CTNNA3 — 1173 ClinVar variants

All ClinVar germline CTNNA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 622 flagged for review →

2 Pathogenic · 3 Likely pathogenic · 22 Conflicting · 77 Benign · 23 Benign/Likely benign · 350 Likely benign · 696 Uncertain significance

Full CTNNA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 622

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 agree, ClinVar conflicts 12

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

CTNNA3 p.Ala474Val Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg646His Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asp440Asn Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asp802Tyr Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Gln257Arg Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Gln260Arg Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.His419Arg Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ile411Val Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Leu601Phe Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Leu858Ser Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ser52Leu Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Val398Ile Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 13

Predictors lean, ClinVar uncertain 342

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 342

CTNNA3 p.Ala139Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala165Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala224Pro Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala255Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala312Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala315Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala416Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala468Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala660Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala678Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala767Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg126Gly Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg191Cys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg191His Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg201Lys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg208Gln Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg325Gln Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg336Cys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg336Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg484His Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg526Lys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg543Gln Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg628Gln Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asn250Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asn261Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asn333Lys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asp316Gly Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asp372Asn Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asp391Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asp679Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asp71Glu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Cys225Phe Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Cys225Tyr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Cys433Trp Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Cys709Gly Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Cys709Trp Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Cys709Tyr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Gln14Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Gln193Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Gln652Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Gln784Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Gln893Lys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Glu244Lys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Glu294Lys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Glu408Lys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Glu63Asp Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Gly441Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Gly553Cys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Gly561Glu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.His150Tyr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.His513Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.His618Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.His843Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ile204Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ile296Met Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ile31Lys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ile328Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ile329Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ile442Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ile500Phe Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ile673Phe Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Leu138Ile Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Leu464Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Leu525Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Leu814Phe Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Lys612Asn Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Lys681Glu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Lys831Asn Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Lys855Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Lys877Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Met141Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Met708Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Met745Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Met847Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Phe108Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Pro198Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Pro265Leu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Pro266Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Pro44Ala Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Pro6Ala Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Pro6Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Pro853Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ser318Pro Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ser557Gly Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ser597Leu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ser739Pro Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Thr290Ile Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Thr292Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Thr320Met Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Thr358Asn Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Thr35Asn Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Thr552Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Thr867Met Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Thr867Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Thr88Met Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Tyr895Cys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Val121Glu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Val144Ala Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Val151Leu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Val385Ala Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Val428Met Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Val547Ile Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Val551Ile Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Val567Ala Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Val586Gly Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Val62Leu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Val645Leu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 c.1048-151703G>A Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala105Ser Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala127Ser Uncertain significance Single submitter
CTNNA3 p.Ala139Glu Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala232Pro Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala236Val Uncertain significance Single submitter
CTNNA3 p.Ala270Pro Uncertain significance Single submitter
CTNNA3 p.Ala270Thr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala271Thr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala315Glu Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala330Thr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala338Pro Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala350Ser Uncertain significance Single submitter
CTNNA3 p.Ala350Thr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala402Asp Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala416Thr Uncertain significance Single submitter
CTNNA3 p.Ala429Val Uncertain significance Single submitter
CTNNA3 p.Ala537Val Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala548Val Uncertain significance Single submitter
CTNNA3 p.Ala65Gly Uncertain significance Single submitter
CTNNA3 p.Ala660Thr Uncertain significance Single submitter
CTNNA3 p.Ala668Glu Uncertain significance Single submitter
CTNNA3 p.Ala678Ser Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala734Glu Uncertain significance Single submitter
CTNNA3 p.Ala77Ser Uncertain significance Single submitter
CTNNA3 p.Ala839Gly Uncertain significance Single submitter
CTNNA3 p.Ala852Ser Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala852Thr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg156Gly Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg303His Uncertain significance Single submitter
CTNNA3 p.Arg325Pro Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg336Gly Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg336His Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg336Leu Uncertain significance Single submitter
CTNNA3 p.Arg355Lys Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg375Lys Uncertain significance Single submitter
CTNNA3 p.Arg407Gln Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg484Ser Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg51Ser Uncertain significance Single submitter
CTNNA3 p.Arg543Leu Uncertain significance Single submitter
CTNNA3 p.Arg543Trp Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg628Pro Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg628Trp Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13

Predictors split 268

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 268

CTNNA3 p.Ala124Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala131Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala188Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala330Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala338Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala350Pro Uncertain significance Multiple submitters
congenital heart disease
CTNNA3 p.Ala465Pro Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala508Asp Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala524Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala544Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala592Gly Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala592Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala810Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala828Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg126Cys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg303Cys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg327Gln Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg327Trp Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg374Cys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg378His Benign/Likely benign Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg407Trp Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg51Cys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg51His Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg535Cys Benign/Likely benign Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg535His Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg750Gly Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg750Trp Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg95His Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg95Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asn365Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asn461Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asp12Tyr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asp364Gly Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asp527Asn Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asp602Tyr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asp608His Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asp635Asn Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asp700Asn Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Cys521Gly Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Cys622Tyr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Gln458Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Gln790Glu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Glu159Gln Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Glu487Lys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Glu559Lys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Glu591Lys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Glu634Gly Uncertain significance Multiple submitters
CTNNA3 p.Glu654Lys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Glu669Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Gly258Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Gly793Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Gly793Glu Likely benign Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ile142Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ile284Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ile382Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ile490Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ile503Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ile540Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ile691Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ile859Phe Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Leu218Phe Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Leu397Phe Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Leu399Ile Benign/Likely benign Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Leu796Phe Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Lys611Glu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Lys706Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Met435Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Met824Ile Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Met850Ile Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Phe154Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Phe889Leu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Pro216Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Pro580Leu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ser215Phe Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ser256Leu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ser760Pro Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ser783Gly Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ser799Pro Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ser803Gly Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Thr552Met Benign/Likely benign Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Thr575Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Tyr768His Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Val151Gly Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Val23Met Uncertain significance Multiple submitters
congenital heart disease
CTNNA3 p.Val241Leu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Val497Ile Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Val624Leu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala105Val Uncertain significance Single submitter
CTNNA3 p.Ala120Thr Uncertain significance Single submitter
CTNNA3 p.Ala124Val Uncertain significance Single submitter
CTNNA3 p.Ala125Gly Uncertain significance Single submitter
CTNNA3 p.Ala125Ser Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala125Thr Uncertain significance Single submitter
CTNNA3 p.Ala127Asp Uncertain significance Single submitter
CTNNA3 p.Ala130Pro Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala153Pro Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala207Ser Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala224Gly Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala236Pro Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala306Val Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala334Thr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala334Val Uncertain significance Single submitter
CTNNA3 p.Ala338Gly Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala415Val Uncertain significance Single submitter
CTNNA3 p.Ala449Gly Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala449Thr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala524Gly Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala548Ser Uncertain significance Single submitter
CTNNA3 p.Ala592Asp Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala674Asp Uncertain significance Single submitter
CTNNA3 p.Ala689Val Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Ala811Ser Uncertain significance Single submitter
CTNNA3 p.Arg126His Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg297Gln Uncertain significance Single submitter
CTNNA3 p.Arg374His Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg378Cys Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg484Cys Likely benign Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg541Gly Uncertain significance Single submitter
CTNNA3 p.Arg54Thr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg628Leu Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg646Cys Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg744Ser Uncertain significance Single submitter
CTNNA3 p.Arg834Gly Uncertain significance Single submitter
CTNNA3 p.Arg834Leu Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg842Trp Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg861Gly Uncertain significance Single submitter
CTNNA3 p.Arg861Thr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg872Ser Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg95Cys Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Arg95Leu Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asn166Asp Uncertain significance Single submitter
CTNNA3 p.Asn166Ser Uncertain significance Single submitter
CTNNA3 p.Asn287Ile Uncertain significance Single submitter
CTNNA3 p.Asn365Asp Uncertain significance Single submitter
CTNNA3 p.Asn438Lys Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asn450Asp Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asn477Lys Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asn519Thr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asn532Lys Uncertain significance Single submitter
CTNNA3 p.Asn587Lys Uncertain significance Single submitter
CTNNA3 p.Asn754His Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asn754Ile Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asp169His Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asp185Tyr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asp239Gly Uncertain significance Single submitter
CTNNA3 p.Asp341Gly Uncertain significance Single submitter
CTNNA3 p.Asp341Tyr Uncertain significance Single submitter
CTNNA3 p.Asp391Asn Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asp529Glu Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 13
CTNNA3 p.Asp529Tyr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 13

All CTNNA3 variants

Pathogenic 2

p.Leu766del No assertion criteria arrhythmogenic right ventricular dysplasia 13
p.Val94Asp No assertion criteria arrhythmogenic right ventricular dysplasia 13

Likely pathogenic 3

c.2159+2T>C Single submitter arrhythmogenic right ventricular dysplasia 13
p.Arg54fs Single submitter long QT syndrome
p.Lys856fs No assertion criteria urinary bladder cancer

Conflicting classifications of pathogenicity 22

c.1281+4A>G Single submitter arrhythmogenic right ventricular dysplasia 13
p.Ala153Pro Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala474Val Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg378Cys Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg646Cys Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg646His Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg842Trp Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asn477Lys Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asp440Asn Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asp529Glu Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asp802Tyr Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Gln257Arg Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Gln260Arg Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Glu634Lys Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.His419Arg Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ile411Val Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Leu601Phe Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Leu858Ser Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Met435Val Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ser52Leu Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Val241Ala Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Val398Ile Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠

Benign 77

c.1047+3461C>T Multiple submitters
c.1281+173A>G Multiple submitters
c.1281+197A>G Multiple submitters
c.1282-79A>G Multiple submitters
c.1531+16T>C Multiple submitters arrhythmogenic right ventricular dysplasia 13
c.1532-32C>T Multiple submitters
c.2266-10T>G Multiple submitters arrhythmogenic right ventricular dysplasia 13
c.292+13A>G Multiple submitters arrhythmogenic right ventricular dysplasia 13
c.293-19A>T Multiple submitters arrhythmogenic right ventricular dysplasia 13
c.459+69G>A Multiple submitters
c.460-13T>C Multiple submitters arrhythmogenic right ventricular dysplasia 13
c.579+105G>C Multiple submitters
c.579+15T>G Multiple submitters arrhythmogenic right ventricular dysplasia 13
c.843+17A>G Multiple submitters arrhythmogenic right ventricular dysplasia 13
c.843+22G>C Multiple submitters
c.99+11C>T Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ala131= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ala530Ser Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Asn349= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Asp529_Ala530delinsGluSer Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Pro116= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Val624= Multiple submitters arrhythmogenic right ventricular dysplasia 13
c.100-270T>C Single submitter
c.100-41dup Single submitter
c.1048-12dup Single submitter arrhythmogenic right ventricular dysplasia 13
c.1128+113dup Single submitter
c.1128+262C>G Single submitter
c.1281+18601C>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.1374+88dup Single submitter
c.1375-144_1375-141del Single submitter
c.1375-199C>T Single submitter
c.1375-267G>T Single submitter
c.1531+178G>A Single submitter
c.1532-279G>C Single submitter
c.1732+188A>G Single submitter
c.1732+275A>G Single submitter
c.1733-217dup Single submitter
c.1977+18G>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1978-298G>A Single submitter
c.1978-9A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.2159+15A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.2160-19T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.2160-292G>A Single submitter
c.2160-304G>A Single submitter
c.2160-5del Single submitter arrhythmogenic right ventricular dysplasia 13
c.2265+160G>A Single submitter
c.2400+206T>A Single submitter
c.2401-11T>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.2401-203A>G Single submitter
c.2401-289A>G Single submitter
c.2401-293G>T Single submitter
c.292+236T>C Single submitter
c.293-291T>C Single submitter
c.460-161T>C Single submitter
c.460-322C>T Single submitter
c.460-324T>G Single submitter
c.579+306G>A Single submitter
c.580-225C>T Single submitter
c.580-300G>T Single submitter
c.580-51T>A Single submitter
c.843+164A>T Single submitter
c.843+323A>G Single submitter
c.844-15G>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.99+218T>C Single submitter
c.99+239TA[13] Single submitter
c.99+239TA[14] Single submitter
c.99+239TA[16] Single submitter
c.99+239TA[19] Single submitter
c.99+239TA[8] Single submitter
c.99+239TA[9] Single submitter
c.-5-1035G>A Single submitter
c.-5-1528A>G Single submitter
c.-5-232T>G Single submitter
c.-5-255T>G Single submitter
c.*15A>C Single submitter
c.*243G>A Single submitter
p.Ala248Ser Single submitter arrhythmogenic right ventricular dysplasia 13

Benign/Likely benign 23

c.2401-23dup Multiple submitters arrhythmogenic right ventricular dysplasia 13
c.580-8C>T Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ala474= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ala80= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Arg378His Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg535Cys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg720= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Asn405= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Asp143= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Glu714= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.His643= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ile11= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ile711= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Leu129= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Leu161= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Leu399Ile Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Lys851= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Pro724= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ser160Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ser596Asn Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Thr133= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Thr485Ser Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Thr552Met Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠

Likely benign 350

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

c.1128+38G>A Multiple submitters
c.1129-22T>C Multiple submitters
c.1885-122G>A Multiple submitters
c.1885-9T>C Multiple submitters arrhythmogenic right ventricular dysplasia 13
c.1978-9_1978-8del Multiple submitters arrhythmogenic right ventricular dysplasia 13
c.2266-98T>C Multiple submitters
c.-5-1241G>A Multiple submitters
p.Ala139= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ala255= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ala315= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ala416= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ala496= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ala539= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ala55= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ala678= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ala735= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ala753= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ala876= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Arg191= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Arg424= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Arg750= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Arg872= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Asn333= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Asn570= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Asn699= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Asp608= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Cys756= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Gln778= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Glu244= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Glu345= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Glu487= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Glu565= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Glu63= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Glu654= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Glu675= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Gly310= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Gly793Glu Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.His150Arg Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.His384= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ile329= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ile381= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ile522= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ile550= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Leu135= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Leu218= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Leu26= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Leu283= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Leu289= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Leu687= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Leu87= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Leu883= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Lys612= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Lys75= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Pro298= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Pro6= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Pro841= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Pro844= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ser160= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ser2= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ser233= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ser256= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ser318= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ser52= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ser739= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Thr173= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Thr20= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Thr22= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Thr264= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Thr290= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Thr392= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Thr393= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Thr485= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Thr564= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Thr616= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Thr657= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Thr8= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Tyr558= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Tyr826= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Val394= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Val426= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Val492= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Val497= Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Val600= Multiple submitters arrhythmogenic right ventricular dysplasia 13
c.100-119C>T Single submitter
c.100-15T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1047+3462C>T Single submitter
c.1047+3683G>C Single submitter
c.1047+9C>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.1048-18G>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.1048-19C>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.1128+14G>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.1128+16G>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.1128+16G>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1128+18T>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1128+8A>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1129-11T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1129-17T>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1129-18T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1129-3C>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1129-44T>C Single submitter
c.1281+12A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1281+14A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1281+291T>C Single submitter
c.1282-13G>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1282-16T>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.1282-16T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1282-18T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1282-4T>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1282-6T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1374+10C>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.1374+10C>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.1374+12_1374+13del Single submitter arrhythmogenic right ventricular dysplasia 13
c.1374+14G>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1374+17A>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1374+247C>T Single submitter
c.1374+284C>A Single submitter
c.1374+9A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1375-10A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1375-14C>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.1375-15T>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.1375-168T>G Single submitter
c.1531+10T>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1531+114G>A Single submitter
c.1531+12T>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.1531+163C>T Single submitter
c.1531+17T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1531+9T>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1532-12A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1532-7C>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.1732+13C>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1732+16A>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1732+16A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1732+20C>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1732+8A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1733-18T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1733-20C>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.1884+10C>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.1884+20C>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.1884+242A>G Single submitter
c.1884+7T>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1884+9G>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.1884+9G>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.1885-11T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1885-12T>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1885-16T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1885-19T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1885-3T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1885-4A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1885-7T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1977+12C>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1977+14A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1977+9C>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.1978-11A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1978-12C>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.1978-17A>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1978-7G>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.2159+13A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.2159+15A>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.2159+18G>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.2160-10T>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.2160-12A>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.2160-14A>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.2160-5dup Single submitter
c.2265+14A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.2265+16G>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.2265+8A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.2266-206T>A Single submitter
c.2266-4T>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.2400+13T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.2400+13T>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.2400+18C>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.2401-166C>T Single submitter
c.2401-17C>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.2401-18T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.2401-4del Single submitter arrhythmogenic right ventricular dysplasia 13
c.2401-5T>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.2401-86C>T Single submitter
c.292+19G>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.292+19G>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.292+19G>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.293-10T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.293-20T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.293-245C>G Single submitter
c.459+17_459+31del Single submitter arrhythmogenic right ventricular dysplasia 13
c.459+19A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.459+8A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.460-11T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.460-291A>G Single submitter
c.460-4T>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.460-9C>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.579+15T>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.580-14A>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.580-16T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.580-20del Single submitter arrhythmogenic right ventricular dysplasia 13
c.580-59152G>A Single submitter
c.580-6T>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.843+12G>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.843+12G>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.843+7C>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.843+8G>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.843+9G>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.844-10C>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.844-14T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.99+12A>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.99+20T>G Single submitter arrhythmogenic right ventricular dysplasia 13
p.Ala125= Single submitter
p.Ala205= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Ala276= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Ala415= Single submitter
p.Ala462= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Ala467= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Ala508= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Ala537= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Ala592= Single submitter
p.Ala77= Single submitter
p.Ala854= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Arg126= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Arg297= Single submitter
p.Arg303= Single submitter
p.Arg327= Single submitter
p.Arg374= Single submitter
p.Arg407= Single submitter
p.Arg47= Single submitter
p.Arg484Cys Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg541= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Arg628= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Arg744= Single submitter
p.Arg873= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Arg890= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Arg892= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Asn163= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Asn183= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Asn365= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Asn39= Single submitter
p.Asn791= Single submitter
p.Asn813= Single submitter
p.Asp12= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Asp140= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Asp372= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Asp391= Single submitter
p.Asp531= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Asp619= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Asp696= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Asp85= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Asp85Glu Single submitter
p.Cys433= Single submitter
p.Cys622= Single submitter
p.Cys761= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Gln123= Single submitter
p.Gln605= Single submitter
p.Gln676= Single submitter
p.Gln78= Single submitter
p.Gln809= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Gln820= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Glu159= Single submitter
p.Glu180= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Glu279= Single submitter
p.Glu294= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Glu86= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Gly258= Single submitter
p.Gly274= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Gly50= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Gly538= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Gly655= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Gly742= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Gly794= Single submitter
p.His421= Single submitter arrhythmogenic right ventricular dysplasia 13
p.His489= Single submitter
p.His618= Single submitter arrhythmogenic right ventricular dysplasia 13
p.His648= Single submitter
p.His777= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Ile204= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Ile259= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Ile361= Single submitter
p.Ile503= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Ile540= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Ile617Thr Single submitter arrhythmogenic right ventricular dysplasia 13
p.Ile651= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Leu16= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Leu170= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Leu195= Single submitter
p.Leu211= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Leu300= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Leu304= Single submitter
p.Leu399= Single submitter
p.Leu455= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Leu59= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Leu598= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Leu633= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Leu765= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Leu796= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Leu807= Single submitter
p.Leu858= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Lys212= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Lys412= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Lys483= Single submitter
p.Lys520= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Lys686= Single submitter arrhythmogenic right ventricular dysplasia 13
p.Lys706= Single submitter
p.Lys72= Single submitter arrhythmogenic right ventricular dysplasia 13

Uncertain significance 696

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

c.1733-1G>C Multiple submitters arrhythmogenic right ventricular dysplasia 13
c.2265+1del Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ala124Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala131Val Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala139Val Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala165Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala188Val Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala224Pro Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala255Val Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala312Val Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala315Val Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala330Val Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala338Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala350Pro Multiple submitters congenital heart disease ⚠
p.Ala416Val Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala465Pro Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala468Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala508Asp Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala524Ser Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala544Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala592Gly Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala592Ser Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala660Val Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala678Val Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala767Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala810Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala828Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg126Cys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg126Gly Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg191Cys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg191His Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg201Lys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg208Gln Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg208Ter Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Arg303Cys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg325Gln Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg327Gln Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg327Trp Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg336Cys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg336Ser Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg374Cys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg407Trp Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg484His Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg51Cys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg51His Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg526Lys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg535His Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg543Gln Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg628Gln Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg750Gly Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg750Trp Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg95His Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg95Ser Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asn250Ser Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asn261Ser Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asn333Lys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asn365Ser Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asn461Ser Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asp12Tyr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asp316Gly Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asp364Gly Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asp372Asn Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asp391Val Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asp527Asn Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asp602Tyr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asp608His Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asp635Asn Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asp679Val Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asp700Asn Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Asp71Glu Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Cys225Phe Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Cys225Tyr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Cys433Trp Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Cys521Gly Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Cys622Tyr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Cys709Gly Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Cys709Trp Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Cys709Tyr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Gln14Arg Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Gln193Arg Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Gln458Arg Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Gln652Arg Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Gln784Arg Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Gln78Ter Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Gln790Glu Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Gln893Lys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Glu159Gln Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Glu244Lys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Glu294Lys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Glu408Lys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Glu487Lys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Glu559Lys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Glu591Lys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Glu634Gly Multiple submitters ⚠
p.Glu63Asp Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Glu654Lys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Glu669Val Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Gly258Arg Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Gly441Arg Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Gly553Cys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Gly561Glu Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Gly793Arg Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.His150Tyr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.His324fs Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.His513Arg Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.His618Arg Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.His843Arg Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ile142Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ile204Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ile284Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ile296Met Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ile31Lys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ile328Val Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ile329Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ile382Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ile442Val Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ile490Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ile500Phe Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ile503Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ile540Val Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ile673Phe Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ile691Val Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ile859Phe Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ile880fs Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Leu138Ile Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Leu218Phe Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Leu397Phe Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Leu464Val Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Leu525Ser Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Leu796Phe Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Leu814Phe Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Lys611Glu Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Lys612Asn Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Lys681Glu Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Lys706Arg Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Lys831Asn Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Lys855Arg Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Lys877Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Met141Val Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Met435Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Met708Val Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Met745Arg Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Met824Ile Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Met847Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Met850Ile Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Phe108Ser Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Phe154Ser Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Phe889Leu Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Pro198Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Pro216Ser Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Pro265Leu Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Pro266Ser Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Pro44Ala Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Pro580Leu Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Pro6Ala Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Pro6Ser Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Pro853Thr Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Pro857fs Multiple submitters arrhythmogenic right ventricular dysplasia 13
p.Ser215Phe Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ser256Leu Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ser318Pro Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ser557Gly Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ser597Leu Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ser739Pro Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ser760Pro Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ser783Gly Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ser799Pro Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ser803Gly Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Thr290Ile Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Thr292Ser Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Thr320Met Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Thr358Asn Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Thr35Asn Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Thr552Arg Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Thr575Arg Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Thr867Met Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Thr867Ser Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Thr88Met Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Tyr768His Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Tyr895Cys Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Val121Glu Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Val144Ala Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Val151Gly Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Val151Leu Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Val23Met Multiple submitters congenital heart disease ⚠
p.Val241Leu Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Val385Ala Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Val428Met Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Val497Ile Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Val547Ile Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Val551Ile Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Val567Ala Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Val586Gly Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Val624Leu Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Val62Leu Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
p.Val645Leu Multiple submitters arrhythmogenic right ventricular dysplasia 13 ⚠
c.100-1G>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.100-7A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1047+3A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1048-151703G>A Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
c.1048-3C>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.1048-7T>C Single submitter
c.1128+2T>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.1128+2T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1128+3del Single submitter arrhythmogenic right ventricular dysplasia 13
c.1128+4A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1128+7G>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.1282-780_1531+54046del Single submitter arrhythmogenic right ventricular dysplasia 13
c.1375-16A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1531+1G>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.1531+5G>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.1532_1884del Single submitter arrhythmogenic right ventricular dysplasia 13
c.1532-1G>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.1732+6T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1733-2A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.1733-3C>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.1884+1G>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.1884+5G>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.1977+1G>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.1977+6T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.1978-3T>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.2159+5T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.2265+1G>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.2265+2T>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.2265+2T>G Single submitter
c.2400+5G>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.292+12_292+13delinsGG Single submitter arrhythmogenic right ventricular dysplasia 13
c.292+3G>A Single submitter arrhythmogenic right ventricular dysplasia 13
c.577_579+11dup Single submitter arrhythmogenic right ventricular dysplasia 13
c.843+1G>T Single submitter arrhythmogenic right ventricular dysplasia 13
c.844-17A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.844-2A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.844-5C>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.844-6T>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.99+3A>G Single submitter arrhythmogenic right ventricular dysplasia 13
c.99+5T>C Single submitter arrhythmogenic right ventricular dysplasia 13
c.-5-1250G>T Single submitter congenital heart disease
p.Ala105Ser Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala105Val Single submitter ⚠
p.Ala120Thr Single submitter ⚠
p.Ala124Val Single submitter ⚠
p.Ala125Gly Single submitter ⚠
p.Ala125Ser Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala125Thr Single submitter ⚠
p.Ala127Asp Single submitter ⚠
p.Ala127Ser Single submitter ⚠
p.Ala130Pro Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala139Glu Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala207Ser Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala224Gly Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala232Pro Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala236Pro Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala236Val Single submitter ⚠
p.Ala270Pro Single submitter ⚠
p.Ala270Thr Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala271Thr Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala306Val Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala315Glu Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala330Thr Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala334Thr Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala334Val Single submitter ⚠
p.Ala338Gly Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala338Pro Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala350Ser Single submitter ⚠
p.Ala350Thr Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala402Asp Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala415Val Single submitter ⚠
p.Ala416Thr Single submitter ⚠
p.Ala429Val Single submitter ⚠
p.Ala449Gly Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala449Thr Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala524Gly Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala537Val Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala548Ser Single submitter ⚠
p.Ala548Val Single submitter ⚠
p.Ala592Asp Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala65Gly Single submitter ⚠
p.Ala660Thr Single submitter ⚠
p.Ala668Glu Single submitter ⚠
p.Ala674Asp Single submitter ⚠
p.Ala678Ser Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala689Val Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala734Glu Single submitter ⚠
p.Ala735Thr Single submitter arrhythmogenic right ventricular dysplasia 13
p.Ala77Ser Single submitter ⚠
p.Ala811fs Single submitter arrhythmogenic right ventricular dysplasia 13
p.Ala811Ser Single submitter ⚠
p.Ala839Gly Single submitter ⚠
p.Ala852Ser Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Ala852Thr Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg126His Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg156Gly Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg297Gln Single submitter ⚠
p.Arg297Ter Single submitter arrhythmogenic right ventricular dysplasia 13
p.Arg303His Single submitter ⚠
p.Arg325Pro Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg325Ter Single submitter arrhythmogenic right ventricular dysplasia 13
p.Arg336Gly Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg336His Single submitter arrhythmogenic right ventricular dysplasia 13 ⚠
p.Arg336Leu Single submitter ⚠