ANK2 — 4083 ClinVar variants

All ClinVar germline ANK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1512 flagged for review →

44 Pathogenic · 4 Pathogenic/Likely pathogenic · 43 Likely pathogenic · 336 Conflicting · 138 Benign · 119 Benign/Likely benign · 1242 Likely benign · 2157 Uncertain significance

Full ANK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1512

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 7

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

ANK2 p.Cys1616Arg Likely pathogenic Single submitter
ANK2 p.Pro2615His Likely pathogenic Single submitter
ANK2 p.Ser2250Leu Likely pathogenic Single submitter
Brugada syndrome
ANK2 p.Ser3713Ala Likely pathogenic Single submitter
cardiac arrhythmia, ankyrin-B-related
ANK2 p.Ile2050Thr Likely pathogenic No assertion criteria
long QT syndrome
ANK2 p.Lys1626Glu Likely pathogenic No assertion criteria
long QT syndrome
ANK2 p.Val2708Ala Likely pathogenic No assertion criteria
long QT syndrome

Predictors agree, ClinVar conflicts 195

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 195

ANK2 p.Ala1519Ser Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ala1540Ser Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ala1540Val Conflicting Single submitter
long QT syndrome
ANK2 p.Ala1744Asp Conflicting Single submitter
long QT syndrome
ANK2 p.Ala1819Val Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ala1837Thr Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ala1954Ser Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ala2211Val Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ala2336Thr Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ala2381Asp Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ala2948Gly Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ala3339Val Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ala3373Thr Conflicting Single submitter
ANK2-related disorder
ANK2 p.Ala3373Val Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ala3380Thr Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ala3383Thr Conflicting Single submitter
cardiac arrhythmia, ankyrin-B-related
ANK2 p.Ala3432Asp Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ala393Thr Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Arg1604Lys Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Arg1776Gln Conflicting Single submitter
long QT syndrome
ANK2 p.Arg2040Thr Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Arg2069Cys Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Arg2154Cys Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Arg2292Gln Conflicting Single submitter
long QT syndrome
ANK2 p.Arg2354His Conflicting Single submitter
long QT syndrome
ANK2 p.Arg2466Cys Conflicting Single submitter
long QT syndrome
ANK2 p.Arg2581Lys Conflicting Single submitter
cardiac arrhythmia, ankyrin-B-related
ANK2 p.Arg2747Cys Conflicting Single submitter
long QT syndrome
ANK2 p.Arg3602Gln Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Arg3659His Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Arg3659Leu Conflicting Single submitter
ANK2-related disorder
ANK2 p.Arg379Leu Conflicting Single submitter
long QT syndrome
ANK2 p.Asn1563His Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Asn1638Asp Conflicting Single submitter
long QT syndrome
ANK2 p.Asn3294His Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Asn687Ser Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Asp2299Val Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Asp2325His Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Asp2326Gly Conflicting Single submitter
cardiac arrhythmia, ankyrin-B-related
ANK2 p.Asp2799Asn Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Asp2800Glu Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Asp2802His Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Asp2821Glu Conflicting Single submitter
long QT syndrome
ANK2 p.Asp3081Val Conflicting Single submitter
long QT syndrome
ANK2 p.Asp3176Tyr Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Asp3177His Conflicting Single submitter
long QT syndrome
ANK2 p.Asp3275Glu Conflicting Single submitter
long QT syndrome
ANK2 p.Asp3707Asn Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Asp3853Asn Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Asp3865Gly Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Asp720Glu Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Cys1647Tyr Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Cys2777Phe Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Cys3687Ser Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Gln2048Arg Conflicting Single submitter
cardiac arrhythmia, ankyrin-B-related
ANK2 p.Gln2048Glu Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Gln2672Pro Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Gln2794Arg Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Gln3281Arg Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Gln3281Glu Conflicting Single submitter
long QT syndrome
ANK2 p.Gln3785Arg Conflicting Single submitter
ANK2-related disorder
ANK2 p.Glu2109Lys Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Glu2278Ala Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Glu2371Lys Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Glu2378Lys Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Glu2410Gln Conflicting Single submitter
long QT syndrome
ANK2 p.Glu2706Gln Conflicting Single submitter
long QT syndrome
ANK2 p.Glu2755Lys Conflicting Single submitter
long QT syndrome
ANK2 p.Glu2884Gly Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Glu3016Lys Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Glu3704Lys Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Glu3767Val Conflicting Single submitter
cardiac arrhythmia, ankyrin-B-related
ANK2 p.Gly1943Arg Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Gly2196Ser Conflicting Single submitter
long QT syndrome
ANK2 p.Gly2577Arg Conflicting Single submitter
cardiac arrhythmia, ankyrin-B-related
ANK2 p.Gly2648Arg Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Gly2816Asp Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Gly2990Ser Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.His1337Gln Conflicting Single submitter
long QT syndrome
ANK2 p.His2361Arg Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.His2486Gln Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.His2639Asp Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.His2775Arg Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.His3526Gln Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ile2073Thr Conflicting Single submitter
long QT syndrome
ANK2 p.Ile2073Val Conflicting Single submitter
long QT syndrome
ANK2 p.Ile2285Thr Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ile2964Met Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ile3501Met Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ile3543Val Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ile3888Val Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ile777Val Conflicting Single submitter
long QT syndrome
ANK2 p.Leu1833Phe Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Leu2681Val Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Leu2793Pro Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Leu3354Val Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Leu558Ser Conflicting Single submitter
cardiac arrhythmia, ankyrin-B-related
ANK2 p.Leu936Val Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Lys1407Arg Conflicting Single submitter
long QT syndrome
ANK2 p.Lys1661Glu Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Lys1677Asn Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Lys1909Arg Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Lys2076Asn Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Lys2362Glu Conflicting Single submitter
ANK2-related disorder
ANK2 p.Lys2390Gln Conflicting Single submitter
long QT syndrome
ANK2 p.Lys2390Met Conflicting Single submitter
cardiac arrhythmia, ankyrin-B-related
ANK2 p.Lys2479Arg Conflicting Single submitter
long QT syndrome
ANK2 p.Lys2737Gln Conflicting Single submitter
long QT syndrome
ANK2 p.Lys3938Arg Conflicting Single submitter
long QT syndrome
ANK2 p.Met2699Ile Conflicting Single submitter
long QT syndrome
ANK2 p.Met2722Ile Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Met2906Val Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Met3019Leu Conflicting Single submitter
long QT syndrome
ANK2 p.Met3019Val Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Met3649Val Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Phe2883Val Conflicting Single submitter
long QT syndrome
ANK2 p.Pro1545Thr Conflicting Single submitter
long QT syndrome
ANK2 p.Pro1811Ser Conflicting Single submitter
long QT syndrome
ANK2 p.Pro1811Thr Conflicting Single submitter
long QT syndrome
ANK2 p.Pro1825Ser Conflicting Single submitter
long QT syndrome
ANK2 p.Pro2035Leu Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Pro2057Leu Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Pro2316Ser Conflicting Single submitter
long QT syndrome
ANK2 p.Pro2383Arg Conflicting Single submitter
long QT syndrome
ANK2 p.Pro2383Leu Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Pro2385Ser Conflicting Single submitter
long QT syndrome
ANK2 p.Pro2796Leu Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Pro2805Leu Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Pro2851Leu Conflicting Single submitter
long QT syndrome
ANK2 p.Pro2887Ser Conflicting Single submitter
cardiac arrhythmia, ankyrin-B-related
ANK2 p.Pro2967Ala Conflicting Single submitter
Brugada syndrome
ANK2 p.Pro3235Leu Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Pro3235Ser Conflicting Single submitter
long QT syndrome
ANK2 p.Pro3562Leu Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Pro3824Ala Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Pro3841Leu Conflicting Single submitter
long QT syndrome
ANK2 p.Ser1172Asn Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ser1870Leu Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ser1917Leu Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ser19Asn Conflicting Single submitter
long QT syndrome
ANK2 p.Ser2471Asn Conflicting Single submitter
long QT syndrome
ANK2 p.Ser2623Cys Conflicting Single submitter
long QT syndrome
ANK2 p.Ser2655Leu Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ser2715Phe Conflicting Single submitter
cardiac arrhythmia, ankyrin-B-related
ANK2 p.Ser2739Cys Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Ser2938Pro Conflicting Single submitter
long QT syndrome
ANK2 p.Ser2976Cys Conflicting Single submitter
long QT syndrome
ANK2 p.Ser3323Gly Conflicting Single submitter
long QT syndrome
ANK2 p.Ser3331Pro Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Thr1420Met Conflicting Single submitter
Cardiovascular phenotype

Predicted LoF vs a conflicting call 6

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

ANK2 c.11859+2T>G Conflicting Single submitter
ANK2-related disorder
ANK2 p.Arg1305Ter Conflicting Single submitter
neurodevelopmental disorder
ANK2 p.Arg2511Ter Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Arg3642Ter Conflicting Single submitter
Inborn genetic diseases
ANK2 p.Arg982Ter Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Arg990Ter Conflicting Single submitter
ANK2-related disorder

Predictors lean, ClinVar uncertain 1198

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1198

ANK2 p.Ala1152Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Ala1255Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Ala1540Pro Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Ala1744Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Ala178Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Ala178Val Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Ala1869Val Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Ala2062Gly Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Ala209Ser Uncertain significance Multiple submitters
Brugada syndrome
ANK2 p.Ala2347Thr Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Ala2348Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Ala2387Ser Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Ala2430Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Ala2754Val Uncertain significance Multiple submitters
complex neurodevelopmental disorder
ANK2 p.Ala2914Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Ala306Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Ala3251Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Ala3394Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Ala3432Ser Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Ala373Val Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Ala3852Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Ala38Val Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Ala393Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Ala455Asp Uncertain significance Multiple submitters
cardiac arrhythmia, ankyrin-B-related
ANK2 p.Ala492Thr Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Ala504Val Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Ala555Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Ala570Thr Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Ala589Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Ala703Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Ala735Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Ala789Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Ala93Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Arg1193Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Arg1305Gln Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Arg1673Gly Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Arg1784Gln Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Arg1913Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Arg1936Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Arg2106Gly Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Arg2154His Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Arg2274Cys Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Arg2416Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Arg2416Gly Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Arg2688Gln Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Arg3113Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Arg3122Thr Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Arg3408Gln Uncertain significance Multiple submitters
cardiac arrhythmia, ankyrin-B-related
ANK2 p.Arg3418Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Arg3549Cys Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Arg3842Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Arg388Lys Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Arg586Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Arg895Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Arg942Ser Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Arg946His Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Arg990Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Asn122Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Asn2047Lys Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Asn2702Ile Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Asn2702Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Asn392Tyr Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Asn3955Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Asp1125His Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Asp1133Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Asp1352Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Asp1946Asn Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Asp2185Gly Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Asp2199His Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Asp2299His Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Asp2512Val Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Asp2572Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Asp2756Tyr Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Asp2907Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Asp2921Glu Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Asp3197Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Asp3246Asn Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Asp3340Glu Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Asp3592Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Asp3644Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Asp3863Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Asp3863Tyr Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Asp3873Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Asp923Val Uncertain significance Multiple submitters
cardiac arrhythmia, ankyrin-B-related
ANK2 p.Cys1666Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Cys2568Tyr Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Cys2839Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Cys2890Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Cys3244Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Cys3687Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Gln1308Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Gln1465Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Gln1688Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Gln1712His Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Gln1712Lys Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Gln2407His Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Gln2607Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Gln2672His Uncertain significance Multiple submitters
ANK2-associated Complex Neurodevelopmental Disorder
ANK2 p.Gln2872Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Gln3369Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Gln476Arg Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Gln782Arg Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Glu1362Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Glu1433Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Glu1618Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Glu1630Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Glu1653Asp Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Glu1934Gly Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Glu1986Gly Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Glu2107Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Glu2118Lys Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Glu2368Lys Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Glu2644Asp Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Glu2669Val Uncertain significance Multiple submitters
cardiac arrhythmia, ankyrin-B-related
ANK2 p.Glu2728Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Glu2969Gly Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Glu2989Gln Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Glu3062Gly Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Glu3137Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Glu3160Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Glu3422Lys Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Glu3430Gln Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Glu3702Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Glu3771Asp Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Glu3800Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Glu3800Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Glu3834Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Glu3837Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Glu3950Lys Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Gly1211Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Gly1530Ala Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Gly1718Val Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Gly2034Arg Uncertain significance Multiple submitters
cardiac arrhythmia, ankyrin-B-related
ANK2 p.Gly2209Glu Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Gly2293Val Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Gly2676Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Gly2792Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Gly3238Cys Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Gly475Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Gly487Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Gly530Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Gly53Ala Uncertain significance Multiple submitters
cardiac arrhythmia, ankyrin-B-related
ANK2 p.Gly54Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Gly673Val Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Gly739Ala Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.His1830Arg Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.His1948Gln Uncertain significance Multiple submitters
cardiac arrhythmia, ankyrin-B-related
ANK2 p.His2449Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.His2950Tyr Uncertain significance Multiple submitters
cardiac arrhythmia, ankyrin-B-related
ANK2 p.His3579Asp Uncertain significance Multiple submitters
long QT syndrome

Predictors split 106

The independent predictors disagree with each other — read with care.

ANK2 p.Ala1214Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Ala3628Ser Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Ala41Thr Uncertain significance Multiple submitters
ANK2-related disorder
ANK2 p.Ala525Val Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Ala799Val Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Arg3942His Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Asn795Thr Uncertain significance Multiple submitters
complex neurodevelopmental disorder
ANK2 p.Asp3726Val Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Glu3650Gln Uncertain significance Multiple submitters
cardiac arrhythmia, ankyrin-B-related
ANK2 p.Glu3666Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Gly3135Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Gly3871Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Gly685Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.His3614Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Leu3069Val Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Leu936Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Lys1208Met Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Lys1208Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Lys3345Met Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Met3649Ile Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Phe1313Leu Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Phe1386Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Phe2249Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Ser3046Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Val3071Gly Uncertain significance Multiple submitters
long QT syndrome
ANK2 p.Val3444Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Val3899Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
ANK2 p.Ala1198Ser Uncertain significance Single submitter
long QT syndrome
ANK2 p.Ala438Ser Uncertain significance Single submitter
long QT syndrome
ANK2 p.Arg1343Lys Uncertain significance Single submitter
ANK2 p.Arg1438Gly Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Arg1554Ser Uncertain significance Single submitter
long QT syndrome
ANK2 p.Arg3549His Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Arg3906Trp Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Arg495Ser Uncertain significance Single submitter
long QT syndrome
ANK2 p.Asn1286Lys Uncertain significance Single submitter
long QT syndrome
ANK2 p.Asn129Lys Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Asn331Lys Uncertain significance Single submitter
long QT syndrome
ANK2 p.Asn453Lys Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Asn529Asp Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Asn760Lys Uncertain significance Single submitter
long QT syndrome
ANK2 p.Asn987Asp Uncertain significance Single submitter
long QT syndrome
ANK2 p.Asp1513Gly Uncertain significance Single submitter
long QT syndrome
ANK2 p.Asp3041His Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Asp3072Gly Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Asp3275Val Uncertain significance Single submitter
ANK2 p.Asp359Glu Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Asp676Val Conflicting Single submitter
complex neurodevelopmental disorder
ANK2 p.Asp844Glu Uncertain significance Single submitter
long QT syndrome
ANK2 p.Glu2707Gly Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Glu3570Lys Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Glu3884Lys Uncertain significance Single submitter
ANK2 p.Glu74Asp Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Gly1253Val Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Gly1439Cys Conflicting Single submitter
Cardiovascular phenotype
ANK2 p.Gly1783Asp Uncertain significance Single submitter
ANK2 p.Gly3135Arg Likely benign Single submitter
Cardiovascular phenotype
ANK2 p.Gly3871Glu Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Gly3922Glu Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Gly53Arg Uncertain significance Single submitter
long QT syndrome
ANK2 p.Gly685Arg Uncertain significance Single submitter
long QT syndrome
ANK2 p.His3466Pro Uncertain significance Single submitter
long QT syndrome
ANK2 p.His965Arg Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Ile103Val Uncertain significance Single submitter
ANK2 p.Ile1520Thr Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Ile1551Val Uncertain significance Single submitter
long QT syndrome
ANK2 p.Ile267Leu Likely pathogenic Single submitter
ANK2 p.Ile3475Met Uncertain significance Single submitter
ANK2 p.Leu1504Val Uncertain significance Single submitter
long QT syndrome
ANK2 p.Leu3069Met Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Leu336Val Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Lys1794Asn Uncertain significance Single submitter
long QT syndrome
ANK2 p.Lys2608Asn Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Lys3351Thr Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Lys349Glu Uncertain significance Single submitter
long QT syndrome
ANK2 p.Lys3639Gln Uncertain significance Single submitter
ANK2 p.Lys419Asn Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Lys509Asn Uncertain significance Single submitter
ANK2 p.Met1349Leu Uncertain significance Single submitter
ANK2 p.Met973Leu Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Phe2187Leu Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Phe3129Cys Uncertain significance Single submitter
cardiac arrhythmia, ankyrin-B-related
ANK2 p.Phe3258Leu Uncertain significance Single submitter
long QT syndrome
ANK2 p.Pro1200Ser Uncertain significance Single submitter
ANK2 p.Pro1240Ala Uncertain significance Single submitter
ANK2 p.Pro1703Thr Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Pro3288Leu Uncertain significance Single submitter
cardiac arrhythmia, ankyrin-B-related
ANK2 p.Pro3296Arg Uncertain significance Single submitter
long QT syndrome
ANK2 p.Pro599Ser Uncertain significance Single submitter
long QT syndrome
ANK2 p.Pro665Ser Conflicting Single submitter
long QT syndrome
ANK2 p.Ser1099Asn Uncertain significance Single submitter
long QT syndrome
ANK2 p.Ser3440Cys Uncertain significance Single submitter
ANK2 p.Ser3514Leu Uncertain significance Single submitter
ANK2 p.Ser575Ile Uncertain significance Single submitter
long QT syndrome
ANK2 p.Ser948Ile Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Thr1215Ile Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Thr1522Ile Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Thr2583Ala Uncertain significance Single submitter
ANK2 p.Thr3093Asn Uncertain significance Single submitter
ANK2 p.Thr3093Pro Uncertain significance Single submitter
ANK2 p.Thr763Met Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Tyr1455Phe Uncertain significance Single submitter
Cardiovascular phenotype
ANK2 p.Tyr3664Cys Uncertain significance Single submitter
long QT syndrome
ANK2 p.Val1096Ala Uncertain significance Single submitter
long QT syndrome
ANK2 p.Val2550Leu Uncertain significance Single submitter
long QT syndrome
ANK2 p.Val708Gly Likely pathogenic Single submitter

All ANK2 variants

Pathogenic 44

p.Arg1088Ter Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Arg3113Ter Multiple submitters Cardiovascular phenotype
p.Arg977Ter Multiple submitters Cardiovascular phenotype
p.Gln3921Ter Multiple submitters Cardiovascular phenotype
c.2796+1G>A Single submitter
c.4248+1G>T Single submitter
p.Ala1405fs Single submitter long QT syndrome
p.Arg1138Ter Single submitter
p.Arg1427Ter Single submitter
p.Arg1817fs Single submitter ANK2-associated seizure disorder
p.Arg2688Ter Single submitter
p.Arg985fs Single submitter
p.Asp3039fs Single submitter Cardiovascular phenotype
p.Asp3081fs Single submitter long QT syndrome
p.Asp3180fs Single submitter neurodevelopmental disorder
p.Gln3074Ter Single submitter Cardiovascular phenotype
p.Gln3076Ter Single submitter long QT syndrome
p.Gln3494fs Single submitter long QT syndrome
p.Gln3813Ter Single submitter Cardiovascular phenotype
p.Glu1091fs Single submitter long QT syndrome
p.Glu1460Ter Single submitter neurodevelopmental disorder
p.Glu1816fs Single submitter Cardiovascular phenotype
p.Glu3062Ter Single submitter autism spectrum disorder
p.Glu3160Ter Single submitter long QT syndrome
p.Glu3422Ter Single submitter Cardiovascular phenotype
p.Glu346Ter Single submitter
p.Glu3525Ter Single submitter long QT syndrome
p.Glu3590Ter Single submitter ANK2-associated Neurodevelopmental Disorder
p.Gly1586fs Single submitter Cardiovascular phenotype
p.Gly2083fs Single submitter neurodevelopmental disorder
p.Gly3456fs Single submitter
p.Gly761fs Single submitter Cardiovascular phenotype
p.Leu1737Ter Single submitter Cardiovascular phenotype
p.Leu3108fs Single submitter long QT syndrome
p.Leu3438fs Single submitter neurodevelopmental disorder
p.Phe3055fs Single submitter long QT syndrome
p.Pro3080fs Single submitter Cardiovascular phenotype
p.Ser1879fs Single submitter neurodevelopmental disorder
p.Ser3273fs Single submitter long QT syndrome
p.Ser3495fs Single submitter long QT syndrome
p.Ser930fs Single submitter long QT syndrome
p.Thr3457fs Single submitter
p.Val1095fs Single submitter Cardiovascular phenotype
p.Arg2292Ter No assertion criteria

Pathogenic/Likely pathogenic 4

p.Arg1007Ter Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Arg888Ter Multiple submitters ANK2-related epilepsy
p.Arg895Ter Multiple submitters Cardiovascular phenotype
p.Lys2252_Lys2253insTer Multiple submitters Cardiovascular phenotype

Likely pathogenic 43

c.10682-2A>G Single submitter ANK2-associated disorder
c.10757-2A>G Single submitter ANK2-related disorder
c.11694+1G>T Single submitter long QT syndrome
c.118_186+175delinsGAGCTAATGTTGCTGAAAAATTAGCTCC Single submitter long QT syndrome
c.1485+1G>A Single submitter long QT syndrome
c.2179-1G>A Single submitter Inborn genetic diseases
c.2548+1G>A Single submitter
c.3224+1G>A Single submitter
c.4371+1G>A Single submitter ANK2-related disorder
c.483+1G>A Single submitter long QT syndrome
c.85-56996T>C Single submitter
p.Ala1529fs Single submitter
p.Arg2052Ter Single submitter
p.Arg22fs Single submitter cardiac arrhythmia, ankyrin-B-related
p.Arg2416Ter Single submitter
p.Arg3441Ter Single submitter ANK2-related disorder
p.Arg3454fs Single submitter Inborn genetic diseases
p.Arg473Ter Single submitter
p.Arg86Ter Single submitter ANK2-related disorder
p.Arg900Ter Single submitter ANK2-related disorder
p.Cys1616Arg Single submitter ⚠
p.Gln1159Ter Single submitter
p.Gly1793fs Single submitter
p.Gly3678Arg Single submitter
p.Gly859Ter Single submitter
p.Ile1164fs Single submitter
p.Ile267Leu Single submitter ⚠
p.Leu3580Pro Single submitter
p.Lys1457= Single submitter ANK2-associated disorder
p.Lys1631fs Single submitter cardiac arrhythmia, ankyrin-B-related
p.Phe1401fs Single submitter complex neurodevelopmental disorder
p.Pro1068fs Single submitter
p.Pro2615His Single submitter ⚠
p.Ser2250Leu Single submitter Brugada syndrome ⚠
p.Ser2679Ter Single submitter ANK-related Autism spectrum disorder and epilepsy
p.Ser3713Ala Single submitter cardiac arrhythmia, ankyrin-B-related ⚠
p.Val708Gly Single submitter ⚠
p.Asn2047fs No assertion criteria ANK2-related disorder
p.Ile2050Thr No assertion criteria long QT syndrome ⚠
p.Lys1626Glu No assertion criteria long QT syndrome ⚠
p.Met677Thr No assertion criteria
p.Thr1910fs No assertion criteria ANK2-related disorder
p.Val2708Ala No assertion criteria long QT syndrome ⚠

Conflicting classifications of pathogenicity 336

Showing the top 300 by review status; the full set is in the sitemap.

c.10889-8T>A Single submitter long QT syndrome
c.11610+5G>A Single submitter Cardiovascular phenotype
c.11859+2T>G Single submitter ANK2-related disorder ⚠
c.1189-5C>T Single submitter Cardiovascular phenotype
c.1287+10T>C Single submitter long QT syndrome
c.1288-4G>A Single submitter Cardiovascular phenotype
c.1288-5C>T Single submitter Cardiovascular phenotype
c.1387-8C>T Single submitter long QT syndrome
c.1783-4A>G Single submitter long QT syndrome
c.187-8TC[2] Single submitter Cardiovascular phenotype
c.1881+12A>C Single submitter cardiac arrhythmia, ankyrin-B-related
c.2377-7_2377-4del Single submitter Cardiovascular phenotype
c.2900+15A>C Single submitter cardiac arrhythmia, ankyrin-B-related
c.3224+6A>G Single submitter long QT syndrome
c.3379+4C>A Single submitter Cardiovascular phenotype
c.3379+4C>T Single submitter long QT syndrome
c.3796+18G>A Single submitter cardiac rhythm disease
c.385-6C>T Single submitter long QT syndrome
c.4122+4C>A Single submitter Cardiovascular phenotype
c.4371+19T>C Single submitter
c.4371+5C>T Single submitter Cardiovascular phenotype
c.4371+6G>A Single submitter long QT syndrome
c.669+3A>G Single submitter long QT syndrome
c.670-10A>G Single submitter long QT syndrome
c.792+15A>G Single submitter cardiac arrhythmia, ankyrin-B-related
c.84+11G>A Single submitter cardiac arrhythmia, ankyrin-B-related
c.85-5C>T Single submitter long QT syndrome
c.-39G>T Single submitter cardiac arrhythmia, ankyrin-B-related
p.Ala1328= Single submitter long QT syndrome
p.Ala1519Ser Single submitter Cardiovascular phenotype ⚠
p.Ala1540Ser Single submitter Cardiovascular phenotype ⚠
p.Ala1540Val Single submitter long QT syndrome ⚠
p.Ala1744Asp Single submitter long QT syndrome ⚠
p.Ala1819Val Single submitter Cardiovascular phenotype ⚠
p.Ala1837Thr Single submitter Cardiovascular phenotype ⚠
p.Ala1861_Ser1884del Single submitter long QT syndrome
p.Ala1954Ser Single submitter Cardiovascular phenotype ⚠
p.Ala199= Single submitter cardiac arrhythmia, ankyrin-B-related
p.Ala2211Val Single submitter Cardiovascular phenotype ⚠
p.Ala2336Thr Single submitter Cardiovascular phenotype ⚠
p.Ala2381Asp Single submitter Cardiovascular phenotype ⚠
p.Ala2948Gly Single submitter Cardiovascular phenotype ⚠
p.Ala3054Gly Single submitter long QT syndrome
p.Ala307= Single submitter long QT syndrome
p.Ala327= Single submitter cardiac arrhythmia, ankyrin-B-related
p.Ala3339Val Single submitter Cardiovascular phenotype ⚠
p.Ala3373Thr Single submitter ANK2-related disorder ⚠
p.Ala3373Val Single submitter Cardiovascular phenotype ⚠
p.Ala3380Thr Single submitter Cardiovascular phenotype ⚠
p.Ala3383Thr Single submitter cardiac arrhythmia, ankyrin-B-related ⚠
p.Ala340= Single submitter Cardiovascular phenotype
p.Ala3432Asp Single submitter Cardiovascular phenotype ⚠
p.Ala393Thr Single submitter Cardiovascular phenotype ⚠
p.Ala637Val Single submitter Cardiovascular phenotype
p.Arg1305Ter Single submitter neurodevelopmental disorder ⚠
p.Arg1604Lys Single submitter Cardiovascular phenotype ⚠
p.Arg1776Gln Single submitter long QT syndrome ⚠
p.Arg1991Gln Single submitter Cardiovascular phenotype
p.Arg2040Thr Single submitter Cardiovascular phenotype ⚠
p.Arg2069Cys Single submitter Cardiovascular phenotype ⚠
p.Arg2154Cys Single submitter Cardiovascular phenotype ⚠
p.Arg2292Gln Single submitter long QT syndrome ⚠
p.Arg2354His Single submitter long QT syndrome ⚠
p.Arg2466Cys Single submitter long QT syndrome ⚠
p.Arg2511Ter Single submitter Cardiovascular phenotype ⚠
p.Arg2581Lys Single submitter cardiac arrhythmia, ankyrin-B-related ⚠
p.Arg2581Ser Single submitter long QT syndrome
p.Arg2747Cys Single submitter long QT syndrome ⚠
p.Arg3058Cys Single submitter Cardiovascular phenotype
p.Arg3263Ser Single submitter long QT syndrome
p.Arg3549His Single submitter Cardiovascular phenotype ⚠
p.Arg3568Gln Single submitter Cardiovascular phenotype
p.Arg3568Trp Single submitter cardiac arrhythmia, ankyrin-B-related
p.Arg3602Gln Single submitter Cardiovascular phenotype ⚠
p.Arg3642Ter Single submitter Inborn genetic diseases ⚠
p.Arg3659Cys Single submitter cardiac arrhythmia, ankyrin-B-related
p.Arg3659His Single submitter Cardiovascular phenotype ⚠
p.Arg3659Leu Single submitter ANK2-related disorder ⚠
p.Arg379Leu Single submitter long QT syndrome ⚠
p.Arg3906Trp Single submitter Cardiovascular phenotype ⚠
p.Arg946Cys Single submitter Cardiovascular phenotype
p.Arg977Gln Single submitter Cardiovascular phenotype
p.Arg982Ter Single submitter Cardiovascular phenotype ⚠
p.Arg990Ter Single submitter ANK2-related disorder ⚠
p.Asn1101Lys Single submitter Cardiovascular phenotype
p.Asn1563His Single submitter Cardiovascular phenotype ⚠
p.Asn1638Asp Single submitter long QT syndrome ⚠
p.Asn247= Single submitter Cardiovascular phenotype
p.Asn2576= Single submitter Cardiovascular phenotype
p.Asn3294His Single submitter Cardiovascular phenotype ⚠
p.Asn66= Single submitter long QT syndrome
p.Asn687Ser Single submitter Cardiovascular phenotype ⚠
p.Asn956= Single submitter Cardiovascular phenotype
p.Asp2299Val Single submitter Cardiovascular phenotype ⚠
p.Asp2325His Single submitter Cardiovascular phenotype ⚠
p.Asp2326Gly Single submitter cardiac arrhythmia, ankyrin-B-related ⚠
p.Asp2417His Single submitter long QT syndrome
p.Asp2700Asn Single submitter Cardiovascular phenotype
p.Asp2799Asn Single submitter Cardiovascular phenotype ⚠
p.Asp2800Glu Single submitter Cardiovascular phenotype ⚠
p.Asp2802His Single submitter Cardiovascular phenotype ⚠
p.Asp2821Glu Single submitter long QT syndrome ⚠
p.Asp293Asn Single submitter long QT syndrome
p.Asp3039Gly Single submitter Cardiovascular phenotype
p.Asp3081Val Single submitter long QT syndrome ⚠
p.Asp3176Tyr Single submitter Cardiovascular phenotype ⚠
p.Asp3177His Single submitter long QT syndrome ⚠
p.Asp3275Glu Single submitter long QT syndrome ⚠
p.Asp3707Asn Single submitter Cardiovascular phenotype ⚠
p.Asp3853Asn Single submitter Cardiovascular phenotype ⚠
p.Asp3865Gly Single submitter Cardiovascular phenotype ⚠
p.Asp3954= Single submitter Cardiovascular phenotype
p.Asp676Val Single submitter complex neurodevelopmental disorder ⚠
p.Asp720Glu Single submitter Cardiovascular phenotype ⚠
p.Asp918= Single submitter long QT syndrome
p.Asp924Tyr Single submitter long QT syndrome
p.Cys1647Tyr Single submitter Cardiovascular phenotype ⚠
p.Cys2777Phe Single submitter Cardiovascular phenotype ⚠
p.Cys3687Ser Single submitter Cardiovascular phenotype ⚠
p.Gln156= Single submitter cardiac arrhythmia, ankyrin-B-related
p.Gln2048Arg Single submitter cardiac arrhythmia, ankyrin-B-related ⚠
p.Gln2048Glu Single submitter Cardiovascular phenotype ⚠
p.Gln2672Pro Single submitter Cardiovascular phenotype ⚠
p.Gln2794Arg Single submitter Cardiovascular phenotype ⚠
p.Gln3281Arg Single submitter Cardiovascular phenotype ⚠
p.Gln3281Glu Single submitter long QT syndrome ⚠
p.Gln3785Arg Single submitter ANK2-related disorder ⚠
p.Gln704Glu Single submitter cardiac arrhythmia, ankyrin-B-related
p.Glu1458Gly Single submitter Cardiovascular phenotype
p.Glu2109Lys Single submitter Cardiovascular phenotype ⚠
p.Glu2278Ala Single submitter Cardiovascular phenotype ⚠
p.Glu2371Lys Single submitter Cardiovascular phenotype ⚠
p.Glu2378Lys Single submitter Cardiovascular phenotype ⚠
p.Glu2410Gln Single submitter long QT syndrome ⚠
p.Glu2518Gly Single submitter long QT syndrome
p.Glu2706Gln Single submitter long QT syndrome ⚠
p.Glu2755Lys Single submitter long QT syndrome ⚠
p.Glu2884Gly Single submitter Cardiovascular phenotype ⚠
p.Glu3016Lys Single submitter Cardiovascular phenotype ⚠
p.Glu3525Lys Single submitter cardiac arrhythmia, ankyrin-B-related
p.Glu3565Lys Single submitter congestive heart failure
p.Glu3570Lys Single submitter Cardiovascular phenotype ⚠
p.Glu3635Gln Single submitter long QT syndrome
p.Glu3704Lys Single submitter Cardiovascular phenotype ⚠
p.Glu3767Val Single submitter cardiac arrhythmia, ankyrin-B-related ⚠
p.Gly1023Arg Single submitter cardiac arrhythmia, ankyrin-B-related
p.Gly1025Ala Single submitter Cardiovascular phenotype
p.Gly1169= Single submitter cardiac arrhythmia, ankyrin-B-related
p.Gly1439Cys Single submitter Cardiovascular phenotype ⚠
p.Gly1943Arg Single submitter Cardiovascular phenotype ⚠
p.Gly2196Ser Single submitter long QT syndrome ⚠
p.Gly2577Arg Single submitter cardiac arrhythmia, ankyrin-B-related ⚠
p.Gly2648Arg Single submitter Cardiovascular phenotype ⚠
p.Gly2816Asp Single submitter Cardiovascular phenotype ⚠
p.Gly2990Ser Single submitter Cardiovascular phenotype ⚠
p.Gly3270Cys Single submitter long QT syndrome
p.Gly662= Single submitter Cardiovascular phenotype
p.His1337Gln Single submitter long QT syndrome ⚠
p.His2361Arg Single submitter Cardiovascular phenotype ⚠
p.His2449Arg Single submitter long QT syndrome
p.His2486Gln Single submitter Cardiovascular phenotype ⚠
p.His2639Asp Single submitter Cardiovascular phenotype ⚠
p.His271= Single submitter long QT syndrome
p.His2775Arg Single submitter Cardiovascular phenotype ⚠
p.His3526Gln Single submitter Cardiovascular phenotype ⚠
p.His3627Gln Single submitter Cardiovascular phenotype
p.Ile1219Val Single submitter Cardiovascular phenotype
p.Ile1600Thr Single submitter long QT syndrome
p.Ile2073Thr Single submitter long QT syndrome ⚠
p.Ile2073Val Single submitter long QT syndrome ⚠
p.Ile2285Thr Single submitter Cardiovascular phenotype ⚠
p.Ile2964Met Single submitter Cardiovascular phenotype ⚠
p.Ile3285Leu Single submitter Cardiovascular phenotype
p.Ile3501Met Single submitter Cardiovascular phenotype ⚠
p.Ile3516Thr Single submitter Cardiovascular phenotype
p.Ile3543Val Single submitter Cardiovascular phenotype ⚠
p.Ile3888Val Single submitter Cardiovascular phenotype ⚠
p.Ile635= Single submitter long QT syndrome
p.Ile777Val Single submitter long QT syndrome ⚠
p.Leu1428= Single submitter long QT syndrome
p.Leu1833Phe Single submitter Cardiovascular phenotype ⚠
p.Leu2681Val Single submitter Cardiovascular phenotype ⚠
p.Leu2762= Single submitter Cardiovascular phenotype
p.Leu2793Pro Single submitter Cardiovascular phenotype ⚠
p.Leu333= Single submitter cardiac arrhythmia, ankyrin-B-related
p.Leu3354Val Single submitter Cardiovascular phenotype ⚠
p.Leu3511= Single submitter Cardiovascular phenotype
p.Leu3621Val Single submitter Cardiovascular phenotype
p.Leu3846= Single submitter cardiac arrhythmia, ankyrin-B-related
p.Leu484= Single submitter long QT syndrome
p.Leu549= Single submitter long QT syndrome
p.Leu558Ser Single submitter cardiac arrhythmia, ankyrin-B-related ⚠
p.Leu633= Single submitter Cardiovascular phenotype
p.Leu936Val Single submitter Cardiovascular phenotype ⚠
p.Lys1407Arg Single submitter long QT syndrome ⚠
p.Lys1661Glu Single submitter Cardiovascular phenotype ⚠
p.Lys1677Asn Single submitter Cardiovascular phenotype ⚠
p.Lys1909Arg Single submitter Cardiovascular phenotype ⚠
p.Lys2076Asn Single submitter Cardiovascular phenotype ⚠
p.Lys2362Glu Single submitter ANK2-related disorder ⚠
p.Lys2390Gln Single submitter long QT syndrome ⚠
p.Lys2390Met Single submitter cardiac arrhythmia, ankyrin-B-related ⚠
p.Lys2479Arg Single submitter long QT syndrome ⚠
p.Lys2616= Single submitter cardiac arrhythmia, ankyrin-B-related
p.Lys2737Gln Single submitter long QT syndrome ⚠
p.Lys3060= Single submitter cardiac arrhythmia, ankyrin-B-related
p.Lys3938Arg Single submitter long QT syndrome ⚠
p.Met1020Val Single submitter long QT syndrome
p.Met2699Ile Single submitter long QT syndrome ⚠
p.Met2722Ile Single submitter Cardiovascular phenotype ⚠
p.Met2906Val Single submitter Cardiovascular phenotype ⚠
p.Met3019Leu Single submitter long QT syndrome ⚠
p.Met3019Val Single submitter Cardiovascular phenotype ⚠
p.Met3649Val Single submitter Cardiovascular phenotype ⚠
p.Phe1386= Single submitter Cardiovascular phenotype
p.Phe2883Val Single submitter long QT syndrome ⚠
p.Pro1339Leu Single submitter Cardiovascular phenotype
p.Pro1545Thr Single submitter long QT syndrome ⚠
p.Pro1811Ser Single submitter long QT syndrome ⚠
p.Pro1811Thr Single submitter long QT syndrome ⚠
p.Pro1825Ser Single submitter long QT syndrome ⚠
p.Pro2035Leu Single submitter Cardiovascular phenotype ⚠
p.Pro2057Leu Single submitter Cardiovascular phenotype ⚠
p.Pro2316Ser Single submitter long QT syndrome ⚠
p.Pro2383Arg Single submitter long QT syndrome ⚠
p.Pro2383Leu Single submitter Cardiovascular phenotype ⚠
p.Pro2385Ser Single submitter long QT syndrome ⚠
p.Pro2696Leu Single submitter long QT syndrome
p.Pro2796Leu Single submitter Cardiovascular phenotype ⚠
p.Pro2805Leu Single submitter Cardiovascular phenotype ⚠
p.Pro2851Leu Single submitter long QT syndrome ⚠
p.Pro2887Ser Single submitter cardiac arrhythmia, ankyrin-B-related ⚠
p.Pro2967Ala Single submitter Brugada syndrome ⚠
p.Pro3235Leu Single submitter Cardiovascular phenotype ⚠
p.Pro3235Ser Single submitter long QT syndrome ⚠
p.Pro3274= Single submitter long QT syndrome
p.Pro3305= Single submitter Cardiovascular phenotype
p.Pro3562Leu Single submitter Cardiovascular phenotype ⚠
p.Pro3824Ala Single submitter Cardiovascular phenotype ⚠
p.Pro3841Leu Single submitter long QT syndrome ⚠
p.Pro632= Single submitter cardiac arrhythmia, ankyrin-B-related
p.Pro665Ser Single submitter long QT syndrome ⚠
p.Ser1172Asn Single submitter Cardiovascular phenotype ⚠
p.Ser1870Leu Single submitter Cardiovascular phenotype ⚠
p.Ser1917Leu Single submitter Cardiovascular phenotype ⚠
p.Ser19Asn Single submitter long QT syndrome ⚠
p.Ser2248= Single submitter Cardiovascular phenotype
p.Ser2422= Single submitter long QT syndrome
p.Ser2422Asn Single submitter cardiac arrhythmia, ankyrin-B-related
p.Ser2471Asn Single submitter long QT syndrome ⚠
p.Ser2623Cys Single submitter long QT syndrome ⚠
p.Ser2655Leu Single submitter Cardiovascular phenotype ⚠
p.Ser2662Phe Single submitter Cardiovascular phenotype
p.Ser2715Phe Single submitter cardiac arrhythmia, ankyrin-B-related ⚠
p.Ser2739Cys Single submitter Cardiovascular phenotype ⚠
p.Ser2938Pro Single submitter long QT syndrome ⚠
p.Ser2976Cys Single submitter long QT syndrome ⚠
p.Ser3046Asn Single submitter Cardiovascular phenotype
p.Ser3096Gly Single submitter cardiac arrhythmia, ankyrin-B-related
p.Ser3323Gly Single submitter long QT syndrome ⚠
p.Ser3331Pro Single submitter Cardiovascular phenotype ⚠
p.Ser3448Cys Single submitter Cardiovascular phenotype
p.Ser3736= Single submitter Cardiovascular phenotype
p.Ser3839Thr Single submitter Cardiovascular phenotype
p.Ser591= Single submitter Cardiovascular phenotype
p.Ser646Phe Single submitter ANK2-related disorder
p.Ser874= Single submitter Cardiovascular phenotype
p.Thr1113Ala Single submitter Cardiovascular phenotype
p.Thr1420Met Single submitter Cardiovascular phenotype ⚠
p.Thr1437Met Single submitter Cardiovascular phenotype ⚠
p.Thr1612Ile Single submitter Cardiovascular phenotype ⚠
p.Thr1839Pro Single submitter long QT syndrome ⚠
p.Thr1863Met Single submitter Cardiovascular phenotype ⚠
p.Thr2177del Single submitter Cardiovascular phenotype
p.Thr2242Met Single submitter Cardiovascular phenotype
p.Thr2258Ile Single submitter long QT syndrome ⚠
p.Thr2295Ala Single submitter long QT syndrome ⚠
p.Thr2304= Single submitter Cardiovascular phenotype
p.Thr2379Lys Single submitter Cardiovascular phenotype ⚠
p.Thr2395Pro Single submitter long QT syndrome ⚠
p.Thr2500Met Single submitter long QT syndrome ⚠
p.Thr2726Ala Single submitter long QT syndrome ⚠
p.Thr2868= Single submitter cardiac arrhythmia, ankyrin-B-related
p.Thr2877Ile Single submitter Cardiovascular phenotype ⚠
p.Thr2882Ile Single submitter long QT syndrome ⚠
p.Thr3024del Single submitter long QT syndrome
p.Thr3093= Single submitter Cardiovascular phenotype
p.Thr3142Pro Single submitter Cardiovascular phenotype ⚠
p.Thr3174Ala Single submitter Cardiovascular phenotype ⚠
p.Thr3227Pro Single submitter Cardiovascular phenotype ⚠
p.Thr3230Met Single submitter long QT syndrome ⚠
p.Thr3651Ala Single submitter Cardiovascular phenotype ⚠
p.Thr3670= Single submitter long QT syndrome
p.Thr3670Asn Single submitter Cardiovascular phenotype
p.Thr3744Asn Single submitter Cardiovascular phenotype ⚠
p.Thr3744Pro Single submitter Cardiovascular phenotype ⚠
p.Thr3894= Single submitter long QT syndrome
p.Thr715Ile Single submitter Cardiovascular phenotype ⚠
p.Thr730= Single submitter cardiac arrhythmia, ankyrin-B-related
p.Thr826del Single submitter Cardiovascular phenotype

Benign 138

c.10888+20C>T Multiple submitters long QT syndrome
c.11032+20TG[12] Multiple submitters long QT syndrome
c.11032+20TG[13] Multiple submitters long QT syndrome
c.11032+20TG[16] Multiple submitters long QT syndrome
c.11032+20TG[18] Multiple submitters long QT syndrome
c.11318+100A>T Multiple submitters
c.11318+140A>G Multiple submitters
c.11318+163G>A Multiple submitters
c.11694+19T>A Multiple submitters cardiac arrhythmia, ankyrin-B-related
c.11860-18T>G Multiple submitters long QT syndrome
c.1386+137C>T Multiple submitters
c.1387-116T>G Multiple submitters
c.1387-48C>T Multiple submitters
c.187-52C>T Multiple submitters
c.1881+8C>G Multiple submitters cardiac arrhythmia, ankyrin-B-related
c.21+151A>T Multiple submitters
c.2178+18C>T Multiple submitters long QT syndrome
c.22-124813C>T Multiple submitters
c.2277+121T>C Multiple submitters
c.2277+49C>T Multiple submitters
c.2277+90T>C Multiple submitters
c.2548+18T>C Multiple submitters long QT syndrome
c.2797-131G>T Multiple submitters
c.285+101G>A Multiple submitters
c.2901-16C>G Multiple submitters long QT syndrome
c.3379+90A>G Multiple submitters
c.3592-27A>T Multiple submitters
c.3796+127T>G Multiple submitters
c.3796+55G>A Multiple submitters
c.384+119T>C Multiple submitters
c.384+19C>T Multiple submitters cardiac rhythm disease
c.3893+10T>C Multiple submitters long QT syndrome
c.3893+14G>T Multiple submitters long QT syndrome
c.3893+60C>T Multiple submitters
c.4122+29T>G Multiple submitters
c.4249-21T>C Multiple submitters
c.4249-33G>A Multiple submitters
c.4372-264C>T Multiple submitters
c.4404+16T>C Multiple submitters long QT syndrome
c.4404+45G>A Multiple submitters
c.4404+88G>A Multiple submitters
c.4426+200A>G Multiple submitters
c.891+34T>G Multiple submitters
c.990+136A>G Multiple submitters
c.990+58A>G Multiple submitters
c.*7C>T Multiple submitters cardiac arrhythmia, ankyrin-B-related
c.*908A>G Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Ala2336Val Multiple submitters long QT syndrome
p.Arg1193= Multiple submitters Cardiovascular phenotype
p.Glu3216= Multiple submitters Cardiovascular phenotype
p.Glu415= Multiple submitters Cardiovascular phenotype
p.His3891= Multiple submitters Cardiovascular phenotype
p.Ile3930= Multiple submitters Cardiovascular phenotype
p.Leu2056= Multiple submitters Cardiovascular phenotype
p.Pro1823= Multiple submitters Cardiovascular phenotype
p.Pro2835Ser Multiple submitters Cardiovascular phenotype
p.Pro665= Multiple submitters Cardiovascular phenotype
p.Ser1905= Multiple submitters Cardiovascular phenotype
p.Ser3332= Multiple submitters Cardiovascular phenotype
p.Val1170= Multiple submitters cardiac rhythm disease
p.Val779= Multiple submitters Cardiovascular phenotype
c.11319-179C>T Single submitter
c.11319-191A>G Single submitter
c.11610+1537T>C Single submitter
c.11859+1319C>T Single submitter
c.11859+1463C>T Single submitter
c.11860-210dup Single submitter
c.11860-3266A>C Single submitter
c.1387-161dup Single submitter
c.1683+19T>C Single submitter long QT syndrome
c.1782+221C>T Single submitter
c.186+3A>G Single submitter long QT syndrome
c.187-244A>G Single submitter
c.187-46dup Single submitter
c.1881+9C>A Single submitter long QT syndrome
c.21+199T>C Single submitter
c.2178+266T>C Single submitter
c.2178+274G>A Single submitter
c.2179-194C>T Single submitter
c.2179-196C>T Single submitter
c.22-124794A>C Single submitter
c.2548+62del Single submitter
c.2796+15G>A Single submitter
c.2797-346A>G Single submitter
c.286-233C>T Single submitter
c.286-244T>C Single submitter
c.286-76dup Single submitter
c.2900+5135G>A Single submitter
c.2900+5145C>T Single submitter
c.2901-10del Single submitter long QT syndrome
c.3125+124C>A Single submitter
c.3224+17del Single submitter long QT syndrome
c.3225-245T>C Single submitter
c.3379+205T>C Single submitter
c.3379+89_3379+90insGTGTGTGT Single submitter
c.3379+91TG[17] Single submitter
c.3379+91TG[18] Single submitter
c.3379+91TG[19] Single submitter
c.3591+249del Single submitter
c.3592-98dup Single submitter
c.3592-99_3592-98dup Single submitter
c.3796+200T>A Single submitter
c.3796+264G>T Single submitter
c.3797-12A>G Single submitter
c.3797-213A>G Single submitter
c.3797-646T>C Single submitter
c.385-255A>T Single submitter
c.3893+163G>A Single submitter
c.3893+6G>A Single submitter
c.3894-1012G>A Single submitter
c.3894-181C>G Single submitter
c.4122+15dup Single submitter long QT syndrome
c.4122+550C>T Single submitter
c.4123-257G>T Single submitter
c.4123-303dup Single submitter
c.4371+221T>A Single submitter
c.4427-194T>G Single submitter
c.669+70del Single submitter
c.693+274A>C Single submitter
c.85-28427G>A Single submitter
c.85-28433G>A Single submitter
c.85-28497A>G Single submitter
c.85-57714A>G Single submitter long QT syndrome
c.891+229T>C Single submitter
c.991-32dup Single submitter
c.-18C>G Single submitter
c.-39-203T>C Single submitter
c.-39G>C Single submitter
c.*109C>T Single submitter
c.*446T>C Single submitter cardiac arrhythmia, ankyrin-B-related
p.Arg2416= Single submitter Cardiovascular phenotype
p.Gln770= Single submitter
p.His3708= Single submitter
p.Ile2964Thr Single submitter long QT syndrome
p.Ile3134Val Single submitter long QT syndrome
p.Lys1767Arg Single submitter
p.Pro1926= Single submitter Cardiovascular phenotype
p.Ser1104= Single submitter

Benign/Likely benign 119

c.11032+17G>A Multiple submitters long QT syndrome
c.11032+19_11032+20del Multiple submitters long QT syndrome
c.11032+19A>G Multiple submitters long QT syndrome
c.11032+20TG[14] Multiple submitters long QT syndrome
c.11032+20TG[17] Multiple submitters long QT syndrome
c.1485+19A>G Multiple submitters cardiac arrhythmia, ankyrin-B-related
c.2080-18G>T Multiple submitters long QT syndrome
c.2277+9C>T Multiple submitters long QT syndrome
c.2278-11G>A Multiple submitters cardiac arrhythmia, ankyrin-B-related
c.2377-8C>T Multiple submitters long QT syndrome
c.285+19G>A Multiple submitters long QT syndrome
c.3224+7G>A Multiple submitters long QT syndrome
c.3379+12T>G Multiple submitters cardiac arrhythmia, ankyrin-B-related
c.4123-13T>C Multiple submitters long QT syndrome
c.4123-19T>G Multiple submitters long QT syndrome
c.4372-20T>C Multiple submitters long QT syndrome
c.4372-7C>T Multiple submitters cardiac arrhythmia, ankyrin-B-related
c.694-17T>C Multiple submitters long QT syndrome
c.84+7C>T Multiple submitters long QT syndrome
c.85-28465C>T Multiple submitters
c.85-28483T>A Multiple submitters
c.85-28511G>T Multiple submitters
c.85-4G>A Multiple submitters long QT syndrome
c.*110G>A Multiple submitters
p.Ala1085= Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Ala1181= Multiple submitters long QT syndrome
p.Ala2211= Multiple submitters long QT syndrome
p.Ala2569= Multiple submitters Cardiovascular phenotype
p.Ala3021Thr Multiple submitters Cardiovascular phenotype
p.Ala3339= Multiple submitters Cardiovascular phenotype
p.Ala3421= Multiple submitters Cardiovascular phenotype
p.Ala467= Multiple submitters Cardiovascular phenotype
p.Ala525= Multiple submitters Cardiovascular phenotype
p.Ala546= Multiple submitters Cardiovascular phenotype
p.Ala570= Multiple submitters Cardiovascular phenotype
p.Ala940Gly Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Arg1011= Multiple submitters Cardiovascular phenotype
p.Arg1582Gln Multiple submitters Cardiovascular phenotype
p.Arg1582Trp Multiple submitters Cardiovascular phenotype
p.Arg2747His Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Arg321Gln Multiple submitters Cardiovascular phenotype
p.Arg3420= Multiple submitters long QT syndrome
p.Arg379Cys Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Arg3906= Multiple submitters Cardiovascular phenotype
p.Arg990= Multiple submitters Cardiovascular phenotype
p.Asn1122= Multiple submitters Cardiovascular phenotype
p.Asn1294= Multiple submitters Cardiovascular phenotype
p.Asn3955Ser Multiple submitters Cardiovascular phenotype
p.Asn709= Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Asn788= Multiple submitters long QT syndrome
p.Asp1384= Multiple submitters long QT syndrome
p.Asp2417= Multiple submitters Cardiovascular phenotype
p.Asp2828= Multiple submitters Cardiovascular phenotype
p.Asp3872= Multiple submitters long QT syndrome
p.Asp882= Multiple submitters Cardiovascular phenotype
p.Gln2353= Multiple submitters Cardiovascular phenotype
p.Gln2923Arg Multiple submitters Cardiovascular phenotype
p.Gln750Arg Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Glu1309= Multiple submitters long QT syndrome
p.Glu2636= Multiple submitters Cardiovascular phenotype
p.Glu2644= Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Glu3465= Multiple submitters Cardiovascular phenotype
p.Glu3876= Multiple submitters long QT syndrome
p.Glu3931Lys Multiple submitters cardiac rhythm disease
p.Gly1635= Multiple submitters Cardiovascular phenotype
p.Gly2212Ser Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Gly2216= Multiple submitters Cardiovascular phenotype
p.Gly2221Glu Multiple submitters long QT syndrome
p.Gly3727= Multiple submitters Cardiovascular phenotype
p.Gly3822Ala Multiple submitters Cardiovascular phenotype
p.Gly87= Multiple submitters Cardiovascular phenotype
p.Gly893= Multiple submitters Cardiovascular phenotype
p.Gly950= Multiple submitters Cardiovascular phenotype
p.His601= Multiple submitters long QT syndrome
p.Ile1321= Multiple submitters Cardiovascular phenotype
p.Ile2865= Multiple submitters long QT syndrome
p.Ile2993Met Multiple submitters Cardiovascular phenotype
p.Ile3285Thr Multiple submitters Cardiovascular phenotype
p.Ile446= Multiple submitters Cardiovascular phenotype
p.Leu1046= Multiple submitters long QT syndrome
p.Leu183= Multiple submitters long QT syndrome
p.Leu2886= Multiple submitters Cardiovascular phenotype
p.Leu3740Ile Multiple submitters cardiac rhythm disease
p.Leu3862= Multiple submitters long QT syndrome
p.Leu44Val Multiple submitters Cardiovascular phenotype
p.Lys147= Multiple submitters Cardiovascular phenotype
p.Lys1771= Multiple submitters Cardiovascular phenotype
p.Lys1995= Multiple submitters Cardiovascular phenotype
p.Lys3464= Multiple submitters Cardiovascular phenotype
p.Pro2796= Multiple submitters Cardiovascular phenotype
p.Pro2909= Multiple submitters Cardiovascular phenotype
p.Pro3344= Multiple submitters long QT syndrome
p.Pro3841= Multiple submitters long QT syndrome
p.Pro864= Multiple submitters Cardiovascular phenotype
p.Ser1942= Multiple submitters long QT syndrome
p.Ser1979Leu Multiple submitters Cardiovascular phenotype
p.Ser2418= Multiple submitters Cardiovascular phenotype
p.Ser2447= Multiple submitters Cardiovascular phenotype
p.Ser2657= Multiple submitters long QT syndrome
p.Ser2785Leu Multiple submitters Cardiovascular phenotype
p.Ser3020= Multiple submitters Cardiovascular phenotype
p.Ser3300Arg Multiple submitters Cardiovascular phenotype
p.Ser3312= Multiple submitters Cardiovascular phenotype
p.Ser3661= Multiple submitters Cardiovascular phenotype
p.Ser3909Pro Multiple submitters Cardiovascular phenotype
p.Ser904= Multiple submitters Cardiovascular phenotype
p.Thr1518= Multiple submitters long QT syndrome
p.Thr205= Multiple submitters Cardiovascular phenotype
p.Thr2302= Multiple submitters Cardiovascular phenotype
p.Thr2373Ala Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Thr3152Ala Multiple submitters Cardiovascular phenotype
p.Thr3230= Multiple submitters Cardiovascular phenotype
p.Thr3457= Multiple submitters long QT syndrome
p.Thr560= Multiple submitters Cardiovascular phenotype
p.Tyr2611His Multiple submitters Cardiovascular phenotype
p.Tyr861= Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Val2369Ala Multiple submitters cardiac rhythm disease
p.Val2649= Multiple submitters long QT syndrome
p.Val2971Ile Multiple submitters Cardiovascular phenotype

Likely benign 1242

Showing the top 300 by review status; the full set is in the sitemap.

c.10682-20C>T Multiple submitters long QT syndrome
c.10757-9A>G Multiple submitters long QT syndrome
c.10889-5_10889-4del Multiple submitters Cardiovascular phenotype
c.11033-38T>A Multiple submitters
c.11318+157A>G Multiple submitters
c.11695-4dup Multiple submitters long QT syndrome
c.11860-3356C>T Multiple submitters
c.1287+19T>C Multiple submitters long QT syndrome
c.1387-20C>T Multiple submitters long QT syndrome
c.1782+114T>C Multiple submitters
c.1783-16A>C Multiple submitters long QT syndrome
c.186+18A>G Multiple submitters long QT syndrome
c.1882-8C>G Multiple submitters long QT syndrome
c.2079+78C>T Multiple submitters
c.21+24A>G Multiple submitters
c.2278-21C>T Multiple submitters
c.2376+106A>G Multiple submitters
c.2376+12G>A Multiple submitters long QT syndrome
c.2376+20C>T Multiple submitters long QT syndrome
c.2376+35C>T Multiple submitters
c.2377-72G>T Multiple submitters
c.2549-101G>A Multiple submitters
c.285+12G>A Multiple submitters cardiac arrhythmia, ankyrin-B-related
c.286-18T>C Multiple submitters long QT syndrome
c.2900+5230C>T Multiple submitters
c.3224+111G>T Multiple submitters
c.3379+17C>T Multiple submitters long QT syndrome
c.3591+19C>A Multiple submitters long QT syndrome
c.385-150G>A Multiple submitters
c.385-76A>G Multiple submitters
c.4122+117G>A Multiple submitters
c.4248+6dup Multiple submitters long QT syndrome
c.4371+100G>A Multiple submitters
c.4372-12T>C Multiple submitters long QT syndrome
c.4372-192G>T Multiple submitters
c.4372-8G>A Multiple submitters long QT syndrome
c.4404+37T>C Multiple submitters
c.4426+248T>C Multiple submitters
c.4427-8C>T Multiple submitters long QT syndrome
c.483+158G>A Multiple submitters
c.484-4C>T Multiple submitters Cardiovascular phenotype
c.693+144G>A Multiple submitters
c.693+20C>A Multiple submitters long QT syndrome
c.84+8G>A Multiple submitters long QT syndrome
c.891+29A>G Multiple submitters
c.991-11T>C Multiple submitters long QT syndrome
c.*906G>A Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Ala178= Multiple submitters Cardiovascular phenotype
p.Ala1809= Multiple submitters long QT syndrome
p.Ala1819= Multiple submitters Cardiovascular phenotype
p.Ala1869= Multiple submitters Cardiovascular phenotype
p.Ala208= Multiple submitters Cardiovascular phenotype
p.Ala2237= Multiple submitters long QT syndrome
p.Ala2334= Multiple submitters Cardiovascular phenotype
p.Ala2412= Multiple submitters long QT syndrome
p.Ala2749= Multiple submitters Cardiovascular phenotype
p.Ala2813= Multiple submitters long QT syndrome
p.Ala2867= Multiple submitters Cardiovascular phenotype
p.Ala294= Multiple submitters Cardiovascular phenotype
p.Ala373= Multiple submitters Cardiovascular phenotype
p.Ala3737= Multiple submitters Cardiovascular phenotype
p.Ala3852= Multiple submitters long QT syndrome
p.Ala455= Multiple submitters Cardiovascular phenotype
p.Ala474= Multiple submitters Cardiovascular phenotype
p.Ala526= Multiple submitters Cardiovascular phenotype
p.Ala579= Multiple submitters long QT syndrome
p.Ala587= Multiple submitters long QT syndrome
p.Ala768= Multiple submitters Cardiovascular phenotype
p.Ala920= Multiple submitters Cardiovascular phenotype
p.Arg1098= Multiple submitters Cardiovascular phenotype
p.Arg1418= Multiple submitters Cardiovascular phenotype
p.Arg1573= Multiple submitters Cardiovascular phenotype
p.Arg1841= Multiple submitters Cardiovascular phenotype
p.Arg2028= Multiple submitters long QT syndrome
p.Arg2052= Multiple submitters long QT syndrome
p.Arg2106= Multiple submitters Cardiovascular phenotype
p.Arg228= Multiple submitters Cardiovascular phenotype
p.Arg2466His Multiple submitters Cardiovascular phenotype
p.Arg3408= Multiple submitters long QT syndrome
p.Arg3441Gln Multiple submitters Cardiovascular phenotype
p.Arg3454Ser Multiple submitters Cardiovascular phenotype
p.Arg3536= Multiple submitters Cardiovascular phenotype
p.Arg3642= Multiple submitters Cardiovascular phenotype
p.Arg3820Gln Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Arg3842Trp Multiple submitters Cardiovascular phenotype
p.Arg3861= Multiple submitters Cardiovascular phenotype
p.Arg463= Multiple submitters long QT syndrome
p.Arg946= Multiple submitters Cardiovascular phenotype
p.Asn1363= Multiple submitters Cardiovascular phenotype
p.Asn1476= Multiple submitters long QT syndrome
p.Asn3386= Multiple submitters long QT syndrome
p.Asn392= Multiple submitters Cardiovascular phenotype
p.Asn608= Multiple submitters Cardiovascular phenotype
p.Asn755= Multiple submitters long QT syndrome
p.Asn760= Multiple submitters Cardiovascular phenotype
p.Asn778= Multiple submitters Cardiovascular phenotype
p.Asn987= Multiple submitters Cardiovascular phenotype
p.Asp1275= Multiple submitters long QT syndrome
p.Asp1796= Multiple submitters long QT syndrome
p.Asp203= Multiple submitters long QT syndrome
p.Asp219= Multiple submitters Cardiovascular phenotype
p.Asp2377= Multiple submitters long QT syndrome
p.Asp2539= Multiple submitters long QT syndrome
p.Asp2725= Multiple submitters long QT syndrome
p.Asp2738= Multiple submitters Cardiovascular phenotype
p.Asp2799= Multiple submitters Cardiovascular phenotype
p.Asp2838= Multiple submitters Cardiovascular phenotype
p.Asp3185= Multiple submitters Cardiovascular phenotype
p.Asp3275= Multiple submitters long QT syndrome
p.Asp3378= Multiple submitters Cardiovascular phenotype
p.Asp3504= Multiple submitters long QT syndrome
p.Asp3578= Multiple submitters long QT syndrome
p.Asp359= Multiple submitters Cardiovascular phenotype
p.Asp3752= Multiple submitters long QT syndrome
p.Asp3948= Multiple submitters Cardiovascular phenotype
p.Asp866= Multiple submitters Cardiovascular phenotype
p.Cys1323= Multiple submitters Cardiovascular phenotype
p.Cys1425= Multiple submitters Cardiovascular phenotype
p.Cys3453= Multiple submitters Cardiovascular phenotype
p.Cys3706= Multiple submitters Cardiovascular phenotype
p.Gln1316His Multiple submitters Cardiovascular phenotype
p.Gln1688= Multiple submitters Cardiovascular phenotype
p.Gln1949= Multiple submitters Cardiovascular phenotype
p.Gln2020= Multiple submitters Cardiovascular phenotype
p.Gln21= Multiple submitters Cardiovascular phenotype
p.Gln221= Multiple submitters long QT syndrome
p.Gln2407= Multiple submitters Cardiovascular phenotype
p.Gln2709= Multiple submitters Cardiovascular phenotype
p.Gln2999= Multiple submitters Cardiovascular phenotype
p.Gln3064= Multiple submitters long QT syndrome
p.Gln3074= Multiple submitters Cardiovascular phenotype
p.Gln3597= Multiple submitters long QT syndrome
p.Glu1589= Multiple submitters Cardiovascular phenotype
p.Glu1716= Multiple submitters Cardiovascular phenotype
p.Glu1876= Multiple submitters long QT syndrome
p.Glu1986= Multiple submitters Cardiovascular phenotype
p.Glu2523= Multiple submitters Cardiovascular phenotype
p.Glu2529= Multiple submitters Cardiovascular phenotype
p.Glu2803= Multiple submitters long QT syndrome
p.Glu2823= Multiple submitters Cardiovascular phenotype
p.Glu2881= Multiple submitters Cardiovascular phenotype
p.Glu3127= Multiple submitters Cardiovascular phenotype
p.Glu3430Ala Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Glu3590= Multiple submitters Cardiovascular phenotype
p.Glu3654= Multiple submitters Cardiovascular phenotype
p.Glu3831Asp Multiple submitters Cardiovascular phenotype
p.Glu3884= Multiple submitters Cardiovascular phenotype
p.Glu3886= Multiple submitters Cardiovascular phenotype
p.Glu540= Multiple submitters Cardiovascular phenotype
p.Gly1821= Multiple submitters long QT syndrome
p.Gly1920= Multiple submitters long QT syndrome
p.Gly2034= Multiple submitters long QT syndrome
p.Gly2209= Multiple submitters Cardiovascular phenotype
p.Gly2235= Multiple submitters Cardiovascular phenotype
p.Gly2394= Multiple submitters Cardiovascular phenotype
p.Gly2643= Multiple submitters Cardiovascular phenotype
p.Gly266= Multiple submitters long QT syndrome
p.Gly2680= Multiple submitters Cardiovascular phenotype
p.Gly2776= Multiple submitters long QT syndrome
p.Gly289= Multiple submitters Cardiovascular phenotype
p.Gly3581= Multiple submitters Cardiovascular phenotype
p.Gly431= Multiple submitters long QT syndrome
p.Gly475= Multiple submitters long QT syndrome
p.Gly54= Multiple submitters Cardiovascular phenotype
p.Gly574= Multiple submitters Cardiovascular phenotype
p.Gly988= Multiple submitters Cardiovascular phenotype
p.His1830= Multiple submitters long QT syndrome
p.His354= Multiple submitters long QT syndrome
p.His3558= Multiple submitters long QT syndrome
p.His370= Multiple submitters long QT syndrome
p.His3745= Multiple submitters long QT syndrome
p.His436= Multiple submitters Cardiovascular phenotype
p.His623= Multiple submitters Cardiovascular phenotype
p.His700= Multiple submitters Cardiovascular phenotype
p.His76= Multiple submitters long QT syndrome
p.His908= Multiple submitters Cardiovascular phenotype
p.Ile1031= Multiple submitters Cardiovascular phenotype
p.Ile1078= Multiple submitters long QT syndrome
p.Ile1157= Multiple submitters Cardiovascular phenotype
p.Ile1551= Multiple submitters long QT syndrome
p.Ile1565= Multiple submitters Cardiovascular phenotype
p.Ile1594Met Multiple submitters Cardiovascular phenotype
p.Ile2595= Multiple submitters Cardiovascular phenotype
p.Ile2924= Multiple submitters long QT syndrome
p.Ile2964= Multiple submitters Cardiovascular phenotype
p.Ile3206= Multiple submitters Cardiovascular phenotype
p.Ile3285= Multiple submitters Cardiovascular phenotype
p.Ile3547= Multiple submitters Cardiovascular phenotype
p.Ile3569= Multiple submitters long QT syndrome
p.Ile3603= Multiple submitters Cardiovascular phenotype
p.Ile3645= Multiple submitters Cardiovascular phenotype
p.Ile3711= Multiple submitters Cardiovascular phenotype
p.Ile536= Multiple submitters long QT syndrome
p.Ile807= Multiple submitters Cardiovascular phenotype
p.Ile827= Multiple submitters long QT syndrome
p.Leu116= Multiple submitters long QT syndrome
p.Leu1210= Multiple submitters Cardiovascular phenotype
p.Leu1358= Multiple submitters Cardiovascular phenotype
p.Leu2088= Multiple submitters Cardiovascular phenotype
p.Leu210= Multiple submitters Cardiovascular phenotype
p.Leu2124= Multiple submitters Cardiovascular phenotype
p.Leu2144= Multiple submitters Cardiovascular phenotype
p.Leu2164= Multiple submitters long QT syndrome
p.Leu2527= Multiple submitters Cardiovascular phenotype
p.Leu2673= Multiple submitters Cardiovascular phenotype
p.Leu2850= Multiple submitters long QT syndrome
p.Leu3157= Multiple submitters Cardiovascular phenotype
p.Leu3182= Multiple submitters long QT syndrome
p.Leu3200Phe Multiple submitters Cardiovascular phenotype
p.Leu3330= Multiple submitters long QT syndrome
p.Leu3519= Multiple submitters Cardiovascular phenotype
p.Leu352= Multiple submitters Cardiovascular phenotype
p.Leu3616= Multiple submitters Cardiovascular phenotype
p.Leu3633= Multiple submitters long QT syndrome
p.Leu3760= Multiple submitters Cardiovascular phenotype
p.Leu385= Multiple submitters Cardiovascular phenotype
p.Leu44= Multiple submitters Cardiovascular phenotype
p.Leu448= Multiple submitters Cardiovascular phenotype
p.Leu534= Multiple submitters Cardiovascular phenotype
p.Leu83= Multiple submitters Cardiovascular phenotype
p.Leu881= Multiple submitters Cardiovascular phenotype
p.Leu916= Multiple submitters Cardiovascular phenotype
p.Leu947= Multiple submitters long QT syndrome
p.Lys1665= Multiple submitters long QT syndrome
p.Lys1877= Multiple submitters long QT syndrome
p.Lys1959= Multiple submitters long QT syndrome
p.Lys1971= Multiple submitters Cardiovascular phenotype
p.Lys206= Multiple submitters Cardiovascular phenotype
p.Lys2612= Multiple submitters Cardiovascular phenotype
p.Lys639= Multiple submitters Cardiovascular phenotype
p.Lys997= Multiple submitters Cardiovascular phenotype
p.Phe1109= Multiple submitters Cardiovascular phenotype
p.Phe16= Multiple submitters long QT syndrome
p.Phe2011= Multiple submitters Cardiovascular phenotype
p.Phe2936= Multiple submitters long QT syndrome
p.Phe3015= Multiple submitters Cardiovascular phenotype
p.Phe440= Multiple submitters Cardiovascular phenotype
p.Pro1453= Multiple submitters Cardiovascular phenotype
p.Pro1501= Multiple submitters long QT syndrome
p.Pro1615= Multiple submitters long QT syndrome
p.Pro1747Arg Multiple submitters Cardiovascular phenotype
p.Pro1859= Multiple submitters Cardiovascular phenotype
p.Pro2035= Multiple submitters Cardiovascular phenotype
p.Pro2057= Multiple submitters Cardiovascular phenotype
p.Pro2214Leu Multiple submitters Cardiovascular phenotype
p.Pro2383= Multiple submitters Cardiovascular phenotype
p.Pro2484= Multiple submitters Cardiovascular phenotype
p.Pro26= Multiple submitters Cardiovascular phenotype
p.Pro2626Leu Multiple submitters Cardiovascular phenotype
p.Pro2694= Multiple submitters Cardiovascular phenotype
p.Pro2696= Multiple submitters Cardiovascular phenotype
p.Pro3158= Multiple submitters Cardiovascular phenotype
p.Pro3213= Multiple submitters Cardiovascular phenotype
p.Pro3245= Multiple submitters Cardiovascular phenotype
p.Pro3791= Multiple submitters Cardiovascular phenotype
p.Pro3832= Multiple submitters Cardiovascular phenotype
p.Pro391= Multiple submitters long QT syndrome
p.Pro401= Multiple submitters Cardiovascular phenotype
p.Ser10Asn Multiple submitters Cardiovascular phenotype
p.Ser1161= Multiple submitters Cardiovascular phenotype
p.Ser1310= Multiple submitters Cardiovascular phenotype
p.Ser1402= Multiple submitters Cardiovascular phenotype
p.Ser1429= Multiple submitters long QT syndrome
p.Ser157= Multiple submitters Cardiovascular phenotype
p.Ser1871= Multiple submitters Cardiovascular phenotype
p.Ser1919= Multiple submitters Cardiovascular phenotype
p.Ser2133= Multiple submitters Cardiovascular phenotype
p.Ser2195= Multiple submitters long QT syndrome
p.Ser2415= Multiple submitters long QT syndrome
p.Ser2440= Multiple submitters long QT syndrome
p.Ser2526= Multiple submitters long QT syndrome
p.Ser2621= Multiple submitters long QT syndrome
p.Ser2622= Multiple submitters long QT syndrome
p.Ser2655= Multiple submitters Cardiovascular phenotype
p.Ser2911= Multiple submitters Cardiovascular phenotype
p.Ser2938= Multiple submitters long QT syndrome
p.Ser2986= Multiple submitters Cardiovascular phenotype
p.Ser3013= Multiple submitters long QT syndrome
p.Ser3165= Multiple submitters Cardiovascular phenotype
p.Ser3196= Multiple submitters Cardiovascular phenotype
p.Ser3209= Multiple submitters Cardiovascular phenotype
p.Ser3243= Multiple submitters long QT syndrome
p.Ser34= Multiple submitters long QT syndrome
p.Ser3680= Multiple submitters long QT syndrome
p.Ser3754= Multiple submitters Cardiovascular phenotype
p.Ser3818= Multiple submitters Cardiovascular phenotype
p.Ser547= Multiple submitters Cardiovascular phenotype
p.Ser621= Multiple submitters long QT syndrome
p.Ser670= Multiple submitters Cardiovascular phenotype
p.Ser691= Multiple submitters long QT syndrome
p.Ser808= Multiple submitters Cardiovascular phenotype
p.Ser877= Multiple submitters Cardiovascular phenotype
p.Thr1269= Multiple submitters Cardiovascular phenotype
p.Thr1420= Multiple submitters Cardiovascular phenotype
p.Thr1570= Multiple submitters Cardiovascular phenotype
p.Thr160= Multiple submitters long QT syndrome
p.Thr1801= Multiple submitters Cardiovascular phenotype
p.Thr1945Ser Multiple submitters Cardiovascular phenotype
p.Thr1981= Multiple submitters Cardiovascular phenotype
p.Thr2049= Multiple submitters Cardiovascular phenotype

Uncertain significance 2157

Showing the top 300 by review status; the full set is in the sitemap.

c.11032+11G>T Multiple submitters cardiac arrhythmia, ankyrin-B-related
c.11611-3T>A Multiple submitters Cardiovascular phenotype
c.1783-3C>T Multiple submitters Cardiovascular phenotype
c.2079+5T>G Multiple submitters Cardiovascular phenotype
c.2278-3C>T Multiple submitters long QT syndrome
c.2900+5141G>A Multiple submitters cardiac arrhythmia, ankyrin-B-related
c.2900+5143G>A Multiple submitters cardiac arrhythmia, ankyrin-B-related
c.2901-3del Multiple submitters Cardiovascular phenotype
c.3125+6G>A Multiple submitters long QT syndrome
c.693+6G>A Multiple submitters long QT syndrome
c.792+4T>C Multiple submitters Cardiovascular phenotype
c.85-3C>T Multiple submitters long QT syndrome
c.85-57022A>C Multiple submitters ANK2-related disorder
c.*1950C>A Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Ala1152Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala1214Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala1255Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala1540Pro Multiple submitters long QT syndrome ⚠
p.Ala1744Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala1772Thr Multiple submitters Cardiovascular phenotype
p.Ala178Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala178Val Multiple submitters long QT syndrome ⚠
p.Ala1869Val Multiple submitters long QT syndrome ⚠
p.Ala200Thr Multiple submitters Cardiovascular phenotype
p.Ala2062Gly Multiple submitters long QT syndrome ⚠
p.Ala209Ser Multiple submitters Brugada syndrome ⚠
p.Ala2347Thr Multiple submitters long QT syndrome ⚠
p.Ala2348Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala2387Ser Multiple submitters long QT syndrome ⚠
p.Ala2430Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala2754Val Multiple submitters complex neurodevelopmental disorder ⚠
p.Ala2914Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala3054Val Multiple submitters long QT syndrome
p.Ala306Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ala3251Asp Multiple submitters Cardiovascular phenotype ⚠
p.Ala3394Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala3432Ser Multiple submitters long QT syndrome ⚠
p.Ala3485Thr Multiple submitters long QT syndrome
p.Ala3510Ser Multiple submitters long QT syndrome
p.Ala3628Ser Multiple submitters long QT syndrome ⚠
p.Ala373Val Multiple submitters long QT syndrome ⚠
p.Ala3852Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala38Val Multiple submitters long QT syndrome ⚠
p.Ala393Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala39Ser Multiple submitters long QT syndrome
p.Ala41Gly Multiple submitters Cardiovascular phenotype
p.Ala41Thr Multiple submitters ANK2-related disorder ⚠
p.Ala455Asp Multiple submitters cardiac arrhythmia, ankyrin-B-related ⚠
p.Ala467Ser Multiple submitters Cardiovascular phenotype
p.Ala492Thr Multiple submitters long QT syndrome ⚠
p.Ala504Val Multiple submitters long QT syndrome ⚠
p.Ala525Val Multiple submitters long QT syndrome ⚠
p.Ala538Val Multiple submitters Cardiovascular phenotype
p.Ala555Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala570Thr Multiple submitters long QT syndrome ⚠
p.Ala571Ser Multiple submitters Cardiovascular phenotype
p.Ala579Thr Multiple submitters Cardiovascular phenotype
p.Ala589Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala703Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala735Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala756Thr Multiple submitters Cardiovascular phenotype
p.Ala789Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala799Val Multiple submitters long QT syndrome ⚠
p.Ala93Thr Multiple submitters Cardiovascular phenotype ⚠
p.Arg1007Gln Multiple submitters Cardiovascular phenotype
p.Arg1029Cys Multiple submitters Cardiovascular phenotype
p.Arg1029His Multiple submitters Cardiovascular phenotype
p.Arg1062His Multiple submitters long QT syndrome
p.Arg1088Gln Multiple submitters long QT syndrome
p.Arg1098His Multiple submitters Cardiovascular phenotype
p.Arg1145Gln Multiple submitters Cardiovascular phenotype
p.Arg1191Gln Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Arg1191Trp Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Arg1193Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg1305Gln Multiple submitters long QT syndrome ⚠
p.Arg1418Cys Multiple submitters long QT syndrome
p.Arg1418His Multiple submitters Cardiovascular phenotype
p.Arg1673Gly Multiple submitters long QT syndrome ⚠
p.Arg1784Gln Multiple submitters long QT syndrome ⚠
p.Arg1913Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg1936Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg2106Gly Multiple submitters long QT syndrome ⚠
p.Arg2154His Multiple submitters long QT syndrome ⚠
p.Arg2274Cys Multiple submitters long QT syndrome ⚠
p.Arg2416Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg2416Gly Multiple submitters long QT syndrome ⚠
p.Arg2506Gln Multiple submitters long QT syndrome
p.Arg2508Gln Multiple submitters Cardiovascular phenotype
p.Arg255Gln Multiple submitters Cardiovascular phenotype
p.Arg2688Gln Multiple submitters long QT syndrome ⚠
p.Arg276Lys Multiple submitters Cardiovascular phenotype
p.Arg3049Gln Multiple submitters long QT syndrome
p.Arg3049Trp Multiple submitters long QT syndrome
p.Arg3058His Multiple submitters long QT syndrome
p.Arg3113Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg3122Thr Multiple submitters long QT syndrome ⚠
p.Arg321Trp Multiple submitters Cardiovascular phenotype
p.Arg3408Gln Multiple submitters cardiac arrhythmia, ankyrin-B-related ⚠
p.Arg3408Gly Multiple submitters Cardiovascular phenotype
p.Arg3408Leu Multiple submitters long QT syndrome
p.Arg3418Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg3549Cys Multiple submitters long QT syndrome ⚠
p.Arg379His Multiple submitters Cardiovascular phenotype
p.Arg3842Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg388Lys Multiple submitters long QT syndrome ⚠
p.Arg3906Gln Multiple submitters long QT syndrome
p.Arg3942His Multiple submitters long QT syndrome ⚠
p.Arg463His Multiple submitters Cardiovascular phenotype
p.Arg473Gln Multiple submitters long QT syndrome
p.Arg481Gln Multiple submitters Cardiovascular phenotype
p.Arg506His Multiple submitters long QT syndrome
p.Arg539Gln Multiple submitters long QT syndrome
p.Arg539Trp Multiple submitters long QT syndrome
p.Arg586Cys Multiple submitters long QT syndrome
p.Arg586Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg895Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg942Ser Multiple submitters long QT syndrome ⚠
p.Arg946His Multiple submitters Cardiovascular phenotype ⚠
p.Arg982Gln Multiple submitters long QT syndrome
p.Arg990Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg996Gln Multiple submitters Cardiovascular phenotype
p.Arg996Trp Multiple submitters long QT syndrome
p.Asn1162Ser Multiple submitters long QT syndrome
p.Asn122Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn155Thr Multiple submitters Cardiovascular phenotype
p.Asn185Lys Multiple submitters long QT syndrome
p.Asn2047Lys Multiple submitters long QT syndrome ⚠
p.Asn2702Ile Multiple submitters long QT syndrome ⚠
p.Asn2702Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn3554Tyr Multiple submitters Cardiovascular phenotype
p.Asn3607Ser Multiple submitters long QT syndrome
p.Asn392Tyr Multiple submitters long QT syndrome ⚠
p.Asn3955Asp Multiple submitters Cardiovascular phenotype ⚠
p.Asn3956Asp Multiple submitters Cardiovascular phenotype
p.Asn640Lys Multiple submitters Cardiovascular phenotype
p.Asn640Ser Multiple submitters long QT syndrome
p.Asn656Lys Multiple submitters Cardiovascular phenotype
p.Asn795Thr Multiple submitters complex neurodevelopmental disorder ⚠
p.Asp1125His Multiple submitters Cardiovascular phenotype ⚠
p.Asp1133Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp11Val Multiple submitters Cardiovascular phenotype
p.Asp1352Glu Multiple submitters Cardiovascular phenotype
p.Asp1352Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp1946Asn Multiple submitters long QT syndrome ⚠
p.Asp2148Tyr Multiple submitters long QT syndrome
p.Asp2185Gly Multiple submitters long QT syndrome ⚠
p.Asp2199His Multiple submitters Cardiovascular phenotype ⚠
p.Asp2299His Multiple submitters Cardiovascular phenotype ⚠
p.Asp2512Val Multiple submitters long QT syndrome ⚠
p.Asp2539Gly Multiple submitters Cardiovascular phenotype
p.Asp2572Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp2610Tyr Multiple submitters Cardiovascular phenotype
p.Asp2756Tyr Multiple submitters long QT syndrome ⚠
p.Asp2907Val Multiple submitters Cardiovascular phenotype ⚠
p.Asp2921Glu Multiple submitters long QT syndrome ⚠
p.Asp3126Asn Multiple submitters Cardiovascular phenotype
p.Asp3197Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp3246Asn Multiple submitters long QT syndrome ⚠
p.Asp3275Asn Multiple submitters Cardiovascular phenotype
p.Asp3340Glu Multiple submitters long QT syndrome ⚠
p.Asp3483Asn Multiple submitters long QT syndrome 1
p.Asp3592Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asp3611Asn Multiple submitters Cardiovascular phenotype
p.Asp3644Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp3726Val Multiple submitters long QT syndrome ⚠
p.Asp3863Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp3863Tyr Multiple submitters long QT syndrome ⚠
p.Asp3873Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp905Asn Multiple submitters long QT syndrome
p.Asp91Asn Multiple submitters Cardiovascular phenotype
p.Asp923Val Multiple submitters cardiac arrhythmia, ankyrin-B-related ⚠
p.Cys1666Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Cys2568Tyr Multiple submitters long QT syndrome ⚠
p.Cys2839Gly Multiple submitters Cardiovascular phenotype ⚠
p.Cys2890Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Cys3244Arg Multiple submitters Cardiovascular phenotype ⚠
p.Cys3636Arg Multiple submitters Cardiovascular phenotype
p.Cys3687Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln1308Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln1465Lys Multiple submitters Cardiovascular phenotype ⚠
p.Gln1688Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln1712His Multiple submitters Cardiovascular phenotype ⚠
p.Gln1712Lys Multiple submitters long QT syndrome ⚠
p.Gln177Leu Multiple submitters Cardiovascular phenotype
p.Gln2125Pro Multiple submitters Cardiovascular phenotype
p.Gln2407His Multiple submitters long QT syndrome ⚠
p.Gln2607Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln2672His Multiple submitters ANK2-associated Complex Neurodevelopmental Disorder ⚠
p.Gln2872Lys Multiple submitters Cardiovascular phenotype ⚠
p.Gln3064Glu Multiple submitters long QT syndrome
p.Gln3369Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln3827Arg Multiple submitters long QT syndrome
p.Gln3925Pro Multiple submitters Cardiovascular phenotype
p.Gln476Arg Multiple submitters long QT syndrome ⚠
p.Gln518His Multiple submitters Cardiovascular phenotype
p.Gln671Lys Multiple submitters Cardiovascular phenotype
p.Gln782Arg Multiple submitters long QT syndrome ⚠
p.Glu1362Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu1433Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu1466Val Multiple submitters Cardiovascular phenotype
p.Glu151Ala Multiple submitters long QT syndrome
p.Glu1553Gly Multiple submitters long QT syndrome
p.Glu1590Ala Multiple submitters Cardiovascular phenotype
p.Glu1618Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu1630Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu1653Asp Multiple submitters long QT syndrome ⚠
p.Glu1934Gly Multiple submitters long QT syndrome ⚠
p.Glu1986Gly Multiple submitters long QT syndrome ⚠
p.Glu2107Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu2118Lys Multiple submitters long QT syndrome ⚠
p.Glu2368Lys Multiple submitters long QT syndrome ⚠
p.Glu2419Lys Multiple submitters long QT syndrome
p.Glu2602Gly Multiple submitters Cardiovascular phenotype
p.Glu2644Asp Multiple submitters long QT syndrome ⚠
p.Glu2669Val Multiple submitters cardiac arrhythmia, ankyrin-B-related ⚠
p.Glu2728Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu2969Gly Multiple submitters long QT syndrome ⚠
p.Glu2989Gln Multiple submitters long QT syndrome ⚠
p.Glu3062Gly Multiple submitters long QT syndrome ⚠
p.Glu3137Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu3141Gly Multiple submitters Cardiovascular phenotype
p.Glu3160Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu3286Lys Multiple submitters long QT syndrome
p.Glu3422Lys Multiple submitters long QT syndrome ⚠
p.Glu3430Gln Multiple submitters long QT syndrome ⚠
p.Glu3650Gln Multiple submitters cardiac arrhythmia, ankyrin-B-related ⚠
p.Glu3658Lys Multiple submitters long QT syndrome
p.Glu3666Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu3702Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu3715Gln Multiple submitters Cardiovascular phenotype
p.Glu3771Asp Multiple submitters long QT syndrome ⚠
p.Glu3800Ala Multiple submitters Cardiovascular phenotype ⚠
p.Glu3800Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu3834Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu3837Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu3850Lys Multiple submitters Cardiovascular phenotype
p.Glu3885Asp Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Glu3950Lys Multiple submitters long QT syndrome ⚠
p.Glu860Ala Multiple submitters long QT syndrome
p.Gly1023Glu Multiple submitters long QT syndrome
p.Gly1025Val Multiple submitters Cardiovascular phenotype
p.Gly1211Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly1439Val Multiple submitters Cardiovascular phenotype
p.Gly1530Ala Multiple submitters long QT syndrome ⚠
p.Gly1718Val Multiple submitters long QT syndrome ⚠
p.Gly2034Arg Multiple submitters cardiac arrhythmia, ankyrin-B-related ⚠
p.Gly2209Glu Multiple submitters long QT syndrome ⚠
p.Gly2293Val Multiple submitters long QT syndrome ⚠
p.Gly2408Arg Multiple submitters
p.Gly256Ala Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Gly2676Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly2792Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly299Ala Multiple submitters long QT syndrome
p.Gly3135Val Multiple submitters Cardiovascular phenotype ⚠
p.Gly3150Arg Multiple submitters Cardiovascular phenotype
p.Gly3238Cys Multiple submitters long QT syndrome ⚠
p.Gly3376Arg Multiple submitters long QT syndrome
p.Gly3871Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly3892Arg Multiple submitters long QT syndrome
p.Gly3912= Multiple submitters Cardiovascular phenotype
p.Gly475Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly487Cys Multiple submitters Cardiovascular phenotype ⚠
p.Gly530Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly53Ala Multiple submitters cardiac arrhythmia, ankyrin-B-related ⚠
p.Gly53Trp Multiple submitters long QT syndrome
p.Gly54Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly673Val Multiple submitters long QT syndrome ⚠
p.Gly685Ala Multiple submitters Cardiovascular phenotype
p.Gly685Val Multiple submitters Cardiovascular phenotype ⚠
p.Gly739Ala Multiple submitters long QT syndrome ⚠
p.Gly761Ser Multiple submitters Cardiovascular phenotype
p.Gly950Asp Multiple submitters Cardiovascular phenotype
p.Gly967Arg Multiple submitters Cardiovascular phenotype
p.His1398Tyr Multiple submitters Cardiovascular phenotype
p.His1830Arg Multiple submitters long QT syndrome ⚠
p.His1948Gln Multiple submitters cardiac arrhythmia, ankyrin-B-related ⚠
p.His2449Gln Multiple submitters Cardiovascular phenotype ⚠
p.His2950Tyr Multiple submitters cardiac arrhythmia, ankyrin-B-related ⚠
p.His3579Asp Multiple submitters long QT syndrome ⚠
p.His3614Arg Multiple submitters Cardiovascular phenotype ⚠
p.His556Arg Multiple submitters long QT syndrome ⚠
p.His601Asn Multiple submitters Cardiovascular phenotype ⚠
p.His700Asp Multiple submitters long QT syndrome ⚠
p.His912Arg Multiple submitters cardiac conduction defect
p.His912Tyr Multiple submitters long QT syndrome
p.Ile1139Leu Multiple submitters Cardiovascular phenotype
p.Ile1142Leu Multiple submitters Cardiovascular phenotype
p.Ile2126Asn Multiple submitters long QT syndrome
p.Ile3287Phe Multiple submitters Cardiovascular phenotype
p.Ile3437Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile3475Val Multiple submitters cardiac arrhythmia, ankyrin-B-related
p.Ile3603Val Multiple submitters long QT syndrome ⚠
p.Ile3667Val Multiple submitters Cardiovascular phenotype
p.Ile3711Val Multiple submitters long QT syndrome ⚠
p.Ile3717Asn Multiple submitters long QT syndrome
p.Ile427Val Multiple submitters long QT syndrome ⚠
p.Ile635Val Multiple submitters Cardiovascular phenotype
p.Ile657Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile688Asn Multiple submitters long QT syndrome
p.Ile776Val Multiple submitters Cardiovascular phenotype ⚠