5714295717632544,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.4171061673925929,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115768444:c:t|snv,False,False +11:2570686:G:C,KCNQ1,VCV000378906,378906,NM_000218.3(KCNQ1):c.536G>C (p.Gly179Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.054848002893226e-06,3.0,1459962.0,3.8743171516020304e-05,2.0,fin,18.854510701988296,3.8743171516020304e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,13.234391558868406,7.216976134290603,6.377076332028593,0.0,6.490721649484536,6.4035087719298245,8.0,47.72267444660197,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,378906,378906,,,,unmatched,-5.687220297362662,-4.411804830815424,1.2754152664057186,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.4118048308154233,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,0.0|11:2570686:g:c|snv,True,False +11:2445144:GGT:G,KCNQ1,VCV002744490,2744490,NM_000218.3(KCNQ1):c.47_48del (p.Gly16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.0193098049448758e-06,1.0,981056.0,3.807493146512336e-05,1.0,sas,37.35360429852644,3.807493146512336e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,13.064380687913092,4.55340497393906,7.861662569102269,3.0,4.834843100189036,6.4035087719298245,8.0,47.71780010307328,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,2744490,2744490,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.991693798202426,-4.419360869721284,1.5723325138204538,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.4193608697212837,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,11:2445144:ggt:g|3.0|deletion,True,False +4:113355492:C:T,ANK2,VCV004081881,4081881,NM_001148.6(ANK2):c.6874C>T (p.Arg2292Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,1.3682492293336216e-06,2.0,1461722.0,3.8267258533598655e-05,1.0,asj,27.96802712924517,3.8267258533598655e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,13.113615641202188,4.55340497393906,7.233309161120902,0.0,6.490721649484536,6.136363636363637,10.0,47.52741506211032,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,4081881,4081881,,,,unmatched,-5.863834787801755,-4.417172649517775,1.4466618322241802,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.4171726495177749,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|4:113355492:c:t|snv,False,False +1:115740767:G:A,CASQ2,VCV000801535,801535,NM_001232.4(CASQ2):c.381C>T (p.Gly127=),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,8.897357347985227e-06,13.0,1461108.0,6.707807888382076e-05,3.0,amr,7.5391006251884125,6.707807888382076e-05,popmax,3.0,True,False,True,False,False,0.5125,0.811340206185567,18.59806400383485,9.10680994787812,4.386597699630847,0.0,6.490721649484536,5.125,3.0,46.70719330082835,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,801535,801535,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.050738966345133,-4.173419384081802,0.8773195399261694,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.173419384081802,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115740767:g:a|snv,False,False +6:123571097:T:TAAAA,TRDN,VCV001749169,1749169,NM_006073.4(TRDN):c.57_58insTTTT (p.Lys20delinsPheTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,1.573551204040332e-05,23.0,1461662.0,2.9870362626202283e-05,1.0,afr,1.898277072346201,2.9870362626202283e-05,popmax,23.0,True,False,False,True,False,0.390625,0.5866666666666666,10.692911463985178,20.0,1.391798011501853,3.0,4.6933333333333325,3.90625,3.0,46.684292808820366,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=insertion; gene_constraint=0.39; detectability=0.59,1749169,1749169,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-4.803119120389559,-4.524759505028858,0.2783596023003706,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.524759505028858,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,3.0|6:123571097:t:taaaa|insertion,False,False +15:73343470:C:T,HCN4,VCV001514023,1514023,NM_005477.3(HCN4):c.1124G>A (p.Arg375His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0521436008006096e-06,3.0,1461886.0,3.744056310606911e-05,2.0,fin,18.24460327574495,3.744056310606911e-05,popmax,2.0,True,False,True,False,True,0.5,0.811340206185567,12.900203628834737,7.216976134290603,6.305672120901788,0.0,6.490721649484536,5.0,8.0,45.91357353351166,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,1514023,1514023,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,-5.687792252306214,-4.426657628095805,1.2611344241803577,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,True,0.0001,-0.4266576280958051,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,0.0|15:73343470:c:t|snv,False,False +7:150947326:A:G,KCNH2,VCV000373047,373047,NM_000238.4(KCNH2):c.3152+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.203770165153635e-07,1.0,1388162.0,2.8064660978895374e-05,1.0,amr,38.95824322159453,2.8064660978895374e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,10.083595855158398,4.55340497393906,7.952996823120984,0.0,6.490721649484536,8.26388888888889,8.0,45.34460819059187,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,373047,373047,,,,unmatched,-6.1424401517100575,-4.551840199689963,1.590599364624197,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.551840199689963,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,0.0|7:150947326:a:g|snv,True,False +3:38575364:T:TG,SCN5A,VCV000924057,924057,NM_000335.5(SCN5A):c.3595dup (p.His1199fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.851933821282381e-07,1.0,1459442.0,3.832592365476008e-05,1.0,asj,55.9343824970053,3.832592365476008e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.382680412371134,13.128584433326132,4.55340497393906,8.738394239650557,6.0,3.0614432989690723,6.637931034482759,3.0,45.11975798036759,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.66; detectability=0.38,924057,924057,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-6.164186840276095,-4.41650736985045,1.7476788479301115,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.41650736985045,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,3:38575364:t:tg|6.0|duplication,True,False +11:2572072:G:GGA,KCNQ1,VCV001455898,1455898,NM_000218.3(KCNQ1):c.745_746dup (p.Leu250fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.84671706763324e-07,1.0,1460554.0,3.828190797029324e-05,1.0,asj,55.91271361066016,3.828190797029324e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,13.117355690081434,4.55340497393906,8.737552851879759,6.0,3.0614432989690723,6.4035087719298245,3.0,44.87326558679914,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,1455898,1455898,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,-6.16451761846019,-4.417006425118799,1.747510570375952,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.4170064251187987,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,11:2572072:g:gga|6.0|duplication,True,False +3:38608150:C:A,SCN5A,VCV002452890,2452890,NM_000335.5(SCN5A):c.998+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.903779266846257e-07,1.0,1448482.0,3.0111412225233363e-05,1.0,afr,43.61577687464475,3.0111412225233363e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,10.77145062355202,4.55340497393906,8.198218062193659,0.0,6.490721649484536,6.637931034482759,8.0,44.65172634365204,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2452890,2452890,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.160913102681482,-4.521268875598385,1.6396436124387317,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.5212688755983852,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive,0.0|3:38608150:c:a|snv,True,False +6:123512325:T:TG,TRDN,VCV003673082,3673082,NM_006073.4(TRDN):c.587dup (p.Glu197fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.1833916893360138e-05,16.0,1352046.0,1.5570594154409688e-05,16.0,nfe,1.3157599448231894,1.5570594154409688e-05,popmax,16.0,True,False,False,False,True,0.390625,0.382680412371134,4.3268672904939125,18.61187363214038,0.5958833060079006,6.0,3.0614432989690723,3.90625,8.0,44.50231752761127,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,3673082,3673082,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-4.92687148498987,-4.807694814981124,0.1191766612015801,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.8076948149811245,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,6.0|6:123512325:t:tg|duplication,False,False +11:2572900:T:A,KCNQ1,VCV000375594,375594,NM_000218.3(KCNQ1):c.835T>A (p.Phe279Ile),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,1.3684626827068738e-06,2.0,1461494.0,2.3186792802819512e-05,2.0,sas,16.943667629494662,2.3186792802819512e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,8.217915747967623,7.216976134290603,6.145037118180784,0.0,6.490721649484536,6.4035087719298245,10.0,44.47415942185337,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,375594,375594,Short QT syndrome type 2,Short QT syndrome type 2,Short QT syndrome type 2,variation_id,-5.863767041085759,-4.63475931882058,1.2290074236361568,anchored_exact,1.0,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6347593188205799,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,0.0|11:2572900:t:a|snv,True,False +7:150947380:GCCGC:G,KCNH2,VCV001454593,1454593,NM_000238.4(KCNH2):c.3096_3099del (p.Arg1033fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.432334375595314e-06,2.0,1396322.0,3.980891719745223e-05,1.0,asj,27.793014733652488,3.980891719745223e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,13.499558456497171,4.55340497393906,7.219678288254904,3.0,4.834843100189036,8.26388888888889,3.0,44.37137370776905,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,1454593,1454593,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.843955585014026,-4.400019635065158,1.443935657650981,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.4000196350651585,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,3.0|7:150947380:gccgc:g|deletion,True,False +4:113373174:G:T,ANK2,VCV003023363,3023363,NM_001148.6(ANK2):c.11694+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843090668214118e-07,1.0,1461328.0,2.988464526926065e-05,1.0,afr,43.6712065454092,2.988464526926065e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,10.697582692286032,4.55340497393906,8.200975953741672,0.0,6.490721649484536,6.136363636363637,8.0,44.07904890581493,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3023363,3023363,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.1647477057374,-4.524551894875205,1.6401951907483343,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.5245518948752048,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|4:113373174:g:t|snv,False,False +6:123516183:C:CT,TRDN,VCV002980846,2980846,NM_006073.4(TRDN):c.507dup (p.Gly170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.506995472985599e-06,2.0,1327144.0,2.676874481355569e-05,2.0,sas,17.762978409977666,2.676874481355569e-05,popmax,2.0,True,False,True,False,True,0.390625,0.382680412371134,9.621630535950798,7.216976134290603,6.247578939692527,6.0,3.0614432989690723,3.90625,8.0,44.053878908903,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,2980846,2980846,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.821888052304033,-4.572371992403904,1.2495157879385057,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.5723719924039032,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,6.0|6:123516183:c:ct|duplication,False,False +7:150948445:CTTGT:C,KCNH2,VCV003076018,3076018,NM_000238.4(KCNH2):c.2687_2690del (p.Asp896fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3790573591327384e-06,2.0,1450266.0,2.520923666431381e-05,1.0,eas,18.280036879778883,2.520923666431381e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.6043553875236295,9.035093534989963,4.55340497393906,6.309885337915842,3.0,4.834843100189036,8.26388888888889,8.0,43.99711583592279,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3076018,3076018,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,-5.860417669838094,-4.598440304561373,1.2619770675831683,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5984403045613724,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,3.0|7:150948445:cttgt:c|deletion,True,False +11:2587636:GC:G,KCNQ1,VCV003720989,3720989,NM_000218.3(KCNQ1):c.1201del (p.Arg401fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.368365309750013e-06,2.0,1461598.0,2.31862551879246e-05,2.0,sas,16.94448045286974,2.31862551879246e-05,popmax,2.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,8.217689177940336,7.216976134290603,6.145141285781141,3.0,4.834843100189036,6.4035087719298245,8.0,43.81815847013094,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,3720989,3720989,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.863797944407404,-4.634769388600005,1.229028257156228,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6347693886000046,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,11:2587636:gc:g|3.0|deletion,True,False +6:123516189:C:A,TRDN,VCV000838068,838068,NM_006073.4(TRDN):c.502G>T (p.Glu168Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.0270178963157825e-05,27.0,1332006.0,2.603458550047152e-05,27.0,nfe,1.2843786561239623,2.603458550047152e-05,popmax,27.0,True,False,False,True,False,0.390625,0.811340206185567,9.349890396693658,20.0,0.5434653991227222,0.0,6.490721649484536,3.90625,3.0,43.29032744530092,blue_low_support_signal,False,,popmax_AF_gt_1e-5; global_AF_gt_1e-5; AC_ge_20; type=SNV; gene_constraint=0.39; detectability=0.81,838068,838068,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,-4.693142416952339,-4.584449332383948,0.1086930798245443,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.584449332383948,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|6:123516189:c:a|snv,False,False +12:2593260:C:T,CACNA1C,VCV004055971,4055971,NM_000719.7(CACNA1C):c.2578C>T (p.Arg860Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842753524018065e-07,1.0,1461400.0,3.827018752391887e-05,1.0,asj,55.92797177571708,3.827018752391887e-05,popmax,1.0,True,False,True,False,False,0.7307692307692307,0.811340206185567,13.114363536467756,4.55340497393906,8.738145349762476,0.0,6.490721649484536,7.3076923076923075,3.0,43.20432781734613,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.73; detectability=0.81,4055971,4055971,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164769103009198,-4.4171394097273255,1.7476290699524952,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,True,0.0001,-0.4171394097273256,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|12:2593260:c:t|snv,True,False +3:38566555:G:A,SCN5A,VCV000440848,440848,NM_198056.2(SCN5A):c.[3694C>T;4859C>T],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,3.4209226365187595e-06,5.0,1461594.0,2.9870362626202283e-05,1.0,afr,8.731666298344887,2.9870362626202283e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,10.692911463985178,4.55340497393906,4.705485648723811,0.0,6.490721649484536,6.637931034482759,10.0,43.08045477061535,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,440848,440848,,,,unmatched,-5.465856747186733,-4.524759505028858,0.9410971297447622,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,0.0773004862991042,True,False,True,False,True,True,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision|sads_sensitive,0.0|3:38566555:g:a|snv,True,False +7:150952752:C:T,KCNH2,VCV003381030,3381030,NM_000238.4(KCNH2):c.1230G>A (p.Trp410Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840469310918484e-07,1.0,1461888.0,2.235935962794025e-05,1.0,amr,32.686833205169094,2.235935962794025e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,7.86283606399323,4.55340497393906,7.571864234571959,0.0,6.490721649484536,8.26388888888889,8.0,42.74271581087767,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3381030,3381030,,,,unmatched,-6.164914101181898,-4.6505406388014645,1.5143728469143918,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6505406388014646,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,0.0|7:150952752:c:t|snv,True,False +3:38613742:C:A,SCN5A,VCV001171509,1171509,NM_000335.5(SCN5A):c.703+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.932745436520316e-07,1.0,1442430.0,2.56068831301854e-05,1.0,eas,36.93608459818682,2.56068831301854e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,9.188026567224757,4.55340497393906,7.837254281248514,0.0,6.490721649484536,6.637931034482759,8.0,42.70733850637963,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1171509,1171509,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-6.15909474636754,-4.591643280638968,1.5674508562497027,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.5916432806389674,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|3:38613742:c:a|snv,True,False +3:38581117:TGGGGGTGGCGGGGAGTA:T,SCN5A,VCV002754396,2754396,NM_000335.5(SCN5A):c.3025_3041del (p.Tyr1009fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.972392116176787e-07,1.0,1434228.0,2.27004449287206e-05,1.0,amr,32.557568468480774,2.27004449287206e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.6043553875236295,8.01077374304839,4.55340497393906,7.563259812757562,3.0,4.834843100189036,6.637931034482759,8.0,42.60021266441681,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,2754396,2754396,,,,unmatched,-6.156618196848443,-4.643965630551612,1.5126519625515125,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.6439656305516117,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive,3.0|3:38581117:tgggggtggcggggagta:t|deletion,True,False +3:38587561:TC:T,SCN5A,VCV001214434,1214434,NM_000335.5(SCN5A):c.2274del (p.Ile759fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.052421583812688e-06,3.0,1461688.0,3.3126842680624107e-05,2.0,remaining,16.140362097890165,3.3126842680624107e-05,popmax,2.0,True,False,True,False,False,0.6637931034482759,0.6043553875236295,11.70405131304097,7.216976134290603,6.039566367962358,3.0,4.834843100189036,6.637931034482759,3.0,42.43336794996573,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.66; detectability=0.60,1214434,1214434,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-5.687733426836054,-4.479819954752671,1.2079132735924716,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.479819954752671,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive,3.0|3:38587561:tc:t|deletion,True,False +11:2572110:G:A,KCNQ1,VCV001067403,1067403,NM_000218.3(KCNQ1):c.780+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.854366642813471e-07,1.0,1458924.0,2.520034272466105e-05,1.0,eas,36.76533263033125,2.520034272466105e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,9.031645450357535,4.55340497393906,7.827192497787115,0.0,6.490721649484536,6.4035087719298245,8.0,42.30647334349807,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,1067403,1067403,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164032668699268,-4.598593552773338,1.5654384995574229,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5985935527733383,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,0.0|11:2572110:g:a|snv,True,False +11:2583509:CTCTG:C,KCNQ1,VCV002830594,2830594,NM_000218.3(KCNQ1):c.1000_1003del (p.Val334fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841311671004058e-07,1.0,1461708.0,2.235935962794025e-05,1.0,amr,32.68280853202259,2.235935962794025e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,7.86283606399323,4.55340497393906,7.571596848474263,3.0,4.834843100189036,6.4035087719298245,8.0,42.226189758525415,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,2830594,2830594,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164860623884185,-4.6505406388014645,1.5143193696948525,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6505406388014646,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,11:2583509:ctctg:c|3.0|deletion,True,False +1:237795312:A:C,RYR2,VCV000852605,852605,NM_001035.3(RYR2):c.13937A>C (p.Asp4646Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,9.531449812945298e-06,12.0,1258990.0,1.2573555298496204e-05,12.0,nfe,1.319164998619016,1.2573555298496204e-05,popmax,12.0,True,False,True,False,True,0.8035714285714286,0.811340206185567,2.237807940724398,16.849600618345303,0.601495598308596,0.0,6.490721649484536,8.035714285714286,8.0,42.21534009257712,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,852605,852605,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.020841034527222,-4.900541903841445,0.1202991196617191,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-0.2984819125134828,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,0.0|1:237795312:a:c|snv,True,False +1:115727014:C:A,CASQ2,VCV001757434,1757434,NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.2557001542898904e-06,3.0,1329964.0,3.53090720775858e-05,3.0,sas,15.653258416096053,3.53090720775858e-05,popmax,3.0,True,False,True,False,False,0.5125,0.811340206185567,12.327442126962277,9.10680994787812,5.9730237748543935,0.0,6.490721649484536,5.125,3.0,42.022997499179326,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,1757434,1757434,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-5.646718630748966,-4.452113695545919,1.1946047549708787,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.4521136955459195,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,0.0|1:115727014:c:a|snv,False,False +7:150947827:GC:G,KCNH2,VCV001420193,1420193,NM_000238.4(KCNH2):c.2743del (p.Ala915fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.281115117342451e-07,1.0,1373416.0,2.8638524543215534e-05,1.0,fin,39.3325551775003,2.8638524543215534e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,10.281389726816125,4.55340497393906,7.973760802916131,3.0,4.834843100189036,8.26388888888889,3.0,41.90728749274924,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,1420193,1420193,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id,-6.137802102524645,-4.543049360639533,1.5947521605832262,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5430493606395334,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,3.0|7:150947827:gc:g|deletion,True,False +12:2593252:C:G,CACNA1C,VCV000633643,633643,NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842613057074236e-07,1.0,1461430.0,2.2369362920544025e-05,1.0,amr,32.691211738483084,2.2369362920544025e-05,popmax,1.0,True,False,True,False,True,0.7307692307692307,0.811340206185567,7.8672067870637745,4.55340497393906,7.572155092590362,0.0,6.490721649484536,7.3076923076923075,8.0,41.79118081077004,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,633643,633643,Long QT syndrome 8|Long QT syndrome,Long QT syndrome 8|Long QT syndrome,Long QT syndrome 8|Long QT syndrome,variation_id,-6.164778018227981,-4.650346384434088,1.5144310185180725,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,True,0.0001,-0.6503463844340879,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|12:2593252:c:g|snv,True,False +4:113356680:C:T,ANK2,VCV003906496,3906496,NM_001148.6(ANK2):c.8062C>T (p.Arg2688Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052244676819349e-06,3.0,1461814.0,2.987571701720841e-05,1.0,afr,14.557573859047409,2.987571701720841e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,10.69466291292472,4.55340497393906,5.815445011071998,0.0,6.490721649484536,6.136363636363637,8.0,41.69059818378395,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3906496,3906496,,,,unmatched,-5.6877708621480565,-4.524681662851162,1.1630890022143996,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.5246816628511615,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|4:113356680:c:t|snv,False,False +21:34449497:G:T,KCNE1,VCV000547162,547162,NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.000828228591091e-06,3.0,999724.0,2.9429942023014216e-05,2.0,sas,9.807270184725496,2.9429942023014216e-05,popmax,2.0,True,False,True,False,True,0.4166666666666667,0.811340206185567,10.547761979187364,7.216976134290603,4.95774070015624,0.0,6.490721649484536,4.166666666666667,8.0,41.37986712978541,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,547162,547162,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5|Long QT syndrome,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5|Long QT syndrome,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5|Long QT syndrome,variation_id,-5.52275886345888,-4.531210593459676,0.991548140031248,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,0.0708493978682867,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary,0.0|21:34449497:g:t|snv,True,False +1:115726996:G:A,CASQ2,VCV000859128,859128,NM_001232.4(CASQ2):c.733C>T (p.Gln245Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.6498437597959474e-06,2.0,1212236.0,2.4118469924268005e-05,2.0,sas,14.618630499060393,2.4118469924268005e-05,popmax,2.0,True,False,True,False,True,0.5125,0.811340206185567,8.602869840903006,7.216976134290603,5.82453344499717,0.0,6.490721649484536,5.125,8.0,41.26010106967532,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,859128,859128,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,-5.782557181526257,-4.617650247299917,1.1649066889994342,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.617650247299917,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,0.0|1:115726996:g:a|snv,False,False +11:2775959:G:A,KCNQ1,VCV000666975,666975,NM_000218.3(KCNQ1):c.1591-1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.4245501270698712e-06,2.0,1403952.0,3.968253968253968e-05,1.0,asj,27.85617162380255,3.968253968253968e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,13.468488078660226,4.55340497393906,7.224607147499393,0.0,6.490721649484536,6.4035087719298245,3.0,41.14073062151304,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,666975,666975,Congenital long QT syndrome|Long QT syndrome,Congenital long QT syndrome|Long QT syndrome,Congenital long QT syndrome|Long QT syndrome,variation_id,-5.846322264201398,-4.401400540781544,1.444921429499879,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.4014005407815441,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,0.0|11:2775959:g:a|snv,True,False +3:38580930:C:T,SCN5A,VCV004614938,4614938,NM_000335.5(SCN5A):c.3228+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.386107049047398e-06,2.0,1442890.0,2.540779511154022e-05,1.0,eas,18.330314241376573,2.540779511154022e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.811340206185567,9.111757403326108,4.55340497393906,6.3158495512502615,0.0,6.490721649484536,6.637931034482759,8.0,41.109664612482725,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4614938,4614938,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-5.858203227866139,-4.595033021389579,1.2631699102500522,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.5950330213895793,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive,0.0|3:38580930:c:t|snv,True,False +7:150947785:TC:T,KCNH2,VCV000972416,972416,NM_000238.4(KCNH2):c.2785del (p.Glu929fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.232300030520306e-07,1.0,1382686.0,2.6745119015779625e-05,1.0,fin,36.98005188233825,2.6745119015779625e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,9.613002399391142,4.55340497393906,7.839837580654089,3.0,4.834843100189036,8.26388888888889,3.0,41.10497694306222,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,972416,972416,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.140723565539252,-4.57275546515422,1.567967516130818,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5727554651542196,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,3.0|7:150947785:tc:t|deletion,True,False +1:115717895:C:T,CASQ2,VCV002914884,2914884,NM_001232.4(CASQ2):c.784-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.873948285912256e-07,1.0,1454768.0,2.5218136884047006e-05,1.0,eas,36.68648664297249,2.5218136884047006e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,9.038542836767386,4.55340497393906,7.822530613204668,0.0,6.490721649484536,5.125,8.0,41.03020007339565,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2914884,2914884,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.162793739470749,-4.598287002254073,1.5645061226409336,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.5982870022540738,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,0.0|1:115717895:c:t|snv,False,False +1:115744827:C:G,CASQ2,VCV001515619,1515619,NM_001232.4(CASQ2):c.319+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.866537850416593e-07,1.0,1456338.0,2.521050773962588e-05,1.0,eas,36.71496840744561,2.521050773962588e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,9.03558621784762,4.55340497393906,7.824215794207941,0.0,6.490721649484536,5.125,8.0,41.028928635479154,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1515619,1515619,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.163262181638569,-4.598418407544608,1.564843158841588,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.5984184075446082,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,0.0|1:115744827:c:g|snv,False,False +11:2570755:G:A,KCNQ1,VCV000926958,926958,NM_000218.3(KCNQ1):c.604+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.371599119982005e-06,2.0,1458152.0,2.5191455058444177e-05,1.0,eas,18.366472626711847,2.5191455058444177e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,9.028198582011438,4.55340497393906,6.320128779391975,0.0,6.490721649484536,6.4035087719298245,8.0,40.79596275675683,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,926958,926958,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-5.862772802200343,-4.598746746928134,1.264025755878395,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5987467469281339,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,0.0|11:2570755:g:a|snv,True,False +4:113232260:G:A,ANK2,VCV002101362,2101362,NM_001148.6(ANK2):c.483+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.081932291061752e-07,1.0,1412044.0,2.239741981723705e-05,1.0,amr,31.6260990230113,2.239741981723705e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,7.879455222339948,4.55340497393906,7.500228132000161,0.0,6.490721649484536,6.136363636363637,8.0,40.560173614127336,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2101362,2101362,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.1498482297607415,-4.649802009508604,1.500045626400032,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.6498020095086041,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|4:113232260:g:a|snv,False,False +1:115727123:CTGTAACCATT:C,CASQ2,VCV003019374,3019374,NM_001232.4(CASQ2):c.607-11_607-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,8.92116979868351e-06,13.0,1457208.0,1.173325438959098e-05,13.0,nfe,1.3152147464010495,1.173325438959098e-05,popmax,13.0,True,False,True,False,True,0.5125,0.6043553875236295,1.5619167845981994,17.336428839648455,0.5949833480172113,3.0,4.834843100189036,5.125,8.0,40.4531720724529,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.51; detectability=0.60,3019374,3019374,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.049578194524858,-4.930581513254062,0.1189966696034422,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.9305815132540616,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,1:115727123:ctgtaaccatt:c|3.0|deletion,False,False +7:150958081:CG:C,KCNH2,VCV001076966,1076966,NM_000238.4(KCNH2):c.893del (p.Pro298fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.5673706872718e-06,4.0,1121274.0,3.380434047731729e-05,1.0,sas,9.475979640116968,3.380434047731729e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.6043553875236295,11.901880802626826,4.55340497393906,4.883120594680425,3.0,4.834843100189036,8.26388888888889,3.0,40.43713836032424,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.83; detectability=0.60,1076966,1076966,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,variation_id,-5.447651760560098,-4.471027532730552,0.976624118936085,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,0.1310324585974109,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary,3.0|7:150958081:cg:c|deletion,True,False +4:113282823:T:C,ANK2,VCV002664649,2664649,NM_001148.6(ANK2):c.2030T>C (p.Met677Thr),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,2.0523373385836683e-06,3.0,1461748.0,2.237236565394425e-05,1.0,amr,10.90091542575946,2.237236565394425e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,7.868518385294778,4.55340497393906,5.187314851016116,0.0,6.490721649484536,6.136363636363637,10.0,40.23632349609812,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2664649,2664649,,,,unmatched,-5.687751253577545,-4.650288091176771,1.0374629702032232,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.6502880911767708,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|4:113282823:t:c|snv,False,False +3:38551291:A:AAGTT,SCN5A,VCV001457006,1457006,NM_000335.5(SCN5A):c.5074_5077dup (p.Phe1693Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.840441235821475e-07,1.0,1461894.0,1.6557387906483872e-05,1.0,remaining,24.20511211274717,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.6637931034482759,0.382680412371134,4.927316620159899,4.55340497393906,6.919535492689683,6.0,3.0614432989690723,6.637931034482759,8.0,40.09963142024048,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.66; detectability=0.38,1457006,1457006,,,,unmatched,-6.164915883645086,-4.7810081764447645,1.3839070985379367,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,True,0.0001,-0.7810081764447644,True,False,True,False,True,True,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision|sads_sensitive,3:38551291:a:aagtt|6.0|duplication,True,False +11:2847865:C:CA,KCNQ1,VCV000405260,405260,NM_000218.3(KCNQ1):c.1894dup (p.Arg632fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,7.015476140365646e-07,1.0,1425420.0,2.484225170169424e-05,1.0,amr,35.410593371081,2.484225170169424e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,8.891796942507975,4.55340497393906,7.745666021199067,6.0,3.0614432989690723,6.4035087719298245,3.0,39.655820008545,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,405260,405260,Long QT syndrome||Cardiac arrhythmia,Long QT syndrome||Cardiac arrhythmia,Long QT syndrome||Cardiac arrhythmia,variation_id,-6.153942848068836,-4.604809042259513,1.5491332042398134,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6048090422595129,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,11:2847865:c:ca|6.0|duplication,True,False +3:38581292:ATC:A,SCN5A,VCV000418944,418944,NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.791389735748012e-06,7.0,1460954.0,3.826432999158185e-05,1.0,asj,7.986059393172863,3.826432999158185e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.6043553875236295,13.112867803174236,4.55340497393906,4.511662678822849,3.0,4.834843100189036,6.637931034482759,3.0,39.65070959060794,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.66; detectability=0.60,418944,418944,Cardiac arrhythmia|Cardiovascular phenotype|Brugada syndrome|Long QT syndrome 3,Cardiac arrhythmia|Cardiovascular phenotype|Brugada syndrome|Long QT syndrome 3,Cardiac arrhythmia|Cardiovascular phenotype|Brugada syndrome|Long QT syndrome 3,variation_id,-5.319538501819648,-4.4172058867643305,0.9023325357645696,anchored_exact,1.0,Brugada|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,0.1848541045636321,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,3.0|3:38581292:atc:a|deletion,True,False +1:115705275:C:A,CASQ2,VCV000651334,651334,NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.846004603253495e-07,1.0,1460706.0,2.2361359570661896e-05,1.0,amr,32.66332584221321,2.2361359570661896e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,7.8637100522238415,4.55340497393906,7.570302016728117,0.0,6.490721649484536,5.125,8.0,39.60313869237555,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,651334,651334,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.164562813178434,-4.650501794878367,1.5140604033456235,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.650501794878367,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,0.0|1:115705275:c:a|snv,False,False +1:115705293:C:G,CASQ2,VCV004778592,4778592,NM_001232.4(CASQ2):c.839-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.880825478871049e-07,1.0,1453314.0,2.236736154603203e-05,1.0,amr,32.50675388870347,2.236736154603203e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,7.866332486038185,4.55340497393906,7.559868015950208,0.0,6.490721649484536,5.125,8.0,39.59532712541199,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,4778592,4778592,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.162359457198581,-4.650385242259184,1.5119736031900417,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.6503852422591847,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,0.0|1:115705293:c:g|snv,False,False +3:38551460:G:A,SCN5A,VCV000523778,523778,NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.104371429196857e-06,6.0,1461856.0,3.311587243765937e-05,2.0,remaining,8.068437747531474,3.311587243765937e-05,popmax,2.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,11.70081481806312,7.216976134290603,4.5339472626392565,0.0,6.490721649484536,6.637931034482759,3.0,39.58039089896028,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,523778,523778,Brugada syndrome|Cardiovascular phenotype,Brugada syndrome|Cardiovascular phenotype,Brugada syndrome|Cardiovascular phenotype,variation_id,-5.386753344204365,-4.479963798978251,0.9067894525278514,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,0.1220961923497107,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,0.0|3:38551460:g:a|snv,True,False +3:38603712:C:T,SCN5A,VCV000505275,505275,NM_000335.5(SCN5A):c.1890G>A (p.Thr630=),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,1.4756161804265416e-06,2.0,1355366.0,3.419271011420365e-05,1.0,amr,23.17180334286967,3.419271011420365e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,12.013504583463668,4.55340497393906,6.824799170111071,0.0,6.490721649484536,6.637931034482759,3.0,39.5203614114811,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,505275,505275,Cardiovascular phenotype|Cardiac arrhythmia|Brugada syndrome 1||Brugada syndrome,Cardiovascular phenotype|Cardiac arrhythmia|Brugada syndrome 1||Brugada syndrome,Cardiovascular phenotype|Cardiac arrhythmia|Brugada syndrome 1||Brugada syndrome,variation_id,-5.831026591293273,-4.466066475658547,1.3649598340222142,anchored_exact,1.0,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.4660664756585466,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|3:38603712:c:t|snv,True,False +15:73329724:C:A,HCN4,VCV000404118,404118,NM_005477.3(HCN4):c.1439G>T (p.Gly480Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840693919991244e-07,1.0,1461840.0,2.236235967619303e-05,1.0,amr,32.69014554312366,2.236235967619303e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,7.864147075654932,4.55340497393906,7.572084270756659,0.0,6.490721649484536,5.0,8.0,39.48035796983519,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,404118,404118,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,-6.164899841213027,-4.650482371613895,1.514416854151332,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,True,0.0001,-0.6504823716138943,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,0.0|15:73329724:c:a|snv,False,False +6:123377715:C:A,TRDN,VCV003780742,3780742,NM_006073.4(TRDN):c.1246+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.053511778943564e-06,3.0,1460912.0,2.990251779199809e-05,1.0,afr,14.561642420059124,2.990251779199809e-05,popmax,1.0,True,False,True,False,True,0.390625,0.811340206185567,10.70342486961894,4.55340497393906,5.816051810922391,0.0,6.490721649484536,3.90625,8.0,39.469853303964925,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3780742,3780742,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.687502801690036,-4.524292242540612,1.1632103621844785,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.5242922425406118,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,0.0|6:123377715:c:a|snv,False,False +6:123530549:CTT:C,TRDN,VCV001403180,1403180,NM_006073.4(TRDN):c.439_440del (p.Lys147fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,9.0703770555742e-07,1.0,1102490.0,2.2095541119802024e-05,1.0,remaining,24.360087374907803,2.2095541119802024e-05,popmax,1.0,True,False,True,False,True,0.390625,0.6043553875236295,7.746854885003509,4.55340497393906,6.933394208468446,3.0,4.834843100189036,3.90625,8.0,38.97474716760005,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,1403180,1403180,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.042374658943037,-4.655695358099588,1.3866788416936893,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.6556953580995877,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,3.0|6:123530549:ctt:c|deletion,False,False +3:38562432:G:A,SCN5A,VCV000496571,496571,NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.856199444099349e-07,1.0,1458534.0,2.524614996213077e-05,1.0,eas,36.822315840800826,2.524614996213077e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,9.049391432957496,4.55340497393906,7.83055549406824,0.0,6.490721649484536,6.637931034482759,3.0,37.5620045849321,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,496571,496571,Brugada syndrome (shorter-than-normal QT interval)||Brugada syndrome 1|Cardiovascular phenotype,Brugada syndrome (shorter-than-normal QT interval)||Brugada syndrome 1|Cardiovascular phenotype,Brugada syndrome (shorter-than-normal QT interval)||Brugada syndrome 1|Cardiovascular phenotype,variation_id,-6.163916557448343,-4.597804842404293,1.566111098813648,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.5978048424042931,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|3:38562432:g:a|snv,True,False +11:2445417:C:T,KCNQ1,VCV002440963,2440963,NM_000218.3(KCNQ1):c.319C>T (p.Gln107Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3834281903929214e-06,2.0,1445684.0,2.3213705371651425e-05,2.0,sas,16.779829811931517,2.3213705371651425e-05,popmax,2.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,8.229250952613919,7.216976134290603,6.123937758591581,0.0,6.490721649484536,6.4035087719298245,3.0,37.46439526691046,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,2440963,2440963,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.859043378861654,-4.634255531925697,1.2247875517183162,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.6342555319256964,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,0.0|11:2445417:c:t|snv,True,False +1:237784169:A:C,RYR2,VCV003255050,3255050,NM_001035.3(RYR2):c.12457A>C (p.Ser4153Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.3682773114992762e-06,2.0,1461692.0,1.6563421340312053e-05,1.0,remaining,12.105302116616071,1.6563421340312053e-05,popmax,1.0,True,False,True,False,True,0.8035714285714286,0.811340206185567,4.930876705577447,4.55340497393906,5.414878163825536,0.0,6.490721649484536,8.035714285714286,8.0,37.42559577854087,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,3255050,3255050,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.8638258743639335,-4.780849950416652,1.0829756327651072,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,True,0.0001,-0.7808499504166522,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|1:237784169:a:c|snv,True,False +11:2572980:G:A,KCNQ1,VCV002440959,2440959,NM_000218.3(KCNQ1):c.915G>A (p.Trp305Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.845723408129707e-07,1.0,1460766.0,2.5192724341210258e-05,1.0,eas,36.80062286867968,2.5192724341210258e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,9.028690917341178,4.55340497393906,7.829275846919392,0.0,6.490721649484536,6.4035087719298245,3.0,37.30560215961399,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,2440959,2440959,,,,unmatched,-6.164580651904198,-4.598724865357054,1.5658551693838785,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5987248653570547,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,0.0|11:2572980:g:a|snv,True,False +11:2445200:C:A,KCNQ1,VCV002899907,2899907,NM_000218.3(KCNQ1):c.102C>A (p.Cys34Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.003045087718947e-06,3.0,998986.0,3.278043663541598e-05,1.0,sas,10.915729122331037,3.278043663541598e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,11.601331814792106,4.55340497393906,5.190263749803998,0.0,6.490721649484536,6.4035087719298245,3.0,37.23923095994952,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,2899907,2899907,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,variation_id,-5.522438147254718,-4.484385265924494,1.0380527499608,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.4843852659244936,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,0.0|11:2445200:c:a|snv,True,False +6:123530547:GTCTTA:G,TRDN,VCV000449691,449691,NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,8.154670542249349e-06,9.0,1103662.0,3.4233679093492176e-05,2.0,sas,4.198045245124528,3.4233679093492176e-05,popmax,2.0,True,False,True,False,False,0.390625,0.6043553875236295,12.02520572910473,7.216976134290603,3.1152355747598097,3.0,4.834843100189036,3.90625,3.0,37.098510538344186,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,449691,449691,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5|Cardiovascular phenotype,variation_id,-5.088593580248895,-4.465546424725965,0.623047114951962,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.4655464247259655,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,3.0|6:123530547:gtctta:g|deletion,False,False +4:113367670:T:G,ANK2,VCV004278327,4278327,NM_001148.6(ANK2):c.11137T>G (p.Ser3713Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840721997162468e-07,1.0,1461834.0,1.6559032952475575e-05,1.0,remaining,24.206523452964174,1.6559032952475575e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,4.928287423921334,4.55340497393906,6.919662102183732,0.0,6.490721649484536,6.136363636363637,8.0,37.0284397858923,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,4278327,4278327,"Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related",variation_id,-6.164898058683996,-4.780965029608317,1.3839324204367465,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.7809650296083169,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|4:113367670:t:g|snv,False,False +4:113354772:C:T,ANK2,VCV003359793,3359793,NM_001148.6(ANK2):c.6154C>T (p.Arg2052Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3683166284678274e-06,2.0,1461650.0,1.872308556450103e-05,1.0,fin,13.683289738411244,1.872308556450103e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,6.128492517596933,4.55340497393906,5.680952615385102,0.0,6.490721649484536,6.136363636363637,8.0,36.98993539276927,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3359793,3359793,,,,unmatched,-5.863813395243639,-4.727622577969138,1.1361905230770204,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.7276225779691373,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|4:113354772:c:t|snv,False,False +6:123516159:CT:C,TRDN,VCV001075032,1075032,NM_006073.4(TRDN):c.531del (p.Glu178fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.240414387045028e-06,3.0,1339038.0,3.33000333000333e-05,1.0,afr,14.863330475494562,3.33000333000333e-05,popmax,1.0,True,False,True,False,False,0.390625,0.6043553875236295,11.755005318964844,4.55340497393906,5.860580670631089,3.0,4.834843100189036,3.90625,3.0,36.91008406372403,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,1075032,1075032,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-5.649671647128898,-4.477555332198981,1.1721161341262178,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.4775553321989812,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,3.0|6:123516159:ct:c|deletion,False,False +7:150959590:T:TG,KCNH2,VCV000503669,503669,NM_000238.4(KCNH2):c.453dup (p.Thr152fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.3683035225605884e-06,2.0,1461664.0,1.8775111711914684e-05,1.0,fin,13.721443145404296,1.8775111711914684e-05,popmax,1.0,True,False,True,False,False,0.8263888888888888,0.382680412371134,6.1556074395176905,4.55340497393906,5.68699895230755,6.0,3.0614432989690723,8.26388888888889,3.0,36.72134355362226,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.83; detectability=0.38,503669,503669,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,variation_id,-5.863817554990246,-4.726417470263939,1.13739979046151,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.7264174702639392,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,6.0|7:150959590:t:tg|duplication,True,False +3:38620919:G:A,SCN5A,VCV000667015,667015,NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842435140557302e-07,1.0,1461468.0,2.2374367924106146e-05,1.0,amr,32.69937641368331,2.2374367924106146e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,7.869392881930953,4.55340497393906,7.572697353105923,0.0,6.490721649484536,6.637931034482759,3.0,36.12414789294324,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,667015,667015,Brugada syndrome|Brugada syndrome (shorter-than-normal QT interval)||Cardiac arrhythmia,Brugada syndrome|Brugada syndrome (shorter-than-normal QT interval)||Cardiac arrhythmia,Brugada syndrome|Brugada syndrome (shorter-than-normal QT interval)||Cardiac arrhythmia,variation_id,-6.164789310575721,-4.650249224657871,1.5145394706211843,anchored_exact,1.0,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.6502492246578704,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|3:38620919:g:a|snv,True,False +17:70175675:G:A,KCNJ2,VCV001480008,1480008,NM_000891.3(KCNJ2):c.636G>A (p.Trp212Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840450594161539e-07,1.0,1461892.0,1.6557387906483872e-05,1.0,remaining,24.20507899806617,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,4.927316620159899,4.55340497393906,6.919532521926111,0.0,6.490721649484536,5.0,8.0,35.89097576550961,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,1480008,1480008,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,-6.164915289491503,-4.7810081764447645,1.383906504385222,anchored_exact,1.0,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,True,0.0001,-0.7810081764447644,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|17:70175675:g:a|snv,False,False +11:2585248:C:T,KCNQ1,VCV000842027,842027,NM_000218.3(KCNQ1):c.1069C>T (p.Gln357Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3682454851319603e-06,2.0,1461726.0,2.5188916876574308e-05,1.0,eas,18.40963463110593,2.5188916876574308e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,9.027213985763447,4.55340497393906,6.325225846575167,0.0,6.490721649484536,6.4035087719298245,3.0,35.800075227692034,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,842027,842027,Long QT syndrome|KCNQ1-related disorder,Long QT syndrome|KCNQ1-related disorder,Long QT syndrome|KCNQ1-related disorder,variation_id,-5.8638359762463095,-4.598790506763115,1.265045169315033,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.5987905067631151,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,0.0|11:2585248:c:t|snv,True,False +4:113333091:C:T,ANK2,VCV002576605,2576605,NM_001148.6(ANK2):c.3262C>T (p.Arg1088Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368095733867073e-06,2.0,1461886.0,1.6557387906483872e-05,1.0,remaining,12.102498673235353,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.6136363636363636,0.811340206185567,4.927316620159899,4.55340497393906,5.414375218511921,0.0,6.490721649484536,6.136363636363637,8.0,35.522182098459055,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2576605,2576605,"ANK2-associated Neurodevelopmental Disorder|Cardiac arrhythmia, ankyrin-B-related","ANK2-associated Neurodevelopmental Disorder|Cardiac arrhythmia, ankyrin-B-related","ANK2-associated Neurodevelopmental Disorder|Cardiac arrhythmia, ankyrin-B-related",variation_id,-5.863883511361896,-4.7810081764447645,1.0828750437023842,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,scaffolding,True,True,False,0.5,True,0.0001,-0.7810081764447644,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|4:113333091:c:t|snv,False,False +7:150977912:A:G,KCNH2,VCV004813695,4813695,NM_000238.4(KCNH2):c.2T>C (p.Met1Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.93410107700458e-07,1.0,1442148.0,1.171042461999672e-05,1.0,sas,16.888142531826052,1.171042461999672e-05,popmax,1.0,True,False,True,False,True,0.8263888888888888,0.811340206185567,1.542885299143372,4.55340497393906,6.137909428275693,0.0,6.490721649484536,8.26388888888889,8.0,34.98881023973155,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,4813695,4813695,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,-6.159009832009677,-4.931427357124214,1.2275818856551386,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.9314273571242137,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,0.0|7:150977912:a:g|snv,True,False +11:2583515:CTT:C,KCNQ1,VCV003000119,3000119,NM_000218.3(KCNQ1):c.1004_1005del (p.Phe335fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.105124015796517e-06,6.0,1461588.0,1.6558484567492383e-05,1.0,remaining,4.033612984689953,1.6558484567492383e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.6043553875236295,4.927963811950888,4.55340497393906,3.028471131906448,3.0,4.834843100189036,6.4035087719298245,8.0,34.74819178991525,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,3000119,3000119,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.38667371831006,-4.780979412363427,0.6056942263812896,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.1789194210354652,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary,11:2583515:ctt:c|3.0|deletion,True,False +1:115738290:G:A,CASQ2,VCV000942279,942279,NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052578860079804e-06,3.0,1461576.0,1.655958137378287e-05,1.0,remaining,8.067692125332965,1.655958137378287e-05,popmax,1.0,True,False,True,False,True,0.5125,0.811340206185567,4.928611046609361,4.55340497393906,4.533746582792739,0.0,6.490721649484536,5.125,8.0,33.6314842528257,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,942279,942279,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.687700148293988,-4.780950646376869,0.9067493165585478,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.7809506463768694,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115738290:g:a|snv,False,False +6:123516162:T:A,TRDN,VCV000583099,583099,NM_006073.4(TRDN):c.529A>T (p.Lys177Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.239026530971708e-06,3.0,1339868.0,1.8289560318969934e-05,1.0,remaining,8.168529000191663,1.8289560318969934e-05,popmax,1.0,True,False,True,False,True,0.390625,0.811340206185567,5.899574000431089,4.55340497393906,4.560719276163659,0.0,6.490721649484536,3.90625,8.0,33.41066990001834,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,583099,583099,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.6499407602904,-4.737796734837436,0.9121438552327318,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.737796734837436,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|6:123516162:t:a|snv,False,False +3:38603999:G:A,SCN5A,VCV000517279,517279,NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.7902486960258726e-06,7.0,1461302.0,2.519018590357197e-05,1.0,eas,5.258637545443709,2.519018590357197e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,9.027706271486364,4.55340497393906,3.604366189265548,0.0,6.490721649484536,6.637931034482759,3.0,33.31413011865827,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,517279,517279,Brugada syndrome|Cardiovascular phenotype|Primary familial dilated cardiomyopathy||Cardiac arrhythmia|SCN5A-related disorder,Brugada syndrome|Cardiovascular phenotype|Primary familial dilated cardiomyopathy||Cardiac arrhythmia|SCN5A-related disorder,Brugada syndrome|Cardiovascular phenotype|Primary familial dilated cardiomyopathy||Cardiac arrhythmia|SCN5A-related disorder,variation_id,-5.319641938671461,-4.598768627396784,0.7208732378531095,anchored_exact,1.0,Brugada|arrhythmia|cardiomyopathy_overlap,assertion_condition_label,3,1.584962500721156,Brugada,structural_electrical,0.7,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,0.0032913639311787,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,0.0|3:38603999:g:a|snv,True,False +6:123570930:G:GT,TRDN,VCV004077704,4077704,NM_006073.4(TRDN):c.224dup (p.Asn75fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.843811893723814e-07,1.0,1461174.0,1.160227404571296e-05,1.0,sas,16.952917866481776,1.160227404571296e-05,popmax,1.0,True,False,True,False,True,0.390625,0.382680412371134,1.4522210262051705,4.55340497393906,6.146222289760973,6.0,3.0614432989690723,3.90625,8.0,33.11954158887428,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,4077704,4077704,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-6.164701935811307,-4.93545688071161,1.2292444579521946,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.93545688071161,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,6.0|6:123570930:g:gt|duplication,False,False +11:2572062:G:T,KCNQ1,VCV000405265,405265,NM_000218.3(KCNQ1):c.733G>T (p.Gly245Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.846370191451896e-07,1.0,1460628.0,1.1593396401409756e-05,1.0,sas,16.933616125912472,1.1593396401409756e-05,popmax,1.0,True,False,True,False,True,0.6403508771929824,0.811340206185567,1.4447412669586976,4.55340497393906,6.143748551865907,0.0,6.490721649484536,6.4035087719298245,8.0,33.03612521417803,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,405265,405265,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164539621739457,-4.935789314484561,1.2287497103731817,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.935789314484561,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,0.0|11:2572062:g:t|snv,True,False +3:38633181:G:A,SCN5A,VCV000924596,924596,NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843886834962407e-07,1.0,1461158.0,1.657000828500414e-05,1.0,remaining,24.21136625022659,1.657000828500414e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,4.93476191496682,4.55340497393906,6.920096487107972,0.0,6.490721649484536,6.637931034482759,3.0,32.53691605998115,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,924596,924596,Cardiac arrhythmia|Brugada syndrome 1;Long QT syndrome 3||Brugada syndrome 1,Cardiac arrhythmia|Brugada syndrome 1;Long QT syndrome 3||Brugada syndrome 1,Cardiac arrhythmia|Brugada syndrome 1;Long QT syndrome 3||Brugada syndrome 1,variation_id,-6.164697180217685,-4.780677274433368,1.3840192974215944,anchored_exact,1.0,Brugada|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,True,0.0001,-0.7806772744333681,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|3:38633181:g:a|snv,True,False +1:115732931:G:T,CASQ2,VCV001367739,1367739,NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.05254796462502e-06,3.0,1461598.0,2.236035955458164e-05,1.0,amr,10.893947447761208,2.236035955458164e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,7.863273048337192,4.55340497393906,5.185926379560558,0.0,6.490721649484536,5.125,3.0,32.21832605132135,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,1367739,1367739,Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype,variation_id,-5.687706685351722,-4.650521217274198,1.0371852759121116,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.6505212172741976,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,0.0|1:115732931:g:t|snv,False,False +17:70175721:C:T,KCNJ2,VCV000403974,403974,NM_000891.3(KCNJ2):c.682C>T (p.Arg228Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.104292816666712e-06,6.0,1461884.0,1.6557387906483872e-05,1.0,remaining,4.034162671114734,1.6557387906483872e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,4.927316620159899,4.55340497393906,3.028767032278017,0.0,6.490721649484536,5.0,8.0,32.00021027586151,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,403974,403974,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,-5.386761662485399,-4.7810081764447645,0.6057534064556034,anchored_exact,1.0,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-0.1789481851168019,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,0.0|17:70175721:c:t|snv,False,False +1:237640956:A:G,RYR2,VCV001805845,1805845,NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0529075329389014e-06,3.0,1461342.0,1.656781205474005e-05,1.0,remaining,8.070409757137067,1.656781205474005e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,4.933466673522359,4.55340497393906,4.534477928099714,0.0,6.490721649484536,8.035714285714286,3.0,31.54778551075995,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,1805845,1805845,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.687630611680931,-4.780734840723263,0.9068955856199428,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-0.1786748493953005,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,0.0|1:237640956:a:g|snv,True,False +6:123530506:CT:C,TRDN,VCV002732852,2732852,NM_006073.4(TRDN):c.483del (p.Val162fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.6582867511487022e-06,4.0,1093408.0,2.22727070248118e-05,1.0,remaining,6.088287619752758,2.22727070248118e-05,popmax,1.0,True,False,True,False,False,0.390625,0.6043553875236295,7.824893037576183,4.55340497393906,3.922475804818624,3.0,4.834843100189036,3.90625,3.0,31.041866916522903,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=deletion; gene_constraint=0.39; detectability=0.60,2732852,2732852,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-5.436722255786699,-4.652226995606679,0.7844951609637247,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.6522269956066784,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,3.0|6:123530506:ct:c|deletion,False,False +21:34449418:G:A,KCNE1,VCV000418270,418270,NM_000219.6(KCNE1):c.217C>T (p.His73Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.879216099567022e-07,1.0,1453654.0,1.1603620329542817e-05,1.0,sas,16.86762604048317,1.1603620329542817e-05,popmax,1.0,True,False,True,False,True,0.4166666666666667,0.811340206185567,1.4533548226908253,4.55340497393906,6.135269820157655,0.0,6.490721649484536,4.166666666666667,8.0,30.79941793293874,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,418270,418270,Long QT syndrome 5,Long QT syndrome 5,Long QT syndrome 5,variation_id,-6.162461047669836,-4.935406489752349,1.227053964031531,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,True,0.0001,-0.935406489752349,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,0.0|21:34449418:g:a|snv,True,False +1:237707240:A:T,RYR2,VCV000649240,649240,NM_001035.3(RYR2):c.9872A>T (p.Asp3291Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,7.100769865468815e-07,1.0,1408298.0,1.27890321260487e-05,1.0,sas,18.0107444088528,1.27890321260487e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,2.403848526170763,4.55340497393906,6.277658315895527,0.0,6.490721649484536,8.035714285714286,3.0,30.76134775120417,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,649240,649240,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.148694562520469,-4.8931623216840965,1.2555316631791054,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,True,0.0001,-0.8931623216840966,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|1:237707240:a:t|snv,True,False +11:2572019:C:CCG,KCNQ1,VCV000817280,817280,NM_000218.3(KCNQ1):c.692_693dup (p.Phe232fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.848423835254316e-07,1.0,1460190.0,1.1602543277486424e-05,1.0,sas,16.94189439015813,1.1602543277486424e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.382680412371134,1.4524477749782392,4.55340497393906,6.144809850868763,6.0,3.0614432989690723,6.4035087719298245,3.0,30.61561467068496,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=duplication; gene_constraint=0.64; detectability=0.38,817280,817280,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164409369882272,-4.935446802987494,1.2289619701737526,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.9354468029874938,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,11:2572019:c:ccg|6.0|duplication,True,False +1:115725554:C:A,CASQ2,VCV003575248,3575248,NM_001232.4(CASQ2):c.738-1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.955567832684809e-06,7.0,1006388.0,2.285818780287099e-05,1.0,remaining,3.2863148008051355,2.285818780287099e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,8.07844085003294,4.55340497393906,2.583545813913104,0.0,6.490721649484536,5.125,3.0,29.83111328736964,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,3575248,3575248,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.157667409663991,-4.640958203442495,0.5167091627826208,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.640958203442495,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115725554:c:a|snv,False,False +3:38566408:C:T,SCN5A,VCV000488729,488729,NM_000335.5(SCN5A):c.3837+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,4.791376617260729e-06,7.0,1460958.0,1.8777932174108987e-05,1.0,fin,3.919109424075093,1.8777932174108987e-05,popmax,1.0,True,False,True,False,False,0.6637931034482759,0.811340206185567,6.157075256610451,4.55340497393906,2.9659369471539314,0.0,6.490721649484536,6.637931034482759,3.0,29.80506986167073,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.66; detectability=0.81,488729,488729,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-5.319539690888947,-4.726352233945231,0.5931873894307864,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-0.1242922426172685,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,0.0|3:38566408:c:t|snv,True,False +21:34449584:C:T,KCNE1,VCV000547164,547164,NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.0952014842170511e-06,1.0,913074.0,1.5943369152769364e-05,1.0,sas,14.55746346682834,1.5943369152769364e-05,popmax,1.0,True,False,True,False,False,0.4166666666666667,0.811340206185567,4.558052904933406,4.55340497393906,5.815428544415592,0.0,6.490721649484536,4.166666666666667,3.0,28.584274739439262,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.42; detectability=0.81,547164,547164,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome|Sensorineural hearing loss disorder|Long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome|Sensorineural hearing loss disorder|Long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome|Sensorineural hearing loss disorder|Long QT syndrome 5,variation_id,-5.960505976317786,-4.7974198981316665,1.1630857088831186,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,True,0.0001,-0.7974198981316662,True,False,False,False,False,False,True,True,True,ancestry_concentrated,canonical_monogenic|ancestry_concentrated|penetrance_boundary,0.0|21:34449584:c:t|snv,True,False +11:2588855:G:A,KCNQ1,VCV002773478,2773478,NM_000218.3(KCNQ1):c.1393+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.8510794560791e-07,1.0,1459624.0,1.160631383472609e-05,1.0,sas,16.940830957078788,1.160631383472609e-05,popmax,1.0,True,False,True,False,False,0.6403508771929824,0.811340206185567,1.4556228103999276,4.55340497393906,6.144673544502126,0.0,6.490721649484536,6.4035087719298245,3.0,28.04793175025548,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.64; detectability=0.81,2773478,2773478,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,-6.1642409956777255,-4.935305690289925,1.2289347089004252,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,True,0.0001,-0.9353056902899252,True,False,True,False,True,False,True,True,False,disease_model_collision,ancestry_concentrated|penetrance_boundary|disease_model_collision,0.0|11:2588855:g:a|snv,True,False +17:70175818:G:A,KCNJ2,VCV001477795,1477795,NM_000891.3(KCNJ2):c.779G>A (p.Arg260His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,4.104309661955375e-06,6.0,1461878.0,1.15931275939623e-05,1.0,sas,2.8246225855718,1.15931275939623e-05,popmax,1.0,True,False,True,False,True,0.5,0.811340206185567,1.4445146969411835,4.55340497393906,2.254802136965795,0.0,6.490721649484536,5.0,8.0,27.74344345733057,blue_low_support_signal,False,,popmax_AF_gt_1e-5; weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,1477795,1477795,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,-5.386759880010018,-4.935799384263986,0.4509604273931589,anchored_exact,1.0,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-0.3337393929360234,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,0.0|17:70175818:g:a|snv,False,False +6:123636753:C:A,TRDN,VCV000915308,915308,NM_006073.4(TRDN):c.22+1G>T,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.055515358810761e-06,3.0,1459488.0,1.6596408537192552e-05,1.0,remaining,8.074082926196981,1.6596408537192552e-05,popmax,1.0,True,False,True,False,False,0.390625,0.811340206185567,4.950318218612913,4.55340497393906,4.535466027950625,0.0,6.490721649484536,3.90625,3.0,27.43616086998713,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.39; detectability=0.81,915308,915308,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.687079273823139,-4.779985883118516,0.9070932055901252,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.779985883118516,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|6:123636753:c:a|snv,False,False +15:73329709:G:A,HCN4,VCV001675066,1675066,NM_005477.3(HCN4):c.1454C>T (p.Ala485Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,3.420346959995622e-06,5.0,1461840.0,1.6557936218829686e-05,1.0,remaining,4.841009573438511,1.6557936218829686e-05,popmax,1.0,True,False,True,False,False,0.5,0.811340206185567,4.927640210697314,4.55340497393906,3.424679707448827,0.0,6.490721649484536,5.0,3.0,27.396446541569738,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.50; detectability=0.81,1675066,1675066,Left ventricular noncompaction cardiomyopathy|Brugada syndrome 8|Cardiovascular phenotype,Left ventricular noncompaction cardiomyopathy|Brugada syndrome 8|Cardiovascular phenotype,Left ventricular noncompaction cardiomyopathy|Brugada syndrome 8|Cardiovascular phenotype,variation_id,-5.465929836877009,-4.7809937946422325,0.6849359414897653,anchored_exact,1.0,Brugada|cardiomyopathy_overlap,assertion_condition_label,2,1.0,Brugada,structural_electrical,0.7,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,-0.1789338033142704,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,0.0|15:73329709:g:a|snv,False,False +1:237330939:C:T,RYR2,VCV000404190,404190,NM_001035.3(RYR2):c.230C>T (p.Ala77Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0524243921061023e-06,3.0,1461686.0,1.15931275939623e-05,1.0,sas,5.648501835219441,1.15931275939623e-05,popmax,1.0,True,False,True,False,False,0.8035714285714286,0.811340206185567,1.4445146969411835,4.55340497393906,3.759666370977259,0.0,6.490721649484536,8.035714285714286,3.0,27.284021977056327,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.80; detectability=0.81,404190,404190,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.687732832598735,-4.935799384263986,0.7519332741954518,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-0.3337393929360234,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,0.0|1:237330939:c:t|snv,True,False +1:115738223:C:T,CASQ2,VCV001746831,1746831,NM_001232.4(CASQ2):c.532+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.006952298070145e-07,1.0,1427154.0,1.168688497767805e-05,1.0,sas,16.678962267139422,1.168688497767805e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,1.5232231551520896,4.55340497393906,6.110845130886591,0.0,6.490721649484536,5.125,3.0,26.80319490946228,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,1746831,1746831,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-6.154470839086335,-4.932301230265192,1.2221690261773182,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,True,0.001,-1.932301230265192,False,False,True,False,True,False,True,False,False,disease_model_collision,ancestry_concentrated|disease_model_collision,0.0|1:115738223:c:t|snv,False,False +1:115744914:T:C,CASQ2,VCV000408869,408869,NM_001232.4(CASQ2):c.235-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.372949328559131e-06,2.0,1456718.0,1.162385214460072e-05,1.0,sas,8.466331886019208,1.162385214460072e-05,popmax,1.0,True,False,True,False,False,0.5125,0.811340206185567,1.4703775753869388,4.55340497393906,4.63847644556688,0.0,6.490721649484536,5.125,3.0,25.27798064437741,blue_low_support_signal,False,,popmax_AF_gt_1e-5; type=SNV; gene_constraint=0.51; detectability=0.81,408869,408869,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-5.862345490973913,-4.934649922900711,0.927695289113376,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-1.9346499229007108,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115744914:t:c|snv,False,False +21:34449622:T:TA,KCNE1,VCV000430060,430060,NM_000219.6(KCNE1):c.12dup (p.Asn5Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,2.628017292353784e-06,2.0,761030.0,3.923091710114907e-06,2.0,nfe,1.4927950545584636,3.923091710114907e-06,popmax,0.0,False,False,False,False,False,0.4166666666666667,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.42; detectability=0.38,430060,430060,Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 5;Jervell and Lange-Nielsen syndrome 2|Jervell and Lange-Nielsen syndrome 2,Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 5;Jervell and Lange-Nielsen syndrome 2|Jervell and Lange-Nielsen syndrome 2,Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 5;Jervell and Lange-Nielsen syndrome 2|Jervell and Lange-Nielsen syndrome 2,variation_id,-5.580371781445164,-5.406371539249691,0.1740001876420231,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,-0.8043115479217289,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary,21:34449622:t:ta|6.0|duplication,True,False +4:113358978:A:AG,ANK2,VCV001208780,1208780,NM_001148.6(ANK2):c.10367dup (p.Thr3457fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,3.420660515862971e-06,,,3.420660515862971e-06,,,2.923411145366478e-07,3.420660515862971e-06,global,0.0,False,False,False,False,True,0.6136363636363636,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.61; detectability=0.38,1208780,1208780,,,,unmatched,-5.465890025318979,-5.465890025318979,-6.534110101643173,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-0.8638300339910164,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,4:113358978:a:ag|6.0|duplication,False,False +7:150947376:C:CG,KCNH2,VCV000857501,857501,NM_000238.4(KCNH2):c.3103dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.4431722079668878e-06,2.0,1385836.0,1.8602055527135749e-06,2.0,nfe,1.2889697109428708,1.8602055527135749e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,857501,857501,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.840681843191019,-5.730439063590216,0.1102427121362369,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1283790722622535,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,6.0|7:150947376:c:cg|duplication,True,False +11:2588804:C:CA,KCNQ1,VCV001068919,1068919,NM_000218.3(KCNQ1):c.1344dup (p.Glu449fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,1.3687567582364937e-06,2.0,1461180.0,1.7986646713479913e-06,2.0,nfe,1.3140861927718974,1.7986646713479913e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.64; detectability=0.38,1068919,1068919,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.863673723481508,-5.745049795496874,0.1186238521473121,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1429898041689115,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,11:2588804:c:ca|6.0|duplication,True,False +7:150948455:C:CGCCT,KCNH2,VCV000519280,519280,NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,8.697558073595258e-07,1.0,1149748.0,1.1272305073664514e-06,1.0,nfe,1.2960306810228792,1.1272305073664514e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.83; detectability=0.38,519280,519280,Cardiovascular phenotype|Long QT syndrome 2|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome 2|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome 2|Long QT syndrome,variation_id,-6.060602662786437,-5.947987265993787,0.1126152827392174,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.3459272746658248,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,6.0|7:150948455:c:cgcct|duplication,True,False +7:82443436:G:GGCCAGCAGGCA,CACNA2D1,VCV001802180,1802180,NM_000722.4(CACNA2D1):c.13_23dup (p.Leu9fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,duplication,LOF,6.870028675499691e-07,1.0,1455598.0,9.019003039404024e-07,1.0,nfe,1.3128038232984225,9.019003039404024e-07,popmax,0.0,False,False,False,False,True,0.75,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.75; detectability=0.38,1802180,1802180,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,variation_id,-6.163041450191499,-6.044841466716941,0.1181998328492641,anchored_exact,1.0,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.442781475388979,False,False,False,False,False,False,False,False,False,unknown_or_insufficient,unknown_or_insufficient,6.0|7:82443436:g:ggccagcaggca|duplication,False,False +3:38581146:T:TGCAGCTGG,SCN5A,VCV002104041,2104041,NM_000335.5(SCN5A):c.3005_3012dup (p.Ile1005fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,6.846370191451896e-07,1.0,1460628.0,8.996883479562679e-07,1.0,nfe,1.314109533501488,8.996883479562679e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.66; detectability=0.38,2104041,2104041,,,,unmatched,-6.164539621739457,-6.0459079041190815,0.1186315659944688,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4438479127911197,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,3:38581146:t:tgcagctgg|6.0|duplication,True,False +11:2445314:G:GC,KCNQ1,VCV001787905,1787905,NM_000218.3(KCNQ1):c.221dup (p.Val75fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1325352.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.64; detectability=0.38,1787905,1787905,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,11:2445314:g:gc|6.0|duplication,True,False +11:2847842:A:AC,KCNQ1,VCV001306529,1306529,NM_000218.3(KCNQ1):c.1875dup (p.Gly626fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1417300.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,type=duplication; gene_constraint=0.64; detectability=0.38,1306529,1306529,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,11:2847842:a:ac|6.0|duplication,True,False +7:150958081:C:CG,KCNH2,VCV003645049,3645049,NM_000238.4(KCNH2):c.893dup (p.Pro299fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1121302.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,3645049,3645049,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,6.0|7:150958081:c:cg|duplication,True,False +7:150947472:T:TC,KCNH2,VCV000864600,864600,NM_000238.4(KCNH2):c.3007dup (p.Asp1003fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1424464.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.83; detectability=0.38,864600,864600,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,6.0|7:150947472:t:tc|duplication,True,False +6:123512339:T:TC,TRDN,VCV000532312,532312,NM_006073.4(TRDN):c.573dup (p.Lys192fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,duplication,LOF,0.0,0.0,1354634.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.382680412371134,0.0,0.0,0.0,6.0,0.0,0.0,0.0,6.0,green_frequency_consistent,False,,weak_review; type=duplication; gene_constraint=0.39; detectability=0.38,532312,532312,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,6.0|6:123512339:t:tc|duplication,False,False +7:150947795:GC:G,KCNH2,VCV001074305,1074305,NM_000238.4(KCNH2):c.2775del (p.Pro926fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,7.97089897247866e-06,,,7.97089897247866e-06,,,1.2545634789706644e-07,7.97089897247866e-06,global,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,1074305,1074305,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,variation_id,-5.098492695320329,-5.098492695320329,-6.9015073591646745,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.496432703992366,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,3.0|7:150947795:gc:g|deletion,True,False +6:123503830:CCT:C,TRDN,VCV003592999,3592999,NM_006073.4(TRDN):c.680_681del (p.Gln227fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,4.12401745284186e-06,6.0,1454892.0,5.414810589925564e-06,6.0,nfe,1.3129940255709134,5.414810589925564e-06,popmax,0.0,False,False,False,False,True,0.390625,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,3592999,3592999,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-5.384679505450385,-5.266416730393942,0.1182627499527786,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.266416730393942,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,3.0|6:123503830:cct:c|deletion,False,False +3:38613790:C:CTGAAT,SCN5A,VCV002861576,2861576,NM_000335.5(SCN5A):c.655_656insATTCA (p.Arg219fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,4.113674539782661e-06,6.0,1458550.0,5.403010557482629e-06,6.0,nfe,1.3134267652446132,5.403010557482629e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.66; detectability=0.59,2861576,2861576,,,,unmatched,-5.385770071213905,-5.267364183848557,0.1184058621720744,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-0.6653041925205951,True,False,True,False,True,True,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision|sads_sensitive,3.0|3:38613790:c:ctgaat|insertion,True,False +7:150947387:AC:A,KCNH2,VCV000917819,917819,NM_000238.4(KCNH2):c.3092del (p.Gly1031fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,3.604154292403596e-06,5.0,1387288.0,4.655415458586356e-06,5.0,nfe,1.2916803192133486,4.655415458586356e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,917819,917819,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,Long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype,variation_id,-5.443196625321954,-5.332041555644992,0.1111550424666818,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.7299815643170293,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,3.0|7:150947387:ac:a|deletion,True,False +11:2570664:GTGGTCCGCCTC:G,KCNQ1,VCV000519537,519537,NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,2.0543273721318167e-06,3.0,1460332.0,2.6979242171073577e-06,3.0,nfe,1.3132882034373443,2.6979242171073577e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,519537,519537,Cardiovascular phenotype|Long QT syndrome||Long QT syndrome 1,Cardiovascular phenotype|Long QT syndrome||Long QT syndrome 1,Cardiovascular phenotype|Long QT syndrome||Long QT syndrome 1,variation_id,-5.687330347213235,-5.568970253535253,0.1183600432468597,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.9669102622072908,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary,11:2570664:gtggtccgcctc:g|3.0|deletion,True,False +7:150947472:TC:T,KCNH2,VCV000837649,837649,NM_000238.4(KCNH2):c.3007del (p.Asp1003fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.404040829507322e-06,2.0,1424460.0,1.8277793212358715e-06,2.0,nfe,1.3017990510134867,1.8277793212358715e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,837649,837649,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.852620262739047,-5.738076240415614,0.1145439506136409,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.136016249087652,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150947472:tc:t|deletion,True,False +7:150950047:GCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGC:G,KCNH2,VCV004537402,4537402,NM_000238.4(KCNH2):c.2398+86_2398+120del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,1.3735848641936646e-06,2.0,1456044.0,1.802292155162936e-06,2.0,nfe,1.3121081121644589,1.802292155162936e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,4537402,4537402,,,,unmatched,-5.862144503398529,-5.744174807646243,0.1179696205442554,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1421148163182806,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150950047:gcccagtgaccctgcaggcagtcccaggtccacagc:g|deletion,True,False +3:38587442:CA:C,SCN5A,VCV003385945,3385945,NM_000335.5(SCN5A):c.2393del (p.Leu798fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3683877792024215e-06,2.0,1461574.0,1.7988749835852655e-06,2.0,nfe,1.3145942227279572,1.7988749835852655e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,3385945,3385945,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,-5.863790813066815,-5.744999017769321,0.1187917193463861,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.1429390264413588,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,3.0|3:38587442:ca:c|deletion,True,False +1:115702951:CCTGAATAGGT:C,CASQ2,VCV002988469,2988469,NM_001232.4(CASQ2):c.974_983del (p.Asp325fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3685694343702527e-06,2.0,1461380.0,1.7988458604959058e-06,2.0,nfe,1.3143984520779486,1.7988458604959058e-06,popmax,0.0,False,False,False,False,False,0.5125,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.51; detectability=0.60,2988469,2988469,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.863733163764354,-5.745006048885716,0.1187270389735655,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.745006048885716,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,1:115702951:cctgaataggt:c|3.0|deletion,False,False +11:2572033:TC:T,KCNQ1,VCV000656121,656121,NM_000218.3(KCNQ1):c.706del (p.Ile235_Leu236insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.3692440403653143e-06,2.0,1460660.0,1.798784381514972e-06,2.0,nfe,1.3137059682429495,1.798784381514972e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,656121,656121,Long QT syndrome||Cardiovascular phenotype|Cardiac arrhythmia,Long QT syndrome||Cardiovascular phenotype|Cardiac arrhythmia,Long QT syndrome||Cardiovascular phenotype|Cardiac arrhythmia,variation_id,-5.863519140661796,-5.745020891979852,0.1184981729414689,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.14296090065189,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,11:2572033:tc:t|3.0|deletion,True,False +11:2445114:TC:T,KCNQ1,VCV000523933,523933,NM_000218.3(KCNQ1):c.20del (p.Pro7fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,1.0542451288603822e-06,1.0,948546.0,1.1995470510335298e-06,1.0,nfe,1.1378254263358936,1.1995470510335298e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,523933,523933,,,,unmatched,-5.977058396966116,-5.920982712595298,0.0560756344712959,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.3189227212673351,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,11:2445114:tc:t|3.0|deletion,True,False +7:150948442:AC:A,KCNH2,VCV003076027,3076027,NM_000238.4(KCNH2):c.2692+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,8.761063032344092e-07,1.0,1141414.0,1.1032048099729716e-06,1.0,nfe,1.2592131191010063,1.1032048099729716e-06,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3076027,3076027,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,-6.057443195079471,-5.957343853304137,0.1000992397318687,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.3552838619761751,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150948442:ac:a|deletion,True,False +11:2445294:TCCCCGGCCGCG:T,KCNQ1,VCV000449221,449221,NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,8.033277046838826e-07,1.0,1244822.0,9.895679744137304e-07,1.0,nfe,1.2318356964514732,9.895679744137304e-07,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,449221,449221,"Long QT syndrome|Cardiovascular phenotype|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1|KCNQ1-related disorder","Long QT syndrome|Cardiovascular phenotype|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1|KCNQ1-related disorder","Long QT syndrome|Cardiovascular phenotype|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1|KCNQ1-related disorder",variation_id,-6.095107255090803,-6.004554368310682,0.0905527850337244,anchored_exact,1.0,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.40249437698272,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,11:2445294:tccccggccgcg:t|3.0|deletion,True,False +3:38581308:CAG:C,SCN5A,VCV001332487,1332487,NM_000335.5(SCN5A):c.2849_2850del (p.Pro950fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.857957974433533e-07,1.0,1458160.0,9.016856110813556e-07,1.0,nfe,1.314801431623534,9.016856110813556e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,1332487,1332487,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-6.163805180569505,-6.044944860654155,0.1188601682920498,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4428848693261924,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,3.0|3:38581308:cag:c|deletion,True,False +7:150947652:CA:C,KCNH2,VCV000858435,858435,NM_000238.4(KCNH2):c.2918del (p.Leu973fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.85348348858758e-07,1.0,1459112.0,9.000819074535783e-07,1.0,nfe,1.3133198549796452,9.000819074535783e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,858435,858435,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,variation_id,-6.164088629189619,-6.045717967964516,0.1183705100465191,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4436579766365545,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150947652:ca:c|deletion,True,False +12:2584592:GAGA:G,CACNA1C,VCV000411734,411734,NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,missense,6.845132973553145e-07,1.0,1460892.0,8.998033029979646e-07,1.0,nfe,1.3145149874508737,8.998033029979646e-07,popmax,0.0,False,False,False,False,False,0.7307692307692307,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.73; detectability=0.60,411734,411734,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,-6.16461811084344,-6.045852416959342,0.1187655420818688,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.4437924256313794,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,12:2584592:gaga:g|3.0|deletion,True,False +3:38557229:AC:A,SCN5A,VCV001327132,1327132,NM_000335.5(SCN5A):c.4296+1del,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,6.843736954126432e-07,1.0,1461190.0,8.99647877820621e-07,1.0,nfe,1.314556022966598,8.99647877820621e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,1327132,1327132,SUDDEN INFANT DEATH SYNDROME|Cardiovascular phenotype|Brugada syndrome 1,SUDDEN INFANT DEATH SYNDROME|Cardiovascular phenotype|Brugada syndrome 1,SUDDEN INFANT DEATH SYNDROME|Cardiovascular phenotype|Brugada syndrome 1,variation_id,-6.164706691352855,-6.045927440163924,0.1187790993406663,anchored_exact,1.0,Brugada|SADS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4438674488359615,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,3.0|3:38557229:ac:a|deletion,True,False +3:38604874:CG:C,SCN5A,VCV003629463,3629463,NM_000335.5(SCN5A):c.1372del (p.Arg458fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.843924306197174e-07,1.0,1461150.0,8.99566948471006e-07,1.0,nfe,1.3144017873702387,8.99566948471006e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,3629463,3629463,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,-6.164694802401345,-6.045966509617412,0.1187281409964697,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4439065182894495,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,3.0|3:38604874:cg:c|deletion,True,False +6:123570976:CACGTGATTATCAGGGCA:C,TRDN,VCV001677487,1677487,NM_006073.4(TRDN):c.162_178del (p.Ile54fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84147080675992e-07,1.0,1461674.0,8.994148407046376e-07,1.0,nfe,1.314650827955176,8.994148407046376e-07,popmax,0.0,False,False,False,False,True,0.390625,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.39; detectability=0.60,1677487,1677487,,,,unmatched,-6.16485052187741,-6.046039950676286,0.1188104192677384,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.0460399506762856,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,3.0|6:123570976:cacgtgattatcagggca:c|deletion,False,False +11:2768851:GAACACCATCGGGCCACCATT:G,KCNQ1,VCV002009452,2009452,NM_000218.3(KCNQ1):c.1525_1544del (p.His509fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841161902937595e-07,1.0,1461740.0,8.99363071073066e-07,1.0,nfe,1.3146345155964867,8.99363071073066e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,2009452,2009452,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.16487013144062,-6.046064949054553,0.1188050304518131,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.44400495772659,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,11:2768851:gaacaccatcgggccaccatt:g|3.0|deletion,True,False +4:113359097:ACAGT:A,ANK2,VCV000570614,570614,NM_001148.6(ANK2):c.10483_10486del (p.Ser3495fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.841218065194071e-07,1.0,1461728.0,8.993468942853699e-07,1.0,nfe,1.3146000772302235,8.993468942853699e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.61; detectability=0.60,570614,570614,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164866566131348,-6.0460727607526765,0.1187936534583143,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4440127694247145,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,3.0|4:113359097:acagt:a|deletion,False,False +4:113358978:AG:A,ANK2,VCV001342783,1342783,NM_001148.6(ANK2):c.10367del (p.Gly3456fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.84114318239035e-07,1.0,1461744.0,8.993291004910337e-07,1.0,nfe,1.3145884568203765,8.993291004910337e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.61; detectability=0.60,1342783,1342783,,,,unmatched,-6.16487131987054,-6.046081353458328,0.1187898144944601,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4440213621303657,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,3.0|4:113358978:ag:a|deletion,False,False +7:150951697:AG:A,KCNH2,VCV000405341,405341,NM_000238.4(KCNH2):c.1695del (p.Cys566fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840890465030052e-07,1.0,1461798.0,8.992999848917603e-07,1.0,nfe,1.3145944594412535,8.992999848917603e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,405341,405341,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164887363356165,-6.046095413882688,0.1187917975479082,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440354225547252,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150951697:ag:a|deletion,True,False +7:150949032:CA:C,KCNH2,VCV000418689,418689,NM_000238.4(KCNH2):c.2415del (p.Phe805fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840675202005138e-07,1.0,1461844.0,8.992918975598614e-07,1.0,nfe,1.3146240047652844,8.992918975598614e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,418689,418689,,,,unmatched,-6.16490102956165,-6.046099319475336,0.1188015581451106,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440393281473738,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150949032:ca:c|deletion,True,False +7:150951021:TC:T,KCNH2,VCV000810745,810745,NM_000238.4(KCNH2):c.2044del (p.Glu682fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840656484121468e-07,1.0,1461848.0,8.992789581313703e-07,1.0,nfe,1.3146086864763482,8.992789581313703e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,810745,810745,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164902217907022,-6.046105568350519,0.1187964976205101,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.444045577022557,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150951021:tc:t|deletion,True,False +7:150948956:TGTAGGTCACA:T,KCNH2,VCV000503760,503760,NM_000238.4(KCNH2):c.2482_2491del (p.Cys828fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840478669335365e-07,1.0,1461886.0,8.992757233324281e-07,1.0,nfe,1.3146381301144725,8.992757233324281e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,503760,503760,,,,unmatched,-6.164913507025877,-6.046107130555266,0.1188062245198521,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440471392273042,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150948956:tgtaggtcaca:t|deletion,True,False +3:38551026:GCT:G,SCN5A,VCV002428920,2428920,NM_000335.5(SCN5A):c.5341_5342del (p.Ser1781fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,6.840441235821475e-07,1.0,1461894.0,8.992708711776492e-07,1.0,nfe,1.3146382309816362,8.992708711776492e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.66; detectability=0.60,2428920,2428920,,,,unmatched,-6.164915883645086,-6.046109473851851,0.118806257841608,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4440494825238883,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,3.0|3:38551026:gct:g|deletion,True,False +11:2445203:CT:C,KCNQ1,VCV003862980,3862980,NM_000218.3(KCNQ1):c.107del (p.Phe36fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,998778.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,3862980,3862980,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,11:2445203:ct:c|3.0|deletion,True,False +11:2445284:GC:G,KCNQ1,VCV003076068,3076068,NM_000218.3(KCNQ1):c.191del (p.Pro64fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1165068.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,3076068,3076068,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,11:2445284:gc:g|3.0|deletion,True,False +11:2572978:TG:T,KCNQ1,VCV001457672,1457672,NM_000218.3(KCNQ1):c.919del (p.Val307fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1460810.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.64; detectability=0.60,1457672,1457672,Long QT syndrome|Cardiovascular phenotype|Congenital long QT syndrome,Long QT syndrome|Cardiovascular phenotype|Congenital long QT syndrome,Long QT syndrome|Cardiovascular phenotype|Congenital long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,11:2572978:tg:t|3.0|deletion,True,False +11:2445270:GC:G,KCNQ1,VCV000635221,635221,NM_000218.3(KCNQ1):c.176del (p.Pro59fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1083286.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,635221,635221,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,11:2445270:gc:g|3.0|deletion,True,False +11:2445294:TC:T,KCNQ1,VCV000405258,405258,NM_000218.3(KCNQ1):c.200del (p.Pro67fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1244822.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.64; detectability=0.60,405258,405258,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,11:2445294:tc:t|3.0|deletion,True,False +7:150958217:GC:G,KCNH2,VCV004727450,4727450,NM_000238.4(KCNH2):c.757del (p.Ala253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1219196.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,4727450,4727450,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150958217:gc:g|deletion,True,False +7:150977840:TG:T,KCNH2,VCV004528252,4528252,NM_000238.4(KCNH2):c.73del (p.Gln25fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,982894.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,4528252,4528252,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150977840:tg:t|deletion,True,False +7:150958426:GC:G,KCNH2,VCV003720792,3720792,NM_000238.4(KCNH2):c.548del (p.Gly183fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1297264.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3720792,3720792,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150958426:gc:g|deletion,True,False +7:150958200:CG:C,KCNH2,VCV003644294,3644294,NM_000238.4(KCNH2):c.774del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1212186.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3644294,3644294,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150958200:cg:c|deletion,True,False +7:150948519:CG:C,KCNH2,VCV003376533,3376533,NM_000238.4(KCNH2):c.2616del (p.Gly873fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1461446.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,3376533,3376533,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150948519:cg:c|deletion,True,False +7:150947431:C:CGGGGGGGGGGGGG,KCNH2,VCV003076044,3076044,NM_000238.4(KCNH2):c.3048_3049insCCCCCCCCCCCCC (p.Ala1017fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,0.0,0.0,1294084.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.83; detectability=0.59,3076044,3076044,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150947431:c:cggggggggggggg|insertion,True,False +7:150947425:T:TGGGGGGG,KCNH2,VCV003076029,3076029,NM_000238.4(KCNH2):c.3054_3055insCCCCCCC (p.Thr1019fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,insertion,LOF,0.0,0.0,1287706.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.5866666666666666,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=insertion; gene_constraint=0.83; detectability=0.59,3076029,3076029,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150947425:t:tggggggg|insertion,True,False +7:150958228:TG:T,KCNH2,VCV002584422,2584422,NM_000238.4(KCNH2):c.746del (p.Pro249fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1225122.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,2584422,2584422,KCNH2-related disorder,KCNH2-related disorder,KCNH2-related disorder,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150958228:tg:t|deletion,True,False +7:150974709:AC:A,KCNH2,VCV001382290,1382290,NM_000238.4(KCNH2):c.307+1del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,splice_or_intronic,0.0,0.0,1438648.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,1382290,1382290,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150974709:ac:a|deletion,True,False +7:150958305:CT:C,KCNH2,VCV001070517,1070517,NM_000238.4(KCNH2):c.669del (p.Leu225fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1328332.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,1070517,1070517,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150958305:ct:c|deletion,True,False +7:150947808:GC:G,KCNH2,VCV000653333,653333,NM_000238.4(KCNH2):c.2762del (p.Gly921fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1378096.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,653333,653333,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150947808:gc:g|deletion,True,False +7:150977867:TC:T,KCNH2,VCV000638156,638156,NM_000238.4(KCNH2):c.46del (p.Asp16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1392070.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,638156,638156,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150977867:tc:t|deletion,True,False +7:150947425:TG:T,KCNH2,VCV000523705,523705,NM_000238.4(KCNH2):c.3054del (p.Thr1019fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1287714.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.83; detectability=0.60,523705,523705,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150947425:tg:t|deletion,True,False +7:150947678:CG:C,KCNH2,VCV000418247,418247,NM_000238.4(KCNH2):c.2892del (p.Gly965fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1451776.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.83; detectability=0.60,418247,418247,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,0.0,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,3.0|7:150947678:cg:c|deletion,True,False +3:38603785:GC:G,SCN5A,VCV001254662,1254662,NM_000335.5(SCN5A):c.1816del (p.Ala606fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1413208.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,type=deletion; gene_constraint=0.66; detectability=0.60,1254662,1254662,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,3.0|3:38603785:gc:g|deletion,True,False +12:2585484:AC:A,CACNA1C,VCV001334090,1334090,NM_000719.7(CACNA1C):c.2451del (p.Ala818fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,deletion,LOF,0.0,0.0,1402792.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.6043553875236295,0.0,0.0,0.0,3.0,0.0,0.0,0.0,3.0,green_frequency_consistent,False,,weak_review; type=deletion; gene_constraint=0.73; detectability=0.60,1334090,1334090,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,12:2585484:ac:a|3.0|deletion,True,False +1:115705187:C:G,CASQ2,VCV001455253,1455253,NM_001232.4(CASQ2):c.939+5G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,splice_or_intronic,3.47015940524244e-06,5.0,1440856.0,4.575293779613589e-06,5.0,nfe,1.3184678070505331,4.575293779613589e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,1455253,1455253,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-5.459650574999586,-5.33958101465353,0.1200695301165615,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.33958101465353,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115705187:c:g|snv,False,False +1:115726991:C:T,CASQ2,VCV002202832,2202832,NM_001232.4(CASQ2):c.737+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.4284758230741907e-06,5.0,1458374.0,4.505194489246101e-06,5.0,nfe,1.3140516100110182,4.505194489246101e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,2202832,2202832,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-5.464898908745636,-5.346286455787436,0.1186124226840596,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.3462864557874368,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115726991:c:t|snv,False,False +1:115744903:G:A,CASQ2,VCV002914975,2914975,NM_001232.4(CASQ2):c.244C>T (p.Gln82Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.423808617315433e-06,5.0,1460362.0,4.501244143881369e-06,5.0,nfe,1.3146890881773796,4.501244143881369e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2914975,2914975,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.465490519335655,-5.346667430637412,0.1188230583360297,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.346667430637412,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115744903:g:a|snv,False,False +1:115702947:G:A,CASQ2,VCV001425730,1425730,NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,3.4213767620090325e-06,5.0,1461400.0,4.497138920218957e-06,5.0,nfe,1.314423671701846,4.497138920218957e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1425730,1425730,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.46579909867318,-5.347063696520862,0.1187353717880193,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.3470636965208613,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115702947:g:a|snv,False,False +1:115725508:C:T,CASQ2,VCV000427947,427947,NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.738473082178839e-06,4.0,1460668.0,3.598442594045297e-06,4.0,nfe,1.3140323720654798,3.598442594045297e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,427947,427947,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.5624915236118255,-5.443885421221095,0.1186060644902975,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.443885421221095,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115725508:c:t|snv,False,False +1:115738281:C:A,CASQ2,VCV000654552,654552,NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.7365508786380734e-06,4.0,1461694.0,3.597652891253746e-06,4.0,nfe,1.314666796320421,3.597652891253746e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,654552,654552,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-5.562796472934832,-5.443980740569425,0.1188156943800694,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.443980740569425,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115738281:c:a|snv,False,False +1:237388137:G:T,RYR2,VCV002626900,2626900,NM_001035.3(RYR2):c.727G>T (p.Glu243Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052595712538076e-06,3.0,1461564.0,2.698200839680101e-06,3.0,nfe,1.3145309174463802,2.698200839680101e-06,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,2626900,2626900,RYR2-related disorder,RYR2-related disorder,RYR2-related disorder,variation_id,-5.68769658258466,-5.568925726895951,0.1187708050627338,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,-0.9668657355679884,True,False,True,False,True,True,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision|sads_sensitive,0.0|1:237388137:g:t|snv,True,False +7:150959571:C:T,KCNH2,VCV000419715,419715,NM_000238.4(KCNH2):c.472+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.0523569951851703e-06,3.0,1461734.0,2.698021271199702e-06,3.0,nfe,1.3145963216598953,2.698021271199702e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,419715,419715,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.68774709406998,-5.568954630672922,0.1187924127571855,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-0.9668946393449596,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary,0.0|7:150959571:c:t|snv,True,False +17:70175754:G:T,KCNJ2,VCV000463523,463523,NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,2.052146408333356e-06,3.0,1461884.0,2.6978320221869704e-06,3.0,nfe,1.3146390026523511,2.6978320221869704e-06,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,463523,463523,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,-5.687791658149379,-5.568985094733933,0.1188065127651505,anchored_exact,1.0,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-0.9669251034059708,True,False,True,False,True,False,False,True,False,disease_model_collision,penetrance_boundary|disease_model_collision,0.0|17:70175754:g:t|snv,False,False +15:73343471:G:A,HCN4,VCV000571947,571947,NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,2.0521492158737845e-06,3.0,1461882.0,2.6978320221869704e-06,3.0,nfe,1.314637204098756,2.6978320221869704e-06,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,571947,571947,Brugada syndrome 8||Cardiovascular phenotype,Brugada syndrome 8||Cardiovascular phenotype,Brugada syndrome 8||Cardiovascular phenotype,variation_id,-5.687791063991733,-5.568985094733933,0.1188059186077929,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,-0.9669251034059708,True,False,False,False,False,False,False,True,True,penetrance_boundary,canonical_monogenic|penetrance_boundary,0.0|15:73343471:g:a|snv,False,False +3:38585690:C:A,SCN5A,VCV000406420,406420,NM_000335.5(SCN5A):c.2787+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5024444771643463e-06,1.0,665582.0,2.0315788618282585e-06,1.0,nfe,1.3521820876073176,2.0315788618282585e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,406420,406420,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,-5.823201568381257,-5.6921663145671575,0.1310351785274578,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.0901063232391948,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|3:38585690:c:a|snv,True,False +1:115726990:A:T,CASQ2,VCV001033372,1033372,NM_001232.4(CASQ2):c.737+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5389374252653512e-06,2.0,1299598.0,1.9958008350430693e-06,2.0,nfe,1.296869193904846,1.9958008350430693e-06,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1033372,1033372,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-5.812779038657447,-5.699882800001281,0.1128961740562011,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.6998828000012813,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115726990:a:t|snv,False,False +7:150958430:G:T,KCNH2,VCV000372376,372376,NM_000238.4(KCNH2):c.545C>A (p.Ser182Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.5324754535744223e-06,2.0,1305078.0,1.915719822144572e-06,2.0,nfe,1.2500817338343122,1.915719822144572e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,372376,372376,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,-5.814606473065701,-5.717668007049792,0.0969384093222719,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.115608015721829,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150958430:g:t|snv,True,False +1:115740727:C:T,CASQ2,VCV002997913,2997913,NM_001232.4(CASQ2):c.420+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3897903223340694e-06,2.0,1439066.0,1.832653113586008e-06,2.0,nfe,1.318654163495695,1.832653113586008e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,2997913,2997913,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,-5.857050716812234,-5.736919730952796,0.1201309103460993,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.736919730952795,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115740727:c:t|snv,False,False +12:2566466:G:A,CACNA1C,VCV000372313,372313,NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.385381180704965e-06,2.0,1443646.0,1.8129572051451725e-06,2.0,nfe,1.3086339859103944,1.8129572051451725e-06,popmax,0.0,False,False,False,False,False,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.73; detectability=0.81,372313,372313,Hypertrophic cardiomyopathy 1|Long QT syndrome|Long QT syndrome 8|Cardiac arrhythmia|Timothy syndrome|Cardiovascular phenotype,Hypertrophic cardiomyopathy 1|Long QT syndrome|Long QT syndrome 8|Cardiac arrhythmia|Timothy syndrome|Cardiovascular phenotype,Hypertrophic cardiomyopathy 1|Long QT syndrome|Long QT syndrome 8|Cardiac arrhythmia|Timothy syndrome|Cardiovascular phenotype,variation_id,-5.858430716202212,-5.741612447304745,0.1168181949640892,anchored_exact,1.0,LQTS|arrhythmia|cardiomyopathy_overlap,assertion_condition_label,3,1.584962500721156,LQTS,structural_electrical,0.7,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.139552455976783,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|12:2566466:g:a|snv,True,False +3:38575391:C:T,SCN5A,VCV004757644,4757644,NM_000335.5(SCN5A):c.3569G>A (p.Trp1190Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3728588550082577e-06,2.0,1456814.0,1.802120013984452e-06,2.0,nfe,1.3126766052705447,1.802120013984452e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4757644,4757644,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,-5.862374110718113,-5.744216290118542,0.1181577452473548,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.1421562987905798,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|3:38575391:c:t|snv,True,False +3:38557230:C:T,SCN5A,VCV001739478,1739478,NM_000335.5(SCN5A):c.4296+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3704318367760864e-06,2.0,1459394.0,1.8015648392193456e-06,2.0,nfe,1.3145962289239144,1.8015648392193456e-06,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,1739478,1739478,Cardiovascular phenotype|Brugada syndrome|Brugada syndrome 1,Cardiovascular phenotype|Brugada syndrome|Brugada syndrome 1,Cardiovascular phenotype|Brugada syndrome|Brugada syndrome 1,variation_id,-5.863142560743384,-5.744350102784581,0.1187923821206125,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.1422901114566184,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|3:38557230:c:t|snv,True,False +3:38579405:C:A,SCN5A,VCV003376789,3376789,NM_000335.5(SCN5A):c.3316G>T (p.Glu1106Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.370383008347003e-06,2.0,1459446.0,1.8000990054452994e-06,2.0,nfe,1.313573417728825,1.8000990054452994e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3376789,3376789,Sick sinus syndrome 1,Sick sinus syndrome 1,Sick sinus syndrome 1,variation_id,-5.863158034913302,-5.744703608043295,0.1184543512168256,anchored_exact,1.0,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.1426436167153324,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|3:38579405:c:a|snv,True,False +3:38554314:A:G,SCN5A,VCV002505148,2505148,NM_000335.5(SCN5A):c.4775T>C (p.Ile1592Thr),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,1.3689291414897782e-06,2.0,1460996.0,1.7997555931904448e-06,2.0,nfe,1.3147176314138331,1.7997555931904448e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2505148,2505148,Primary dilated cardiomyopathy,Primary dilated cardiomyopathy,Primary dilated cardiomyopathy,variation_id,-5.863619031235198,-5.744786468083148,0.1188324872083267,anchored_exact,1.0,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.1427264767551852,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|3:38554314:a:g|snv,True,False +11:2445453:G:A,KCNQ1,VCV002801649,2801649,NM_000218.3(KCNQ1):c.355G>A (p.Gly119Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,1.3843723740186531e-06,2.0,1444698.0,1.7994155498294154e-06,2.0,nfe,1.299805806439304,1.7994155498294154e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,2801649,2801649,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-5.858747075898401,-5.744868530841418,0.1138784726979218,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.142808539513456,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|11:2445453:g:a|snv,True,False +1:115768427:C:A,CASQ2,VCV000488772,488772,NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368531975749613e-06,2.0,1461420.0,1.7992245342257486e-06,2.0,nfe,1.3147111294415277,1.7992245342257486e-06,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,488772,488772,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-5.863745050844741,-5.744914635492492,0.1188303393876778,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.744914635492492,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115768427:c:a|snv,False,False +3:38606149:C:T,SCN5A,VCV000463294,463294,NM_000335.5(SCN5A):c.1141-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3687398969886353e-06,2.0,1461198.0,1.7989623585116103e-06,2.0,nfe,1.314319870524441,1.7989623585116103e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,463294,463294,,,,unmatched,-5.86367907344012,-5.744977923737119,0.118701073821815,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.142917932409157,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|3:38606149:c:t|snv,True,False +3:38585786:C:A,SCN5A,VCV002844180,2844180,NM_000335.5(SCN5A):c.2692G>T (p.Glu898Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.368183708762943e-06,2.0,1461792.0,1.7986646713479913e-06,2.0,nfe,1.314636583662941,1.7986646713479913e-06,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2844180,2844180,,,,unmatched,-5.863855585111937,-5.745049795496874,0.1188057136448468,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.1429898041689115,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|3:38585786:c:a|snv,True,False +11:2776984:A:C,KCNQ1,VCV003384908,3384908,NM_000218.3(KCNQ1):c.1686-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3682061722516842e-06,2.0,1461768.0,1.7986582009820674e-06,2.0,nfe,1.3146102706229643,1.7986582009820674e-06,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,3384908,3384908,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome,variation_id,-5.863848454717783,-5.745051357794347,0.1187970209593002,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1429913664663844,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|11:2776984:a:c|snv,True,False +4:113355864:C:T,ANK2,VCV002499833,2499833,NM_001148.6(ANK2):c.7246C>T (p.Arg2416Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681743491936664e-06,2.0,1461802.0,1.7986290849114804e-06,2.0,nfe,1.31461956683513,1.7986290849114804e-06,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2499833,2499833,,,,unmatched,-5.863858556074949,-5.745058388063428,0.1188000920439111,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.1429983967354658,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|4:113355864:c:t|snv,False,False +4:113311389:C:T,ANK2,VCV003337797,3337797,NM_001148.6(ANK2):c.2683C>T (p.Arg895Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681537585920056e-06,2.0,1461824.0,1.7985837951197228e-06,2.0,nfe,1.3146062489090642,1.7985837951197228e-06,popmax,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,3337797,3337797,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-5.863865092122038,-5.745069323811355,0.118795692344375,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.1430093324833928,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|4:113311389:c:t|snv,False,False +7:150952811:G:A,KCNH2,VCV003340202,3340202,NM_000238.4(KCNH2):c.1171C>T (p.Gln391Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681780930060105e-06,2.0,1461798.0,1.7985611510791366e-06,2.0,nfe,1.3145663168463837,1.7985611510791366e-06,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,3340202,3340202,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,-5.863857367692184,-5.7450747915820575,0.1187825001525042,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1430148002540952,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150952811:g:a|snv,True,False +11:2662047:G:T,KCNQ1,VCV002773480,2773480,NM_000218.3(KCNQ1):c.1480G>T (p.Glu494Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3680994772491897e-06,2.0,1461882.0,1.7985417423552984e-06,2.0,nfe,1.3146276697246606,1.7985417423552984e-06,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.64; detectability=0.81,2773480,2773480,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,-5.863882323047414,-5.745079478187869,0.1188027688862876,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.1430194868599073,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|11:2662047:g:t|snv,True,False +4:113373351:C:T,ANK2,VCV000985692,985692,NM_001148.6(ANK2):c.11761C>T (p.Gln3921Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,1.3681575022916638e-06,,,1.3681575022916638e-06,,,7.309094657709624e-07,1.3681575022916638e-06,global,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,985692,985692,"Cardiac arrhythmia, ankyrin-B-related||Cardiovascular phenotype","Cardiac arrhythmia, ankyrin-B-related||Cardiovascular phenotype","Cardiac arrhythmia, ankyrin-B-related||Cardiovascular phenotype",variation_id,-5.8638639037571565,-5.8638639037571565,-6.136136413672907,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.261803912429194,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|4:113373351:c:t|snv,False,False +1:237491910:G:A,RYR2,VCV004800056,4800056,NM_001035.3(RYR2):c.1813G>A (p.Gly605Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,8.828400611631594e-07,1.0,1132708.0,1.188591424075157e-06,1.0,nfe,1.346326622494387,1.188591424075157e-06,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,4800056,4800056,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.054117967821953,-5.924967407588051,0.1291504336910386,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-1.3229074162600885,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:237491910:g:a|snv,True,False +6:123265339:C:A,TRDN,VCV003780743,3780743,NM_006073.4(TRDN):c.1784-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.908301660585183e-07,1.0,1264494.0,1.009801129765504e-06,1.0,nfe,1.2768871196595997,1.009801129765504e-06,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3780743,3780743,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.101916772966249,-5.995764147751594,0.106152506131242,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-2.9957641477515944,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|6:123265339:c:a|snv,False,False +6:123547339:C:A,TRDN,VCV002434223,2434223,NM_006073.4(TRDN):c.424+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.672194738715736e-07,1.0,1303408.0,9.723786131158318e-07,1.0,nfe,1.2674057148253322,9.723786131158318e-07,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,2434223,2434223,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,-6.115080382261232,-6.01216460177021,0.1029156610593101,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,-3.0121646017702104,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|6:123547339:c:a|snv,False,False +7:150948443:C:T,KCNH2,VCV003253477,3253477,NM_000238.4(KCNH2):c.2692+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.140001142400183e-07,1.0,1400560.0,9.379947922529134e-07,1.0,nfe,1.3137175468574929,9.379947922529134e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3253477,3253477,,,,unmatched,-6.146301718736703,-6.027799572817206,0.1185020006672812,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4257395814892433,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150948443:c:t|snv,True,False +7:150947870:G:A,KCNH2,VCV000927383,927383,NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,7.256662341695911e-07,1.0,1378044.0,9.289001265161972e-07,1.0,nfe,1.2800648600031863,9.289001265161972e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,927383,927383,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,-6.139263084518002,-6.032030977970395,0.1072319756071127,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4299709866424328,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150947870:g:a|snv,True,False +1:115740830:T:C,CASQ2,VCV003236407,3236407,NM_001232.4(CASQ2):c.320-2A>G,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.904131984910329e-07,1.0,1448408.0,9.091454578183782e-07,1.0,nfe,1.3168130953931796,9.091454578183782e-07,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,3236407,3236407,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,-6.160890914892737,-6.04136662670755,0.1195241368450452,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-3.041366626707549,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115740830:t:c|snv,False,False +3:38622399:C:G,SCN5A,VCV001743359,1743359,NM_000335.5(SCN5A):c.482+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.915447588514272e-07,1.0,1446038.0,9.088017448993502e-07,1.0,nfe,1.3141614033014393,9.088017448993502e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1743359,1743359,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.160179705803235,-6.04153084778685,0.1186487078861845,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4394708564588885,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|3:38622399:c:g|snv,True,False +7:150947500:C:T,KCNH2,VCV003544410,3544410,NM_000238.4(KCNH2):c.2980G>A (p.Val994Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.956705638131652e-07,1.0,1437462.0,9.081860255599876e-07,1.0,nfe,1.3054824615540808,9.081860255599876e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3544410,3544410,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,-6.1575963727297065,-6.041825184959691,0.1157710416883023,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.439765193631729,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150947500:c:t|snv,True,False +3:38609733:C:T,SCN5A,VCV001072847,1072847,NM_000335.5(SCN5A):c.934+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.89303389994072e-07,1.0,1450740.0,9.06547630919076e-07,1.0,nfe,1.315164452857862,9.06547630919076e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,1072847,1072847,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,variation_id,-6.161589585640299,-6.042609372702631,0.1189800619536475,anchored_exact,1.0,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4405493813746684,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|3:38609733:c:t|snv,True,False +3:38556452:G:A,SCN5A,VCV002506125,2506125,NM_000335.5(SCN5A):c.4423C>T (p.Gln1475Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.918940461133544e-07,1.0,1445308.0,9.058397678151508e-07,1.0,nfe,1.3092170162275525,9.058397678151508e-07,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,2506125,2506125,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id,-6.159960406571302,-6.042948617011904,0.1170116413088229,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4408886256839415,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|3:38556452:g:a|snv,True,False +1:115768539:C:T,CASQ2,VCV002811031,2811031,NM_001232.4(CASQ2):c.3G>A (p.Met1Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.879301283127276e-07,1.0,1453636.0,9.052477210388624e-07,1.0,nfe,1.3159002170161198,9.052477210388624e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2811031,2811031,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.162455669946475,-6.043232559845933,0.1192229585467276,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-3.0432325598459324,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115768539:c:t|snv,False,False +12:2448979:C:T,CACNA1C,VCV001208559,1208559,NM_000719.7(CACNA1C):c.481C>T (p.Arg161Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.877020984541832e-07,1.0,1454118.0,9.03404389099884e-07,1.0,nfe,1.3136561273761245,9.03404389099884e-07,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,1208559,1208559,,,,unmatched,-6.162599650449773,-6.044117803793188,0.11848169587234,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.442057812465226,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|12:2448979:c:t|snv,True,False +3:38620870:C:T,SCN5A,VCV004614939,4614939,NM_000335.5(SCN5A):c.584G>A (p.Trp195Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.886388364758219e-07,1.0,1452140.0,9.031253556056088e-07,1.0,nfe,1.3114640015997934,9.031253556056088e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4614939,4614939,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.16200848846908,-6.044251964559872,0.1177563741325234,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4421919732319095,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|3:38620870:c:t|snv,True,False +3:38556580:T:G,SCN5A,VCV004723996,4723996,NM_000335.5(SCN5A):c.4297-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.868782892884078e-07,1.0,1455862.0,9.02880731261162e-07,1.0,nfe,1.3144692893514494,9.02880731261162e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4723996,4723996,,,,unmatched,-6.163120210499755,-6.044369615330105,0.1187504439068127,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4423096240021422,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|3:38556580:t:g|snv,True,False +1:115732900:C:A,CASQ2,VCV003485292,3485292,NM_001232.4(CASQ2):c.606+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.861675483919663e-07,1.0,1457370.0,9.025515131276118e-07,1.0,nfe,1.3153510391036438,9.025515131276118e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,3485292,3485292,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.163569825317389,-6.044528001357354,0.1190416722177387,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.044528001357354,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|1:115732900:c:a|snv,False,False +1:115705285:G:T,CASQ2,VCV002794330,2794330,NM_001232.4(CASQ2):c.846C>A (p.Tyr282Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.86050803434096e-07,1.0,1457618.0,9.023935085420568e-07,1.0,nfe,1.3153445614821466,9.023935085420568e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2794330,2794330,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.163643722727445,-6.044604037490281,0.1190395334714152,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-3.044604037490281,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115705285:g:t|snv,False,False +3:38556579:C:T,SCN5A,VCV002203336,2203336,NM_000335.5(SCN5A):c.4297-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.857092702407663e-07,1.0,1458344.0,9.01297146853752e-07,1.0,nfe,1.3144008278267272,9.01297146853752e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2203336,2203336,,,,unmatched,-6.163859979180978,-6.045132003733958,0.1187278239514015,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4430720124059953,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|3:38556579:c:t|snv,True,False +1:115732970:G:T,CASQ2,VCV002865838,2865838,NM_001232.4(CASQ2):c.537C>A (p.Tyr179Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.853596219008038e-07,1.0,1459088.0,9.012305401795612e-07,1.0,nfe,1.31497420683443,9.012305401795612e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2865838,2865838,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.164081485698723,-6.045164099674874,0.118917234240728,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-3.045164099674875,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115732970:g:t|snv,False,False +6:123636754:C:G,TRDN,VCV003225249,3225249,NM_006073.4(TRDN):c.22G>C (p.Gly8Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.851398644519292e-07,1.0,1459556.0,9.005195998090898e-07,1.0,nfe,1.3143583261953748,9.005195998090898e-07,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3225249,3225249,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.1642207625816,-6.045506830322182,0.1187137806534892,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.0455068303221817,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|6:123636754:c:g|snv,False,False +3:38609765:C:T,SCN5A,VCV003338801,3338801,NM_000335.5(SCN5A):c.903G>A (p.Trp301Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.850206533726992e-07,1.0,1459810.0,9.004985159784457e-07,1.0,nfe,1.3145562794180925,9.004985159784457e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3338801,3338801,,,,unmatched,-6.164296334331549,-6.0455169985611645,0.1187791840654373,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4434570072332018,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|3:38609765:c:t|snv,True,False +3:38562434:G:C,SCN5A,VCV003367171,3367171,NM_000335.5(SCN5A):c.3941C>G (p.Ser1314Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,6.854404228893233e-07,1.0,1458916.0,9.002407243696964e-07,1.0,nfe,1.313375139446535,9.002407243696964e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3367171,3367171,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,-6.164030287241851,-6.0456413446868185,0.1183887913764487,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4435813533588564,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|3:38562434:g:c|snv,True,False +3:38622461:T:C,SCN5A,VCV002734486,2734486,NM_000335.5(SCN5A):c.421A>G (p.Ile141Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.851135781289822e-07,1.0,1459612.0,9.00009000090001e-07,1.0,nfe,1.3136634788123889,9.00009000090001e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2734486,2734486,,,,unmatched,-6.164237425199845,-6.045753147594141,0.1184841262490603,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4436931562661788,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|3:38622461:t:c|snv,True,False +7:150974870:C:A,KCNH2,VCV003720794,3720794,NM_000238.4(KCNH2):c.148G>T (p.Glu50Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.851408032864834e-07,1.0,1459554.0,8.998972317361358e-07,1.0,nfe,1.3134481466749075,8.998972317361358e-07,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,3720794,3720794,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,-6.164220167476267,-6.045807084158768,0.1184129320459767,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4437470928308056,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150974870:c:a|snv,True,False +11:2572011:A:C,KCNQ1,VCV000573008,573008,NM_000218.3(KCNQ1):c.684-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.850675819169561e-07,1.0,1459710.0,8.997595842390913e-07,1.0,nfe,1.3133876052546227,8.997595842390913e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,573008,573008,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164266583243557,-6.045873518545591,0.1183929134325239,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.443813527217629,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|11:2572011:a:c|snv,True,False +4:113345930:C:T,ANK2,VCV003338732,3338732,NM_001148.6(ANK2):c.4279C>T (p.Arg1427Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.843043840644669e-07,1.0,1461338.0,8.996155043334479e-07,1.0,nfe,1.3146418620735227,8.996155043334479e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3338732,3338732,,,,unmatched,-6.164750677643749,-6.045943068367087,0.1188074573814925,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.443883077039125,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|4:113345930:c:t|snv,False,False +11:2572021:G:T,KCNQ1,VCV000519257,519257,NM_000218.3(KCNQ1):c.692G>T (p.Arg231Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.8483018950621e-07,1.0,1460216.0,8.9957989618848e-07,1.0,nfe,1.3135804997974945,8.9957989618848e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,519257,519257,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.164417102818398,-6.045960258741038,0.118456692688578,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4439002674130756,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|11:2572021:g:t|snv,True,False +3:38606682:C:A,SCN5A,VCV003338339,3338339,NM_000335.5(SCN5A):c.1127G>T (p.Arg376Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.845236057965459e-07,1.0,1460870.0,8.995620931730434e-07,1.0,nfe,1.314142816131888,8.995620931730434e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3338339,3338339,Atrial fibrillation,Atrial fibrillation,Atrial fibrillation,variation_id,-6.164611570626542,-6.045968853672857,0.1186425652904296,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4439088623448948,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|3:38606682:c:a|snv,True,False +1:237445485:A:T,RYR2,VCV003720290,3720290,NM_001035.3(RYR2):c.1255A>T (p.Ile419Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842641150001642e-07,1.0,1461424.0,8.995378174693842e-07,1.0,nfe,1.3146056955850631,8.995378174693842e-07,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,3720290,3720290,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.1647762351988655,-6.04598057376031,0.1187955095477307,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-1.443920582432347,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:237445485:a:t|snv,True,False +1:237441382:G:A,RYR2,VCV000519533,519533,NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842332140486764e-07,1.0,1461490.0,8.995167795860064e-07,1.0,nfe,1.3146343183622424,8.995167795860064e-07,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,519533,519533,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy,variation_id,-6.16479584811653,-6.045990730913602,0.11880496529473,anchored_exact,1.0,CPVT|arrhythmia|cardiomyopathy_overlap,assertion_condition_label,3,1.584962500721156,CPVT,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-1.44393073958564,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:237441382:g:a|snv,True,False +1:115768343:G:A,CASQ2,VCV001784131,1784131,NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842023158879988e-07,1.0,1461556.0,8.995151613280442e-07,1.0,nfe,1.3146913211909823,8.995151613280442e-07,popmax,0.0,False,False,False,False,False,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.51; detectability=0.81,1784131,1784131,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,-6.164815460148506,-6.045991512223247,0.1188237959892671,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,-3.0459915122232477,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115768343:g:a|snv,False,False +3:38557231:C:A,SCN5A,VCV001527872,1527872,NM_000335.5(SCN5A):c.4296G>T (p.Gly1432=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,other_or_unresolved,6.842828442079563e-07,1.0,1461384.0,8.995119248295874e-07,1.0,nfe,1.314531875103312,8.995119248295874e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1527872,1527872,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,-6.164764348151015,-6.04599307483832,0.1187711214531389,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,-1.4439330835103572,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|3:38557231:c:a|snv,True,False +1:115701358:C:T,CASQ2,VCV002574853,2574853,NM_001232.4(CASQ2):c.1083G>A (p.Trp361Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841751652625111e-07,1.0,1461614.0,8.994730886646602e-07,1.0,nfe,1.3146819990718934,8.994730886646602e-07,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2574853,2574853,,,,unmatched,-6.164832694233389,-6.046011825780659,0.1188207165141323,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,-3.046011825780659,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|1:115701358:c:t|snv,False,False +4:113317711:C:T,ANK2,VCV002631072,2631072,NM_001148.6(ANK2):c.2698C>T (p.Arg900Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842659878748067e-07,1.0,1461420.0,8.994682343798347e-07,1.0,nfe,1.3145004074701925,8.994682343798347e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2631072,2631072,ANK2-related disorder,ANK2-related disorder,ANK2-related disorder,variation_id,-6.164775046508722,-6.046014169591529,0.1187607250654539,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4439541782635663,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|4:113317711:c:t|snv,False,False +3:38585767:C:T,SCN5A,VCV004747274,4747274,NM_000335.5(SCN5A):c.2711G>A (p.Trp904Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841536335399477e-07,1.0,1461660.0,8.994035155884617e-07,1.0,nfe,1.3146216827251025,8.994035155884617e-07,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4747274,4747274,,,,unmatched,-6.164846362159262,-6.046045419194488,0.118800791043548,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,-1.4439854278665258,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|3:38585767:c:t|snv,True,False +1:237784136:G:A,RYR2,VCV001009997,1009997,NM_001035.3(RYR2):c.12424G>A (p.Ala4142Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.841424001357339e-07,1.0,1461684.0,8.993986620545503e-07,1.0,nfe,1.3146361740478818,8.993986620545503e-07,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,1009997,1009997,Catecholaminergic polymorphic ventricular tachycardia 1|Paroxysmal familial ventricular fibrillation,Catecholaminergic polymorphic ventricular tachycardia 1|Paroxysmal familial ventricular fibrillation,Catecholaminergic polymorphic ventricular tachycardia 1|Paroxysmal familial ventricular fibrillation,variation_id,-6.164853493080266,-6.046047762824068,0.1188055783271553,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,-1.4439877714961054,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:237784136:g:a|snv,True,False +4:113353464:T:C,ANK2,VCV004689790,4689790,NM_001148.6(ANK2):c.4846T>C (p.Cys1616Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840993421700726e-07,1.0,1461776.0,8.993210126354602e-07,1.0,nfe,1.314605412683571,8.993210126354602e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,4689790,4689790,,,,unmatched,-6.164880827192824,-6.046085259177423,0.1187954160880944,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4440252678494607,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|4:113353464:t:c|snv,False,False +11:2585278:C:T,KCNQ1,VCV001791538,1791538,NM_000218.3(KCNQ1):c.1099C>T (p.Gln367Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.841676758139885e-07,1.0,1461630.0,8.993096898820465e-07,1.0,nfe,1.3144575624016888,8.993096898820465e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,1791538,1791538,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.164837448343351,-6.046090727125146,0.1187465693603854,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440307357971842,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|11:2585278:c:t|snv,True,False +4:113341707:C:T,ANK2,VCV003376712,3376712,NM_001148.6(ANK2):c.3913C>T (p.Arg1305Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840834308152222e-07,1.0,1461810.0,8.992999848917603e-07,1.0,nfe,1.3146052510215225,8.992999848917603e-07,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3376712,3376712,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,-6.164890928494708,-6.046095413882688,0.11879536268124,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.4440354225547252,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|4:113341707:c:t|snv,False,False +11:2777974:A:G,KCNQ1,VCV001415094,1415094,NM_000218.3(KCNQ1):c.1733-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.842163601605445e-07,1.0,1461526.0,8.992951324751659e-07,1.0,nfe,1.3143427583657852,8.992951324751659e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,1415094,1415094,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164806545698307,-6.046097757242491,0.118708636650981,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440377659145291,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|11:2777974:a:g|snv,True,False +4:113330289:C:T,ANK2,VCV000809661,809661,NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840693919991244e-07,1.0,1461840.0,8.992935150146045e-07,1.0,nfe,1.3146227720607964,8.992935150146045e-07,popmax,0.0,False,False,False,False,False,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.61; detectability=0.81,809661,809661,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,-6.164899841213027,-6.046098538359616,0.1188011509130762,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,-1.444038547031654,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|4:113330289:c:t|snv,False,False +17:70176216:G:T,KCNJ2,VCV000638351,638351,NM_000891.3(KCNJ2):c.1177G>T (p.Gly393Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840750074564176e-07,1.0,1461828.0,8.992886626678298e-07,1.0,nfe,1.314604887272155,8.992886626678298e-07,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,638351,638351,Andersen Tawil syndrome,Andersen Tawil syndrome,Andersen Tawil syndrome,variation_id,-6.1648962761476485,-6.046100881702562,0.1187952425125697,anchored_exact,1.0,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.444040890374599,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|17:70176216:g:t|snv,False,False +15:73329725:C:T,HCN4,VCV000970883,970883,NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840675202005138e-07,1.0,1461844.0,8.992870452305412e-07,1.0,nfe,1.314616911427151,8.992870452305412e-07,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,970883,970883,Brugada syndrome 8|Left ventricular noncompaction cardiomyopathy|Cardiovascular phenotype|HCN4-related disorder,Brugada syndrome 8|Left ventricular noncompaction cardiomyopathy|Cardiovascular phenotype|HCN4-related disorder,Brugada syndrome 8|Left ventricular noncompaction cardiomyopathy|Cardiovascular phenotype|HCN4-related disorder,variation_id,-6.16490102956165,-6.046101662814067,0.1187992148089861,anchored_exact,1.0,Brugada|cardiomyopathy_overlap,assertion_condition_label,2,1.0,Brugada,structural_electrical,0.7,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,-1.4440416714861042,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|15:73329725:c:t|snv,False,False +11:2572904:T:C,KCNQ1,VCV002735505,2735505,NM_000218.3(KCNQ1):c.839T>C (p.Val280Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.842322776997754e-07,1.0,1461492.0,8.992854277990709e-07,1.0,nfe,1.3142979991009085,8.992854277990709e-07,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,2735505,2735505,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164796442433541,-6.046102443924167,0.1186938467245168,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440424525962046,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|11:2572904:t:c|snv,True,False +15:73329721:T:C,HCN4,VCV001504964,1504964,NM_005477.3(HCN4):c.1442A>G (p.Tyr481Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840656484121468e-07,1.0,1461848.0,8.992838103734187e-07,1.0,nfe,1.314615779706313,8.992838103734187e-07,popmax,0.0,False,False,False,False,True,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.50; detectability=0.81,1504964,1504964,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,-6.164902217907022,-6.046103225032862,0.1187988409355615,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,-1.4440432337049,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|15:73329721:t:c|snv,False,False +7:150950951:C:T,KCNH2,VCV001405357,1405357,NM_000238.4(KCNH2):c.2115G>A (p.Trp705Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,6.840506744739651e-07,1.0,1461880.0,8.992741059416839e-07,1.0,nfe,1.3146303700421835,8.992741059416839e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1405357,1405357,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164911724552935,-6.0461079116555325,0.1188036609501185,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440479203275705,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150950951:c:t|snv,True,False +17:70175958:A:G,KCNJ2,VCV000519476,519476,NM_000891.3(KCNJ2):c.919A>G (p.Met307Val),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840478669335365e-07,1.0,1461886.0,8.992741059416839e-07,1.0,nfe,1.3146357656770435,8.992741059416839e-07,popmax,0.0,False,False,False,False,False,0.5,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.50; detectability=0.81,519476,519476,Cardiovascular phenotype|Andersen Tawil syndrome;Short QT syndrome type 3|Cardiac arrhythmia,Cardiovascular phenotype|Andersen Tawil syndrome;Short QT syndrome type 3|Cardiac arrhythmia,Cardiovascular phenotype|Andersen Tawil syndrome;Short QT syndrome type 3|Cardiac arrhythmia,variation_id,-6.164913507025877,-6.0461079116555325,0.1188054434204544,anchored_exact,1.0,SQTS|arrhythmia,assertion_condition_label,2,1.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,-1.4440479203275705,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|17:70175958:a:g|snv,False,False +7:150951556:T:C,KCNH2,VCV002049671,2049671,NM_000238.4(KCNH2):c.1837A>G (p.Thr613Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,6.840488027777854e-07,1.0,1461884.0,8.992708711776492e-07,1.0,nfe,1.314629238289217,8.992708711776492e-07,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,2049671,2049671,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,-6.164912912869042,-6.046109473851851,0.1188032870699077,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4440494825238883,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150951556:t:c|snv,True,False +7:150958158:G:A,KCNH2,VCV001076382,1076382,NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,8.45374281009174e-07,,,8.45374281009174e-07,,,1.1829066007303187e-06,8.45374281009174e-07,global,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,1076382,1076382,Long QT syndrome|Long QT syndrome 2||Cardiac arrhythmia,Long QT syndrome|Long QT syndrome 2||Cardiac arrhythmia,Long QT syndrome|Long QT syndrome 2||Cardiac arrhythmia,variation_id,-6.072950968933901,-6.072950968933901,-5.927049544796213,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,-1.4708909776059382,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|7:150958158:g:a|snv,True,False +11:2571404:G:T,KCNQ1,VCV004614411,4614411,NM_000218.3(KCNQ1):c.683+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1457628.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,4614411,4614411,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|11:2571404:g:t|snv,True,False +11:2445143:G:A,KCNQ1,VCV004531894,4531894,NM_000218.3(KCNQ1):c.45G>A (p.Trp15Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,978626.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,4531894,4531894,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|11:2445143:g:a|snv,True,False +11:2571378:C:T,KCNQ1,VCV004081467,4081467,NM_000218.3(KCNQ1):c.658C>T (p.Gln220Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1460484.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,4081467,4081467,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|11:2571378:c:t|snv,True,False +11:2572057:G:T,KCNQ1,VCV002904944,2904944,NM_000218.3(KCNQ1):c.728G>T (p.Arg243Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1460642.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,2904944,2904944,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|11:2572057:g:t|snv,True,False +11:2445447:C:A,KCNQ1,VCV001489978,1489978,NM_000218.3(KCNQ1):c.349C>A (p.Pro117Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1445140.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,1489978,1489978,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|11:2445447:c:a|snv,True,False +11:2775960:C:T,KCNQ1,VCV000965523,965523,NM_000218.3(KCNQ1):c.1591C>T (p.Gln531Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1404394.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,965523,965523,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|11:2775960:c:t|snv,True,False +11:2445251:C:A,KCNQ1,VCV000933168,933168,NM_000218.3(KCNQ1):c.153C>A (p.Tyr51Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1046344.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.64; detectability=0.81,933168,933168,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,0.0,anchored_exact,1.0,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|11:2445251:c:a|snv,True,False +11:2570756:T:C,KCNQ1,VCV000869440,869440,NM_000218.3(KCNQ1):c.604+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458098.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,869440,869440,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|11:2570756:t:c|snv,True,False +11:2445149:G:A,KCNQ1,VCV000663623,663623,NM_000218.3(KCNQ1):c.51G>A (p.Trp17Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,983778.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,663623,663623,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|11:2445149:g:a|snv,True,False +11:2776056:T:C,KCNQ1,VCV000637975,637975,NM_000218.3(KCNQ1):c.1685+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1402144.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,637975,637975,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|11:2776056:t:c|snv,True,False +11:2445100:T:A,KCNQ1,VCV000488859,488859,NM_000218.3(KCNQ1):c.2T>A (p.Met1Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,936200.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,488859,488859,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|11:2445100:t:a|snv,True,False +11:2445222:G:T,KCNQ1,VCV000488698,488698,NM_000218.3(KCNQ1):c.124G>T (p.Glu42Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,987170.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,488698,488698,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|11:2445222:g:t|snv,True,False +11:2572089:G:A,KCNQ1,VCV000444879,444879,NM_000218.2(KCNQ1):c.[1249G>A;760G>A],Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,other_or_unresolved,0.0,0.0,1460076.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,444879,444879,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|11:2572089:g:a|snv,True,False +11:2445103:C:G,KCNQ1,VCV000431053,431053,NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,940006.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,431053,431053,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|11:2445103:c:g|snv,True,False +11:2445213:G:T,KCNQ1,VCV000375455,375455,NM_000218.3(KCNQ1):c.115G>T (p.Glu39Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,992758.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6403508771929824,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.64; detectability=0.81,375455,375455,"Jervell and Lange-Nielsen syndrome 1|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1","Jervell and Lange-Nielsen syndrome 1|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1","Jervell and Lange-Nielsen syndrome 1|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1",variation_id,,,0.0,anchored_exact,1.0,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|11:2445213:g:t|snv,True,False +7:150958504:T:G,KCNH2,VCV004730168,4730168,NM_000238.4(KCNH2):c.473-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1323936.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,4730168,4730168,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150958504:t:g|snv,True,False +7:150974834:G:A,KCNH2,VCV004725502,4725502,NM_000238.4(KCNH2):c.184C>T (p.Arg62Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1456028.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,4725502,4725502,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150974834:g:a|snv,True,False +7:150947786:C:A,KCNH2,VCV003895444,3895444,NM_000238.4(KCNH2):c.2785G>T (p.Glu929Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1381744.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3895444,3895444,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150947786:c:a|snv,True,False +7:150958442:G:T,KCNH2,VCV003730888,3730888,NM_000238.4(KCNH2):c.533C>A (p.Ser178Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1311954.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3730888,3730888,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150958442:g:t|snv,True,False +7:150950422:T:C,KCNH2,VCV003720789,3720789,NM_000238.4(KCNH2):c.2146-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458974.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3720789,3720789,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150950422:t:c|snv,True,False +7:150948486:G:A,KCNH2,VCV003720786,3720786,NM_000238.4(KCNH2):c.2650C>T (p.Gln884Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1373460.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3720786,3720786,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150948486:g:a|snv,True,False +7:150948443:C:A,KCNH2,VCV003544414,3544414,NM_000238.4(KCNH2):c.2692+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1400560.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3544414,3544414,Hypertrophic cardiomyopathy 26,Hypertrophic cardiomyopathy 26,Hypertrophic cardiomyopathy 26,variation_id,,,0.0,anchored_exact,1.0,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150948443:c:a|snv,True,False +7:150958110:C:A,KCNH2,VCV003338695,3338695,NM_000238.4(KCNH2):c.865G>T (p.Glu289Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1144896.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3338695,3338695,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150958110:c:a|snv,True,False +7:150945490:C:A,KCNH2,VCV003254535,3254535,NM_000238.4(KCNH2):c.3355G>T (p.Glu1119Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1407476.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,3254535,3254535,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150945490:c:a|snv,True,False +7:150958287:C:A,KCNH2,VCV002831712,2831712,NM_000238.4(KCNH2):c.688G>T (p.Glu230Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1311050.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,2831712,2831712,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150958287:c:a|snv,True,False +7:150958446:C:A,KCNH2,VCV002136630,2136630,NM_000238.4(KCNH2):c.529G>T (p.Glu177Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1314472.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,2136630,2136630,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150958446:c:a|snv,True,False +7:150947458:G:A,KCNH2,VCV001968021,1968021,NM_000238.4(KCNH2):c.3022C>T (p.Gln1008Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1416682.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,1968021,1968021,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150947458:g:a|snv,True,False +7:150958335:C:A,KCNH2,VCV001810619,1810619,NM_000238.4(KCNH2):c.640G>T (p.Glu214Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1337032.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1810619,1810619,,,,unmatched,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150958335:c:a|snv,True,False +7:150974768:G:A,KCNH2,VCV001792370,1792370,NM_000238.4(KCNH2):c.250C>T (p.Gln84Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1453842.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1792370,1792370,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150974768:g:a|snv,True,False +7:150947344:G:A,KCNH2,VCV001728012,1728012,NM_000238.4(KCNH2):c.3136C>T (p.Gln1046Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1391714.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1728012,1728012,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150947344:g:a|snv,True,False +7:150958504:T:C,KCNH2,VCV001466419,1466419,NM_000238.4(KCNH2):c.473-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1323936.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1466419,1466419,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150958504:t:c|snv,True,False +7:150974786:C:T,KCNH2,VCV001197726,1197726,NM_000238.4(KCNH2):c.232G>A (p.Ala78Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1452442.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,1197726,1197726,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150974786:c:t|snv,True,False +7:150974942:C:A,KCNH2,VCV001171507,1171507,NM_000238.4(KCNH2):c.77-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1440802.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1171507,1171507,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,0.0,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150974942:c:a|snv,True,False +7:150977837:C:T,KCNH2,VCV001066606,1066606,NM_000238.4(KCNH2):c.76+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1395200.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,1066606,1066606,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150977837:c:t|snv,True,False +7:150950166:A:T,KCNH2,VCV000560686,560686,NM_000238.4(KCNH2):c.2398+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,550050.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.83; detectability=0.81,560686,560686,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150950166:a:t|snv,True,False +7:150947327:C:A,KCNH2,VCV000373026,373026,NM_000238.4(KCNH2):c.3152+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1388730.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8263888888888888,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.83; detectability=0.81,373026,373026,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|7:150947327:c:a|snv,True,False +3:38550937:G:T,SCN5A,VCV004756584,4756584,NM_000335.5(SCN5A):c.5432C>A (p.Ser1811Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461814.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,4756584,4756584,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,0.0,anchored_exact,1.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|3:38550937:g:t|snv,True,False +3:38613754:G:C,SCN5A,VCV003950971,3950971,NM_000335.5(SCN5A):c.692C>G (p.Ser231Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1450430.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3950971,3950971,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|3:38613754:g:c|snv,True,False +3:38597755:C:A,SCN5A,VCV003717482,3717482,NM_000335.5(SCN5A):c.2236G>T (p.Glu746Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1456158.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3717482,3717482,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|3:38597755:c:a|snv,True,False +3:38581200:G:A,SCN5A,VCV003662749,3662749,NM_000335.5(SCN5A):c.2959C>T (p.Gln987Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1458838.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3662749,3662749,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|3:38581200:g:a|snv,True,False +3:38560152:G:A,SCN5A,VCV003662441,3662441,NM_000335.5(SCN5A):c.4237C>T (p.Gln1413Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1459868.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,3662441,3662441,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|3:38560152:g:a|snv,True,False +3:38606687:C:T,SCN5A,VCV002910169,2910169,NM_000335.5(SCN5A):c.1122G>A (p.Trp374Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461218.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,2910169,2910169,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|3:38606687:c:t|snv,True,False +3:38579496:C:T,SCN5A,VCV001965471,1965471,NM_001099404.2(SCN5A):c.3229-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1455140.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1965471,1965471,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|3:38579496:c:t|snv,True,False +3:38613808:C:T,SCN5A,VCV001684121,1684121,NM_000335.5(SCN5A):c.638G>A (p.Gly213Asp),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1457634.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.66; detectability=0.81,1684121,1684121,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|3:38613808:c:t|snv,True,False +3:38556559:C:T,SCN5A,VCV001375303,1375303,NM_000335.5(SCN5A):c.4316G>A (p.Trp1439Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461152.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,1375303,1375303,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|3:38556559:c:t|snv,True,False +3:38566558:C:A,SCN5A,VCV000979202,979202,NM_000335.5(SCN5A):c.3688G>T (p.Glu1230Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1461610.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,979202,979202,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,0.0,anchored_exact,1.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|3:38566558:c:a|snv,True,False +3:38613824:C:A,SCN5A,VCV000858096,858096,NM_000335.5(SCN5A):c.622G>T (p.Glu208Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1455108.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6637931034482759,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.66; detectability=0.81,858096,858096,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|3:38613824:c:a|snv,True,False +21:34449585:C:T,KCNE1,VCV000547163,547163,NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,LOF,0.0,0.0,908958.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.4166666666666667,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.42; detectability=0.81,547163,547163,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,False,False,False,False,False,True,canonical_monogenic,canonical_monogenic,0.0|21:34449585:c:t|snv,True,False +1:237828429:T:C,RYR2,VCV004746934,4746934,NM_001035.3(RYR2):c.14639T>C (p.Val4880Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1413372.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,4746934,4746934,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:237828429:t:c|snv,True,False +1:237795313:C:A,RYR2,VCV002828493,2828493,NM_001035.3(RYR2):c.13938C>A (p.Asp4646Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1276004.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,2828493,2828493,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:237795313:c:a|snv,True,False +1:237491911:G:T,RYR2,VCV002737123,2737123,NM_001035.3(RYR2):c.1814G>T (p.Gly605Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1129636.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,2737123,2737123,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:237491911:g:t|snv,True,False +1:237772037:G:T,RYR2,VCV002203008,2203008,NM_001035.3(RYR2):c.11583G>T (p.Gln3861His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1394334.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,2203008,2203008,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:237772037:g:t|snv,True,False +1:237778753:C:A,RYR2,VCV001804987,1804987,NM_001035.3(RYR2):c.11863C>A (p.Gln3955Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1448574.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1804987,1804987,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:237778753:c:a|snv,True,False +1:237042549:G:T,RYR2,VCV001678118,1678118,NM_001035.3(RYR2):c.28G>T (p.Glu10Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1108862.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1678118,1678118,,,,unmatched,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|1:237042549:g:t|snv,True,False +1:237772077:G:T,RYR2,VCV001480581,1480581,NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1386722.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,1480581,1480581,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia|cardiomyopathy_overlap,assertion_condition_label,3,1.584962500721156,CPVT,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:237772077:g:t|snv,True,False +1:237828428:G:A,RYR2,VCV001439521,1439521,NM_001035.3(RYR2):c.14638G>A (p.Val4880Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1413512.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1439521,1439521,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:237828428:g:a|snv,True,False +1:237772075:C:T,RYR2,VCV001328938,1328938,NM_001035.3(RYR2):c.11621C>T (p.Thr3874Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,,,0.0,,,1.0,0.0,global,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1328938,1328938,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:237772075:c:t|snv,True,False +1:237772033:C:T,RYR2,VCV001035886,1035886,NM_001035.3(RYR2):c.11579C>T (p.Thr3860Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,,,0.0,,,1.0,0.0,global,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,1035886,1035886,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:237772033:c:t|snv,True,False +1:237784046:G:A,RYR2,VCV001021015,1021015,NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1461680.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,1021015,1021015,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:237784046:g:a|snv,True,False +1:237783718:G:A,RYR2,VCV000869430,869430,NM_001035.3(RYR2):c.12006G>A (p.Met4002Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1459208.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,869430,869430,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:237783718:g:a|snv,True,False +1:237772044:A:G,RYR2,VCV000656670,656670,NM_001035.3(RYR2):c.11590A>G (p.Asn3864Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1400372.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,656670,656670,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:237772044:a:g|snv,True,False +1:237772078:T:C,RYR2,VCV000581079,581079,NM_001035.3(RYR2):c.11624T>C (p.Val3875Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1384914.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,581079,581079,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:237772078:t:c|snv,True,False +1:237369568:A:G,RYR2,VCV000572162,572162,NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1412948.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,572162,572162,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:237369568:a:g|snv,True,False +1:237042565:G:C,RYR2,VCV000463600,463600,NM_001035.3(RYR2):c.44G>C (p.Arg15Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1109590.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.80; detectability=0.81,463600,463600,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:237042565:g:c|snv,True,False +1:237772077:G:A,RYR2,VCV000404183,404183,NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1386722.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.8035714285714286,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.80; detectability=0.81,404183,404183,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:237772077:g:a|snv,True,False +1:115705191:C:T,CASQ2,VCV002754358,2754358,NM_001232.4(CASQ2):c.939+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1449556.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2754358,2754358,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115705191:c:t|snv,False,False +1:115726993:T:A,CASQ2,VCV002505552,2505552,NM_001232.4(CASQ2):c.736A>T (p.Arg246Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1209268.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,2505552,2505552,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115726993:t:a|snv,False,False +1:115702920:C:T,CASQ2,VCV001457736,1457736,NM_001232.4(CASQ2):c.1014+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1459946.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.5125,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.51; detectability=0.81,1457736,1457736,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|1:115702920:c:t|snv,False,False +6:123512333:C:A,TRDN,VCV003894738,3894738,NM_006073.4(TRDN):c.580G>T (p.Glu194Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1350466.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3894738,3894738,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|6:123512333:c:a|snv,False,False +6:123438943:C:T,TRDN,VCV003717909,3717909,NM_006073.4(TRDN):c.991+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1406010.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,3717909,3717909,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|6:123438943:c:t|snv,False,False +6:123547340:C:A,TRDN,VCV002762883,2762883,NM_006073.4(TRDN):c.424G>T (p.Glu142Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1302576.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,2762883,2762883,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|6:123547340:c:a|snv,False,False +6:123278327:C:A,TRDN,VCV002434224,2434224,NM_006073.4(TRDN):c.1558G>T (p.Glu520Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1144364.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,2434224,2434224,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|6:123278327:c:a|snv,False,False +6:123548540:C:T,TRDN,VCV001799347,1799347,NM_006073.4(TRDN):c.305G>A (p.Trp102Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1423754.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.39; detectability=0.81,1799347,1799347,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,0.0,anchored_exact,1.0,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,False,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive,0.0|6:123548540:c:t|snv,False,False +6:123548453:C:T,TRDN,VCV001517713,1517713,NM_006073.4(TRDN):c.391+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1401032.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,False,0.390625,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,type=SNV; gene_constraint=0.39; detectability=0.81,1517713,1517713,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,,,0.0,anchored_exact,1.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|6:123548453:c:t|snv,False,False +2:47160803:C:G,CALM2,VCV001467722,1467722,NM_001743.6(CALM2):c.423G>C (p.Glu141Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1220958.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.75,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.75; detectability=0.81,1467722,1467722,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|2:47160803:c:g|snv,False,False +4:113264996:G:A,ANK2,VCV003721367,3721367,NM_001148.6(ANK2):c.1485+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1405178.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,3721367,3721367,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|4:113264996:g:a|snv,False,False +4:113264927:C:T,ANK2,VCV002446019,2446019,NM_001148.6(ANK2):c.1417C>T (p.Arg473Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1415518.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.6136363636363636,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.61; detectability=0.81,2446019,2446019,See cases,See cases,See cases,variation_id,,,0.0,anchored_exact,1.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|4:113264927:c:t|snv,False,False +12:2595878:C:T,CACNA1C,VCV003899523,3899523,NM_000719.7(CACNA1C):c.2668C>T (p.Arg890Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1461100.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,3899523,3899523,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|12:2595878:c:t|snv,True,False +12:2566430:G:A,CACNA1C,VCV003601972,3601972,NM_000719.7(CACNA1C):c.1517G>A (p.Trp506Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1440630.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,3601972,3601972,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|12:2566430:g:a|snv,True,False +12:2566465:C:A,CACNA1C,VCV003233417,3233417,NM_000719.7(CACNA1C):c.1552C>A (p.Arg518Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,frequency_observed,SNV,missense,0.0,0.0,1443586.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,3233417,3233417,Timothy syndrome;Long QT syndrome,Timothy syndrome;Long QT syndrome,Timothy syndrome;Long QT syndrome,variation_id,,,0.0,anchored_exact,1.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|12:2566465:c:a|snv,True,False +12:2581622:C:T,CACNA1C,VCV001707563,1707563,NM_000719.7(CACNA1C):c.1928C>T (p.Ser643Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,missense,0.0,0.0,1426284.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,1707563,1707563,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|12:2581622:c:t|snv,True,False +12:2666684:A:G,CACNA1C,VCV001218634,1218634,NM_000719.7(CACNA1C):c.4527-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,frequency_observed,SNV,LOF,0.0,0.0,1427552.0,0.0,,,1.0,0.0,popmax,0.0,False,False,False,False,True,0.7307692307692307,0.811340206185567,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,green_frequency_consistent,False,,weak_review; type=SNV; gene_constraint=0.73; detectability=0.81,1218634,1218634,,,,unmatched,,,0.0,anchored_exact,1.0,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,False,True,False,False,False,False,disease_model_collision,disease_model_collision,0.0|12:2666684:a:g|snv,True,False +11:2571331:T:TC,KCNQ1,VCV004811016,4811016,NM_000218.3(KCNQ1):c.612dup (p.Val205fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4811016,4811016,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2571331:t:tc|duplication,True,False +11:2585246:A:AGCAGAAGCAGAG,KCNQ1,VCV004750132,4750132,NM_000218.3(KCNQ1):c.1077_1088dup (p.Lys362_His363insGlnArgGlnLys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4750132,4750132,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2585246:a:agcagaagcagag|duplication,True,False +11:2445473:C:G,KCNQ1,VCV004732891,4732891,NM_000218.3(KCNQ1):c.375C>G (p.Tyr125Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4732891,4732891,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445473:c:g|snv,True,False +11:2778034:C:CA,KCNQ1,VCV004719475,4719475,NM_000218.3(KCNQ1):c.1793dup (p.Val599fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4719475,4719475,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2778034:c:ca|duplication,True,False +11:2527967:GT:G,KCNQ1,VCV004714005,4714005,NM_000218.3(KCNQ1):c.427del (p.Ser143fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4714005,4714005,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2527967:gt:g|deletion,True,False +11:2583471:C:A,KCNQ1,VCV004709530,4709530,NM_000218.3(KCNQ1):c.958C>A (p.Pro320Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4709530,4709530,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583471:c:a|snv,True,False +11:2777975:G:A,KCNQ1,VCV004688928,4688928,NM_000218.3(KCNQ1):c.1733-1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4688928,4688928,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2777975:g:a|snv,True,False +11:2572936:TC:T,KCNQ1,VCV004278376,4278376,NM_000218.3(KCNQ1):c.872del (p.Glu290_Ser291insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4278376,4278376,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572936:tc:t|deletion,True,False +11:2768837:ACTGCAGG:A,KCNQ1,VCV004090692,4090692,NM_000218.3(KCNQ1):c.1515-2_1519del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4090692,4090692,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2768837:actgcagg:a|deletion,True,False +11:2778007:C:CA,KCNQ1,VCV004084700,4084700,NM_000218.3(KCNQ1):c.1764_1765insA (p.Gly589fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4084700,4084700,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2778007:c:ca|insertion,True,False +11:2777984:AAGGATCGCGGC:A,KCNQ1,VCV004084699,4084699,NM_000218.3(KCNQ1):c.1744_1754del (p.Asp582fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4084699,4084699,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2777984:aaggatcgcggc:a|deletion,True,False +11:2775999:CAGTAC:GTGAG,KCNQ1,VCV004076475,4076475,NM_000218.3(KCNQ1):c.1630_1635delinsGTGAG (p.Gln544fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4076475,4076475,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2775999:cagtac:gtgag|deletion,True,False +11:2572977:G:A,KCNQ1,VCV004070996,4070996,NM_000218.3(KCNQ1):c.912G>A (p.Trp304Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4070996,4070996,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572977:g:a|snv,True,False +11:2778014:C:G,KCNQ1,VCV003901502,3901502,NM_000218.3(KCNQ1):c.1771C>G (p.Arg591Gly),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3901502,3901502,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2778014:c:g|snv,True,False +11:2585274:C:G,KCNQ1,VCV003898708,3898708,NM_000218.3(KCNQ1):c.1095C>G (p.Asn365Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3898708,3898708,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2585274:c:g|snv,True,False +11:2585218:C:T,KCNQ1,VCV003895224,3895224,NM_000218.3(KCNQ1):c.1039C>T (p.Leu347Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3895224,3895224,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2585218:c:t|snv,True,False +11:2768895:C:G,KCNQ1,VCV003895223,3895223,NM_000218.3(KCNQ1):c.1566C>G (p.Tyr522Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895223,3895223,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2768895:c:g|snv,True,False +11:2775970:AG:A,KCNQ1,VCV003894930,3894930,NM_000218.3(KCNQ1):c.1602del (p.Lys534fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894930,3894930,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2775970:ag:a|deletion,True,False +11:2775959:G:C,KCNQ1,VCV003894017,3894017,NM_000218.3(KCNQ1):c.1591-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894017,3894017,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2775959:g:c|snv,True,False +11:2662020:TTCGCC:T,KCNQ1,VCV003893245,3893245,NM_000218.3(KCNQ1):c.1454_1458del (p.Ser484_Phe485insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3893245,3893245,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2662020:ttcgcc:t|deletion,True,False +11:2662017:AGC:A,KCNQ1,VCV003893242,3893242,NM_000218.3(KCNQ1):c.1451_1452del (p.Ser484fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3893242,3893242,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2662017:agc:a|deletion,True,False +11:2571344:C:TT,KCNQ1,VCV003862988,3862988,NM_000218.3(KCNQ1):c.624delinsTT (p.Ser209fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3862988,3862988,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2571344:c:tt|insertion,True,False +11:2571394:C:A,KCNQ1,VCV003774956,3774956,NM_000218.3(KCNQ1):c.674C>A (p.Ser225Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3774956,3774956,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2571394:c:a|snv,True,False +11:2583446:CACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAG:C,KCNQ1,VCV003769591,3769591,NM_000218.3(KCNQ1):c.941_985del (p.Gly314_Ile328del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3769591,3769591,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583446:caccatcggctatggggacaaggtgccccagacgtgggtcgggaag:c|deletion,True,False +11:2768920:G:C,KCNQ1,VCV003726879,3726879,NM_000218.3(KCNQ1):c.1590+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3726879,3726879,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2768920:g:c|snv,True,False +11:2527959:A:C,KCNQ1,VCV003719869,3719869,NM_000218.3(KCNQ1):c.418A>C (p.Ser140Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3719869,3719869,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2527959:a:c|snv,True,False +11:2570713:G:A,KCNQ1,VCV003693769,3693769,NM_000218.3(KCNQ1):c.563G>A (p.Trp188Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3693769,3693769,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2570713:g:a|snv,True,False +11:2587651:ACT:A,KCNQ1,VCV003669101,3669101,NM_000218.3(KCNQ1):c.1213_1214del (p.Leu405fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3669101,3669101,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2587651:act:a|deletion,True,False +11:2572945:GTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTG:CAC,KCNQ1,VCV003660922,3660922,NM_000218.3(KCNQ1):c.880_921+630delinsCAC,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3660922,3660922,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572945:gtggagttcggcagctacgcagatgcgctgtggtggggggtggtaagtcggaaacttccaggcatggggacaggggcagctcaggctgaggagtgggcaggacatctgggcactggtgtcttgagacttcgggccttggcaggggcttctcacctgcacgctcacaggcctctgtccacaaacctgtgcttggagccgctggcacaggtccccacgctcagtgttgagtcctttggcatcaccatcttgaagttctgaatggtctcatccttgaacttgagatttgagagggaaatcggaggggtcactggagcgtgtgttgggggcttagcggtttcggctcccccatggctctgcctcccgccatcgtcctaggttgcccattccctgcctccaccgtggccctcaccctggcagggcccaaggagagcggcgtcagatgcatacctcgcgtgtctctgagggtccacacaggccctgtaagtgcccctgtccccaaggagccagacatgagacagcaaacaggaaagaccatgatggctcaagagaccccagcagagatcagagagcccccgtgtttccagtggatgctgggcctgcaagttctggagccgggcctgggcagtggcgacataggtgcagctgggcctagggaagcagggacccggcctg:cac|deletion,True,False +11:2768890:C:T,KCNQ1,VCV003659274,3659274,NM_000218.3(KCNQ1):c.1561C>T (p.Gln521Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3659274,3659274,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2768890:c:t|snv,True,False +11:2528014:G:A,KCNQ1,VCV003659247,3659247,NM_000218.3(KCNQ1):c.473G>A (p.Trp158Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3659247,3659247,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2528014:g:a|snv,True,False +11:2445162:G:GGC,KCNQ1,VCV003648787,3648787,NM_000218.3(KCNQ1):c.67_68dup (p.Arg24fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3648787,3648787,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445162:g:ggc|duplication,True,False +11:2572032:A:C,KCNQ1,VCV003641656,3641656,NM_000218.3(KCNQ1):c.703A>C (p.Ile235Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3641656,3641656,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572032:a:c|snv,True,False +11:2572026:C:A,KCNQ1,VCV003603667,3603667,NM_000218.3(KCNQ1):c.697C>A (p.Leu233Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3603667,3603667,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572026:c:a|snv,True,False +11:2570626:A:G,KCNQ1,VCV003601179,3601179,NM_000218.3(KCNQ1):c.478-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3601179,3601179,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2570626:a:g|snv,True,False +11:2776985:G:T,KCNQ1,VCV003392793,3392793,NM_000218.3(KCNQ1):c.1686-1G>T,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3392793,3392793,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2776985:g:t|snv,True,False +11:2661995:GC:G,KCNQ1,VCV003383201,3383201,NM_000218.3(KCNQ1):c.1432del (p.His478fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3383201,3383201,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2661995:gc:g|deletion,True,False +11:2588714:TAAAG:T,KCNQ1,VCV003383071,3383071,NM_000218.3(KCNQ1):c.1257_1260del (p.Lys421fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3383071,3383071,"Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3","Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3","Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3",variation_id,,,,representation_repairable,0.45,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,11:2588714:taaag:t|deletion,True,False +11:2572073:G:A,KCNQ1,VCV003382790,3382790,NM_000218.3(KCNQ1):c.744G>A (p.Trp248Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3382790,3382790,"Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3","Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3","Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3",variation_id,,,,locus_or_regional_context,0.25,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,11:2572073:g:a|snv,True,False +11:2583540:C:G,KCNQ1,VCV003376696,3376696,NM_000218.3(KCNQ1):c.1027C>G (p.Pro343Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376696,3376696,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583540:c:g|snv,True,False +11:2585209:CA:C,KCNQ1,VCV003376665,3376665,NM_000218.3(KCNQ1):c.1033-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3376665,3376665,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2585209:ca:c|deletion,True,False +11:2445419:G:C,KCNQ1,VCV003376650,3376650,NM_000218.3(KCNQ1):c.321G>C (p.Gln107His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376650,3376650,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445419:g:c|snv,True,False +11:2585213:G:T,KCNQ1,VCV003338779,3338779,NM_000218.3(KCNQ1):c.1034G>T (p.Gly345Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3338779,3338779,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2585213:g:t|snv,True,False +11:2570658:G:A,KCNQ1,VCV003338330,3338330,NM_000218.3(KCNQ1):c.508G>A (p.Glu170Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3338330,3338330,Atrial fibrillation,Atrial fibrillation,Atrial fibrillation,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2570658:g:a|snv,True,False +11:2445320:AG:A,KCNQ1,VCV003337204,3337204,NM_000218.3(KCNQ1):c.223del (p.Val75fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3337204,3337204,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445320:ag:a|deletion,True,False +11:2445305:GC:G,KCNQ1,VCV003335922,3335922,NM_000218.3(KCNQ1):c.210del (p.Ala71fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3335922,3335922,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445305:gc:g|deletion,True,False +11:2778014:C:A,KCNQ1,VCV003235934,3235934,NM_000218.3(KCNQ1):c.1771C>A (p.Arg591Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3235934,3235934,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2778014:c:a|snv,True,False +11:2847776:CTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGCAGCGGCGGCCCCCCCAGAGAGGGCGGGGCCCACATCACCCAGCCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCCACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGAGGAGGGGATGGGGCTGGGGGATGGGCCTGAGTGAGAGGGGAGGCCAAGAGTGGCCCCACCTGGCCCTCTCTGAAGGAGGCCACCTCCTAAAAGGCCCAGAGAGAAGAGCCCCACTCTCAGAGGCCCCAATACCCCA:C,KCNQ1,VCV003235891,3235891,NM_000218.3(KCNQ1):c.1812_*143del (p.Gln604_Ter677delinsXaa),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3235891,3235891,"Atrial fibrillation, familial, 3;Short QT syndrome type 2;Long QT syndrome 1","Atrial fibrillation, familial, 3;Short QT syndrome type 2;Long QT syndrome 1","Atrial fibrillation, familial, 3;Short QT syndrome type 2;Long QT syndrome 1",variation_id,,,,representation_repairable,0.45,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,11:2847776:ctggaccagaggctggcactcatcaccgacatgcttcaccagctgctctccttgcacggtggcagcacccccggcagcggcggcccccccagagagggcggggcccacatcacccagccctgcggcagtggcggctccgtcgaccctgagctcttcctgcccagcaacaccctgcccacctacgagcagctgaccgtgcccaggaggggccccgatgaggggtcctgaggaggggatggggctgggggatgggcctgagtgagaggggaggccaagagtggccccacctggccctctctgaaggaggccacctcctaaaaggcccagagagaagagccccactctcagaggccccaatacccca:c|deletion,True,False +11:2777033:G:T,KCNQ1,VCV003075923,3075923,NM_000218.3(KCNQ1):c.1732+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3075923,3075923,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2777033:g:t|snv,True,False +11:2572976:G:T,KCNQ1,VCV002982293,2982293,NM_000218.3(KCNQ1):c.911G>T (p.Trp304Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2982293,2982293,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572976:g:t|snv,True,False +11:2587564:CCTCAGACCGCATGGAGGTGCTATGCTG:C,KCNQ1,VCV002971269,2971269,NM_000218.3(KCNQ1):c.1129-4_1151del,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2971269,2971269,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2587564:cctcagaccgcatggaggtgctatgctg:c|deletion,True,False +11:2572980:G:C,KCNQ1,VCV002837284,2837284,NM_000218.3(KCNQ1):c.915G>C (p.Trp305Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2837284,2837284,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572980:g:c|snv,True,False +11:2572047:CACGTCG:C,KCNQ1,VCV002836375,2836375,NM_000218.3(KCNQ1):c.721_726del (p.Val241_Asp242del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2836375,2836375,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572047:cacgtcg:c|deletion,True,False +11:2570735:G:GA,KCNQ1,VCV002828480,2828480,NM_000218.3(KCNQ1):c.587dup (p.Pro197fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2828480,2828480,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2570735:g:ga|duplication,True,False +11:2571383:GT:G,KCNQ1,VCV002814371,2814371,NM_000218.3(KCNQ1):c.666del (p.Phe222fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2814371,2814371,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2571383:gt:g|deletion,True,False +11:2585274:CC:AT,KCNQ1,VCV002811762,2811762,NM_000218.3(KCNQ1):c.1095_1096delinsAT (p.Asn365_Arg366delinsLysTrp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2811762,2811762,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2585274:cc:at|mnv_or_substitution,True,False +11:2585215:AT:A,KCNQ1,VCV002807267,2807267,NM_000218.3(KCNQ1):c.1038del (p.Gly348fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2807267,2807267,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2585215:at:a|deletion,True,False +11:2777020:AT:A,KCNQ1,VCV002773484,2773484,NM_000218.3(KCNQ1):c.1721del (p.Ile574fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2773484,2773484,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,11:2777020:at:a|deletion,True,False +11:2588712:G:A,KCNQ1,VCV002773474,2773474,NM_000218.3(KCNQ1):c.1252-1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2773474,2773474,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,11:2588712:g:a|snv,True,False +11:2776003:A:T,KCNQ1,VCV002770494,2770494,NM_000218.3(KCNQ1):c.1634A>T (p.Tyr545Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2770494,2770494,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2776003:a:t|snv,True,False +11:2445486:T:G,KCNQ1,VCV002748943,2748943,NM_000218.3(KCNQ1):c.386+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2748943,2748943,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445486:t:g|snv,True,False +11:2570677:G:C,KCNQ1,VCV002747611,2747611,NM_000218.3(KCNQ1):c.527G>C (p.Trp176Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2747611,2747611,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2570677:g:c|snv,True,False +11:2662041:GA:G,KCNQ1,VCV002725492,2725492,NM_000218.3(KCNQ1):c.1476del (p.Glu494fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2725492,2725492,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2662041:ga:g|deletion,True,False +11:2528019:G:C,KCNQ1,VCV002724418,2724418,NM_000218.3(KCNQ1):c.477+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2724418,2724418,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2528019:g:c|snv,True,False +11:2572854:AAC:A,KCNQ1,VCV002723186,2723186,NM_000218.3(KCNQ1):c.790_791del (p.Thr264fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2723186,2723186,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572854:aac:a|deletion,True,False +11:2572978:T:A,KCNQ1,VCV002719407,2719407,NM_000218.3(KCNQ1):c.913T>A (p.Trp305Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2719407,2719407,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572978:t:a|snv,True,False +11:2768884:CGCAT:C,KCNQ1,VCV002708573,2708573,NM_000218.3(KCNQ1):c.1559_1562del (p.Met520fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2708573,2708573,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2768884:cgcat:c|deletion,True,False +11:2585300:TC:T,KCNQ1,VCV002692770,2692770,NM_000218.3(KCNQ1):c.1122del (p.Ile375fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2692770,2692770,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2585300:tc:t|deletion,True,False +11:2778039:T:C,KCNQ1,VCV002587406,2587406,NM_000218.3(KCNQ1):c.1794+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2587406,2587406,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2778039:t:c|snv,True,False +11:2572976:G:A,KCNQ1,VCV002587403,2587403,NM_000218.3(KCNQ1):c.911G>A (p.Trp304Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2587403,2587403,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572976:g:a|snv,True,False +11:2445453:G:GC,KCNQ1,VCV002577445,2577445,NM_000218.3(KCNQ1):c.355_356insC (p.Gly119fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2577445,2577445,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445453:g:gc|insertion,True,False +11:2587660:T:TG,KCNQ1,VCV002575074,2575074,NM_000218.3(KCNQ1):c.1219_1220insG (p.Ser407fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575074,2575074,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2587660:t:tg|insertion,True,False +11:2585246:AGCAGAAGCAGAG:A,KCNQ1,VCV002575071,2575071,NM_000218.3(KCNQ1):c.1077_1088del (p.Gln359_Lys362del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575071,2575071,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2585246:agcagaagcagag:a|deletion,True,False +11:2527927:G:C,KCNQ1,VCV002575070,2575070,NM_000218.3(KCNQ1):c.387-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575070,2575070,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2527927:g:c|snv,True,False +11:2662053:CT:C,KCNQ1,VCV002575068,2575068,NM_000218.3(KCNQ1):c.1487del (p.Leu496fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575068,2575068,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2662053:ct:c|deletion,True,False +11:2527938:GT:G,KCNQ1,VCV002575067,2575067,NM_000218.3(KCNQ1):c.398del (p.Val133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2575067,2575067,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2527938:gt:g|deletion,True,False +11:2778038:G:A,KCNQ1,VCV002575066,2575066,NM_000218.3(KCNQ1):c.1794+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2575066,2575066,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2778038:g:a|snv,True,False +11:2572850:T:A,KCNQ1,VCV002575065,2575065,NM_000218.3(KCNQ1):c.785T>A (p.Leu262Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575065,2575065,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572850:t:a|snv,True,False +11:2583533:T:G,KCNQ1,VCV002575064,2575064,NM_000218.3(KCNQ1):c.1020T>G (p.Phe340Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575064,2575064,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583533:t:g|snv,True,False +11:2572975:T:G,KCNQ1,VCV002575063,2575063,NM_000218.3(KCNQ1):c.910T>G (p.Trp304Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575063,2575063,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572975:t:g|snv,True,False +11:2572852:AT:A,KCNQ1,VCV002574107,2574107,NM_000218.3(KCNQ1):c.788del (p.Ile263fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2574107,2574107,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572852:at:a|deletion,True,False +11:2585297:C:A,KCNQ1,VCV002574106,2574106,NM_000218.3(KCNQ1):c.1118C>A (p.Ser373Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2574106,2574106,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2585297:c:a|snv,True,False +11:2572882:C:A,KCNQ1,VCV002574013,2574013,NM_000218.3(KCNQ1):c.817C>A (p.Leu273Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2574013,2574013,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572882:c:a|snv,True,False +11:2768908:A:G,KCNQ1,VCV002574002,2574002,NM_000218.3(KCNQ1):c.1579A>G (p.Lys527Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2574002,2574002,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2768908:a:g|snv,True,False +11:2572040:GATGCTAC:G,KCNQ1,VCV002567545,2567545,NM_000218.3(KCNQ1):c.713_719del (p.Met238fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2567545,2567545,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572040:gatgctac:g|deletion,True,False +11:2778024:G:T,KCNQ1,VCV002502702,2502702,NM_000218.3(KCNQ1):c.1781G>T (p.Arg594Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2502702,2502702,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2778024:g:t|snv,True,False +11:2445344:GC:G,KCNQ1,VCV002502315,2502315,NM_000218.3(KCNQ1):c.248del (p.Pro83fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2502315,2502315,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445344:gc:g|deletion,True,False +11:2572862:T:A,KCNQ1,VCV002498480,2498480,NM_000218.3(KCNQ1):c.797T>A (p.Leu266Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2498480,2498480,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572862:t:a|snv,True,False +11:2583443:CA:C,KCNQ1,VCV002453279,2453279,NM_000218.3(KCNQ1):c.931del (p.Thr311fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2453279,2453279,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583443:ca:c|deletion,True,False +11:2570685:G:C,KCNQ1,VCV002446426,2446426,NM_000218.3(KCNQ1):c.535G>C (p.Gly179Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2446426,2446426,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2570685:g:c|snv,True,False +11:2583546:G:T,KCNQ1,VCV002136962,2136962,NM_000218.3(KCNQ1):c.1032+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2136962,2136962,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583546:g:t|snv,True,False +11:2572104:C:G,KCNQ1,VCV002136957,2136957,NM_000218.3(KCNQ1):c.775C>G (p.Arg259Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2136957,2136957,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572104:c:g|snv,True,False +11:2583460:G:C,KCNQ1,VCV002130527,2130527,NM_000218.3(KCNQ1):c.947G>C (p.Gly316Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2130527,2130527,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583460:g:c|snv,True,False +11:2768911:A:AAT,KCNQ1,VCV002129901,2129901,NM_000218.3(KCNQ1):c.1583_1584insTA (p.Lys528fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2129901,2129901,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2768911:a:aat|insertion,True,False +11:2583470:GC:TT,KCNQ1,VCV002129108,2129108,NM_000218.3(KCNQ1):c.957_958delinsTT (p.Pro320Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2129108,2129108,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583470:gc:tt|mnv_or_substitution,True,False +11:2570701:ACGTGGGCCTCTGGGGGCGGCTG:A,KCNQ1,VCV002102490,2102490,NM_000218.3(KCNQ1):c.554_575del (p.Val185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2102490,2102490,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2570701:acgtgggcctctgggggcggctg:a|deletion,True,False +11:2445430:A:C,KCNQ1,VCV002035007,2035007,NM_000218.3(KCNQ1):c.332A>C (p.Tyr111Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2035007,2035007,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445430:a:c|snv,True,False +11:2588739:C:CA,KCNQ1,VCV002028871,2028871,NM_000218.3(KCNQ1):c.1281dup (p.Asp428fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2028871,2028871,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2588739:c:ca|duplication,True,False +11:2776027:TG:T,KCNQ1,VCV002023188,2023188,NM_000218.3(KCNQ1):c.1660del (p.Val554fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2023188,2023188,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2776027:tg:t|deletion,True,False +11:2587681:A:T,KCNQ1,VCV002017757,2017757,NM_000218.3(KCNQ1):c.1240A>T (p.Lys414Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2017757,2017757,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2587681:a:t|snv,True,False +11:2583546:G:C,KCNQ1,VCV002017498,2017498,NM_000218.3(KCNQ1):c.1032+1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2017498,2017498,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583546:g:c|snv,True,False +11:2571346:C:CA,KCNQ1,VCV002004187,2004187,NM_000218.3(KCNQ1):c.626_627insA (p.Met210fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2004187,2004187,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2571346:c:ca|insertion,True,False +11:2768888:T:A,KCNQ1,VCV002000331,2000331,NM_000218.3(KCNQ1):c.1559T>A (p.Met520Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2000331,2000331,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2768888:t:a|snv,True,False +11:2587665:CA:C,KCNQ1,VCV001879152,1879152,NM_000218.3(KCNQ1):c.1225del (p.Ser409fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1879152,1879152,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2587665:ca:c|deletion,True,False +11:2571364:TG:T,KCNQ1,VCV001802109,1802109,NM_000218.3(KCNQ1):c.647del (p.Gly216fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1802109,1802109,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2571364:tg:t|deletion,True,False +11:2445203:C:CT,KCNQ1,VCV001786030,1786030,NM_000218.3(KCNQ1):c.107dup (p.Ser37fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1786030,1786030,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445203:c:ct|duplication,True,False +11:2776986:G:C,KCNQ1,VCV001778018,1778018,NM_000218.3(KCNQ1):c.1686G>C (p.Arg562Ser),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1778018,1778018,"Cardiovascular phenotype|Long QT syndrome|Atrial fibrillation, familial, 3","Cardiovascular phenotype|Long QT syndrome|Atrial fibrillation, familial, 3","Cardiovascular phenotype|Long QT syndrome|Atrial fibrillation, familial, 3",variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,11:2776986:g:c|snv,True,False +11:2585210:A:AGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCT,KCNQ1,VCV001771701,1771701,NM_000218.3(KCNQ1):c.1033-1_1117dup,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1771701,1771701,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,11:2585210:a:aggggattcttggctcggggtttgccctgaaggtgcagcagaagcagaggcagaagcacttcaaccggcagatcccggcggcagcct|duplication,True,False +11:2588779:G:GTCCCCCATATCACGTGCGA,KCNQ1,VCV001769838,1769838,NM_000218.3(KCNQ1):c.1319_1337dup (p.Glu449fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1769838,1769838,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2588779:g:gtcccccatatcacgtgcga|duplication,True,False +11:2583481:G:A,KCNQ1,VCV001723453,1723453,NM_000218.3(KCNQ1):c.968G>A (p.Trp323Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1723453,1723453,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583481:g:a|snv,True,False +11:2572886:T:A,KCNQ1,VCV001711271,1711271,NM_000218.3(KCNQ1):c.821T>A (p.Ile274Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1711271,1711271,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572886:t:a|snv,True,False +11:2570663:C:CGTGGTCCGCCT,KCNQ1,VCV001709048,1709048,NM_000218.3(KCNQ1):c.514_524dup (p.Gly179fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1709048,1709048,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2570663:c:cgtggtccgcct|duplication,True,False +11:2662026:G:T,KCNQ1,VCV001708065,1708065,NM_000218.3(KCNQ1):c.1459G>T (p.Glu487Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1708065,1708065,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2662026:g:t|snv,True,False +11:2445485:G:T,KCNQ1,VCV001522663,1522663,NM_000218.3(KCNQ1):c.386+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1522663,1522663,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445485:g:t|snv,True,False +11:2661959:A:G,KCNQ1,VCV001500718,1500718,NM_000218.3(KCNQ1):c.1394-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1500718,1500718,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2661959:a:g|snv,True,False +11:2585309:T:A,KCNQ1,VCV001500707,1500707,NM_000218.3(KCNQ1):c.1128+2T>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1500707,1500707,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2585309:t:a|snv,True,False +11:2571324:G:A,KCNQ1,VCV001493047,1493047,NM_000218.3(KCNQ1):c.605-1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1493047,1493047,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2571324:g:a|snv,True,False +11:2583531:T:C,KCNQ1,VCV001488375,1488375,NM_000218.3(KCNQ1):c.1018T>C (p.Phe340Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1488375,1488375,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583531:t:c|snv,True,False +11:2445400:T:A,KCNQ1,VCV001457098,1457098,NM_000218.3(KCNQ1):c.302T>A (p.Leu101Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1457098,1457098,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445400:t:a|snv,True,False +11:2587588:G:GC,KCNQ1,VCV001454915,1454915,NM_000218.3(KCNQ1):c.1148dup (p.Ala384fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1454915,1454915,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2587588:g:gc|duplication,True,False +11:2572899:C:CT,KCNQ1,VCV001454509,1454509,NM_000218.3(KCNQ1):c.837dup (p.Val280fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1454509,1454509,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572899:c:ct|duplication,True,False +11:2445457:GGAAATGCTTC:G,KCNQ1,VCV001454382,1454382,NM_000218.3(KCNQ1):c.361_370del (p.Lys121fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1454382,1454382,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445457:ggaaatgcttc:g|deletion,True,False +11:2572099:T:TCCACC,KCNQ1,VCV001452627,1452627,NM_000218.3(KCNQ1):c.771_775dup (p.Arg259fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1452627,1452627,"Long QT syndrome|Short QT syndrome type 2;Long QT syndrome 1;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1","Long QT syndrome|Short QT syndrome type 2;Long QT syndrome 1;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1","Long QT syndrome|Short QT syndrome type 2;Long QT syndrome 1;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1",variation_id,,,,locus_or_regional_context,0.25,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,11:2572099:t:tccacc|duplication,True,False +11:2572975:T:TGGTG,KCNQ1,VCV001451451,1451451,NM_000218.3(KCNQ1):c.913_916dup (p.Gly306fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1451451,1451451,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572975:t:tggtg|duplication,True,False +11:2583486:G:T,KCNQ1,VCV001449449,1449449,NM_000218.3(KCNQ1):c.973G>T (p.Gly325Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1449449,1449449,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583486:g:t|snv,True,False +11:2587647:CCACACTCTGCTGT:C,KCNQ1,VCV001445000,1445000,NM_000218.3(KCNQ1):c.1210_1222del (p.Thr404fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1445000,1445000,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2587647:ccacactctgctgt:c|deletion,True,False +11:2583456:T:A,KCNQ1,VCV001439097,1439097,NM_000218.3(KCNQ1):c.943T>A (p.Tyr315Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1439097,1439097,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583456:t:a|snv,True,False +11:2571394:C:G,KCNQ1,VCV001438413,1438413,NM_000218.3(KCNQ1):c.674C>G (p.Ser225Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1438413,1438413,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2571394:c:g|snv,True,False +11:2572096:TCATC:T,KCNQ1,VCV001437397,1437397,NM_000218.3(KCNQ1):c.770_773del (p.Ile257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1437397,1437397,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572096:tcatc:t|deletion,True,False +11:2588814:GC:G,KCNQ1,VCV001426804,1426804,NM_000218.3(KCNQ1):c.1354del (p.Arg452fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1426804,1426804,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,11:2588814:gc:g|deletion,True,False +11:2583446:C:CACCATCGG,KCNQ1,VCV001416082,1416082,NM_000218.3(KCNQ1):c.934_941dup (p.Tyr315fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1416082,1416082,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583446:c:caccatcgg|duplication,True,False +11:2572029:C:T,KCNQ1,VCV001414164,1414164,NM_000218.3(KCNQ1):c.700C>T (p.Gln234Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1414164,1414164,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,11:2572029:c:t|snv,True,False +11:2583472:C:T,KCNQ1,VCV001411474,1411474,NM_000218.3(KCNQ1):c.959C>T (p.Pro320Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1411474,1411474,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583472:c:t|snv,True,False +11:2572987:G:A,KCNQ1,VCV001384067,1384067,NM_000218.3(KCNQ1):c.921+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1384067,1384067,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572987:g:a|snv,True,False +11:2528020:T:C,KCNQ1,VCV001350731,1350731,NM_000218.3(KCNQ1):c.477+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1350731,1350731,Long QT syndrome|Familial prostate cancer,Long QT syndrome|Familial prostate cancer,Long QT syndrome|Familial prostate cancer,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2528020:t:c|snv,True,False +11:2570625:CAGG:C,KCNQ1,VCV001343361,1343361,NM_000218.2(KCNQ1):c.478_480del,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1343361,1343361,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2570625:cagg:c|deletion,True,False +11:2588712:G:C,KCNQ1,VCV001342782,1342782,NM_000218.3(KCNQ1):c.1252-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,1342782,1342782,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,unanchored,0.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2588712:g:c|snv,True,False +11:2571323:A:G,KCNQ1,VCV001342708,1342708,NM_000218.3(KCNQ1):c.605-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1342708,1342708,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2571323:a:g|snv,True,False +11:2768921:T:A,KCNQ1,VCV001331817,1331817,NM_000218.3(KCNQ1):c.1590+2T>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1331817,1331817,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2768921:t:a|snv,True,False +11:2572976:G:C,KCNQ1,VCV001212402,1212402,NM_000218.3(KCNQ1):c.911G>C (p.Trp304Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1212402,1212402,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572976:g:c|snv,True,False +11:2585276:G:T,KCNQ1,VCV001185948,1185948,NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1185948,1185948,Long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia,Long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia,Long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,11:2585276:g:t|snv,True,False +11:2587690:G:GT,KCNQ1,VCV001179766,1179766,NM_000218.3(KCNQ1):c.1250dup (p.Val418fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1179766,1179766,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2587690:g:gt|duplication,True,False +11:2778034:CAA:C,KCNQ1,VCV001171410,1171410,NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1171410,1171410,Cardiac arrhythmia|Cardiovascular phenotype|Long QT syndrome,Cardiac arrhythmia|Cardiovascular phenotype|Long QT syndrome,Cardiac arrhythmia|Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,11:2778034:caa:c|deletion,True,False +11:2587622:TC:T,KCNQ1,VCV001076090,1076090,NM_000218.3(KCNQ1):c.1182del (p.Tyr395fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1076090,1076090,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2587622:tc:t|deletion,True,False +11:2445482:CG:C,KCNQ1,VCV001075209,1075209,NM_000218.3(KCNQ1):c.385del (p.Val129fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1075209,1075209,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445482:cg:c|deletion,True,False +11:2445457:G:A,KCNQ1,VCV001074347,1074347,NM_000218.3(KCNQ1):c.359G>A (p.Trp120Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1074347,1074347,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445457:g:a|snv,True,False +11:2445251:CGCGCCCATCGCGCCCG:C,KCNQ1,VCV001072801,1072801,NM_000218.3(KCNQ1):c.160_175del (p.Ile54fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1072801,1072801,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445251:cgcgcccatcgcgcccg:c|deletion,True,False +11:2777030:C:G,KCNQ1,VCV001069232,1069232,NM_000218.3(KCNQ1):c.1730C>G (p.Ser577Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1069232,1069232,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2777030:c:g|snv,True,False +11:2588711:A:C,KCNQ1,VCV001067022,1067022,NM_000218.3(KCNQ1):c.1252-2A>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1067022,1067022,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2588711:a:c|snv,True,False +11:2661960:G:C,KCNQ1,VCV001066272,1066272,NM_000218.3(KCNQ1):c.1394-1G>C,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1066272,1066272,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2661960:g:c|snv,True,False +11:2583463:A:C,KCNQ1,VCV001056776,1056776,NM_000218.3(KCNQ1):c.950A>C (p.Asp317Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1056776,1056776,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583463:a:c|snv,True,False +11:2585291:C:A,KCNQ1,VCV001038475,1038475,NM_000218.3(KCNQ1):c.1112C>A (p.Ala371Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1038475,1038475,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2585291:c:a|snv,True,False +11:2778003:C:G,KCNQ1,VCV001037124,1037124,NM_000218.3(KCNQ1):c.1760C>G (p.Thr587Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1037124,1037124,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2778003:c:g|snv,True,False +11:2768888:T:C,KCNQ1,VCV001018501,1018501,NM_000218.3(KCNQ1):c.1559T>C (p.Met520Thr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1018501,1018501,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2768888:t:c|snv,True,False +11:2572081:T:A,KCNQ1,VCV001004846,1004846,NM_000218.3(KCNQ1):c.752T>A (p.Leu251Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1004846,1004846,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572081:t:a|snv,True,False +11:2587654:CTG:C,KCNQ1,VCV000992394,992394,NM_000218.3(KCNQ1):c.1214_1215del (p.Leu405fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,992394,992394,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2587654:ctg:c|deletion,True,False +11:2776977:T:C,KCNQ1,VCV000983505,983505,NM_000218.3(KCNQ1):c.1686-9T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,983505,983505,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2776977:t:c|snv,True,False +11:2588738:AC:A,KCNQ1,VCV000983047,983047,NM_000218.3(KCNQ1):c.1278del (p.Asp426fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,983047,983047,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2588738:ac:a|deletion,True,False +11:2570701:AC:A,KCNQ1,VCV000983022,983022,NM_000218.3(KCNQ1):c.552del (p.Lys183_Tyr184insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,983022,983022,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2570701:ac:a|deletion,True,False +11:2699443:GCACTGAGGAGCCGCCGGGAGAGTGCCGCGCTGAGGAGCCCCCGGGGAGAGTGCCGCGCTGAGGAGCCCCCAGGAGAGTGCCGCGCTGAGGAGGCCCAGGGAGGACCGCGCGGAGGAGAACCATGCTGAGGAGCCCCCGGGGAGAACAGAACCGCGGCGAGAGGCCCCCGGAGAGAACCGCGCCGAAGAACCCCCGGGGACAACCGCGCCGAAGAACCCCCGGGGAGAACCGCGCCGAAAAGCCCCGGGTGCCCCGAGGAGAACGGCGCCGAGGAGTCCCCGGGGAGAACTGCGCCGAGGAGCCCCCAGAAGAGCGCCGCGCTGAGGAGCCCCGAGGAGAACCGCGCCGAGGGGCGCGCCGGGGAGAACCACGATGACTGACGCACCGAGGAGGACCGCGCTGAGGGGCGCACCGGGAGAATCGTGCTGAGGAGCCCCGGGGAGGACCACGCTGAGAGGCACCCCGGCAGAATCGCGCTGAGGGGCGCCCTGGCAGGATCTTGCTGAGGAGCTCCCTGGAGGTCCGTGCTGAGGCGACGCGGCGACCGTTCTGCCTGGAGACTGCGGCAGCGCTCCGACTGCCCCCGCCGCTGCCGACGTGGCGACCGCCCCCCACCTGCTGATTGGGCGGCAGCAGGGGAAGGCTTGCGGCGGGCTGCTGCACGGATTGGCTGGGTGCGGAAAGTGATGTGCCGTGTCCTGTCATTGGCCGAAAGAGTCTCGTTTTGATGCCACCCGGGCTCAGATTGGCCCAGCGGGTCCAGCGCCGCATGAGGCACTGGCTGGGTGTGAGGTGGCGCGAGCCGCCGCCCTCCCTGCCCCCACCCGTCGTCCCTGAGCACCACCGGGGGCCGGGGCCAGCGCCAGCCTCAGCGTTGGCATCGCCGGGGTGAGCTGGAGACACGGGCCAGTTCTCTGCGTGATGTGTTCACCACCCCGGGGTGACCGCGTGAGGACAGCGGCCGCACCCCGACACTGCTGTGGGCCCTCGGTGTGGAGGCCTGTGGGCGTCCAGGCCACGCCCGAGACCAGCCCCTCCGCCGGCGCCGCTGCAGCGACCCTCGAACCCGGGCAAGGTCTCCACCGCCGTGGCACCGGGTGCGGGAGGCGTTTTCCCCCCTCCCAGCGGGTCCATGCAGGGGATCGGGATGTTCTGAAGCCCCCACTGCTGTGCCTGGAACACCCGTGTCTGCCGCTCACCCCTGAGGACTTGGGACCTCAGGGGGTGAGTGGCAGGGGTGGCCGGGACATGCCAGGCCACCCACCTGGCAAAGGGCAGCGCCGAGGGCGCCCCGCGCCTGCCAGCGCCCGGCCGGGCCCGCCCTGCCCACCTCCCATCCCCCATCCGGGCGTGACACTTGACCGCGTCTGCCGGCCCCTCC:G,KCNQ1,VCV000977320,977320,NM_000218.3(KCNQ1):c.1514+37364_1514+38744del,Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,977320,977320,Silver-Russell syndrome 1,Silver-Russell syndrome 1,Silver-Russell syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2699443:gcactgaggagccgccgggagagtgccgcgctgaggagcccccggggagagtgccgcgctgaggagcccccaggagagtgccgcgctgaggaggcccagggaggaccgcgcggaggagaaccatgctgaggagcccccggggagaacagaaccgcggcgagaggcccccggagagaaccgcgccgaagaacccccggggacaaccgcgccgaagaacccccggggagaaccgcgccgaaaagccccgggtgccccgaggagaacggcgccgaggagtccccggggagaactgcgccgaggagcccccagaagagcgccgcgctgaggagccccgaggagaaccgcgccgaggggcgcgccggggagaaccacgatgactgacgcaccgaggaggaccgcgctgaggggcgcaccgggagaatcgtgctgaggagccccggggaggaccacgctgagaggcaccccggcagaatcgcgctgaggggcgccctggcaggatcttgctgaggagctccctggaggtccgtgctgaggcgacgcggcgaccgttctgcctggagactgcggcagcgctccgactgcccccgccgctgccgacgtggcgaccgccccccacctgctgattgggcggcagcaggggaaggcttgcggcgggctgctgcacggattggctgggtgcggaaagtgatgtgccgtgtcctgtcattggccgaaagagtctcgttttgatgccacccgggctcagattggcccagcgggtccagcgccgcatgaggcactggctgggtgtgaggtggcgcgagccgccgccctccctgcccccacccgtcgtccctgagcaccaccgggggccggggccagcgccagcctcagcgttggcatcgccggggtgagctggagacacgggccagttctctgcgtgatgtgttcaccaccccggggtgaccgcgtgaggacagcggccgcaccccgacactgctgtgggccctcggtgtggaggcctgtgggcgtccaggccacgcccgagaccagcccctccgccggcgccgctgcagcgaccctcgaacccgggcaaggtctccaccgccgtggcaccgggtgcgggaggcgttttcccccctcccagcgggtccatgcaggggatcgggatgttctgaagcccccactgctgtgcctggaacacccgtgtctgccgctcacccctgaggacttgggacctcagggggtgagtggcaggggtggccgggacatgccaggccacccacctggcaaagggcagcgccgagggcgccccgcgcctgccagcgcccggccgggcccgccctgcccacctcccatcccccatccgggcgtgacacttgaccgcgtctgccggcccctcc:g|deletion,True,False +11:2583544:CGGTAGGTGCCCCGTGGGTGCGTTTTCCCTGGCTCCTTGGACAGCTGGGGTCCTGGGGTGGCTGCACGCCCCTCCCTGTGAGCAGACCCACTTACGTTCAGAACCAAGAGGGTGCTTCCCTTCTAGAAGGTGCTATACTCCAGAGCCCCACCTGCCCTCCCTGGGGCCCTGGATGCAGACTTCCCGTTTGCAGTCCCCACTGGGGTCCTTGCAGGCAGTGTGGGAGGCAGCCTGGAGTGGCTGTGCATGGGCGCAGTGTGGGGCAGGCCTGCTCACTCAGCCCTGGGTGGGTGGGCAATGCTGCTACCACGCCCCATGGAGGCAGAATCTTGTGCCTGGAGAGGGCACTTCCACGCTGTGGCTGGGGGGGTTTTGTTCCATGTCCTTTCCAGAAACCACAGATTGTAAGGTGATGTGTCTAGTTCACAATGCCTGTATGTGGGTGTGTGTGTGTGTGTTATGTGCGTATGTGCATAATATGTGTTTGTGTTGTGTGTGTATAATTTTATGTTACCTGTATACTATGGGTATGTGTATATGTATCACATGGGTGTGTATGTACTGTATGTGTGCGTGCATACTGTGTATACATATTGTATGTGCATATGTTGTATTTAGTATGTGTGCTGTGTTGTGTGCACATGTATGCATTATACATGTATATCAGTATGTTTGCATATGTGTATTTATGTATCTGTGTCACAGGTATGTATCCTATACATCTATGTGCGTATATGTGTGTGCACATGACATGTAGACATGTGTTAGTATGTGCTTGTGTTAGTGTTTGTGTGTTAGTGTGGGTTAGTGTATGTTTTAGTGTATGTTAGTGTGTTTGTGTGTTAGTGTGTGGGTTTGTGTTTGTGTTTCTGTGTTAGTGTGTGTGTTAGTGTGCGTTAGTTTGTGTTTGTGTGTGTATGTTAGTGTATGTTAGTGTTAGTGTGTGTTAGTATGTGGGTTAGTGTGTGTGTTTGTGTGTTAGTGTGTGTGTTAGTATGTGTTTGTGTTAGTGTGTATTTGTGTGTGTTAGTGTTTGTGTGTGTTTGTGGGTTAGTGTGTGTTAGTGTGGGTTACTGTGTGTTAGTGTTTGTGTGTTAGTGTGTTTTTGTGTGTGTTAGTGTGTGGGTTAGTGTTTGTGTGTGTGTCAGTGTGTGTGTGTTAGTGTGCATATCTATTGTGTGTGTGTGTGCATCACACATGCACGTGCACCACGTGATCTCCTCTGTAGACACGGAGTTCCCTAGCTTCAGGGTGGGTCCTTTGCATCCCATCAACCGTCCTTGGGCGAGGCAGCAGCAGGGTCCTCCTCAGCTGAGGACTGCCTTCTCACTTGCGACCCCAATCCCAGTGCCCAGTATGACCCCTTCCTGGGCACATACAGATGGACCAGCCCACCTGGCCCCCAGAATGGTCCCTGGGAATGGGTTAGAGCGGCTGCAGCCCTGCCCCATGGGACTGGGCCCCTTGCTGGATAAGACCTGGGGTATAAGTTCTGCCCCCCATGCTGGCCCAGGACAGGCAGGCTGGGCCCGAGGTGGGACTTGGGGGGGCTTCCAGCACTGACCATACCTGGCCTTCCCACAACGGTGACCGGTAACCACGTCCTGAGGCTGCACCCAGCTGGCAGTGGCCTGTGTGGACGGGAGCCTCCTGTCCATTCCTTCCCAGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCTCACTCATTCAGGTGCGGTGCCTGCAAGGCCCTGGTCACTGTCATTTTGGTCACTGTTATTGTTGCATCCAGCCCTCACGGCCACCTGTCAGAACCATCATTGGCCCCTGCATCAGCTTGGCTGGCCTGTGGGGCATACTCTGCTTGTGGAAGCCTTGGCTGCTGTGGTGATGGGGTGAGCACGGGGCATTGGAGCCTGTCTTCCTCCAAAGCTGCTCCCATCAAGGGCCATGCCCTGTGGGCTGGAGAGGAGGCACGGCCGTGGCCATGCCAGGAGTGGACGTGGTTGGCTCTGAGGCTCCCTTGTGCTCCCATTCTCCCTCCCACTGCACAACAACCTGAGGGCTGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGGGCTCTGGCTCTGTCACTCCAGGCTCTCCAGGACCCACCAGAGAATGGGACTGCTCTGTTAACGTAAGCAAGGACTTGGCACAGGAGTCACTTGAGAATTGCGTCCCTGTGGGTCTCTCTTGTTGGCCACTGCAGGGCCAGGGCTGCCCTGAGGAACAGCCGCTGAGGTGCCCAGAGGGTGGGCGTTGCCGGGTTGAATGACAAGTGCCCACTGGGGATAGGGCCTCCGCCCAGTGCAGTGGCTGGGAGCACAGTGTCAGTTCCTCTGGGCACACTGGGCCTGATGTCCCCCAGGAAGGCCCAGGACCTGGGCAGCCCCCGCTGGCTGGCGTCCCCCCTGCAGTCCTCGTGAGCTCGCTGCCCCAGGCAAGGCCCAGGCTGTCAGGGGCCAGTCGCAGTCCTCCTGCACTCCTGGCTCAGCCATCGGGGGGGCTGTGTGCTCCCACCCTTAGCCTGGTTTTATGGCTTCACAGTTTCTCCTTCCTGGGAGACCATAAATCAGGCCCGTAAACCCGCCTTGGTCCCAGCATGAGCATGCTGGCCGCCCACGCCTGGCAGGGGACCACATTGGATTCCTGGTCCCACTCCCTGGGAACCACAGGTCCTTTGAAAGGGGTTCCCTCGGAAGCTGCACACACTGTGGGAGGACTGGAGTAGGGGCCCCAGGTGGCAGGTGTGCACAGGAGCAGGGCAGGGGTCATGGGGTTTGCCAGGGTTGGGGGACCACGTGGAGTGCTCAGCCTGTGTGTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGCCAGCCCTAGGGATCCTGCCTCTCCCTGCCCCCTGCTCAGCACCTGCAGGTCCTGGGCGACCCCTCTTTCTCAGCCCTTCCTCACTGTGTGGCCACTGGTTGCCCATTTCCGCATTGGTCTCCTATGCACGCTGTGTACCCTGGCACCTGGGGATGATGTGCGACCTGCCCACCTTTGCAAGTCTCTCCTTTGGCTCAAGGCTGGCTCAGGGCTGGTAAAGACCTCTGTGGTGTCCCAGCTGTGGGTAACAATTAGCCCATGAGGCAGTGAGCTGCCTGGTGCAGCAAGGGACCAAGCCAGGCTGCCTGGGCAGAGGGTCTGGGAGCTGGGACCATGTCAAGCCTGTGACTCTGAGGTCCCAGACCCTGCCACCCAGAGGGGAGGGGCCAGGCCTGGGGAACAGGGAGGGGGAGCTGTAGCTTCCATAAGGGCCCCCGCCGGGTGGCTCAGCAGGTGACAGCCTGTCCCCCTGCCCGACCTCA:C,KCNQ1,VCV000977170,977170,NM_000218.3(KCNQ1):c.1032+1_1129-1del,Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,977170,977170,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583544:cggtaggtgccccgtgggtgcgttttccctggctccttggacagctggggtcctggggtggctgcacgcccctccctgtgagcagacccacttacgttcagaaccaagagggtgcttcccttctagaaggtgctatactccagagccccacctgccctccctggggccctggatgcagacttcccgtttgcagtccccactggggtccttgcaggcagtgtgggaggcagcctggagtggctgtgcatgggcgcagtgtggggcaggcctgctcactcagccctgggtgggtgggcaatgctgctaccacgccccatggaggcagaatcttgtgcctggagagggcacttccacgctgtggctgggggggttttgttccatgtcctttccagaaaccacagattgtaaggtgatgtgtctagttcacaatgcctgtatgtgggtgtgtgtgtgtgtgttatgtgcgtatgtgcataatatgtgtttgtgttgtgtgtgtataattttatgttacctgtatactatgggtatgtgtatatgtatcacatgggtgtgtatgtactgtatgtgtgcgtgcatactgtgtatacatattgtatgtgcatatgttgtatttagtatgtgtgctgtgttgtgtgcacatgtatgcattatacatgtatatcagtatgtttgcatatgtgtatttatgtatctgtgtcacaggtatgtatcctatacatctatgtgcgtatatgtgtgtgcacatgacatgtagacatgtgttagtatgtgcttgtgttagtgtttgtgtgttagtgtgggttagtgtatgttttagtgtatgttagtgtgtttgtgtgttagtgtgtgggtttgtgtttgtgtttctgtgttagtgtgtgtgttagtgtgcgttagtttgtgtttgtgtgtgtatgttagtgtatgttagtgttagtgtgtgttagtatgtgggttagtgtgtgtgtttgtgtgttagtgtgtgtgttagtatgtgtttgtgttagtgtgtatttgtgtgtgttagtgtttgtgtgtgtttgtgggttagtgtgtgttagtgtgggttactgtgtgttagtgtttgtgtgttagtgtgtttttgtgtgtgttagtgtgtgggttagtgtttgtgtgtgtgtcagtgtgtgtgtgttagtgtgcatatctattgtgtgtgtgtgtgcatcacacatgcacgtgcaccacgtgatctcctctgtagacacggagttccctagcttcagggtgggtcctttgcatcccatcaaccgtccttgggcgaggcagcagcagggtcctcctcagctgaggactgccttctcacttgcgaccccaatcccagtgcccagtatgaccccttcctgggcacatacagatggaccagcccacctggcccccagaatggtccctgggaatgggttagagcggctgcagccctgccccatgggactgggccccttgctggataagacctggggtataagttctgccccccatgctggcccaggacaggcaggctgggcccgaggtgggacttgggggggcttccagcactgaccatacctggccttcccacaacggtgaccggtaaccacgtcctgaggctgcacccagctggcagtggcctgtgtggacgggagcctcctgtccattccttcccaggggattcttggctcggggtttgccctgaaggtgcagcagaagcagaggcagaagcacttcaaccggcagatcccggcggcagcctcactcattcaggtgcggtgcctgcaaggccctggtcactgtcattttggtcactgttattgttgcatccagccctcacggccacctgtcagaaccatcattggcccctgcatcagcttggctggcctgtggggcatactctgcttgtggaagccttggctgctgtggtgatggggtgagcacggggcattggagcctgtcttcctccaaagctgctcccatcaagggccatgccctgtgggctggagaggaggcacggccgtggccatgccaggagtggacgtggttggctctgaggctcccttgtgctcccattctccctcccactgcacaacaacctgagggctgagtctgggagtggggtggccaggtgattgtccccaagggaggtaggacccagctgtgcagttggtgccttctggagggcctggcatccctcagggctcgggaggccctggtgcctggaggtgaggactggcgatggatggcatgggcctccctctgggctcacaaggccagtgggctgggaaaggcagagccctggagcaacaggggcaggaaggttctggaggcaggtggggaggcaggcagtaccaagctctgggatgctgggctctggctctgtcactccaggctctccaggacccaccagagaatgggactgctctgttaacgtaagcaaggacttggcacaggagtcacttgagaattgcgtccctgtgggtctctcttgttggccactgcagggccagggctgccctgaggaacagccgctgaggtgcccagagggtgggcgttgccgggttgaatgacaagtgcccactggggatagggcctccgcccagtgcagtggctgggagcacagtgtcagttcctctgggcacactgggcctgatgtcccccaggaaggcccaggacctgggcagcccccgctggctggcgtcccccctgcagtcctcgtgagctcgctgccccaggcaaggcccaggctgtcaggggccagtcgcagtcctcctgcactcctggctcagccatcgggggggctgtgtgctcccacccttagcctggttttatggcttcacagtttctccttcctgggagaccataaatcaggcccgtaaacccgccttggtcccagcatgagcatgctggccgcccacgcctggcaggggaccacattggattcctggtcccactccctgggaaccacaggtcctttgaaaggggttccctcggaagctgcacacactgtgggaggactggagtaggggccccaggtggcaggtgtgcacaggagcagggcaggggtcatggggtttgccagggttgggggaccacgtggagtgctcagcctgtgtgtgtaacactcgggccttggaaggctgggcttgtgccctcgcctgcctgtccctgggtgctggatgggagtgagggctgcaggtgcccctcgccagctgctgtgtctacctggggctgtcacccaggagcccatcagtgtgggggaacattctccactcggccctctctcaggctcatgtggccagtgatgacaaggccaccaggacatgtcctcatacaaggccctgggagcccctcctgcccatctggacgctgcacaactgctcccccgccgggtcccctgccgatagtgtcccctcctcccacccttcccttgtggtgctgccatggggtctctctgaaatgctggcttcagagctgcacccatgtgccatcagaggctcccccaactgcaaggtggtataggcctctgggagagacctcacctcctgccagccctagggatcctgcctctccctgccccctgctcagcacctgcaggtcctgggcgacccctctttctcagcccttcctcactgtgtggccactggttgcccatttccgcattggtctcctatgcacgctgtgtaccctggcacctggggatgatgtgcgacctgcccacctttgcaagtctctcctttggctcaaggctggctcagggctggtaaagacctctgtggtgtcccagctgtgggtaacaattagcccatgaggcagtgagctgcctggtgcagcaagggaccaagccaggctgcctgggcagagggtctgggagctgggaccatgtcaagcctgtgactctgaggtcccagaccctgccacccagaggggaggggccaggcctggggaacagggagggggagctgtagcttccataagggcccccgccgggtggctcagcaggtgacagcctgtccccctgcccgacctca:c|deletion,True,False +11:2587646:GC:G,KCNQ1,VCV000966649,966649,NM_000218.3(KCNQ1):c.1207del (p.His403fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,966649,966649,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2587646:gc:g|deletion,True,False +11:2583477:A:C,KCNQ1,VCV000960695,960695,NM_000218.3(KCNQ1):c.964A>C (p.Thr322Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,960695,960695,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583477:a:c|snv,True,False +11:2777033:G:A,KCNQ1,VCV000956049,956049,NM_000218.3(KCNQ1):c.1732+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,956049,956049,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2777033:g:a|snv,True,False +11:2583547:T:C,KCNQ1,VCV000939724,939724,NM_000218.3(KCNQ1):c.1032+2T>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,939724,939724,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583547:t:c|snv,True,False +11:2588718:GAAAA:G,KCNQ1,VCV000930315,930315,NM_000218.3(KCNQ1):c.1262_1265del (p.Lys421fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,930315,930315,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2588718:gaaaa:g|deletion,True,False +11:2662006:T:TGAGAACCAACAGCTTCGCC,KCNQ1,VCV000926196,926196,NM_000218.3(KCNQ1):c.1443_1461dup (p.Asp488fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,926196,926196,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2662006:t:tgagaaccaacagcttcgcc|duplication,True,False +11:2588790:CA:C,KCNQ1,VCV000925351,925351,NM_000218.3(KCNQ1):c.1330del (p.Thr444fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,925351,925351,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,unanchored,0.0,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2588790:ca:c|deletion,True,False +11:2588815:CG:C,KCNQ1,VCV000922607,922607,NM_000218.3(KCNQ1):c.1356del (p.Leu453fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,922607,922607,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2588815:cg:c|deletion,True,False +11:2585222:GCTCGGGGTTTG:CA,KCNQ1,VCV000919956,919956,NM_000218.3(KCNQ1):c.1043_1054delinsCA (p.Gly348fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,919956,919956,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2585222:gctcggggtttg:ca|deletion,True,False +11:2572105:G:C,KCNQ1,VCV000869436,869436,NM_000218.3(KCNQ1):c.776G>C (p.Arg259Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,869436,869436,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572105:g:c|snv,True,False +11:2585288:C:A,KCNQ1,VCV000869435,869435,NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,869435,869435,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2585288:c:a|snv,True,False +11:2570626:AG:A,KCNQ1,VCV000869434,869434,NM_000218.2(KCNQ1):c.478_478del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,869434,869434,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2570626:ag:a|deletion,True,False +11:2768869:ATTAAGGTCAT:A,KCNQ1,VCV000869433,869433,NM_000218.3(KCNQ1):c.1542_1551del (p.Lys515fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,869433,869433,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2768869:attaaggtcat:a|deletion,True,False +11:2572874:TCCTGGG:T,KCNQ1,VCV000861314,861314,NM_000218.3(KCNQ1):c.813_818del (p.Gly272_Leu273del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,861314,861314,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572874:tcctggg:t|deletion,True,False +11:2572072:G:A,KCNQ1,VCV000855976,855976,NM_000218.3(KCNQ1):c.743G>A (p.Trp248Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,855976,855976,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572072:g:a|snv,True,False +11:2587671:CA:C,KCNQ1,VCV000844409,844409,NM_000218.3(KCNQ1):c.1233del (p.Lys411fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,844409,844409,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2587671:ca:c|deletion,True,False +11:2572107:C:T,KCNQ1,VCV000842276,842276,NM_000218.3(KCNQ1):c.778C>T (p.Gln260Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,842276,842276,Long QT syndrome|KCNQ1-related disorder,Long QT syndrome|KCNQ1-related disorder,Long QT syndrome|KCNQ1-related disorder,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572107:c:t|snv,True,False +11:2570712:TGG:T,KCNQ1,VCV000817323,817323,NM_000218.3(KCNQ1):c.566_567del (p.Gly189fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,817323,817323,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2570712:tgg:t|deletion,True,False +11:2570662:AC:A,KCNQ1,VCV000817016,817016,NM_000218.3(KCNQ1):c.513del (p.Glu170_Tyr171insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,817016,817016,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2570662:ac:a|deletion,True,False +11:2587693:G:A,KCNQ1,VCV000812675,812675,NM_000218.3(KCNQ1):c.1251+1G>A,Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,812675,812675,Long QT syndrome 1|Long QT syndrome,Long QT syndrome 1|Long QT syndrome,Long QT syndrome 1|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2587693:g:a|snv,True,False +11:2445471:T:A,KCNQ1,VCV000684802,684802,NM_000218.3(KCNQ1):c.373T>A (p.Tyr125Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,684802,684802,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445471:t:a|snv,True,False +11:2528008:T:C,KCNQ1,VCV000684787,684787,NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,684787,684787,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2528008:t:c|snv,True,False +11:2776056:T:G,KCNQ1,VCV000667007,667007,NM_000218.3(KCNQ1):c.1685+2T>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,667007,667007,"Congenital long QT syndrome|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1","Congenital long QT syndrome|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1","Congenital long QT syndrome|Short QT syndrome type 2;Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1",variation_id,,,,representation_repairable,0.45,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,11:2776056:t:g|snv,True,False +11:2572055:C:A,KCNQ1,VCV000665471,665471,NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,665471,665471,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,Long QT syndrome||Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572055:c:a|snv,True,False +11:2583486:G:C,KCNQ1,VCV000660595,660595,NM_000218.3(KCNQ1):c.973G>C (p.Gly325Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,660595,660595,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583486:g:c|snv,True,False +11:2571404:G:A,KCNQ1,VCV000651458,651458,NM_000218.3(KCNQ1):c.683+1G>A,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,651458,651458,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,Long QT syndrome|Congenital long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2571404:g:a|snv,True,False +11:2583550:G:T,KCNQ1,VCV000641597,641597,NM_000218.3(KCNQ1):c.1032+5G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,641597,641597,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583550:g:t|snv,True,False +11:2585305:C:T,KCNQ1,VCV000620198,620198,NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,620198,620198,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2585305:c:t|snv,True,False +11:2572846:G:T,KCNQ1,VCV000620103,620103,NM_000218.3(KCNQ1):c.781G>T (p.Glu261Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,620103,620103,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572846:g:t|snv,True,False +11:2768851:GA:G,KCNQ1,VCV000587644,587644,NM_000218.3(KCNQ1):c.1524del (p.Glu508fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,587644,587644,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2768851:ga:g|deletion,True,False +11:2583433:A:G,KCNQ1,VCV000582668,582668,NM_000218.3(KCNQ1):c.922-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,582668,582668,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583433:a:g|snv,True,False +11:2583442:TCAC:T,KCNQ1,VCV000581345,581345,NM_000218.3(KCNQ1):c.932CCA[1] (p.Thr312del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,581345,581345,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583442:tcac:t|deletion,True,False +11:2587579:A:T,KCNQ1,VCV000581004,581004,NM_000218.3(KCNQ1):c.1138A>T (p.Arg380Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,581004,581004,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2587579:a:t|snv,True,False +11:2768841:CAG:C,KCNQ1,VCV000576205,576205,NM_000218.3(KCNQ1):c.1515-2_1515-1del,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,576205,576205,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2768841:cag:c|deletion,True,False +11:2571324:G:C,KCNQ1,VCV000573523,573523,NM_000218.3(KCNQ1):c.605-1G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,573523,573523,"Long QT syndrome|Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Long QT syndrome 1","Long QT syndrome|Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Long QT syndrome 1","Long QT syndrome|Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Long QT syndrome 1",variation_id,,,,locus_or_regional_context,0.25,LQTS|SQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,11:2571324:g:c|snv,True,False +11:2572061:GGGAGGCACCT:G,KCNQ1,VCV000570590,570590,NM_000218.3(KCNQ1):c.739_748del (p.Thr247fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,570590,570590,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572061:gggaggcacct:g|deletion,True,False +11:2777002:G:C,KCNQ1,VCV000570319,570319,NM_000218.3(KCNQ1):c.1702G>C (p.Gly568Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,570319,570319,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2777002:g:c|snv,True,False +11:2583545:G:T,KCNQ1,VCV000560649,560649,NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,560649,560649,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,Long QT syndrome|Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583545:g:t|snv,True,False +11:2572850:T:C,KCNQ1,VCV000560359,560359,NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,560359,560359,Prolonged QT interval|Long QT syndrome 1|Long QT syndrome|Cardiovascular phenotype,Prolonged QT interval|Long QT syndrome 1|Long QT syndrome|Cardiovascular phenotype,Prolonged QT interval|Long QT syndrome 1|Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572850:t:c|snv,True,False +11:2588717:AG:A,KCNQ1,VCV000526930,526930,NM_000218.3(KCNQ1):c.1257del (p.Lys422fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526930,526930,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2588717:ag:a|deletion,True,False +11:2445192:A:T,KCNQ1,VCV000523769,523769,NM_000218.3(KCNQ1):c.94A>T (p.Lys32Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,523769,523769,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445192:a:t|snv,True,False +11:2583447:A:T,KCNQ1,VCV000522585,522585,NM_000218.3(KCNQ1):c.934A>T (p.Thr312Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,522585,522585,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583447:a:t|snv,True,False +11:2572059:C:T,KCNQ1,VCV000519369,519369,NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519369,519369,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,11:2572059:c:t|snv,True,False +11:2570659:AG:A,KCNQ1,VCV000519357,519357,NM_000218.3(KCNQ1):c.510del (p.Glu170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519357,519357,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2570659:ag:a|deletion,True,False +11:2777034:TG:T,KCNQ1,VCV000517664,517664,NM_000218.3(KCNQ1):c.1732+5del,Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,517664,517664,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2777034:tg:t|deletion,True,False +11:2661990:AGCAT:A,KCNQ1,VCV000496690,496690,NM_000218.3(KCNQ1):c.1426_1429del (p.Met476fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,496690,496690,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2661990:agcat:a|deletion,True,False +11:2445473:C:A,KCNQ1,VCV000489011,489011,NM_000218.3(KCNQ1):c.375C>A (p.Tyr125Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,489011,489011,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445473:c:a|snv,True,False +11:2572899:C:G,KCNQ1,VCV000456869,456869,NM_000218.3(KCNQ1):c.834C>G (p.Tyr278Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456869,456869,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572899:c:g|snv,True,False +11:2583456:T:C,KCNQ1,VCV000449302,449302,NM_000218.3(KCNQ1):c.943T>C (p.Tyr315His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,449302,449302,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583456:t:c|snv,True,False +11:2571373:A:AG,KCNQ1,VCV000449283,449283,NM_000218.3(KCNQ1):c.657dup (p.Gln220fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,449283,449283,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2571373:a:ag|duplication,True,False +11:2775977:C:CGATGT,KCNQ1,VCV000448975,448975,NM_000218.3(KCNQ1):c.1610_1614dup (p.Arg539fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,448975,448975,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2775977:c:cgatgt|duplication,True,False +11:2572060:AGG:A,KCNQ1,VCV000438610,438610,NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,438610,438610,Jervell and Lange-Nielsen syndrome 1|Abnormality of the cardiovascular system,Jervell and Lange-Nielsen syndrome 1|Abnormality of the cardiovascular system,Jervell and Lange-Nielsen syndrome 1|Abnormality of the cardiovascular system,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572060:agg:a|deletion,True,False +11:2570706:G:T,KCNQ1,VCV000432149,432149,NM_000218.3(KCNQ1):c.556G>T (p.Gly186Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,432149,432149,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2570706:g:t|snv,True,False +11:2588785:CA:C,KCNQ1,VCV000431370,431370,NM_000218.3(KCNQ1):c.1325del (p.His442fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,431370,431370,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2588785:ca:c|deletion,True,False +11:2768860:CG:C,KCNQ1,VCV000430941,430941,NM_000218.3(KCNQ1):c.1534del (p.Ala512fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,430941,430941,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2768860:cg:c|deletion,True,False +11:2528004:ACT:A,KCNQ1,VCV000421737,421737,NM_000218.3(KCNQ1):c.468_469del (p.Phe157fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,421737,421737,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2528004:act:a|deletion,True,False +11:2445231:C:CCGGCGGG,KCNQ1,VCV000420658,420658,NM_000218.3(KCNQ1):c.139_145dup (p.Ala49fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,420658,420658,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445231:c:ccggcggg|duplication,True,False +11:2571340:TG:T,KCNQ1,VCV000420529,420529,NM_000218.3(KCNQ1):c.622del (p.Ala208fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420529,420529,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2571340:tg:t|deletion,True,False +11:2445478:T:TCG,KCNQ1,VCV000419579,419579,NM_000218.3(KCNQ1):c.382_383dup (p.Val129fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,419579,419579,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2445478:t:tcg|duplication,True,False +11:2587616:G:A,KCNQ1,VCV000405268,405268,NM_000218.3(KCNQ1):c.1175G>A (p.Trp392Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405268,405268,Long QT syndrome||Jervell and Lange-Nielsen syndrome,Long QT syndrome||Jervell and Lange-Nielsen syndrome,Long QT syndrome||Jervell and Lange-Nielsen syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2587616:g:a|snv,True,False +11:2778025:AG:A,KCNQ1,VCV000405264,405264,NM_000218.3(KCNQ1):c.1783del (p.Arg594_Val595insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405264,405264,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2778025:ag:a|deletion,True,False +11:2572912:G:C,KCNQ1,VCV000405263,405263,NM_000218.3(KCNQ1):c.847G>C (p.Ala283Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405263,405263,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572912:g:c|snv,True,False +11:2572068:ACCTGGAGGCT:A,KCNQ1,VCV000405262,405262,NM_000218.3(KCNQ1):c.745_754del (p.Arg249fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,405262,405262,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572068:acctggaggct:a|deletion,True,False +11:2585225:C:A,KCNQ1,VCV000405261,405261,NM_000218.3(KCNQ1):c.1046C>A (p.Ser349Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,405261,405261,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2585225:c:a|snv,True,False +11:2572050:G:T,KCNQ1,VCV000405255,405255,NM_000218.3(KCNQ1):c.721G>T (p.Val241Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,405255,405255,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572050:g:t|snv,True,False +11:2572883:T:C,KCNQ1,VCV000405254,405254,NM_000218.3(KCNQ1):c.818T>C (p.Leu273Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405254,405254,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572883:t:c|snv,True,False +11:2572846:GA:TT,KCNQ1,VCV000405253,405253,NM_000218.3(KCNQ1):c.781_782delinsTT (p.Glu261Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405253,405253,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2572846:ga:tt|mnv_or_substitution,True,False +11:2572908:C:A,KCNQ1,VCV000379504,379504,NM_000218.3(KCNQ1):c.843C>A (p.Tyr281Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,379504,379504,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,11:2572908:c:a|snv,True,False +11:2583434:G:A,KCNQ1,VCV000372568,372568,NM_000218.3(KCNQ1):c.922-1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6403508771929824,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,372568,372568,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,11:2583434:g:a|snv,True,False +7:150958401:CCGGGGCGCCCGCGCCGCCCGCG:C,KCNH2,VCV004804554,4804554,NM_000238.4(KCNH2):c.552_573del (p.Ala185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4804554,4804554,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958401:ccggggcgcccgcgccgcccgcg:c|deletion,True,False +7:150957304:TCA:T,KCNH2,VCV004763986,4763986,NM_000238.4(KCNH2):c.1113_1114del (p.Lys373fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4763986,4763986,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150957304:tca:t|deletion,True,False +7:150974776:TG:T,KCNH2,VCV004758983,4758983,NM_000238.4(KCNH2):c.241del (p.Gln81fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4758983,4758983,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974776:tg:t|deletion,True,False +7:150952789:CA:C,KCNH2,VCV004758579,4758579,NM_000238.4(KCNH2):c.1192del (p.Trp398fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4758579,4758579,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952789:ca:c|deletion,True,False +7:150947810:C:CCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCT,KCNH2,VCV004757905,4757905,NM_000238.4(KCNH2):c.2699_2760dup (p.Gly921fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4757905,4757905,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947810:c:cccggctactcggccctgcccccgcccggcccggccccaaggccgacacctcccctggctgct|duplication,True,False +7:150974714:CT:C,KCNH2,VCV004733133,4733133,NM_000238.4(KCNH2):c.303del (p.Asp102fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4733133,4733133,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974714:ct:c|deletion,True,False +7:150948451:C:CGT,KCNH2,VCV004728357,4728357,NM_000238.4(KCNH2):c.2683_2684dup (p.Asp896fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4728357,4728357,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948451:c:cgt|duplication,True,False +7:150974927:TG:T,KCNH2,VCV004727073,4727073,NM_000238.4(KCNH2):c.90del (p.Ile31fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4727073,4727073,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974927:tg:t|deletion,True,False +7:150950996:GGGGATCT:G,KCNH2,VCV004726900,4726900,NM_000238.4(KCNH2):c.2063_2069del (p.Gln688fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4726900,4726900,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950996:ggggatct:g|deletion,True,False +7:150951619:G:A,KCNH2,VCV004724072,4724072,NM_000238.4(KCNH2):c.1774C>T (p.Gln592Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4724072,4724072,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951619:g:a|snv,True,False +7:150947659:TC:T,KCNH2,VCV004722731,4722731,NM_000238.4(KCNH2):c.2911del (p.Glu971fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4722731,4722731,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947659:tc:t|deletion,True,False +7:150948935:AG:A,KCNH2,VCV004721201,4721201,NM_000238.4(KCNH2):c.2512del (p.Leu838fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4721201,4721201,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948935:ag:a|deletion,True,False +7:150958060:G:GGT,KCNH2,VCV004720344,4720344,NM_000238.4(KCNH2):c.913_914dup (p.Gly306fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4720344,4720344,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958060:g:ggt|duplication,True,False +7:150950985:C:CT,KCNH2,VCV004720342,4720342,NM_000238.4(KCNH2):c.2080_2081insA (p.Arg694fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4720342,4720342,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950985:c:ct|insertion,True,False +7:150948873:TG:T,KCNH2,VCV004719590,4719590,NM_000238.4(KCNH2):c.2574del (p.Thr859fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4719590,4719590,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948873:tg:t|deletion,True,False +7:150951653:GT:G,KCNH2,VCV004715748,4715748,NM_000238.4(KCNH2):c.1739del (p.Asp580fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4715748,4715748,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951653:gt:g|deletion,True,False +7:150950398:CACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCA:C,KCNH2,VCV004715444,4715444,NM_000238.4(KCNH2):c.2146-50_2167del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4715444,4715444,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950398:cactcagggaagcccttcagcacctgggggcagggtgggggcagctcagcacaccctcccttgggacccccca:c|deletion,True,False +7:150947816:T:TC,KCNH2,VCV004714508,4714508,NM_000238.4(KCNH2):c.2754_2755insG (p.Ser919fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4714508,4714508,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947816:t:tc|insertion,True,False +7:150947516:T:C,KCNH2,VCV004710895,4710895,NM_000238.4(KCNH2):c.2966-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4710895,4710895,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947516:t:c|snv,True,False +7:150947452:G:A,KCNH2,VCV004710749,4710749,NM_000238.4(KCNH2):c.3028C>T (p.Gln1010Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4710749,4710749,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947452:g:a|snv,True,False +7:150951022:C:A,KCNH2,VCV004709557,4709557,NM_000238.4(KCNH2):c.2044G>T (p.Glu682Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4709557,4709557,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951022:c:a|snv,True,False +7:150950393:G:A,KCNH2,VCV004709556,4709556,NM_000238.4(KCNH2):c.2173C>T (p.Gln725Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4709556,4709556,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950393:g:a|snv,True,False +7:150974868:CTCGCAGAAGCCGTCG:C,KCNH2,VCV004686179,4686179,NM_000238.4(KCNH2):c.135_149del (p.Asn45_Glu50delinsLys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4686179,4686179,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974868:ctcgcagaagccgtcg:c|deletion,True,False +7:150974766:C:CTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG,KCNH2,VCV004681926,4681926,NM_000238.4(KCNH2):c.221_251dup (p.Gln84fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4681926,4681926,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974766:c:ctgcgcgatctgcgcggcagcgcggcgctgcg|duplication,True,False +7:150947386:GACCC:CCG,KCNH2,VCV004614356,4614356,NM_000238.4(KCNH2):c.3090_3094delinsCGG (p.Arg1032fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4614356,4614356,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947386:gaccc:ccg|deletion,True,False +7:150958125:ACGAGGCGCGGCGCACG:A,KCNH2,VCV004614351,4614351,NM_000238.4(KCNH2):c.834_849del (p.Val279fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4614351,4614351,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958125:acgaggcgcggcgcacg:a|deletion,True,False +7:150977911:CAT:C,KCNH2,VCV004614346,4614346,NM_000238.4(KCNH2):c.1_2del (p.Met1fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4614346,4614346,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150977911:cat:c|deletion,True,False +7:150950421:CTGGGGGCAGGG:C,KCNH2,VCV004614344,4614344,NM_000238.4(KCNH2):c.2146-12_2146-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4614344,4614344,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950421:ctgggggcaggg:c|deletion,True,False +7:150958115:T:TCGTCGGC,KCNH2,VCV004529668,4529668,NM_000238.4(KCNH2):c.853_859dup (p.Asp287fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4529668,4529668,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958115:t:tcgtcggc|duplication,True,False +7:150947398:A:AGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATC,KCNH2,VCV004281328,4281328,NM_000238.4(KCNH2):c.3041_3081dup (p.Ser1028fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4281328,4281328,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947398:a:agagggggatgttgaggaggctgggggtgggggcggggcatc|duplication,True,False +7:150951686:G:T,KCNH2,VCV004280330,4280330,NM_000238.4(KCNH2):c.1707C>A (p.Tyr569Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4280330,4280330,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951686:g:t|snv,True,False +7:150952518:G:GCGGC,KCNH2,VCV004090314,4090314,NM_000238.4(KCNH2):c.1460_1463dup (p.Ile489fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4090314,4090314,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952518:g:gcggc|duplication,True,False +7:150951522:C:A,KCNH2,VCV004074744,4074744,NM_000238.4(KCNH2):c.1871G>T (p.Ser624Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4074744,4074744,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951522:c:a|snv,True,False +7:150974883:G:GGAC,KCNH2,VCV004074721,4074721,NM_000238.4(KCNH2):c.134_135insGTC (p.Asn45delinsLysSer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4074721,4074721,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974883:g:ggac|insertion,True,False +7:150949002:CA:C,KCNH2,VCV004071954,4071954,NM_000238.4(KCNH2):c.2445del (p.Gly816fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4071954,4071954,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150949002:ca:c|deletion,True,False +7:150948455:CGCCT:C,KCNH2,VCV003911914,3911914,NM_000238.4(KCNH2):c.2677_2680del (p.Arg893fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3911914,3911914,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948455:cgcct:c|deletion,True,False +7:150950971:C:A,KCNH2,VCV003911046,3911046,NM_000238.4(KCNH2):c.2095G>T (p.Glu699Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3911046,3911046,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950971:c:a|snv,True,False +7:150951627:A:G,KCNH2,VCV003900638,3900638,NM_000238.4(KCNH2):c.1766T>C (p.Leu589Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3900638,3900638,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951627:a:g|snv,True,False +7:150950199:G:C,KCNH2,VCV003895127,3895127,NM_000238.4(KCNH2):c.2367C>G (p.Ile789Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895127,3895127,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950199:g:c|snv,True,False +7:150948472:CTTGCGCTTGCG:C,KCNH2,VCV003895051,3895051,NM_000238.4(KCNH2):c.2653_2663del (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895051,3895051,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948472:cttgcgcttgcg:c|deletion,True,False +7:150977847:C:T,KCNH2,VCV003895040,3895040,NM_000238.4(KCNH2):c.67G>A (p.Glu23Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895040,3895040,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150977847:c:t|snv,True,False +7:150952746:C:T,KCNH2,VCV003894984,3894984,NM_000238.4(KCNH2):c.1236G>A (p.Trp412Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3894984,3894984,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952746:c:t|snv,True,False +7:150948465:AG:A,KCNH2,VCV003894466,3894466,NM_000238.4(KCNH2):c.2670del (p.Phe891fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894466,3894466,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948465:ag:a|deletion,True,False +7:150947792:ACGGCCCCCCCGGC:A,KCNH2,VCV003893973,3893973,NM_000238.4(KCNH2):c.2766_2778del (p.Pro923fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3893973,3893973,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947792:acggcccccccggc:a|deletion,True,False +7:150958239:C:CGG,KCNH2,VCV003862757,3862757,NM_000238.4(KCNH2):c.734_735dup (p.Gly246fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3862757,3862757,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958239:c:cgg|duplication,True,False +7:150947802:C:CG,KCNH2,VCV003775096,3775096,NM_000238.4(KCNH2):c.2768dup (p.Pro926fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3775096,3775096,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947802:c:cg|duplication,True,False +7:150947833:GC:G,KCNH2,VCV003773804,3773804,NM_000238.4(KCNH2):c.2737del (p.Ala913fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3773804,3773804,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947833:gc:g|deletion,True,False +7:150947606:CT:C,KCNH2,VCV003764662,3764662,NM_000238.4(KCNH2):c.2964del (p.Gly989fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3764662,3764662,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947606:ct:c|deletion,True,False +7:150977853:T:TG,KCNH2,VCV003728256,3728256,NM_000238.4(KCNH2):c.60dup (p.Lys21fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3728256,3728256,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150977853:t:tg|duplication,True,False +7:150974851:CG:C,KCNH2,VCV003724054,3724054,NM_000238.4(KCNH2):c.166del (p.Arg56fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3724054,3724054,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974851:cg:c|deletion,True,False +7:150948466:G:GGACAACTT,KCNH2,VCV003721525,3721525,NM_000238.4(KCNH2):c.2662_2669dup (p.Phe891fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3721525,3721525,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948466:g:ggacaactt|duplication,True,False +7:150974776:T:TGCGCGGCA,KCNH2,VCV003720793,3720793,NM_000238.4(KCNH2):c.234_241dup (p.Gln81fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3720793,3720793,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974776:t:tgcgcggca|duplication,True,False +7:150951583:C:A,KCNH2,VCV003720791,3720791,NM_000238.4(KCNH2):c.1810G>T (p.Gly604Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3720791,3720791,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951583:c:a|snv,True,False +7:150950211:GC:G,KCNH2,VCV003720787,3720787,NM_000238.4(KCNH2):c.2354del (p.Gly785fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3720787,3720787,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950211:gc:g|deletion,True,False +7:150947804:GCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGC:G,KCNH2,VCV003712259,3712259,NM_000238.4(KCNH2):c.2732_2766del (p.Gly911fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3712259,3712259,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947804:gccggccccggctactcggccctgcccccgcccggc:g|deletion,True,False +7:150952480:T:G,KCNH2,VCV003657287,3657287,NM_000238.4(KCNH2):c.1502A>C (p.Asp501Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3657287,3657287,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952480:t:g|snv,True,False +7:150974794:TGC:T,KCNH2,VCV003655448,3655448,NM_000238.4(KCNH2):c.222_223del (p.Gln75fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3655448,3655448,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974794:tgc:t|deletion,True,False +7:150951069:AG:A,KCNH2,VCV003651645,3651645,NM_000238.4(KCNH2):c.1996del (p.Leu666fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3651645,3651645,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951069:ag:a|deletion,True,False +7:150958119:CG:C,KCNH2,VCV003651113,3651113,NM_000238.4(KCNH2):c.855del (p.Asp286fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3651113,3651113,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958119:cg:c|deletion,True,False +7:150950175:GGCCACGACGACGTC:G,KCNH2,VCV003602222,3602222,NM_000238.4(KCNH2):c.2377_2390del (p.Asp793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3602222,3602222,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950175:ggccacgacgacgtc:g|deletion,True,False +7:150974842:A:G,KCNH2,VCV003544416,3544416,NM_000238.4(KCNH2):c.176T>C (p.Val59Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3544416,3544416,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974842:a:g|snv,True,False +7:150951076:G:A,KCNH2,VCV003386898,3386898,NM_000238.4(KCNH2):c.1990C>T (p.Gln664Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3386898,3386898,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951076:g:a|snv,True,False +7:150974852:G:A,KCNH2,VCV003383250,3383250,NM_000238.4(KCNH2):c.166C>T (p.Arg56Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3383250,3383250,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974852:g:a|snv,True,False +7:150951102:A:T,KCNH2,VCV003382540,3382540,NM_000238.4(KCNH2):c.1964T>A (p.Ile655Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3382540,3382540,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951102:a:t|snv,True,False +7:150951462:A:AC,KCNH2,VCV003376960,3376960,NM_000238.4(KCNH2):c.1930dup (p.Val644fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376960,3376960,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951462:a:ac|duplication,True,False +7:150947807:GGCCCCGGCTACTCGGCCCT:G,KCNH2,VCV003376939,3376939,NM_000238.4(KCNH2):c.2745_2763del (p.Pro917fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3376939,3376939,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947807:ggccccggctactcggccct:g|deletion,True,False +7:150951801:C:G,KCNH2,VCV003370336,3370336,NM_000238.4(KCNH2):c.1592G>C (p.Arg531Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3370336,3370336,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951801:c:g|snv,True,False +7:150974774:T:TCTGCGCGG,KCNH2,VCV003341931,3341931,NM_000238.4(KCNH2):c.236_243dup (p.Ile82fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3341931,3341931,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974774:t:tctgcgcgg|duplication,True,False +7:150952717:G:T,KCNH2,VCV003338328,3338328,NM_000238.4(KCNH2):c.1265C>A (p.Ala422Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3338328,3338328,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952717:g:t|snv,True,False +7:150947400:AG:A,KCNH2,VCV003255227,3255227,NM_000238.4(KCNH2):c.3079del (p.Leu1027fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3255227,3255227,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947400:ag:a|deletion,True,False +7:150951576:GAGGGGCCGCCCAG:ATACATACTT,KCNH2,VCV003254651,3254651,NM_000238.4(KCNH2):c.1804_1817delinsAAGTATGTAT (p.Leu602fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3254651,3254651,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951576:gaggggccgcccag:atacatactt|deletion,True,False +7:150958109:TCGATGTCGTCGGCCGA:T,KCNH2,VCV003254536,3254536,NM_000238.4(KCNH2):c.850_865del (p.Ser284fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3254536,3254536,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958109:tcgatgtcgtcggccga:t|deletion,True,False +7:150950944:TGTAGG:T,KCNH2,VCV003252026,3252026,NM_000238.4(KCNH2):c.2117_2121del (p.Ser706fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3252026,3252026,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950944:tgtagg:t|deletion,True,False +7:150977842:G:GGC,KCNH2,VCV003236854,3236854,NM_000238.4(KCNH2):c.71_72insGC (p.Gln25fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3236854,3236854,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150977842:g:ggc|insertion,True,False +7:150947367:ACGTCGCCC:A,KCNH2,VCV003230731,3230731,NM_000238.4(KCNH2):c.3105_3112del (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3230731,3230731,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947367:acgtcgccc:a|deletion,True,False +7:150974721:G:C,KCNH2,VCV003230730,3230730,NM_000238.4(KCNH2):c.297C>G (p.Tyr99Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3230730,3230730,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974721:g:c|snv,True,False +7:150950843:TGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGG:T,KCNH2,VCV003230725,3230725,NM_000238.4(KCNH2):c.2013_2145+77del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3230725,3230725,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950843:tgctgtgccaagaggttcccctctgccaccccactcttcccagcctgccacccactggccacgctctggtggcctcaccgcgttcatgtcgatgccgttggtgtaggaccaggcgtgctggaagtactcctcgaggcgctggcgcaggggattggggatctggtggaagcggatgaactcccgcacccgcagcatctgtgtgtggtagcgg:t|deletion,True,False +7:150952852:A:AC,KCNH2,VCV003076042,3076042,NC_000007.14:g.150952854dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3076042,3076042,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952852:a:ac|duplication,True,False +7:150952817:TG:T,KCNH2,VCV003076025,3076025,NM_000238.4(KCNH2):c.1164del (p.Glu387_Tyr388insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3076025,3076025,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952817:tg:t|deletion,True,False +7:150947857:A:ACCTC,KCNH2,VCV003075307,3075307,NM_000238.4(KCNH2):c.2710_2713dup (p.Val905fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3075307,3075307,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947857:a:acctc|duplication,True,False +7:150950920:CCG:C,KCNH2,VCV003074111,3074111,NM_000238.4(KCNH2):c.2144_2145del (p.Ala715fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3074111,3074111,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950920:ccg:c|deletion,True,False +7:150951479:CT:C,KCNH2,VCV003068475,3068475,NM_000238.4(KCNH2):c.1913del (p.Lys638fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3068475,3068475,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951479:ct:c|deletion,True,False +7:150951530:G:T,KCNH2,VCV003066169,3066169,NM_000238.4(KCNH2):c.1863C>A (p.Ser621Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3066169,3066169,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951530:g:t|snv,True,False +7:150951730:A:G,KCNH2,VCV003064233,3064233,NM_000238.4(KCNH2):c.1663T>C (p.Cys555Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3064233,3064233,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951730:a:g|snv,True,False +7:150958303:CCCTG:C,KCNH2,VCV002918473,2918473,NM_000238.4(KCNH2):c.668_671del (p.Ala223fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2918473,2918473,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958303:ccctg:c|deletion,True,False +7:150946999:G:A,KCNH2,VCV002906537,2906537,NM_000238.4(KCNH2):c.3208C>T (p.Gln1070Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2906537,2906537,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150946999:g:a|snv,True,False +7:150974750:C:A,KCNH2,VCV002880265,2880265,NM_000238.4(KCNH2):c.268G>T (p.Glu90Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2880265,2880265,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974750:c:a|snv,True,False +7:150958139:AC:A,KCNH2,VCV002858211,2858211,NM_000238.4(KCNH2):c.835del (p.Val279fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2858211,2858211,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958139:ac:a|deletion,True,False +7:150946925:C:CA,KCNH2,VCV002832789,2832789,NM_000238.4(KCNH2):c.3281dup (p.Leu1095fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2832789,2832789,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150946925:c:ca|duplication,True,False +7:150948906:ACTCAGGGT:A,KCNH2,VCV002821739,2821739,NM_000238.4(KCNH2):c.2534_2541del (p.Tyr845fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2821739,2821739,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948906:actcagggt:a|deletion,True,False +7:150952722:G:C,KCNH2,VCV002814358,2814358,NM_000238.4(KCNH2):c.1260C>G (p.Tyr420Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2814358,2814358,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952722:g:c|snv,True,False +7:150957440:AG:A,KCNH2,VCV002813131,2813131,NM_000238.4(KCNH2):c.978del (p.Tyr327fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2813131,2813131,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150957440:ag:a|deletion,True,False +7:150958217:G:GC,KCNH2,VCV002790199,2790199,NM_000238.4(KCNH2):c.757dup (p.Ala253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2790199,2790199,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958217:g:gc|duplication,True,False +7:150948995:G:C,KCNH2,VCV002773436,2773436,NM_000238.4(KCNH2):c.2453C>G (p.Ser818Trp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2773436,2773436,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,7:150948995:g:c|snv,True,False +7:150947795:GCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCC:G,KCNH2,VCV002773424,2773424,NM_000238.4(KCNH2):c.2742_2775del (p.Ala915fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2773424,2773424,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947795:gcccccccggccggccccggctactcggccctgcc:g|deletion,True,False +7:150952632:C:CTGGCAGGCGTAGCCACACTCGG,KCNH2,VCV002772506,2772506,NM_000238.4(KCNH2):c.1328_1349dup (p.Gln450fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2772506,2772506,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952632:c:ctggcaggcgtagccacactcgg|duplication,True,False +7:150950146:GTGCCCGCCCCCCACCCCATACC:G,KCNH2,VCV002770983,2770983,NM_000238.4(KCNH2):c.2398_2398+21del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2770983,2770983,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950146:gtgcccgccccccaccccatacc:g|deletion,True,False +7:150947384:C:CCG,KCNH2,VCV002763043,2763043,NM_000238.4(KCNH2):c.3094_3095dup (p.Arg1033fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2763043,2763043,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947384:c:ccg|duplication,True,False +7:150952800:GC:G,KCNH2,VCV002760013,2760013,NM_000238.4(KCNH2):c.1181del (p.Arg394fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2760013,2760013,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952800:gc:g|deletion,True,False +7:150951768:TA:T,KCNH2,VCV002758800,2758800,NM_000238.4(KCNH2):c.1624del (p.Tyr542fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2758800,2758800,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951768:ta:t|deletion,True,False +7:150946808:AGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCT:A,KCNH2,VCV002758297,2758297,NM_000238.4(KCNH2):c.3194_3330+68del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2758297,2758297,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150946808:agcaggtttgggctggaatcggggaacaagcgggtcacggtacatcgaggaagcagggctggagcttacctgagaaagcgagtccaaggtgagggtggggagggggctgacgggcaacagcggggatgtggaagtggggccaggccccggggtggtcacagcactgtaggcgggcgggaccagcgtcatctgcctctgtagcagct:a|deletion,True,False +7:150958207:G:GA,KCNH2,VCV002754986,2754986,NM_000238.4(KCNH2):c.767dup (p.Asn257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2754986,2754986,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958207:g:ga|duplication,True,False +7:150958315:GT:G,KCNH2,VCV002753718,2753718,NM_000238.4(KCNH2):c.659del (p.Asn220fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2753718,2753718,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958315:gt:g|deletion,True,False +7:150948483:G:GTTGCC,KCNH2,VCV002748964,2748964,NM_000238.4(KCNH2):c.2648_2652dup (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2748964,2748964,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948483:g:gttgcc|duplication,True,False +7:150951767:G:T,KCNH2,VCV002748626,2748626,NM_000238.4(KCNH2):c.1626C>A (p.Tyr542Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2748626,2748626,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951767:g:t|snv,True,False +7:150974846:C:A,KCNH2,VCV002746100,2746100,NM_000238.4(KCNH2):c.172G>T (p.Glu58Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2746100,2746100,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974846:c:a|snv,True,False +7:150947378:G:GGGCC,KCNH2,VCV002745936,2745936,NM_000238.4(KCNH2):c.3098_3101dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2745936,2745936,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947378:g:gggcc|duplication,True,False +7:150947055:C:G,KCNH2,VCV002744101,2744101,NM_000238.4(KCNH2):c.3153-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2744101,2744101,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947055:c:g|snv,True,False +7:150951515:GC:G,KCNH2,VCV002735100,2735100,NM_000238.4(KCNH2):c.1877del (p.Gly626fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2735100,2735100,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951515:gc:g|deletion,True,False +7:150951109:CA:C,KCNH2,VCV002735098,2735098,NM_000238.4(KCNH2):c.1956del (p.Met651_Tyr652insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2735098,2735098,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951109:ca:c|deletion,True,False +7:150949051:T:C,KCNH2,VCV002735096,2735096,NM_000238.4(KCNH2):c.2399-2A>G,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2735096,2735096,Long QT syndrome||Long QT syndrome 2,Long QT syndrome||Long QT syndrome 2,Long QT syndrome||Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150949051:t:c|snv,True,False +7:150958121:GCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTT:ACGCCTCGGGCTC,KCNH2,VCV002727880,2727880,NM_000238.4(KCNH2):c.769_854delinsGAGCCCGAGGCGT (p.Asn257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2727880,2727880,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958121:gccgacgaggcgcggcgcacgctggcgcagctttctcgggagcgcgtccgggccaggctgcagctggagcccgaggcgtcggggtt:acgcctcgggctc|deletion,True,False +7:150950402:CAG:C,KCNH2,VCV002725070,2725070,NM_000238.4(KCNH2):c.2162_2163del (p.Pro721fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2725070,2725070,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950402:cag:c|deletion,True,False +7:150950409:G:GC,KCNH2,VCV002698764,2698764,NM_000238.4(KCNH2):c.2156dup (p.Phe720fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2698764,2698764,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950409:g:gc|duplication,True,False +7:150947804:GCCGGCCCCGGCTACTCGGC:G,KCNH2,VCV002694065,2694065,NM_000238.4(KCNH2):c.2748_2766del (p.Pro917fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2694065,2694065,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947804:gccggccccggctactcggc:g|deletion,True,False +7:150946949:A:AC,KCNH2,VCV002687478,2687478,NM_000238.4(KCNH2):c.3257_3258insG (p.Gly1087fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2687478,2687478,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150946949:a:ac|insertion,True,False +7:150951639:C:T,KCNH2,VCV002665002,2665002,NM_000238.4(KCNH2):c.1754G>A (p.Trp585Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2665002,2665002,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951639:c:t|snv,True,False +7:150947853:CG:C,KCNH2,VCV002664629,2664629,NM_000238.4(KCNH2):c.2717del (p.Ser906fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2664629,2664629,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947853:cg:c|deletion,True,False +7:150947683:G:GGCCT,KCNH2,VCV002637626,2637626,NM_000238.4(KCNH2):c.2884_2887dup (p.Pro963fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2637626,2637626,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947683:g:ggcct|duplication,True,False +7:150957325:TC:T,KCNH2,VCV002579645,2579645,NM_000238.4(KCNH2):c.1093del (p.Glu365fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2579645,2579645,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150957325:tc:t|deletion,True,False +7:150948983:A:G,KCNH2,VCV002575020,2575020,NM_000238.4(KCNH2):c.2465T>C (p.Val822Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575020,2575020,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948983:a:g|snv,True,False +7:150951699:G:C,KCNH2,VCV002574032,2574032,NM_000238.4(KCNH2):c.1694C>G (p.Ala565Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2574032,2574032,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951699:g:c|snv,True,False +7:150947360:GCTCTCCACGTCGCCCCG:CCGCCGACCC,KCNH2,VCV002571299,2571299,NM_000238.4(KCNH2):c.3103_3120delinsGGGTCGGCGG (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2571299,2571299,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947360:gctctccacgtcgccccg:ccgccgaccc|deletion,True,False +7:150947643:GT:G,KCNH2,VCV002567296,2567296,NM_000238.4(KCNH2):c.2927del (p.Asp976fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2567296,2567296,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947643:gt:g|deletion,True,False +7:150951447:C:G,KCNH2,VCV002452993,2452993,NM_000238.4(KCNH2):c.1945+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2452993,2452993,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951447:c:g|snv,True,False +7:150957427:CT:C,KCNH2,VCV002442075,2442075,NM_000238.4(KCNH2):c.991del (p.Ser331fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2442075,2442075,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150957427:ct:c|deletion,True,False +7:150946928:CGG:C,KCNH2,VCV002429379,2429379,NM_000238.4(KCNH2):c.3277_3278del (p.Pro1093fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2429379,2429379,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150946928:cgg:c|deletion,True,False +7:150947713:A:AG,KCNH2,VCV002227986,2227986,NM_000238.4(KCNH2):c.2857dup (p.Leu953fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2227986,2227986,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947713:a:ag|duplication,True,False +7:150951459:A:C,KCNH2,VCV002136626,2136626,NM_000238.4(KCNH2):c.1934T>G (p.Met645Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2136626,2136626,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951459:a:c|snv,True,False +7:150947034:G:GC,KCNH2,VCV002136623,2136623,NM_000238.4(KCNH2):c.3172dup (p.Ala1058fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2136623,2136623,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947034:g:gc|duplication,True,False +7:150952634:GGCAGGCGTAGCCACACTCGGTA:G,KCNH2,VCV002133333,2133333,NM_000238.4(KCNH2):c.1326_1347del (p.Thr443fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2133333,2133333,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952634:ggcaggcgtagccacactcggta:g|deletion,True,False +7:150945474:G:GC,KCNH2,VCV002130516,2130516,NM_000238.4(KCNH2):c.3370dup (p.Ala1124fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2130516,2130516,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150945474:g:gc|duplication,True,False +7:150948544:C:G,KCNH2,VCV002128179,2128179,NM_000238.4(KCNH2):c.2593-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2128179,2128179,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948544:c:g|snv,True,False +7:150951045:TGGTA:T,KCNH2,VCV002125899,2125899,NM_000238.4(KCNH2):c.2017_2020del (p.Tyr673fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2125899,2125899,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951045:tggta:t|deletion,True,False +7:150951488:G:T,KCNH2,VCV002121024,2121024,NM_000238.4(KCNH2):c.1905C>A (p.Asn635Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2121024,2121024,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951488:g:t|snv,True,False +7:150951710:CGCGATGA:C,KCNH2,VCV002120904,2120904,NM_000238.4(KCNH2):c.1676_1682del (p.Leu559fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2120904,2120904,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951710:cgcgatga:c|deletion,True,False +7:150951812:CG:C,KCNH2,VCV002095758,2095758,NM_000238.4(KCNH2):c.1580del (p.Ala527fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2095758,2095758,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951812:cg:c|deletion,True,False +7:150951469:TGGA:T,KCNH2,VCV002088283,2088283,NM_000238.4(KCNH2):c.1921_1923del (p.Ser641del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2088283,2088283,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951469:tgga:t|deletion,True,False +7:150947872:T:TC,KCNH2,VCV002085464,2085464,NM_000238.4(KCNH2):c.2698dup (p.Glu900fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2085464,2085464,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947872:t:tc|duplication,True,False +7:150950260:A:AGT,KCNH2,VCV002078663,2078663,NM_000238.4(KCNH2):c.2304_2305dup (p.Leu769fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2078663,2078663,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950260:a:agt|duplication,True,False +7:150950406:G:GA,KCNH2,VCV002071298,2071298,NM_000238.4(KCNH2):c.2159dup (p.Pro721_Glu722insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2071298,2071298,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950406:g:ga|duplication,True,False +7:150950961:TG:T,KCNH2,VCV002062924,2062924,NM_000238.4(KCNH2):c.2104del (p.Gln702fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2062924,2062924,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950961:tg:t|deletion,True,False +7:150951769:A:G,KCNH2,VCV002055725,2055725,NM_000238.4(KCNH2):c.1624T>C (p.Tyr542His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2055725,2055725,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951769:a:g|snv,True,False +7:150951690:C:T,KCNH2,VCV002042701,2042701,NM_000238.4(KCNH2):c.1703G>A (p.Trp568Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2042701,2042701,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951690:c:t|snv,True,False +7:150946955:C:CGGGGTGG,KCNH2,VCV002033107,2033107,NM_000238.4(KCNH2):c.3245_3251dup (p.Gly1085fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2033107,2033107,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150946955:c:cggggtgg|duplication,True,False +7:150951345:AGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCAT:A,KCNH2,VCV002032030,2032030,NM_000238.4(KCNH2):c.1720_1945+102del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2032030,2032030,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951345:agttccagggcctcactctggcccggctagcagcctcagtttcctccaacttgggttcctccaccgtgggctctccccgccgcccgcccctgggcacactcacagccaatgagcatgacgcagatggagaagatcttctctgagttggtgttgggagagacgttgccgaagcccacactggtgaggctgctgaaggtgaagtagagcgccgtcacatacttgtccttgatggaggggccgcccaggccgctgctgttgtagggtttgcctatctggtcgcccaggttgtgcagccagccgatgcgtgagtccatgtgtggctgctccat:a|deletion,True,False +7:150958414:GCCGCCCGCGCCGC:G,KCNH2,VCV002023450,2023450,NM_000238.4(KCNH2):c.548_560del (p.Gly183fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2023450,2023450,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958414:gccgcccgcgccgc:g|deletion,True,False +7:150951627:A:AGGTT,KCNH2,VCV002016168,2016168,NM_000238.4(KCNH2):c.1762_1765dup (p.Leu589fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2016168,2016168,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951627:a:aggtt|duplication,True,False +7:150947376:C:CGGGG,KCNH2,VCV002012895,2012895,NM_000238.4(KCNH2):c.3100_3103dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2012895,2012895,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947376:c:cgggg|duplication,True,False +7:150947718:GCTGGAGCTGCGGC:G,KCNH2,VCV002002742,2002742,NM_000238.4(KCNH2):c.2840_2852del (p.Gly947fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2002742,2002742,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947718:gctggagctgcggc:g|deletion,True,False +7:150958414:GCCGCCCGC:G,KCNH2,VCV001994302,1994302,NM_000238.4(KCNH2):c.553_560del (p.Ala185fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1994302,1994302,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958414:gccgcccgc:g|deletion,True,False +7:150950275:G:GGT,KCNH2,VCV001994292,1994292,NM_000238.4(KCNH2):c.2289_2290dup (p.Pro764fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1994292,1994292,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950275:g:ggt|duplication,True,False +7:150958488:AG:A,KCNH2,VCV001968946,1968946,NM_000238.4(KCNH2):c.486del (p.Phe163fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1968946,1968946,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958488:ag:a|deletion,True,False +7:150957404:T:A,KCNH2,VCV001805233,1805233,NM_000238.4(KCNH2):c.1015A>T (p.Asn339Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1805233,1805233,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150957404:t:a|snv,True,False +7:150947380:G:GC,KCNH2,VCV001804945,1804945,NM_000238.4(KCNH2):c.3099dup (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1804945,1804945,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947380:g:gc|duplication,True,False +7:150957290:C:G,KCNH2,VCV001799488,1799488,NM_000238.4(KCNH2):c.1128+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1799488,1799488,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150957290:c:g|snv,True,False +7:150947667:C:CGGCG,KCNH2,VCV001797445,1797445,NM_000238.4(KCNH2):c.2900_2903dup (p.Gly969fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1797445,1797445,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947667:c:cggcg|duplication,True,False +7:150947676:TC:T,KCNH2,VCV001797337,1797337,NM_000238.4(KCNH2):c.2894del (p.Gly965fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1797337,1797337,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947676:tc:t|deletion,True,False +7:150947808:G:GC,KCNH2,VCV001795706,1795706,NM_000238.4(KCNH2):c.2762dup (p.Arg922fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1795706,1795706,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947808:g:gc|duplication,True,False +7:150947819:TCGGCCCTGCCCCCGCC:T,KCNH2,VCV001795334,1795334,NM_000238.4(KCNH2):c.2736_2751del (p.Ala913fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1795334,1795334,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947819:tcggccctgcccccgcc:t|deletion,True,False +7:150947836:C:CG,KCNH2,VCV001795320,1795320,NM_000238.4(KCNH2):c.2734dup (p.Arg912fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1795320,1795320,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947836:c:cg|duplication,True,False +7:150947826:TGCCCCCGCCCGGCCCG:T,KCNH2,VCV001795256,1795256,NM_000238.4(KCNH2):c.2729_2744del (p.Pro910fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1795256,1795256,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947826:tgcccccgcccggcccg:t|deletion,True,False +7:150948488:CG:C,KCNH2,VCV001794263,1794263,NM_000238.4(KCNH2):c.2647del (p.Arg883fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1794263,1794263,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948488:cg:c|deletion,True,False +7:150948880:C:CA,KCNH2,VCV001793177,1793177,NM_000238.4(KCNH2):c.2567dup (p.Glu857fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1793177,1793177,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948880:c:ca|duplication,True,False +7:150950189:C:CG,KCNH2,VCV001790360,1790360,NM_000238.4(KCNH2):c.2376dup (p.Asp793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1790360,1790360,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950189:c:cg|duplication,True,False +7:150974788:CG:A,KCNH2,VCV001789092,1789092,NM_000238.4(KCNH2):c.229_230delinsT (p.Arg77fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1789092,1789092,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974788:cg:a|deletion,True,False +7:150950421:C:G,KCNH2,VCV001786650,1786650,NM_000238.4(KCNH2):c.2146-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1786650,1786650,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950421:c:g|snv,True,False +7:150974746:TCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAG:T,KCNH2,VCV001785054,1785054,NM_000238.4(KCNH2):c.205_271del (p.Leu69fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1785054,1785054,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974746:tcctcggcgcccagcagtgcctgcgcgatctgcgcggcagcgcggcgctgcgtgcgcggcccgtgcag:t|deletion,True,False +7:150951106:TAGCAT:A,KCNH2,VCV001783287,1783287,NM_000238.4(KCNH2):c.1955_1960delinsT (p.Tyr652fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1783287,1783287,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951106:tagcat:a|deletion,True,False +7:150951650:TG:T,KCNH2,VCV001779222,1779222,NM_000238.4(KCNH2):c.1742del (p.Ser581fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1779222,1779222,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951650:tg:t|deletion,True,False +7:150951731:CAT:C,KCNH2,VCV001777473,1777473,NM_000238.4(KCNH2):c.1660_1661del (p.Met554fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1777473,1777473,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951731:cat:c|deletion,True,False +7:150952596:C:CA,KCNH2,VCV001771379,1771379,NM_000238.4(KCNH2):c.1385dup (p.Met462fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1771379,1771379,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952596:c:ca|duplication,True,False +7:150957503:C:A,KCNH2,VCV001766052,1766052,NM_000238.4(KCNH2):c.917-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1766052,1766052,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150957503:c:a|snv,True,False +7:150958070:TGGCGCGGTGGCGG:T,KCNH2,VCV001765131,1765131,NM_000238.4(KCNH2):c.892_904del (p.Pro298fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1765131,1765131,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958070:tggcgcggtggcgg:t|deletion,True,False +7:150974931:G:C,KCNH2,VCV001764714,1764714,NM_000238.4(KCNH2):c.87C>G (p.Phe29Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1764714,1764714,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974931:g:c|snv,True,False +7:150958047:CGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCT:C,KCNH2,VCV001762927,1762927,NM_000238.4(KCNH2):c.832_916+11del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1762927,1762927,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958047:cggcgccctcaccggtgctggcgtggcgcggtggcgggggcagcaccccggcgcgcatggcctcgatgtcgtcggccgacgaggcgcggcgcacgct:c|deletion,True,False +7:150958239:C:CG,KCNH2,VCV001758500,1758500,NM_000238.4(KCNH2):c.735dup (p.Gly246fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1758500,1758500,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958239:c:cg|duplication,True,False +7:150958417:G:GC,KCNH2,VCV001748411,1748411,NM_000238.4(KCNH2):c.557dup (p.Gly187fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1748411,1748411,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958417:g:gc|duplication,True,False +7:150959576:GGCCA:G,KCNH2,VCV001742104,1742104,NM_000238.4(KCNH2):c.464_467del (p.Leu155fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1742104,1742104,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150959576:ggcca:g|deletion,True,False +7:150959582:C:T,KCNH2,VCV001742024,1742024,NM_000238.4(KCNH2):c.462G>A (p.Trp154Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1742024,1742024,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150959582:c:t|snv,True,False +7:150959646:AT:A,KCNH2,VCV001736686,1736686,NM_000238.4(KCNH2):c.397del (p.Met133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1736686,1736686,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150959646:at:a|deletion,True,False +7:150947385:CGA:C,KCNH2,VCV001727478,1727478,NM_000238.4(KCNH2):c.3093_3094del (p.Arg1032fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1727478,1727478,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947385:cga:c|deletion,True,False +7:150950163:C:T,KCNH2,VCV001713142,1713142,NM_000238.4(KCNH2):c.2398+5G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1713142,1713142,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950163:c:t|snv,True,False +7:150958105:G:GGCCTC,KCNH2,VCV001711664,1711664,NM_000238.4(KCNH2):c.865_869dup (p.Met291fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1711664,1711664,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958105:g:ggcctc|duplication,True,False +7:150947667:C:CG,KCNH2,VCV001711663,1711663,NM_000238.4(KCNH2):c.2903dup (p.Gly970fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1711663,1711663,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947667:c:cg|duplication,True,False +7:150950365:C:CGGCT,KCNH2,VCV001701539,1701539,NM_000238.4(KCNH2):c.2200_2201insAGCC (p.Arg734fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1701539,1701539,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950365:c:cggct|insertion,True,False +7:150951573:AT:A,KCNH2,VCV001698966,1698966,NM_000238.4(KCNH2):c.1819del (p.Ile607fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1698966,1698966,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951573:at:a|deletion,True,False +7:150974937:AC:A,KCNH2,VCV001683771,1683771,NM_000238.4(KCNH2):c.80del (p.Arg27fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1683771,1683771,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974937:ac:a|deletion,True,False +7:150959644:C:A,KCNH2,VCV001683770,1683770,NM_000238.4(KCNH2):c.400G>T (p.Glu134Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1683770,1683770,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150959644:c:a|snv,True,False +7:150951528:A:T,KCNH2,VCV001676088,1676088,NM_000238.4(KCNH2):c.1865T>A (p.Leu622His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1676088,1676088,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951528:a:t|snv,True,False +7:150951789:ACGCGCACCAGCCGCAGCAGCCG:A,KCNH2,VCV001675096,1675096,NM_000238.4(KCNH2):c.1582_1603del (p.Arg528fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1675096,1675096,Short QT syndrome type 1;Long QT syndrome 2,Short QT syndrome type 1;Long QT syndrome 2,Short QT syndrome type 1;Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS|SQTS,assertion_condition_label,2,1.0,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,7:150951789:acgcgcaccagccgcagcagccg:a|deletion,True,False +7:150947814:G:GCTACTCGGCCCTGCCCCCGCCCGGCC,KCNH2,VCV001527874,1527874,NM_000238.4(KCNH2):c.2731_2756dup (p.Ser919fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1527874,1527874,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947814:g:gctactcggccctgcccccgcccggcc|duplication,True,False +7:150952585:T:G,KCNH2,VCV001527873,1527873,NM_000238.4(KCNH2):c.1397A>C (p.Asp466Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1527873,1527873,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952585:t:g|snv,True,False +7:150977911:C:T,KCNH2,VCV001524546,1524546,NM_000238.4(KCNH2):c.3G>A (p.Met1Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1524546,1524546,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150977911:c:t|snv,True,False +7:150951121:C:G,KCNH2,VCV001521307,1521307,NM_000238.4(KCNH2):c.1946-1G>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1521307,1521307,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951121:c:g|snv,True,False +7:150948959:AGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTG:A,KCNH2,VCV001499958,1499958,NM_000238.4(KCNH2):c.2399-108_2488del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1499958,1499958,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948959:aggtcacagtaggtgagggcccgcacatccccgttcgacttgccaggccttgcatacaggttcagaggctccccaaagatgtcattcttccctggaggccatggagaggacagggagctcagccccggggggcggcatccaggcagcaggcaccttctcccggcatccccaccccgggcagagcatgtcccctcagctg:a|deletion,True,False +7:150957504:T:C,KCNH2,VCV001488212,1488212,NM_000238.4(KCNH2):c.917-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1488212,1488212,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150957504:t:c|snv,True,False +7:150951836:C:G,KCNH2,VCV001473108,1473108,NM_000238.4(KCNH2):c.1558-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1473108,1473108,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951836:c:g|snv,True,False +7:150952693:G:T,KCNH2,VCV001467197,1467197,NM_000238.4(KCNH2):c.1289C>A (p.Ala430Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1467197,1467197,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952693:g:t|snv,True,False +7:150974784:AGCGCGGCGCTGCGT:A,KCNH2,VCV001458718,1458718,NM_000238.4(KCNH2):c.220_233del (p.Thr74fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1458718,1458718,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974784:agcgcggcgctgcgt:a|deletion,True,False +7:150959621:C:CG,KCNH2,VCV001458716,1458716,NM_000238.4(KCNH2):c.422dup (p.Ala142fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1458716,1458716,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150959621:c:cg|duplication,True,False +7:150952677:CTCCTTCA:C,KCNH2,VCV001457690,1457690,NM_000238.4(KCNH2):c.1298_1304del (p.Leu433fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1457690,1457690,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952677:ctccttca:c|deletion,True,False +7:150950952:C:T,KCNH2,VCV001456278,1456278,NM_000238.4(KCNH2):c.2114G>A (p.Trp705Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1456278,1456278,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950952:c:t|snv,True,False +7:150974807:C:CGTGCAGGAAGTCGCAG,KCNH2,VCV001456173,1456173,NM_000238.4(KCNH2):c.195_210dup (p.Gly71fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1456173,1456173,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974807:c:cgtgcaggaagtcgcag|duplication,True,False +7:150949012:A:T,KCNH2,VCV001455507,1455507,NM_000238.4(KCNH2):c.2436T>A (p.Tyr812Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1455507,1455507,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150949012:a:t|snv,True,False +7:150948451:CG:C,KCNH2,VCV001455493,1455493,NM_000238.4(KCNH2):c.2684del (p.Thr895fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1455493,1455493,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948451:cg:c|deletion,True,False +7:150959579:CA:C,KCNH2,VCV001453664,1453664,NM_000238.4(KCNH2):c.464del (p.Leu155fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1453664,1453664,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150959579:ca:c|deletion,True,False +7:150958153:TTCTCGGGAGCGCG:T,KCNH2,VCV001452777,1452777,NM_000238.4(KCNH2):c.809_821del (p.Thr270fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1452777,1452777,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958153:ttctcgggagcgcg:t|deletion,True,False +7:150950944:T:TGTAG,KCNH2,VCV001452601,1452601,NM_000238.4(KCNH2):c.2118_2121dup (p.Thr708fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1452601,1452601,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950944:t:tgtag|duplication,True,False +7:150947392:G:GGC,KCNH2,VCV001452025,1452025,NM_000238.4(KCNH2):c.3086_3087dup (p.Pro1030fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1452025,1452025,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947392:g:ggc|duplication,True,False +7:150948910:AGG:A,KCNH2,VCV001439179,1439179,NM_000238.4(KCNH2):c.2536_2537del (p.Tyr845_Pro846insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1439179,1439179,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948910:agg:a|deletion,True,False +7:150945386:G:GT,KCNH2,VCV001434518,1434518,NM_000238.4(KCNH2):c.3458dup (p.His1153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1434518,1434518,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150945386:g:gt|duplication,True,False +7:150951471:G:T,KCNH2,VCV001424837,1424837,NM_000238.4(KCNH2):c.1922C>A (p.Ser641Tyr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1424837,1424837,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951471:g:t|snv,True,False +7:150947440:GA:G,KCNH2,VCV001422891,1422891,NM_000238.4(KCNH2):c.3039del (p.Arg1014fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1422891,1422891,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947440:ga:g|deletion,True,False +7:150947370:T:TCGCCC,KCNH2,VCV001414553,1414553,NM_000238.4(KCNH2):c.3105_3109dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1414553,1414553,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,7:150947370:t:tcgccc|duplication,True,False +7:150958169:CG:C,KCNH2,VCV001410227,1410227,NM_000238.4(KCNH2):c.805del (p.Arg269fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1410227,1410227,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958169:cg:c|deletion,True,False +7:150948889:C:T,KCNH2,VCV001406991,1406991,NM_000238.4(KCNH2):c.2559G>A (p.Trp853Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1406991,1406991,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948889:c:t|snv,True,False +7:150947629:C:CTGCTCTTCTCG,KCNH2,VCV001398420,1398420,NM_000238.4(KCNH2):c.2931_2941dup (p.Ser981fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1398420,1398420,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947629:c:ctgctcttctcg|duplication,True,False +7:150951763:C:CT,KCNH2,VCV001397577,1397577,NM_000238.4(KCNH2):c.1629dup (p.Glu544fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1397577,1397577,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,7:150951763:c:ct|duplication,True,False +7:150959625:GA:G,KCNH2,VCV001338861,1338861,NM_000238.4(KCNH2):c.418del (p.Ser140fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1338861,1338861,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150959625:ga:g|deletion,True,False +7:150977872:GA:G,KCNH2,VCV001335697,1335697,NM_000238.4(KCNH2):c.41del (p.Phe14fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1335697,1335697,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150977872:ga:g|deletion,True,False +7:150957290:C:T,KCNH2,VCV001334904,1334904,NM_000238.4(KCNH2):c.1128+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1334904,1334904,Prolonged QT interval|Long QT syndrome,Prolonged QT interval|Long QT syndrome,Prolonged QT interval|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150957290:c:t|snv,True,False +7:150977836:A:T,KCNH2,VCV001331098,1331098,NM_000238.4(KCNH2):c.76+2T>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,1331098,1331098,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,,,,unanchored,0.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150977836:a:t|snv,True,False +7:150958185:TGGAGCCCGAGGCGTCG:T,KCNH2,VCV001323136,1323136,NM_000238.4(KCNH2):c.774_789del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1323136,1323136,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958185:tggagcccgaggcgtcg:t|deletion,True,False +7:150951685:C:A,KCNH2,VCV001284270,1284270,NM_000238.4(KCNH2):c.1708G>T (p.Ala570Ser),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1284270,1284270,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951685:c:a|snv,True,False +7:150947796:CC:A,KCNH2,VCV001219815,1219815,NM_000238.4(KCNH2):c.2774_2775delinsT (p.Gly925fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1219815,1219815,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947796:cc:a|deletion,True,False +7:150957460:G:T,KCNH2,VCV001215035,1215035,NM_000238.4(KCNH2):c.959C>A (p.Ser320Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1215035,1215035,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150957460:g:t|snv,True,False +7:150951592:CG:C,KCNH2,VCV001213540,1213540,NM_000238.4(KCNH2):c.1800del (p.Ser600fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1213540,1213540,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951592:cg:c|deletion,True,False +7:150977836:A:AC,KCNH2,VCV001211558,1211558,NM_000238.4(KCNH2):c.76+1dup,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1211558,1211558,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150977836:a:ac|duplication,True,False +7:150958394:ACGGCCCCCGGGGCGCCCGCGCCGCCCGC:CCCGGT,KCNH2,VCV001202184,1202184,NM_000238.4(KCNH2):c.553_581delinsACCGGG (p.Ala185fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1202184,1202184,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958394:acggcccccggggcgcccgcgccgcccgc:cccggt|deletion,True,False +7:150950957:GT:G,KCNH2,VCV001201653,1201653,NM_000238.4(KCNH2):c.2108del (p.His703fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1201653,1201653,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950957:gt:g|deletion,True,False +7:150947447:CT:C,KCNH2,VCV001191999,1191999,NM_000238.4(KCNH2):c.3032del (p.Glu1011fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1191999,1191999,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947447:ct:c|deletion,True,False +7:150951535:T:C,KCNH2,VCV001189275,1189275,NM_000238.4(KCNH2):c.1858A>G (p.Ser620Gly),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1189275,1189275,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951535:t:c|snv,True,False +7:150952557:G:T,KCNH2,VCV001178326,1178326,NM_000238.4(KCNH2):c.1425C>A (p.Tyr475Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1178326,1178326,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952557:g:t|snv,True,False +7:150950421:C:T,KCNH2,VCV001163877,1163877,NM_000238.4(KCNH2):c.2146-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1163877,1163877,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950421:c:t|snv,True,False +7:150947611:A:AG,KCNH2,VCV001098796,1098796,NM_000238.4(KCNH2):c.2959dup (p.Leu987fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1098796,1098796,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947611:a:ag|duplication,True,False +7:150948450:C:CCGTG,KCNH2,VCV001076538,1076538,NM_000238.4(KCNH2):c.2682_2685dup (p.Asp896fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1076538,1076538,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948450:c:ccgtg|duplication,True,False +7:150946951:G:GC,KCNH2,VCV001076264,1076264,NM_000238.4(KCNH2):c.3255dup (p.Pro1086fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1076264,1076264,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150946951:g:gc|duplication,True,False +7:150947371:CGCCCCGGG:C,KCNH2,VCV001074304,1074304,NM_000238.4(KCNH2):c.3101_3108del (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1074304,1074304,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947371:cgccccggg:c|deletion,True,False +7:150947639:C:CGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCCTCCAG,KCNH2,VCV001073738,1073738,NM_000238.4(KCNH2):c.2931_2932insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu978fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1073738,1073738,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947639:c:cgcagtcctccatcaggggctccccacccggcggctctccggggggcctggggctggagaagggcctccag|insertion,True,False +7:150957462:GGT:G,KCNH2,VCV001072804,1072804,NM_000238.4(KCNH2):c.955_956del (p.Thr319fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1072804,1072804,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150957462:ggt:g|deletion,True,False +7:150948455:C:CGCCTG,KCNH2,VCV001072580,1072580,NM_000238.4(KCNH2):c.2676_2680dup (p.Arg894fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1072580,1072580,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948455:c:cgcctg|duplication,True,False +7:150947373:C:CCCCGGGGCCG,KCNH2,VCV001072040,1072040,NM_000238.4(KCNH2):c.3097_3106dup (p.Gly1036fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1072040,1072040,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947373:c:ccccggggccg|duplication,True,False +7:150951681:A:ATGGCG,KCNH2,VCV001070567,1070567,NM_000238.4(KCNH2):c.1707_1711dup (p.Ile571fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1070567,1070567,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951681:a:atggcg|duplication,True,False +7:150947380:GCCGCCGACCCGGGC:G,KCNH2,VCV001070541,1070541,NM_000238.4(KCNH2):c.3086_3099del (p.Ser1029fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1070541,1070541,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947380:gccgccgacccgggc:g|deletion,True,False +7:150974775:CTGCGCGGCAGCGCGGCGCTGCG:C,KCNH2,VCV001070208,1070208,NM_000238.4(KCNH2):c.221_242del (p.Thr74fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1070208,1070208,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974775:ctgcgcggcagcgcggcgctgcg:c|deletion,True,False +7:150958418:CCCGCGCCGCCCGA:C,KCNH2,VCV001069329,1069329,NM_000238.4(KCNH2):c.544_556del (p.Ser182fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1069329,1069329,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958418:cccgcgccgcccga:c|deletion,True,False +7:150952509:GACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGT:G,KCNH2,VCV001069284,1069284,NM_000238.4(KCNH2):c.1420_1472del (p.Thr474fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1069284,1069284,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952509:gacggcgatgcggccggggtggctgaccacctcctcgttggcattgacgtaggt:g|deletion,True,False +7:150948892:GA:G,KCNH2,VCV001068978,1068978,NM_000238.4(KCNH2):c.2555del (p.Phe852fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1068978,1068978,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948892:ga:g|deletion,True,False +7:150951565:T:C,KCNH2,VCV001066309,1066309,NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1066309,1066309,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951565:t:c|snv,True,False +7:150957276:CCGCTGGGCGC:GT,KCNH2,VCV001064627,1064627,NM_000238.4(KCNH2):c.1128+5_1128+15delinsAC,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1064627,1064627,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150957276:ccgctgggcgc:gt|deletion,True,False +7:150949076:CT:C,KCNH2,VCV001064605,1064605,NM_000238.4(KCNH2):c.2399-28del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1064605,1064605,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150949076:ct:c|deletion,True,False +7:150951562:ACTTGTC:A,KCNH2,VCV001058879,1058879,NM_000238.4(KCNH2):c.1825_1830del (p.Asp609_Lys610del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1058879,1058879,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951562:acttgtc:a|deletion,True,False +7:150951496:T:G,KCNH2,VCV001001814,1001814,NM_000238.4(KCNH2):c.1897A>C (p.Asn633His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1001814,1001814,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951496:t:g|snv,True,False +7:150947162:GGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCC:G,KCNH2,VCV000992792,992792,NM_000238.4(KCNH2):c.2692+167_3153-109del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,992792,992792,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947162:ggccctccgcgctagaggtgtggcagcccccagctgggctaggaatggaagaaggggatccagctgctgcacacacagacaggccctctccctctaccagacaacaccgccaggacctggaccagactccagggcgtgcccccccaccccacctgcactccctcacctgttgagctggcgctggagggcatccagcctgctctccacgtcgccccggggccgccgacccgggctggagagggggatgttgaggaggctgggggtgggggcggggcatcgagggagctcctggtactggcggccccgactgtccccccagaagctgaaaatgttggacactcctgagaaggcgcctgcagccagagagcagagctgggtgagcggggtagacgcaccaccgctgccacgcccggtcctccctcgcccgcccgtcgcccgggatacctgacagggggttgcaagtgtcgctgctcttctcgcagtcctccatcaggggctccccacccggcggctctccggggggcctggggctggagaagggcaccaggcggagggggctggagctgcggcctgggccctcatcctcactgctctcagggctggaggggccactggacgggctctccccccacggcccccccggccggccccggctactcggccctgcccccgcccggcccggccccaaggccgacacctcccctggctgctccgtgtctgtgggaaacagagaatgggcctcagagaggggaggagaacagagaggagggggcgagggtggaggaggggacaggagcgagcccgagagaggactgggcaggaagccctggtttgtccccagtcgcttcttctgctatcttgcacccactgtcaagccgaccaagaactcccaggaccccctgactgcccaagcactggcaatggtgcttcaggggttggcggatctctgggactgcggggcctcagccccatcgttggctccctggccctcctttgttctatgttctttcctcctcagtgctcacagagaccccagccctgtgaagtccaaaaagcctaggcttgccctggagggtggaagagggcttcctggaggaggtgacagctgcaggggcc:g|deletion,True,False +7:150948459:TG:T,KCNH2,VCV000983076,983076,NM_000238.4(KCNH2):c.2676del (p.Arg893fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,983076,983076,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948459:tg:t|deletion,True,False +7:150951098:GA:G,KCNH2,VCV000979201,979201,NM_000238.4(KCNH2):c.1967del (p.Phe656fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,979201,979201,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951098:ga:g|deletion,True,False +7:150950221:A:G,KCNH2,VCV000977169,977169,NM_000238.4(KCNH2):c.2345T>C (p.Ile782Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,977169,977169,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950221:a:g|snv,True,False +7:150951484:C:A,KCNH2,VCV000977166,977166,NM_000238.4(KCNH2):c.1909G>T (p.Glu637Ter),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,977166,977166,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951484:c:a|snv,True,False +7:150952753:C:T,KCNH2,VCV000972695,972695,NM_000238.4(KCNH2):c.1229G>A (p.Trp410Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,972695,972695,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952753:c:t|snv,True,False +7:150974872:C:A,KCNH2,VCV000972694,972694,NM_000238.4(KCNH2):c.146G>T (p.Cys49Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,972694,972694,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974872:c:a|snv,True,False +7:150957416:G:A,KCNH2,VCV000968402,968402,NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,968402,968402,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150957416:g:a|snv,True,False +7:150958161:AGC:A,KCNH2,VCV000960485,960485,NM_000238.4(KCNH2):c.812_813del (p.Arg271fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,960485,960485,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958161:agc:a|deletion,True,False +7:150951646:T:TGC,KCNH2,VCV000958799,958799,NM_000238.4(KCNH2):c.1745_1746dup (p.Ile583fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,958799,958799,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951646:t:tgc|duplication,True,False +7:150957391:AG:A,KCNH2,VCV000956361,956361,NM_000238.4(KCNH2):c.1027del (p.Leu343fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,956361,956361,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150957391:ag:a|deletion,True,False +7:150958266:GAC:G,KCNH2,VCV000955885,955885,NM_000238.4(KCNH2):c.707_708del (p.Gly236fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,955885,955885,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958266:gac:g|deletion,True,False +7:150947800:C:CCCGG,KCNH2,VCV000949692,949692,NM_000238.4(KCNH2):c.2767_2770dup (p.Gly924fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,949692,949692,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947800:c:cccgg|duplication,True,False +7:150947367:A:ACGTCG,KCNH2,VCV000947666,947666,NM_000238.4(KCNH2):c.3108_3112dup (p.Val1038fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,947666,947666,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947367:a:acgtcg|duplication,True,False +7:150947610:CA:C,KCNH2,VCV000943648,943648,NM_000238.4(KCNH2):c.2960del (p.Leu987fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,943648,943648,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947610:ca:c|deletion,True,False +7:150951705:C:T,KCNH2,VCV000943351,943351,NM_000238.4(KCNH2):c.1688G>A (p.Trp563Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,943351,943351,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951705:c:t|snv,True,False +7:150951097:CG:AA,KCNH2,VCV000943187,943187,NM_000238.4(KCNH2):c.1968_1969delinsTT (p.Gly657Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,943187,943187,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951097:cg:aa|mnv_or_substitution,True,False +7:150951076:GGATGATGGCCGACACGTTGCCGAA:G,KCNH2,VCV000941189,941189,NM_000238.4(KCNH2):c.1966_1989del (p.Phe656_Ile663del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,941189,941189,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951076:ggatgatggccgacacgttgccgaa:g|deletion,True,False +7:150952784:TG:T,KCNH2,VCV000939419,939419,NM_000238.4(KCNH2):c.1197del (p.Ile400fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,939419,939419,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952784:tg:t|deletion,True,False +7:150948478:CTTGCG:C,KCNH2,VCV000937320,937320,NM_000238.4(KCNH2):c.2653_2657del (p.Arg885fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,937320,937320,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948478:cttgcg:c|deletion,True,False +7:150950279:CAT:C,KCNH2,VCV000937182,937182,NM_000238.4(KCNH2):c.2285_2286del (p.His762fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,937182,937182,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950279:cat:c|deletion,True,False +7:150951117:AGGGCTGG:A,KCNH2,VCV000936138,936138,NM_000238.4(KCNH2):c.1946-4_1948del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,936138,936138,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951117:agggctgg:a|deletion,True,False +7:150958070:TG:T,KCNH2,VCV000934348,934348,NM_000238.4(KCNH2):c.904del (p.His302fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,934348,934348,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958070:tg:t|deletion,True,False +7:150947373:CCCCGGGG:GCC,KCNH2,VCV000928528,928528,NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,928528,928528,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947373:ccccgggg:gcc|deletion,True,False +7:150947517:G:C,KCNH2,VCV000871784,871784,NM_000238.4(KCNH2):c.2966-3C>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,871784,871784,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947517:g:c|snv,True,False +7:150974923:G:A,KCNH2,VCV000869439,869439,NM_000238.4(KCNH2):c.95C>T (p.Ala32Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,869439,869439,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974923:g:a|snv,True,False +7:150951460:T:G,KCNH2,VCV000869431,869431,NM_000238.4(KCNH2):c.1933A>C (p.Met645Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,869431,869431,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951460:t:g|snv,True,False +7:150974820:G:T,KCNH2,VCV000863419,863419,NM_000238.4(KCNH2):c.198C>A (p.Cys66Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,863419,863419,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974820:g:t|snv,True,False +7:150957305:C:CAG,KCNH2,VCV000858246,858246,NM_000238.4(KCNH2):c.1112_1113dup (p.Glu372fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,858246,858246,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150957305:c:cag|duplication,True,False +7:150974807:C:A,KCNH2,VCV000853484,853484,NM_000238.4(KCNH2):c.211G>T (p.Gly71Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,853484,853484,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974807:c:a|snv,True,False +7:150951814:CA:C,KCNH2,VCV000851169,851169,NM_000238.4(KCNH2):c.1578del (p.Ala527fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,851169,851169,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951814:ca:c|deletion,True,False +7:150958467:G:GC,KCNH2,VCV000850821,850821,NM_000238.4(KCNH2):c.507dup (p.Leu170fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,850821,850821,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958467:g:gc|duplication,True,False +7:150948492:TGAAGCCACCC:T,KCNH2,VCV000846538,846538,NM_000238.4(KCNH2):c.2634_2643del (p.Gly879fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,846538,846538,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948492:tgaagccaccc:t|deletion,True,False +7:150958194:AGGCGTCG:A,KCNH2,VCV000835590,835590,NM_000238.4(KCNH2):c.774_780del (p.Asp259fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,835590,835590,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958194:aggcgtcg:a|deletion,True,False +7:150957316:TG:T,KCNH2,VCV000818076,818076,NM_000238.4(KCNH2):c.1102del (p.His368fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,818076,818076,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150957316:tg:t|deletion,True,False +7:150947784:C:CTCCCCCCA,KCNH2,VCV000817961,817961,NM_000238.4(KCNH2):c.2779_2786dup (p.Glu929fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,817961,817961,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947784:c:ctcccccca|duplication,True,False +7:150947343:TGGAG:T,KCNH2,VCV000817602,817602,NM_000238.4(KCNH2):c.3133_3136del (p.Leu1045fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,817602,817602,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947343:tggag:t|deletion,True,False +7:150952564:G:A,KCNH2,VCV000811073,811073,NM_000238.4(KCNH2):c.1418C>T (p.Thr473Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,811073,811073,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952564:g:a|snv,True,False +7:150952423:A:G,KCNH2,VCV000695023,695023,NM_000238.4(KCNH2):c.1557+2T>C,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,695023,695023,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952423:a:g|snv,True,False +7:150974767:TGCGCGATCTGCGCGGCAGC:T,KCNH2,VCV000692260,692260,NM_000238.4(KCNH2):c.232_250del (p.Ala78fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,692260,692260,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974767:tgcgcgatctgcgcggcagc:t|deletion,True,False +7:150948519:C:CG,KCNH2,VCV000692259,692259,NM_000238.4(KCNH2):c.2616dup (p.Gly873fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,692259,692259,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948519:c:cg|duplication,True,False +7:150947377:G:GGGGC,KCNH2,VCV000692257,692257,NM_000238.4(KCNH2):c.3099_3102dup (p.Arg1035fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,692257,692257,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947377:g:ggggc|duplication,True,False +7:150951082:TG:T,KCNH2,VCV000667408,667408,NM_000238.4(KCNH2):c.1983del (p.Ile662fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,667408,667408,Congenital long QT syndrome|Long QT syndrome,Congenital long QT syndrome|Long QT syndrome,Congenital long QT syndrome|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951082:tg:t|deletion,True,False +7:150948446:T:GTGTCG,KCNH2,VCV000663923,663923,NM_000238.4(KCNH2):c.2690delinsCGACAC (p.Lys897fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,663923,663923,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948446:t:gtgtcg|insertion,True,False +7:150974871:GC:TT,KCNH2,VCV000663471,663471,NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,663471,663471,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974871:gc:tt|mnv_or_substitution,True,False +7:150947039:C:CA,KCNH2,VCV000660047,660047,NM_000238.4(KCNH2):c.3167dup (p.Ser1057fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,660047,660047,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947039:c:ca|duplication,True,False +7:150946975:AGGCGGGC:A,KCNH2,VCV000657779,657779,NM_000238.4(KCNH2):c.3225_3231del (p.Pro1076fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,657779,657779,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150946975:aggcgggc:a|deletion,True,False +7:150952602:GT:G,KCNH2,VCV000652241,652241,NM_000238.4(KCNH2):c.1379del (p.Asp460fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,652241,652241,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952602:gt:g|deletion,True,False +7:150951738:A:T,KCNH2,VCV000648088,648088,NM_000238.4(KCNH2):c.1655T>A (p.Leu552Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,648088,648088,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951738:a:t|snv,True,False +7:150974933:AC:A,KCNH2,VCV000645394,645394,NM_000238.4(KCNH2):c.84del (p.Lys28fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,645394,645394,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974933:ac:a|deletion,True,False +7:150974767:T:TGCGCGATCTGCGCGGCA,KCNH2,VCV000641517,641517,NM_000238.4(KCNH2):c.234_250dup (p.Gln84fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,641517,641517,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974767:t:tgcgcgatctgcgcggca|duplication,True,False +7:150950308:GC:G,KCNH2,VCV000640022,640022,NM_000238.4(KCNH2):c.2257del (p.Ala753fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,640022,640022,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950308:gc:g|deletion,True,False +7:150947371:C:CG,KCNH2,VCV000637977,637977,NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,637977,637977,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947371:c:cg|duplication,True,False +7:150952842:CA:C,KCNH2,VCV000632866,632866,NM_000238.4(KCNH2):c.1139del (p.Leu380fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,632866,632866,Long QT syndrome|Long QT syndrome 2||Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2||Cardiovascular phenotype,Long QT syndrome|Long QT syndrome 2||Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952842:ca:c|deletion,True,False +7:150951063:G:T,KCNH2,VCV000620172,620172,NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,620172,620172,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,Cardiac arrhythmia|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,7:150951063:g:t|snv,True,False +7:150952634:G:A,KCNH2,VCV000620154,620154,NM_000238.4(KCNH2):c.1348C>T (p.Gln450Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,620154,620154,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952634:g:a|snv,True,False +7:150951520:C:G,KCNH2,VCV000618184,618184,NM_000238.4(KCNH2):c.1873G>C (p.Val625Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,618184,618184,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951520:c:g|snv,True,False +7:150947865:TG:T,KCNH2,VCV000598783,598783,NM_000238.4(KCNH2):c.2705del (p.Pro902fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,598783,598783,Long QT syndrome 2|Cardiovascular phenotype|Long QT syndrome,Long QT syndrome 2|Cardiovascular phenotype|Long QT syndrome,Long QT syndrome 2|Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947865:tg:t|deletion,True,False +7:150958047:CGGCGCCCTCACCGGTGCT:C,KCNH2,VCV000582292,582292,NM_000238.4(KCNH2):c.910_916+11del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,582292,582292,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958047:cggcgccctcaccggtgct:c|deletion,True,False +7:150951638:C:G,KCNH2,VCV000581669,581669,NM_000238.4(KCNH2):c.1755G>C (p.Trp585Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,581669,581669,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951638:c:g|snv,True,False +7:150977836:ACT:A,KCNH2,VCV000579489,579489,NM_000238.4(KCNH2):c.76_76+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,579489,579489,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150977836:act:a|deletion,True,False +7:150951702:A:T,KCNH2,VCV000572344,572344,NM_000238.4(KCNH2):c.1691T>A (p.Leu564Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,572344,572344,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951702:a:t|snv,True,False +7:150947370:T:TCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGG,KCNH2,VCV000570715,570715,NM_000238.4(KCNH2):c.1129-831_3109dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,570715,570715,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947370:t:tcgccccggggccgccgacccgggctggagagggggatgttgaggaggctgggggtgggggcggggcatcgagggagctcctggtactggcggccccgactgtccccccagaagctgaaaatgttggacactcctgagaaggcgcctgcagccagagagcagagctgggtgagcggggtagacgcaccaccgctgccacgcccggtcctccctcgcccgcccgtcgcccgggatacctgacagggggttgcaagtgtcgctgctcttctcgcagtcctccatcaggggctccccacccggcggctctccggggggcctggggctggagaagggcaccaggcggagggggctggagctgcggcctgggccctcatcctcactgctctcagggctggaggggccactggacgggctctccccccacggcccccccggccggccccggctactcggccctgcccccgcccggcccggccccaaggccgacacctcccctggctgctccgtgtctgtgggaaacagagaatgggcctcagagaggggaggagaacagagaggagggggcgagggtggaggaggggacaggagcgagcccgagagaggactgggcaggaagccctggtttgtccccagtcgcttcttctgctatcttgcacccactgtcaagccgaccaagaactcccaggaccccctgactgcccaagcactggcaatggtgcttcaggggttggcggatctctgggactgcggggcctcagccccatcgttggctccctggccctcctttgttctatgttctttcctcctcagtgctcacagagaccccagccctgtgaagtccaaaaagcctaggcttgccctggagggtggaagagggcttcctggaggaggtgacagctgcaggggccctgaaagatgggcagcatctggacagctggggtgtggagtgggcacactggaggaagggatgggaaggtctgaggcctgggtaaagcagacacggcccaccccgccttccagctcccagcctcaccttgtccccgccctcccccttcctcccctcccccgcctcacccttgtccgtgcgcctgcggaaggacaacttgcgcttgcgttgccgactgaagccaccctctaactccgtactgccgggggagcccgggatcatgttggtctggaaccaaaatcagtatcagggccctttcagtgctctcctgccccaccggggtcaggccccaagctccctccttaacacagaaaaagtagggctgggcgccccagctctgggaaaacccttccctgcccccaatgtgattttgccccaggcaaagactgagtttgggacttttgtaggctgctctatgataccatttgacagacagggaaactgagacagagaagcatcacattcaatgtcacacagcaaaggggcagccacacagctggaagcaggaggatggggtccagctcagggcagccaactcacatctcgcaggttgaaggtgatctccaggctggaccagaagtggtcggagaactcagggtacatgtccagcacctccagcaggtcgtcccgatggatcttgtgtaggtcacagtaggtgagggcccgcacatccccgttcgacttgccaggccttgcatacaggttcagaggctccccaaagatgtcattcttccctggaggccatggagaggacagggagctcagccccggggggcggcatccaggcagcaggcaccttctcccggcatccccaccccgggcagagcatgtcccctcagctgggtcgcctgccagccggcccccaacccacacaaccggggaagcaatctgccagcccaccctccctcagctcccagcaggcacgacagtgccagaggggccaggagcccagggtctcccagcaaatgagacccagccagcaggactaccccaaaccccaggtcccaaacaccctcttagccaatcactgcacccttataagcaatgttcttcaaaccaaagatcagaacacagtagtgaatcaaaaccagcatttttttttttttttttttttttttactgaaagaacatacagtagtatagcttagcacagcacagaacagaaatgctagaatgaaccacatgcagtaaggcccagtgttatgtagtgaaactttgattttagttttgtgggggtgtgtatttgtgtttgtacagagctgagaaacaaagtctaaaatgtcctaccatcaactatggtcgaaagagcttgctatatctgccctgaggcacacagggccgagggaaggacaggcaaagggggaggaagtcctcagtgtccagacacaccaacccacccactgtgcacaggcagggtagaaaggaagtggggggagggggcaggactccctttgctttggatgtgtcaaggggccaggcatgaggctgcagggaaccacatggcccttagtgaaaccaaatgccgagcttccaggctagcatttcttcctctactgcccaggctagaggatctagatttgatcctactttaaggaagcaaaaagtgtctgtttgtggcggatcctgaagggaaggagaatgtgggaaccccagagttcagcagcctcaccccacgtggggctcctctccatggccccgcttggagggcctgagtttaggtgaattaaaggagcccagtgaccctgcaggcagtcccaggtccacagccccagtgactgcatattcagaaggctcgcacctcttgaggctgcagagggcatttccagtccagtgcccgccccccaccccatacccaggatggccacgacgacgtcgccccgcaggatctcgatggagccccgggagatgaagtacagggcggtgagcaggtccccagcatgcaccagtgtgtcccctggcggtgcatgtgtggtcttgaacttcatggccagggcccgaaggcagcccttggtggcccctcggaagggtttgcagtgctgcagcagtgagcggttcaggtgcaggcagatgtcagcctgcaggcactcagggaagcccttcagcacctgggggcagggtgggggcagctcagcacaccctcccttgggaccccccaacccacactctactccaccatcccacccctccatgtcagagaaatctcaacctccaggcctgggagatctcggaagcatcagggggcccagtgtcttgggaaggacctgggaccccactccagcttcaccatgcctggccgagcacccttgggctctagacctccatgttcttatttgtaaggcatagagaccattcccgccctgggctgtcacaaggatttaaccccatcgcctatgtgacatatacctcccaccccaaaaggggagctctccagggaaggggttccaagggcttccatttcctcatgggcaaaaaggggcaacgtgcctccagggtccttactactgactgtgaccgcctgagacttgtttgctgtgccaagaggttcccctctgccaccccactcttcccagcctgccacccactggccacgctctggtggcctcaccgcgttcatgtcgatgccgttggtgtaggaccaggcgtgctggaagtactcctcgaggcgctggcgcaggggattggggatctggtggaagcggatgaactcccgcacccgcagcatctgtgtgtggtagcgggctgtgcccgagtacagccgctggatgatggccgacacgttgccgaagatgctagcatacatgagggctgggggcgtgggcacgtggggccgtcagcctctgcagggaccccacccacccacagggaccctgctcaggccccgcaccaggtcagtgtctcagtctcagcgtcgacatgcccacgagacgcccttgtacatctgcgctccagcacaccccacccttcagtagtccccgccctggtgacccagcccccaaaccatgtcacgatggtggcccctggagtctctaagttccagggcctcactctggcccggctagcagcctcagtttcctccaacttgggttcctccaccgtgggctctccccgccgcccgcccctgggcacactcacagccaatgagcatgacgcagatggagaagatcttctctgagttggtgttgggagagacgttgccgaagcccacactggtgaggctgctgaaggtgaagtagagcgccgtcacatacttgtccttgatggaggggccgcccaggccgctgctgttgtagggtttgcctatctggtcgcccaggttgtgcagccagccgatgcgtgagtccatgtgtggctgctccatgttgccgatggcgtaccagatgcaggctagccagtgcgcgatgagcgcaaaggtgcacatgagcaagaacagcacggccgcgccgtactctgagtagcgatccagcttccgcgccacgcgcaccagccgcagcagccgcgcagtcttcagcagcccgatcagctgggggacagggaaggggcacattccgttgatggggcaaggggggcaagggaggaggggaggtgctgcggccctcagagcgagcatcagaggtcagatccccaaagacttcctagaccctcctcctaagaggtgaagcccacactgggcccagcacaggtgtctcattaatcttagtgctagctttgggacagaggcagcccccatagtgtggatgaggaaacaggggcactgacaggtgcagtgatcaccctagggtgcctgcccactcccaccagcttctagggcactttggtgacgctacaaaataatggccccttgggatggacgaattagaaaaaaaggtgtcctgtgtggccctctgcaacctgcgaggagcttgtgtggagagaaggagcataggtttgctggggtacccaccttgcctctgcagctgccttgccaccatgtctctctcccactgtctttctctctttctctctctctctctttttctctgtcctcctcgccaccccctccaccccactacctcccaccacattcctggcctctcctctccctacaccacctgcctccttgctgaccccacctcctcagagccagagccgaagatgagcaggtcgaaggggatggcggccaccatgtcgatgaggaaccagcccttgaagtagtggacggcgatgcggccggggtggctgaccacctcctcgttggcattgacgtaggtggtgcggaagttgatgaggatgtccacaatgaacatgatgtccacgatgaggtccaccacagccagcggctggcaggcgtagccacactcggtagcaggcgggccttcttccgtctccttcagcaggaaggcagccgagtagggtgtgaagacagccgtgtagatgaccagcagcaggatgagccagtcccacacggccttgaaggggctgtaatgcaggatggtccagcggtggatgcgcggtgcctgcagcttgtactcaggcagcacgtcggcgcccagggacaggacctgcacccggggaaggcggaggtgtgggtgaggcaggccatgggacctcgggggcaggagcgatgacatctctgccggggccaagcagaatgaggaggaggccaaaaaaagcttccatcagaatgcccacccctcagccaagcgaccacagcaaatggccacccccaggtttgggcatcatggttcccaaaatgccacacagcacaggactggctccaaacagttccaacatttcccggcagacgtggattcaggccactcggcaggaacacccagtgctgctccccgccggcaatgcagatgcagacctgccactgtgactgccctgagacgctggcccacacacccaaccacacacgccatagtctcagaccggaaagggttccaaggacaacagctcccaacctgggcagtggccccaggagccatagccccaatccactgactggtagtcactgcagttcttaccagcccctcttcatgccacaggcccgaggacaccaggcaaccaggatggagaaagaccaagacactcccaccctccactcgcacacctcgctccctcagccccctctccacacaggtccgggacagcccacagtcctcatcctcccaccctcttacaaagggacaaagaagacatagcccagctgggaggagatggcacccaacttatacagagggacgtgcacacagggactgctcagcagtgacacacacagcccctgtaccagctcacactcacactctgcctcctccacagtcatcagacagaggcaggctggccatccggacccggtgacagcaggcacgtccctcttgctcccaagg|duplication,True,False +7:150951499:GAGAGACGTTG:CTTCA,KCNH2,VCV000570494,570494,NM_000238.4(KCNH2):c.1884_1894delinsTGAAG (p.Asn629_Pro632delinsGluAla),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,570494,570494,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951499:gagagacgttg:cttca|deletion,True,False +7:150947640:G:T,KCNH2,VCV000568003,568003,NM_000238.4(KCNH2):c.2931C>A (p.Cys977Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,568003,568003,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947640:g:t|snv,True,False +7:150952848:CAG:C,KCNH2,VCV000565724,565724,NM_000238.4(KCNH2):c.1132_1133del (p.Leu378fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,565724,565724,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952848:cag:c|deletion,True,False +7:150951545:G:C,KCNH2,VCV000560696,560696,NM_000238.4(KCNH2):c.1848C>G (p.Tyr616Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,560696,560696,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951545:g:c|snv,True,False +7:150947391:GG:CGGGAGACCC,KCNH2,VCV000545950,545950,NM_000238.4(KCNH2):c.3088_3089delinsGGGTCTCCCG (p.Pro1030fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,545950,545950,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947391:gg:cgggagaccc|insertion,True,False +7:150959573:TG:T,KCNH2,VCV000526969,526969,NM_000238.4(KCNH2):c.470del (p.Pro157fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,526969,526969,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150959573:tg:t|deletion,True,False +7:150951704:C:T,KCNH2,VCV000526968,526968,NM_000238.4(KCNH2):c.1689G>A (p.Trp563Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,526968,526968,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951704:c:t|snv,True,False +7:150947832:CGCCCG:C,KCNH2,VCV000526939,526939,NM_000238.4(KCNH2):c.2734_2738del (p.Arg912fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526939,526939,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947832:cgcccg:c|deletion,True,False +7:150977847:C:CA,KCNH2,VCV000526932,526932,NM_000238.4(KCNH2):c.66dup (p.Glu23Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526932,526932,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150977847:c:ca|duplication,True,False +7:150958438:CGACGACTCCCGGGCCGTCAGCGCCA:C,KCNH2,VCV000526925,526925,NM_000238.4(KCNH2):c.512_536del (p.Leu171fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526925,526925,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958438:cgacgactcccgggccgtcagcgcca:c|deletion,True,False +7:150948478:C:CT,KCNH2,VCV000526908,526908,NM_000238.4(KCNH2):c.2657dup (p.Arg887fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,526908,526908,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948478:c:ct|duplication,True,False +7:150958423:G:GCCGCCCGA,KCNH2,VCV000524038,524038,NM_000238.4(KCNH2):c.544_551dup (p.Ala185fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,524038,524038,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958423:g:gccgcccga|duplication,True,False +7:150947372:G:GCCCCGGGGCCGCC,KCNH2,VCV000523953,523953,NM_000238.4(KCNH2):c.3095_3107dup (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,523953,523953,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947372:g:gccccggggccgcc|duplication,True,False +7:150945390:CTG:C,KCNH2,VCV000523712,523712,NM_000238.4(KCNH2):c.3453_3454del (p.His1151fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,523712,523712,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150945390:ctg:c|deletion,True,False +7:150958430:G:GACCGCACC,KCNH2,VCV000523697,523697,NM_000238.4(KCNH2):c.537_544dup (p.Ser182fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,523697,523697,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958430:g:gaccgcacc|duplication,True,False +7:150974926:A:T,KCNH2,VCV000520423,520423,NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,520423,520423,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974926:a:t|snv,True,False +7:150951772:GA:G,KCNH2,VCV000519551,519551,NM_000238.4(KCNH2):c.1620del (p.Arg541fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519551,519551,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951772:ga:g|deletion,True,False +7:150947014:G:A,KCNH2,VCV000519524,519524,NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519524,519524,Cardiovascular phenotype|Long QT syndrome|Short QT syndrome type 1;Long QT syndrome 2,Cardiovascular phenotype|Long QT syndrome|Short QT syndrome type 1;Long QT syndrome 2,Cardiovascular phenotype|Long QT syndrome|Short QT syndrome type 1;Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS|SQTS,assertion_condition_label,2,1.0,LQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,7:150947014:g:a|snv,True,False +7:150947798:CCCCCGGCCGG:C,KCNH2,VCV000519509,519509,NM_000238.4(KCNH2):c.2763_2772del (p.Arg922fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519509,519509,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947798:cccccggccgg:c|deletion,True,False +7:150974856:G:C,KCNH2,VCV000519501,519501,NM_000238.4(KCNH2):c.162C>G (p.Tyr54Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519501,519501,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974856:g:c|snv,True,False +7:150950329:GC:G,KCNH2,VCV000519473,519473,NM_000238.4(KCNH2):c.2236del (p.Ala746fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519473,519473,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950329:gc:g|deletion,True,False +7:150952691:A:G,KCNH2,VCV000519399,519399,NM_000238.4(KCNH2):c.1291T>C (p.Phe431Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519399,519399,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952691:a:g|snv,True,False +7:150948449:TCCGTGCG:T,KCNH2,VCV000519378,519378,NM_000238.4(KCNH2):c.2680_2686del (p.Arg894fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519378,519378,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948449:tccgtgcg:t|deletion,True,False +7:150947386:G:GACCC,KCNH2,VCV000519348,519348,NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519348,519348,Cardiovascular phenotype||Long QT syndrome,Cardiovascular phenotype||Long QT syndrome,Cardiovascular phenotype||Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947386:g:gaccc|duplication,True,False +7:150951504:AC:A,KCNH2,VCV000519330,519330,NM_000238.4(KCNH2):c.1888del (p.Val630fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519330,519330,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951504:ac:a|deletion,True,False +7:150958163:C:CT,KCNH2,VCV000519329,519329,NM_000238.4(KCNH2):c.811_812insA (p.Arg271fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519329,519329,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958163:c:ct|insertion,True,False +7:150947377:GGGGCCGCCGACCC:G,KCNH2,VCV000519327,519327,NM_000238.4(KCNH2):c.3090_3102del (p.Arg1032fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519327,519327,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947377:ggggccgccgaccc:g|deletion,True,False +7:150958167:TCCG:ACT,KCNH2,VCV000519255,519255,NM_000238.4(KCNH2):c.805_808delinsAGT (p.Arg269fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519255,519255,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958167:tccg:act|deletion,True,False +7:150958064:C:CTGGCG,KCNH2,VCV000519237,519237,NM_000238.4(KCNH2):c.906_910dup (p.Ser304fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519237,519237,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958064:c:ctggcg|duplication,True,False +7:150948996:ACTTGCCAGGC:A,KCNH2,VCV000519234,519234,NM_000238.4(KCNH2):c.2442_2451del (p.Arg814fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519234,519234,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948996:acttgccaggc:a|deletion,True,False +7:150946876:C:T,KCNH2,VCV000519217,519217,NM_000238.4(KCNH2):c.3330+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519217,519217,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150946876:c:t|snv,True,False +7:150974710:CC:AA,KCNH2,VCV000519204,519204,NM_000238.4(KCNH2):c.307_307+1delinsTT,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519204,519204,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974710:cc:aa|mnv_or_substitution,True,False +7:150951537:AAGGTGAAGT:A,KCNH2,VCV000503778,503778,NM_000238.4(KCNH2):c.1847_1855del (p.Tyr616_Thr618del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,503778,503778,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951537:aaggtgaagt:a|deletion,True,False +7:150974766:CTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG:C,KCNH2,VCV000503735,503735,NM_000238.4(KCNH2):c.221_251del (p.Thr74fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,503735,503735,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974766:ctgcgcgatctgcgcggcagcgcggcgctgcg:c|deletion,True,False +7:150950159:ACCCCATAC:A,KCNH2,VCV000503674,503674,NM_000238.4(KCNH2):c.2398+1_2398+8del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,503674,503674,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950159:accccatac:a|deletion,True,False +7:150947373:CCCCGGGGCCGCCGA:C,KCNH2,VCV000503672,503672,NM_000238.4(KCNH2):c.3093_3106del (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,503672,503672,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947373:ccccggggccgccga:c|deletion,True,False +7:150947367:A:ACGTCGCC,KCNH2,VCV000503659,503659,NM_000238.4(KCNH2):c.3106_3112dup (p.Val1038fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,503659,503659,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947367:a:acgtcgcc|duplication,True,False +7:150947804:GC:G,KCNH2,VCV000495746,495746,NM_000238.4(KCNH2):c.2766del (p.Pro923fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,495746,495746,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947804:gc:g|deletion,True,False +7:150951686:G:C,KCNH2,VCV000489342,489342,NM_000238.4(KCNH2):c.1707C>G (p.Tyr569Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,489342,489342,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951686:g:c|snv,True,False +7:150974856:G:T,KCNH2,VCV000488895,488895,NM_000238.4(KCNH2):c.162C>A (p.Tyr54Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,488895,488895,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974856:g:t|snv,True,False +7:150948510:C:A,KCNH2,VCV000488692,488692,NM_000238.4(KCNH2):c.2626G>T (p.Glu876Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,488692,488692,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948510:c:a|snv,True,False +7:150959583:C:T,KCNH2,VCV000456935,456935,NM_000238.4(KCNH2):c.461G>A (p.Trp154Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456935,456935,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150959583:c:t|snv,True,False +7:150947373:C:CCCCGGGG,KCNH2,VCV000456921,456921,NM_000238.4(KCNH2):c.3100_3106dup (p.Gly1036fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456921,456921,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947373:c:ccccgggg|duplication,True,False +7:150947381:C:CCG,KCNH2,VCV000456919,456919,NM_000238.4(KCNH2):c.3097_3098dup (p.Pro1034fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456919,456919,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947381:c:ccg|duplication,True,False +7:150947383:G:GCCGAC,KCNH2,VCV000456918,456918,NM_000238.4(KCNH2):c.3092_3096dup (p.Arg1033fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456918,456918,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947383:g:gccgac|duplication,True,False +7:150950347:C:CA,KCNH2,VCV000456904,456904,NM_000238.4(KCNH2):c.2218dup (p.Cys740fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456904,456904,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950347:c:ca|duplication,True,False +7:150950248:CCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGT:C,KCNH2,VCV000456903,456903,NM_000238.4(KCNH2):c.2180_2317del (p.Asp727_Ala772del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456903,456903,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950248:ccagcatgcaccagtgtgtcccctggcggtgcatgtgtggtcttgaacttcatggccagggcccgaaggcagcccttggtggcccctcggaagggtttgcagtgctgcagcagtgagcggttcaggtgcaggcagatgt:c|deletion,True,False +7:150950421:CTG:TT,KCNH2,VCV000456902,456902,NM_000238.4(KCNH2):c.2146-3_2146-1delinsAA,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456902,456902,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950421:ctg:tt|deletion,True,False +7:150951004:G:A,KCNH2,VCV000456901,456901,NM_000238.4(KCNH2):c.2062C>T (p.Gln688Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456901,456901,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951004:g:a|snv,True,False +7:150952646:C:CA,KCNH2,VCV000456886,456886,NM_000238.4(KCNH2):c.1335dup (p.Gly446fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,456886,456886,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952646:c:ca|duplication,True,False +7:150957296:TGA:T,KCNH2,VCV000456876,456876,NM_000238.4(KCNH2):c.1121_1122del (p.Val374fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,456876,456876,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150957296:tga:t|deletion,True,False +7:150947005:G:A,KCNH2,VCV000446417,446417,NM_000238.4(KCNH2):c.3202C>T (p.Gln1068Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,446417,446417,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947005:g:a|snv,True,False +7:150952424:C:G,KCNH2,VCV000439845,439845,NM_000238.4(KCNH2):c.1557+1G>C,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,439845,439845,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,Long QT syndrome 2|Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952424:c:g|snv,True,False +7:150947389:C:CCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCA,KCNH2,VCV000431374,431374,NM_000238.4(KCNH2):c.2906_3089dup (p.Gly989_Ala990insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,431374,431374,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947389:c:ccgggctggagagggggatgttgaggaggctgggggtgggggcggggcatcgagggagctcctggtactggcggccccgactgtccccccagaagctgaaaatgttggacactcctgagaaggcgcctgcagccagagagcagagctgggtgagcggggtagacgcaccaccgctgccacgcccggtcctccctcgcccgcccgtcgcccgggatacctgacagggggttgcaagtgtcgctgctcttctcgcagtcctccatcaggggctcccca|duplication,True,False +7:150947631:GCTCTT:G,KCNH2,VCV000431036,431036,NM_000238.4(KCNH2):c.2935_2939del (p.Lys979fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,431036,431036,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947631:gctctt:g|deletion,True,False +7:150948456:G:GCCTGC,KCNH2,VCV000430730,430730,NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,430730,430730,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,Long QT syndrome 2|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948456:g:gcctgc|duplication,True,False +7:150951114:A:C,KCNH2,VCV000427945,427945,NM_000238.4(KCNH2):c.1952T>G (p.Met651Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,427945,427945,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951114:a:c|snv,True,False +7:150951027:AC:A,KCNH2,VCV000427944,427944,NM_000238.4(KCNH2):c.2038del (p.Val680fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427944,427944,Long QT syndrome 2,Long QT syndrome 2,Long QT syndrome 2,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951027:ac:a|deletion,True,False +7:150951096:C:A,KCNH2,VCV000427076,427076,NM_000238.4(KCNH2):c.1970G>T (p.Gly657Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427076,427076,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951096:c:a|snv,True,False +7:150958306:TGCCA:G,KCNH2,VCV000426429,426429,NM_000238.4(KCNH2):c.665_669delinsC (p.Val222fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,426429,426429,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150958306:tgcca:g|deletion,True,False +7:150951473:G:C,KCNH2,VCV000423753,423753,NM_000238.4(KCNH2):c.1920C>G (p.Phe640Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,423753,423753,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951473:g:c|snv,True,False +7:150950937:CCG:C,KCNH2,VCV000423696,423696,NM_000238.4(KCNH2):c.2127_2128del (p.Asn709fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,423696,423696,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950937:ccg:c|deletion,True,False +7:150947419:T:TG,KCNH2,VCV000423015,423015,NM_000238.4(KCNH2):c.3060dup (p.Ser1021fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,423015,423015,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947419:t:tg|duplication,True,False +7:150947683:GG:T,KCNH2,VCV000421672,421672,NM_000238.4(KCNH2):c.2887_2888delinsA (p.Pro963fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,421672,421672,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947683:gg:t|deletion,True,False +7:150950983:G:A,KCNH2,VCV000420923,420923,NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420923,420923,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950983:g:a|snv,True,False +7:150947367:ACGTCGCCCCGGGGC:A,KCNH2,VCV000420585,420585,NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,420585,420585,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,Long QT syndrome|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,assertion_condition_label,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,7:150947367:acgtcgccccggggc:a|deletion,True,False +7:150959706:A:ACCACATC,KCNH2,VCV000420260,420260,NM_000238.4(KCNH2):c.331_337dup (p.Val113fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420260,420260,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150959706:a:accacatc|duplication,True,False +7:150951509:GC:G,KCNH2,VCV000419410,419410,NM_000238.4(KCNH2):c.1883del (p.Gly628fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,419410,419410,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951509:gc:g|deletion,True,False +7:150952468:GC:G,KCNH2,VCV000419379,419379,NM_000238.4(KCNH2):c.1513del (p.Ala505fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,419379,419379,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150952468:gc:g|deletion,True,False +7:150951667:G:A,KCNH2,VCV000419311,419311,NM_000238.4(KCNH2):c.1726C>T (p.Gln576Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,419311,419311,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951667:g:a|snv,True,False +7:150957370:GC:G,KCNH2,VCV000418919,418919,NM_000238.4(KCNH2):c.1048del (p.Ala350fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418919,418919,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150957370:gc:g|deletion,True,False +7:150947618:T:TG,KCNH2,VCV000418815,418815,NM_000238.4(KCNH2):c.2952dup (p.Asn985fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418815,418815,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947618:t:tg|duplication,True,False +7:150948977:GC:G,KCNH2,VCV000418787,418787,NM_000238.4(KCNH2):c.2470del (p.Ala824fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418787,418787,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948977:gc:g|deletion,True,False +7:150959587:TGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCA:T,KCNH2,VCV000418670,418670,NM_000238.4(KCNH2):c.395_456del (p.Val132fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418670,418670,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150959587:tggtgggggggccccggtggttggtgtcatgagccggggaccccaccatgtccttctccatca:t|deletion,True,False +7:150974854:G:T,KCNH2,VCV000418597,418597,NM_000238.4(KCNH2):c.164C>A (p.Ser55Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,418597,418597,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974854:g:t|snv,True,False +7:150947370:T:TCGCCCCGGGGC,KCNH2,VCV000405358,405358,NM_000238.4(KCNH2):c.3099_3109dup (p.Asp1037fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,405358,405358,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947370:t:tcgccccggggc|duplication,True,False +7:150959641:TC:T,KCNH2,VCV000405355,405355,NM_000238.4(KCNH2):c.402del (p.Lys135fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405355,405355,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150959641:tc:t|deletion,True,False +7:150951065:G:GT,KCNH2,VCV000405345,405345,NM_000238.4(KCNH2):c.2000dup (p.Tyr667Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405345,405345,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951065:g:gt|duplication,True,False +7:150950200:A:ATC,KCNH2,VCV000405342,405342,NM_000238.4(KCNH2):c.2364_2365dup (p.Ile789fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,405342,405342,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950200:a:atc|duplication,True,False +7:150951542:G:T,KCNH2,VCV000392690,392690,NM_000238.4(KCNH2):c.1851C>A (p.Phe617Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,392690,392690,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951542:g:t|snv,True,False +7:150951464:G:T,KCNH2,VCV000392341,392341,NM_000238.4(KCNH2):c.1929C>A (p.Cys643Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,392341,392341,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951464:g:t|snv,True,False +7:150951678:C:G,KCNH2,VCV000391858,391858,NM_000238.4(KCNH2):c.1715G>C (p.Gly572Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,391858,391858,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150951678:c:g|snv,True,False +7:150948439:C:A,KCNH2,VCV000387850,387850,NM_000238.4(KCNH2):c.2692+5G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,387850,387850,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150948439:c:a|snv,True,False +7:150959738:T:C,KCNH2,VCV000379451,379451,NM_000238.4(KCNH2):c.308-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,379451,379451,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150959738:t:c|snv,True,False +7:150947453:G:C,KCNH2,VCV000379293,379293,NM_000238.4(KCNH2):c.3027C>G (p.Tyr1009Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,379293,379293,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947453:g:c|snv,True,False +7:150947006:T:TA,KCNH2,VCV000372942,372942,NM_000238.4(KCNH2):c.3200dup (p.Gln1068fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372942,372942,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947006:t:ta|duplication,True,False +7:150974897:C:G,KCNH2,VCV000372589,372589,NM_000238.4(KCNH2):c.121G>C (p.Val41Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372589,372589,,,,unmatched,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150974897:c:g|snv,True,False +7:150947372:G:GCC,KCNH2,VCV000372571,372571,NM_000238.4(KCNH2):c.3106_3107dup (p.Asp1037fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372571,372571,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947372:g:gcc|duplication,True,False +7:150947380:GC:G,KCNH2,VCV000372378,372378,NM_000238.4(KCNH2):c.3099del (p.Arg1035fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372378,372378,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150947380:gc:g|deletion,True,False +7:150950167:C:A,KCNH2,VCV000372377,372377,NM_000238.4(KCNH2):c.2398+1G>T,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8263888888888888,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,372377,372377,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,Long QT syndrome|Long QT syndrome 2,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:150950167:c:a|snv,True,False +3:38557241:T:C,SCN5A,VCV004814196,4814196,NM_000335.5(SCN5A):c.4286A>G (p.Asp1429Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4814196,4814196,SCN5A-related disorder,SCN5A-related disorder,SCN5A-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38557241:t:c|snv,True,False +3:38556563:G:A,SCN5A,VCV004814157,4814157,NM_000335.5(SCN5A):c.4312C>T (p.Gln1438Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4814157,4814157,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38556563:g:a|snv,True,False +3:38555679:GGGGCTTCTT:G,SCN5A,VCV004814013,4814013,NM_000335.5(SCN5A):c.4507_4515del (p.Lys1503_Pro1505del),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4814013,4814013,Branchiootic syndrome 1,Branchiootic syndrome 1,Branchiootic syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38555679:ggggcttctt:g|deletion,True,False +3:38603729:C:A,SCN5A,VCV004757059,4757059,NM_000335.5(SCN5A):c.1873G>T (p.Glu625Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4757059,4757059,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38603729:c:a|snv,True,False +3:38551453:GC:G,SCN5A,VCV004733790,4733790,NM_000335.5(SCN5A):c.4915del (p.Ala1639fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4733790,4733790,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38551453:gc:g|deletion,True,False +3:38630345:TG:T,SCN5A,VCV004731428,4731428,NM_000335.5(SCN5A):c.357del (p.Ile120fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4731428,4731428,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38630345:tg:t|deletion,True,False +3:38630309:A:G,SCN5A,VCV004730817,4730817,NM_000335.5(SCN5A):c.392+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4730817,4730817,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38630309:a:g|snv,True,False +3:38581324:GT:G,SCN5A,VCV004727300,4727300,NM_000335.5(SCN5A):c.2834del (p.Asp945fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4727300,4727300,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581324:gt:g|deletion,True,False +3:38587440:GA:G,SCN5A,VCV004723344,4723344,NM_000335.5(SCN5A):c.2395del (p.Ser799fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4723344,4723344,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38587440:ga:g|deletion,True,False +3:38603889:AC:A,SCN5A,VCV004722126,4722126,NM_000335.5(SCN5A):c.1712del (p.Ser571fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4722126,4722126,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38603889:ac:a|deletion,True,False +3:38550953:G:A,SCN5A,VCV004721301,4721301,NM_000335.5(SCN5A):c.5416C>T (p.Gln1806Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4721301,4721301,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38550953:g:a|snv,True,False +3:38613801:GAC:G,SCN5A,VCV004720439,4720439,NM_000335.5(SCN5A):c.643_644del (p.Val215fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4720439,4720439,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38613801:gac:g|deletion,True,False +3:38581225:C:T,SCN5A,VCV004717480,4717480,NM_000335.5(SCN5A):c.2934G>A (p.Trp978Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4717480,4717480,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581225:c:t|snv,True,False +3:38557283:GC:G,SCN5A,VCV004716661,4716661,NM_001099405.2(SCN5A):c.4246-706del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4716661,4716661,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38557283:gc:g|deletion,True,False +3:38597930:C:T,SCN5A,VCV004716468,4716468,NM_000335.5(SCN5A):c.2061G>A (p.Trp687Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4716468,4716468,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38597930:c:t|snv,True,False +3:38557236:TG:T,SCN5A,VCV004714862,4714862,NM_000335.5(SCN5A):c.4290del (p.Arg1431fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4714862,4714862,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38557236:tg:t|deletion,True,False +3:38576755:GC:G,SCN5A,VCV004712144,4712144,NM_000335.5(SCN5A):c.3413del (p.Gly1138fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4712144,4712144,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38576755:gc:g|deletion,True,False +3:38556493:A:T,SCN5A,VCV004681217,4681217,NM_000335.5(SCN5A):c.4382T>A (p.Leu1461Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4681217,4681217,Brugada syndrome 1|Cardiac arrhythmia,Brugada syndrome 1|Cardiac arrhythmia,Brugada syndrome 1|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38556493:a:t|snv,True,False +3:38562538:C:G,SCN5A,VCV004614942,4614942,NM_000335.5(SCN5A):c.3838-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4614942,4614942,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38562538:c:g|snv,True,False +3:38608150:C:G,SCN5A,VCV004614940,4614940,NM_000335.5(SCN5A):c.998+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4614940,4614940,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38608150:c:g|snv,True,False +3:38599038:C:A,SCN5A,VCV004614936,4614936,NM_000335.5(SCN5A):c.1903G>T (p.Glu635Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4614936,4614936,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38599038:c:a|snv,True,False +3:38613756:T:TA,SCN5A,VCV004537605,4537605,NM_000335.5(SCN5A):c.689dup (p.Ser231fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4537605,4537605,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38613756:t:ta|duplication,True,False +3:38556576:A:C,SCN5A,VCV004536358,4536358,NM_000335.5(SCN5A):c.4299T>G (p.Tyr1433Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4536358,4536358,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38556576:a:c|snv,True,False +3:38606140:C:A,SCN5A,VCV004531893,4531893,NM_000335.5(SCN5A):c.1149G>T (p.Arg383Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531893,4531893,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38606140:c:a|snv,True,False +3:38597749:TCTC:T,SCN5A,VCV004530664,4530664,NM_000335.5(SCN5A):c.2236GAG[1] (p.Glu747del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4530664,4530664,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38597749:tctc:t|deletion,True,False +3:38585841:C:T,SCN5A,VCV004526988,4526988,NM_000335.5(SCN5A):c.2637G>A (p.Trp879Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4526988,4526988,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38585841:c:t|snv,True,False +3:38620842:C:A,SCN5A,VCV004160653,4160653,NM_000335.5(SCN5A):c.611+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4160653,4160653,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38620842:c:a|snv,True,False +3:38609896:CTG:C,SCN5A,VCV004160651,4160651,NM_000335.5(SCN5A):c.770_771del (p.Thr257fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4160651,4160651,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38609896:ctg:c|deletion,True,False +3:38585897:A:AG,SCN5A,VCV004084973,4084973,NM_000335.5(SCN5A):c.2580dup (p.Phe861fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4084973,4084973,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38585897:a:ag|duplication,True,False +3:38550472:G:A,SCN5A,VCV004082128,4082128,NM_000335.5(SCN5A):c.5897C>T (p.Ser1966Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4082128,4082128,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38550472:g:a|snv,True,False +3:38606687:C:G,SCN5A,VCV004071999,4071999,NM_000335.5(SCN5A):c.1122G>C (p.Trp374Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4071999,4071999,Sick sinus syndrome 1,Sick sinus syndrome 1,Sick sinus syndrome 1,variation_id,,,,representation_repairable,0.45,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38606687:c:g|snv,True,False +3:38560422:C:A,SCN5A,VCV003898691,3898691,NM_000335.5(SCN5A):c.3967G>T (p.Val1323Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3898691,3898691,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38560422:c:a|snv,True,False +3:38551118:AG:A,SCN5A,VCV003895188,3895188,NM_000335.5(SCN5A):c.5250del (p.Phe1751fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3895188,3895188,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38551118:ag:a|deletion,True,False +3:38550902:GC:G,SCN5A,VCV003894898,3894898,NM_000335.5(SCN5A):c.5466del (p.Glu1822fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894898,3894898,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38550902:gc:g|deletion,True,False +3:38606698:G:A,SCN5A,VCV003894008,3894008,NM_000335.5(SCN5A):c.1111C>T (p.Gln371Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3894008,3894008,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38606698:g:a|snv,True,False +3:38556500:A:AG,SCN5A,VCV003893711,3893711,NM_000335.5(SCN5A):c.4374dup (p.Phe1459fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3893711,3893711,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38556500:a:ag|duplication,True,False +3:38620885:CG:C,SCN5A,VCV003793221,3793221,NM_000335.5(SCN5A):c.568del (p.Arg190fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3793221,3793221,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38620885:cg:c|deletion,True,False +3:38576677:CT:A,SCN5A,VCV003793218,3793218,NM_000335.5(SCN5A):c.3491_3492delinsT (p.Glu1164fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3793218,3793218,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38576677:ct:a|deletion,True,False +3:38606773:C:A,SCN5A,VCV003778738,3778738,NM_000335.5(SCN5A):c.1036G>T (p.Glu346Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3778738,3778738,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38606773:c:a|snv,True,False +3:38585783:A:ACTCTC,SCN5A,VCV003773853,3773853,NM_000335.5(SCN5A):c.2690_2694dup (p.Trp899fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3773853,3773853,SCN5A-related disorder,SCN5A-related disorder,SCN5A-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38585783:a:actctc|duplication,True,False +3:38560424:AC:A,SCN5A,VCV003772281,3772281,NM_000335.5(SCN5A):c.3964del (p.Val1322fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3772281,3772281,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38560424:ac:a|deletion,True,False +3:38581355:AG:A,SCN5A,VCV003766453,3766453,NM_000335.5(SCN5A):c.2803del (p.Leu935fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3766453,3766453,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581355:ag:a|deletion,True,False +3:38604795:T:TGA,SCN5A,VCV003730868,3730868,NM_000335.5(SCN5A):c.1450_1451dup (p.Gly485fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3730868,3730868,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38604795:t:tga|duplication,True,False +3:38580981:C:A,SCN5A,VCV003729291,3729291,NM_000335.5(SCN5A):c.3178G>T (p.Glu1060Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3729291,3729291,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38580981:c:a|snv,True,False +3:38555654:A:G,SCN5A,VCV003727847,3727847,NM_000335.5(SCN5A):c.4539+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3727847,3727847,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38555654:a:g|snv,True,False +3:38551375:A:AG,SCN5A,VCV003723601,3723601,NM_000335.5(SCN5A):c.4993dup (p.Leu1665fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3723601,3723601,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38551375:a:ag|duplication,True,False +3:38613831:G:C,SCN5A,VCV003723452,3723452,NM_000335.5(SCN5A):c.615C>G (p.Tyr205Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3723452,3723452,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38613831:g:c|snv,True,False +3:38620958:C:CG,SCN5A,VCV003722844,3722844,NM_000335.5(SCN5A):c.495dup (p.Ala166fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3722844,3722844,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38620958:c:cg|duplication,True,False +3:38562511:G:GT,SCN5A,VCV003722003,3722003,NM_000335.5(SCN5A):c.3863dup (p.Asn1288fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3722003,3722003,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38562511:g:gt|duplication,True,False +3:38604029:TG:T,SCN5A,VCV003721680,3721680,NM_000335.5(SCN5A):c.1572del (p.Ser525fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3721680,3721680,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38604029:tg:t|deletion,True,False +3:38556558:C:T,SCN5A,VCV003720482,3720482,NM_000335.5(SCN5A):c.4317G>A (p.Trp1439Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3720482,3720482,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38556558:c:t|snv,True,False +3:38579495:G:A,SCN5A,VCV003699241,3699241,NM_001099404.2(SCN5A):c.3229C>T (p.Gln1077Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3699241,3699241,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38579495:g:a|snv,True,False +3:38622468:CAT:C,SCN5A,VCV003668098,3668098,NM_000335.5(SCN5A):c.412_413del (p.Met138fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3668098,3668098,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38622468:cat:c|deletion,True,False +3:38551233:C:T,SCN5A,VCV003663041,3663041,NM_000335.5(SCN5A):c.5136G>A (p.Trp1712Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3663041,3663041,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38551233:c:t|snv,True,False +3:38562461:CG:C,SCN5A,VCV003662552,3662552,NM_000335.5(SCN5A):c.3913del (p.Arg1305fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3662552,3662552,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38562461:cg:c|deletion,True,False +3:38576745:CT:C,SCN5A,VCV003661184,3661184,NM_000335.5(SCN5A):c.3423del (p.Asp1142fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3661184,3661184,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38576745:ct:c|deletion,True,False +3:38550653:CCATGGCCGACACCTCTTCGTGCTTGCGCCGGAGTGTGGTGGTGATGGGCTCGTAGGAGATCTTGGATGGGTTGGCTGCCATGAACTTCTCCTCCATCTGGATCTTCAGGGCGTCCATCTCCCCAGACTCCCCCAGGACCCTTTTGGTGAAGGCAAAGAGAATGTCCATGCAATGGATGCGGTCCCCACTCACCATGGGCAGGTCCATGTTGATGAGGCTTATCTGGTTGGGCTTGGCGATACGGAGTGGCTCAGACAGGGCATCGGCAAAGTCAGACAGGACCGAATACTCAATAAACTGAGTGGCCTCTGGGTCAAATTTCTCCCAGATCTCATAGAACATATCGAAGTCGTCCTCACTCAGGGGCTCGGTGCTCTCCTCCGTGGCCACGCTGAAGTTCTCCAGGATGATGGCAATGTACATGTTGACCACGATGAGGAAGGAGATGATGATGTAGGTGGTGAAGAAGAGGATGCCCACGGCTGGGCTCCCGCAGTCCCCCCGAGAGCCATTGCTGTTGGGCAGAGTGGGGTCGCAGTAGGGCGGCCCAGTGTTGAGGATGGGG:C,SCN5A,VCV003660495,3660495,NM_000335.5(SCN5A):c.5151_5715del (p.Ser1717fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3660495,3660495,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38550653:ccatggccgacacctcttcgtgcttgcgccggagtgtggtggtgatgggctcgtaggagatcttggatgggttggctgccatgaacttctcctccatctggatcttcagggcgtccatctccccagactcccccaggacccttttggtgaaggcaaagagaatgtccatgcaatggatgcggtccccactcaccatgggcaggtccatgttgatgaggcttatctggttgggcttggcgatacggagtggctcagacagggcatcggcaaagtcagacaggaccgaatactcaataaactgagtggcctctgggtcaaatttctcccagatctcatagaacatatcgaagtcgtcctcactcaggggctcggtgctctcctccgtggccacgctgaagttctccaggatgatggcaatgtacatgttgaccacgatgaggaaggagatgatgatgtaggtggtgaagaagaggatgcccacggctgggctcccgcagtccccccgagagccattgctgttgggcagagtggggtcgcagtagggcggcccagtgttgaggatgggg:c|deletion,True,False +3:38550980:A:AT,SCN5A,VCV003653975,3653975,NM_000335.5(SCN5A):c.5388_5389insA (p.Trp1797fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3653975,3653975,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38550980:a:at|insertion,True,False +3:38633076:C:A,SCN5A,VCV003649069,3649069,NM_000335.5(SCN5A):c.232G>T (p.Glu78Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3649069,3649069,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38633076:c:a|snv,True,False +3:38550851:G:GC,SCN5A,VCV003645763,3645763,NM_000335.5(SCN5A):c.5517dup (p.Pro1840fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3645763,3645763,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38550851:g:gc|duplication,True,False +3:38587574:C:G,SCN5A,VCV003644710,3644710,NM_000335.5(SCN5A):c.2263-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3644710,3644710,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38587574:c:g|snv,True,False +3:38551094:A:AGGAGATGATGATGTAGGTGGTGAAGAAGAGGAGAT,SCN5A,VCV003642736,3642736,NM_000335.5(SCN5A):c.5274_5275insATCTCCTCTTCTTCACCACCTACATCATCATCTCC (p.Phe1759fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3642736,3642736,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38551094:a:aggagatgatgatgtaggtggtgaagaagaggagat|insertion,True,False +3:38633069:AG:A,SCN5A,VCV003639026,3639026,NM_000335.5(SCN5A):c.238del (p.Leu80fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3639026,3639026,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38633069:ag:a|deletion,True,False +3:38587399:C:G,SCN5A,VCV003633347,3633347,NM_000335.5(SCN5A):c.2436+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3633347,3633347,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38587399:c:g|snv,True,False +3:38556531:A:C,SCN5A,VCV003600631,3600631,NM_000335.5(SCN5A):c.4344T>G (p.Tyr1448Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3600631,3600631,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38556531:a:c|snv,True,False +3:38554311:A:C,SCN5A,VCV003544406,3544406,NM_000335.5(SCN5A):c.4778T>G (p.Phe1593Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3544406,3544406,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38554311:a:c|snv,True,False +3:38604025:CG:C,SCN5A,VCV003438263,3438263,NM_000335.5(SCN5A):c.1576del (p.Arg526fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3438263,3438263,Cardiovascular phenotype|Brugada syndrome 1,Cardiovascular phenotype|Brugada syndrome 1,Cardiovascular phenotype|Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38604025:cg:c|deletion,True,False +3:38587400:C:CAGGCG,SCN5A,VCV003385944,3385944,NM_000335.5(SCN5A):c.2431_2435dup (p.Leu813fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3385944,3385944,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38587400:c:caggcg|duplication,True,False +3:38560288:CTCTG:C,SCN5A,VCV003385918,3385918,NM_000335.5(SCN5A):c.4097_4100del (p.Thr1366fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3385918,3385918,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38560288:ctctg:c|deletion,True,False +3:38566505:A:C,SCN5A,VCV003383167,3383167,NM_000335.5(SCN5A):c.3741T>G (p.Tyr1247Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3383167,3383167,8 conditions,8 conditions,8 conditions,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38566505:a:c|snv,True,False +3:38581086:C:A,SCN5A,VCV003381870,3381870,NM_000335.5(SCN5A):c.3073G>T (p.Glu1025Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3381870,3381870,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38581086:c:a|snv,True,False +3:38606082:A:G,SCN5A,VCV003376929,3376929,NM_000335.5(SCN5A):c.1207T>C (p.Tyr403His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376929,3376929,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38606082:a:g|snv,True,False +3:38603774:CT:C,SCN5A,VCV003367173,3367173,NM_000335.5(SCN5A):c.1827del (p.Glu610fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3367173,3367173,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38603774:ct:c|deletion,True,False +3:38598975:GC:G,SCN5A,VCV003345326,3345326,NM_000335.5(SCN5A):c.1965del (p.Glu655fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3345326,3345326,SCN5A-related disorder,SCN5A-related disorder,SCN5A-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38598975:gc:g|deletion,True,False +3:38598917:C:A,SCN5A,VCV003337556,3337556,NM_000335.5(SCN5A):c.2023+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3337556,3337556,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38598917:c:a|snv,True,False +3:38566583:C:G,SCN5A,VCV003337555,3337555,NM_000335.5(SCN5A):c.3664-1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3337555,3337555,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38566583:c:g|snv,True,False +3:38557236:T:A,SCN5A,VCV003337551,3337551,NM_000335.5(SCN5A):c.4291A>T (p.Arg1431Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3337551,3337551,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38557236:t:a|snv,True,False +3:38606784:A:AG,SCN5A,VCV003316598,3316598,NM_000335.5(SCN5A):c.1024dup (p.Leu342fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3316598,3316598,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38606784:a:ag|duplication,True,False +3:38576776:TG:T,SCN5A,VCV003316597,3316597,NM_000335.5(SCN5A):c.3392del (p.Pro1131fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3316597,3316597,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38576776:tg:t|deletion,True,False +3:38585883:G:C,SCN5A,VCV003316593,3316593,NM_000335.5(SCN5A):c.2595C>G (p.Tyr865Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3316593,3316593,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38585883:g:c|snv,True,False +3:38620967:TG:T,SCN5A,VCV003252620,3252620,NM_000335.5(SCN5A):c.486del (p.Glu161_Tyr162insTer),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3252620,3252620,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38620967:tg:t|deletion,True,False +3:38587409:GGA:G,SCN5A,VCV003252218,3252218,NM_000335.5(SCN5A):c.2425_2426del (p.Ser809fs),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3252218,3252218,8 conditions,8 conditions,8 conditions,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38587409:gga:g|deletion,True,False +3:38575395:CCTTCCCTGGG:C,SCN5A,VCV003251141,3251141,NM_000335.5(SCN5A):c.3555_3564del (p.Pro1186fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3251141,3251141,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38575395:ccttccctggg:c|deletion,True,False +3:38613752:CTG:C,SCN5A,VCV003251122,3251122,NM_000335.5(SCN5A):c.692_693del (p.Ser231fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3251122,3251122,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38613752:ctg:c|deletion,True,False +3:38598963:G:A,SCN5A,VCV003248566,3248566,NM_000335.5(SCN5A):c.1978C>T (p.Gln660Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3248566,3248566,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38598963:g:a|snv,True,False +3:38604050:TC:T,SCN5A,VCV003238947,3238947,NM_000335.5(SCN5A):c.1551del (p.Thr518fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3238947,3238947,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38604050:tc:t|deletion,True,False +3:38585930:CGAT:C,SCN5A,VCV003236392,3236392,NM_000335.5(SCN5A):c.2542ATC[1] (p.Ile849del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3236392,3236392,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38585930:cgat:c|deletion,True,False +3:38599037:T:TC,SCN5A,VCV003229479,3229479,NM_000335.5(SCN5A):c.1903dup (p.Glu635fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3229479,3229479,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38599037:t:tc|duplication,True,False +3:38581204:CA:C,SCN5A,VCV003076028,3076028,NM_000335.5(SCN5A):c.2954del (p.Leu985fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3076028,3076028,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38581204:ca:c|deletion,True,False +3:38581186:CTT:C,SCN5A,VCV003075937,3075937,NM_000335.5(SCN5A):c.2971_2972del (p.Lys991fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3075937,3075937,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38581186:ctt:c|deletion,True,False +3:38550979:C:T,SCN5A,VCV003075757,3075757,NM_000335.5(SCN5A):c.5390G>A (p.Trp1797Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3075757,3075757,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38550979:c:t|snv,True,False +3:38556481:AT:A,SCN5A,VCV003075755,3075755,NM_000335.5(SCN5A):c.4393del (p.Ile1465fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,3075755,3075755,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,unanchored,0.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38556481:at:a|deletion,True,False +3:38580951:C:A,SCN5A,VCV003075752,3075752,NM_000335.5(SCN5A):c.3208G>T (p.Glu1070Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3075752,3075752,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38580951:c:a|snv,True,False +3:38579447:TG:T,SCN5A,VCV003074416,3074416,NM_000335.5(SCN5A):c.3273del (p.Arg1092fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3074416,3074416,Congenital long QT syndrome,Congenital long QT syndrome,Congenital long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38579447:tg:t|deletion,True,False +3:38597824:T:TG,SCN5A,VCV003073663,3073663,NM_000335.5(SCN5A):c.2166dup (p.Ile723fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3073663,3073663,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38597824:t:tg|duplication,True,False +3:38603902:AG:A,SCN5A,VCV003073053,3073053,NM_000335.5(SCN5A):c.1699del (p.Leu567fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3073053,3073053,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38603902:ag:a|deletion,True,False +3:38554469:AT:A,SCN5A,VCV003071701,3071701,NM_000335.5(SCN5A):c.4619del (p.Asn1540fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3071701,3071701,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38554469:at:a|deletion,True,False +3:38560421:A:C,SCN5A,VCV003067128,3067128,NM_000335.5(SCN5A):c.3968T>G (p.Val1323Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3067128,3067128,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38560421:a:c|snv,True,False +3:38556461:A:T,SCN5A,VCV003062283,3062283,NM_000335.5(SCN5A):c.4414T>A (p.Phe1472Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3062283,3062283,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38556461:a:t|snv,True,False +3:38603710:A:C,SCN5A,VCV003027437,3027437,NM_000335.5(SCN5A):c.1890+2T>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3027437,3027437,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38603710:a:c|snv,True,False +3:38606054:AC:A,SCN5A,VCV003024479,3024479,NM_000335.5(SCN5A):c.1234del (p.Val412fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3024479,3024479,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38606054:ac:a|deletion,True,False +3:38581031:TC:T,SCN5A,VCV003001404,3001404,NM_000335.5(SCN5A):c.3127del (p.Glu1043fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3001404,3001404,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581031:tc:t|deletion,True,False +3:38606764:CG:C,SCN5A,VCV002910170,2910170,NM_000335.5(SCN5A):c.1044del (p.Asp349fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2910170,2910170,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38606764:cg:c|deletion,True,False +3:38630309:A:C,SCN5A,VCV002862415,2862415,NM_000335.5(SCN5A):c.392+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2862415,2862415,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38630309:a:c|snv,True,False +3:38581134:A:AG,SCN5A,VCV002861983,2861983,NM_000335.5(SCN5A):c.3024dup (p.Tyr1009fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2861983,2861983,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581134:a:ag|duplication,True,False +3:38579367:C:T,SCN5A,VCV002850091,2850091,NM_000335.5(SCN5A):c.3354G>A (p.Trp1118Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2850091,2850091,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38579367:c:t|snv,True,False +3:38581152:TG:T,SCN5A,VCV002846167,2846167,NM_000335.5(SCN5A):c.3006del (p.Ser1003fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2846167,2846167,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38581152:tg:t|deletion,True,False +3:38550951:C:CT,SCN5A,VCV002834047,2834047,NM_000335.5(SCN5A):c.5417dup (p.Phe1807fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2834047,2834047,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38550951:c:ct|duplication,True,False +3:38586042:C:G,SCN5A,VCV002831276,2831276,NM_000335.5(SCN5A):c.2437-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2831276,2831276,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38586042:c:g|snv,True,False +3:38622423:AG:A,SCN5A,VCV002829409,2829409,NM_000335.5(SCN5A):c.458del (p.Pro153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2829409,2829409,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38622423:ag:a|deletion,True,False +3:38551299:CAT:C,SCN5A,VCV002820677,2820677,NM_000335.5(SCN5A):c.5068_5069del (p.Met1690fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2820677,2820677,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38551299:cat:c|deletion,True,False +3:38566552:T:A,SCN5A,VCV002818735,2818735,NM_000335.5(SCN5A):c.3694A>T (p.Lys1232Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2818735,2818735,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38566552:t:a|snv,True,False +3:38555657:A:AG,SCN5A,VCV002817837,2817837,NM_000335.5(SCN5A):c.4537dup (p.Leu1513fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2817837,2817837,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38555657:a:ag|duplication,True,False +3:38587499:CT:C,SCN5A,VCV002798618,2798618,NM_000335.5(SCN5A):c.2336del (p.Gln779fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2798618,2798618,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38587499:ct:c|deletion,True,False +3:38604785:C:A,SCN5A,VCV002774482,2774482,NM_000335.5(SCN5A):c.1462G>T (p.Glu488Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2774482,2774482,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38604785:c:a|snv,True,False +3:38604761:TGGGG:CAGA,SCN5A,VCV002774480,2774480,NM_000335.5(SCN5A):c.1482_1486delinsTCTG (p.Pro495fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2774480,2774480,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38604761:tgggg:caga|deletion,True,False +3:38581002:C:A,SCN5A,VCV002774462,2774462,NM_000335.5(SCN5A):c.3157G>T (p.Glu1053Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2774462,2774462,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38581002:c:a|snv,True,False +3:38576660:C:A,SCN5A,VCV002774456,2774456,NM_000335.5(SCN5A):c.3508+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2774456,2774456,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38576660:c:a|snv,True,False +3:38556549:GT:G,SCN5A,VCV002774447,2774447,NM_000335.5(SCN5A):c.4325del (p.Asn1442fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2774447,2774447,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38556549:gt:g|deletion,True,False +3:38581271:AG:A,SCN5A,VCV002767841,2767841,NM_000335.5(SCN5A):c.2887del (p.Leu963fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2767841,2767841,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581271:ag:a|deletion,True,False +3:38622407:AC:A,SCN5A,VCV002767035,2767035,NM_000335.5(SCN5A):c.474del (p.Lys158fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2767035,2767035,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38622407:ac:a|deletion,True,False +3:38585881:G:T,SCN5A,VCV002764562,2764562,NM_000335.5(SCN5A):c.2597C>A (p.Ser866Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2764562,2764562,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38585881:g:t|snv,True,False +3:38576660:C:G,SCN5A,VCV002764009,2764009,NM_000335.5(SCN5A):c.3508+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2764009,2764009,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38576660:c:g|snv,True,False +3:38606062:CAG:C,SCN5A,VCV002754673,2754673,NM_000335.5(SCN5A):c.1225_1226del (p.Leu409fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2754673,2754673,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38606062:cag:c|deletion,True,False +3:38554540:G:A,SCN5A,VCV002750658,2750658,NM_000335.5(SCN5A):c.4549C>T (p.Gln1517Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2750658,2750658,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38554540:g:a|snv,True,False +3:38576675:TC:T,SCN5A,VCV002749678,2749678,NM_000335.5(SCN5A):c.3493del (p.Asp1165fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2749678,2749678,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38576675:tc:t|deletion,True,False +3:38566430:C:T,SCN5A,VCV002739542,2739542,NM_000335.5(SCN5A):c.3816G>A (p.Trp1272Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2739542,2739542,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38566430:c:t|snv,True,False +3:38581041:CG:C,SCN5A,VCV002733575,2733575,NM_000335.5(SCN5A):c.3117del (p.Asp1041fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2733575,2733575,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581041:cg:c|deletion,True,False +3:38609952:A:G,SCN5A,VCV002728351,2728351,NM_000335.5(SCN5A):c.716T>C (p.Ile239Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2728351,2728351,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38609952:a:g|snv,True,False +3:38606750:G:GGTGTAGCC,SCN5A,VCV002719420,2719420,NM_000335.5(SCN5A):c.1051_1058dup (p.Ser354fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2719420,2719420,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38606750:g:ggtgtagcc|duplication,True,False +3:38551073:AC:A,SCN5A,VCV002713386,2713386,NM_000335.5(SCN5A):c.5295del (p.Met1765fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2713386,2713386,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38551073:ac:a|deletion,True,False +3:38557256:A:AT,SCN5A,VCV002708294,2708294,NM_000335.5(SCN5A):c.4270dup (p.Met1424fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2708294,2708294,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38557256:a:at|duplication,True,False +3:38566436:C:T,SCN5A,VCV002705691,2705691,NM_000335.5(SCN5A):c.3810G>A (p.Trp1270Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2705691,2705691,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38566436:c:t|snv,True,False +3:38599043:GGCGT:G,SCN5A,VCV002587163,2587163,NM_000335.5(SCN5A):c.1894_1897del (p.Thr632fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2587163,2587163,Cardiovascular phenotype||Brugada syndrome,Cardiovascular phenotype||Brugada syndrome,Cardiovascular phenotype||Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38599043:ggcgt:g|deletion,True,False +3:38585801:G:T,SCN5A,VCV002582527,2582527,NM_000335.5(SCN5A):c.2677C>A (p.Arg893Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2582527,2582527,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38585801:g:t|snv,True,False +3:38620950:G:T,SCN5A,VCV002574114,2574114,NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2574114,2574114,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38620950:g:t|snv,True,False +3:38576782:C:G,SCN5A,VCV002574113,2574113,NM_000335.5(SCN5A):c.3388-1G>C,Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2574113,2574113,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,Brugada syndrome 1;Long QT syndrome 3,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38576782:c:g|snv,True,False +3:38576710:GA:G,SCN5A,VCV002567176,2567176,NM_000335.5(SCN5A):c.3458del (p.Ile1153fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2567176,2567176,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38576710:ga:g|deletion,True,False +3:38597909:G:T,SCN5A,VCV002567171,2567171,NM_000335.5(SCN5A):c.2082C>A (p.Tyr694Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2567171,2567171,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38597909:g:t|snv,True,False +3:38560146:C:A,SCN5A,VCV002567167,2567167,NM_000335.5(SCN5A):c.4242+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2567167,2567167,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38560146:c:a|snv,True,False +3:38560208:C:T,SCN5A,VCV002506126,2506126,NM_000335.5(SCN5A):c.4181G>A (p.Trp1394Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2506126,2506126,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38560208:c:t|snv,True,False +3:38620925:G:GA,SCN5A,VCV002505150,2505150,NM_000335.5(SCN5A):c.528dup (p.Leu177fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2505150,2505150,Primary dilated cardiomyopathy,Primary dilated cardiomyopathy,Primary dilated cardiomyopathy,variation_id,,,,representation_repairable,0.45,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38620925:g:ga|duplication,True,False +3:38585891:T:A,SCN5A,VCV002498925,2498925,NM_000335.5(SCN5A):c.2587A>T (p.Lys863Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2498925,2498925,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38585891:t:a|snv,True,False +3:38609828:G:T,SCN5A,VCV002444515,2444515,NM_000335.5(SCN5A):c.840C>A (p.Cys280Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2444515,2444515,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38609828:g:t|snv,True,False +3:38613772:C:G,SCN5A,VCV002203341,2203341,NM_000335.5(SCN5A):c.674G>C (p.Arg225Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203341,2203341,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38613772:c:g|snv,True,False +3:38604830:C:A,SCN5A,VCV002203340,2203340,NM_000335.5(SCN5A):c.1417G>T (p.Glu473Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203340,2203340,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38604830:c:a|snv,True,False +3:38585996:G:A,SCN5A,VCV002203339,2203339,NM_000335.5(SCN5A):c.2482C>T (p.Leu828Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2203339,2203339,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38585996:g:a|snv,True,False +3:38585936:TG:T,SCN5A,VCV002203338,2203338,NM_000335.5(SCN5A):c.2541del (p.Ile848fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203338,2203338,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38585936:tg:t|deletion,True,False +3:38581358:AAG:A,SCN5A,VCV002203337,2203337,NM_000335.5(SCN5A):c.2799_2800del (p.Phe934fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203337,2203337,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581358:aag:a|deletion,True,False +3:38554319:C:T,SCN5A,VCV002203335,2203335,NM_000335.5(SCN5A):c.4770G>A (p.Trp1590Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2203335,2203335,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38554319:c:t|snv,True,False +3:38608215:C:T,SCN5A,VCV002126186,2126186,NM_000335.5(SCN5A):c.935-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2126186,2126186,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38608215:c:t|snv,True,False +3:38551089:GAGGA:G,SCN5A,VCV002124520,2124520,NM_000335.5(SCN5A):c.5276_5279del (p.Phe1759fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2124520,2124520,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38551089:gagga:g|deletion,True,False +3:38556446:T:A,SCN5A,VCV002114785,2114785,NM_000335.5(SCN5A):c.4429A>T (p.Lys1477Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2114785,2114785,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38556446:t:a|snv,True,False +3:38603949:CG:C,SCN5A,VCV002113775,2113775,NM_000335.5(SCN5A):c.1652del (p.Ala551fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2113775,2113775,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38603949:cg:c|deletion,True,False +3:38562483:T:TG,SCN5A,VCV002107269,2107269,NM_000335.5(SCN5A):c.3891dup (p.Ile1298fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2107269,2107269,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38562483:t:tg|duplication,True,False +3:38598994:A:T,SCN5A,VCV002107170,2107170,NM_000335.5(SCN5A):c.1947T>A (p.Cys649Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2107170,2107170,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38598994:a:t|snv,True,False +3:38551532:TC:T,SCN5A,VCV002106626,2106626,NM_000335.5(SCN5A):c.4836del (p.Lys1613fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2106626,2106626,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38551532:tc:t|deletion,True,False +3:38575375:CT:C,SCN5A,VCV002100770,2100770,NM_000335.5(SCN5A):c.3584del (p.Lys1195fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2100770,2100770,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38575375:ct:c|deletion,True,False +3:38551234:C:T,SCN5A,VCV002094285,2094285,NM_000335.5(SCN5A):c.5135G>A (p.Trp1712Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,2094285,2094285,,,,unmatched,,,,unanchored,0.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38551234:c:t|snv,True,False +3:38562539:T:A,SCN5A,VCV002088946,2088946,NM_000335.5(SCN5A):c.3838-2A>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2088946,2088946,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38562539:t:a|snv,True,False +3:38587511:G:C,SCN5A,VCV002069900,2069900,NM_000335.5(SCN5A):c.2325C>G (p.Tyr775Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2069900,2069900,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38587511:g:c|snv,True,False +3:38608216:T:C,SCN5A,VCV002057896,2057896,NM_000335.5(SCN5A):c.935-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2057896,2057896,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38608216:t:c|snv,True,False +3:38606042:TA:T,SCN5A,VCV002039747,2039747,NM_000335.5(SCN5A):c.1246del (p.Tyr416fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2039747,2039747,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38606042:ta:t|deletion,True,False +3:38620857:AC:A,SCN5A,VCV002036709,2036709,NM_000335.5(SCN5A):c.596del (p.Ser199fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2036709,2036709,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38620857:ac:a|deletion,True,False +3:38605976:ATGGCCTCC:A,SCN5A,VCV002031437,2031437,NM_000335.5(SCN5A):c.1305_1312del (p.Gln435fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2031437,2031437,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38605976:atggcctcc:a|deletion,True,False +3:38551074:C:G,SCN5A,VCV002027600,2027600,NM_000335.5(SCN5A):c.5295G>C (p.Met1765Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2027600,2027600,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38551074:c:g|snv,True,False +3:38633101:GC:G,SCN5A,VCV002027105,2027105,NM_000335.5(SCN5A):c.206del (p.Gly69fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2027105,2027105,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38633101:gc:g|deletion,True,False +3:38562414:C:A,SCN5A,VCV002026498,2026498,NM_000335.5(SCN5A):c.3960+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2026498,2026498,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38562414:c:a|snv,True,False +3:38585766:C:T,SCN5A,VCV002016715,2016715,NM_000335.5(SCN5A):c.2712G>A (p.Trp904Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2016715,2016715,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38585766:c:t|snv,True,False +3:38555656:C:CA,SCN5A,VCV002016359,2016359,NM_000335.5(SCN5A):c.4538dup (p.Asn1514fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2016359,2016359,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38555656:c:ca|duplication,True,False +3:38630430:CTGGGGACA:C,SCN5A,VCV002011754,2011754,NM_000335.5(SCN5A):c.274-9_274-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2011754,2011754,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38630430:ctggggaca:c|deletion,True,False +3:38580930:C:G,SCN5A,VCV001937049,1937049,NM_000335.5(SCN5A):c.3228+1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1937049,1937049,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38580930:c:g|snv,True,False +3:38633203:G:GC,SCN5A,VCV001803812,1803812,NM_000335.5(SCN5A):c.104dup (p.Ser36fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1803812,1803812,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38633203:g:gc|duplication,True,False +3:38581161:G:A,SCN5A,VCV001798592,1798592,NM_000335.5(SCN5A):c.2998C>T (p.Gln1000Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1798592,1798592,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581161:g:a|snv,True,False +3:38581372:CT:C,SCN5A,VCV001795999,1795999,NM_000335.5(SCN5A):c.2788-2del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1795999,1795999,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581372:ct:c|deletion,True,False +3:38585957:TC:T,SCN5A,VCV001792542,1792542,NM_000335.5(SCN5A):c.2520del (p.Asn841fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1792542,1792542,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38585957:tc:t|deletion,True,False +3:38597737:C:G,SCN5A,VCV001788496,1788496,NM_000335.5(SCN5A):c.2254G>C (p.Gly752Arg),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1788496,1788496,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38597737:c:g|snv,True,False +3:38603923:G:C,SCN5A,VCV001777850,1777850,NM_000335.5(SCN5A):c.1679C>G (p.Ser560Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1777850,1777850,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38603923:g:c|snv,True,False +3:38604785:C:CCT,SCN5A,VCV001773144,1773144,NM_000335.5(SCN5A):c.1460_1461dup (p.Glu488fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1773144,1773144,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38604785:c:cct|duplication,True,False +3:38633214:G:A,SCN5A,VCV001767167,1767167,NM_000335.5(SCN5A):c.94C>T (p.Gln32Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1767167,1767167,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38633214:g:a|snv,True,False +3:38606058:CG:C,SCN5A,VCV001755450,1755450,NM_000335.5(SCN5A):c.1230del (p.Val411fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1755450,1755450,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38606058:cg:c|deletion,True,False +3:38633267:CG:C,SCN5A,VCV001737836,1737836,NM_000335.5(SCN5A):c.40del (p.Arg14fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1737836,1737836,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38633267:cg:c|deletion,True,False +3:38566552:TC:T,SCN5A,VCV001733997,1733997,NM_000335.5(SCN5A):c.3693del (p.Lys1232fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1733997,1733997,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38566552:tc:t|deletion,True,False +3:38579379:C:T,SCN5A,VCV001730458,1730458,NM_000335.5(SCN5A):c.3342G>A (p.Trp1114Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1730458,1730458,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38579379:c:t|snv,True,False +3:38579440:C:T,SCN5A,VCV001729777,1729777,NM_000335.5(SCN5A):c.3281G>A (p.Trp1094Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1729777,1729777,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38579440:c:t|snv,True,False +3:38633133:G:A,SCN5A,VCV001691761,1691761,NM_000335.5(SCN5A):c.175C>T (p.Gln59Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1691761,1691761,Brugada syndrome 1|Brugada syndrome,Brugada syndrome 1|Brugada syndrome,Brugada syndrome 1|Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38633133:g:a|snv,True,False +3:38575310:C:A,SCN5A,VCV001691220,1691220,NM_000335.5(SCN5A):c.3650G>T (p.Ser1217Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1691220,1691220,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38575310:c:a|snv,True,False +3:38581062:G:A,SCN5A,VCV001678156,1678156,NM_000335.5(SCN5A):c.3097C>T (p.Gln1033Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1678156,1678156,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581062:g:a|snv,True,False +3:38562426:C:A,SCN5A,VCV001678123,1678123,NM_000335.5(SCN5A):c.3949G>T (p.Glu1317Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1678123,1678123,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38562426:c:a|snv,True,False +3:38585800:C:A,SCN5A,VCV001527869,1527869,NM_000335.5(SCN5A):c.2678G>T (p.Arg893Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1527869,1527869,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38585800:c:a|snv,True,False +3:38606150:T:C,SCN5A,VCV001521971,1521971,NM_000335.5(SCN5A):c.1141-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1521971,1521971,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38606150:t:c|snv,True,False +3:38575295:A:G,SCN5A,VCV001510225,1510225,NM_000335.5(SCN5A):c.3663+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1510225,1510225,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38575295:a:g|snv,True,False +3:38576782:C:T,SCN5A,VCV001502792,1502792,NM_000335.5(SCN5A):c.3388-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1502792,1502792,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38576782:c:t|snv,True,False +3:38606667:A:C,SCN5A,VCV001502060,1502060,NM_000335.5(SCN5A):c.1140+2T>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1502060,1502060,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38606667:a:c|snv,True,False +3:38633040:G:A,SCN5A,VCV001460043,1460043,NM_000335.5(SCN5A):c.268C>T (p.Gln90Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1460043,1460043,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38633040:g:a|snv,True,False +3:38580984:G:A,SCN5A,VCV001458577,1458577,NM_000335.5(SCN5A):c.3175C>T (p.Gln1059Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1458577,1458577,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38580984:g:a|snv,True,False +3:38575387:C:T,SCN5A,VCV001458575,1458575,NM_000335.5(SCN5A):c.3573G>A (p.Trp1191Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1458575,1458575,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38575387:c:t|snv,True,False +3:38622396:TCACTCGACATA:T,SCN5A,VCV001455926,1455926,NM_000335.5(SCN5A):c.475_482+3del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1455926,1455926,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38622396:tcactcgacata:t|deletion,True,False +3:38581132:G:T,SCN5A,VCV001455755,1455755,NM_000335.5(SCN5A):c.3027C>A (p.Tyr1009Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1455755,1455755,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581132:g:t|snv,True,False +3:38604046:GA:G,SCN5A,VCV001455694,1455694,NM_000335.5(SCN5A):c.1555del (p.Ser519fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1455694,1455694,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38604046:ga:g|deletion,True,False +3:38597900:C:T,SCN5A,VCV001454071,1454071,NM_000335.5(SCN5A):c.2091G>A (p.Trp697Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1454071,1454071,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38597900:c:t|snv,True,False +3:38550922:AAGTC:A,SCN5A,VCV001452285,1452285,NM_000335.5(SCN5A):c.5443_5446del (p.Asp1815fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1452285,1452285,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38550922:aagtc:a|deletion,True,False +3:38556501:GA:G,SCN5A,VCV001451878,1451878,NM_000335.5(SCN5A):c.4373del (p.Phe1458fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1451878,1451878,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38556501:ga:g|deletion,True,False +3:38555697:GCTT:G,SCN5A,VCV001449654,1449654,NM_000335.5(SCN5A):c.4492AAG[1] (p.Lys1499del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1449654,1449654,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38555697:gctt:g|deletion,True,False +3:38556451:TGTTG:T,SCN5A,VCV001434817,1434817,NM_000335.5(SCN5A):c.4420_4423del (p.Gln1474fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1434817,1434817,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38556451:tgttg:t|deletion,True,False +3:38633091:G:A,SCN5A,VCV001408176,1408176,NM_000335.5(SCN5A):c.217C>T (p.Gln73Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1408176,1408176,Cardiovascular phenotype|Brugada syndrome (shorter-than-normal QT interval),Cardiovascular phenotype|Brugada syndrome (shorter-than-normal QT interval),Cardiovascular phenotype|Brugada syndrome (shorter-than-normal QT interval),variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38633091:g:a|snv,True,False +3:38604794:CT:C,SCN5A,VCV001406093,1406093,NM_000335.5(SCN5A):c.1452del (p.Gly485fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1406093,1406093,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38604794:ct:c|deletion,True,False +3:38581116:CTG:C,SCN5A,VCV001392890,1392890,NM_000335.5(SCN5A):c.3041_3042del (p.Pro1014fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1392890,1392890,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581116:ctg:c|deletion,True,False +3:38585944:A:AC,SCN5A,VCV001386100,1386100,NM_000335.5(SCN5A):c.2533dup (p.Val845fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1386100,1386100,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38585944:a:ac|duplication,True,False +3:38620876:C:T,SCN5A,VCV001374462,1374462,NM_000335.5(SCN5A):c.578G>A (p.Trp193Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1374462,1374462,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38620876:c:t|snv,True,False +3:38604012:GA:G,SCN5A,VCV001361908,1361908,NM_000335.5(SCN5A):c.1589del (p.Phe530fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1361908,1361908,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38604012:ga:g|deletion,True,False +3:38606811:C:T,SCN5A,VCV001348900,1348900,NM_000335.5(SCN5A):c.999-1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1348900,1348900,Cardiovascular phenotype||Familial sick sinus syndrome,Cardiovascular phenotype||Familial sick sinus syndrome,Cardiovascular phenotype||Familial sick sinus syndrome,variation_id,,,,representation_repairable,0.45,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38606811:c:t|snv,True,False +3:38613742:C:G,SCN5A,VCV001345786,1345786,NM_000335.5(SCN5A):c.703+1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1345786,1345786,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38613742:c:g|snv,True,False +3:38554274:C:T,SCN5A,VCV001326912,1326912,NM_000335.5(SCN5A):c.4810+5G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1326912,1326912,Brugada syndrome|Brugada syndrome 1,Brugada syndrome|Brugada syndrome 1,Brugada syndrome|Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38554274:c:t|snv,True,False +3:38608217:G:C,SCN5A,VCV001326908,1326908,NM_000335.5(SCN5A):c.935-3C>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1326908,1326908,Brugada syndrome|Brugada syndrome 1,Brugada syndrome|Brugada syndrome 1,Brugada syndrome|Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38608217:g:c|snv,True,False +3:38566425:T:C,SCN5A,VCV001326907,1326907,NM_000335.5(SCN5A):c.3821A>G (p.Asp1274Gly),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1326907,1326907,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38566425:t:c|snv,True,False +3:38556561:C:CT,SCN5A,VCV001299249,1299249,NM_000335.5(SCN5A):c.4313dup (p.Trp1439fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1299249,1299249,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38556561:c:ct|duplication,True,False +3:38587515:TA:T,SCN5A,VCV001285130,1285130,NM_000335.5(SCN5A):c.2320del (p.Tyr774fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1285130,1285130,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38587515:ta:t|deletion,True,False +3:38551459:C:A,SCN5A,VCV001188516,1188516,NM_000335.5(SCN5A):c.4910G>T (p.Arg1637Leu),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1188516,1188516,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38551459:c:a|snv,True,False +3:38597761:C:A,SCN5A,VCV001187556,1187556,NM_000335.5(SCN5A):c.2230G>T (p.Glu744Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1187556,1187556,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38597761:c:a|snv,True,False +3:38566483:GC:G,SCN5A,VCV001185878,1185878,NM_000335.5(SCN5A):c.3762del (p.Leu1255fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1185878,1185878,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,Cardiac arrhythmia|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38566483:gc:g|deletion,True,False +3:38609855:G:GAGCT,SCN5A,VCV001184975,1184975,NM_000335.5(SCN5A):c.809_812dup (p.Phe272fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1184975,1184975,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38609855:g:gagct|duplication,True,False +3:38581004:GC:G,SCN5A,VCV001076640,1076640,NM_000335.5(SCN5A):c.3154del (p.Ala1052fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1076640,1076640,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581004:gc:g|deletion,True,False +3:38576775:C:A,SCN5A,VCV001076635,1076635,NM_000335.5(SCN5A):c.3394G>T (p.Glu1132Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1076635,1076635,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38576775:c:a|snv,True,False +3:38566487:CA:C,SCN5A,VCV001076515,1076515,NM_000335.5(SCN5A):c.3758del (p.Met1253fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1076515,1076515,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38566487:ca:c|deletion,True,False +3:38609766:CA:C,SCN5A,VCV001076513,1076513,NM_000335.5(SCN5A):c.901del (p.Trp301fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1076513,1076513,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38609766:ca:c|deletion,True,False +3:38551532:T:A,SCN5A,VCV001075437,1075437,NM_000335.5(SCN5A):c.4837A>T (p.Lys1613Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,1075437,1075437,,,,unmatched,,,,unanchored,0.0,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38551532:t:a|snv,True,False +3:38560303:GC:G,SCN5A,VCV001073809,1073809,NM_000335.5(SCN5A):c.4085del (p.Cys1362fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1073809,1073809,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38560303:gc:g|deletion,True,False +3:38556554:A:AT,SCN5A,VCV001073629,1073629,NM_000335.5(SCN5A):c.4320dup (p.Tyr1441fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1073629,1073629,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38556554:a:at|duplication,True,False +3:38585860:G:C,SCN5A,VCV001072446,1072446,NM_000335.5(SCN5A):c.2618C>G (p.Ser873Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1072446,1072446,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38585860:g:c|snv,True,False +3:38630368:T:TA,SCN5A,VCV001071777,1071777,NM_000335.5(SCN5A):c.334dup (p.Tyr112fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1071777,1071777,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38630368:t:ta|duplication,True,False +3:38581107:T:A,SCN5A,VCV001069115,1069115,NM_000335.5(SCN5A):c.3052A>T (p.Lys1018Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1069115,1069115,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581107:t:a|snv,True,False +3:38557230:C:A,SCN5A,VCV001068181,1068181,NM_000335.5(SCN5A):c.4296+1G>T,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1068181,1068181,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38557230:c:a|snv,True,False +3:38597968:C:T,SCN5A,VCV001067586,1067586,NM_000335.5(SCN5A):c.2024-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1067586,1067586,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38597968:c:t|snv,True,False +3:38560428:C:A,SCN5A,VCV001066010,1066010,NM_000335.5(SCN5A):c.3961G>T (p.Val1321Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1066010,1066010,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38560428:c:a|snv,True,False +3:38557232:CCCCTGGAGTCCACAGCTGCATACATAATGT:C,SCN5A,VCV001012143,1012143,NM_000335.5(SCN5A):c.4265_4294del (p.Asp1422_Arg1431del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1012143,1012143,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38557232:cccctggagtccacagctgcatacataatgt:c|deletion,True,False +3:38633253:C:A,SCN5A,VCV000988404,988404,NM_000335.5(SCN5A):c.55G>T (p.Glu19Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,988404,988404,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38633253:c:a|snv,True,False +3:38554550:C:A,SCN5A,VCV000987436,987436,NM_000335.5(SCN5A):c.4540-1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,987436,987436,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38554550:c:a|snv,True,False +3:38613835:C:T,SCN5A,VCV000984516,984516,NM_000335.5(SCN5A):c.612-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,984516,984516,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38613835:c:t|snv,True,False +3:38550925:TCAGA:T,SCN5A,VCV000984492,984492,NM_000335.5(SCN5A):c.5440_5443del (p.Ser1814fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,984492,984492,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38550925:tcaga:t|deletion,True,False +3:38585689:A:T,SCN5A,VCV000979203,979203,NM_000335.5(SCN5A):c.2787+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,979203,979203,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,unanchored,0.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38585689:a:t|snv,True,False +3:38587500:TG:T,SCN5A,VCV000979075,979075,NM_000335.5(SCN5A):c.2335del (p.Gln779fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,979075,979075,Long QT syndrome 3;Brugada syndrome 1,Long QT syndrome 3;Brugada syndrome 1,Long QT syndrome 3;Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38587500:tg:t|deletion,True,False +3:38585996:G:C,SCN5A,VCV000978725,978725,NM_000335.5(SCN5A):c.2482C>G (p.Leu828Val),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,978725,978725,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38585996:g:c|snv,True,False +3:38606091:C:A,SCN5A,VCV000972696,972696,NM_000335.5(SCN5A):c.1198G>T (p.Gly400Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,972696,972696,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38606091:c:a|snv,True,False +3:38598978:C:A,SCN5A,VCV000972691,972691,NM_000335.5(SCN5A):c.1963G>T (p.Glu655Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,972691,972691,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38598978:c:a|snv,True,False +3:38585901:CT:C,SCN5A,VCV000970218,970218,NM_000335.5(SCN5A):c.2576del (p.Gln859fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,970218,970218,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38585901:ct:c|deletion,True,False +3:38581298:CT:C,SCN5A,VCV000961103,961103,NM_000335.5(SCN5A):c.2860del (p.Arg954fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,961103,961103,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38581298:ct:c|deletion,True,False +3:38633176:CT:C,SCN5A,VCV000956404,956404,NM_000335.5(SCN5A):c.131del (p.Glu44fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,956404,956404,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38633176:ct:c|deletion,True,False +3:38560264:G:GGT,SCN5A,VCV000952177,952177,NM_000335.5(SCN5A):c.4123_4124dup (p.Ile1376fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,952177,952177,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38560264:g:ggt|duplication,True,False +3:38581117:T:TGGGGGTGGCGGGGAGTA,SCN5A,VCV000944678,944678,NM_000335.5(SCN5A):c.3025_3041dup (p.Glu1015fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,944678,944678,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581117:t:tgggggtggcggggagta|duplication,True,False +3:38620865:C:G,SCN5A,VCV000942054,942054,NM_000335.5(SCN5A):c.589G>C (p.Asp197His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,942054,942054,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38620865:c:g|snv,True,False +3:38581343:A:G,SCN5A,VCV000940929,940929,NM_000335.5(SCN5A):c.2816T>C (p.Leu939Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,940929,940929,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581343:a:g|snv,True,False +3:38613743:CT:C,SCN5A,VCV000937538,937538,NM_000335.5(SCN5A):c.702del (p.Gly235_Leu236insTer),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,937538,937538,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38613743:ct:c|deletion,True,False +3:38606062:C:CTATG,SCN5A,VCV000936474,936474,NM_000335.5(SCN5A):c.1226_1227insCATA (p.Ala410fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,936474,936474,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38606062:c:ctatg|insertion,True,False +3:38633118:GC:G,SCN5A,VCV000928434,928434,NM_000335.5(SCN5A):c.189del (p.Lys63fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,928434,928434,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38633118:gc:g|deletion,True,False +3:38551050:GT:G,SCN5A,VCV000927104,927104,NM_000335.5(SCN5A):c.5318del (p.Asn1773fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,927104,927104,Cardiac arrhythmia,Cardiac arrhythmia,Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38551050:gt:g|deletion,True,False +3:38562413:A:ACCCTCATG,SCN5A,VCV000927012,927012,NM_000335.5(SCN5A):c.3954_3960+1dup,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,927012,927012,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,Cardiac arrhythmia|Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38562413:a:accctcatg|duplication,True,False +3:38562476:GA:G,SCN5A,VCV000917995,917995,NM_000335.5(SCN5A):c.3898del (p.Ser1300fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,917995,917995,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38562476:ga:g|deletion,True,False +3:38585735:AT:A,SCN5A,VCV000863801,863801,NM_000335.5(SCN5A):c.2742del (p.Leu914fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,863801,863801,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38585735:at:a|deletion,True,False +3:38562529:CAG:C,SCN5A,VCV000858385,858385,NM_000335.5(SCN5A):c.3844_3845del (p.Leu1282fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,858385,858385,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38562529:cag:c|deletion,True,False +3:38550877:TG:T,SCN5A,VCV000856890,856890,NM_000335.5(SCN5A):c.5491del (p.Gln1831fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,856890,856890,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38550877:tg:t|deletion,True,False +3:38550990:GA:G,SCN5A,VCV000853346,853346,NM_000335.5(SCN5A):c.5378del (p.Phe1793fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,853346,853346,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38550990:ga:g|deletion,True,False +3:38620877:AT:A,SCN5A,VCV000851951,851951,NM_000335.5(SCN5A):c.576del (p.Trp193fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,851951,851951,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38620877:at:a|deletion,True,False +3:38587575:T:C,SCN5A,VCV000851217,851217,NM_000335.5(SCN5A):c.2263-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,851217,851217,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,Brugada syndrome|Cardiac arrhythmia,variation_id,,,,representation_repairable,0.45,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38587575:t:c|snv,True,False +3:38622405:A:C,SCN5A,VCV000850294,850294,NM_000335.5(SCN5A):c.477T>G (p.Tyr159Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,850294,850294,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38622405:a:c|snv,True,False +3:38633190:G:A,SCN5A,VCV000848941,848941,NM_000335.5(SCN5A):c.118C>T (p.Gln40Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,848941,848941,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38633190:g:a|snv,True,False +3:38560209:AG:A,SCN5A,VCV000848007,848007,NM_000335.5(SCN5A):c.4179del (p.Trp1394fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,848007,848007,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38560209:ag:a|deletion,True,False +3:38575452:C:T,SCN5A,VCV000847226,847226,NM_000335.5(SCN5A):c.3509-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,847226,847226,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38575452:c:t|snv,True,False +3:38581258:CT:C,SCN5A,VCV000845474,845474,NM_000335.5(SCN5A):c.2900del (p.Gln967fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,845474,845474,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581258:ct:c|deletion,True,False +3:38606705:CA:C,SCN5A,VCV000844438,844438,NM_000335.5(SCN5A):c.1103del (p.Leu368fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,844438,844438,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38606705:ca:c|deletion,True,False +3:38554381:A:G,SCN5A,VCV000830371,830371,NM_000335.5(SCN5A):c.4708T>C (p.Phe1570Leu),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,exact_match,exact_match_without_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,830371,830371,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,unanchored,0.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38554381:a:g|snv,True,False +3:38562436:CAG:C,SCN5A,VCV000817608,817608,NM_000335.5(SCN5A):c.3937_3938del (p.Leu1313fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,817608,817608,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38562436:cag:c|deletion,True,False +3:38603945:C:A,SCN5A,VCV000811838,811838,NM_000335.5(SCN5A):c.1657G>T (p.Glu553Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,811838,811838,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38603945:c:a|snv,True,False +3:38576715:G:A,SCN5A,VCV000801959,801959,NM_000335.5(SCN5A):c.3454C>T (p.Gln1152Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,801959,801959,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38576715:g:a|snv,True,False +3:38554372:C:A,SCN5A,VCV000691966,691966,NM_000335.5(SCN5A):c.4717G>T (p.Glu1573Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,691966,691966,Brugada syndrome 1|Cardiac arrhythmia|Brugada syndrome,Brugada syndrome 1|Cardiac arrhythmia|Brugada syndrome,Brugada syndrome 1|Cardiac arrhythmia|Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada|arrhythmia,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38554372:c:a|snv,True,False +3:38557229:A:AC,SCN5A,VCV000691705,691705,NM_000335.5(SCN5A):c.4296+1dup,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,691705,691705,Ventricular tachycardia,Ventricular tachycardia,Ventricular tachycardia,variation_id,,,,representation_repairable,0.45,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38557229:a:ac|duplication,True,False +3:38551515:CG:C,SCN5A,VCV000689494,689494,NM_000335.5(SCN5A):c.4853del (p.Pro1618fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,689494,689494,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38551515:cg:c|deletion,True,False +3:38557286:T:C,SCN5A,VCV000667016,667016,NM_000335.5(SCN5A):c.4243-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,667016,667016,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38557286:t:c|snv,True,False +3:38575390:C:T,SCN5A,VCV000660776,660776,NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,660776,660776,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,unanchored,0.0,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38575390:c:t|snv,True,False +3:38587537:T:TG,SCN5A,VCV000654856,654856,NM_000335.5(SCN5A):c.2298dup (p.Lys767fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,654856,654856,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38587537:t:tg|duplication,True,False +3:38606674:G:A,SCN5A,VCV000641344,641344,NM_000335.5(SCN5A):c.1135C>T (p.Gln379Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,641344,641344,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38606674:g:a|snv,True,False +3:38555735:G:T,SCN5A,VCV000637991,637991,NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,637991,637991,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38555735:g:t|snv,True,False +3:38606743:C:A,SCN5A,VCV000637989,637989,NM_000335.5(SCN5A):c.1066G>T (p.Asp356Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,637989,637989,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38606743:c:a|snv,True,False +3:38581213:A:T,SCN5A,VCV000633410,633410,NM_000335.5(SCN5A):c.2946T>A (p.Cys982Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,633410,633410,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38581213:a:t|snv,True,False +3:38566565:G:C,SCN5A,VCV000632980,632980,NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,632980,632980,Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),Brugada syndrome (shorter-than-normal QT interval),variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38566565:g:c|snv,True,False +3:38556566:G:A,SCN5A,VCV000598785,598785,NM_000335.5(SCN5A):c.4309C>T (p.Pro1437Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,598785,598785,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38556566:g:a|snv,True,False +3:38622447:G:T,SCN5A,VCV000598784,598784,NM_000335.5(SCN5A):c.435C>A (p.Cys145Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,598784,598784,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38622447:g:t|snv,True,False +3:38550986:C:A,SCN5A,VCV000583354,583354,NM_000335.5(SCN5A):c.5383G>T (p.Glu1795Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,583354,583354,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38550986:c:a|snv,True,False +3:38554434:CT:C,SCN5A,VCV000582177,582177,NM_000335.5(SCN5A):c.4654del (p.Ser1552fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,582177,582177,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38554434:ct:c|deletion,True,False +3:38555665:T:TGGG,SCN5A,VCV000581866,581866,NM_000335.5(SCN5A):c.4527_4529dup (p.Pro1510dup),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,581866,581866,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38555665:t:tggg|duplication,True,False +3:38550986:CAT:C,SCN5A,VCV000579734,579734,NM_000335.5(SCN5A):c.5381_5382del (p.Phe1793_Tyr1794insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,579734,579734,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38550986:cat:c|deletion,True,False +3:38550773:C:A,SCN5A,VCV000572957,572957,NM_000335.5(SCN5A):c.5596G>T (p.Glu1866Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,572957,572957,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38550773:c:a|snv,True,False +3:38551007:CCTCA:C,SCN5A,VCV000572252,572252,NM_000335.5(SCN5A):c.5358_5361del (p.Ser1786fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,572252,572252,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38551007:cctca:c|deletion,True,False +3:38609920:G:C,SCN5A,VCV000572011,572011,NM_000335.5(SCN5A):c.748C>G (p.Leu250Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,572011,572011,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38609920:g:c|snv,True,False +3:38551093:A:C,SCN5A,VCV000571408,571408,NM_000335.5(SCN5A):c.5276T>G (p.Phe1759Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,571408,571408,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38551093:a:c|snv,True,False +3:38555727:G:A,SCN5A,VCV000560692,560692,NM_000335.5(SCN5A):c.4468C>T (p.Gln1490Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,560692,560692,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38555727:g:a|snv,True,False +3:38603988:AC:A,SCN5A,VCV000523568,523568,NM_000335.5(SCN5A):c.1613del (p.Gly538fs),Pathogenic/Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,523568,523568,Sick sinus syndrome 1|Cardiac arrhythmia,Sick sinus syndrome 1|Cardiac arrhythmia,Sick sinus syndrome 1|Cardiac arrhythmia,variation_id,,,,locus_or_regional_context,0.25,arrhythmia|conduction,assertion_condition_label,2,1.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38603988:ac:a|deletion,True,False +3:38581191:G:A,SCN5A,VCV000520461,520461,NM_000335.5(SCN5A):c.2968C>T (p.Gln990Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,520461,520461,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581191:g:a|snv,True,False +3:38566437:C:T,SCN5A,VCV000519554,519554,NM_000335.5(SCN5A):c.3809G>A (p.Trp1270Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519554,519554,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38566437:c:t|snv,True,False +3:38579461:GC:G,SCN5A,VCV000519464,519464,NM_000335.5(SCN5A):c.3259del (p.Ala1087fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519464,519464,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38579461:gc:g|deletion,True,False +3:38598917:C:T,SCN5A,VCV000519460,519460,NM_000335.5(SCN5A):c.2023+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519460,519460,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38598917:c:t|snv,True,False +3:38556493:AG:A,SCN5A,VCV000519429,519429,NM_000335.5(SCN5A):c.4381del (p.Thr1460_Leu1461insTer),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,519429,519429,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38556493:ag:a|deletion,True,False +3:38551074:C:T,SCN5A,VCV000519384,519384,NM_000335.5(SCN5A):c.5295G>A (p.Met1765Ile),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519384,519384,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38551074:c:t|snv,True,False +3:38586012:C:T,SCN5A,VCV000505895,505895,NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,505895,505895,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38586012:c:t|snv,True,False +3:38609966:T:C,SCN5A,VCV000505834,505834,NM_000335.5(SCN5A):c.704-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,505834,505834,Brugada syndrome||Cardiovascular phenotype,Brugada syndrome||Cardiovascular phenotype,Brugada syndrome||Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38609966:t:c|snv,True,False +3:38575452:C:G,SCN5A,VCV000496573,496573,NM_000335.5(SCN5A):c.3509-1G>C,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,496573,496573,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,Long QT syndrome 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38575452:c:g|snv,True,False +3:38562501:AG:A,SCN5A,VCV000463332,463332,NM_000335.5(SCN5A):c.3873del (p.Phe1292fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463332,463332,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38562501:ag:a|deletion,True,False +3:38581077:AC:A,SCN5A,VCV000463318,463318,NM_000335.5(SCN5A):c.3081del (p.Phe1028fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,463318,463318,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581077:ac:a|deletion,True,False +3:38633104:A:T,SCN5A,VCV000463308,463308,NM_000335.5(SCN5A):c.204T>A (p.Tyr68Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,463308,463308,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38633104:a:t|snv,True,False +3:38606688:C:T,SCN5A,VCV000463292,463292,NM_000335.5(SCN5A):c.1121G>A (p.Trp374Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463292,463292,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38606688:c:t|snv,True,False +3:38550909:CAG:C,SCN5A,VCV000452184,452184,NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,452184,452184,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38550909:cag:c|deletion,True,False +3:38622414:C:T,SCN5A,VCV000448976,448976,NM_000335.5(SCN5A):c.468G>A (p.Trp156Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,448976,448976,Brugada syndrome 1,Brugada syndrome 1,Brugada syndrome 1,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38622414:c:t|snv,True,False +3:38551076:T:A,SCN5A,VCV000446418,446418,NM_000335.5(SCN5A):c.5293A>T (p.Met1765Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,446418,446418,Long QT syndrome 3,Long QT syndrome 3,Long QT syndrome 3,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38551076:t:a|snv,True,False +3:38560392:TGGACG:T,SCN5A,VCV000432733,432733,NM_000335.5(SCN5A):c.3992_3996del (p.Pro1331fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,432733,432733,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38560392:tggacg:t|deletion,True,False +3:38622491:T:C,SCN5A,VCV000432148,432148,NM_000335.5(SCN5A):c.393-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,432148,432148,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38622491:t:c|snv,True,False +3:38560245:G:A,SCN5A,VCV000431948,431948,NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,431948,431948,Cardiovascular phenotype|Brugada syndrome,Cardiovascular phenotype|Brugada syndrome,Cardiovascular phenotype|Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38560245:g:a|snv,True,False +3:38633204:CCG:C,SCN5A,VCV000429979,429979,NM_000335.5(SCN5A):c.102_103del (p.Gly35fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,429979,429979,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38633204:ccg:c|deletion,True,False +3:38551289:G:A,SCN5A,VCV000426612,426612,NM_000335.5(SCN5A):c.5080C>T (p.Gln1694Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,426612,426612,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38551289:g:a|snv,True,False +3:38551181:TG:T,SCN5A,VCV000426254,426254,NM_000335.5(SCN5A):c.5187del (p.Thr1730fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,426254,426254,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38551181:tg:t|deletion,True,False +3:38560197:TC:T,SCN5A,VCV000423108,423108,NM_000335.5(SCN5A):c.4191del (p.Val1399fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,423108,423108,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38560197:tc:t|deletion,True,False +3:38579476:GA:G,SCN5A,VCV000422443,422443,NM_000335.5(SCN5A):c.3244del (p.Ser1082fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,422443,422443,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38579476:ga:g|deletion,True,False +3:38599020:G:A,SCN5A,VCV000421358,421358,NM_000335.5(SCN5A):c.1921C>T (p.Gln641Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,421358,421358,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38599020:g:a|snv,True,False +3:38550838:C:CCACT,SCN5A,VCV000420342,420342,NM_000335.5(SCN5A):c.5527_5530dup (p.Gly1844fs),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420342,420342,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38550838:c:ccact|duplication,True,False +3:38587501:G:GTTGGAAA,SCN5A,VCV000419109,419109,NM_000335.5(SCN5A):c.2334_2335insTTTCCAA (p.Gln779fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,419109,419109,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38587501:g:gttggaaa|insertion,True,False +3:38550944:C:A,SCN5A,VCV000406440,406440,NM_000335.5(SCN5A):c.5425G>T (p.Glu1809Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,406440,406440,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38550944:c:a|snv,True,False +3:38633203:GC:G,SCN5A,VCV000406435,406435,NM_000335.5(SCN5A):c.104del (p.Gly35fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406435,406435,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38633203:gc:g|deletion,True,False +3:38579439:C:T,SCN5A,VCV000406434,406434,NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406434,406434,Brugada syndrome||Brugada syndrome 1|Cardiovascular phenotype,Brugada syndrome||Brugada syndrome 1|Cardiovascular phenotype,Brugada syndrome||Brugada syndrome 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38579439:c:t|snv,True,False +3:38609764:C:A,SCN5A,VCV000406427,406427,NM_000335.5(SCN5A):c.904G>T (p.Glu302Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406427,406427,Cardiovascular phenotype|SCN5A-related disorder|Brugada syndrome (shorter-than-normal QT interval),Cardiovascular phenotype|SCN5A-related disorder|Brugada syndrome (shorter-than-normal QT interval),Cardiovascular phenotype|SCN5A-related disorder|Brugada syndrome (shorter-than-normal QT interval),variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38609764:c:a|snv,True,False +3:38581226:C:T,SCN5A,VCV000406426,406426,NM_000335.5(SCN5A):c.2933G>A (p.Trp978Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,406426,406426,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581226:c:t|snv,True,False +3:38581136:GGGGTGGCAATGCA:G,SCN5A,VCV000406419,406419,NM_000335.5(SCN5A):c.3010_3022del (p.Cys1004fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406419,406419,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38581136:ggggtggcaatgca:g|deletion,True,False +3:38550782:C:A,SCN5A,VCV000406418,406418,NM_000335.5(SCN5A):c.5587G>T (p.Glu1863Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,406418,406418,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38550782:c:a|snv,True,False +3:38550951:CTGAG:C,SCN5A,VCV000406415,406415,NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,406415,406415,Cardiovascular phenotype|8 conditions,Cardiovascular phenotype|8 conditions,Cardiovascular phenotype|8 conditions,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38550951:ctgag:c|deletion,True,False +3:38585842:C:T,SCN5A,VCV000406396,406396,NM_000335.5(SCN5A):c.2636G>A (p.Trp879Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,406396,406396,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38585842:c:t|snv,True,False +3:38597804:GAGT:G,SCN5A,VCV000403732,403732,NM_000335.5(SCN5A):c.2184_2186del (p.Leu729del),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,403732,403732,Familial isolated arrhythmogenic right ventricular dysplasia|Brugada syndrome 1,Familial isolated arrhythmogenic right ventricular dysplasia|Brugada syndrome 1,Familial isolated arrhythmogenic right ventricular dysplasia|Brugada syndrome 1,variation_id,,,,representation_repairable,0.45,Brugada|cardiomyopathy_overlap,assertion_condition_label,2,1.0,Brugada,structural_electrical,0.7,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,3:38597804:gagt:g|deletion,True,False +3:38633034:C:T,SCN5A,VCV000392337,392337,NM_000335.5(SCN5A):c.273+1G>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,392337,392337,Cervical cancer,Cervical cancer,Cervical cancer,variation_id,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38633034:c:t|snv,True,False +3:38551459:C:G,SCN5A,VCV000389150,389150,NM_000335.5(SCN5A):c.4910G>C (p.Arg1637Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,389150,389150,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38551459:c:g|snv,True,False +3:38606034:G:A,SCN5A,VCV000374130,374130,NM_000335.5(SCN5A):c.1255C>T (p.Gln419Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6637931034482759,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,374130,374130,Syncope,Syncope,Syncope,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS|SADS|conduction,gene_context_fallback,4,2.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,pleiotropic_channelopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,3:38606034:g:a|snv,True,False +21:34449542:GGCCAGGCCCGACATGTT:G,KCNE1,VCV004724223,4724223,NM_000219.6(KCNE1):c.76_92del (p.Asn26fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4724223,4724223,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,21:34449542:ggccaggcccgacatgtt:g|deletion,True,False +21:34449512:CT:C,KCNE1,VCV003601178,3601178,NM_000219.6(KCNE1):c.122del (p.Lys41fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3601178,3601178,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,Jervell and Lange-Nielsen syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,21:34449512:ct:c|deletion,True,False +21:34449404:TG:T,KCNE1,VCV001415503,1415503,NM_000219.6(KCNE1):c.230del (p.Pro77fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1415503,1415503,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,21:34449404:tg:t|deletion,True,False +21:34449611:C:CGCTG,KCNE1,VCV001343372,1343372,NM_000219.6(KCNE1):c.20_23dup (p.Val9fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.4166666666666667,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1343372,1343372,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS,gene_context_fallback,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,21:34449611:c:cgctg|duplication,True,False +21:34449634:T:A,KCNE1,VCV001065921,1065921,NM_000219.6(KCNE1):c.1A>T (p.Met1Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1065921,1065921,Long QT syndrome|Long QT syndrome 5,Long QT syndrome|Long QT syndrome 5,Long QT syndrome|Long QT syndrome 5,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,21:34449634:t:a|snv,True,False +21:34449540:C:CG,KCNE1,VCV000812588,812588,NM_000219.6(KCNE1):c.94dup (p.Arg32fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,812588,812588,Long QT syndrome;Hereditary hearing loss and deafness,Long QT syndrome;Hereditary hearing loss and deafness,Long QT syndrome;Hereditary hearing loss and deafness,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,21:34449540:c:cg|duplication,True,False +21:34449367:T:A,KCNE1,VCV000620398,620398,NM_000219.6(KCNE1):c.268A>T (p.Lys90Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,620398,620398,Long QT syndrome 5,Long QT syndrome 5,Long QT syndrome 5,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,21:34449367:t:a|snv,True,False +21:34449429:TTGGA:T,KCNE1,VCV000527017,527017,NM_000219.6(KCNE1):c.202_205del (p.Ser68fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.4166666666666667,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,527017,527017,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,21:34449429:ttgga:t|deletion,True,False +21:34449406:GGT:TAGA,KCNE1,VCV000441101,441101,NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.4166666666666667,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,441101,441101,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,Long QT syndrome|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,channelopathy,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,21:34449406:ggt:taga|insertion,True,False +1:237784024:C:A,RYR2,VCV004814200,4814200,NM_001035.3(RYR2):c.12312C>A (p.Asn4104Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4814200,4814200,RYR2-related disorder,RYR2-related disorder,RYR2-related disorder,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237784024:c:a|snv,True,False +1:237808911:C:T,RYR2,VCV004800130,4800130,NM_001035.3(RYR2):c.14309C>T (p.Thr4770Ile),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4800130,4800130,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237808911:c:t|snv,True,False +1:237784290:G:T,RYR2,VCV004800118,4800118,NM_001035.3(RYR2):c.12578G>T (p.Cys4193Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4800118,4800118,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237784290:g:t|snv,True,False +1:237783729:C:T,RYR2,VCV004800115,4800115,NM_001035.3(RYR2):c.12017C>T (p.Ser4006Phe),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4800115,4800115,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237783729:c:t|snv,True,False +1:237707057:A:G,RYR2,VCV004800104,4800104,NM_001035.3(RYR2):c.9689A>G (p.Gln3230Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4800104,4800104,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237707057:a:g|snv,True,False +1:237633707:C:A,RYR2,VCV004800083,4800083,NM_001035.3(RYR2):c.6685C>A (p.Leu2229Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4800083,4800083,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237633707:c:a|snv,True,False +1:237778718:C:A,RYR2,VCV004697937,4697937,NM_001035.3(RYR2):c.11828C>A (p.Ala3943Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4697937,4697937,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237778718:c:a|snv,True,False +1:237778727:G:T,RYR2,VCV004614849,4614849,NM_001035.3(RYR2):c.11837G>T (p.Gly3946Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4614849,4614849,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237778727:g:t|snv,True,False +1:237441455:CCGTGAGAATGGGATCTATACAACGTAAGGTAAGGTGATAGAAAAAAACATAATTTATAGAAGTAATTTTTTATGAATACACAAGCACAAG:C,RYR2,VCV004542511,4542511,NM_001035.3(RYR2):c.1143_1170+62del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4542511,4542511,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237441455:ccgtgagaatgggatctatacaacgtaaggtaaggtgatagaaaaaaacataatttatagaagtaattttttatgaatacacaagcacaag:c|deletion,True,False +1:237784242:T:G,RYR2,VCV004537880,4537880,NM_001035.3(RYR2):c.12530T>G (p.Val4177Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4537880,4537880,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237784242:t:g|snv,True,False +1:237783938:G:A,RYR2,VCV004531406,4531406,NM_001035.3(RYR2):c.12226G>A (p.Glu4076Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531406,4531406,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237783938:g:a|snv,True,False +1:237441383:G:T,RYR2,VCV004291726,4291726,NM_001035.3(RYR2):c.1070G>T (p.Gly357Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4291726,4291726,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237441383:g:t|snv,True,False +1:237387326:C:T,RYR2,VCV004071994,4071994,NM_001035.3(RYR2):c.622C>T (p.Gln208Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4071994,4071994,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237387326:c:t|snv,True,False +1:237793907:G:T,RYR2,VCV003949071,3949071,NM_001035.3(RYR2):c.13823G>T (p.Arg4608Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3949071,3949071,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237793907:g:t|snv,True,False +1:237441275:TTTTTGAAATGTTTACTGACCTTTTTTTCCTCCTCTCCCCTTAGGA:ATTTTG,RYR2,VCV003901845,3901845,NM_001035.3(RYR2):c.1006-44_1007delinsATTTTG,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3901845,3901845,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237441275:tttttgaaatgtttactgacctttttttcctcctctccccttagga:attttg|deletion,True,False +1:237819130:G:T,RYR2,VCV003895065,3895065,NM_001035.3(RYR2):c.14528G>T (p.Arg4843Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3895065,3895065,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237819130:g:t|snv,True,False +1:237801912:A:G,RYR2,VCV003894941,3894941,NM_001035.3(RYR2):c.14147A>G (p.Asp4716Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3894941,3894941,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237801912:a:g|snv,True,False +1:237648501:C:T,RYR2,VCV003894655,3894655,NM_001035.3(RYR2):c.7400C>T (p.Ala2467Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894655,3894655,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237648501:c:t|snv,True,False +1:237377353:C:A,RYR2,VCV003776659,3776659,NM_001035.3(RYR2):c.494C>A (p.Ala165Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3776659,3776659,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237377353:c:a|snv,True,False +1:237783971:T:C,RYR2,VCV003766443,3766443,NM_001035.3(RYR2):c.12259T>C (p.Phe4087Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,3766443,3766443,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,unanchored,0.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237783971:t:c|snv,True,False +1:237798092:G:A,RYR2,VCV003633845,3633845,NM_001035.3(RYR2):c.14012G>A (p.Gly4671Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3633845,3633845,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237798092:g:a|snv,True,False +1:237784143:G:T,RYR2,VCV003633837,3633837,NM_001035.3(RYR2):c.12431G>T (p.Arg4144Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3633837,3633837,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237784143:g:t|snv,True,False +1:237639059:A:G,RYR2,VCV003633806,3633806,NM_001035.3(RYR2):c.6973A>G (p.Ile2325Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3633806,3633806,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237639059:a:g|snv,True,False +1:237784233:T:C,RYR2,VCV003572967,3572967,NM_001035.3(RYR2):c.12521T>C (p.Phe4174Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3572967,3572967,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237784233:t:c|snv,True,False +1:237640950:C:T,RYR2,VCV003544417,3544417,NM_001035.3(RYR2):c.7169C>T (p.Thr2390Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3544417,3544417,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237640950:c:t|snv,True,False +1:237638457:A:G,RYR2,VCV003544409,3544409,NM_001035.3(RYR2):c.6893A>G (p.Tyr2298Cys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3544409,3544409,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237638457:a:g|snv,True,False +1:237778684:C:G,RYR2,VCV003391121,3391121,NM_001035.3(RYR2):c.11794C>G (p.Gln3932Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3391121,3391121,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,1:237778684:c:g|snv,True,False +1:237808910:A:G,RYR2,VCV003383138,3383138,NM_001035.3(RYR2):c.14308A>G (p.Thr4770Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3383138,3383138,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237808910:a:g|snv,True,False +1:237727196:C:T,RYR2,VCV003382069,3382069,NM_001035.3(RYR2):c.10835C>T (p.Pro3612Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3382069,3382069,Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237727196:c:t|snv,True,False +1:237640956:A:T,RYR2,VCV003338338,3338338,NM_001035.3(RYR2):c.7175A>T (p.Tyr2392Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3338338,3338338,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237640956:a:t|snv,True,False +1:237806143:C:T,RYR2,VCV003337537,3337537,NM_001035.3(RYR2):c.14158C>T (p.Leu4720Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3337537,3337537,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237806143:c:t|snv,True,False +1:237708886:GAAAC:G,RYR2,VCV003065287,3065287,NM_001035.3(RYR2):c.9931_9934del (p.Lys3311fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3065287,3065287,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,1:237708886:gaaac:g|deletion,True,False +1:237819075:G:A,RYR2,VCV002920176,2920176,NM_001035.3(RYR2):c.14473G>A (p.Gly4825Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2920176,2920176,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237819075:g:a|snv,True,False +1:237638437:C:A,RYR2,VCV002883988,2883988,NM_001035.3(RYR2):c.6873C>A (p.Asn2291Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2883988,2883988,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237638437:c:a|snv,True,False +1:237643382:T:G,RYR2,VCV002865610,2865610,NM_001035.3(RYR2):c.7277T>G (p.Leu2426Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2865610,2865610,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237643382:t:g|snv,True,False +1:237638462:G:C,RYR2,VCV002840453,2840453,NM_001035.3(RYR2):c.6898G>C (p.Asp2300His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2840453,2840453,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237638462:g:c|snv,True,False +1:237445429:A:G,RYR2,VCV002806184,2806184,NM_001035.3(RYR2):c.1199A>G (p.Asp400Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2806184,2806184,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237445429:a:g|snv,True,False +1:237793882:T:A,RYR2,VCV002758112,2758112,NM_001035.3(RYR2):c.13798T>A (p.Phe4600Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,2758112,2758112,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,unanchored,0.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237793882:t:a|snv,True,False +1:237784223:C:G,RYR2,VCV002747580,2747580,NM_001035.3(RYR2):c.12511C>G (p.Gln4171Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2747580,2747580,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237784223:c:g|snv,True,False +1:237648521:A:G,RYR2,VCV002734117,2734117,NM_001035.3(RYR2):c.7420A>G (p.Arg2474Gly),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2734117,2734117,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237648521:a:g|snv,True,False +1:237783984:C:G,RYR2,VCV002727021,2727021,NM_001035.3(RYR2):c.12272C>G (p.Ala4091Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2727021,2727021,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237783984:c:g|snv,True,False +1:237832640:T:C,RYR2,VCV002719667,2719667,NM_001035.3(RYR2):c.14897T>C (p.Leu4966Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2719667,2719667,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237832640:t:c|snv,True,False +1:237377426:A:C,RYR2,VCV002707246,2707246,NM_001035.3(RYR2):c.567A>C (p.Glu189Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2707246,2707246,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237377426:a:c|snv,True,False +1:237784131:G:C,RYR2,VCV002587823,2587823,NM_001035.3(RYR2):c.12419G>C (p.Gly4140Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2587823,2587823,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237784131:g:c|snv,True,False +1:237638403:T:C,RYR2,VCV002575972,2575972,NM_001035.3(RYR2):c.6839T>C (p.Leu2280Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575972,2575972,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237638403:t:c|snv,True,False +1:237806282:A:C,RYR2,VCV002500749,2500749,NM_001035.3(RYR2):c.14297A>C (p.Gln4766Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2500749,2500749,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237806282:a:c|snv,True,False +1:237778695:G:C,RYR2,VCV002441802,2441802,NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2441802,2441802,Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia|cardiomyopathy_overlap,assertion_condition_label,3,1.584962500721156,CPVT,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237778695:g:c|snv,True,False +1:237784307:G:C,RYR2,VCV002435632,2435632,NM_001035.3(RYR2):c.12595G>C (p.Glu4199Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2435632,2435632,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237784307:g:c|snv,True,False +1:237783728:T:A,RYR2,VCV002433112,2433112,NM_001035.3(RYR2):c.12016T>A (p.Ser4006Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2433112,2433112,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237783728:t:a|snv,True,False +1:237377349:C:T,RYR2,VCV002203006,2203006,NM_001035.3(RYR2):c.490C>T (p.Pro164Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2203006,2203006,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237377349:c:t|snv,True,False +1:237784187:C:A,RYR2,VCV002169498,2169498,NM_001035.3(RYR2):c.12475C>A (p.Gln4159Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2169498,2169498,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237784187:c:a|snv,True,False +1:237633624:G:A,RYR2,VCV002151921,2151921,NM_001035.3(RYR2):c.6602G>A (p.Cys2201Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2151921,2151921,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237633624:g:a|snv,True,False +1:237808913:G:T,RYR2,VCV002125455,2125455,NM_001035.3(RYR2):c.14311G>T (p.Val4771Phe),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2125455,2125455,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237808913:g:t|snv,True,False +1:237783980:C:G,RYR2,VCV002120716,2120716,NM_001035.3(RYR2):c.12268C>G (p.Pro4090Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2120716,2120716,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237783980:c:g|snv,True,False +1:237643361:T:C,RYR2,VCV002105630,2105630,NM_001035.3(RYR2):c.7256T>C (p.Ile2419Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2105630,2105630,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237643361:t:c|snv,True,False +1:237638480:G:T,RYR2,VCV002101383,2101383,NM_001035.3(RYR2):c.6916G>T (p.Val2306Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2101383,2101383,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237638480:g:t|snv,True,False +1:237445429:A:C,RYR2,VCV002075220,2075220,NM_001035.3(RYR2):c.1199A>C (p.Asp400Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2075220,2075220,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237445429:a:c|snv,True,False +1:237633654:A:C,RYR2,VCV002018903,2018903,NM_001035.3(RYR2):c.6632A>C (p.Gln2211Pro),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2018903,2018903,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237633654:a:c|snv,True,False +1:237784233:T:A,RYR2,VCV001997174,1997174,NM_001035.3(RYR2):c.12521T>A (p.Phe4174Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1997174,1997174,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237784233:t:a|snv,True,False +1:237784034:C:T,RYR2,VCV001932217,1932217,NM_001035.3(RYR2):c.12322C>T (p.His4108Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1932217,1932217,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237784034:c:t|snv,True,False +1:237445474:C:T,RYR2,VCV001805497,1805497,NM_001035.3(RYR2):c.1244C>T (p.Thr415Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1805497,1805497,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237445474:c:t|snv,True,False +1:237270587:T:C,RYR2,VCV001805396,1805396,NM_001035.3(RYR2):c.139T>C (p.Cys47Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1805396,1805396,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237270587:t:c|snv,True,False +1:237832604:C:G,RYR2,VCV001773663,1773663,NM_001035.3(RYR2):c.14861C>G (p.Ala4954Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1773663,1773663,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237832604:c:g|snv,True,False +1:237377364:C:G,RYR2,VCV001745086,1745086,NM_001035.3(RYR2):c.505C>G (p.Arg169Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1745086,1745086,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237377364:c:g|snv,True,False +1:237723201:A:ATCCAGAGAAGACGGTAGAAAGAG,RYR2,VCV001710227,1710227,NM_001035.3(RYR2):c.10630_10652dup (p.Val3551_Leu3552insGlnArgArgArgTer),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1710227,1710227,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237723201:a:atccagagaagacggtagaaagag|duplication,True,False +1:237798100:A:G,RYR2,VCV001693182,1693182,NM_001035.3(RYR2):c.14020A>G (p.Lys4674Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1693182,1693182,Arrhythmogenic right ventricular cardiomyopathy,Arrhythmogenic right ventricular cardiomyopathy,Arrhythmogenic right ventricular cardiomyopathy,variation_id,,,,locus_or_regional_context,0.25,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,1:237798100:a:g|snv,True,False +1:237830611:C:T,RYR2,VCV001527876,1527876,NM_001035.3(RYR2):c.14737C>T (p.His4913Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1527876,1527876,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237830611:c:t|snv,True,False +1:237634949:A:T,RYR2,VCV001527868,1527868,NM_001035.3(RYR2):c.6749A>T (p.Asn2250Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1527868,1527868,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237634949:a:t|snv,True,False +1:237445402:C:A,RYR2,VCV001524904,1524904,NM_001035.3(RYR2):c.1172C>A (p.Ala391Asp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1524904,1524904,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237445402:c:a|snv,True,False +1:237633669:A:G,RYR2,VCV001499030,1499030,NM_001035.3(RYR2):c.6647A>G (p.Asp2216Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1499030,1499030,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237633669:a:g|snv,True,False +1:237757772:A:G,RYR2,VCV001496297,1496297,NM_001035.3(RYR2):c.11321A>G (p.Gln3774Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1496297,1496297,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237757772:a:g|snv,True,False +1:237806211:C:A,RYR2,VCV001480185,1480185,NM_001035.3(RYR2):c.14226C>A (p.His4742Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1480185,1480185,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237806211:c:a|snv,True,False +1:237830584:G:A,RYR2,VCV001479669,1479669,NM_001035.3(RYR2):c.14710G>A (p.Gly4904Ser),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1479669,1479669,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237830584:g:a|snv,True,False +1:237781643:G:C,RYR2,VCV001474443,1474443,NM_001035.3(RYR2):c.11959G>C (p.Glu3987Gln),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1474443,1474443,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237781643:g:c|snv,True,False +1:237784315:G:T,RYR2,VCV001472640,1472640,NM_001035.3(RYR2):c.12603G>T (p.Gln4201His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1472640,1472640,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237784315:g:t|snv,True,False +1:237806237:A:T,RYR2,VCV001467901,1467901,NM_001035.3(RYR2):c.14252A>T (p.Lys4751Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1467901,1467901,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237806237:a:t|snv,True,False +1:237640994:G:A,RYR2,VCV001451617,1451617,NM_001035.3(RYR2):c.7213G>A (p.Glu2405Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1451617,1451617,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237640994:g:a|snv,True,False +1:237793882:T:C,RYR2,VCV001441921,1441921,NM_001035.3(RYR2):c.13798T>C (p.Phe4600Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1441921,1441921,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237793882:t:c|snv,True,False +1:237784158:A:G,RYR2,VCV001441891,1441891,NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1441891,1441891,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237784158:a:g|snv,True,False +1:237784176:C:A,RYR2,VCV001410932,1410932,NM_001035.3(RYR2):c.12464C>A (p.Ser4155Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1410932,1410932,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237784176:c:a|snv,True,False +1:237638464:C:G,RYR2,VCV001384586,1384586,NM_001035.3(RYR2):c.6900C>G (p.Asp2300Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1384586,1384586,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237638464:c:g|snv,True,False +1:237649944:T:G,RYR2,VCV001383749,1383749,NM_001035.3(RYR2):c.7580T>G (p.Leu2527Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1383749,1383749,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237649944:t:g|snv,True,False +1:237793920:T:G,RYR2,VCV001363823,1363823,NM_001035.3(RYR2):c.13836T>G (p.Phe4612Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1363823,1363823,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237793920:t:g|snv,True,False +1:237760996:A:G,RYR2,VCV001346560,1346560,NM_001035.3(RYR2):c.11444A>G (p.Glu3815Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1346560,1346560,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237760996:a:g|snv,True,False +1:237441339:GAGAAA:G,RYR2,VCV001342890,1342890,NM_001035.3(RYR2):c.1031_1035del (p.Lys344fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1342890,1342890,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237441339:gagaaa:g|deletion,True,False +1:237469125:C:T,RYR2,VCV001330215,1330215,NM_001035.3(RYR2):c.1646C>T (p.Ala549Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1330215,1330215,Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia 1,Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia 1,Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia|cardiomyopathy_overlap,assertion_condition_label,3,1.584962500721156,CPVT,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237469125:c:t|snv,True,False +1:237772037:G:C,RYR2,VCV001213111,1213111,NM_001035.3(RYR2):c.11583G>C (p.Gln3861His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1213111,1213111,,,,unmatched,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237772037:g:c|snv,True,False +1:237784299:C:T,RYR2,VCV001119951,1119951,NM_001035.3(RYR2):c.12587C>T (p.Thr4196Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1119951,1119951,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237784299:c:t|snv,True,False +1:237783695:A:C,RYR2,VCV001119950,1119950,NM_001035.3(RYR2):c.11983A>C (p.Ile3995Leu),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1119950,1119950,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,1:237783695:a:c|snv,True,False +1:237377373:G:A,RYR2,VCV001072928,1072928,NM_001035.3(RYR2):c.514G>A (p.Gly172Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1072928,1072928,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237377373:g:a|snv,True,False +1:237648522:G:A,RYR2,VCV001072597,1072597,NM_001035.3(RYR2):c.7421G>A (p.Arg2474Lys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1072597,1072597,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237648522:g:a|snv,True,False +1:237783981:C:T,RYR2,VCV001070571,1070571,NM_001035.3(RYR2):c.12269C>T (p.Pro4090Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1070571,1070571,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237783981:c:t|snv,True,False +1:237639019:G:C,RYR2,VCV001069130,1069130,NM_001035.3(RYR2):c.6933G>C (p.Glu2311Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1069130,1069130,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237639019:g:c|snv,True,False +1:237806159:A:G,RYR2,VCV001067931,1067931,NM_001035.3(RYR2):c.14174A>G (p.Tyr4725Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1067931,1067931,Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237806159:a:g|snv,True,False +1:237377396:T:A,RYR2,VCV001067138,1067138,NM_001035.3(RYR2):c.537T>A (p.Asp179Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1067138,1067138,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237377396:t:a|snv,True,False +1:237806219:A:G,RYR2,VCV001066599,1066599,NM_001035.3(RYR2):c.14234A>G (p.Asp4745Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1066599,1066599,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237806219:a:g|snv,True,False +1:237631490:C:A,RYR2,VCV001051501,1051501,NM_001035.3(RYR2):c.6504C>A (p.His2168Gln),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1051501,1051501,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237631490:c:a|snv,True,False +1:237828441:T:TTCC,RYR2,VCV001013805,1013805,NM_001035.3(RYR2):c.14651_14652insTCC (p.Met4884delinsIlePro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1013805,1013805,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237828441:t:ttcc|insertion,True,False +1:237784055:C:T,RYR2,VCV001007679,1007679,NM_001035.3(RYR2):c.12343C>T (p.Leu4115Phe),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1007679,1007679,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237784055:c:t|snv,True,False +1:237674163:A:AG,RYR2,VCV000982634,982634,NM_001035.3(RYR2):c.8659dup (p.Glu2887fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,982634,982634,Arrhythmogenic right ventricular dysplasia 2,Arrhythmogenic right ventricular dysplasia 2,Arrhythmogenic right ventricular dysplasia 2,variation_id,,,,locus_or_regional_context,0.25,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,1:237674163:a:ag|duplication,True,False +1:237445474:C:A,RYR2,VCV000979205,979205,NM_001035.3(RYR2):c.1244C>A (p.Thr415Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,979205,979205,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237445474:c:a|snv,True,False +1:237784211:G:A,RYR2,VCV000979204,979204,NM_001035.3(RYR2):c.12499G>A (p.Glu4167Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,979204,979204,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237784211:g:a|snv,True,False +1:237707216:T:A,RYR2,VCV000978366,978366,NM_001035.3(RYR2):c.9848T>A (p.Ile3283Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,978366,978366,Conduction disorder of the heart,Conduction disorder of the heart,Conduction disorder of the heart,variation_id,,,,locus_or_regional_context,0.25,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,1:237707216:t:a|snv,True,False +1:237633671:C:T,RYR2,VCV000957942,957942,NM_001035.3(RYR2):c.6649C>T (p.His2217Tyr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,957942,957942,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237633671:c:t|snv,True,False +1:237633708:T:C,RYR2,VCV000954202,954202,NM_001035.3(RYR2):c.6686T>C (p.Leu2229Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,954202,954202,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237633708:t:c|snv,True,False +1:237492996:G:A,RYR2,VCV000947851,947851,NM_001035.3(RYR2):c.1870G>A (p.Ala624Thr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,947851,947851,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237492996:g:a|snv,True,False +1:237388087:G:A,RYR2,VCV000947702,947702,NM_001035.3(RYR2):c.677G>A (p.Gly226Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,947702,947702,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237388087:g:a|snv,True,False +1:237759848:T:C,RYR2,VCV000940323,940323,NM_001035.3(RYR2):c.11398T>C (p.Cys3800Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,940323,940323,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237759848:t:c|snv,True,False +1:237759824:AGCCTGGCCG:A,RYR2,VCV000933804,933804,NM_001035.3(RYR2):c.11380_11388del (p.Ala3794_Leu3796del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,933804,933804,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237759824:agcctggccg:a|deletion,True,False +1:237709543:G:GT,RYR2,VCV000931781,931781,NM_001035.3(RYR2):c.10209dup (p.Ile3404fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,931781,931781,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237709543:g:gt|duplication,True,False +1:237648558:ATCTTCTTGAGGT:A,RYR2,VCV000915531,915531,NM_001035.3(RYR2):c.7459_7470del (p.Leu2487_Val2490del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,915531,915531,Cardiomyopathy,Cardiomyopathy,Cardiomyopathy,variation_id,,,,locus_or_regional_context,0.25,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,1:237648558:atcttcttgaggt:a|deletion,True,False +1:237270563:G:GCAGAAGGATTTGGCAA,RYR2,VCV000870975,870975,NM_001035.3(RYR2):c.120_135dup (p.Leu46fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,870975,870975,,,,unmatched,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237270563:g:gcagaaggatttggcaa|duplication,True,False +1:237831526:G:T,RYR2,VCV000869428,869428,NM_001035.3(RYR2):c.14769G>T (p.Met4923Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,869428,869428,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237831526:g:t|snv,True,False +1:237648525:T:C,RYR2,VCV000861770,861770,NM_001035.3(RYR2):c.7424T>C (p.Val2475Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,861770,861770,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237648525:t:c|snv,True,False +1:237639068:C:G,RYR2,VCV000840374,840374,NM_001035.3(RYR2):c.6982C>G (p.Pro2328Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,840374,840374,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237639068:c:g|snv,True,False +1:237798158:CCTT:C,RYR2,VCV000692253,692253,NM_001035.3(RYR2):c.14079_14081del (p.Leu4694del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,692253,692253,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237798158:cctt:c|deletion,True,False +1:237784301:A:C,RYR2,VCV000665174,665174,NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,665174,665174,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237784301:a:c|snv,True,False +1:237784290:G:A,RYR2,VCV000656745,656745,NM_001035.3(RYR2):c.12578G>A (p.Cys4193Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,656745,656745,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237784290:g:a|snv,True,False +1:237423097:G:T,RYR2,VCV000654791,654791,NM_001035.3(RYR2):c.854G>T (p.Ser285Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,654791,654791,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237423097:g:t|snv,True,False +1:237778755:G:C,RYR2,VCV000654125,654125,NM_001035.3(RYR2):c.11865G>C (p.Gln3955His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,654125,654125,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237778755:g:c|snv,True,False +1:237830557:A:C,RYR2,VCV000651491,651491,NM_001035.3(RYR2):c.14683A>C (p.Asn4895His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,651491,651491,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237830557:a:c|snv,True,False +1:237643361:T:G,RYR2,VCV000649923,649923,NM_001035.3(RYR2):c.7256T>G (p.Ile2419Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,649923,649923,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237643361:t:g|snv,True,False +1:237778727:G:A,RYR2,VCV000644207,644207,NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,644207,644207,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237778727:g:a|snv,True,False +1:237778678:G:C,RYR2,VCV000637985,637985,NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,637985,637985,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237778678:g:c|snv,True,False +1:237784280:G:A,RYR2,VCV000580536,580536,NM_001035.3(RYR2):c.12568G>A (p.Val4190Met),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,580536,580536,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237784280:g:a|snv,True,False +1:237784189:G:T,RYR2,VCV000578246,578246,NM_001035.3(RYR2):c.12477G>T (p.Gln4159His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,578246,578246,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237784189:g:t|snv,True,False +1:237792319:T:C,RYR2,VCV000575682,575682,NM_001035.3(RYR2):c.13778T>C (p.Leu4593Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,575682,575682,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237792319:t:c|snv,True,False +1:237778753:C:G,RYR2,VCV000575059,575059,NM_001035.3(RYR2):c.11863C>G (p.Gln3955Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,575059,575059,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237778753:c:g|snv,True,False +1:237633668:G:C,RYR2,VCV000571532,571532,NM_001035.3(RYR2):c.6646G>C (p.Asp2216His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,571532,571532,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237633668:g:c|snv,True,False +1:237784251:G:T,RYR2,VCV000570194,570194,NM_001035.3(RYR2):c.12539G>T (p.Gly4180Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,570194,570194,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237784251:g:t|snv,True,False +1:237791480:G:C,RYR2,VCV000568135,568135,NM_001035.3(RYR2):c.13528G>C (p.Ala4510Pro),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,568135,568135,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237791480:g:c|snv,True,False +1:237819188:A:G,RYR2,VCV000566084,566084,NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,566084,566084,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237819188:a:g|snv,True,False +1:237784261:AGAG:A,RYR2,VCV000560709,560709,NM_001035.3(RYR2):c.12550_12552del (p.Glu4184del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,560709,560709,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237784261:agag:a|deletion,True,False +1:237628052:G:A,RYR2,VCV000532366,532366,NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,532366,532366,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237628052:g:a|snv,True,False +1:237819187:T:C,RYR2,VCV000532324,532324,NM_001035.3(RYR2):c.14585T>C (p.Ile4862Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,532324,532324,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237819187:t:c|snv,True,False +1:237441320:A:G,RYR2,VCV000520467,520467,NM_001035.3(RYR2):c.1007A>G (p.Glu336Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,520467,520467,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237441320:a:g|snv,True,False +1:237639110:G:A,RYR2,VCV000519356,519356,NM_001035.3(RYR2):c.7024G>A (p.Gly2342Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,519356,519356,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237639110:g:a|snv,True,False +1:237639095:G:C,RYR2,VCV000463624,463624,NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463624,463624,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237639095:g:c|snv,True,False +1:237377426:A:T,RYR2,VCV000463608,463608,NM_001035.3(RYR2):c.567A>T (p.Glu189Asp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463608,463608,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237377426:a:t|snv,True,False +1:237377374:G:A,RYR2,VCV000463605,463605,NM_001035.3(RYR2):c.515G>A (p.Gly172Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463605,463605,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237377374:g:a|snv,True,False +1:237819192:G:T,RYR2,VCV000463579,463579,NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463579,463579,Catecholaminergic polymorphic ventricular tachycardia 1|Squamous cell lung carcinoma,Catecholaminergic polymorphic ventricular tachycardia 1|Squamous cell lung carcinoma,Catecholaminergic polymorphic ventricular tachycardia 1|Squamous cell lung carcinoma,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237819192:g:t|snv,True,False +1:237806236:A:G,RYR2,VCV000463577,463577,NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463577,463577,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237806236:a:g|snv,True,False +1:237445428:G:A,RYR2,VCV000463549,463549,NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,463549,463549,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237445428:g:a|snv,True,False +1:237808943:T:C,RYR2,VCV000452065,452065,NM_001035.3(RYR2):c.14341T>C (p.Tyr4781His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,452065,452065,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237808943:t:c|snv,True,False +1:237639026:GAG:AAA,RYR2,VCV000450836,450836,NM_001035.3(RYR2):c.6940_6942delinsAAA (p.Glu2314Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,MNV_or_substitution,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,450836,450836,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237639026:gag:aaa|mnv_or_substitution,True,False +1:237832607:G:A,RYR2,VCV000449306,449306,NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,449306,449306,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237832607:g:a|snv,True,False +1:237783708:T:C,RYR2,VCV000427948,427948,NM_001035.3(RYR2):c.11996T>C (p.Met3999Thr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427948,427948,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237783708:t:c|snv,True,False +1:237377361:C:G,RYR2,VCV000427184,427184,NM_001035.3(RYR2):c.502C>G (p.Gln168Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427184,427184,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237377361:c:g|snv,True,False +1:237781598:A:G,RYR2,VCV000427164,427164,NM_001035.3(RYR2):c.11914A>G (p.Met3972Val),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,427164,427164,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237781598:a:g|snv,True,False +1:237828390:T:C,RYR2,VCV000423597,423597,NM_001035.3(RYR2):c.14600T>C (p.Ile4867Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,423597,423597,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237828390:t:c|snv,True,False +1:237784281:T:G,RYR2,VCV000420865,420865,NM_001035.3(RYR2):c.12569T>G (p.Val4190Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,420865,420865,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237784281:t:g|snv,True,False +1:237783714:A:G,RYR2,VCV000418465,418465,NM_001035.3(RYR2):c.12002A>G (p.Asp4001Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418465,418465,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237783714:a:g|snv,True,False +1:237638450:G:A,RYR2,VCV000404218,404218,NM_001035.3(RYR2):c.6886G>A (p.Glu2296Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,404218,404218,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237638450:g:a|snv,True,False +1:237756342:C:T,RYR2,VCV000404208,404208,NM_001035.3(RYR2):c.11200C>T (p.Arg3734Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,404208,404208,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:237756342:c:t|snv,True,False +1:237832592:A:G,RYR2,VCV000372588,372588,NM_001035.3(RYR2):c.14849A>G (p.Glu4950Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,372588,372588,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237832592:a:g|snv,True,False +1:237377365:G:T,RYR2,VCV000372582,372582,NM_001035.3(RYR2):c.506G>T (p.Arg169Leu),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.8035714285714286,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,372582,372582,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calcium_handling,True,False,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:237377365:g:t|snv,True,False +1:115702981:C:T,CASQ2,VCV004798117,4798117,NM_001232.4(CASQ2):c.954G>A (p.Trp318Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4798117,4798117,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115702981:c:t|snv,False,False +1:115740766:C:A,CASQ2,VCV004281696,4281696,NM_001232.4(CASQ2):c.382G>T (p.Glu128Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4281696,4281696,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115740766:c:a|snv,False,False +1:115732899:AC:A,CASQ2,VCV004219483,4219483,NM_001232.4(CASQ2):c.606+1del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4219483,4219483,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,1:115732899:ac:a|deletion,False,False +1:115705283:TCGTAG:T,CASQ2,VCV003722584,3722584,NM_001232.4(CASQ2):c.843_847del (p.Tyr282fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3722584,3722584,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115705283:tcgtag:t|deletion,False,False +1:115768370:C:A,CASQ2,VCV003722580,3722580,NM_001232.4(CASQ2):c.172G>T (p.Glu58Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3722580,3722580,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115768370:c:a|snv,False,False +1:115768496:AG:A,CASQ2,VCV003688556,3688556,NM_001232.4(CASQ2):c.45del (p.Ser16fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3688556,3688556,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115768496:ag:a|deletion,False,False +1:115738337:T:A,CASQ2,VCV003676998,3676998,NM_001232.4(CASQ2):c.421-2A>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3676998,3676998,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115738337:t:a|snv,False,False +1:115732915:TG:T,CASQ2,VCV003638681,3638681,NM_001232.4(CASQ2):c.591del (p.Thr198fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3638681,3638681,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115732915:tg:t|deletion,False,False +1:115732924:AT:A,CASQ2,VCV003623127,3623127,NM_001232.4(CASQ2):c.582del (p.Lys194fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3623127,3623127,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115732924:at:a|deletion,False,False +1:115768540:A:T,CASQ2,VCV003575736,3575736,NM_001232.4(CASQ2):c.2T>A (p.Met1Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3575736,3575736,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115768540:a:t|snv,False,False +1:115768531:GTT:G,CASQ2,VCV003575685,3575685,NM_001232.4(CASQ2):c.9_10del (p.Arg3fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3575685,3575685,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115768531:gtt:g|deletion,False,False +1:115732899:A:T,CASQ2,VCV003575384,3575384,NM_001232.4(CASQ2):c.606+2T>A,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3575384,3575384,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115732899:a:t|snv,False,False +1:115701253:ATCGTCATCACTGT:A,CASQ2,VCV003338342,3338342,NM_001232.4(CASQ2):c.1175_1187del (p.Asp392fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3338342,3338342,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115701253:atcgtcatcactgt:a|deletion,False,False +1:115732976:T:C,CASQ2,VCV003263466,3263466,NM_001232.4(CASQ2):c.533-2A>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3263466,3263466,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115732976:t:c|snv,False,False +1:115725509:CA:C,CASQ2,VCV002822271,2822271,NM_001232.4(CASQ2):c.781del (p.Trp261fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2822271,2822271,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115725509:ca:c|deletion,False,False +1:115768337:G:A,CASQ2,VCV002806492,2806492,NM_001232.4(CASQ2):c.205C>T (p.Gln69Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2806492,2806492,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115768337:g:a|snv,False,False +1:115725536:AG:A,CASQ2,VCV002770074,2770074,NM_001232.4(CASQ2):c.754del (p.Leu252fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2770074,2770074,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115725536:ag:a|deletion,False,False +1:115740732:AAG:A,CASQ2,VCV002744443,2744443,NM_001232.4(CASQ2):c.414_415del (p.Leu139fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2744443,2744443,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115740732:aag:a|deletion,False,False +1:115701359:C:T,CASQ2,VCV002717451,2717451,NM_001232.4(CASQ2):c.1082G>A (p.Trp361Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2717451,2717451,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115701359:c:t|snv,False,False +1:115768510:AT:A,CASQ2,VCV002704628,2704628,NM_001232.4(CASQ2):c.31del (p.Ile11fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2704628,2704628,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115768510:at:a|deletion,False,False +1:115744878:C:CTA,CASQ2,VCV002506578,2506578,NM_001232.4(CASQ2):c.268_269insTA (p.Gly90fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2506578,2506578,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115744878:c:cta|insertion,False,False +1:115727123:C:T,CASQ2,VCV002438853,2438853,NM_001232.4(CASQ2):c.607-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2438853,2438853,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115727123:c:t|snv,False,False +1:115744826:A:C,CASQ2,VCV002089290,2089290,NM_001232.4(CASQ2):c.319+2T>G,Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2089290,2089290,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115744826:a:c|snv,False,False +1:115744885:C:CT,CASQ2,VCV001793918,1793918,NM_001232.4(CASQ2):c.261dup (p.Ala88fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1793918,1793918,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype||Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115744885:c:ct|duplication,False,False +1:115744827:C:T,CASQ2,VCV001324014,1324014,NM_001232.4(CASQ2):c.319+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1324014,1324014,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,Catecholaminergic polymorphic ventricular tachycardia 2,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115744827:c:t|snv,False,False +1:115768540:A:G,CASQ2,VCV000452250,452250,NM_001232.4(CASQ2):c.2T>C (p.Met1Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5125,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,452250,452250,Wolff-Parkinson-White pattern|Catecholaminergic polymorphic ventricular tachycardia 1,Wolff-Parkinson-White pattern|Catecholaminergic polymorphic ventricular tachycardia 1,Wolff-Parkinson-White pattern|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,strong,0.85,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,1:115768540:a:g|snv,False,False +6:123548549:G:GT,TRDN,VCV004782180,4782180,NM_006073.4(TRDN):c.295dup (p.Thr99fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4782180,4782180,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,6:123548549:g:gt|duplication,False,False +6:123503717:A:G,TRDN,VCV004714700,4714700,NM_006073.4(TRDN):c.793+2T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4714700,4714700,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,6:123503717:a:g|snv,False,False +6:123516169:TA:T,TRDN,VCV004712099,4712099,NM_006073.4(TRDN):c.521del (p.Val174fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4712099,4712099,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,6:123516169:ta:t|deletion,False,False +6:123337646:T:A,TRDN,VCV004077705,4077705,NM_006073.4(TRDN):c.1393A>T (p.Lys465Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4077705,4077705,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,6:123337646:t:a|snv,False,False +6:123516208:T:A,TRDN,VCV003721374,3721374,NM_006073.4(TRDN):c.485-2A>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3721374,3721374,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,6:123516208:t:a|snv,False,False +6:123571134:T:C,TRDN,VCV003669900,3669900,NM_006073.4(TRDN):c.23-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3669900,3669900,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,6:123571134:t:c|snv,False,False +6:123548461:AG:A,TRDN,VCV003593000,3593000,NM_006073.4(TRDN):c.383del (p.Thr128fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3593000,3593000,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,6:123548461:ag:a|deletion,False,False +6:123503894:CTTCTG:C,TRDN,VCV002920531,2920531,NC_000006.12:g.123503896TCTGT[1],Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,2920531,2920531,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,unanchored,0.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,6:123503894:cttctg:c|deletion,False,False +6:123548510:TC:T,TRDN,VCV002818604,2818604,NM_006073.4(TRDN):c.334del (p.Asp112fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2818604,2818604,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,6:123548510:tc:t|deletion,False,False +6:123503902:C:T,TRDN,VCV002730579,2730579,NM_006073.4(TRDN):c.611-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,2730579,2730579,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,unanchored,0.0,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,6:123503902:c:t|snv,False,False +6:123548518:CA:C,TRDN,VCV002634568,2634568,NM_006073.4(TRDN):c.326del (p.Leu109fs),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2634568,2634568,TRDN-related disorder|Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,TRDN-related disorder|Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,TRDN-related disorder|Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,6:123548518:ca:c|deletion,False,False +6:123530539:G:A,TRDN,VCV002018973,2018973,NM_006073.4(TRDN):c.451C>T (p.Gln151Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2018973,2018973,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,6:123530539:g:a|snv,False,False +6:123636774:A:G,TRDN,VCV001798674,1798674,NM_006073.4(TRDN):c.2T>C (p.Met1Thr),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1798674,1798674,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,6:123636774:a:g|snv,False,False +6:123548553:C:TT,TRDN,VCV001797791,1797791,NM_006073.4(TRDN):c.292delinsAA (p.Glu98fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1797791,1797791,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,CPVT|SADS,gene_context_fallback,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,True,1.0,False,0.001,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,6:123548553:c:tt|insertion,False,False +6:123516157:TTC:T,TRDN,VCV001746830,1746830,NM_006073.4(TRDN):c.532_533del (p.Glu178fs),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1746830,1746830,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,6:123516157:ttc:t|deletion,False,False +6:123516183:C:A,TRDN,VCV001708485,1708485,NM_006073.4(TRDN):c.508G>T (p.Gly170Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1708485,1708485,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,Catecholaminergic polymorphic ventricular tachycardia 5,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,6:123516183:c:a|snv,False,False +6:123571063:AC:A,TRDN,VCV001458047,1458047,NM_006073.4(TRDN):c.91del (p.Val31fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1458047,1458047,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,6:123571063:ac:a|deletion,False,False +6:123570921:A:T,TRDN,VCV000463677,463677,NM_006073.4(TRDN):c.232+2T>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,463677,463677,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,6:123570921:a:t|snv,False,False +6:123570988:A:G,TRDN,VCV000408740,408740,NM_006073.4(TRDN):c.167T>C (p.Leu56Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,408740,408740,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5|Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,representation_repairable,0.45,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,6:123570988:a:g|snv,False,False +6:123503893:TC:T,TRDN,VCV000408737,408737,NM_006073.4(TRDN):c.618del (p.Ala208fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.390625,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,408737,408737,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 1,variation_id,,,,locus_or_regional_context,0.25,CPVT|arrhythmia,assertion_condition_label,2,1.0,CPVT,provocation_dependent,0.8,moderate,0.6,recessive,calcium_handling,True,False,False,0.5,False,0.001,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,6:123503893:tc:t|deletion,False,False +14:90404482:A:T,CALM1,VCV004787824,4787824,NM_006888.6(CALM1):c.389A>T (p.Asp130Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4787824,4787824,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,14:90404482:a:t|snv,False,False +14:90403953:C:G,CALM1,VCV004785412,4785412,NM_006888.6(CALM1):c.270C>G (p.Phe90Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4785412,4785412,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id,,,,representation_repairable,0.45,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,14:90403953:c:g|snv,False,False +14:90404491:G:T,CALM1,VCV003338336,3338336,NM_006888.6(CALM1):c.398G>T (p.Gly133Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3338336,3338336,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,14:90404491:g:t|snv,False,False +14:90404379:G:T,CALM1,VCV002100843,2100843,NM_006888.6(CALM1):c.286G>T (p.Asp96Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2100843,2100843,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,14:90404379:g:t|snv,False,False +14:90404488:A:G,CALM1,VCV001362982,1362982,NM_006888.6(CALM1):c.395A>G (p.Asp132Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1362982,1362982,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,14:90404488:a:g|snv,False,False +14:90404689:A:T,CALM1,VCV000974613,974613,NM_006888.6(CALM1):c.422A>T (p.Glu141Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,974613,974613,Long QT syndrome 14,Long QT syndrome 14,Long QT syndrome 14,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,14:90404689:a:t|snv,False,False +14:90404689:A:G,CALM1,VCV000974612,974612,NM_006888.6(CALM1):c.422A>G (p.Glu141Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,974612,974612,Long QT syndrome 14,Long QT syndrome 14,Long QT syndrome 14,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,14:90404689:a:g|snv,False,False +14:90404693:C:A,CALM1,VCV000961658,961658,NM_006888.6(CALM1):c.426C>A (p.Phe142Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,961658,961658,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id,,,,representation_repairable,0.45,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,14:90404693:c:a|snv,False,False +14:90404488:A:T,CALM1,VCV000948239,948239,NM_006888.6(CALM1):c.395A>T (p.Asp132Val),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,948239,948239,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,14:90404488:a:t|snv,False,False +14:90404487:G:A,CALM1,VCV000639902,639902,NM_006888.6(CALM1):c.394G>A (p.Asp132Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,639902,639902,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,14:90404487:g:a|snv,False,False +14:90404491:G:A,CALM1,VCV000542137,542137,NM_006888.6(CALM1):c.398G>A (p.Gly133Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,542137,542137,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,14:90404491:g:a|snv,False,False +14:90404691:T:C,CALM1,VCV000426161,426161,NM_006888.6(CALM1):c.424T>C (p.Phe142Leu),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,426161,426161,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4|Cardiovascular phenotype,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4|Cardiovascular phenotype,Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4|Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,CPVT|LQTS|arrhythmia,assertion_condition_label,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,14:90404691:t:c|snv,False,False +14:90404512:A:T,CALM1,VCV000418107,418107,NM_006888.6(CALM1):c.419A>T (p.Glu140Val),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,418107,418107,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,14:90404512:a:t|snv,False,False +14:90404406:G:A,CALM1,VCV000388500,388500,NM_006888.6(CALM1):c.313G>A (p.Glu105Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,388500,388500,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,14:90404406:g:a|snv,False,False +14:90401312:A:C,CALM1,VCV000384090,384090,NM_006888.6(CALM1):c.88A>C (p.Thr30Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,384090,384090,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,14:90401312:a:c|snv,False,False +2:47162303:A:G,CALM2,VCV002734184,2734184,NM_001743.6(CALM2):c.268T>C (p.Phe90Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2734184,2734184,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,2:47162303:a:g|snv,False,False +2:47161831:C:G,CALM2,VCV002500174,2500174,NM_001743.6(CALM2):c.313G>C (p.Glu105Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2500174,2500174,Long QT syndrome 15,Long QT syndrome 15,Long QT syndrome 15,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,2:47161831:c:g|snv,False,False +2:47161750:C:A,CALM2,VCV001456260,1456260,NM_001743.6(CALM2):c.394G>T (p.Asp132Tyr),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1456260,1456260,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,2:47161750:c:a|snv,False,False +2:47161756:C:T,CALM2,VCV001398892,1398892,NM_001743.6(CALM2):c.388G>A (p.Asp130Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1398892,1398892,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,2:47161756:c:t|snv,False,False +2:47161804:C:T,CALM2,VCV001327459,1327459,NM_001743.6(CALM2):c.340G>A (p.Gly114Arg),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1327459,1327459,SUDDEN INFANT DEATH SYNDROME,SUDDEN INFANT DEATH SYNDROME,SUDDEN INFANT DEATH SYNDROME,variation_id,,,,locus_or_regional_context,0.25,SADS,assertion_condition_label,1,-0.0,SADS,SADS_genotype_first,0.35,definitive,1.0,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,2:47161804:c:t|snv,False,False +2:47161747:C:T,CALM2,VCV001067140,1067140,NM_001743.6(CALM2):c.397G>A (p.Gly133Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1067140,1067140,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,2:47161747:c:t|snv,False,False +2:47161749:T:C,CALM2,VCV000955533,955533,NM_001743.6(CALM2):c.395A>G (p.Asp132Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,955533,955533,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,2:47161749:t:c|snv,False,False +2:47161755:T:C,CALM2,VCV000812710,812710,NM_001743.6(CALM2):c.389A>G (p.Asp130Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,812710,812710,Long QT syndrome 15|Long QT syndrome 1,Long QT syndrome 15|Long QT syndrome 1,Long QT syndrome 15|Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,2:47161755:t:c|snv,False,False +2:47161858:C:A,CALM2,VCV000641544,641544,NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,641544,641544,Long QT syndrome 1|Long QT syndrome 15,Long QT syndrome 1|Long QT syndrome 15,Long QT syndrome 1|Long QT syndrome 15,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,2:47161858:c:a|snv,False,False +2:47160792:A:C,CALM2,VCV000576319,576319,NM_001743.6(CALM2):c.434T>G (p.Met145Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,576319,576319,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,2:47160792:a:c|snv,False,False +2:47161730:G:C,CALM2,VCV000488476,488476,NM_001743.6(CALM2):c.414C>G (p.Asn138Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,488476,488476,Long QT syndrome 15,Long QT syndrome 15,Long QT syndrome 15,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,2:47161730:g:c|snv,False,False +2:47161744:C:T,CALM2,VCV000448971,448971,NM_001743.6(CALM2):c.400G>A (p.Asp134Asn),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,448971,448971,Long QT syndrome 15|Long QT syndrome 1,Long QT syndrome 15|Long QT syndrome 1,Long QT syndrome 15|Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,2:47161744:c:t|snv,False,False +19:46609129:T:G,CALM3,VCV002138308,2138308,NM_005184.4(CALM3):c.426T>G (p.Phe142Leu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2138308,2138308,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,19:46609129:t:g|snv,False,False +19:46608950:C:G,CALM3,VCV001358003,1358003,NM_005184.4(CALM3):c.390C>G (p.Asp130Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1358003,1358003,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,19:46608950:c:g|snv,False,False +19:46608981:G:A,CALM3,VCV000812678,812678,NM_005184.4(CALM3):c.421G>A (p.Glu141Lys),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,812678,812678,Long QT syndrome 16|Long QT syndrome 1,Long QT syndrome 16|Long QT syndrome 1,Long QT syndrome 16|Long QT syndrome 1,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,19:46608981:g:a|snv,False,False +19:46608949:A:G,CALM3,VCV000812676,812676,NM_005184.4(CALM3):c.389A>G (p.Asp130Gly),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,812676,812676,Long QT syndrome 16,Long QT syndrome 16,Long QT syndrome 16,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,19:46608949:a:g|snv,False,False +19:46609125:A:G,CALM3,VCV000458198,458198,NM_005184.4(CALM3):c.422A>G (p.Glu141Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,458198,458198,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,19:46609125:a:g|snv,False,False +19:46608584:A:C,CALM3,VCV000409871,409871,NM_005184.4(CALM3):c.281A>C (p.Asp94Ala),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,409871,409871,Long QT syndrome 1,Long QT syndrome 1,Long QT syndrome 1,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,19:46608584:a:c|snv,False,False +19:46608846:G:C,CALM3,VCV000409870,409870,NM_005184.4(CALM3):c.286G>C (p.Asp96His),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,409870,409870,Long QT syndrome 1|Long QT syndrome 16,Long QT syndrome 1|Long QT syndrome 16,Long QT syndrome 1|Long QT syndrome 16,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,strong,0.85,dominant,calmodulinopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,19:46608846:g:c|snv,False,False +19:46608955:A:G,CALM3,VCV000389576,389576,NM_005184.4(CALM3):c.395A>G (p.Asp132Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,389576,389576,,,,unmatched,,,,locus_or_regional_context,0.25,CPVT|LQTS|SADS,gene_context_fallback,3,1.584962500721156,CPVT,provocation_dependent,0.8,strong,0.85,dominant,calmodulinopathy,True,True,True,1.0,False,2.5e-05,,False,False,True,True,True,True,False,False,False,disease_model_collision,disease_model_collision|sads_sensitive|unanchored_assertion_state,19:46608955:a:g|snv,False,False +4:113332071:G:A,ANK2,VCV004796659,4796659,NM_001148.6(ANK2):c.3224+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4796659,4796659,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113332071:g:a|snv,False,False +4:113343099:G:GT,ANK2,VCV004732021,4732021,NM_001148.6(ANK2):c.4212dup (p.Ala1405fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,4732021,4732021,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,unanchored,0.0,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113343099:g:gt|duplication,False,False +4:113359191:G:T,ANK2,VCV004725226,4725226,NM_001148.6(ANK2):c.10573G>T (p.Glu3525Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4725226,4725226,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113359191:g:t|snv,False,False +4:113357844:C:T,ANK2,VCV004721538,4721538,NM_001148.6(ANK2):c.9226C>T (p.Gln3076Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4721538,4721538,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113357844:c:t|snv,False,False +4:113333098:AG:A,ANK2,VCV004708265,4708265,NM_001148.6(ANK2):c.3271del (p.Glu1091fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4708265,4708265,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113333098:ag:a|deletion,False,False +4:113354062:CAG:C,ANK2,VCV004683080,4683080,NM_001148.6(ANK2):c.5450_5451del (p.Arg1817fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4683080,4683080,ANK2-associated seizure disorder,ANK2-associated seizure disorder,ANK2-associated seizure disorder,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113354062:cag:c|deletion,False,False +4:113357838:C:T,ANK2,VCV004613600,4613600,NM_001148.6(ANK2):c.9220C>T (p.Gln3074Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4613600,4613600,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113357838:c:t|snv,False,False +4:113357853:AC:A,ANK2,VCV004613598,4613598,NM_001148.6(ANK2):c.9239del (p.Pro3080fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4613598,4613598,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113357853:ac:a|deletion,False,False +4:113348282:G:T,ANK2,VCV004531921,4531921,NM_001148.6(ANK2):c.4378G>T (p.Glu1460Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531921,4531921,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113348282:g:t|snv,False,False +4:113346023:G:A,ANK2,VCV004293673,4293673,NM_001148.6(ANK2):c.4371+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4293673,4293673,ANK2-related disorder,ANK2-related disorder,ANK2-related disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113346023:g:a|snv,False,False +4:113356654:C:G,ANK2,VCV004292238,4292238,NM_001148.6(ANK2):c.8036C>G (p.Ser2679Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4292238,4292238,ANK-related Autism spectrum disorder and epilepsy,ANK-related Autism spectrum disorder and epilepsy,ANK-related Autism spectrum disorder and epilepsy,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113356654:c:g|snv,False,False +4:113358882:G:T,ANK2,VCV004097147,4097147,NM_001148.6(ANK2):c.10264G>T (p.Glu3422Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4097147,4097147,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113358882:g:t|snv,False,False +4:113357955:C:T,ANK2,VCV004097146,4097146,NM_001148.6(ANK2):c.9337C>T (p.Arg3113Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4097146,4097146,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113357955:c:t|snv,False,False +4:113287648:T:G,ANK2,VCV004088107,4088107,NM_001148.6(ANK2):c.2123T>G (p.Val708Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4088107,4088107,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113287648:t:g|snv,False,False +4:113355367:C:T,ANK2,VCV004075802,4075802,NM_001148.6(ANK2):c.6749C>T (p.Ser2250Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4075802,4075802,Brugada syndrome,Brugada syndrome,Brugada syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113355367:c:t|snv,False,False +4:113353201:AG:A,ANK2,VCV004075490,4075490,NM_001148.6(ANK2):c.4585del (p.Ala1529fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4075490,4075490,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113353201:ag:a|deletion,False,False +4:113360821:A:G,ANK2,VCV004071961,4071961,NM_001148.6(ANK2):c.10682-2A>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4071961,4071961,ANK2-associated disorder,ANK2-associated disorder,ANK2-associated disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113360821:a:g|snv,False,False +4:113346022:G:A,ANK2,VCV004071958,4071958,NM_001148.6(ANK2):c.4371G>A (p.Lys1457=),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4071958,4071958,ANK2-associated disorder,ANK2-associated disorder,ANK2-associated disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113346022:g:a|snv,False,False +4:113353828:T:A,ANK2,VCV004051668,4051668,NM_001148.6(ANK2):c.5210T>A (p.Leu1737Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4051668,4051668,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113353828:t:a|snv,False,False +4:113317810:G:A,ANK2,VCV003898990,3898990,NM_001148.6(ANK2):c.2796+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3898990,3898990,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113317810:g:a|snv,False,False +4:113353508:GAA:G,ANK2,VCV003897593,3897593,NM_001148.6(ANK2):c.4892_4893del (p.Lys1631fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3897593,3897593,"Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related",variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113353508:gaa:g|deletion,False,False +4:113335941:C:T,ANK2,VCV003772520,3772520,NM_001148.6(ANK2):c.3475C>T (p.Gln1159Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3772520,3772520,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113335941:c:t|snv,False,False +4:113357857:CT:C,ANK2,VCV003729667,3729667,NM_001148.6(ANK2):c.9240del (p.Asp3081fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3729667,3729667,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113357857:ct:c|deletion,False,False +4:113357939:AT:A,ANK2,VCV003654249,3654249,NM_001148.6(ANK2):c.9323del (p.Leu3108fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3654249,3654249,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113357939:at:a|deletion,False,False +4:113317795:AT:A,ANK2,VCV003632705,3632705,NM_001148.6(ANK2):c.2784del (p.Ser930fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3632705,3632705,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113317795:at:a|deletion,False,False +4:113353367:TGA:T,ANK2,VCV003540989,3540989,NM_001148.6(ANK2):c.4755_4756del (p.Gly1586fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,3540989,3540989,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,unanchored,0.0,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113353367:tga:t|deletion,False,False +4:113330274:C:T,ANK2,VCV003540979,3540979,NM_001148.6(ANK2):c.2929C>T (p.Arg977Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3540979,3540979,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113330274:c:t|snv,False,False +4:113335878:C:T,ANK2,VCV003390615,3390615,NM_001148.6(ANK2):c.3412C>T (p.Arg1138Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3390615,3390615,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113335878:c:t|snv,False,False +4:113049789:CAG:C,ANK2,VCV003383192,3383192,NM_001148.6(ANK2):c.64_65del (p.Arg22fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3383192,3383192,"Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related","Cardiac arrhythmia, ankyrin-B-related",variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113049789:cag:c|deletion,False,False +4:113358927:ATACT:A,ANK2,VCV003377103,3377103,NM_001148.6(ANK2):c.10313_10316del (p.Leu3438fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3377103,3377103,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113358927:atact:a|deletion,False,False +4:113358157:ACTTACT:TGGATGATGAG,ANK2,VCV003376714,3376714,NM_001148.6(ANK2):c.9539_9545delinsTGGATGATGAG (p.Asp3180fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3376714,3376714,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113358157:acttact:tggatgatgag|insertion,False,False +4:113354861:T:TG,ANK2,VCV003376713,3376713,NM_001148.6(ANK2):c.6245dup (p.Gly2083fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3376713,3376713,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113354861:t:tg|duplication,False,False +4:113354249:ACACT:A,ANK2,VCV003376711,3376711,NM_001148.6(ANK2):c.5635_5638del (p.Ser1879fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3376711,3376711,Neurodevelopmental disorder,Neurodevelopmental disorder,Neurodevelopmental disorder,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113354249:acact:a|deletion,False,False +4:113365182:G:A,ANK2,VCV003365181,3365181,NM_001148.6(ANK2):c.11032G>A (p.Gly3678Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3365181,3365181,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113365182:g:a|snv,False,False +4:113354341:GC:G,ANK2,VCV003344952,3344952,NM_001148.6(ANK2):c.5724del (p.Thr1910fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3344952,3344952,ANK2-related disorder,ANK2-related disorder,ANK2-related disorder,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113354341:gc:g|deletion,False,False +4:113343143:G:T,ANK2,VCV003340753,3340753,NM_001148.6(ANK2):c.4248+1G>T,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3340753,3340753,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113343143:g:t|snv,False,False +4:113360880:T:C,ANK2,VCV003338731,3338731,NM_001148.6(ANK2):c.10739T>C (p.Leu3580Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3338731,3338731,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113360880:t:c|snv,False,False +4:113302840:G:A,ANK2,VCV003337796,3337796,NM_001148.6(ANK2):c.2548+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3337796,3337796,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113302840:g:a|snv,False,False +4:113357732:TG:T,ANK2,VCV003119609,3119609,NM_001148.6(ANK2):c.9115del (p.Asp3039fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3119609,3119609,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113357732:tg:t|deletion,False,False +4:113363349:G:T,ANK2,VCV003068471,3068471,NM_001148.6(ANK2):c.10768G>T (p.Glu3590Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3068471,3068471,ANK2-associated Neurodevelopmental Disorder,ANK2-associated Neurodevelopmental Disorder,ANK2-associated Neurodevelopmental Disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113363349:g:t|snv,False,False +4:113354752:CAG:C,ANK2,VCV003030812,3030812,NM_001148.6(ANK2):c.6138_6139del (p.Asn2047fs),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3030812,3030812,ANK2-related disorder,ANK2-related disorder,ANK2-related disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113354752:cag:c|deletion,False,False +4:113357778:GC:G,ANK2,VCV002861152,2861152,NM_001148.6(ANK2):c.9162del (p.Phe3055fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2861152,2861152,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113357778:gc:g|deletion,False,False +4:113343096:TC:T,ANK2,VCV002672177,2672177,NM_001148.6(ANK2):c.4203del (p.Phe1401fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2672177,2672177,Complex neurodevelopmental disorder,Complex neurodevelopmental disorder,Complex neurodevelopmental disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113343096:tc:t|deletion,False,False +4:113332043:T:TG,ANK2,VCV002576797,2576797,NM_001148.6(ANK2):c.3201dup (p.Pro1068fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2576797,2576797,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113332043:t:tg|duplication,False,False +4:113330297:CAG:C,ANK2,VCV002575852,2575852,NM_001148.6(ANK2):c.2954_2955del (p.Arg985fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575852,2575852,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113330297:cag:c|deletion,False,False +4:113373350:GC:TT,ANK2,VCV002565317,2565317,NM_001148.6(ANK2):c.11760_11761delinsTT (p.Gln3921Ter),Pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,MNV_or_substitution,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.6400000000000001,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2565317,2565317,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,Cardiovascular phenotype|Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113373350:gc:tt|mnv_or_substitution,False,False +4:113292416:AACGGCTAC:A,ANK2,VCV002544521,2544521,NM_001148.6(ANK2):c.2282_2289del (p.Gly761fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2544521,2544521,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113292416:aacggctac:a|deletion,False,False +4:113255780:G:T,ANK2,VCV002506786,2506786,NM_001148.6(ANK2):c.1036G>T (p.Glu346Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2506786,2506786,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113255780:g:t|snv,False,False +4:113355370:CAAAGA:C,ANK2,VCV002499788,2499788,NM_001148.6(ANK2):c.6757_6761del (p.Lys2252_Lys2253insTer),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2499788,2499788,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113355370:caaaga:c|deletion,False,False +4:113357802:G:T,ANK2,VCV002430081,2430081,NM_001148.6(ANK2):c.9184G>T (p.Glu3062Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2430081,2430081,Autism spectrum disorder,Autism spectrum disorder,Autism spectrum disorder,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113357802:g:t|snv,False,False +4:113369632:C:T,ANK2,VCV002228433,2228433,NM_001148.6(ANK2):c.11437C>T (p.Gln3813Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2228433,2228433,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113369632:c:t|snv,False,False +4:113174449:AGAGCAGGCAACCTGGACAAAGTTGTGGAATATCTGAAGGGGGGCATAGACATCAATACCTGCAATCAGGTAAGAACATGGCAGCTAGCTCTGTGTTGTGCAACGAAGGAACACTCATTACATTCTCAGAGCCCAAGATTATTTTTGTCTTTATTAAAAATACTAAAATATCAGTGACTCAGACTTCTGAAATCCCATTTTTTGCCCCCTTACCAACTTTTCAAGTATCAGATGTTTGTATCTA:GAGCTAATGTTGCTGAAAAATTAGCTCC,ANK2,VCV002121821,2121821,NM_001148.6(ANK2):c.118_186+175delinsGAGCTAATGTTGCTGAAAAATTAGCTCC,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2121821,2121821,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113174449:agagcaggcaacctggacaaagttgtggaatatctgaaggggggcatagacatcaatacctgcaatcaggtaagaacatggcagctagctctgtgttgtgcaacgaaggaacactcattacattctcagagcccaagattatttttgtctttattaaaaatactaaaatatcagtgactcagacttctgaaatcccattttttgcccccttaccaacttttcaagtatcagatgtttgtatcta:gagctaatgttgctgaaaaattagctcc|deletion,False,False +4:113358433:AT:A,ANK2,VCV002029441,2029441,NM_001148.6(ANK2):c.9817del (p.Ser3273fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2029441,2029441,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113358433:at:a|deletion,False,False +4:113333109:C:CT,ANK2,VCV001729746,1729746,NM_001148.6(ANK2):c.3281dup (p.Val1095fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1729746,1729746,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113333109:c:ct|duplication,False,False +4:113242117:A:C,ANK2,VCV001695772,1695772,NM_001148.6(ANK2):c.799A>C (p.Ile267Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1695772,1695772,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113242117:a:c|snv,False,False +4:113117420:T:C,ANK2,VCV001678114,1678114,NM_001148.6(ANK2):c.85-56996T>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1678114,1678114,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113117420:t:c|snv,False,False +4:113311281:G:T,ANK2,VCV001678112,1678112,NM_001148.6(ANK2):c.2575G>T (p.Gly859Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1678112,1678112,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113311281:g:t|snv,False,False +4:113359094:G:GAC,ANK2,VCV001483377,1483377,NM_001148.6(ANK2):c.10480_10481dup (p.Gln3494fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1483377,1483377,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113359094:g:gac|duplication,False,False +4:113311368:C:T,ANK2,VCV001334346,1334346,NM_001148.6(ANK2):c.2662C>T (p.Arg888Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1334346,1334346,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113311368:c:t|snv,False,False +4:113353994:AGG:A,ANK2,VCV001317290,1317290,NM_001148.6(ANK2):c.5377_5378del (p.Gly1793fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1317290,1317290,,,,unmatched,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113353994:agg:a|deletion,False,False +4:113330364:C:T,ANK2,VCV000985758,985758,NM_001148.6(ANK2):c.3019C>T (p.Arg1007Ter),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,False,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,985758,985758,"Inborn genetic diseases|Cardiac arrhythmia, ankyrin-B-related","Inborn genetic diseases|Cardiac arrhythmia, ankyrin-B-related","Inborn genetic diseases|Cardiac arrhythmia, ankyrin-B-related",variation_id,,,,locus_or_regional_context,0.25,arrhythmia,assertion_condition_label,1,-0.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113330364:c:t|snv,False,False +4:113288387:G:A,ANK2,VCV000985336,985336,NM_001148.6(ANK2):c.2179-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,985336,985336,Inborn genetic diseases,Inborn genetic diseases,Inborn genetic diseases,variation_id,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113288387:g:a|snv,False,False +4:113358977:CA:C,ANK2,VCV000985206,985206,NM_001148.6(ANK2):c.10360del (p.Arg3454fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,985206,985206,Inborn genetic diseases,Inborn genetic diseases,Inborn genetic diseases,variation_id,,,,representation_repairable,0.45,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113358977:ca:c|deletion,False,False +4:113358096:G:T,ANK2,VCV000954568,954568,NM_001148.6(ANK2):c.9478G>T (p.Glu3160Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,954568,954568,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113358096:g:t|snv,False,False +4:113335953:CTGAT:C,ANK2,VCV000818077,818077,NM_001148.6(ANK2):c.3490_3493del (p.Ile1164fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.6136363636363636,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,818077,818077,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|arrhythmia,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,moderate,0.6,dominant,scaffolding,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,4:113335953:ctgat:c|deletion,False,False +17:70175686:A:G,KCNJ2,VCV004788797,4788797,NM_000891.3(KCNJ2):c.647A>G (p.Asn216Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4788797,4788797,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70175686:a:g|snv,False,False +17:70175387:CA:C,KCNJ2,VCV004784294,4784294,NM_000891.3(KCNJ2):c.351del (p.Glu118fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4784294,4784294,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70175387:ca:c|deletion,False,False +17:70175596:C:G,KCNJ2,VCV004783746,4783746,NM_000891.3(KCNJ2):c.557C>G (p.Pro186Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4783746,4783746,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70175596:c:g|snv,False,False +17:70176083:C:G,KCNJ2,VCV003755832,3755832,NM_000891.3(KCNJ2):c.1044C>G (p.Tyr348Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3755832,3755832,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,representation_repairable,0.45,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70176083:c:g|snv,False,False +17:70175308:T:G,KCNJ2,VCV003220886,3220886,NM_000891.3(KCNJ2):c.269T>G (p.Leu90Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3220886,3220886,Andersen Tawil syndrome,Andersen Tawil syndrome,Andersen Tawil syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70175308:t:g|snv,False,False +17:70175941:T:A,KCNJ2,VCV002682647,2682647,NM_000891.3(KCNJ2):c.902T>A (p.Met301Lys),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2682647,2682647,Short QT syndrome type 3,Short QT syndrome type 3,Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70175941:t:a|snv,False,False +17:70175271:G:A,KCNJ2,VCV002036326,2036326,NM_000891.3(KCNJ2):c.232G>A (p.Asp78Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2036326,2036326,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70175271:g:a|snv,False,False +17:70175263:C:A,KCNJ2,VCV002020840,2020840,NM_000891.3(KCNJ2):c.224C>A (p.Thr75Lys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2020840,2020840,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70175263:c:a|snv,False,False +17:70175464:C:T,KCNJ2,VCV001739158,1739158,NM_000891.3(KCNJ2):c.425C>T (p.Thr142Ile),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1739158,1739158,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70175464:c:t|snv,False,False +17:70175685:A:T,KCNJ2,VCV001496231,1496231,NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1496231,1496231,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70175685:a:t|snv,False,False +17:70175676:C:G,KCNJ2,VCV000995608,995608,NM_000891.3(KCNJ2):c.637C>G (p.Arg213Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,995608,995608,,,,unmatched,,,,representation_repairable,0.45,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70175676:c:g|snv,False,False +17:70175977:GCTCTTA:G,KCNJ2,VCV000981438,981438,NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,981438,981438,Andersen Tawil syndrome|Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome|Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome|Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,representation_repairable,0.45,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70175977:gctctta:g|deletion,False,False +17:70175756:AG:A,KCNJ2,VCV000960380,960380,NM_000891.3(KCNJ2):c.721del (p.Glu241fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,960380,960380,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70175756:ag:a|deletion,False,False +17:70170729:ACTTGTTAGCGTTTTCCTGCTCACTTCCAAATGTTTCATTTCTATTTGCCATTATCTGGAAAAATCCTGGTGCTCAGAAGGGGTAAGAGATGTTAATTGAAGCATGGTGGAAAGGGTGAGGATAAGGTCAAGGCCATTTTACTTAGCTTCCTCCTCTCTCATATTTTAATGACACTTTATTTTTTAATGTTCTTGGTCTCCATAAGAAATATTTGATCTAAACTCATGTGAATTTTGCTTTTAAAAAAAATAAAAGAACACAGTCTTTCTACATCCTTTGGATTCCTGAGTTGTAGAATCTCTGGTTAGCTGTAGCGTCCTTGTATGACTTTTGCGTAGCCTGAAAGATTGAAAACAGCTACCTGCACAGATTAAGTGTTTCAGATTTTTTTAAGTGTATATTTTTATTTACCAAACATGTCTGTTTTTCAGCGTATGCAAATGCTGAGCAGTGCTACAAGCCAAGTGTCGTTGAGTATAAATGTTAGACAGGGGGCTCACACGTAGATAGATGGGTATCCCCCTCCCCTCCCCACTTCCCCCTCCTCCTCCCTCATGTTTATTGAGCTTCTAAGAGGCTGCTTTCCTAGCAGTTGTGCTCACATAGCAACATGTGCCCAGAGCACACTCAGGCTGTTCTATATGGCGTCAGCTGGGGAATAGCTGCTCTAAACACTCATTAGCAGACCTCTCTCTCAGCCCAGTACGTTTTCTTTTGCTATCTTTATTTCCTATCCTTAGAAACTTTCTTATTTATTGCACACCATGACCATATTACAGGACACATTTACTCTCATTTGATTTTTTTTTTTAGTTATTTATAAGCCATATTGGAAGTATTACCTATATAGTCAAAGCAATTTAGATCCCCCATTTGTACCATGTGATCTCCTTGACCTTACATTTATCCATAGCTCTTTCTCCTTTAACATCTACCTAAGTTTAAAACGCTGAACTATTTTTTTCCATTGCTTATGCTTAATTTTGGCTCAGCCTATAAATAGTCTTAACATGAACAGCACCACATGTAACCTCTCAATTTCCCAAAAATACTTTCTACATCATGGGTTATGGCCTGGATAAAAATGATTATTTGTGTCCATGAAATTTACATCTAGACCCTTAAATATTTTGGCTGGAAGGGAGATTTACACATTGTTCATCAAATCAAATTTCAATTCTCTGGATTTGTATCACTTAGTGTTCTCATCTACTCCTCATTGATTGCATCTCAAACATTATTTTGAATATATGCTTGAAATAAAGTTGCATGTAAGCCCTGTTTTTTTAATGATAGCTTTTCTCAGCTGCTCACGAATTGGTAATTGCTAGTGAGAGGACCGGGCAAGGAAGTTTTCTGCTTGCTTAAAGTCGCTCAGGCATGTGGGCAGGTTAACAGTAAAAGCAATTTTTACCATGAAATATTAAGACCGTTACCCCATCAAACCTTGACAGGTTCTAGACTTTAGCTATGTAATCAGCTCCACAAAAAGTCTGCATACATATATGTGTGTGCACCTGCATACACACATAAATCTGTTTGGGGGCATATCTATTTAAAGTGGCAAAAGTTTTCTTTTTGCCAAAAAAAAAAAAAAAAAAAAAAAAAGCCCAAAACTCCTCTTTTTCTCTTTCCAGGAAGAAATGGTAAAATTTCTAAATGATGCTCCACATGTGGAACAAATTCTGTTATTAGCAATGGAAATAAGACAATAATAGTCTCTCAATACAGGCTACTTTCAAGATTCTAAATGTGGAAAGCTATTCATAGGAAGCTGGTATTGTGTGATTTGTGGAATTCAAACAAATGTCCTGGGGTCAAGATTTTTGGAAAGTCATAATTCAGTCTTTAGATTTCATATGGTTGTTATGTTTTAATCTGGAAGGAGTACAGAAATAAGTCAGAAGAAATTTGAGACTGTCTACTCATGGCCCCTAATGGTAACTCACATGGAAGGATTGTTTTGAATCATGAAAAGGGAATTTCTTGGTGTCAGCTTATAATACAAAGTTCTGAAGTCAATCAGAACTCAAAAATACAAAGCATTCATTGAATGAAGTTCTTCTCCTTTTTTTGAAACGTATACCTGCGTTTGGTGTTGTTGCTGTCTCTGTCTGTTTAGTAATGTGAGAAAACTAAGATGAAATAATTGCTTAAAAAATGCTGTCCATGTACAGGATCTAGAACTTCGAGGGGCAGGATTCTTGTTTCTTTGGTCCAAGTGCAAACTTCACAGGGAAGCAGACAAAACATTGAAGCAGGTGGAAGGTTAGGAAAGCACAGTAACTTCTTTTTATAAAGTAATTCAAAGGCACTTTCAAACTGAGCATCATTTAGGTGTCAAAAGCTGCCAAAATGTAACACACATTGCAATTTTCAAAGATGACTAATCTCAGGAAAAATGTGTTGGGGCACATTCTTGCATAATAACTTGGATAAAGAAGAAGTCAAAAGACAGTAACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCACTATTCTATTTGTAGGTGGGAATCTGACTTTCTTCCTCTAGCATTTCGTCAGCCTATCCGGTCTGCTCAGTTATATCATTTAAACAAAATAGTCTGTCTTCCGATTTCAACCTTGCCATCAGGGACTCTAATATTCTCCCGTAATGCACATGCAACTCAGTGGATATCAATGCTGCGTCCACGTGAAGTTTTCTAAACATGTCCTTTTTCCAAAAATTTTACGACAAACCTTGGAATCAGACAGTCTTTCATCTGCTTAACAGGGATCCTAGCAAGTGGGGCAGGCAGAAGAAGAGAATAAGAGAAGGGAGAGGTAGACCTGAACAATAGAATATTCTAGATCCCTGGCCAAAAAGAAGGGAAAGGGGACCTGACCTGACATTTTGGTTGAACAACTGTCACAGACAACTCTTCTATGTTTAACGACTTTATGCTTTTAAATAAAAGTTTTACAAAGCATGCTTAGGATACAAAGAAATTTAAAACCTTATAATTTAATGTAAATTATACTTATCTTTACCTGATTATGTGTTTTTGTTAGGATATATTGTCTTAGACAGTAGAATTCTTTAAGAGTGGCTTATTTTGTAATGCACAGTCTCTCTTTTCTTGCAGGACATGTTCTCTGGATGTCAGCTGAGTCATTAAAGTAACTCTGCATGTCAGTAGACAGACCTTGGTAGAACCACAAGGCTCCCAGAGACACCCATCTCTCCTCATTTTTTTGGTGTGTGTGTCTTCACCGAACATTCAAAACTGTTTCTCCAAAGCGTTTTGCAAAAACTCAGACTGTTTTCCAAAGCAGAAGCACTGGAGTCCCCAGCAGAAGCGATGGGCAGTGTGCGAACCAACCGCTACAGCATCGTCTCTTCAGAAGAAGACGGTATGAAGTTGGCCACCATGGCAGTTGCAAATGGCTTTGGGAACGGGAAGAGTAAAGTCCACACCCGACAACAGTGCAGGAGCCGCTTTGTGAAGAAAGATGGCCACTGTAATGTTCAGTTCATCAATGTGGGTGAGAAGGGGCAACGGTACCTCGCAGACATCTTCACCACGTGTGTGGACATTCGCTGGCGGTGGATGCTGGTTATCTTCTGCCTGGCTTTCGTCCTGTCATGGCTGTTTTTTGGCTGTGTGTTTTGGTTGATAGCTCTGCTCCATGGGGACCTGGATGCATCCAAAGAGGGCAAAGCTTGTGTGTCCGAGGTCAACAGCTTCACGGCTGCCTTCCTCTTCTCCATTGAGACCCAGAC:A,KCNJ2,VCV000946743,946743,NM_000891.3(KCNJ2):c.-217+1029_422del,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,946743,946743,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70170729:acttgttagcgttttcctgctcacttccaaatgtttcatttctatttgccattatctggaaaaatcctggtgctcagaaggggtaagagatgttaattgaagcatggtggaaagggtgaggataaggtcaaggccattttacttagcttcctcctctctcatattttaatgacactttattttttaatgttcttggtctccataagaaatatttgatctaaactcatgtgaattttgcttttaaaaaaaataaaagaacacagtctttctacatcctttggattcctgagttgtagaatctctggttagctgtagcgtccttgtatgacttttgcgtagcctgaaagattgaaaacagctacctgcacagattaagtgtttcagatttttttaagtgtatatttttatttaccaaacatgtctgtttttcagcgtatgcaaatgctgagcagtgctacaagccaagtgtcgttgagtataaatgttagacagggggctcacacgtagatagatgggtatccccctcccctccccacttccccctcctcctccctcatgtttattgagcttctaagaggctgctttcctagcagttgtgctcacatagcaacatgtgcccagagcacactcaggctgttctatatggcgtcagctggggaatagctgctctaaacactcattagcagacctctctctcagcccagtacgttttcttttgctatctttatttcctatccttagaaactttcttatttattgcacaccatgaccatattacaggacacatttactctcatttgatttttttttttagttatttataagccatattggaagtattacctatatagtcaaagcaatttagatcccccatttgtaccatgtgatctccttgaccttacatttatccatagctctttctcctttaacatctacctaagtttaaaacgctgaactatttttttccattgcttatgcttaattttggctcagcctataaatagtcttaacatgaacagcaccacatgtaacctctcaatttcccaaaaatactttctacatcatgggttatggcctggataaaaatgattatttgtgtccatgaaatttacatctagacccttaaatattttggctggaagggagatttacacattgttcatcaaatcaaatttcaattctctggatttgtatcacttagtgttctcatctactcctcattgattgcatctcaaacattattttgaatatatgcttgaaataaagttgcatgtaagccctgtttttttaatgatagcttttctcagctgctcacgaattggtaattgctagtgagaggaccgggcaaggaagttttctgcttgcttaaagtcgctcaggcatgtgggcaggttaacagtaaaagcaatttttaccatgaaatattaagaccgttaccccatcaaaccttgacaggttctagactttagctatgtaatcagctccacaaaaagtctgcatacatatatgtgtgtgcacctgcatacacacataaatctgtttgggggcatatctatttaaagtggcaaaagttttctttttgccaaaaaaaaaaaaaaaaaaaaaaaaagcccaaaactcctctttttctctttccaggaagaaatggtaaaatttctaaatgatgctccacatgtggaacaaattctgttattagcaatggaaataagacaataatagtctctcaatacaggctactttcaagattctaaatgtggaaagctattcataggaagctggtattgtgtgatttgtggaattcaaacaaatgtcctggggtcaagatttttggaaagtcataattcagtctttagatttcatatggttgttatgttttaatctggaaggagtacagaaataagtcagaagaaatttgagactgtctactcatggcccctaatggtaactcacatggaaggattgttttgaatcatgaaaagggaatttcttggtgtcagcttataatacaaagttctgaagtcaatcagaactcaaaaatacaaagcattcattgaatgaagttcttctcctttttttgaaacgtatacctgcgtttggtgttgttgctgtctctgtctgtttagtaatgtgagaaaactaagatgaaataattgcttaaaaaatgctgtccatgtacaggatctagaacttcgaggggcaggattcttgtttctttggtccaagtgcaaacttcacagggaagcagacaaaacattgaagcaggtggaaggttaggaaagcacagtaacttctttttataaagtaattcaaaggcactttcaaactgagcatcatttaggtgtcaaaagctgccaaaatgtaacacacattgcaattttcaaagatgactaatctcaggaaaaatgtgttggggcacattcttgcataataacttggataaagaagaagtcaaaagacagtaacaaggcattttcaaaggcaatgcaccttgcctcttcttaagggaatgcacaaaaacaacataaatggattgctttatttgtttgcggctggcttggctgatatcggttctattaactgtttaatcttaatggatttagaggagaaggaaaaagtggagtcttcattatcaggcatcaacaaatttctgactcttttcatgagttattcattgcccccctttaatatagcagaaggatttggttgtatgaaaagttgaagatgggctttatttttcagttctaactcttattagttttgttattacacatttggtaaagaaaacaccttagactttctcttagctttttgttagttagtcaagggaaatagtttcttaggagtgaagatggaaagttgaagtacatagatagttcttagctagggaagactgaggcaataggagaaaactgagaactactatttgcacatattaagtaaaggtgagtgccttctccataggaacctataccaaataacagcgctggaagtgaaagtaagcggactggcatttatgatctgtccttacacagttgtctctgtctgagagaacacagcactggactcacatgaaatgagttcctgccttatctcaatccgctaaagacctggtcctttggcacaacggtgcttacttcctagcctgtcattacacatgacagccccatctcaggagaatttcagggctcttattgctaggcaacagaattgctctctatcccccagagcaaacctgcatcttcagagtcttcaagccagaattacctgtactaatagagacttagcaggcatttctgcatagtggttgcttaaagtgtgagaagtgatgaagcaagcccaaacagtatccagaaactgggatccatttcagattattataagcaataggggcagtattcaccatcgtaggaggttttgtccactagttccctctattttcaggatacacactcagtcaagcctactccaaaatccacttcactattctatttgtaggtgggaatctgactttcttcctctagcatttcgtcagcctatccggtctgctcagttatatcatttaaacaaaatagtctgtcttccgatttcaaccttgccatcagggactctaatattctcccgtaatgcacatgcaactcagtggatatcaatgctgcgtccacgtgaagttttctaaacatgtcctttttccaaaaattttacgacaaaccttggaatcagacagtctttcatctgcttaacagggatcctagcaagtggggcaggcagaagaagagaataagagaagggagaggtagacctgaacaatagaatattctagatccctggccaaaaagaagggaaaggggacctgacctgacattttggttgaacaactgtcacagacaactcttctatgtttaacgactttatgcttttaaataaaagttttacaaagcatgcttaggatacaaagaaatttaaaaccttataatttaatgtaaattatacttatctttacctgattatgtgtttttgttaggatatattgtcttagacagtagaattctttaagagtggcttattttgtaatgcacagtctctcttttcttgcaggacatgttctctggatgtcagctgagtcattaaagtaactctgcatgtcagtagacagaccttggtagaaccacaaggctcccagagacacccatctctcctcatttttttggtgtgtgtgtcttcaccgaacattcaaaactgtttctccaaagcgttttgcaaaaactcagactgttttccaaagcagaagcactggagtccccagcagaagcgatgggcagtgtgcgaaccaaccgctacagcatcgtctcttcagaagaagacggtatgaagttggccaccatggcagttgcaaatggctttgggaacgggaagagtaaagtccacacccgacaacagtgcaggagccgctttgtgaagaaagatggccactgtaatgttcagttcatcaatgtgggtgagaaggggcaacggtacctcgcagacatcttcaccacgtgtgtggacattcgctggcggtggatgctggttatcttctgcctggctttcgtcctgtcatggctgttttttggctgtgtgttttggttgatagctctgctccatggggacctggatgcatccaaagagggcaaagcttgtgtgtccgaggtcaacagcttcacggctgccttcctcttctccattgagacccagac:a|deletion,False,False +17:70175473:A:G,KCNJ2,VCV000858285,858285,NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,858285,858285,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70175473:a:g|snv,False,False +17:70175563:T:TCATTGG,KCNJ2,VCV000801410,801410,NM_000891.3(KCNJ2):c.526_531dup (p.Ile176_Gly177dup),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,other_or_unresolved,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,801410,801410,,,,unmatched,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70175563:t:tcattgg|duplication,False,False +17:70175935:A:G,KCNJ2,VCV000689769,689769,NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,689769,689769,"Andersen Tawil syndrome;Short QT syndrome type 3;Atrial fibrillation, familial, 9","Andersen Tawil syndrome;Short QT syndrome type 3;Atrial fibrillation, familial, 9","Andersen Tawil syndrome;Short QT syndrome type 3;Atrial fibrillation, familial, 9",variation_id,,,,locus_or_regional_context,0.25,SQTS|arrhythmia,assertion_condition_label,2,1.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70175935:a:g|snv,False,False +17:70175596:C:A,KCNJ2,VCV000652820,652820,NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,652820,652820,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70175596:c:a|snv,False,False +17:70176139:TC:T,KCNJ2,VCV000569363,569363,NM_000891.3(KCNJ2):c.1102del (p.Leu368fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,569363,569363,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70176139:tc:t|deletion,False,False +17:70175704:T:C,KCNJ2,VCV000546134,546134,NM_000891.3(KCNJ2):c.665T>C (p.Leu222Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,546134,546134,Andersen Tawil syndrome,Andersen Tawil syndrome,Andersen Tawil syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70175704:t:c|snv,False,False +17:70175194:G:T,KCNJ2,VCV000523694,523694,NM_000891.3(KCNJ2):c.155G>T (p.Gly52Val),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,523694,523694,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,LQTS|periodic_paralysis,gene_context_fallback,2,1.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70175194:g:t|snv,False,False +17:70175692:G:C,KCNJ2,VCV000430545,430545,NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,430545,430545,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,Short QT syndrome type 3;Andersen Tawil syndrome,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70175692:g:c|snv,False,False +17:70175604:A:G,KCNJ2,VCV000429589,429589,NM_000891.3(KCNJ2):c.565A>G (p.Arg189Gly),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,429589,429589,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,Andersen Tawil syndrome;Short QT syndrome type 3,variation_id,,,,locus_or_regional_context,0.25,SQTS,assertion_condition_label,1,-0.0,SQTS,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,17:70175604:a:g|snv,False,False +15:73323225:CTCCGGGAGTCCCAGGCCTCCCCGGGCCCCGGGTGGCGCGGGAGATGGCTGGGCAGCCTGCGGGGAGCGGGCGCCTGGCTGCAGCGGGGTGAGCAGGGGAGAGTCGGAGGAGGACAGGGAGCCACCCAGCGCCTTGTGGAAGTGGCCAAACCCGGCTATGGTGGTGGCGGCTACGCCAGCTGATGGTGTGGGAGCCGAGGGGGAGCCACAGGCCCCGGGGGGTGGGGAGGAGCTGGATGAGGGCAGGAGTGGGCTCAGTCCAGCGGGGGCAGAGAATCCAGCCAGCTGTTGGATGTGGAAGGAGGATGAAGACGGTGTGTCCACCTGGGACGGGCTGCTGGCGGGCGAGGCGGAGCCCAGCGCAGAAGGGATCAGGGACTGCAGCCGTTTCAGGTGCCTTGGCGTCTGCCCGGCACCGAGGTTGCCCAGCCCAGATCCTGGGGGAGGGCGGAAGATGGCAGCAGGCAGGCGAGGGTGGTGGGTGAGGGCTATGGCCACAGAAGTGGTGGCAGCGGCAGCCTGCAGTGGTGCCTGGATCAGCGGGGTCCAGATGACGGGCGTGGGGGTTGGGGTGGCAGAGGCAGCAGCCTGGACGCGGTGCGCGCAGTGGGCCATCTCCCGGTCATGCTGCACAATCTGCTGGATGATCTCATTCTCCTGGTAGTTGAAGACGCCGGAGTTGAGGTCGTGCTGGACTTTGTGGAGGAGGATGGAGTTCTTCTTGCCTGGGCCACAGAACAAGAACAGGCACTCAGGGCAGAGCGGGGAAGGAGATCAGGTGCAGACCTGGCTTAGGCATAAAGGAGCCCTGCCCTCCTCCCCCAACACCCCCCACCTGCCCCGCCTGTGGCCCCTCCCCCTCACCAATGCGGTCCAGGCGGTCCAGCGCCACGGTCTCGAAGGCCCTTCGCATCATGGGGTACTCCTCCAGCACCTCATTGAAGTTGTCCACGCTCAGCGAGTAGAGGCGGCAGTAGGTGTCGGCCCTCACGCTGGCTGTGCGCCGGCCCCGGGTCAGCAGGCAGATCTCTGCCAGAGCATCAGGACTCAGGATGAGGCATGCACAGCCTGCCCAGGCCAGGGGGACTGCCCACCCTGACCTTGGCCCTGACTGCCTGGCACAGAAGCCTTGGCAGGCTCACAAGGCCCTGCCCCCAGACTGCGGCCACACTGGATGCCTCTTCCCCACCAAATGGGGGCTGGACAGACTTTCCCATCTTTGGGACATACCCTCTGCTCTGGACTGAATGTGTTCCCCCAAAATTTATATGTTGAACCCCTAATCCCAGCATGATGGTATTTGGAGGTGGGGCCTAGGGAGGTGATTAGATCACGAGGGTGGAGCCCTCGTGGATGGAATTAGTGCCTTTTTAGGAGGAGGCCGGGGAGCTGGCTCATCCTCCTTCTGCCACATGAGGACACAGCGAGAAGTCAGCAGTGCAGCCCAGAAGAGGGCCCTCACCAGCCCCAACCATGCTGGCCCCCTCAGCTCAGATGGCCAGCCTCCAGAACCATGACACATACATTTCTGCAGTTTACAAGCCACCCAGTCTGCGGCACTTTTGTTACAAGAACCCAGACTGACTAAGACACCCCTACCCTGGGCTCACAGACACCTCCCTCCAGGCTGTGGCCAAGAAGGGTGCTCACTGCCTCTGTCCCCTCGGTATCTCCCCAAACCAGCCCCTGGGAGCAGCTGCCCTGTCCCCCAGGGCCCAGGGCTGCCTCACCTCCAAAGTAGGAGCCGTCGGCCAGCTTGGTCTCCTTGTTGCCCTTGGTGAGCACGCTGACCACGCCATGCTGGATGAAGTACATCTTCTTGCCAATGGTGCCTTCCCGGATGATGTAGTCCCCAGGCTGGAAGACCTCGAAACGCAGCTTGGTCAGCATGGACGTCACGAAGTTGGGGTCCGCATTGGCAAACAGTGGCATGGAGGCCACCAGCTTCCGACAGTTAAAGTTGATGATCTCCTGCCGGACAGGGTGGATTGGGACACGGGAAGGAGGTGGTGAGGGGAGCTGGCTGCCAGGAAGGCCTGGCTCCCCTCCACGCCGGGCCGCCACACAGCTCACCTCCCGCAGGGGCTCGCTTAGCTCGCCCAGGATGCTCTCCTCGTCGAACATCTTGCCCTGGTAGCGGTGCTCGTAGTAGTCGTGGATGCGCTGCCGGGTGTCGGGCGGGAGCTTGTGAAAGGACATGTACTGCTCCACCTGCTTGTACTGAGGCCGGGAGAAGGGGGCGTCAGCTCCACCCCACCAGGGGGCGTCAGCAGCCAGCCCCACCACCTCGGCAGGCACCACATCCGGGCACCCACCCCGGGGGATTTCCTGGCTAAACTTGGTTCCTTGAGATCTGAGGTCTACAGTGTGGAAATGACCTCACTGTGCTCAAAACAACTGCCCGGGCTCCCAGCTGCTTGGCATGGAGGAGGGGCCCCCACCAGCATCTGCTCCTCGCTGTGTTCAATACTAAGGAGGTGGGTGAGGGCGGCAGGGAATGTCCAAAGCCCAGTGACAGGACATCAACTGTATCTCCAGGGAGGTCGATCACATTTCCTTGGAATGTTACACTGGGGACAGGGAGGCCTCACCGACTCTGCGGGGAAAGAAGCTGTTTCCTCCCAGCAGTGACAACTGGCACAGTCAGGAGGCAAGGGTGCGATGGATCAGAACGCTCAGAGGCAGAAGCAAGGATGCCTGGCTGCTCGATGCTATGAATCCAAACGTGGCCTCAGCTGAGACCCCGGGTCATTTCGTTGAGAGCAACTCCAGGTAAGGGAAAAGCAGGGTAGACTAATTTGAGGGGACCTTCAAATAGAGGCTCGGGTACAAAAGATTTGTGAGCCTCAGACCCTGGGGCTCAAACAAATAAGAAACGATCCTGCCCGCCCTCACTGAGAGGAGTGGACATTGCTCCCACCATCCTAGATTGTGGGTGGACAGTGGGATTCCCAAGAGCAGGATGAGGGATGGGAGGTATTGATTAGGCAACAACACAGACTCCTCCCGGATGGGAAGTAGAGGAAGTCCCTATCACCCCAGCAGCAATCAGAAACGGGGCAGCCTGTTTGCATCTATGTGTGCTCCAAAGAGGTGGGAACGCACAACTGCTGCACAGAAACACCCACGGGCAAATGAGGGCTGAGAAATGACATTTCCTAAACTTCTTCCAGCCACCCTGGCCTCTGACTGCTCCAAGTTATGCAAAGTCCCAGGGGACAGTGACTTCCTGGCTGGTTACAGAGATGGAGGCAGCTGGAAAACCTGGAGCTGTGTTTTAGAGAGTCCCTCCCCTGACCCCCAGAGAACAGGTAGGGGTAGGGAGGCAGGGTCTGGACATGGGGCAGGAGTTAAAAGGTTGAAGTGGTCCAGGTGAGAGACAGACGTGGGGATGGAGAGGAGGGAAGACATTTAAGAGAAATTTATTGGGCAGACTTAGATATTAGCCAAAGGACAAACATTTTAAAGTCTCAAATGAAAAGCCACAGACGCCTTGACTCTGGCCCTAAAATAAACTCTGATGCATTTTCTTTTCTTTTTTTCTTTTTATTTATTTATTTATTTATTTATTTTTTTTGTTAAGACAGGGTCTCGTTGTGTTGCCTAGACTGGAGTGCAGTGATATGAACACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCGATTCTCCCATCTCAGCCTCCTAAACAGCTGGCACTATAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTTGCCACGTTGCCCAGGCTGCTCTTGAACTCCTGGGCTCAAGAAATCAGCTCGCTTCAGCCTCTCAAAGTGCTGGGATTGCAGGCATGAGCCATCATGCCCAGCCTCCCAGACGCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGGGTGCAGTGGTGCAATCTTAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTGAGTAGCTGGGACTACAGGTGTGCACCACCACGCCCAGCTAATTTTTTTTTTACTTTTAGTAGGGATGAAGTT:C,HCN4,VCV004755562,4755562,NM_005477.3(HCN4):c.1591-1861_2867del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4755562,4755562,"Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant",variation_id,,,,representation_repairable,0.45,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,15:73323225:ctccgggagtcccaggcctccccgggccccgggtggcgcgggagatggctgggcagcctgcggggagcgggcgcctggctgcagcggggtgagcaggggagagtcggaggaggacagggagccacccagcgccttgtggaagtggccaaacccggctatggtggtggcggctacgccagctgatggtgtgggagccgagggggagccacaggccccggggggtggggaggagctggatgagggcaggagtgggctcagtccagcgggggcagagaatccagccagctgttggatgtggaaggaggatgaagacggtgtgtccacctgggacgggctgctggcgggcgaggcggagcccagcgcagaagggatcagggactgcagccgtttcaggtgccttggcgtctgcccggcaccgaggttgcccagcccagatcctgggggagggcggaagatggcagcaggcaggcgagggtggtgggtgagggctatggccacagaagtggtggcagcggcagcctgcagtggtgcctggatcagcggggtccagatgacgggcgtgggggttggggtggcagaggcagcagcctggacgcggtgcgcgcagtgggccatctcccggtcatgctgcacaatctgctggatgatctcattctcctggtagttgaagacgccggagttgaggtcgtgctggactttgtggaggaggatggagttcttcttgcctgggccacagaacaagaacaggcactcagggcagagcggggaaggagatcaggtgcagacctggcttaggcataaaggagccctgccctcctcccccaacaccccccacctgccccgcctgtggcccctccccctcaccaatgcggtccaggcggtccagcgccacggtctcgaaggcccttcgcatcatggggtactcctccagcacctcattgaagttgtccacgctcagcgagtagaggcggcagtaggtgtcggccctcacgctggctgtgcgccggccccgggtcagcaggcagatctctgccagagcatcaggactcaggatgaggcatgcacagcctgcccaggccagggggactgcccaccctgaccttggccctgactgcctggcacagaagccttggcaggctcacaaggccctgcccccagactgcggccacactggatgcctcttccccaccaaatgggggctggacagactttcccatctttgggacataccctctgctctggactgaatgtgttcccccaaaatttatatgttgaacccctaatcccagcatgatggtatttggaggtggggcctagggaggtgattagatcacgagggtggagccctcgtggatggaattagtgcctttttaggaggaggccggggagctggctcatcctccttctgccacatgaggacacagcgagaagtcagcagtgcagcccagaagagggccctcaccagccccaaccatgctggccccctcagctcagatggccagcctccagaaccatgacacatacatttctgcagtttacaagccacccagtctgcggcacttttgttacaagaacccagactgactaagacacccctaccctgggctcacagacacctccctccaggctgtggccaagaagggtgctcactgcctctgtcccctcggtatctccccaaaccagcccctgggagcagctgccctgtcccccagggcccagggctgcctcacctccaaagtaggagccgtcggccagcttggtctccttgttgcccttggtgagcacgctgaccacgccatgctggatgaagtacatcttcttgccaatggtgccttcccggatgatgtagtccccaggctggaagacctcgaaacgcagcttggtcagcatggacgtcacgaagttggggtccgcattggcaaacagtggcatggaggccaccagcttccgacagttaaagttgatgatctcctgccggacagggtggattgggacacgggaaggaggtggtgaggggagctggctgccaggaaggcctggctcccctccacgccgggccgccacacagctcacctcccgcaggggctcgcttagctcgcccaggatgctctcctcgtcgaacatcttgccctggtagcggtgctcgtagtagtcgtggatgcgctgccgggtgtcgggcgggagcttgtgaaaggacatgtactgctccacctgcttgtactgaggccgggagaagggggcgtcagctccaccccaccagggggcgtcagcagccagccccaccacctcggcaggcaccacatccgggcacccaccccgggggatttcctggctaaacttggttccttgagatctgaggtctacagtgtggaaatgacctcactgtgctcaaaacaactgcccgggctcccagctgcttggcatggaggaggggcccccaccagcatctgctcctcgctgtgttcaatactaaggaggtgggtgagggcggcagggaatgtccaaagcccagtgacaggacatcaactgtatctccagggaggtcgatcacatttccttggaatgttacactggggacagggaggcctcaccgactctgcggggaaagaagctgtttcctcccagcagtgacaactggcacagtcaggaggcaagggtgcgatggatcagaacgctcagaggcagaagcaaggatgcctggctgctcgatgctatgaatccaaacgtggcctcagctgagaccccgggtcatttcgttgagagcaactccaggtaagggaaaagcagggtagactaatttgaggggaccttcaaatagaggctcgggtacaaaagatttgtgagcctcagaccctggggctcaaacaaataagaaacgatcctgcccgccctcactgagaggagtggacattgctcccaccatcctagattgtgggtggacagtgggattcccaagagcaggatgagggatgggaggtattgattaggcaacaacacagactcctcccggatgggaagtagaggaagtccctatcaccccagcagcaatcagaaacggggcagcctgtttgcatctatgtgtgctccaaagaggtgggaacgcacaactgctgcacagaaacacccacgggcaaatgagggctgagaaatgacatttcctaaacttcttccagccaccctggcctctgactgctccaagttatgcaaagtcccaggggacagtgacttcctggctggttacagagatggaggcagctggaaaacctggagctgtgttttagagagtccctcccctgacccccagagaacaggtaggggtagggaggcagggtctggacatggggcaggagttaaaaggttgaagtggtccaggtgagagacagacgtggggatggagaggagggaagacatttaagagaaatttattgggcagacttagatattagccaaaggacaaacattttaaagtctcaaatgaaaagccacagacgccttgactctggccctaaaataaactctgatgcattttcttttctttttttctttttatttatttatttatttatttattttttttgttaagacagggtctcgttgtgttgcctagactggagtgcagtgatatgaacacagctcactgcagcctcaacctcctgggctcaagcgattctcccatctcagcctcctaaacagctggcactataggcacatgccaccacgcctggctaatttttgtatttttagtacagacagggttttgccacgttgcccaggctgctcttgaactcctgggctcaagaaatcagctcgcttcagcctctcaaagtgctgggattgcaggcatgagccatcatgcccagcctcccagacgctttttctttttcttttttttttttttttgagatggagtctccctctgttgcccaggctggggtgcagtggtgcaatcttagctcactgcaacctccgcctcctaggttcaagtgattctcctgcctcagcctccctgagtagctgggactacaggtgtgcaccaccacgcccagctaattttttttttacttttagtagggatgaagtt:c|deletion,False,False +15:73329730:C:T,HCN4,VCV002636206,2636206,NM_005477.3(HCN4):c.1433G>A (p.Cys478Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2636206,2636206,HCN4-related disorder,HCN4-related disorder,HCN4-related disorder,variation_id,,,,locus_or_regional_context,0.25,arrhythmia|bradyarrhythmia,gene_context_fallback,2,1.0,arrhythmia,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,15:73329730:c:t|snv,False,False +15:73323574:G:GCGGA,HCN4,VCV002028837,2028837,NM_005477.3(HCN4):c.2515_2518dup (p.Ala840fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2028837,2028837,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,15:73323574:g:gcgga|duplication,False,False +15:73325193:C:G,HCN4,VCV001697968,1697968,NM_005477.3(HCN4):c.1740G>C (p.Glu580Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1697968,1697968,Left ventricular noncompaction cardiomyopathy,Left ventricular noncompaction cardiomyopathy,Left ventricular noncompaction cardiomyopathy,variation_id,,,,representation_repairable,0.45,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,15:73325193:c:g|snv,False,False +15:73329718:C:T,HCN4,VCV001675065,1675065,NM_005477.3(HCN4):c.1445G>A (p.Gly482Glu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1675065,1675065,Left ventricular noncompaction cardiomyopathy,Left ventricular noncompaction cardiomyopathy,Left ventricular noncompaction cardiomyopathy,variation_id,,,,locus_or_regional_context,0.25,cardiomyopathy_overlap,assertion_condition_label,1,-0.0,cardiomyopathy_overlap,structural_electrical,0.7,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,15:73329718:c:t|snv,False,False +15:73343533:T:C,HCN4,VCV001359536,1359536,NM_005477.3(HCN4):c.1061A>G (p.Tyr354Cys),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1359536,1359536,Brugada syndrome 8|HCN4-related disorder,Brugada syndrome 8|HCN4-related disorder,Brugada syndrome 8|HCN4-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,15:73343533:t:c|snv,False,False +15:73329692:C:G,HCN4,VCV000666148,666148,NM_005477.3(HCN4):c.1471G>C (p.Asp491His),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,666148,666148,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,,,,representation_repairable,0.45,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,15:73329692:c:g|snv,False,False +15:73324088:C:T,HCN4,VCV000470654,470654,NM_005477.3(HCN4):c.2143+1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,470654,470654,Brugada syndrome 8,Brugada syndrome 8,Brugada syndrome 8,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,15:73324088:c:t|snv,False,False +15:73332261:G:C,HCN4,VCV000374861,374861,NM_005477.3(HCN4):c.1241C>G (p.Ala414Gly),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,374861,374861,"Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant",variation_id,,,,locus_or_regional_context,0.25,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,15:73332261:g:c|snv,False,False +15:73329722:A:G,HCN4,VCV000374860,374860,NM_005477.3(HCN4):c.1441T>C (p.Tyr481His),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,374860,374860,"Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8||Cardiovascular phenotype","Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8||Cardiovascular phenotype","Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8||Cardiovascular phenotype",variation_id,,,,locus_or_regional_context,0.25,Brugada|conduction,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,15:73329722:a:g|snv,False,False +15:73329719:C:G,HCN4,VCV000374859,374859,NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,exact_match,exact_match_without_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,exact_match_without_AF,374859,374859,"Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8","Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8","Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8",variation_id,,,,unanchored,0.0,Brugada|conduction,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,15:73329719:c:g|snv,False,False +15:73325000:T:TGGTGAGCACGCTG,HCN4,VCV000374858,374858,NM_005477.3(HCN4):c.1920_1932dup (p.Lys645fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,374858,374858,"Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant","Sick sinus syndrome 2, autosomal dominant",variation_id,,,,locus_or_regional_context,0.25,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,moderate,0.6,dominant,pacemaker_channel,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,15:73325000:t:tggtgagcacgctg|duplication,False,False +12:2653892:G:A,CACNA1C,VCV004689845,4689845,NM_000719.7(CACNA1C):c.4132G>A (p.Gly1378Arg),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4689845,4689845,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2653892:g:a|snv,True,False +12:2457652:GC:G,CACNA1C,VCV004613766,4613766,NM_000719.7(CACNA1C):c.704del (p.Ala235fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4613766,4613766,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2457652:gc:g|deletion,True,False +12:2582847:C:T,CACNA1C,VCV004536255,4536255,NM_000719.7(CACNA1C):c.2129C>T (p.Ser710Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4536255,4536255,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2582847:c:t|snv,True,False +12:2567737:C:G,CACNA1C,VCV004531394,4531394,NM_000719.7(CACNA1C):c.1838C>G (p.Pro613Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531394,4531394,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2567737:c:g|snv,True,False +12:2449015:G:C,CACNA1C,VCV004531392,4531392,NM_000719.7(CACNA1C):c.517G>C (p.Glu173Gln),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4531392,4531392,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2449015:g:c|snv,True,False +12:2666696:A:G,CACNA1C,VCV004530641,4530641,NM_000719.7(CACNA1C):c.4537A>G (p.Lys1513Glu),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4530641,4530641,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2666696:a:g|snv,True,False +12:2567600:C:G,CACNA1C,VCV004292479,4292479,NM_000719.7(CACNA1C):c.1701C>G (p.Phe567Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,4292479,4292479,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2567600:c:g|snv,True,False +12:2651688:C:T,CACNA1C,VCV004278773,4278773,NM_000719.7(CACNA1C):c.3994C>T (p.Arg1332Trp),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4278773,4278773,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2651688:c:t|snv,True,False +12:2597290:G:T,CACNA1C,VCV004086502,4086502,NM_000719.7(CACNA1C):c.2853+1G>T,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4086502,4086502,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2597290:g:t|snv,True,False +12:2486121:A:T,CACNA1C,VCV003897582,3897582,NM_000719.7(CACNA1C):c.775A>T (p.Asn259Tyr),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3897582,3897582,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2486121:a:t|snv,True,False +12:2593249:G:A,CACNA1C,VCV003894932,3894932,NM_000719.7(CACNA1C):c.2567G>A (p.Gly856Asp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3894932,3894932,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2593249:g:a|snv,True,False +12:2582943:G:C,CACNA1C,VCV003775665,3775665,NM_000719.7(CACNA1C):c.2224+1G>C,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3775665,3775665,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2582943:g:c|snv,True,False +12:2512930:G:C,CACNA1C,VCV003718454,3718454,NM_000719.7(CACNA1C):c.1336G>C (p.Asp446His),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3718454,3718454,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2512930:g:c|snv,True,False +12:2665673:TA:T,CACNA1C,VCV003600410,3600410,NM_000719.7(CACNA1C):c.4495del (p.Arg1499fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3600410,3600410,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2665673:ta:t|deletion,True,False +12:2605112:C:T,CACNA1C,VCV003573697,3573697,NM_000719.7(CACNA1C):c.2992C>T (p.Arg998Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3573697,3573697,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2605112:c:t|snv,True,False +12:2608531:ACT:A,CACNA1C,VCV003483968,3483968,NM_000719.7(CACNA1C):c.3379_3380del (p.Ser1127fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3483968,3483968,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2608531:act:a|deletion,True,False +12:2120345:TACTG:T,CACNA1C,VCV003483966,3483966,NM_000719.7(CACNA1C):c.396_399del (p.Thr133fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3483966,3483966,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2120345:tactg:t|deletion,True,False +12:2610590:TC:T,CACNA1C,VCV003393691,3393691,NM_000719.7(CACNA1C):c.3612del (p.Lys1205fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3393691,3393691,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2610590:tc:t|deletion,True,False +12:2486140:T:A,CACNA1C,VCV003392514,3392514,NM_000719.7(CACNA1C):c.794T>A (p.Met265Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3392514,3392514,"Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8","Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8","Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2486140:t:a|snv,True,False +12:2608641:G:A,CACNA1C,VCV003382973,3382973,NM_000719.7(CACNA1C):c.3487G>A (p.Gly1163Ser),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3382973,3382973,Timothy syndrome;Brugada syndrome 3;Long QT syndrome 8,Timothy syndrome;Brugada syndrome 3;Long QT syndrome 8,Timothy syndrome;Brugada syndrome 3;Long QT syndrome 8,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2608641:g:a|snv,True,False +12:2567731:T:C,CACNA1C,VCV003382740,3382740,NM_000719.7(CACNA1C):c.1832T>C (p.Met611Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3382740,3382740,"Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8","Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8","Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long QT syndrome 8",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,assertion_condition_label,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2567731:t:c|snv,True,False +12:2653855:CCTGAT:C,CACNA1C,VCV003377227,3377227,NM_000719.7(CACNA1C):c.4097_4101del (p.Leu1366fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3377227,3377227,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2653855:cctgat:c|deletion,True,False +12:2685745:C:A,CACNA1C,VCV003375805,3375805,NM_000719.7(CACNA1C):c.5583C>A (p.Tyr1861Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,3375805,3375805,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2685745:c:a|snv,True,False +12:2664838:G:A,CACNA1C,VCV003370332,3370332,NM_000719.7(CACNA1C):c.4246G>A (p.Glu1416Lys),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3370332,3370332,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2664838:g:a|snv,True,False +12:2448974:A:G,CACNA1C,VCV003252305,3252305,NM_000719.7(CACNA1C):c.478-2A>G,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3252305,3252305,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2448974:a:g|snv,True,False +12:2595960:T:G,CACNA1C,VCV003069192,3069192,NM_000719.7(CACNA1C):c.2750T>G (p.Leu917Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3069192,3069192,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2595960:t:g|snv,True,False +12:2486134:A:T,CACNA1C,VCV003066281,3066281,NM_000719.7(CACNA1C):c.788A>T (p.Lys263Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3066281,3066281,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2486134:a:t|snv,True,False +12:2457680:C:G,CACNA1C,VCV003027509,3027509,NM_000719.7(CACNA1C):c.731C>G (p.Pro244Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,3027509,3027509,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2457680:c:g|snv,True,False +12:2677138:C:T,CACNA1C,VCV002921274,2921274,NM_000719.7(CACNA1C):c.4873C>T (p.Gln1625Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2921274,2921274,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2677138:c:t|snv,True,False +12:2688546:C:T,CACNA1C,VCV002626971,2626971,NM_000719.7(CACNA1C):c.5884C>T (p.Arg1962Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2626971,2626971,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2688546:c:t|snv,True,False +12:2585498:T:G,CACNA1C,VCV002626927,2626927,NM_000719.7(CACNA1C):c.2460+2T>G,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2626927,2626927,CACNA1C-related disorder,CACNA1C-related disorder,CACNA1C-related disorder,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2585498:t:g|snv,True,False +12:2504884:G:GT,CACNA1C,VCV002584438,2584438,NM_000719.7(CACNA1C):c.1158dup (p.Thr387fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2584438,2584438,CACNA1C-related disorder,CACNA1C-related disorder,CACNA1C-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2504884:g:gt|duplication,True,False +12:2664824:G:A,CACNA1C,VCV002578446,2578446,NM_000719.7(CACNA1C):c.4233-1G>A,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2578446,2578446,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2664824:g:a|snv,True,False +12:2486109:C:T,CACNA1C,VCV002577479,2577479,NM_000719.7(CACNA1C):c.763C>T (p.Gln255Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2577479,2577479,Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2486109:c:t|snv,True,False +12:2653860:T:C,CACNA1C,VCV002575833,2575833,NM_000719.7(CACNA1C):c.4100T>C (p.Ile1367Thr),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2575833,2575833,Long QT syndrome,Long QT syndrome,Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2653860:t:c|snv,True,False +12:2120351:CTA:C,CACNA1C,VCV002506866,2506866,NM_000719.7(CACNA1C):c.400_401del (p.Ile134fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2506866,2506866,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2120351:cta:c|deletion,True,False +12:2486161:C:T,CACNA1C,VCV002504611,2504611,NM_000719.7(CACNA1C):c.815C>T (p.Ala272Val),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,2504611,2504611,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2486161:c:t|snv,True,False +12:2512827:G:C,CACNA1C,VCV002504609,2504609,NM_000719.7(CACNA1C):c.1233G>C (p.Glu411Asp),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2504609,2504609,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2512827:g:c|snv,True,False +12:2582832:G:A,CACNA1C,VCV002501348,2501348,NM_000719.7(CACNA1C):c.2114G>A (p.Gly705Glu),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2501348,2501348,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2582832:g:a|snv,True,False +12:2608677:CAGGA:C,CACNA1C,VCV002452672,2452672,NM_000719.7(CACNA1C):c.3524_3527del (p.Gln1175fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2452672,2452672,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2608677:cagga:c|deletion,True,False +12:2679753:GC:G,CACNA1C,VCV002251969,2251969,NM_000719.7(CACNA1C):c.5403del (p.Ile1802fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,2251969,2251969,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2679753:gc:g|deletion,True,False +12:2486116:T:C,CACNA1C,VCV001803055,1803055,NM_000719.7(CACNA1C):c.770T>C (p.Val257Ala),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1803055,1803055,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2486116:t:c|snv,True,False +12:2677772:C:T,CACNA1C,VCV001744618,1744618,NM_000719.7(CACNA1C):c.4996C>T (p.Arg1666Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1744618,1744618,Cardiovascular phenotype,Cardiovascular phenotype,Cardiovascular phenotype,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2677772:c:t|snv,True,False +12:2688554:G:GC,CACNA1C,VCV001712194,1712194,NM_000719.7(CACNA1C):c.5897dup (p.Gln1967fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1712194,1712194,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2688554:g:gc|duplication,True,False +12:2655228:C:G,CACNA1C,VCV001705745,1705745,NM_000719.7(CACNA1C):c.4222C>G (p.Leu1408Val),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1705745,1705745,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2655228:c:g|snv,True,False +12:2581663:C:T,CACNA1C,VCV001705744,1705744,NM_000719.7(CACNA1C):c.1969C>T (p.Leu657Phe),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1705744,1705744,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2581663:c:t|snv,True,False +12:2665599:G:C,CACNA1C,VCV001700075,1700075,NM_000719.7(CACNA1C):c.4417G>C (p.Ala1473Pro),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1700075,1700075,Neurodevelopmental delay|CACNA1C-related disorder,Neurodevelopmental delay|CACNA1C-related disorder,Neurodevelopmental delay|CACNA1C-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2665599:g:c|snv,True,False +12:2634334:T:G,CACNA1C,VCV001699326,1699326,NM_000719.7(CACNA1C):c.3866T>G (p.Leu1289Trp),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1699326,1699326,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2634334:t:g|snv,True,False +12:2504886:T:TA,CACNA1C,VCV001699036,1699036,NM_000719.7(CACNA1C):c.1159dup (p.Thr387fs),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1699036,1699036,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2504886:t:ta|duplication,True,False +12:2610588:C:G,CACNA1C,VCV001695801,1695801,NM_000719.7(CACNA1C):c.3606C>G (p.Tyr1202Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1695801,1695801,,,,unmatched,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2610588:c:g|snv,True,False +12:2567752:T:G,CACNA1C,VCV001685597,1685597,NM_000719.7(CACNA1C):c.1853T>G (p.Val618Gly),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1685597,1685597,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2567752:t:g|snv,True,False +12:2449093:G:A,CACNA1C,VCV001685596,1685596,NM_000719.7(CACNA1C):c.595G>A (p.Asp199Asn),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1685596,1685596,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2449093:g:a|snv,True,False +12:2504535:A:G,CACNA1C,VCV001344837,1344837,NM_001167623.2(CACNA1C):c.1213A>G (p.Ser405Gly),Likely pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1344837,1344837,Seizure,Seizure,Seizure,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2504535:a:g|snv,True,False +12:2448994:T:C,CACNA1C,VCV001325838,1325838,NM_000719.7(CACNA1C):c.496T>C (p.Phe166Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1325838,1325838,Neurodevelopmental delay,Neurodevelopmental delay,Neurodevelopmental delay,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2448994:t:c|snv,True,False +12:2677868:G:A,CACNA1C,VCV001313855,1313855,NM_000719.7(CACNA1C):c.5091+1G>A,Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1313855,1313855,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2677868:g:a|snv,True,False +12:2608654:T:C,CACNA1C,VCV001309258,1309258,NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala),Pathogenic/Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1309258,1309258,Timothy syndrome|Long QT syndrome,Timothy syndrome|Long QT syndrome,Timothy syndrome|Long QT syndrome,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2608654:t:c|snv,True,False +12:2608657:C:A,CACNA1C,VCV001303511,1303511,NM_000719.7(CACNA1C):c.3503C>A (p.Thr1168Asn),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1303511,1303511,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2608657:c:a|snv,True,False +12:2504529:G:A,CACNA1C,VCV001302971,1302971,NM_001167623.2(CACNA1C):c.1207G>A (p.Val403Met),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1302971,1302971,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2504529:g:a|snv,True,False +12:2605121:C:T,CACNA1C,VCV001302480,1302480,NM_000719.7(CACNA1C):c.3001C>T (p.Arg1001Ter),Pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1302480,1302480,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2605121:c:t|snv,True,False +12:2651679:C:T,CACNA1C,VCV001214422,1214422,NM_000719.7(CACNA1C):c.3985C>T (p.Arg1329Cys),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1214422,1214422,Hypotonia,Hypotonia,Hypotonia,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2651679:c:t|snv,True,False +12:2653847:G:T,CACNA1C,VCV001164022,1164022,NM_000719.7(CACNA1C):c.4087G>T (p.Val1363Leu),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1164022,1164022,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2653847:g:t|snv,True,False +12:2581667:T:C,CACNA1C,VCV000981247,981247,NM_000719.7(CACNA1C):c.1973T>C (p.Leu658Pro),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,981247,981247,Intellectual disability,Intellectual disability,Intellectual disability,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2581667:t:c|snv,True,False +12:2512849:G:C,CACNA1C,VCV000978295,978295,NM_000719.7(CACNA1C):c.1255G>C (p.Gly419Arg),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,978295,978295,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2512849:g:c|snv,True,False +12:2053592:TC:T,CACNA1C,VCV000978276,978276,NM_000719.7(CACNA1C):c.32del (p.Pro11fs),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,deletion,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,978276,978276,Conduction disorder of the heart,Conduction disorder of the heart,Conduction disorder of the heart,variation_id,,,,representation_repairable,0.45,conduction,assertion_condition_label,1,-0.0,conduction,intermittent,0.55,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2053592:tc:t|deletion,True,False +12:2457671:T:C,CACNA1C,VCV000973262,973262,NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,973262,973262,Timothy syndrome;Brugada syndrome 3,Timothy syndrome;Brugada syndrome 3,Timothy syndrome;Brugada syndrome 3,variation_id,,,,locus_or_regional_context,0.25,Brugada,assertion_condition_label,1,-0.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2457671:t:c|snv,True,False +12:2493386:G:A,CACNA1C,VCV000802809,802809,NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,802809,802809,Timothy syndrome,Timothy syndrome,Timothy syndrome,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2493386:g:a|snv,True,False +12:2665607:C:G,CACNA1C,VCV000633648,633648,NM_000719.7(CACNA1C):c.4425C>G (p.Ile1475Met),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,633648,633648,Long QT syndrome 8,Long QT syndrome 8,Long QT syndrome 8,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2665607:c:g|snv,True,False +12:2567644:C:A,CACNA1C,VCV000633647,633647,NM_000719.7(CACNA1C):c.1745C>A (p.Ala582Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,633647,633647,Long QT syndrome 8,Long QT syndrome 8,Long QT syndrome 8,variation_id,,,,representation_repairable,0.45,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2567644:c:a|snv,True,False +12:2653847:G:C,CACNA1C,VCV000522828,522828,NM_000719.7(CACNA1C):c.4087G>C (p.Val1363Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,522828,522828,CACNA1C-related disorder,CACNA1C-related disorder,CACNA1C-related disorder,variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2653847:g:c|snv,True,False +12:2566522:A:G,CACNA1C,VCV000521136,521136,NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,allele_discordance,allele_discordance_no_exact_AF,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,521136,521136,Timothy syndrome|Cardiovascular phenotype,Timothy syndrome|Cardiovascular phenotype,Timothy syndrome|Cardiovascular phenotype,variation_id,,,,representation_repairable,0.45,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2566522:a:g|snv,True,False +12:2605097:G:C,CACNA1C,VCV000450908,450908,NM_000719.7(CACNA1C):c.2977G>C (p.Val993Leu),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,450908,450908,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2605097:g:c|snv,True,False +12:2653847:G:A,CACNA1C,VCV000450063,450063,NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met),Likely pathogenic,"criteria provided, multiple submitters, no conflicts",multiple_submitters_no_conflicts,2,2.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,False,0.7307692307692307,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,450063,450063,"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures|CACNA1C-related disorder","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures|CACNA1C-related disorder","Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures|CACNA1C-related disorder",variation_id,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2653847:g:a|snv,True,False +12:2610700:G:GA,CACNA1C,VCV000432248,432248,NM_000719.7(CACNA1C):c.3717+1_3717+2insA,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,insertion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.7307692307692307,0.5866666666666666,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,432248,432248,,,,unmatched,,,,locus_or_regional_context,0.25,Brugada|LQTS,gene_context_fallback,2,1.0,Brugada,provocation_dependent,0.8,definitive,1.0,dominant,channelopathy,True,True,False,0.5,False,2.5e-05,,False,False,True,True,True,False,False,False,False,disease_model_collision,disease_model_collision|unanchored_assertion_state,12:2610700:g:ga|insertion,True,False +7:82167142:AAGAAATATTGCACAGATGCACATTGTTAAATACCTTAAAAGATAAAAGAATTATAAAGTTTAAAAGAAGGACCTTTTGAAAGATGATAAAATTTATCTTCAAATTAACCATTTTTAAATGTTTGGTTAAAATATTGAGAAAATTTACAATTGTTTTGTGTGCTTTCACAAAACAAGAGATTTAATGTTAATGATTTATAAGTTTCAACCACGAATTTGAACTGTATTCTGCTCTGGTCTTGAAGGATTTATTTAACCTTGCTGTATCTGTGCACTAAAGCACCACCTAGTTTATTAGGAACAAAAAAAAAGCTGAGAGGAATGTATTATTTTTGTACTTTTTACTTATTTGAGTCTTAAGATTAGATAGTCTTCATTGAGGTTCTATTCTCCAAGCACAAAAACGACCACTATCTAAACCTTCTATCACTCTATGGCATTTCAAAGGGAAGGGCTATCATAAAGACTATGTATGGCTGCCAAGGTTAGATATGGGAAATAGCAATTCTCAATGTGCAAACTGTGACAGACCTGTGTCCTGTCAACATCATTCACGGTCCTTCAGGAAGGATGCTCAGGAAATGAGTTGACAGGACTCTAAGTGGTCTAACTTGTTTTCCCTTTAACAGTCTCTTTTGATGTCAATCAGTATGTCAACAGGCCCTAAATAAATTGTGAGGTAACCAAGGGGGAAATTAGGAACAGAATTTCTTCAAGAATTCTCCCACATGGTGACCACCATTTGCTAAGAATTCCTAATACTTACTGGGCAAATAATTCATTTTCTATTTCACCATAGAAGATTTAGTAATGGCTTTTGTATTATTGTGGGACTGATTTGTCCTCTTGCACAATGTTTTTTTAGCAGTACTGCTACTTGGATAGAGGCACCAAAAAAGTAGAAAATAAGGGTTACATTTCAAGATAATTTTTTTCACTTTTTGACATCTCTAAGAATACAGCATACAATTGCTGATGCATCATAATTTAAGTGGCTTTTTTGGTGGGGGCTTGGGGGAGATGAGGTCTCTCTCTGTTGCCCAGGCTGGAGTAGTACAGTGTCATGATCTTGGCTCACTGCACCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTACCAAGTAGCTGGGATTACAGGCATGCACCACCACGCACAGCTAATTTTTGTATTTTTAGTGGAGATAGGGTTTCTCCATGTTGACAAGGCTGGTTTTGAACTTCTGGCCTAAAGTAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCATGCCCGGCCAAGTGGCTTTTTCTTAGAAATAACTAAAATAAATAGAATGACTAAGTGCCTTACAATTGATGATTTACATTCAATAAAATATGGTAATAGCAAACTTGAATTTAGAGTTTTTGTATTGTGTTTGTGTTGTGGTTACCCATTACCTCAATATAGAAAACAAAATAATTGCCAAATGTTAGTGTTAATGAGCCCAATATTAAAGAGTTCACAATGTCTAGGAAATGAAACCTTATGTCTAGAAATTAATAAATAATAGTTAAATGAAACAACAATGATATAGGCATTACTACAACCCTACTTGCCAAGTTATTTTTTTCCACATTATTGCTCTTTAGAAAAGTGAAAACAACATACAACTAATAAATGACTACTTAAAATACTACCAAATGAATTTAAGGCAAAGAAAAAGGGTGCTTTGAACAGGGAATGTATAATCTATATATTTCAGAGGCTGAGTTTGTGTGTCTGTTTTGAGTTCTCCGAATTACTGAAGATTCAAACTAAAACAGCACCAAGGGTATTATATCTATGCTAGGCAGAATACATGATCTAGCCATACATCTATTATGACTTTACACTGCTTTTACCATGCACGCTTTATGTTGTGGGACATAAGGGAAGAGTAATTTATATTTAATGTTGTTAATCAAACATATATTTAGCTAGATTTGTTTTGCTGCTTTTTCCCTATTTGCAAAAACAAAAAAAATCGTTTTTATCTAAAAGCAACTAAGTATATTGTAAGCCTCTTCATTCACTAGATGAGCTTACAGTTTGCTCGATGCTCTAGGAGCTTATGTTTTTAGCTTAATCATTGATTTTTTCCTTAATATATCATGGATAGCAAATTGATCTTTATTAACCTGTGTATGATAAAGGTTGTAGACAAAGCCAATACCTACATAATATTAATACCAATCAAGTTAAGTGATATGATCAGTTCAGTAGAGAATCAAACAAACTGGCAGTTGTCAAATAGAGTCTCTCATTAGTAGACTGTTTAAAATATATAAATAAGTGATAAACAGTAAAAATAAATAATATCACAAGTATCAAGAATGGAAGACTATTATATACATGAATTAAATATCATTTAGTGCATTTTCCTTTGATATTCAACATAATCATAGAAACACAAAGAAGTGCTAATTCTTAAACCTCAGTTTAGTGTCTACTGAAGCACAACTACATACCTTCAAATTTGAGACTTTTGCTTTGCAAAGAGTACAATTAAGCTGTCGCTCACATTCTAAACCTATTTTAAATGTGGGAAGGTAGAGGGCAGTTGTTTACATCCCCAAAATGAGTTGTCTGGAAGTTTTCTGTGATCAGAAATTATAAAGATTTTCTTTCACTACAACTGTAATCACTCAAGTATGTAACAGAAGTACTTTCTGATTATTAAGGAATTTTTTTTTTTTTACTGTGCCCCTTGGCTATAAGAGGATAGATAAATGATAGATATGCAGACCTTACCACAAGGAGAATTTCTGCTATTTCTATAAACTAGTAACTCTTAGTTCATAAAACAAGTTTATTAAGAAAAAAAAAACATGCAACCGCTAATGTCAGCTGACATTTCTCAAAGTAGGCCAGAGTAGAAGAGAGATTACTTCTAGCTAAAGTGAAGCAAATTAAATTTTAAGAAGTTGAATATATTCATTCTCACTTTCATCATATTGCCCACCATCAAGGTGATTATAATATGTATACTGCTTCTTACAAACTCAAAGTAGTTAAAAGCAACTTTTTCCAACTTGTATATTCATAATATCGACAAAAATTATTCAGATATTAAAATTTAATGCTATTTTTAATGTATTTTATAAATAATGTACCTTTAATTATGGGAGAACATTTCAAGGGTTTTAAAGGGTTTTTTGGTTTTTGTTTTTTTTTGGTAATATGGAACATAAAGTACATTTTGGCTAACTTAATTGGCCCTGATTACCCAAAAGCAATTTATTTAAAAAGCAACAAGTATGATTATTTTTAATCCCACAACATCATAAGATTCCATCATTAAAATATATTTTAATATGCATGTAATTATCCATACACAATATGTCAAGCTATTTAAATCAAGTAGTTAAAAGGGGTTCTTACTGCAAAATCTTCTCTCCACTGGTGAGCTGCTTGAACTTTCTCCGCTTCCAATGCCAGGCGCTGAAAAACAAACAATAAATCTTAGAATTCAAATGAACACGTAATATGGAATTGTTATATAAAATGCTTGCGCTTTCTAATCAATTTTGAGGACATAAAAAGCAGAAGATGATCCTTATTTATGATTCATAAATTCTAAATCATTTAGTAATCTAACCTACTAAAGTTGATGTTTGTATATTTACTCTTCAGCAATATAAATAATATACTATTCTTGAATACCATTAAGTTTGTTACCTCTGCCATCATCAGCTATAGTGTCCTCTATGAGTGCTTTCTTTCAATGACTAATACTTCAGTTTTTAGAAAAACACTTAAGTATACTAATTTTCATAGAATCTTATTTTTAGTAAATACCTTTGGAGCATACATTTCTCTTAAAAAATGACATTGAGAGATTAATATGCACTAAACAATATACTAGGCACCTTCTTAAATGCATATTGAGTTTTTACCAAAAGCCACAAAAGCTGAAATAACTTCCCCTTTGATGAAGTACATCTTTAGTAGTTCTTTCAGCGATAATCTTTGATAGAGGATTTGTGCATCTTAAAATTGCTTTATTTCACCTTCAATCGTGTATGCTAAAGTAGTTAAGAATTATAAGCCAATTTATTTTCCTATAGCACTTTCGAAATGCTATTCCATTAAGTTCAGTGGGAGATGACATTGCTAGTGTCAGCCTGCCAATCACTTTTTATAAACTTTTTTTTCCCCTATTCCAATAGCTTTTAGACTTTTCTCTTTGTATTTTTCAACTTCACTATGATGTTCTCCATGTGATAGGCTTTCATAAGACAGTGACATTTAATGGTTAGGAACACAGAGTTGGGGACCCGACTGCCTAGATTTGAATATCAGCCCTTGCAAACTACTAGCTGTGCAACCTTGGGAAAAGTTAAGACTCTTCTCCCATTCTCTCATGTGAGTAATGTGAAAGCCTGCCTCATGGCTTATTGGAAGGACTAAATGAGTTACAAAGTGCTTAGAACAGTGCCTGGCACAAACTAAACAATATATATGTCAACTATCAACTTCAAAGAGTAATGGTTCTGTTTTCTCCCTGGATCCCCTAGAGAAAATAGTGCAGTGTTGAGTTTATTTGTGGTTTGCCTTATGCAGCTAGAAGATAGTGATAAAACTGAGCAAACAGAAAAGTAAATATAATAAATATACTAAACTCACTTATTAAGGTATAGAAATTATCAGGTTAGGTTTAAAAAATTACAAATCTCAGAGTCATTTATTGATTCATGCTGTTTGTGATCTATGAACTATTCCTTAGCGTAAGTTCTTCCTGTGGAGGTCCAGTCTACACTGGATAAACATCCTTCTAGACCAGTTTTTATATTAATGTATTGGCTTCTATCCCTGTGATTATAATCTATTCATTTTTCTAAGCTGTTGCATAGGTTTTATCAGTGACTCTATAATATTGCCTAGTGGGAGATCTCAATTTAAGAGTCCCAAAGCTAAATTTAAGTGAAAATCTATCATAGTGTGCCAAAAGGACAATGGTTTTGTTTTTCACTACTAGGTAGAAATGGAGTATATAAGAAGCTAGGAAATGTTAGAAATTGTACCACATAGAGTAACCAAAAGGCGGCTCCCTCTCCCTACAAAAACAAAAAACTAAGCAGCAAAGCCAAAAGACAAGCATATACATTTCAGGAACACTGCATCATAATACTTTTAGAAACTCAACTTCACATGAAAAATGAAGCAAAACATGAATAAAATGGCAAAAGGAATGGAAATGGAAGCAACTCTTCTATAGAAACACTTCAGTATGGGAAGATAAGGAAAGAGAAGATAGAATGAGAAAATAAGCATGAAGGCTTTTTCTTTTTTTCTTTGTTTTGATATAGGGTCTCACTCTGTCTCCCAGCCTGGAGTACAGTGGTGCAATCATAGCTCCCTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCTAAGTAGCTGGGACTACAGGTTTGCATCAAGAAACCCGGCTTTTTTTTTTTTTTTTTTTTTTTTGGTAAAGATGGGGTCTCAAACTCCTAGCCTCAAATTATCCTCCTATCTC:A,CACNA2D1,VCV004277370,4277370,NM_000722.4(CACNA2D1):c.295-2080_354+3407del,Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,deletion,splice_or_intronic,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.6043553875236295,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4277370,4277370,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,variation_id,,,,locus_or_regional_context,0.25,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:82167142:aagaaatattgcacagatgcacattgttaaataccttaaaagataaaagaattataaagtttaaaagaaggaccttttgaaagatgataaaatttatcttcaaattaaccatttttaaatgtttggttaaaatattgagaaaatttacaattgttttgtgtgctttcacaaaacaagagatttaatgttaatgatttataagtttcaaccacgaatttgaactgtattctgctctggtcttgaaggatttatttaaccttgctgtatctgtgcactaaagcaccacctagtttattaggaacaaaaaaaaagctgagaggaatgtattatttttgtactttttacttatttgagtcttaagattagatagtcttcattgaggttctattctccaagcacaaaaacgaccactatctaaaccttctatcactctatggcatttcaaagggaagggctatcataaagactatgtatggctgccaaggttagatatgggaaatagcaattctcaatgtgcaaactgtgacagacctgtgtcctgtcaacatcattcacggtccttcaggaaggatgctcaggaaatgagttgacaggactctaagtggtctaacttgttttccctttaacagtctcttttgatgtcaatcagtatgtcaacaggccctaaataaattgtgaggtaaccaagggggaaattaggaacagaatttcttcaagaattctcccacatggtgaccaccatttgctaagaattcctaatacttactgggcaaataattcattttctatttcaccatagaagatttagtaatggcttttgtattattgtgggactgatttgtcctcttgcacaatgtttttttagcagtactgctacttggatagaggcaccaaaaaagtagaaaataagggttacatttcaagataatttttttcactttttgacatctctaagaatacagcatacaattgctgatgcatcataatttaagtggcttttttggtgggggcttgggggagatgaggtctctctctgttgcccaggctggagtagtacagtgtcatgatcttggctcactgcaccctccacctcccaggttcaagtgattctcctgcctcagcctaccaagtagctgggattacaggcatgcaccaccacgcacagctaatttttgtatttttagtggagatagggtttctccatgttgacaaggctggttttgaacttctggcctaaagtaatccacccaccttggcctcccaaagtgctgggattacaggtgtaagccaccatgcccggccaagtggctttttcttagaaataactaaaataaatagaatgactaagtgccttacaattgatgatttacattcaataaaatatggtaatagcaaacttgaatttagagtttttgtattgtgtttgtgttgtggttacccattacctcaatatagaaaacaaaataattgccaaatgttagtgttaatgagcccaatattaaagagttcacaatgtctaggaaatgaaaccttatgtctagaaattaataaataatagttaaatgaaacaacaatgatataggcattactacaaccctacttgccaagttatttttttccacattattgctctttagaaaagtgaaaacaacatacaactaataaatgactacttaaaatactaccaaatgaatttaaggcaaagaaaaagggtgctttgaacagggaatgtataatctatatatttcagaggctgagtttgtgtgtctgttttgagttctccgaattactgaagattcaaactaaaacagcaccaagggtattatatctatgctaggcagaatacatgatctagccatacatctattatgactttacactgcttttaccatgcacgctttatgttgtgggacataagggaagagtaatttatatttaatgttgttaatcaaacatatatttagctagatttgttttgctgctttttccctatttgcaaaaacaaaaaaaatcgtttttatctaaaagcaactaagtatattgtaagcctcttcattcactagatgagcttacagtttgctcgatgctctaggagcttatgtttttagcttaatcattgattttttccttaatatatcatggatagcaaattgatctttattaacctgtgtatgataaaggttgtagacaaagccaatacctacataatattaataccaatcaagttaagtgatatgatcagttcagtagagaatcaaacaaactggcagttgtcaaatagagtctctcattagtagactgtttaaaatatataaataagtgataaacagtaaaaataaataatatcacaagtatcaagaatggaagactattatatacatgaattaaatatcatttagtgcattttcctttgatattcaacataatcatagaaacacaaagaagtgctaattcttaaacctcagtttagtgtctactgaagcacaactacataccttcaaatttgagacttttgctttgcaaagagtacaattaagctgtcgctcacattctaaacctattttaaatgtgggaaggtagagggcagttgtttacatccccaaaatgagttgtctggaagttttctgtgatcagaaattataaagattttctttcactacaactgtaatcactcaagtatgtaacagaagtactttctgattattaaggaatttttttttttttactgtgccccttggctataagaggatagataaatgatagatatgcagaccttaccacaaggagaatttctgctatttctataaactagtaactcttagttcataaaacaagtttattaagaaaaaaaaaacatgcaaccgctaatgtcagctgacatttctcaaagtaggccagagtagaagagagattacttctagctaaagtgaagcaaattaaattttaagaagttgaatatattcattctcactttcatcatattgcccaccatcaaggtgattataatatgtatactgcttcttacaaactcaaagtagttaaaagcaactttttccaacttgtatattcataatatcgacaaaaattattcagatattaaaatttaatgctatttttaatgtattttataaataatgtacctttaattatgggagaacatttcaagggttttaaagggttttttggtttttgtttttttttggtaatatggaacataaagtacattttggctaacttaattggccctgattacccaaaagcaatttatttaaaaagcaacaagtatgattatttttaatcccacaacatcataagattccatcattaaaatatattttaatatgcatgtaattatccatacacaatatgtcaagctatttaaatcaagtagttaaaaggggttcttactgcaaaatcttctctccactggtgagctgcttgaactttctccgcttccaatgccaggcgctgaaaaacaaacaataaatcttagaattcaaatgaacacgtaatatggaattgttatataaaatgcttgcgctttctaatcaattttgaggacataaaaagcagaagatgatccttatttatgattcataaattctaaatcatttagtaatctaacctactaaagttgatgtttgtatatttactcttcagcaatataaataatatactattcttgaataccattaagtttgttacctctgccatcatcagctatagtgtcctctatgagtgctttctttcaatgactaatacttcagtttttagaaaaacacttaagtatactaattttcatagaatcttatttttagtaaatacctttggagcatacatttctcttaaaaaatgacattgagagattaatatgcactaaacaatatactaggcaccttcttaaatgcatattgagtttttaccaaaagccacaaaagctgaaataacttcccctttgatgaagtacatctttagtagttctttcagcgataatctttgatagaggatttgtgcatcttaaaattgctttatttcaccttcaatcgtgtatgctaaagtagttaagaattataagccaatttattttcctatagcactttcgaaatgctattccattaagttcagtgggagatgacattgctagtgtcagcctgccaatcactttttataaacttttttttcccctattccaatagcttttagacttttctctttgtatttttcaacttcactatgatgttctccatgtgataggctttcataagacagtgacatttaatggttaggaacacagagttggggacccgactgcctagatttgaatatcagcccttgcaaactactagctgtgcaaccttgggaaaagttaagactcttctcccattctctcatgtgagtaatgtgaaagcctgcctcatggcttattggaaggactaaatgagttacaaagtgcttagaacagtgcctggcacaaactaaacaatatatatgtcaactatcaacttcaaagagtaatggttctgttttctccctggatcccctagagaaaatagtgcagtgttgagtttatttgtggtttgccttatgcagctagaagatagtgataaaactgagcaaacagaaaagtaaatataataaatatactaaactcacttattaaggtatagaaattatcaggttaggtttaaaaaattacaaatctcagagtcatttattgattcatgctgtttgtgatctatgaactattccttagcgtaagttcttcctgtggaggtccagtctacactggataaacatccttctagaccagtttttatattaatgtattggcttctatccctgtgattataatctattcatttttctaagctgttgcataggttttatcagtgactctataatattgcctagtgggagatctcaatttaagagtcccaaagctaaatttaagtgaaaatctatcatagtgtgccaaaaggacaatggttttgtttttcactactaggtagaaatggagtatataagaagctaggaaatgttagaaattgtaccacatagagtaaccaaaaggcggctccctctccctacaaaaacaaaaaactaagcagcaaagccaaaagacaagcatatacatttcaggaacactgcatcataatacttttagaaactcaacttcacatgaaaaatgaagcaaaacatgaataaaatggcaaaaggaatggaaatggaagcaactcttctatagaaacacttcagtatgggaagataaggaaagagaagatagaatgagaaaataagcatgaaggctttttctttttttctttgttttgatatagggtctcactctgtctcccagcctggagtacagtggtgcaatcatagctccctgcagccttgacctcctgggctcaagtgatcctcccacttcagcctcctaagtagctgggactacaggtttgcatcaagaaacccggcttttttttttttttttttttttttggtaaagatggggtctcaaactcctagcctcaaattatcctcctatctc:a|deletion,False,False +7:82084801:C:T,CACNA2D1,VCV001802181,1802181,NM_000722.4(CACNA2D1):c.626G>A (p.Gly209Asp),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,no_gnomad_record,not_observed_in_gnomAD,SNV,missense,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,1802181,1802181,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,variation_id,,,,locus_or_regional_context,0.25,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:82084801:c:t|snv,False,False +7:82060485:T:TGTTC,CACNA2D1,VCV001802179,1802179,NM_000722.4(CACNA2D1):c.818_821dup (p.Ser275fs),Pathogenic,no assertion criteria provided,weak_or_no_assertion,0,,unavailable,allele_discordance,allele_discordance_no_exact_AF,duplication,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.75,0.382680412371134,,,,,,,,,gray_no_frequency_evidence,False,,allele_discordance_no_exact_AF,1802179,1802179,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,Developmental and epileptic encephalopathy 110,variation_id,,,,representation_repairable,0.45,Brugada,gene_context_fallback,1,-0.0,Brugada,provocation_dependent,0.8,limited,0.25,dominant,channelopathy,True,False,False,0.5,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:82060485:t:tgttc|duplication,False,False +7:91993050:C:T,AKAP9,VCV004687971,4687971,NM_005751.5(AKAP9):c.571C>T (p.Gln191Ter),Likely pathogenic,"criteria provided, single submitter",single_submitter,1,1.0,review_status_lower_bound,no_gnomad_record,not_observed_in_gnomAD,SNV,LOF,0.0,,,0.0,,,,,,,False,False,False,False,True,0.5,0.811340206185567,,,,,,,,,gray_no_frequency_evidence,False,,not_observed_in_gnomAD,4687971,4687971,Long QT syndrome 11,Long QT syndrome 11,Long QT syndrome 11,variation_id,,,,locus_or_regional_context,0.25,LQTS,assertion_condition_label,1,-0.0,LQTS,ECG_visible,1.0,limited,0.25,dominant,scaffolding,False,False,False,0.0,False,2.5e-05,,False,False,False,True,False,False,False,False,False,unanchored_assertion_state,unanchored_assertion_state,7:91993050:c:t|snv,False,False diff --git a/data/processed/cab_svad_gene_context_summary.csv b/data/processed/cab_svad_gene_context_summary.csv new file mode 100644 index 0000000..63e8cb2 --- /dev/null +++ b/data/processed/cab_svad_gene_context_summary.csv @@ -0,0 +1,4 @@ +anchor_flag,flag_value,n_assertions,collision_fraction,unanchored_fraction,canonical_fraction,sads_fraction,lqts_fraction,median_condition_entropy,median_popmax_af +svad_gene_context_flag,False,290,0.9379310344827586,0.6379310344827587,0.013793103448275862,0.05172413793103448,0.4206896551724138,1.0,0.0 +svad_gene_context_flag,True,1441,0.47952810548230396,0.8410825815405968,0.08258154059680778,0.20471894517696043,0.7758501040943789,0.0,0.0 +svad_hgvs_string_overlap_flag,False,1731,0.5563258232235702,0.8070479491623339,0.07105719237435008,0.17908723281340266,0.7163489312536107,0.0,0.0 diff --git a/reports/cab_clinvar_label_mining_report.md b/reports/cab_clinvar_label_mining_report.md new file mode 100644 index 0000000..bde12b6 --- /dev/null +++ b/reports/cab_clinvar_label_mining_report.md @@ -0,0 +1,59 @@ +# CAB ClinVar label-mining report + +## Purpose + +This analysis mines public condition/phenotype strings attached to CAB assertions for symptom, death-context, familial, provocation, structural, and channelopathy language. These are label-level signals, not patient-level phenotypes. + +Input: `data\processed\arrhythmia_vital_scores_with_conditions.csv` +Assertions analyzed: 1,731 + +Text columns used: + +```text +condition_labels +title +condition_groups +condition_from_variation_id +condition_from_vcv +condition_label_join_source +is_disease_model_collision +condition_entropy +``` + +## Label flag summary + +```text + flag n_assertions percent +label_any_symptom_or_context_flag 1445 83.477759 + label_channelopathy_flag 1389 80.242634 + label_any_death_context_flag 311 17.966493 + label_sads_flag 310 17.908723 + label_provocation_flag 262 15.135760 + label_familial_flag 21 1.213172 + label_structural_flag 17 0.982091 + label_syncope_flag 1 0.057770 + label_cardiac_arrest_flag 1 0.057770 + label_sudden_death_flag 0 0.000000 +``` + +## By CAB regime + +```text + primary_regime n_assertions frac_syncope frac_sudden_death frac_sads frac_cardiac_arrest frac_familial frac_provocation frac_structural frac_channelopathy frac_any_death_context frac_any_symptom_or_context frac_disease_model_collision frac_unanchored_assertion_state frac_canonical_monogenic + disease_model_collision 963 0.001038 0.0 0.321911 0.001038 0.016615 0.272066 0.011423 0.849429 0.322949 0.898235 1.0 0.78297 0.000000 +unanchored_assertion_state 643 0.000000 0.0 0.000000 0.000000 0.007776 0.000000 0.007776 0.746501 0.000000 0.758942 0.0 1.00000 0.000000 + canonical_monogenic 87 0.000000 0.0 0.000000 0.000000 0.000000 0.000000 0.011494 0.666667 0.000000 0.678161 0.0 0.00000 1.000000 + ancestry_concentrated 29 0.000000 0.0 0.000000 0.000000 0.000000 0.000000 0.000000 0.827586 0.000000 0.827586 0.0 0.00000 0.965517 + penetrance_boundary 8 0.000000 0.0 0.000000 0.000000 0.000000 0.000000 0.000000 1.000000 0.000000 1.000000 0.0 0.00000 1.000000 + unknown_or_insufficient 1 0.000000 0.0 0.000000 0.000000 0.000000 0.000000 0.000000 1.000000 0.000000 1.000000 0.0 0.00000 0.000000 +``` + +## By clinical disease group + +```text +No clinical_disease_group column found. +``` + +## Interpretation boundary + +ClinVar label mining does not prove that a proband had syncope, sudden death, family history, or exercise-provoked disease. It identifies which public assertion labels carry those concepts and how they distribute across CAB regimes. \ No newline at end of file diff --git a/reports/cab_inference_architecture_figure_captions.md b/reports/cab_inference_architecture_figure_captions.md new file mode 100644 index 0000000..7b16d2c --- /dev/null +++ b/reports/cab_inference_architecture_figure_captions.md @@ -0,0 +1,17 @@ +# CAB inference architecture figure captions + +## Figure: CAB variant-assertion regime distribution + +Distribution of primary CAB regimes among public inherited-arrhythmia P/LP assertions. Disease-model collision and unanchored assertion states dominate the landscape, whereas canonical monogenic assertions form a small minority. + +## Figure: Clinical inference environment collision fractions + +Disease-model collision fraction across clinical inference environments. LQTS occupies a comparatively phenotype-first ECG/QTc-anchored environment, while SADS, CPVT, Brugada, SQTS, and structural-electrical overlap contexts show higher collision burden. + +## Figure: MUSIC phenotype-first electrical-risk anchor + +Frequency of ECG/Holter-derived electrical-risk proxy components in the MUSIC cohort. MUSIC is used as an orthogonal phenotype-first anchor, not as a genetic dataset or patient-level SCD classifier. + +## Figure: CAB inference architecture panel + +Integrated architecture map spanning variant-assertion regimes, clinical inference environments, and the MUSIC phenotype-first electrical-risk anchor. The panel summarizes the central claim that inherited-arrhythmia variant assertions behave as context-sensitive probes of disease architecture rather than static portable disease labels. diff --git a/reports/cab_single_model_stress_test_report.md b/reports/cab_single_model_stress_test_report.md new file mode 100644 index 0000000..84c0036 --- /dev/null +++ b/reports/cab_single_model_stress_test_report.md @@ -0,0 +1,81 @@ +# CAB single-model stress test + +## Purpose + +This module stress-tests a **collapsed single portable monogenic disease-label** reading of inherited-arrhythmia public P/LP assertions. It is an interpretability / framework diagnostic: it does **not** reclassify pathogenicity, replace clinical judgment, or merge distinct patient-level cohorts (MUSIC, SVAD, ACDC, MIT-BIH, PhysioNet remain separate analytic anchors). + +## Key global results + +- **Total assertions:** 1731 +- **Repair required:** 93.24% (1614 assertions) +- **Tension class distribution:** compatible 4.91%; moderate 44.54%; high 16.98%; multi-regime 33.56% +- **Evidence collision index:** median 3.000, mean 3.007 + +- **Inference architecture (variant landscape):** Architecture map (collision + unanchored percent): 92.7787406123628 — Public P/LP assertions mostly do not occupy clean canonical monogenic states after allele, population, and disease-model projection. + +## By primary regime + +| primary_regime | n_assertions | repair_required_fraction | median_evidence_collision_index | mean_evidence_collision_index | fraction_single_model_compatible | fraction_moderate_tension | fraction_high_tension | fraction_multi_regime_required | +| --- | --- | --- | --- | --- | --- | --- | --- | --- | +| ancestry_concentrated | 29 | 0.1379 | 1 | 1.138 | 0 | 1 | 0 | 0 | +| canonical_monogenic | 87 | 0.02299 | 0 | 0.02299 | 0.977 | 0.02299 | 0 | 0 | +| disease_model_collision | 963 | 1 | 5 | 4.671 | 0 | 0.0945 | 0.3022 | 0.6033 | +| penetrance_boundary | 8 | 0.125 | 1 | 1.125 | 0 | 1 | 0 | 0 | +| unanchored_assertion_state | 643 | 1 | 1 | 1.03 | 0 | 0.9953 | 0.004666 | 0 | +| unknown_or_insufficient | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | + +## Top 20 genes by mean evidence collision index + +| gene | n_assertions | repair_required_fraction | median_evidence_collision_index | mean_evidence_collision_index | dominant_primary_regime | svad_gene_context_flag_fraction | death_context_label_fraction | provocation_label_fraction | +| --- | --- | --- | --- | --- | --- | --- | --- | --- | +| RYR2 | 183 | 1 | 6 | 5.743 | disease_model_collision | 1 | 0.1639 | 0.8033 | +| SCN5A | 394 | 1 | 6 | 5.18 | disease_model_collision | 1 | 0.6751 | 0 | +| CACNA1C | 85 | 1 | 5 | 4.6 | disease_model_collision | 1 | 0 | 0 | +| CASQ2 | 65 | 1 | 4 | 4.4 | disease_model_collision | 0 | 0.04615 | 0.9538 | +| CALM1 | 15 | 1 | 5 | 4.4 | disease_model_collision | 0 | 0.2 | 0.6 | +| TRDN | 51 | 1 | 4 | 4.392 | disease_model_collision | 0 | 0.1373 | 0.8627 | +| KCNJ2 | 29 | 1 | 3 | 2.862 | disease_model_collision | 0 | 0 | 0 | +| ANK2 | 86 | 1 | 3 | 2.477 | disease_model_collision | 0 | 0 | 0 | +| CALM3 | 8 | 1 | 2 | 2.375 | disease_model_collision | 0 | 0.125 | 0 | +| HCN4 | 18 | 1 | 2 | 2.278 | unanchored_assertion_state | 0 | 0 | 0 | +| CALM2 | 13 | 1 | 2 | 2.077 | disease_model_collision | 0 | 0.07692 | 0 | +| CACNB2 | 1 | 1 | 2 | 2 | ancestry_concentrated | 1 | 0 | 0 | +| CACNA2D1 | 4 | 1 | 2 | 1.75 | unanchored_assertion_state | 0 | 0 | 0 | +| KCNQ1 | 286 | 0.8427 | 1 | 1.045 | unanchored_assertion_state | 1 | 0 | 0 | +| AKAP9 | 1 | 1 | 1 | 1 | unanchored_assertion_state | 0 | 0 | 0 | +| KCNE1 | 14 | 0.6429 | 1 | 0.9286 | unanchored_assertion_state | 1 | 0 | 0 | +| KCNH2 | 478 | 0.8598 | 1 | 0.9226 | unanchored_assertion_state | 1 | 0 | 0 | + +## Clinical environment summary + +| clinical_disease_group | n_assertions | repair_required_fraction | median_evidence_collision_index | mean_evidence_collision_index | fraction_multi_regime_required | death_context_label_fraction | provocation_label_fraction | +| --- | --- | --- | --- | --- | --- | --- | --- | +| Brugada | 181 | 1 | 4 | 4.204 | 0.4254 | 0 | 0 | +| CPVT | 258 | 1 | 5 | 5.229 | 0.7597 | 0.003876 | 1 | +| LQTS | 883 | 0.872 | 1 | 1.189 | 0 | 0 | 0 | +| SADS | 310 | 1 | 6 | 5.819 | 0.971 | 1 | 0 | +| SQTS | 23 | 1 | 3 | 2.826 | 0 | 0 | 0 | +| arrhythmia | 50 | 0.92 | 2 | 1.7 | 0 | 0 | 0 | +| cardiomyopathy_overlap | 17 | 1 | 4 | 4.176 | 0.4118 | 0 | 0.2353 | +| conduction | 9 | 1 | 2 | 2.222 | 0 | 0 | 0 | + +### Reference: clinical inference summary (processed cohort counts) + +| clinical_disease_group | inference_mode | primary_phenotype_tool | n_assertions | n_genes | collision_fraction | unanchored_fraction | canonical_fraction | ancestry_concentrated_fraction | penetrance_boundary_fraction | median_condition_entropy | median_popmax_af | median_phenotype_anchoring_score | median_genotype_substitution_score | +| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | +| LQTS | phenotype-first with genotype support | ECG/QTc; Schwartz score components; exercise recovery QTc | 883 | 11 | 0.1846 | 0.8301 | 0.128 | 0.0419 | 0.05323 | -0 | 0 | 0.9 | 0.25 | +| SADS | genotype-first/postmortem | Postmortem absence of explanatory phenotype; family cascade; molecular autopsy | 310 | 7 | 1 | 0.871 | 0 | 0.02581 | 0.03226 | 2 | 0 | 0.2 | 1 | +| CPVT | provocation-dependent | exercise or adrenergic stress testing; bidirectional/polymorphic ventricular tachycardia | 258 | 4 | 1 | 0.6705 | 0 | 0.07364 | 0.03488 | 1 | 0 | 0.65 | 0.4 | +| Brugada | context/provocation-dependent | Type 1 ECG pattern; fever/drug provocation; Shanghai-style clinical scoring | 181 | 6 | 0.9282 | 0.8398 | 0.0221 | 0.04972 | 0.0663 | 1 | 0 | 0.65 | 0.4 | +| arrhythmia | intermittent rhythm phenotype | ECG/Holter/patch monitoring; episode burden; clinical context | 50 | 6 | 0.52 | 0.7 | 0.08 | 0.12 | 0.14 | -0 | 0 | 0.55 | 0 | +| SQTS | phenotype-first with genotype support | ECG QT shortening; clinical/family context | 23 | 2 | 0.9565 | 0.7391 | 0.04348 | 0.08696 | 0.2174 | -0 | 0 | 0.9 | 0.25 | +| cardiomyopathy_overlap | structural-electrical hybrid | Cardiac MRI/echo; ECG; ventricular arrhythmia burden; family/genetic criteria | 17 | 5 | 0.6471 | 0.5294 | 0.05882 | 0 | 0.1176 | 1 | 0 | 0.75 | 0 | +| conduction | intermittent/electrical phenotype | ECG conduction intervals; rhythm monitoring; family history | 9 | 4 | 0.5556 | 0.8889 | 0 | 0 | 0 | -0 | 0 | 0.55 | 0.4 | + +## Interpretation boundary + +Results describe **label and regime tension under a deliberately collapsed interpretive model**. They are not recommendations for variant reclassification or for patient management. + +## Manuscript-ready result paragraph + +Across public pathogenic and likely-pathogenic inherited-arrhythmia assertions, a single collapsed monogenic disease-label frame systematically intersects anchoring fragility, multi-condition entropy, provocation- and death-context language, pleiotropic gene context, and regime boundaries that a portable one-label model cannot simultaneously honor. **CAB regimes are not descriptive clusters; they are the minimum structure required to avoid contradictory interpretation under a collapsed single-model framework.** The single-model stress test quantifies where that collapse fails or would require explicit repair—not to adjudicate pathogenicity, but to make interpretive contradictions visible. diff --git a/reports/cab_small_external_metadata_download_report.md b/reports/cab_small_external_metadata_download_report.md new file mode 100644 index 0000000..001b5a7 --- /dev/null +++ b/reports/cab_small_external_metadata_download_report.md @@ -0,0 +1,15 @@ +# CAB small external metadata download report + +- physionet_scd_holter / RECORDS: exists (69 bytes) -> `data\raw\physionet_scd_holter\RECORDS` +- physionet_scd_holter / ANNOTATORS: exists (62 bytes) -> `data\raw\physionet_scd_holter\ANNOTATORS` +- physionet_scd_holter / SHA256SUMS.txt: exists (7898 bytes) -> `data\raw\physionet_scd_holter\SHA256SUMS.txt` +- mit_bih_arrhythmia / RECORDS: exists (192 bytes) -> `data\raw\mit_bih_arrhythmia\RECORDS` +- mit_bih_arrhythmia / ANNOTATORS: exists (59 bytes) -> `data\raw\mit_bih_arrhythmia\ANNOTATORS` +- mit_bih_arrhythmia / SHA256SUMS.txt: exists (60849 bytes) -> `data\raw\mit_bih_arrhythmia\SHA256SUMS.txt` +- music / subject-info.csv: exists (308285 bytes) -> `data\raw\music\subject-info.csv` +- music / subject-info_codes.csv: exists (2401 bytes) -> `data\raw\music\subject-info_codes.csv` +- music / subject-info_definitions.csv: exists (917 bytes) -> `data\raw\music\subject-info_definitions.csv` + +## Boundary + +This script intentionally avoids downloading waveform folders or large archives. It only retrieves metadata needed to document phenotype/death environment anchors. \ No newline at end of file diff --git a/reports/cab_svad_gene_context_overlay_report.md b/reports/cab_svad_gene_context_overlay_report.md new file mode 100644 index 0000000..bc56307 --- /dev/null +++ b/reports/cab_svad_gene_context_overlay_report.md @@ -0,0 +1,30 @@ +# CAB SVAD gene-context overlay report + +SVAD rows: 2,169 +SVAD genes: 12 +CAB assertions in SVAD gene context: 1,441 / 1,731 +CAB assertions with raw HGVS-string overlap: 0 / 1,731 + +## Regime summary + +```text + anchor_flag flag_value n_assertions collision_fraction unanchored_fraction canonical_fraction sads_fraction lqts_fraction median_condition_entropy median_popmax_af + svad_gene_context_flag False 290 0.937931 0.637931 0.013793 0.051724 0.420690 1.0 0.0 + svad_gene_context_flag True 1441 0.479528 0.841083 0.082582 0.204719 0.775850 0.0 0.0 +svad_hgvs_string_overlap_flag False 1731 0.556326 0.807048 0.071057 0.179087 0.716349 0.0 0.0 +``` + +## Top SVAD-context genes + +```text + gene cab_assertions collision_fraction unanchored_fraction canonical_fraction svad_gene svad_rows svad_gene_context_flag + RYR2 183 0.961749 0.852459 0.000000 RYR2 945 True + SCN5A 394 1.000000 0.855330 0.000000 SCN5A 300 True + KCNQ1 286 0.090909 0.804196 0.160839 KCNQ1 180 True + KCNH2 478 0.020921 0.851464 0.142259 KCNH2 131 True +CACNA1C 85 1.000000 0.858824 0.000000 CACNA1C 35 True + KCNE1 14 0.000000 0.642857 0.357143 KCNE1 10 True + CACNB2 1 0.000000 0.000000 0.000000 CACNB2 6 True +``` + +Gene-context overlap is not allele-level validation. It is a death-context gene-space anchor. \ No newline at end of file diff --git a/reports/figures/cab_clinical_environment_collision.png b/reports/figures/cab_clinical_environment_collision.png new file mode 100644 index 0000000..cb9e79c Binary files /dev/null and b/reports/figures/cab_clinical_environment_collision.png differ diff --git a/reports/figures/cab_inference_architecture_panel.png b/reports/figures/cab_inference_architecture_panel.png new file mode 100644 index 0000000..25140b4 Binary files /dev/null and b/reports/figures/cab_inference_architecture_panel.png differ diff --git a/reports/figures/cab_music_electrical_risk_flags.png b/reports/figures/cab_music_electrical_risk_flags.png new file mode 100644 index 0000000..abd345e Binary files /dev/null and b/reports/figures/cab_music_electrical_risk_flags.png differ diff --git a/reports/figures/cab_regime_distribution.png b/reports/figures/cab_regime_distribution.png new file mode 100644 index 0000000..7893cc7 Binary files /dev/null and b/reports/figures/cab_regime_distribution.png differ diff --git a/reports/figures/cab_single_model_environment_tension.png b/reports/figures/cab_single_model_environment_tension.png new file mode 100644 index 0000000..26980c9 Binary files /dev/null and b/reports/figures/cab_single_model_environment_tension.png differ diff --git a/reports/figures/cab_single_model_gene_tension_top20.png b/reports/figures/cab_single_model_gene_tension_top20.png new file mode 100644 index 0000000..d6dc851 Binary files /dev/null and b/reports/figures/cab_single_model_gene_tension_top20.png differ diff --git a/reports/figures/cab_single_model_tension_distribution.png b/reports/figures/cab_single_model_tension_distribution.png new file mode 100644 index 0000000..1426c62 Binary files /dev/null and b/reports/figures/cab_single_model_tension_distribution.png differ diff --git a/src/download_cab_small_external_metadata.py b/src/download_cab_small_external_metadata.py new file mode 100644 index 0000000..3af96f7 --- /dev/null +++ b/src/download_cab_small_external_metadata.py @@ -0,0 +1,93 @@ +from __future__ import annotations + +"""Download small external metadata anchors for CAB. + +This script deliberately downloads only small metadata files, not waveform folders +or giant archives. Humanity has already produced enough accidental hard-drive +stress tests. + +Targets handled here: +- PhysioNet Sudden Cardiac Death Holter Database small metadata files. +- MIT-BIH Arrhythmia Database small metadata files. +- MUSIC small metadata files, if missing. + +Variant-level anchors such as SVAD and Color Data v2 usually need manual source +search because stable direct URLs are not guaranteed. +""" + +from pathlib import Path +import argparse +import urllib.request + +BASE_DIR = Path(__file__).resolve().parents[1] +RAW_DIR = BASE_DIR / "data" / "raw" +REPORT_DIR = BASE_DIR / "reports" +REPORT_OUT = REPORT_DIR / "cab_small_external_metadata_download_report.md" + +TARGETS = { + "physionet_scd_holter": { + "url_base": "https://physionet.org/files/sddb/1.0.0/", + "local_dir": RAW_DIR / "physionet_scd_holter", + "files": ["RECORDS", "ANNOTATORS", "SHA256SUMS.txt"], + }, + "mit_bih_arrhythmia": { + "url_base": "https://physionet.org/files/mitdb/1.0.0/", + "local_dir": RAW_DIR / "mit_bih_arrhythmia", + "files": ["RECORDS", "ANNOTATORS", "SHA256SUMS.txt"], + }, + "music": { + "url_base": "https://physionet.org/files/music-sudden-cardiac-death/1.0.1/", + "local_dir": RAW_DIR / "music", + "files": ["subject-info.csv", "subject-info_codes.csv", "subject-info_definitions.csv"], + }, +} + + +def download(url: str, output: Path, force: bool = False) -> tuple[str, str, int]: + output.parent.mkdir(parents=True, exist_ok=True) + if output.exists() and output.stat().st_size > 0 and not force: + return (str(output.relative_to(BASE_DIR)), "exists", output.stat().st_size) + request = urllib.request.Request(url, headers={"User-Agent": "CAB-small-anchor-downloader/1.0"}) + try: + with urllib.request.urlopen(request, timeout=60) as response: + data = response.read() + except Exception as exc: + return (str(output.relative_to(BASE_DIR)), f"failed: {exc}", 0) + output.write_bytes(data) + return (str(output.relative_to(BASE_DIR)), "downloaded", len(data)) + + +def main() -> None: + parser = argparse.ArgumentParser(description="Download small external metadata anchor files only.") + parser.add_argument("--force", action="store_true") + parser.add_argument("--targets", nargs="*", default=list(TARGETS), choices=list(TARGETS)) + args = parser.parse_args() + + rows = [] + for target_name in args.targets: + target = TARGETS[target_name] + for filename in target["files"]: + url = target["url_base"] + filename + output = target["local_dir"] / filename + path, status, size = download(url, output, force=args.force) + rows.append({"target": target_name, "file": filename, "path": path, "status": status, "size_bytes": size, "url": url}) + print(f"{target_name}: {filename}: {status} ({size} bytes)") + + REPORT_DIR.mkdir(parents=True, exist_ok=True) + lines = ["# CAB small external metadata download report", ""] + for row in rows: + lines.append(f"- {row['target']} / {row['file']}: {row['status']} ({row['size_bytes']} bytes) -> `{row['path']}`") + lines.extend( + [ + "", + "## Boundary", + "", + "This script intentionally avoids downloading waveform folders or large archives. It only retrieves metadata needed to document phenotype/death environment anchors.", + ] + ) + REPORT_OUT.write_text("\n".join(lines), encoding="utf-8") + print(f"wrote {REPORT_OUT.relative_to(BASE_DIR)}") + + +if __name__ == "__main__": + main() diff --git a/src/plot_cab_inference_architecture.py b/src/plot_cab_inference_architecture.py new file mode 100644 index 0000000..6ad46ff --- /dev/null +++ b/src/plot_cab_inference_architecture.py @@ -0,0 +1,230 @@ +from __future__ import annotations + +"""Plot CAB inference architecture figures. + +Inputs expected from prior pipeline steps: +- data/processed/cab_biological_regime_summary.csv +- data/processed/cab_clinical_inference_summary.csv +- data/processed/cab_music_electrical_risk_summary.csv +- data/processed/cab_inference_architecture_map.csv + +Outputs: +- reports/figures/cab_regime_distribution.png +- reports/figures/cab_clinical_environment_collision.png +- reports/figures/cab_music_electrical_risk_flags.png +- reports/figures/cab_inference_architecture_panel.png + +No seaborn. No custom colors. No internet. No academic cosplay. +""" + +from pathlib import Path +import textwrap + +import matplotlib.pyplot as plt +import pandas as pd + +BASE_DIR = Path(__file__).resolve().parents[1] +DATA_DIR = BASE_DIR / "data" / "processed" +FIG_DIR = BASE_DIR / "reports" / "figures" +REPORT_DIR = BASE_DIR / "reports" + +REGIME_SUMMARY = DATA_DIR / "cab_biological_regime_summary.csv" +CLINICAL_SUMMARY = DATA_DIR / "cab_clinical_inference_summary.csv" +MUSIC_SUMMARY = DATA_DIR / "cab_music_electrical_risk_summary.csv" +ARCHITECTURE_MAP = DATA_DIR / "cab_inference_architecture_map.csv" + +FIG_REGIME = FIG_DIR / "cab_regime_distribution.png" +FIG_CLINICAL = FIG_DIR / "cab_clinical_environment_collision.png" +FIG_MUSIC = FIG_DIR / "cab_music_electrical_risk_flags.png" +FIG_PANEL = FIG_DIR / "cab_inference_architecture_panel.png" +CAPTION_OUT = REPORT_DIR / "cab_inference_architecture_figure_captions.md" + + +def require_file(path: Path) -> None: + if not path.exists(): + raise FileNotFoundError( + f"Missing required input: {path}\n" + "Run the upstream scripts first, e.g. run_cab_inference_architecture_map.py." + ) + + +def save_current(path: Path) -> None: + path.parent.mkdir(parents=True, exist_ok=True) + plt.tight_layout() + plt.savefig(path, dpi=300, bbox_inches="tight") + plt.close() + print(f"wrote {path.relative_to(BASE_DIR)}") + + +def wrap_labels(labels: list[str], width: int = 18) -> list[str]: + return ["\n".join(textwrap.wrap(str(label), width=width)) for label in labels] + + +def plot_regime_distribution(regime: pd.DataFrame) -> None: + frame = regime.sort_values("percent", ascending=True).copy() + fig_height = max(4.5, 0.55 * len(frame) + 1.5) + plt.figure(figsize=(8, fig_height)) + bars = plt.barh(frame["primary_regime"], frame["percent"]) + plt.xlabel("Assertions (%)") + plt.ylabel("Primary CAB regime") + plt.title("CAB variant-assertion regime distribution") + plt.xlim(0, max(100, frame["percent"].max() * 1.15)) + for bar, pct, n in zip(bars, frame["percent"], frame["n_assertions"]): + plt.text(bar.get_width() + 0.8, bar.get_y() + bar.get_height() / 2, f"{pct:.1f}%\n(n={int(n)})", va="center", fontsize=8) + save_current(FIG_REGIME) + + +def plot_clinical_collision(clinical: pd.DataFrame) -> None: + frame = clinical.sort_values("collision_fraction", ascending=True).copy() + frame["collision_percent"] = frame["collision_fraction"] * 100.0 + labels = wrap_labels(frame["clinical_disease_group"].tolist(), width=16) + fig_height = max(4.5, 0.55 * len(frame) + 1.5) + plt.figure(figsize=(8.5, fig_height)) + bars = plt.barh(labels, frame["collision_percent"]) + plt.xlabel("Disease-model collision (%)") + plt.ylabel("Clinical inference environment") + plt.title("Collision fraction differs across clinical inference environments") + plt.xlim(0, 105) + for bar, pct, n in zip(bars, frame["collision_percent"], frame["n_assertions"]): + plt.text(bar.get_width() + 1.0, bar.get_y() + bar.get_height() / 2, f"{pct:.1f}%\n(n={int(n)})", va="center", fontsize=8) + save_current(FIG_CLINICAL) + + +def plot_music_flags(music: pd.DataFrame) -> None: + keep = [ + "music_electrical_risk_flag", + "music_electrical_risk_high_flag", + "music_low_lvef_flag", + "music_qrs_wide_flag", + "music_qtc_prolonged_flag", + "music_vt_flag", + "music_vpb_burden_high_flag", + "music_nsvt_flag", + "music_syncope_flag", + "music_qtc_severe_flag", + "music_hrv_low_flag", + ] + frame = music[music["flag"].isin(keep)].copy() + frame = frame.sort_values("percent", ascending=True) + pretty = { + "music_electrical_risk_flag": "Electrical-risk proxy ≥3", + "music_electrical_risk_high_flag": "High electrical-risk proxy ≥5", + "music_low_lvef_flag": "Low LVEF ≤35%", + "music_qrs_wide_flag": "Wide QRS", + "music_qtc_prolonged_flag": "QTc prolonged", + "music_vt_flag": "Ventricular tachycardia", + "music_vpb_burden_high_flag": "High ventricular ectopy burden", + "music_nsvt_flag": "Nonsustained VT", + "music_syncope_flag": "Syncope", + "music_qtc_severe_flag": "QTc ≥500 ms", + "music_hrv_low_flag": "Low HRV", + } + labels = wrap_labels([pretty.get(x, x) for x in frame["flag"]], width=22) + fig_height = max(5.5, 0.55 * len(frame) + 1.5) + plt.figure(figsize=(9, fig_height)) + bars = plt.barh(labels, frame["percent"]) + plt.xlabel("MUSIC patients (%)") + plt.ylabel("ECG/Holter-derived risk component") + plt.title("MUSIC phenotype-first electrical-risk anchor") + plt.xlim(0, max(65, frame["percent"].max() * 1.15)) + for bar, pct, n in zip(bars, frame["percent"], frame["n_true"]): + plt.text(bar.get_width() + 0.8, bar.get_y() + bar.get_height() / 2, f"{pct:.1f}%\n(n={int(float(n))})", va="center", fontsize=8) + save_current(FIG_MUSIC) + + +def plot_architecture_panel(architecture: pd.DataFrame) -> None: + key_rows = architecture[ + architecture["architecture_layer"].isin( + [ + "variant_assertion_landscape", + "canonical_mendelian_minor_state", + "phenotype_first_electrical_risk_anchor", + "phenotype_first_high_risk_anchor", + ] + ) + ].copy() + + clinical_rows = architecture[architecture["architecture_layer"].eq("clinical_inference_environment")].copy() + clinical_rows = clinical_rows.sort_values("key_value", ascending=False) + + fig = plt.figure(figsize=(13, 8)) + + ax1 = fig.add_axes([0.07, 0.56, 0.40, 0.34]) + labels1 = wrap_labels(key_rows["dominant_signal"].tolist(), width=24) + ax1.barh(labels1, key_rows["key_value"]) + ax1.set_xlabel("Percent") + ax1.set_title("Core architecture metrics") + ax1.set_xlim(0, max(100, key_rows["key_value"].max() * 1.15)) + for y, value in enumerate(key_rows["key_value"]): + ax1.text(value + 1.0, y, f"{value:.1f}%", va="center", fontsize=8) + + ax2 = fig.add_axes([0.58, 0.56, 0.35, 0.34]) + labels2 = wrap_labels(clinical_rows["unit_of_analysis"].tolist(), width=14) + ax2.barh(labels2, clinical_rows["key_value"]) + ax2.set_xlabel("Collision (%)") + ax2.set_title("Clinical inference environments") + ax2.set_xlim(0, 105) + for y, value in enumerate(clinical_rows["key_value"]): + ax2.text(value + 1.0, y, f"{value:.1f}%", va="center", fontsize=8) + + ax3 = fig.add_axes([0.08, 0.12, 0.84, 0.30]) + ax3.axis("off") + text = ( + "CAB inference architecture: public inherited-arrhythmia P/LP assertions are dominated by " + "disease-model collision and unanchored assertion states, while canonical monogenic assertions " + "form a small minority. Clinical labels occupy distinct inference environments: LQTS is ECG/QTc-" + "anchored, Brugada and CPVT are context/provocation-dependent, cardiomyopathy-overlap is " + "structural-electrical, and SADS is genotype-first/postmortem. MUSIC provides the opposite " + "phenotype-first pole, where electrical risk is measured by ECG/Holter variables without variant data." + ) + ax3.text(0, 0.95, textwrap.fill(text, width=135), va="top", fontsize=11) + + FIG_PANEL.parent.mkdir(parents=True, exist_ok=True) + plt.savefig(FIG_PANEL, dpi=300, bbox_inches="tight") + plt.close() + print(f"wrote {FIG_PANEL.relative_to(BASE_DIR)}") + + +def write_captions() -> None: + captions = """# CAB inference architecture figure captions + +## Figure: CAB variant-assertion regime distribution + +Distribution of primary CAB regimes among public inherited-arrhythmia P/LP assertions. Disease-model collision and unanchored assertion states dominate the landscape, whereas canonical monogenic assertions form a small minority. + +## Figure: Clinical inference environment collision fractions + +Disease-model collision fraction across clinical inference environments. LQTS occupies a comparatively phenotype-first ECG/QTc-anchored environment, while SADS, CPVT, Brugada, SQTS, and structural-electrical overlap contexts show higher collision burden. + +## Figure: MUSIC phenotype-first electrical-risk anchor + +Frequency of ECG/Holter-derived electrical-risk proxy components in the MUSIC cohort. MUSIC is used as an orthogonal phenotype-first anchor, not as a genetic dataset or patient-level SCD classifier. + +## Figure: CAB inference architecture panel + +Integrated architecture map spanning variant-assertion regimes, clinical inference environments, and the MUSIC phenotype-first electrical-risk anchor. The panel summarizes the central claim that inherited-arrhythmia variant assertions behave as context-sensitive probes of disease architecture rather than static portable disease labels. +""" + CAPTION_OUT.write_text(captions, encoding="utf-8") + print(f"wrote {CAPTION_OUT.relative_to(BASE_DIR)}") + + +def main() -> None: + for path in [REGIME_SUMMARY, CLINICAL_SUMMARY, MUSIC_SUMMARY, ARCHITECTURE_MAP]: + require_file(path) + + regime = pd.read_csv(REGIME_SUMMARY) + clinical = pd.read_csv(CLINICAL_SUMMARY) + music = pd.read_csv(MUSIC_SUMMARY) + architecture = pd.read_csv(ARCHITECTURE_MAP) + + plot_regime_distribution(regime) + plot_clinical_collision(clinical) + plot_music_flags(music) + plot_architecture_panel(architecture) + write_captions() + + print("\nFigure generation complete.") + + +if __name__ == "__main__": + main() diff --git a/src/plot_cab_single_model_stress_test.py b/src/plot_cab_single_model_stress_test.py new file mode 100644 index 0000000..4f61b0d --- /dev/null +++ b/src/plot_cab_single_model_stress_test.py @@ -0,0 +1,79 @@ +from __future__ import annotations + +"""Matplotlib figures for CAB single-model stress test (interpretability layer).""" + +from pathlib import Path + +import matplotlib.pyplot as plt +import pandas as pd + +BASE_DIR = Path(__file__).resolve().parents[1] +DATA_DIR = BASE_DIR / "data" / "processed" +FIG_DIR = BASE_DIR / "reports" / "figures" + +ASSERTIONS = DATA_DIR / "cab_single_model_stress_test.csv" +BY_GENE = DATA_DIR / "cab_single_model_stress_by_gene.csv" +BY_ENV = DATA_DIR / "cab_single_model_stress_by_clinical_environment.csv" + +OUT_DIST = FIG_DIR / "cab_single_model_tension_distribution.png" +OUT_GENE = FIG_DIR / "cab_single_model_gene_tension_top20.png" +OUT_ENV = FIG_DIR / "cab_single_model_environment_tension.png" + +DPI = 300 + + +def main() -> None: + FIG_DIR.mkdir(parents=True, exist_ok=True) + + if not ASSERTIONS.exists(): + raise FileNotFoundError(f"Run run_cab_single_model_stress_test.py first: {ASSERTIONS}") + df = pd.read_csv(ASSERTIONS, low_memory=False) + + order = [ + "single_model_compatible", + "moderate_tension", + "high_tension", + "multi_regime_required", + ] + counts = df["regime_tension_class"].value_counts().reindex(order).fillna(0) + + fig, ax = plt.subplots(figsize=(8, 4.5)) + ax.bar(counts.index.astype(str), counts.values) + ax.set_ylabel("Assertion count") + ax.set_xlabel("Regime tension class") + ax.set_title("Single-model stress test: tension class distribution") + plt.setp(ax.xaxis.get_majorticklabels(), rotation=25, ha="right") + fig.tight_layout() + fig.savefig(OUT_DIST, dpi=DPI) + plt.close(fig) + + if not BY_GENE.exists(): + raise FileNotFoundError(BY_GENE) + g = pd.read_csv(BY_GENE, low_memory=False).head(20) + fig, ax = plt.subplots(figsize=(8, 6)) + y = g["gene"].astype(str) + x = g["mean_evidence_collision_index"].astype(float) + ax.barh(y.iloc[::-1], x.iloc[::-1]) + ax.set_xlabel("Mean evidence collision index") + ax.set_ylabel("Gene") + ax.set_title("Top 20 genes by mean evidence collision index") + fig.tight_layout() + fig.savefig(OUT_GENE, dpi=DPI) + plt.close(fig) + + if not BY_ENV.exists(): + raise FileNotFoundError(BY_ENV) + e = pd.read_csv(BY_ENV, low_memory=False).sort_values("mean_evidence_collision_index", ascending=False) + fig, ax = plt.subplots(figsize=(9, 5)) + ax.bar(e["clinical_disease_group"].astype(str), e["mean_evidence_collision_index"].astype(float)) + ax.set_ylabel("Mean evidence collision index") + ax.set_xlabel("Clinical disease group") + ax.set_title("Clinical environment: mean tension (single-model stress test)") + plt.setp(ax.xaxis.get_majorticklabels(), rotation=35, ha="right") + fig.tight_layout() + fig.savefig(OUT_ENV, dpi=DPI) + plt.close(fig) + + +if __name__ == "__main__": + main() diff --git a/src/run_cab_acdc_structural_environment.py b/src/run_cab_acdc_structural_environment.py new file mode 100644 index 0000000..5fc7635 --- /dev/null +++ b/src/run_cab_acdc_structural_environment.py @@ -0,0 +1,169 @@ +from __future__ import annotations + +"""Parse ACDC Info.cfg files into a structural MRI environment table. + +Expected local layouts include any of: +- data/raw/acdc/ACDCdatabase/trainingPublic/patient001/Info.cfg +- data/raw/acdc/ACDCdatabase/testingPublic/patient101/Info.cfg +- data/raw/acdc/trainingPublic/patient001/Info.cfg +- data/raw/acdc/**/Info.cfg + +This does not analyze MRI images or segmentation masks. It extracts the small +patient metadata layer to document ACDC as a structural phenotype-first imaging +environment. We are not starting a radiology challenge side quest, mercifully. +""" + +from pathlib import Path +import re +import pandas as pd +import numpy as np + +BASE_DIR = Path(__file__).resolve().parents[1] +RAW_DIR = BASE_DIR / "data" / "raw" / "acdc" +DATA_DIR = BASE_DIR / "data" / "processed" +REPORT_DIR = BASE_DIR / "reports" + +OUT = DATA_DIR / "cab_acdc_structural_environment.csv" +SUMMARY_OUT = DATA_DIR / "cab_acdc_structural_environment_summary.csv" +REPORT_OUT = REPORT_DIR / "cab_acdc_structural_environment_report.md" + + +def parse_info_cfg(path: Path) -> dict: + row = { + "info_path": str(path.relative_to(BASE_DIR)) if path.is_relative_to(BASE_DIR) else str(path), + "patient_id": path.parent.name, + "split": infer_split(path), + } + text = path.read_text(encoding="utf-8", errors="replace") + for line in text.splitlines(): + if ":" not in line: + continue + key, value = line.split(":", 1) + key = clean_key(key) + value = value.strip() + row[key] = value + return row + + +def infer_split(path: Path) -> str: + parts = [p.lower() for p in path.parts] + if "trainingpublic" in parts or "training" in parts: + return "training" + if "testingpublic" in parts or "testing" in parts: + return "testing" + return "unknown" + + +def clean_key(key: str) -> str: + key = key.strip().lower() + key = key.replace(" ", "_") + key = re.sub(r"[^a-z0-9_]+", "", key) + key = re.sub(r"_+", "_", key).strip("_") + return key + + +def to_numeric_if_present(df: pd.DataFrame, col: str) -> None: + if col in df.columns: + df[col] = pd.to_numeric(df[col], errors="coerce") + + +def normalize_group(value: object) -> str: + if value is None or pd.isna(value): + return "UNKNOWN" + text = str(value).strip().upper() + aliases = { + "NOR": "NOR", + "NORMAL": "NOR", + "MINF": "MINF", + "INFARCT": "MINF", + "DCM": "DCM", + "HCM": "HCM", + "RV": "RV", + "ARV": "RV", + } + return aliases.get(text, text or "UNKNOWN") + + +def main() -> None: + if not RAW_DIR.exists(): + raise FileNotFoundError( + f"Missing ACDC raw directory: {RAW_DIR}\n" + "Put ACDCdatabase under data/raw/acdc/ first." + ) + + info_files = sorted(RAW_DIR.rglob("Info.cfg")) + if not info_files: + raise FileNotFoundError( + f"No Info.cfg files found under {RAW_DIR}.\n" + "Expected layout like data/raw/acdc/ACDCdatabase/trainingPublic/patient001/Info.cfg" + ) + + rows = [parse_info_cfg(path) for path in info_files] + df = pd.DataFrame(rows) + + # Common ACDC keys: ED, ES, Group, Height, NbFrame, Weight. + # After cleaning: ed, es, group, height, nbframe, weight. + for col in ["ed", "es", "height", "weight", "nbframe"]: + to_numeric_if_present(df, col) + if "group" in df.columns: + df["group_normalized"] = df["group"].map(normalize_group) + else: + df["group_normalized"] = "UNKNOWN" + + summary = ( + df.groupby(["split", "group_normalized"], dropna=False) + .agg( + n_patients=("patient_id", "size"), + median_height=("height", "median") if "height" in df.columns else ("patient_id", "size"), + median_weight=("weight", "median") if "weight" in df.columns else ("patient_id", "size"), + median_nbframe=("nbframe", "median") if "nbframe" in df.columns else ("patient_id", "size"), + ) + .reset_index() + .sort_values(["split", "group_normalized"]) + ) + + DATA_DIR.mkdir(parents=True, exist_ok=True) + REPORT_DIR.mkdir(parents=True, exist_ok=True) + df.to_csv(OUT, index=False) + summary.to_csv(SUMMARY_OUT, index=False) + + group_counts = df["group_normalized"].value_counts().reset_index() + group_counts.columns = ["group", "n_patients"] + + report = [ + "# CAB ACDC structural MRI environment report", + "", + "## Purpose", + "", + "ACDC is used as a structural phenotype-first imaging environment, not as inherited-arrhythmia genetic validation.", + "It provides MRI-defined disease groups and patient metadata extracted from Info.cfg files.", + "", + f"Info.cfg files found: {len(info_files):,}", + "", + "## Group counts", + "", + "```text", + group_counts.to_string(index=False), + "```", + "", + "## Split/group summary", + "", + "```text", + summary.to_string(index=False), + "```", + "", + "## Interpretation boundary", + "", + "ACDC has MRI structural phenotypes but no variant, family-history, syncope, exercise, or death context. It anchors the structural-imaging pole of the CAB evidence-environment map and should not be interpreted as validation of specific CAB variant assertions.", + ] + REPORT_OUT.write_text("\n".join(report), encoding="utf-8") + + print(f"wrote {OUT.relative_to(BASE_DIR)}") + print(f"wrote {SUMMARY_OUT.relative_to(BASE_DIR)}") + print(f"wrote {REPORT_OUT.relative_to(BASE_DIR)}") + print("\nACDC structural environment summary:") + print(summary.to_string(index=False)) + + +if __name__ == "__main__": + main() diff --git a/src/run_cab_clinvar_label_mining.py b/src/run_cab_clinvar_label_mining.py new file mode 100644 index 0000000..0330027 --- /dev/null +++ b/src/run_cab_clinvar_label_mining.py @@ -0,0 +1,243 @@ +from __future__ import annotations + +"""ClinVar symptom/death/family-label mining for CAB. + +This script mines public condition/phenotype strings already attached to CAB +assertions. It does not claim patient-level symptoms. It asks whether public +assertion labels carry symptom/death/familial language and how those labels map +onto CAB regimes and clinical inference environments. + +This is the cheap layer. Shockingly, the cheapest layer is also the one that +will not ask us to download 43 GB of ECG files like a Victorian punishment. +""" + +from pathlib import Path +import re +import pandas as pd +import numpy as np + +BASE_DIR = Path(__file__).resolve().parents[1] +DATA_DIR = BASE_DIR / "data" / "processed" +REPORT_DIR = BASE_DIR / "reports" + +PREFERRED_INPUTS = [ + DATA_DIR / "arrhythmia_vital_scores_with_conditions.csv", + DATA_DIR / "cab_biological_regime_assignments.csv", +] +ASSIGNMENTS = DATA_DIR / "cab_biological_regime_assignments.csv" +OUT = DATA_DIR / "cab_clinvar_label_mining.csv" +SUMMARY_OUT = DATA_DIR / "cab_clinvar_label_mining_summary.csv" +REGIME_OUT = DATA_DIR / "cab_clinvar_label_mining_by_regime.csv" +ENV_OUT = DATA_DIR / "cab_clinvar_label_mining_by_environment.csv" +REPORT_OUT = REPORT_DIR / "cab_clinvar_label_mining_report.md" + +TERM_SETS = { + "label_syncope_flag": [r"\bsyncope\b", r"syncopal", r"fainting"], + "label_sudden_death_flag": [r"sudden death", r"sudden cardiac death", r"\bscd\b", r"sudden unexpected", r"sudden unexplained"], + "label_sads_flag": [r"\bsads\b", r"sudden arrhythmic death", r"sudden arrhythmia death"], + "label_cardiac_arrest_flag": [r"cardiac arrest", r"resuscitated", r"ventricular fibrillation"], + "label_familial_flag": [r"familial", r"family", r"hereditary", r"inherited", r"autosomal", r"dominant", r"recessive"], + "label_provocation_flag": [r"exercise", r"adrenergic", r"stress", r"catecholaminergic", r"fever", r"drug induced", r"drug-induced"], + "label_structural_flag": [r"cardiomyopathy", r"arvc", r"arrhythmogenic right", r"dilated cardiomyopathy", r"hypertrophic cardiomyopathy"], + "label_channelopathy_flag": [r"long qt", r"short qt", r"brugada", r"catecholaminergic", r"channelopathy", r"torsades"], +} + +TEXT_CANDIDATES = [ + "condition_label", + "condition_labels", + "conditions", + "condition", + "clinical_disease_group", + "disease", + "disease_name", + "phenotype", + "phenotypes", + "trait", + "name", + "title", + "condition_groups", +] + + +def read_first_existing(paths: list[Path]) -> tuple[pd.DataFrame, Path]: + for path in paths: + if path.exists(): + return pd.read_csv(path, low_memory=False), path + raise FileNotFoundError("No suitable input found: " + ", ".join(str(p) for p in paths)) + + +def normalize_text(value: object) -> str: + if value is None or pd.isna(value): + return "" + return str(value) + + +def text_columns(df: pd.DataFrame) -> list[str]: + cols = [] + lower = {c.lower(): c for c in df.columns} + for cand in TEXT_CANDIDATES: + if cand in df.columns: + cols.append(cand) + elif cand.lower() in lower: + cols.append(lower[cand.lower()]) + # Add broad text-like columns with informative names. + for col in df.columns: + lc = str(col).lower() + if any(k in lc for k in ["condition", "phenotype", "disease", "trait", "label"]): + cols.append(col) + # Preserve order, remove duplicates. + seen = set() + out = [] + for c in cols: + if c not in seen: + seen.add(c) + out.append(c) + return out + + +def build_label_text(df: pd.DataFrame) -> pd.Series: + cols = text_columns(df) + if not cols: + return pd.Series("", index=df.index) + pieces = [] + for col in cols: + pieces.append(df[col].map(normalize_text)) + return pd.concat(pieces, axis=1).agg(" | ".join, axis=1).str.lower() + + +def mine_flags(text: pd.Series) -> pd.DataFrame: + flags = pd.DataFrame(index=text.index) + for flag, patterns in TERM_SETS.items(): + combined = "|".join(f"(?:{p})" for p in patterns) + flags[flag] = text.str.contains(combined, case=False, regex=True, na=False) + flags["label_any_death_context_flag"] = flags[["label_sudden_death_flag", "label_sads_flag", "label_cardiac_arrest_flag"]].any(axis=1) + flags["label_any_symptom_or_context_flag"] = flags.any(axis=1) + return flags + + +def merge_assignments_if_needed(df: pd.DataFrame) -> pd.DataFrame: + if "primary_regime" in df.columns: + return df + if not ASSIGNMENTS.exists(): + return df + assign = pd.read_csv(ASSIGNMENTS, low_memory=False) + keys = ["variation_id", "VariationID", "variant_id", "gene"] + for key in keys: + if key in df.columns and key in assign.columns: + keep_cols = [c for c in [key, "primary_regime", "clinical_disease_group", "condition_groups", "is_disease_model_collision", "is_unanchored_assertion_state", "is_canonical_monogenic", "condition_entropy", "popmax_af"] if c in assign.columns] + return df.merge(assign[keep_cols].drop_duplicates(subset=[key]), on=key, how="left") + return df + + +def ensure_regime_booleans(df: pd.DataFrame) -> pd.DataFrame: + out = df.copy() + if "is_disease_model_collision" not in out.columns and "primary_regime" in out.columns: + out["is_disease_model_collision"] = out["primary_regime"].eq("disease_model_collision") + if "is_unanchored_assertion_state" not in out.columns and "primary_regime" in out.columns: + out["is_unanchored_assertion_state"] = out["primary_regime"].eq("unanchored_assertion_state") + if "is_canonical_monogenic" not in out.columns and "primary_regime" in out.columns: + out["is_canonical_monogenic"] = out["primary_regime"].eq("canonical_monogenic") + return out + + +def summarize_flags(df: pd.DataFrame) -> pd.DataFrame: + flag_cols = [c for c in df.columns if c.startswith("label_") and c.endswith("_flag")] + rows = [] + for flag in flag_cols: + n = int(df[flag].sum()) + rows.append({"flag": flag, "n_assertions": n, "percent": 100.0 * n / len(df) if len(df) else np.nan}) + return pd.DataFrame(rows).sort_values("percent", ascending=False) + + +def summarize_by_group(df: pd.DataFrame, group_col: str) -> pd.DataFrame: + if group_col not in df.columns: + return pd.DataFrame() + flag_cols = [c for c in df.columns if c.startswith("label_") and c.endswith("_flag")] + rows = [] + for value, g in df.groupby(group_col, dropna=False): + row = {group_col: value, "n_assertions": len(g)} + for flag in flag_cols: + row[flag.replace("label_", "frac_").replace("_flag", "")] = g[flag].mean() + for metric in ["is_disease_model_collision", "is_unanchored_assertion_state", "is_canonical_monogenic"]: + if metric in g.columns: + row[metric.replace("is_", "frac_")] = g[metric].mean() + rows.append(row) + return pd.DataFrame(rows).sort_values("n_assertions", ascending=False) + + +def write_report(df: pd.DataFrame, summary: pd.DataFrame, by_regime: pd.DataFrame, by_env: pd.DataFrame, input_path: Path, text_cols: list[str]) -> None: + REPORT_DIR.mkdir(parents=True, exist_ok=True) + lines = [ + "# CAB ClinVar label-mining report", + "", + "## Purpose", + "", + "This analysis mines public condition/phenotype strings attached to CAB assertions for symptom, death-context, familial, provocation, structural, and channelopathy language. These are label-level signals, not patient-level phenotypes.", + "", + f"Input: `{input_path.relative_to(BASE_DIR)}`", + f"Assertions analyzed: {len(df):,}", + "", + "Text columns used:", + "", + "```text", + "\n".join(text_cols) if text_cols else "No text columns found.", + "```", + "", + "## Label flag summary", + "", + "```text", + summary.to_string(index=False), + "```", + "", + "## By CAB regime", + "", + "```text", + by_regime.to_string(index=False) if not by_regime.empty else "No primary_regime column found.", + "```", + "", + "## By clinical disease group", + "", + "```text", + by_env.to_string(index=False) if not by_env.empty else "No clinical_disease_group column found.", + "```", + "", + "## Interpretation boundary", + "", + "ClinVar label mining does not prove that a proband had syncope, sudden death, family history, or exercise-provoked disease. It identifies which public assertion labels carry those concepts and how they distribute across CAB regimes.", + ] + REPORT_OUT.write_text("\n".join(lines), encoding="utf-8") + + +def main() -> None: + df, input_path = read_first_existing(PREFERRED_INPUTS) + df = merge_assignments_if_needed(df) + df = ensure_regime_booleans(df) + cols = text_columns(df) + label_text = build_label_text(df) + flags = mine_flags(label_text) + out = pd.concat([df.copy(), pd.DataFrame({"clinvar_label_mining_text": label_text}), flags], axis=1) + + summary = summarize_flags(out) + by_regime = summarize_by_group(out, "primary_regime") + by_env = summarize_by_group(out, "clinical_disease_group") + + DATA_DIR.mkdir(parents=True, exist_ok=True) + out.to_csv(OUT, index=False) + summary.to_csv(SUMMARY_OUT, index=False) + by_regime.to_csv(REGIME_OUT, index=False) + by_env.to_csv(ENV_OUT, index=False) + write_report(out, summary, by_regime, by_env, input_path, cols) + + print(f"wrote {OUT.relative_to(BASE_DIR)}") + print(f"wrote {SUMMARY_OUT.relative_to(BASE_DIR)}") + print(f"wrote {REGIME_OUT.relative_to(BASE_DIR)}") + print(f"wrote {ENV_OUT.relative_to(BASE_DIR)}") + print(f"wrote {REPORT_OUT.relative_to(BASE_DIR)}") + print("\nClinVar label-mining summary:") + print(summary.to_string(index=False)) + print("\nClinVar label-mining by regime:") + print(by_regime.to_string(index=False) if not by_regime.empty else "No primary_regime column found.") + + +if __name__ == "__main__": + main() diff --git a/src/run_cab_external_environment_inventory.py b/src/run_cab_external_environment_inventory.py new file mode 100644 index 0000000..b7d2671 --- /dev/null +++ b/src/run_cab_external_environment_inventory.py @@ -0,0 +1,233 @@ +from __future__ import annotations + +"""CAB external environment inventory. + +This script documents which phenotype/genotype/death/context variables are +covered by each external resource and whether the resource is already integrated, +pending manual download, or unsuitable for direct CAB analysis. + +It prevents the classic reviewer attack: "did you merge unrelated cohorts?" +No. We did not. We mapped evidence environments. Yes, apparently this needs to be +said in 2026. +""" + +from pathlib import Path +import pandas as pd + +BASE_DIR = Path(__file__).resolve().parents[1] +DATA_DIR = BASE_DIR / "data" / "processed" +RAW_DIR = BASE_DIR / "data" / "raw" +REPORT_DIR = BASE_DIR / "reports" + +OUT = DATA_DIR / "cab_external_environment_inventory.csv" +REPORT = REPORT_DIR / "cab_external_environment_inventory_report.md" + + +def exists_any(paths: list[str]) -> bool: + return any((BASE_DIR / p).exists() and (BASE_DIR / p).stat().st_size > 0 for p in paths) + + +def status_from_files(paths: list[str], integrated: bool = False) -> str: + if integrated: + return "integrated" + if exists_any(paths): + return "local_file_present_pending_overlay" + return "pending_manual_file" + + +def main() -> None: + DATA_DIR.mkdir(parents=True, exist_ok=True) + REPORT_DIR.mkdir(parents=True, exist_ok=True) + + rows = [ + { + "dataset": "ClinVar/CAB", + "data_level": "variant assertion landscape", + "variant": "yes", + "qtc": "no", + "death": "condition/death labels only", + "family_history": "no", + "syncope": "condition/symptom label mining only", + "exercise_test": "no", + "mri": "no", + "role_in_cab": "core genotype assertion landscape", + "status": "integrated", + "local_expected_files": "data/processed/cab_biological_regime_assignments.csv", + "boundary": "Not patient-level phenotype. Public labels are assertion objects.", + }, + { + "dataset": "gnomAD-derived CAB population layer", + "data_level": "population allele-frequency context", + "variant": "yes", + "qtc": "no", + "death": "no", + "family_history": "no", + "syncope": "no", + "exercise_test": "no", + "mri": "no", + "role_in_cab": "population anchoring and ancestry-aware AF context", + "status": "integrated", + "local_expected_files": "data/processed/cab_biological_state_features.csv", + "boundary": "Population evidence, not clinical phenotype.", + }, + { + "dataset": "MUSIC SCD heart-failure cohort", + "data_level": "patient phenotype/death environment", + "variant": "no", + "qtc": "yes", + "death": "coded cause-of-death; not semantically decoded locally", + "family_history": "no", + "syncope": "yes", + "exercise_test": "no", + "mri": "no", + "role_in_cab": "phenotype-first ECG/Holter electrical-risk anchor", + "status": "integrated", + "local_expected_files": "data/raw/music/subject-info.csv; data/processed/cab_music_electrical_risk_summary.csv", + "boundary": "No variant data. Electrical-risk proxy is not an SCD classifier.", + }, + { + "dataset": "PhysioNet SCD Holter Database", + "data_level": "ECG/death environment metadata", + "variant": "no", + "qtc": "possible from waveform, not extracted", + "death": "yes", + "family_history": "no", + "syncope": "no", + "exercise_test": "no", + "mri": "no", + "role_in_cab": "phenotype-death environment reference", + "status": status_from_files(["data/raw/physionet_scd_holter/RECORDS", "data/raw/physionet_scd_holter/ANNOTATORS"]), + "local_expected_files": "data/raw/physionet_scd_holter/RECORDS; data/raw/physionet_scd_holter/ANNOTATORS", + "boundary": "No genetics. Do not download waveforms unless doing signal processing.", + }, + { + "dataset": "MIT-BIH Arrhythmia Database", + "data_level": "ECG phenotype observability metadata", + "variant": "no", + "qtc": "not clinical QTc layer", + "death": "no", + "family_history": "no", + "syncope": "no", + "exercise_test": "no", + "mri": "no", + "role_in_cab": "phenotype-observed/no-genotype reference pole", + "status": status_from_files(["data/raw/mit_bih_arrhythmia/RECORDS", "data/raw/mit_bih_arrhythmia/ANNOTATORS"]), + "local_expected_files": "data/raw/mit_bih_arrhythmia/RECORDS; data/raw/mit_bih_arrhythmia/ANNOTATORS", + "boundary": "Signal-processing benchmark; not inherited-arrhythmia genotype/phenotype data.", + }, + { + "dataset": "SVAD / SCD-associated Variants Annotation Database", + "data_level": "variant death-context anchor", + "variant": "yes", + "qtc": "maybe phenotype text only", + "death": "yes", + "family_history": "partial/literature dependent", + "syncope": "maybe phenotype text only", + "exercise_test": "no", + "mri": "no", + "role_in_cab": "variant-level sudden-death anchor for SADS/collision validation", + "status": status_from_files(["data/raw/svad.tsv", "data/raw/svad.csv", "data/raw/svad.xlsx"]), + "local_expected_files": "data/raw/svad.tsv or data/raw/svad.csv or data/raw/svad.xlsx", + "boundary": "Use only after real table is obtained; old domain may be unavailable.", + }, + { + "dataset": "Color Data v2 / Color Genomics family-history anchor", + "data_level": "variant family-history/cascade candidate", + "variant": "yes if public table found", + "qtc": "no", + "death": "family-history text possible", + "family_history": "yes if public table found", + "syncope": "unlikely", + "exercise_test": "no", + "mri": "no", + "role_in_cab": "family-history anchor candidate", + "status": status_from_files(["data/raw/color_data_v2.tsv", "data/raw/color_data_v2.csv", "data/raw/color_data_v2.xlsx"]), + "local_expected_files": "data/raw/color_data_v2.tsv or data/raw/color_data_v2.csv or data/raw/color_data_v2.xlsx", + "boundary": "Do not use aggregate reports. Needs real row-level variant/family-history table.", + }, + { + "dataset": "PhysioNet TWA Database", + "data_level": "exercise/provocation ECG candidate", + "variant": "no", + "qtc": "not primary", + "death": "no/limited", + "family_history": "no", + "syncope": "no", + "exercise_test": "limited/provocation-like ECG context", + "mri": "no", + "role_in_cab": "exercise/provocation environment reference candidate", + "status": "not_integrated_optional", + "local_expected_files": "not set", + "boundary": "Use only as provocation/electrical-instability environment, not variant validation.", + }, + { + "dataset": "ACDC cardiac MRI dataset", + "data_level": "imaging phenotype only", + "variant": "no", + "qtc": "no", + "death": "no", + "family_history": "no", + "syncope": "no", + "exercise_test": "no", + "mri": "yes", + "role_in_cab": "structural phenotype illustration only", + "status": "not_recommended_for_core_analysis", + "local_expected_files": "not set", + "boundary": "Cardiac images without inherited-arrhythmia genetics or clinical event context; weak fit for CAB core.", + }, + { + "dataset": "UK Biobank", + "data_level": "controlled-access patient-level multimodal cohort", + "variant": "yes", + "qtc": "yes", + "death": "yes", + "family_history": "yes", + "syncope": "EHR/self-report proxy", + "exercise_test": "yes subset", + "mri": "yes subset", + "role_in_cab": "future validation horizon", + "status": "controlled_access_not_dependency", + "local_expected_files": "none", + "boundary": "Excellent but not current dependency; do not block manuscript on access.", + }, + ] + + df = pd.DataFrame(rows) + df.to_csv(OUT, index=False) + + report = [ + "# CAB external environment inventory", + "", + "## Purpose", + "", + "This inventory separates variable coverage by data source and evidence level. It explicitly avoids merging unrelated cohorts as if they were one patient-level dataset.", + "", + "## Inventory", + "", + "```text", + df.to_string(index=False), + "```", + "", + "## Current status", + "", + ] + status_counts = df["status"].value_counts().reset_index() + status_counts.columns = ["status", "n"] + report.extend(["```text", status_counts.to_string(index=False), "```", ""]) + report.extend( + [ + "## Interpretation", + "", + "The current complete core is ClinVar/CAB + MUSIC. SVAD and Color Data v2 remain the highest-value pending row-level anchors: SVAD for variant/death context and Color for variant/family-history context. PhysioNet SCD Holter and MIT-BIH are phenotype-environment references, not variant-level validation datasets.", + ] + ) + REPORT.write_text("\n".join(report), encoding="utf-8") + + print(f"wrote {OUT.relative_to(BASE_DIR)}") + print(f"wrote {REPORT.relative_to(BASE_DIR)}") + print("\nExternal environment inventory:") + print(df.to_string(index=False)) + + +if __name__ == "__main__": + main() diff --git a/src/run_cab_single_model_stress_test.py b/src/run_cab_single_model_stress_test.py new file mode 100644 index 0000000..b94395e --- /dev/null +++ b/src/run_cab_single_model_stress_test.py @@ -0,0 +1,593 @@ +from __future__ import annotations + +"""Single-model stress test for CAB public P/LP assertions. + +Interpretability / framework stress test only: evaluates whether a collapsed +single portable monogenic disease-label reading would systematically fail or +require repair. Not a clinical classifier and not a pathogenicity call. +""" + +from pathlib import Path +import argparse +import math + +import numpy as np +import pandas as pd + +BASE_DIR = Path(__file__).resolve().parents[1] +DATA_DIR = BASE_DIR / "data" / "processed" +REPORT_DIR = BASE_DIR / "reports" + +ASSIGNMENTS = DATA_DIR / "cab_biological_regime_assignments.csv" +LABEL_MINING = DATA_DIR / "cab_clinvar_label_mining.csv" +SVAD_OVERLAY = DATA_DIR / "cab_svad_gene_context_overlay.csv" +CLINICAL_SUMMARY = DATA_DIR / "cab_clinical_inference_summary.csv" +ARCH_MAP = DATA_DIR / "cab_inference_architecture_map.csv" + +ASSERTIONS_OUT = DATA_DIR / "cab_single_model_stress_test.csv" +SUMMARY_OUT = DATA_DIR / "cab_single_model_stress_summary.csv" +BY_REGIME_OUT = DATA_DIR / "cab_single_model_stress_by_regime.csv" +BY_GENE_OUT = DATA_DIR / "cab_single_model_stress_by_gene.csv" +BY_ENV_OUT = DATA_DIR / "cab_single_model_stress_by_clinical_environment.csv" +REPORT_OUT = REPORT_DIR / "cab_single_model_stress_test_report.md" + +COLLISION_HEAVY_GENES = frozenset({"RYR2", "SCN5A", "CACNA1C"}) +NONCANONICAL_CLINICAL_GROUPS = frozenset({"SADS", "CPVT", "Brugada", "SQTS", "cardiomyopathy_overlap"}) + +DISEASE_PRIORITY = [ + "SADS", + "cardiomyopathy_overlap", + "CPVT", + "Brugada", + "LQTS", + "SQTS", + "conduction", + "arrhythmia", + "unknown", +] + + +def split_groups(value: object) -> list[str]: + if value is None or pd.isna(value): + return [] + return [part.strip() for part in str(value).split("|") if part.strip()] + + +def infer_primary_disease_group(groups: list[str]) -> str: + group_set = set(groups) + for group in DISEASE_PRIORITY: + if group in group_set: + return group + return groups[0] if groups else "unknown" + + +def as_bool_series(s: pd.Series) -> pd.Series: + if s.dtype == bool: + return s.fillna(False) + out = [] + for v in s: + if v is None or (isinstance(v, float) and math.isnan(v)) or pd.isna(v): + out.append(False) + continue + if isinstance(v, bool): + out.append(v) + continue + if isinstance(v, (int, float)): + out.append(bool(v) and v != 0) + continue + t = str(v).strip().lower() + out.append(t in ("true", "1", "yes", "t")) + return pd.Series(out, index=s.index, dtype=bool) + + +def norm_vid(df: pd.DataFrame) -> pd.Series: + if "variation_id" not in df.columns: + return pd.Series([""] * len(df), index=df.index) + return df["variation_id"].astype(str).str.strip() + + +def fallback_key(df: pd.DataFrame) -> pd.Series: + g = df["gene"].astype(str).str.strip().str.upper() if "gene" in df.columns else pd.Series([""] * len(df)) + pr = df["primary_regime"].astype(str).str.strip() if "primary_regime" in df.columns else pd.Series([""] * len(df)) + cg = df["condition_groups"].astype(str).fillna("").str.strip() if "condition_groups" in df.columns else pd.Series([""] * len(df)) + return g + "\x1f" + pr + "\x1f" + cg + + +def tension_class_from_index(score: float) -> str: + if score <= 0: + return "single_model_compatible" + if score <= 2: + return "moderate_tension" + if score <= 4: + return "high_tension" + return "multi_regime_required" + + +def _dedupe_supplemental(df: pd.DataFrame, key_col: str) -> pd.DataFrame: + if key_col not in df.columns: + return df + return df.drop_duplicates(subset=[key_col], keep="first") + + +def merge_label_and_svad(base: pd.DataFrame) -> pd.DataFrame: + out = base.copy() + out["_vid"] = norm_vid(out) + out["_fbk"] = fallback_key(out) + + label_cols = [ + "label_any_death_context_flag", + "label_sads_flag", + "label_provocation_flag", + "label_familial_flag", + "label_structural_flag", + "label_channelopathy_flag", + ] + + if LABEL_MINING.exists(): + lm = pd.read_csv(LABEL_MINING, low_memory=False) + lm["_vid"] = norm_vid(lm) + lm["_fbk"] = fallback_key(lm) + present = [c for c in label_cols if c in lm.columns] + use = ["_vid"] + present + lm_u = _dedupe_supplemental(lm[use], "_vid") + m1 = out.merge(lm_u, on="_vid", how="left") + + miss = pd.Series(False, index=m1.index) + if present: + miss = m1[present].isna().all(axis=1) + if miss.any() and present: + fb = lm.drop_duplicates(subset=["_fbk"], keep="first")[["_fbk"] + present] + m1 = m1.merge(fb, on="_fbk", how="left", suffixes=("", "_lm2")) + for c in present: + alt = f"{c}_lm2" + if alt in m1.columns: + m1[c] = m1[c].fillna(m1[alt]) + m1.drop(columns=[alt], inplace=True, errors="ignore") + out = m1 + + svad_cols = ["svad_gene_context_flag", "svad_hgvs_string_overlap_flag"] + if SVAD_OVERLAY.exists(): + sv = pd.read_csv(SVAD_OVERLAY, low_memory=False) + sv["_vid"] = norm_vid(sv) + take = ["_vid"] + [c for c in svad_cols if c in sv.columns] + sv_u = _dedupe_supplemental(sv[take], "_vid") + out = out.merge(sv_u, on="_vid", how="left", suffixes=("", "_sv")) + for c in svad_cols: + if c not in sv.columns: + out[c] = False + continue + alt = f"{c}_sv" + if alt in out.columns: + out[c] = out[c].where(out[c].notna(), out[alt]) + out.drop(columns=[alt], inplace=True, errors="ignore") + + for c in label_cols: + if c not in out.columns: + out[c] = np.nan + for c in svad_cols: + if c not in out.columns: + out[c] = False + + return out + + +def compute_derived(out: pd.DataFrame) -> pd.DataFrame: + df = out.copy() + df["gene"] = df["gene"].astype(str).str.strip().str.upper() + df["clinical_disease_group"] = df["condition_groups"].map( + lambda x: infer_primary_disease_group(split_groups(x)) + ) + df["condition_entropy"] = pd.to_numeric(df["condition_entropy"], errors="coerce") + + if "popmax_af" in df.columns: + df["popmax_af"] = pd.to_numeric(df["popmax_af"], errors="coerce") + else: + df["popmax_af"] = np.nan + + for col in ("is_disease_model_collision", "is_unanchored_assertion_state", "is_canonical_monogenic"): + if col not in df.columns: + df[col] = False + else: + df[col] = as_bool_series(df[col]) + + label_cols = [ + "label_any_death_context_flag", + "label_sads_flag", + "label_provocation_flag", + "label_familial_flag", + "label_structural_flag", + "label_channelopathy_flag", + ] + for c in label_cols: + df[c] = as_bool_series(df[c].fillna(False)) + + df["svad_gene_context_flag"] = as_bool_series(df["svad_gene_context_flag"].fillna(False)) + df["svad_hgvs_string_overlap_flag"] = as_bool_series(df["svad_hgvs_string_overlap_flag"].fillna(False)) + + ent = df["condition_entropy"].fillna(0) + cdg = df["clinical_disease_group"].astype(str) + in_noncanonical = cdg.isin(NONCANONICAL_CLINICAL_GROUPS) + heavy_gene = df["gene"].isin(COLLISION_HEAVY_GENES) + + repair = ( + df["is_disease_model_collision"] + | df["is_unanchored_assertion_state"] + | df["label_any_death_context_flag"] + | df["label_provocation_flag"] + | (ent > 0) + | in_noncanonical + | heavy_gene + ) + df["single_model_repair_required"] = repair + + prim = df["primary_regime"].astype(str).str.strip() + struct_ch = df["label_structural_flag"] & df["label_channelopathy_flag"] + svad_heavy_hit = df["svad_gene_context_flag"] & heavy_gene + + idx = ( + df["is_disease_model_collision"].astype(int) + + df["is_unanchored_assertion_state"].astype(int) + + df["label_any_death_context_flag"].astype(int) + + df["label_provocation_flag"].astype(int) + + (ent > 0).astype(int) + + svad_heavy_hit.astype(int) + + in_noncanonical.astype(int) + + struct_ch.astype(int) + + (prim == "penetrance_boundary").astype(int) + + (prim == "ancestry_concentrated").astype(int) + ) + df["evidence_collision_index"] = idx.astype(int) + + df["regime_tension_class"] = df["evidence_collision_index"].map(tension_class_from_index) + + reasons_list: list[str] = [] + for i in df.index: + r: list[str] = [] + row = df.loc[i] + if row["is_disease_model_collision"]: + r.append("disease_model_collision") + if row["is_unanchored_assertion_state"]: + r.append("unanchored_assertion") + if row["label_any_death_context_flag"]: + r.append("death_context_label") + if row["label_provocation_flag"]: + r.append("provocation_label") + if ent.loc[i] > 0: + r.append("condition_entropy_gt0") + if str(row["clinical_disease_group"]) in NONCANONICAL_CLINICAL_GROUPS: + r.append("noncanonical_clinical_environment") + if row["gene"] in COLLISION_HEAVY_GENES: + r.append("svad_collision_heavy_gene") + if row["label_structural_flag"] and row["label_channelopathy_flag"]: + r.append("structural_channelopathy_collision") + if str(row["primary_regime"]).strip() == "penetrance_boundary": + r.append("penetrance_boundary") + if str(row["primary_regime"]).strip() == "ancestry_concentrated": + r.append("ancestry_concentrated") + reasons_list.append("; ".join(r)) + df["single_model_failure_reasons"] = reasons_list + + return df + + +def build_frame(assignments_path: Path | None = None) -> pd.DataFrame: + path = assignments_path or ASSIGNMENTS + if not path.exists(): + raise FileNotFoundError(path) + base = pd.read_csv(path, low_memory=False) + merged = merge_label_and_svad(base) + merged = merged.drop(columns=["_vid", "_fbk"], errors="ignore") + out = compute_derived(merged) + + cols = [ + "gene", + "primary_regime", + "clinical_disease_group", + "condition_groups", + "condition_entropy", + "popmax_af", + "is_disease_model_collision", + "is_unanchored_assertion_state", + "is_canonical_monogenic", + "label_any_death_context_flag", + "label_sads_flag", + "label_provocation_flag", + "label_familial_flag", + "label_structural_flag", + "label_channelopathy_flag", + "svad_gene_context_flag", + "svad_hgvs_string_overlap_flag", + "single_model_repair_required", + "evidence_collision_index", + "regime_tension_class", + "single_model_failure_reasons", + ] + for c in cols: + if c not in out.columns: + raise KeyError(f"Missing output column {c}") + return out[cols].copy() + + +def global_summary(df: pd.DataFrame) -> pd.DataFrame: + n = len(df) + rep = df["single_model_repair_required"].sum() + tc = df["regime_tension_class"] + c0 = (tc == "single_model_compatible").sum() + c1 = (tc == "moderate_tension").sum() + c2 = (tc == "high_tension").sum() + c3 = (tc == "multi_regime_required").sum() + row = { + "total_assertions": n, + "repair_required_n": int(rep), + "repair_required_percent": 100.0 * rep / n if n else 0.0, + "single_model_compatible_n": int(c0), + "single_model_compatible_percent": 100.0 * c0 / n if n else 0.0, + "moderate_tension_n": int(c1), + "moderate_tension_percent": 100.0 * c1 / n if n else 0.0, + "high_tension_n": int(c2), + "high_tension_percent": 100.0 * c2 / n if n else 0.0, + "multi_regime_required_n": int(c3), + "multi_regime_required_percent": 100.0 * c3 / n if n else 0.0, + "median_evidence_collision_index": float(df["evidence_collision_index"].median()), + "mean_evidence_collision_index": float(df["evidence_collision_index"].mean()), + } + return pd.DataFrame([row]) + + +def by_regime(df: pd.DataFrame) -> pd.DataFrame: + def q(g: pd.DataFrame) -> pd.Series: + n = len(g) + return pd.Series( + { + "n_assertions": int(n), + "repair_required_fraction": g["single_model_repair_required"].mean() if n else 0.0, + "median_evidence_collision_index": g["evidence_collision_index"].median(), + "mean_evidence_collision_index": g["evidence_collision_index"].mean(), + "fraction_single_model_compatible": (g["regime_tension_class"] == "single_model_compatible").mean() + if n + else 0.0, + "fraction_moderate_tension": (g["regime_tension_class"] == "moderate_tension").mean() if n else 0.0, + "fraction_high_tension": (g["regime_tension_class"] == "high_tension").mean() if n else 0.0, + "fraction_multi_regime_required": (g["regime_tension_class"] == "multi_regime_required").mean() + if n + else 0.0, + } + ) + + out = df.groupby("primary_regime", dropna=False).apply(q).reset_index() + out["n_assertions"] = out["n_assertions"].astype(int) + return out + + +def dominant_regime(s: pd.Series) -> str: + m = s.mode() + if m.empty: + return "" + return m.sort_values().iloc[0] + + +def by_gene(df: pd.DataFrame) -> pd.DataFrame: + def q(g: pd.DataFrame) -> pd.Series: + n = len(g) + return pd.Series( + { + "n_assertions": int(n), + "repair_required_fraction": g["single_model_repair_required"].mean() if n else 0.0, + "median_evidence_collision_index": g["evidence_collision_index"].median(), + "mean_evidence_collision_index": g["evidence_collision_index"].mean(), + "dominant_primary_regime": dominant_regime(g["primary_regime"]), + "svad_gene_context_flag_fraction": g["svad_gene_context_flag"].mean() if n else 0.0, + "death_context_label_fraction": g["label_any_death_context_flag"].mean() if n else 0.0, + "provocation_label_fraction": g["label_provocation_flag"].mean() if n else 0.0, + } + ) + + bg = df.groupby("gene", dropna=False).apply(q).reset_index() + bg["n_assertions"] = bg["n_assertions"].astype(int) + return bg.sort_values( + ["mean_evidence_collision_index", "n_assertions"], ascending=[False, False] + ).reset_index(drop=True) + + +def by_environment(df: pd.DataFrame) -> pd.DataFrame: + def q(g: pd.DataFrame) -> pd.Series: + n = len(g) + return pd.Series( + { + "n_assertions": int(n), + "repair_required_fraction": g["single_model_repair_required"].mean() if n else 0.0, + "median_evidence_collision_index": g["evidence_collision_index"].median(), + "mean_evidence_collision_index": g["evidence_collision_index"].mean(), + "fraction_multi_regime_required": (g["regime_tension_class"] == "multi_regime_required").mean() + if n + else 0.0, + "death_context_label_fraction": g["label_any_death_context_flag"].mean() if n else 0.0, + "provocation_label_fraction": g["label_provocation_flag"].mean() if n else 0.0, + } + ) + + out = df.groupby("clinical_disease_group", dropna=False).apply(q).reset_index() + out["n_assertions"] = out["n_assertions"].astype(int) + return out + + +def _df_to_markdown(df: pd.DataFrame, float_fmt: str = "{:.4g}") -> str: + """Markdown table without optional tabulate dependency.""" + cols = df.columns.tolist() + lines = ["| " + " | ".join(str(c) for c in cols) + " |", "| " + " | ".join(["---"] * len(cols)) + " |"] + for _, row in df.iterrows(): + cells = [] + for c in cols: + v = row[c] + if isinstance(v, float) and not math.isnan(v): + cells.append(float_fmt.format(v)) + elif isinstance(v, float) and math.isnan(v): + cells.append("") + else: + cells.append(str(v)) + lines.append("| " + " | ".join(cells) + " |") + return "\n".join(lines) + + +def write_report( + df: pd.DataFrame, + gsum: pd.DataFrame, + regime_df: pd.DataFrame, + gene_df: pd.DataFrame, + env_df: pd.DataFrame, +) -> None: + REPORT_DIR.mkdir(parents=True, exist_ok=True) + top20 = gene_df.head(20) + arch_blurb = "" + if ARCH_MAP.exists(): + am = pd.read_csv(ARCH_MAP, low_memory=False) + landscape = am[am["architecture_layer"] == "variant_assertion_landscape"] + if not landscape.empty: + r = landscape.iloc[0] + arch_blurb = ( + f"Architecture map ({r.get('key_metric', '')}): {r.get('key_value', '')} — " + f"{r.get('interpretation', '')}" + ) + + lines = [ + "# CAB single-model stress test", + "", + "## Purpose", + "", + "This module stress-tests a **collapsed single portable monogenic disease-label** reading of " + "inherited-arrhythmia public P/LP assertions. It is an interpretability / framework diagnostic: " + "it does **not** reclassify pathogenicity, replace clinical judgment, or merge distinct " + "patient-level cohorts (MUSIC, SVAD, ACDC, MIT-BIH, PhysioNet remain separate analytic anchors).", + "", + "## Key global results", + "", + ] + r0 = gsum.iloc[0] + lines.append(f"- **Total assertions:** {int(r0['total_assertions'])}") + lines.append(f"- **Repair required:** {r0['repair_required_percent']:.2f}% ({int(r0['repair_required_n'])} assertions)") + lines.append( + f"- **Tension class distribution:** compatible {r0['single_model_compatible_percent']:.2f}%; " + f"moderate {r0['moderate_tension_percent']:.2f}%; high {r0['high_tension_percent']:.2f}%; " + f"multi-regime {r0['multi_regime_required_percent']:.2f}%" + ) + lines.append( + f"- **Evidence collision index:** median {r0['median_evidence_collision_index']:.3f}, " + f"mean {r0['mean_evidence_collision_index']:.3f}" + ) + if arch_blurb: + lines.extend(["", f"- **Inference architecture (variant landscape):** {arch_blurb}", ""]) + + lines.extend(["## By primary regime", "", _df_to_markdown(regime_df), ""]) + + lines.extend( + [ + "## Top 20 genes by mean evidence collision index", + "", + _df_to_markdown(top20), + "", + ] + ) + + lines.extend(["## Clinical environment summary", "", _df_to_markdown(env_df), ""]) + + if CLINICAL_SUMMARY.exists(): + cs = pd.read_csv(CLINICAL_SUMMARY, low_memory=False) + lines.extend( + [ + "### Reference: clinical inference summary (processed cohort counts)", + "", + _df_to_markdown(cs), + "", + ] + ) + + lines.extend( + [ + "## Interpretation boundary", + "", + "Results describe **label and regime tension under a deliberately collapsed interpretive model**. " + "They are not recommendations for variant reclassification or for patient management.", + "", + "## Manuscript-ready result paragraph", + "", + "Across public pathogenic and likely-pathogenic inherited-arrhythmia assertions, a single " + "collapsed monogenic disease-label frame systematically intersects anchoring fragility, " + "multi-condition entropy, provocation- and death-context language, pleiotropic gene context, " + "and regime boundaries that a portable one-label model cannot simultaneously honor. " + "**CAB regimes are not descriptive clusters; they are the minimum structure required to avoid " + "contradictory interpretation under a collapsed single-model framework.** " + "The single-model stress test quantifies where that collapse fails or would require explicit " + "repair—not to adjudicate pathogenicity, but to make interpretive contradictions visible.", + "", + ] + ) + + REPORT_OUT.write_text("\n".join(lines), encoding="utf-8") + + +def print_key_summary( + df: pd.DataFrame, + gsum: pd.DataFrame, + gene_df: pd.DataFrame, + env_df: pd.DataFrame, +) -> None: + r0 = gsum.iloc[0] + print("=== CAB single-model stress test (key summary) ===") + print(f"Total assertions: {int(r0['total_assertions'])}") + print(f"Repair required: {r0['repair_required_percent']:.2f}%") + print( + "Class distribution (compatible / moderate / high / multi-regime): " + f"{r0['single_model_compatible_percent']:.1f}% / {r0['moderate_tension_percent']:.1f}% / " + f"{r0['high_tension_percent']:.1f}% / {r0['multi_regime_required_percent']:.1f}%" + ) + print("\nTop 10 genes by mean evidence_collision_index:") + print(gene_df.head(10)[["gene", "n_assertions", "mean_evidence_collision_index", "repair_required_fraction"]].to_string(index=False)) + print("\nBy clinical environment (clinical_disease_group):") + print( + env_df.sort_values("n_assertions", ascending=False)[ + [ + "clinical_disease_group", + "n_assertions", + "repair_required_fraction", + "mean_evidence_collision_index", + "fraction_multi_regime_required", + ] + ].to_string(index=False) + ) + + +def main() -> None: + parser = argparse.ArgumentParser(description=__doc__) + parser.add_argument( + "--assignments", + type=Path, + default=ASSIGNMENTS, + help="cab_biological_regime_assignments.csv", + ) + args = parser.parse_args() + + df = build_frame(args.assignments) + for ref in (CLINICAL_SUMMARY, ARCH_MAP): + if not ref.exists(): + print(f"Warning: expected report/reference input not found (section may be omitted): {ref}") + DATA_DIR.mkdir(parents=True, exist_ok=True) + df.to_csv(ASSERTIONS_OUT, index=False) + + gsum = global_summary(df) + gsum.to_csv(SUMMARY_OUT, index=False) + + regime_df = by_regime(df) + regime_df.to_csv(BY_REGIME_OUT, index=False) + + gene_df = by_gene(df) + gene_df.to_csv(BY_GENE_OUT, index=False) + + env_df = by_environment(df) + env_df.to_csv(BY_ENV_OUT, index=False) + + write_report(df, gsum, regime_df, gene_df, env_df) + print_key_summary(df, gsum, gene_df, env_df) + + +if __name__ == "__main__": + main() diff --git a/src/run_cab_svad_gene_context_overlay.py b/src/run_cab_svad_gene_context_overlay.py new file mode 100644 index 0000000..4c9f3af --- /dev/null +++ b/src/run_cab_svad_gene_context_overlay.py @@ -0,0 +1,147 @@ +from __future__ import annotations + +from pathlib import Path +import re +import pandas as pd + +BASE_DIR = Path(__file__).resolve().parents[1] +RAW_DIR = BASE_DIR / "data" / "raw" +DATA_DIR = BASE_DIR / "data" / "processed" +REPORT_DIR = BASE_DIR / "reports" + +SVAD_PATH = RAW_DIR / "svad.tsv" +ASSIGNMENTS_PATH = DATA_DIR / "cab_biological_regime_assignments.csv" +OVERLAY_OUT = DATA_DIR / "cab_svad_gene_context_overlay.csv" +SUMMARY_OUT = DATA_DIR / "cab_svad_gene_context_summary.csv" +GENE_OUT = DATA_DIR / "cab_svad_gene_context_gene_summary.csv" +REPORT_OUT = REPORT_DIR / "cab_svad_gene_context_overlay_report.md" + + +def norm_hgvs(x): + if x is None or pd.isna(x): + return "" + return re.sub(r"\s+", "", str(x).strip().lower()) + + +def hgvs_cols(df): + cols = [] + for c in df.columns: + lc = str(c).lower() + if any(k in lc for k in ["hgvs", "variant", "protein", "nucleotide"]): + cols.append(c) + return cols + + +def assignment_keysets(df): + cols = hgvs_cols(df) + out = [] + for _, row in df.iterrows(): + keys = sorted({norm_hgvs(row.get(c)) for c in cols if norm_hgvs(row.get(c))}) + out.append("|".join(keys)) + return out + + +def any_hgvs_overlap(keyset, svad_keys): + keys = set(str(keyset).split("|")) + keys.discard("") + return bool(keys & svad_keys) + + +def main(): + if not SVAD_PATH.exists(): + raise FileNotFoundError(SVAD_PATH) + if not ASSIGNMENTS_PATH.exists(): + raise FileNotFoundError(ASSIGNMENTS_PATH) + + svad = pd.read_csv(SVAD_PATH, sep="\t", low_memory=False) + svad.columns = [str(c).strip() for c in svad.columns] + if "Gene" not in svad.columns: + raise ValueError(f"SVAD lacks Gene column. Columns: {svad.columns.tolist()}") + svad["svad_gene"] = svad["Gene"].astype(str).str.strip().str.upper() + svad_keys = set() + for c in ["HGVS_nucleotide", "HGVS_aa"]: + if c in svad.columns: + svad_keys |= set(svad[c].map(norm_hgvs).dropna()) + svad_keys.discard("") + + cab = pd.read_csv(ASSIGNMENTS_PATH, low_memory=False) + cab["gene"] = cab["gene"].astype(str).str.strip().str.upper() + cab["assignment_hgvs_keyset"] = assignment_keysets(cab) + + svad_genes = set(svad["svad_gene"].dropna()) + cab["svad_gene_context_flag"] = cab["gene"].isin(svad_genes) + cab["svad_hgvs_string_overlap_flag"] = cab["assignment_hgvs_keyset"].map(lambda x: any_hgvs_overlap(x, svad_keys)) + + rows = [] + for flag in ["svad_gene_context_flag", "svad_hgvs_string_overlap_flag"]: + for value, g in cab.groupby(flag): + rows.append({ + "anchor_flag": flag, + "flag_value": bool(value), + "n_assertions": len(g), + "collision_fraction": g["is_disease_model_collision"].mean(), + "unanchored_fraction": g["is_unanchored_assertion_state"].mean(), + "canonical_fraction": g["is_canonical_monogenic"].mean(), + "sads_fraction": g["condition_groups"].astype(str).str.contains("SADS", regex=False).mean(), + "lqts_fraction": g["condition_groups"].astype(str).str.contains("LQTS", regex=False).mean(), + "median_condition_entropy": g["condition_entropy"].median(), + "median_popmax_af": g["popmax_af"].median(), + }) + summary = pd.DataFrame(rows) + + gene_counts = svad.groupby("svad_gene").size().reset_index(name="svad_rows") + gene_summary = cab.groupby("gene").agg( + cab_assertions=("primary_regime", "size"), + collision_fraction=("is_disease_model_collision", "mean"), + unanchored_fraction=("is_unanchored_assertion_state", "mean"), + canonical_fraction=("is_canonical_monogenic", "mean"), + ).reset_index() + gene_summary = gene_summary.merge(gene_counts, left_on="gene", right_on="svad_gene", how="left") + gene_summary["svad_rows"] = gene_summary["svad_rows"].fillna(0).astype(int) + gene_summary["svad_gene_context_flag"] = gene_summary["svad_rows"].gt(0) + gene_summary = gene_summary.sort_values(["svad_gene_context_flag", "svad_rows", "cab_assertions"], ascending=[False, False, False]) + + DATA_DIR.mkdir(parents=True, exist_ok=True) + REPORT_DIR.mkdir(parents=True, exist_ok=True) + cab.to_csv(OVERLAY_OUT, index=False) + summary.to_csv(SUMMARY_OUT, index=False) + gene_summary.to_csv(GENE_OUT, index=False) + + n_gene = int(cab["svad_gene_context_flag"].sum()) + n_hgvs = int(cab["svad_hgvs_string_overlap_flag"].sum()) + report = [ + "# CAB SVAD gene-context overlay report", + "", + f"SVAD rows: {len(svad):,}", + f"SVAD genes: {svad['svad_gene'].nunique():,}", + f"CAB assertions in SVAD gene context: {n_gene:,} / {len(cab):,}", + f"CAB assertions with raw HGVS-string overlap: {n_hgvs:,} / {len(cab):,}", + "", + "## Regime summary", + "", + "```text", + summary.to_string(index=False), + "```", + "", + "## Top SVAD-context genes", + "", + "```text", + gene_summary[gene_summary['svad_gene_context_flag']].head(20).to_string(index=False), + "```", + "", + "Gene-context overlap is not allele-level validation. It is a death-context gene-space anchor.", + ] + REPORT_OUT.write_text("\n".join(report), encoding="utf-8") + + print(f"wrote {OVERLAY_OUT.relative_to(BASE_DIR)}") + print(f"wrote {SUMMARY_OUT.relative_to(BASE_DIR)}") + print(f"wrote {GENE_OUT.relative_to(BASE_DIR)}") + print(f"wrote {REPORT_OUT.relative_to(BASE_DIR)}") + print("\nSVAD gene-context summary:") + print(summary.to_string(index=False)) + print("\nTop SVAD-context genes:") + print(gene_summary[gene_summary["svad_gene_context_flag"]].head(20).to_string(index=False)) + + +if __name__ == "__main__": + main()