JUP — 1432 ClinVar variants

All ClinVar germline JUP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 689 flagged for review →

27 Pathogenic · 13 Likely pathogenic · 155 Conflicting · 37 Benign · 34 Benign/Likely benign · 462 Likely benign · 704 Uncertain significance

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

⚑ Evidence disagreements 689

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 69

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

JUP p.Ala187Val Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Ala221Thr Conflicting Single submitter
Cardiovascular phenotype
JUP p.Ala30Thr Conflicting Single submitter
Cardiovascular phenotype
JUP p.Ala628Thr Conflicting Single submitter
Naxos disease
JUP p.Ala645Thr Conflicting Single submitter
Cardiovascular phenotype
JUP p.Arg176Trp Conflicting Single submitter
Cardiovascular phenotype
JUP p.Arg177Gln Conflicting Single submitter
Naxos disease
JUP p.Arg203Cys Conflicting Single submitter
non-syndromic arrhythmogenic right ventricular cardiomyopathy
JUP p.Arg203His Conflicting Single submitter
Cardiovascular phenotype
JUP p.Arg320Cys Conflicting Single submitter
Cardiovascular phenotype
JUP p.Arg320His Conflicting Single submitter
Cardiovascular phenotype
JUP p.Arg444His Conflicting Single submitter
Cardiovascular phenotype
JUP p.Arg477His Conflicting Single submitter
Cardiovascular phenotype
JUP p.Arg526Cys Conflicting Single submitter
Cardiovascular phenotype
JUP p.Arg702His Conflicting Single submitter
Naxos disease
JUP p.Arg84Gln Conflicting Single submitter
Cardiovascular phenotype
JUP p.Arg86Gln Conflicting Single submitter
Cardiovascular phenotype
JUP p.Asn112Ser Conflicting Single submitter
Cardiovascular phenotype
JUP p.Asn309Ser Conflicting Single submitter
Cardiovascular phenotype
JUP p.Asn406Ser Conflicting Single submitter
Cardiovascular phenotype
JUP p.Asn690Ser Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Asp153Asn Conflicting Single submitter
Cardiovascular phenotype
JUP p.Asp622Val Conflicting Single submitter
Cardiovascular phenotype
JUP p.Asp708Asn Conflicting Single submitter
Cardiovascular phenotype
JUP p.Asp727Asn Conflicting Single submitter
Cardiovascular phenotype
JUP p.Asp731Asn Conflicting Single submitter
Naxos disease
JUP p.Gln317Pro Conflicting Single submitter
Cardiovascular phenotype
JUP p.Glu138Lys Conflicting Single submitter
Cardiovascular phenotype
JUP p.Glu301Gly Conflicting Single submitter
JUP-related disorder
JUP p.Glu453Asp Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Glu45Asp Conflicting Single submitter
Naxos disease
JUP p.Gly227Asp Conflicting Single submitter
Cardiovascular phenotype
JUP p.Gly310Ser Conflicting Single submitter
Cardiovascular phenotype
JUP p.Gly92Asp Conflicting Single submitter
Naxos disease
JUP p.Ile165Val Conflicting Single submitter
Cardiovascular phenotype
JUP p.Ile442Phe Conflicting Single submitter
Cardiovascular phenotype
JUP p.Ile621Thr Conflicting Single submitter
Cardiovascular phenotype
JUP p.Leu270Gln Conflicting Single submitter
Cardiovascular phenotype
JUP p.Lys345Asn Conflicting Single submitter
Cardiovascular phenotype
JUP p.Lys674Arg Conflicting Single submitter
Cardiovascular phenotype
JUP p.Met575Ile Conflicting Single submitter
Cardiovascular phenotype
JUP p.Met720Val Conflicting Single submitter
Cardiovascular phenotype
JUP p.Met76Ile Conflicting Single submitter
Cardiovascular phenotype
JUP p.Pro119Leu Conflicting Single submitter
Cardiovascular phenotype
JUP p.Pro145Ser Conflicting Single submitter
Naxos disease
JUP p.Pro66Leu Conflicting Single submitter
Cardiovascular phenotype
JUP p.Pro66Ser Conflicting Single submitter
Naxos disease
JUP p.Pro710Ser Conflicting Single submitter
Naxos disease
JUP p.Pro736Leu Conflicting Single submitter
Cardiovascular phenotype
JUP p.Ser170Leu Conflicting Single submitter
Cardiovascular phenotype
JUP p.Ser182Leu Conflicting Single submitter
Cardiovascular phenotype
JUP p.Ser391Asn Conflicting Single submitter
Cardiovascular phenotype
JUP p.Ser39Gly Conflicting Single submitter
Cardiovascular phenotype
JUP p.Ser595Leu Conflicting Single submitter
Naxos disease
JUP p.Ser730Asn Conflicting Single submitter
Naxos disease
JUP p.Ser99Leu Conflicting Single submitter
Naxos disease
JUP p.Thr427Met Conflicting Single submitter
Cardiovascular phenotype
JUP p.Thr739Ala Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Tyr256His Conflicting Single submitter
Cardiovascular phenotype
JUP p.Tyr701Cys Conflicting Single submitter
Cardiovascular phenotype
JUP p.Val190Met Conflicting Single submitter
Cardiovascular phenotype
JUP p.Val232Ile Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Val402Met Conflicting Single submitter
Cardiovascular phenotype
JUP p.Val405Ile Conflicting Single submitter
Cardiovascular phenotype
JUP p.Val456Ile Conflicting Single submitter
Cardiovascular phenotype
JUP p.Val528Ile Conflicting Single submitter
Cardiovascular phenotype
JUP p.Val542Ile Conflicting Single submitter
Cardiovascular phenotype
JUP p.Val603Leu Conflicting Single submitter
Cardiovascular phenotype
JUP p.Val648Ile Conflicting Single submitter
Cardiovascular phenotype

Predictors lean, ClinVar uncertain 440

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 440

JUP p.Ala110Val Uncertain significance Multiple submitters
Naxos disease
JUP p.Ala163Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Ala178Val Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ala187Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Ala263Val Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ala296Ser Uncertain significance Multiple submitters
Naxos disease
JUP p.Ala314Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ala445Pro Uncertain significance Multiple submitters
Naxos disease
JUP p.Ala48Asp Uncertain significance Multiple submitters
Naxos disease
JUP p.Ala509Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Ala522Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ala522Val Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ala544Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Ala566Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ala571Ser Uncertain significance Multiple submitters
Naxos disease
JUP p.Ala571Thr Uncertain significance Multiple submitters
Naxos disease
JUP p.Ala620Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Ala623Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ala626Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ala80Thr Uncertain significance Multiple submitters
Naxos disease
JUP p.Arg142Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Arg191His Uncertain significance Multiple submitters
Naxos disease
JUP p.Arg216Gln Uncertain significance Multiple submitters
Naxos disease
JUP p.Arg216Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Arg233His Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Arg265Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Arg265His Uncertain significance Multiple submitters
Naxos disease
JUP p.Arg333Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Arg333His Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Arg367Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Arg367Leu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Arg377Cys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Arg377Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Arg444Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Arg460Cys Uncertain significance Multiple submitters
Naxos disease
JUP p.Arg460His Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Arg465His Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Arg477Cys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Arg51Cys Uncertain significance Multiple submitters
Naxos disease
JUP p.Arg51His Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Arg51Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Arg572Trp Uncertain significance Multiple submitters
Naxos disease
JUP p.Arg577Cys Uncertain significance Multiple submitters
Naxos disease
JUP p.Arg577His Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Arg582Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Arg602Cys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Arg637Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Arg661Trp Uncertain significance Multiple submitters
Naxos disease
JUP p.Arg702Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Asn152Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Asn252Asp Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Asn278Ser Uncertain significance Multiple submitters
Naxos disease
JUP p.Asn309Ile Uncertain significance Multiple submitters
Naxos disease
JUP p.Asn371Lys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Asn425Asp Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Asn490Lys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Asn507Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Asn638Thr Uncertain significance Multiple submitters
Naxos disease
JUP p.Asp136Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Asp136His Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Asp198Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Asp268Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Asp404Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Asp695Gly Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Asp71Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Asp721Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Cys420Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Cys609Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Gln105His Uncertain significance Multiple submitters
Naxos disease
JUP p.Gln168Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Gln18His Uncertain significance Multiple submitters
Naxos disease
JUP p.Gln317His Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Gln431Arg Uncertain significance Multiple submitters
Naxos disease
JUP p.Gln494Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Gln494His Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Gln519Glu Uncertain significance Multiple submitters
dilated cardiomyopathy
JUP p.Gln536Glu Uncertain significance Multiple submitters
Naxos disease
JUP p.Gln548Glu Uncertain significance Multiple submitters
Naxos disease
JUP p.Glu146Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Glu436Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Glu47Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Glu639Lys Uncertain significance Multiple submitters
Naxos disease
JUP p.Glu96Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Gly181Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Gly311Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Gly41Asp Uncertain significance Multiple submitters
Naxos disease
JUP p.Gly434Ser Uncertain significance Multiple submitters
Naxos disease
JUP p.Gly50Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Gly553Val Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Gly565Arg Uncertain significance Multiple submitters
Naxos disease
JUP p.Gly606Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Gly606Glu Uncertain significance Multiple submitters
Naxos disease
JUP p.Gly732Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Gly92Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.His541Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.His717Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ile127Val Uncertain significance Multiple submitters
Naxos disease
JUP p.Ile208Val Uncertain significance Multiple submitters
Naxos disease
JUP p.Ile287Val Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ile505Val Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ile569Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Leu122Pro Uncertain significance Multiple submitters
Naxos disease
JUP p.Leu231Pro Uncertain significance Multiple submitters
Naxos disease
JUP p.Leu255Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Leu295Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Leu415Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Leu592Val Uncertain significance Multiple submitters
Naxos disease
JUP p.Leu593Gln Uncertain significance Multiple submitters
Naxos disease
JUP p.Leu711Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Lys171Arg Uncertain significance Multiple submitters
Naxos disease
JUP p.Lys283Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Lys499Gln Uncertain significance Multiple submitters
Naxos disease
JUP p.Lys83Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Met164Val Uncertain significance Multiple submitters
Naxos disease
JUP p.Met43Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Met704Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Met716Val Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Met718Thr Uncertain significance Multiple submitters
Naxos disease
JUP p.Met743Val Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Met76Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Met7Ile Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Phe244Ser Uncertain significance Multiple submitters
Naxos disease
JUP p.Pro156Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Pro183Ser Uncertain significance Multiple submitters
Naxos disease
JUP p.Pro366Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Pro366Thr Uncertain significance Multiple submitters
Naxos disease
JUP p.Pro467Leu Uncertain significance Multiple submitters
Naxos disease
JUP p.Pro512Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Pro549His Uncertain significance Multiple submitters
Naxos disease
JUP p.Pro587Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Pro629Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Pro658Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Pro710His Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Pro735Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Pro91Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ser175Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ser241Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ser323Gly Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Ser416Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ser665Pro Uncertain significance Multiple submitters
JUP p.Ser685Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ser68Asn Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Ser730Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ser77Phe Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Ser77Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Thr104Asn Uncertain significance Multiple submitters
Naxos disease
JUP p.Thr19Ala Uncertain significance Multiple submitters
Naxos disease
JUP p.Thr21Asn Uncertain significance Multiple submitters
Naxos disease
JUP p.Thr248Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Thr249Met Uncertain significance Multiple submitters
Cardiovascular phenotype

Predictors split 180

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 180

JUP p.Ala162Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Ala516Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ala566Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ala612Gly Uncertain significance Multiple submitters
Naxos disease
JUP p.Ala617Thr Uncertain significance Multiple submitters
Naxos disease
JUP p.Ala628Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Arg115Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Arg176Leu Uncertain significance Multiple submitters
Naxos disease
JUP p.Arg191Cys Uncertain significance Multiple submitters
Naxos disease
JUP p.Arg191Leu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Arg377His Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Arg540Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Arg572Leu Uncertain significance Multiple submitters
Naxos disease
JUP p.Arg582Pro Uncertain significance Multiple submitters
Naxos disease
JUP p.Arg602His Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Arg663His Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Arg84Gly Uncertain significance Multiple submitters
Naxos disease
JUP p.Arg84Trp Uncertain significance Multiple submitters
JUP-related disorder
JUP p.Asn406Lys Uncertain significance Multiple submitters
Naxos disease
JUP p.Asp23Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Asp290Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Asp552Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Asp659Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
JUP p.Glu258Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Glu654Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Gly446Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.His210Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.His360Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ile165Thr Uncertain significance Multiple submitters
Naxos disease
JUP p.Ile208Met Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Ile318Val Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ile687Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Leu266Val Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Leu357Val Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Leu428Pro Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Leu443Pro Uncertain significance Multiple submitters
Naxos disease
JUP p.Leu497Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Leu504Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Lys12Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Lys261Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Lys615Glu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Met193Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Met273Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Met556Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Phe650Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Pro346Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Pro496Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Ser125Leu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Ser225Leu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Ser24Leu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Ser28Leu Uncertain significance Multiple submitters
Naxos disease
JUP p.Ser343Asn Uncertain significance Multiple submitters
Naxos disease
JUP p.Ser464Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ser596Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Thr330Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Thr546Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Thr643Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Tyr594Asn Uncertain significance Multiple submitters
Naxos disease
JUP p.Val159Ala Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 12
JUP p.Val242Phe Uncertain significance Multiple submitters
JUP-related disorder
JUP p.Val664Met Uncertain significance Multiple submitters
Cardiovascular phenotype
JUP p.Ala143Thr Conflicting Single submitter
Cardiovascular phenotype
JUP p.Ala162Thr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Ala174Val Conflicting Single submitter
Cardiovascular phenotype
JUP p.Ala260Thr Conflicting Single submitter
Naxos disease
JUP p.Ala267Asp Uncertain significance Single submitter
Cardiovascular phenotype
JUP p.Ala286Thr Uncertain significance Single submitter
Naxos disease
JUP p.Ala356Thr Uncertain significance Single submitter
Cardiovascular phenotype
JUP p.Ala458Thr Conflicting Single submitter
Cardiovascular phenotype
JUP p.Ala484Pro Uncertain significance Single submitter
Cardiovascular phenotype
JUP p.Ala605Val Uncertain significance Single submitter
Cardiovascular phenotype
JUP p.Ala617Val Conflicting Single submitter
Cardiovascular phenotype
JUP p.Ala88Asp Uncertain significance Single submitter
Cardiovascular phenotype
JUP p.Arg233Cys Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Arg526Ser Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Arg540Leu Uncertain significance Single submitter
Naxos disease
JUP p.Arg572Gln Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Arg582Leu Uncertain significance Single submitter
JUP p.Arg637Cys Conflicting Single submitter
Cardiovascular phenotype
JUP p.Arg661Gln Conflicting Single submitter
Cardiovascular phenotype
JUP p.Asn167Lys Uncertain significance Single submitter
Naxos disease
JUP p.Asn211Lys Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Asn309Lys Uncertain significance Single submitter
Cardiovascular phenotype
JUP p.Asn421Ser Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Asn599Ser Uncertain significance Single submitter
Naxos disease
JUP p.Asn638His Conflicting Single submitter
Cardiovascular phenotype
JUP p.Asp200Ala Uncertain significance Single submitter
Naxos disease
JUP p.Asp200Gly Uncertain significance Single submitter
Naxos disease
JUP p.Asp23Glu Uncertain significance Single submitter
Cardiovascular phenotype
JUP p.Asp403Tyr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Asp450Asn Conflicting Single submitter
Cardiovascular phenotype
JUP p.Asp622Glu Uncertain significance Single submitter
Cardiovascular phenotype
JUP p.Asp622His Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Asp659Asn Uncertain significance Single submitter
Naxos disease
JUP p.Asp719His Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Gln168His Uncertain significance Single submitter
Naxos disease
JUP p.Gln300Arg Uncertain significance Single submitter
Naxos disease
JUP p.Gln317Leu Conflicting Single submitter
Cardiovascular phenotype
JUP p.Gln601His Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Gln684Leu Uncertain significance Single submitter
JUP p.Glu154Lys Conflicting Single submitter
Cardiovascular phenotype
JUP p.Glu258Gln Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Glu350Gly Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Glu387Lys Uncertain significance Single submitter
JUP p.Glu436Lys Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Glu624Gln Uncertain significance Single submitter
Naxos disease
JUP p.Glu624Gly Uncertain significance Single submitter
Naxos disease
JUP p.Glu632Gly Uncertain significance Single submitter
Naxos disease
JUP p.Gly25Ser Uncertain significance Single submitter
Cardiovascular phenotype
JUP p.Gly298Ser Conflicting Single submitter
Cardiovascular phenotype
JUP p.Gly358Arg Uncertain significance Single submitter
Naxos disease
JUP p.Gly503Ser Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Gly606Ala Uncertain significance Single submitter
Cardiovascular phenotype
JUP p.Gly625Arg Uncertain significance Single submitter
Cardiovascular phenotype
JUP p.Gly640Asp Uncertain significance Single submitter
JUP p.His214Tyr Uncertain significance Single submitter
JUP p.His541Pro Uncertain significance Single submitter
Cardiovascular phenotype
JUP p.His568Tyr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Ile228Val Conflicting Single submitter
Cardiovascular phenotype
JUP p.Ile569Leu Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Ile652Val Uncertain significance Single submitter
Naxos disease
JUP p.Leu169Val Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Leu220Pro Uncertain significance Single submitter
Naxos disease
JUP p.Leu231Val Uncertain significance Single submitter
Cardiovascular phenotype
JUP p.Leu270Met Uncertain significance Single submitter
Cardiovascular phenotype
JUP p.Leu294Phe Uncertain significance Single submitter
Cardiovascular phenotype
JUP p.Leu408Phe Conflicting Single submitter
Cardiovascular phenotype
JUP p.Leu478Phe Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Leu510Val Uncertain significance Single submitter
Cardiovascular phenotype
JUP p.Leu649Val Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Leu668Phe Uncertain significance Single submitter
Naxos disease
JUP p.Leu672His Uncertain significance Single submitter
Naxos disease
JUP p.Lys224Met Uncertain significance Single submitter
JUP p.Lys385Gln Uncertain significance Single submitter
JUP p.Lys533Glu Uncertain significance Single submitter
Naxos disease
JUP p.Lys656Arg Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Met180Arg Uncertain significance Single submitter
Cardiovascular phenotype
JUP p.Met193Thr Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Met234Val Uncertain significance Single submitter
Naxos disease
JUP p.Met273Leu Uncertain significance Single submitter
Naxos disease
JUP p.Met319Ile Uncertain significance Single submitter
Cardiovascular phenotype
JUP p.Met631Ile Uncertain significance Single submitter
JUP p.Met631Lys Uncertain significance Single submitter
Naxos disease
JUP p.Met631Val Uncertain significance Single submitter
Cardiovascular phenotype
JUP p.Met89Lys Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Met89Thr Conflicting Single submitter
Cardiovascular phenotype
JUP p.Pro275His Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Pro467His Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12
JUP p.Pro587Ser Uncertain significance Single submitter
Naxos disease
JUP p.Pro677Gln Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 12

All JUP variants

Pathogenic 27

p.Trp680fs Multiple submitters arrhythmogenic right ventricular dysplasia 12
c.910-1G>C Single submitter Palmoplantar keratodermas
p.Ala178fs Single submitter Naxos disease
p.Ala230fs Single submitter Naxos disease
p.Ala618fs Single submitter Naxos disease
p.Ala626fs Single submitter Naxos disease
p.Cys291Ter Single submitter Naxos disease
p.Cys420fs Single submitter arrhythmogenic right ventricular dysplasia 12
p.Gln17Ter Single submitter arrhythmogenic right ventricular dysplasia 12
p.Gln547Ter Single submitter arrhythmogenic right ventricular dysplasia 12
p.Gln63fs Single submitter Naxos disease
p.Glu624Ter Single submitter Naxos disease
p.Leu219fs Single submitter arrhythmogenic right ventricular dysplasia 12
p.Leu376fs Single submitter arrhythmogenic right ventricular dysplasia 12
p.Lys261fs Single submitter Naxos disease
p.Lys615Ter Single submitter arrhythmogenic right ventricular dysplasia 12
p.Ser182Ter Single submitter arrhythmogenic right ventricular dysplasia 12
p.Ser595fs Single submitter Naxos disease
p.Ser68fs Single submitter arrhythmogenic right ventricular dysplasia 12
p.Trp374Ter Single submitter arrhythmogenic right ventricular dysplasia 12
p.Trp680Ter Single submitter Naxos disease
p.Tyr74Ter Single submitter Naxos disease
p.Val402fs Single submitter arrhythmogenic right ventricular dysplasia 12
p.Val486fs Single submitter arrhythmogenic right ventricular dysplasia 12
p.Val603fs Single submitter arrhythmogenic right ventricular dysplasia 12
p.Gln539Ter No assertion criteria Naxos disease
p.Ser24Ter No assertion criteria Naxos disease

Likely pathogenic 13

c.1158+1G>T Single submitter Naxos disease
c.1654-2A>G Single submitter Naxos disease
c.208+1G>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.209-118_662del Single submitter arrhythmogenic right ventricular dysplasia 12
c.910-2A>G Single submitter JUP-related disorder
p.Ala143fs Single submitter JUP-related disorder
p.Arg377fs Single submitter
p.Arg477fs Single submitter Palmoplantar keratodermas
p.Cys609_Glu610delinsTer Single submitter Naxos disease
p.Gln63Ter Single submitter Naxos disease
p.Glu470Ter Single submitter Naxos disease
p.Ser343fs Single submitter cardiomyopathy
p.Gln431fs No assertion criteria dilated cardiomyopathy

Conflicting classifications of pathogenicity 155

c.1054+7A>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.1497+8T>C Single submitter arrhythmogenic right ventricular dysplasia 12
c.1774-6C>T Single submitter Naxos disease
c.1924+1G>A Single submitter Cardiovascular phenotype
c.2047-14C>G Single submitter Naxos disease
c.2086+13C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.2086+7G>C Single submitter Naxos disease
c.2087-5C>T Single submitter Naxos disease
c.469-12T>C Single submitter Naxos disease
c.708-12C>G Single submitter Naxos disease
c.708-6C>T Single submitter Naxos disease
c.708-7C>T Single submitter Naxos disease
c.909+6C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.-2C>T Single submitter Cardiovascular phenotype
c.-4C>T Single submitter Cardiovascular phenotype
c.*1027G>C Single submitter arrhythmogenic right ventricular dysplasia 12
c.*18C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.*21C>A Single submitter Naxos disease
c.*239G>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.*2C>T Single submitter Cardiovascular phenotype
c.*623G>A Single submitter Naxos disease
c.*853C>T Single submitter Naxos disease
p.Ala143Thr Single submitter Cardiovascular phenotype ⚠
p.Ala174Val Single submitter Cardiovascular phenotype ⚠
p.Ala187Val Single submitter arrhythmogenic right ventricular dysplasia 12 ⚠
p.Ala221Thr Single submitter Cardiovascular phenotype ⚠
p.Ala260Thr Single submitter Naxos disease ⚠
p.Ala267= Single submitter arrhythmogenic right ventricular dysplasia 12
p.Ala30Thr Single submitter Cardiovascular phenotype ⚠
p.Ala347Thr Single submitter Cardiovascular phenotype
p.Ala458Thr Single submitter Cardiovascular phenotype ⚠
p.Ala521= Single submitter Cardiovascular phenotype
p.Ala617Val Single submitter Cardiovascular phenotype ⚠
p.Ala618= Single submitter Cardiovascular phenotype
p.Ala628Thr Single submitter Naxos disease ⚠
p.Ala645Thr Single submitter Cardiovascular phenotype ⚠
p.Arg115Ter Single submitter Cardiovascular phenotype
p.Arg176Trp Single submitter Cardiovascular phenotype ⚠
p.Arg177Gln Single submitter Naxos disease ⚠
p.Arg177Trp Single submitter Cardiovascular phenotype
p.Arg203Cys Single submitter non-syndromic arrhythmogenic right ventricular cardiomyopathy ⚠
p.Arg203His Single submitter Cardiovascular phenotype ⚠
p.Arg320Cys Single submitter Cardiovascular phenotype ⚠
p.Arg320His Single submitter Cardiovascular phenotype ⚠
p.Arg444His Single submitter Cardiovascular phenotype ⚠
p.Arg477His Single submitter Cardiovascular phenotype ⚠
p.Arg526Cys Single submitter Cardiovascular phenotype ⚠
p.Arg540His Single submitter Naxos disease
p.Arg572Gln Single submitter arrhythmogenic right ventricular dysplasia 12 ⚠
p.Arg602= Single submitter Naxos disease
p.Arg637Cys Single submitter Cardiovascular phenotype ⚠
p.Arg661Gln Single submitter Cardiovascular phenotype ⚠
p.Arg702His Single submitter Naxos disease ⚠
p.Arg84Gln Single submitter Cardiovascular phenotype ⚠
p.Arg86Gln Single submitter Cardiovascular phenotype ⚠
p.Asn112Ser Single submitter Cardiovascular phenotype ⚠
p.Asn309Ser Single submitter Cardiovascular phenotype ⚠
p.Asn406= Single submitter Cardiovascular phenotype
p.Asn406Ser Single submitter Cardiovascular phenotype ⚠
p.Asn421Ser Single submitter arrhythmogenic right ventricular dysplasia 12 ⚠
p.Asn638His Single submitter Cardiovascular phenotype ⚠
p.Asn690Ser Single submitter arrhythmogenic right ventricular dysplasia 12 ⚠
p.Asp153Asn Single submitter Cardiovascular phenotype ⚠
p.Asp404= Single submitter arrhythmogenic right ventricular dysplasia 12
p.Asp449= Single submitter arrhythmogenic right ventricular dysplasia 12
p.Asp450Asn Single submitter Cardiovascular phenotype ⚠
p.Asp622Val Single submitter Cardiovascular phenotype ⚠
p.Asp708Asn Single submitter Cardiovascular phenotype ⚠
p.Asp723_Tyr724del Single submitter Cardiovascular phenotype
p.Asp727Asn Single submitter Cardiovascular phenotype ⚠
p.Asp731Asn Single submitter Naxos disease ⚠
p.Gln317Leu Single submitter Cardiovascular phenotype ⚠
p.Gln317Pro Single submitter Cardiovascular phenotype ⚠
p.Gln529= Single submitter Naxos disease
p.Gln539= Single submitter Cardiovascular phenotype
p.Glu107= Single submitter Naxos disease
p.Glu118Lys Single submitter Cardiovascular phenotype
p.Glu138Lys Single submitter Cardiovascular phenotype ⚠
p.Glu154Lys Single submitter Cardiovascular phenotype ⚠
p.Glu173= Single submitter Cardiovascular phenotype
p.Glu301Gly Single submitter JUP-related disorder ⚠
p.Glu453Asp Single submitter arrhythmogenic right ventricular dysplasia 12 ⚠
p.Glu45Asp Single submitter Naxos disease ⚠
p.Gly227Asp Single submitter Cardiovascular phenotype ⚠
p.Gly259= Single submitter arrhythmogenic right ventricular dysplasia 12
p.Gly298Ser Single submitter Cardiovascular phenotype ⚠
p.Gly310Ser Single submitter Cardiovascular phenotype ⚠
p.Gly503Ser Single submitter arrhythmogenic right ventricular dysplasia 12 ⚠
p.Gly640= Single submitter Naxos disease
p.Gly92Asp Single submitter Naxos disease ⚠
p.His215Tyr Single submitter Cardiovascular phenotype
p.Ile165Val Single submitter Cardiovascular phenotype ⚠
p.Ile228Val Single submitter Cardiovascular phenotype ⚠
p.Ile306fs Single submitter Cardiovascular phenotype
p.Ile442Phe Single submitter Cardiovascular phenotype ⚠
p.Ile621Thr Single submitter Cardiovascular phenotype ⚠
p.Ile726= Single submitter arrhythmogenic right ventricular dysplasia 12
p.Leu199fs Single submitter Naxos disease
p.Leu235= Single submitter arrhythmogenic right ventricular dysplasia 12
p.Leu270Gln Single submitter Cardiovascular phenotype ⚠
p.Leu408Phe Single submitter Cardiovascular phenotype ⚠
p.Leu459= Single submitter Cardiovascular phenotype
p.Leu608= Single submitter Naxos disease
p.Leu634= Single submitter Cardiovascular phenotype
p.Lys124Ter Single submitter Cardiovascular phenotype
p.Lys345Asn Single submitter Cardiovascular phenotype ⚠
p.Lys674Arg Single submitter Cardiovascular phenotype ⚠
p.Met193Thr Single submitter arrhythmogenic right ventricular dysplasia 12 ⚠
p.Met575Ile Single submitter Cardiovascular phenotype ⚠
p.Met720Val Single submitter Cardiovascular phenotype ⚠
p.Met76Ile Single submitter Cardiovascular phenotype ⚠
p.Met89Thr Single submitter Cardiovascular phenotype ⚠
p.Pro119Leu Single submitter Cardiovascular phenotype ⚠
p.Pro145Ser Single submitter Naxos disease ⚠
p.Pro156= Single submitter arrhythmogenic right ventricular dysplasia 12
p.Pro156fs Single submitter Naxos disease
p.Pro66Leu Single submitter Cardiovascular phenotype ⚠
p.Pro66Ser Single submitter Naxos disease ⚠
p.Pro677= Single submitter Cardiovascular phenotype
p.Pro677Leu Single submitter Cardiovascular phenotype ⚠
p.Pro710Ser Single submitter Naxos disease ⚠
p.Pro713Leu Single submitter Cardiovascular phenotype ⚠
p.Pro736= Single submitter Cardiovascular phenotype
p.Pro736Leu Single submitter Cardiovascular phenotype ⚠
p.Ser170Leu Single submitter Cardiovascular phenotype ⚠
p.Ser182= Single submitter Cardiovascular phenotype
p.Ser182Leu Single submitter Cardiovascular phenotype ⚠
p.Ser391Asn Single submitter Cardiovascular phenotype ⚠
p.Ser39Gly Single submitter Cardiovascular phenotype ⚠
p.Ser595Leu Single submitter Naxos disease ⚠
p.Ser627Leu Single submitter Cardiovascular phenotype ⚠
p.Ser653= Single submitter Cardiovascular phenotype
p.Ser665= Single submitter Cardiovascular phenotype
p.Ser685= Single submitter arrhythmogenic right ventricular dysplasia 12
p.Ser730Asn Single submitter Naxos disease ⚠
p.Ser99= Single submitter Cardiovascular phenotype
p.Ser99Leu Single submitter Naxos disease ⚠
p.Thr19Ile Single submitter Cardiovascular phenotype ⚠
p.Thr201Ala Single submitter Cardiovascular phenotype ⚠
p.Thr427Met Single submitter Cardiovascular phenotype ⚠
p.Thr739Ala Single submitter arrhythmogenic right ventricular dysplasia 12 ⚠
p.Tyr256His Single submitter Cardiovascular phenotype ⚠
p.Tyr693Cys Single submitter Cardiovascular phenotype ⚠
p.Tyr701Cys Single submitter Cardiovascular phenotype ⚠
p.Val159Leu Single submitter Naxos disease ⚠
p.Val190Met Single submitter Cardiovascular phenotype ⚠
p.Val232Ile Single submitter arrhythmogenic right ventricular dysplasia 12 ⚠
p.Val402Met Single submitter Cardiovascular phenotype ⚠
p.Val405Ile Single submitter Cardiovascular phenotype ⚠
p.Val456Ile Single submitter Cardiovascular phenotype ⚠
p.Val528Ile Single submitter Cardiovascular phenotype ⚠
p.Val542Ile Single submitter Cardiovascular phenotype ⚠
p.Val603Leu Single submitter Cardiovascular phenotype ⚠
p.Val648Ile Single submitter Cardiovascular phenotype ⚠
p.Val666Leu Single submitter Cardiovascular phenotype ⚠

Benign 37

c.1158+178T>C Multiple submitters
c.1653+10C>A Multiple submitters Naxos disease
c.1773+268T>C Multiple submitters
c.1774-34C>A Multiple submitters arrhythmogenic right ventricular dysplasia 12
c.2046+22A>G Multiple submitters arrhythmogenic right ventricular dysplasia 12
c.2047-115T>C Multiple submitters
c.209-220G>A Multiple submitters
c.209-225T>G Multiple submitters
c.469-48C>T Multiple submitters
c.909+17T>C Multiple submitters arrhythmogenic right ventricular dysplasia 12
c.909+49T>C Multiple submitters
c.-88A>G Multiple submitters Naxos disease
c.*225T>C Multiple submitters arrhythmogenic right ventricular dysplasia 12
c.*3G>A Multiple submitters
p.Asp71= Multiple submitters Cardiovascular phenotype
p.Met697Leu Multiple submitters Cardiovascular phenotype
c.1158+344A>G Single submitter
c.1498-220_1498-219dup Single submitter
c.1498-220dup Single submitter
c.1498-252C>T Single submitter
c.1498-6del Single submitter arrhythmogenic right ventricular dysplasia 12
c.2046+169T>C Single submitter
c.2046+180C>T Single submitter
c.2046+190T>C Single submitter
c.2087-113dup Single submitter
c.2087-3del Single submitter arrhythmogenic right ventricular dysplasia 12
c.209-245_209-244dup Single submitter
c.209-245dup Single submitter
c.707+136C>T Single submitter
c.707+290C>T Single submitter
c.708-128A>G Single submitter
c.910-161C>T Single submitter
c.-8-224C>T Single submitter
c.-9+17del Single submitter
c.-9+18del Single submitter
c.-9+19_-9+20del Single submitter
c.-9+4C>G Single submitter

Benign/Likely benign 34

c.1055-14del Multiple submitters Naxos disease
c.1159-13C>A Multiple submitters arrhythmogenic right ventricular dysplasia 12
c.1774-13C>T Multiple submitters Naxos disease
c.1774-16C>T Multiple submitters arrhythmogenic right ventricular dysplasia 12
c.1925-17C>T Multiple submitters arrhythmogenic right ventricular dysplasia 12
c.1925-19T>G Multiple submitters Naxos disease
c.708-3dup Multiple submitters Cardiovascular phenotype
c.708-4C>G Multiple submitters Cardiovascular phenotype
c.*286C>T Multiple submitters arrhythmogenic right ventricular dysplasia 12
c.*669C>T Multiple submitters Naxos disease
c.*709G>C Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Ala174= Multiple submitters Naxos disease
p.Ala455= Multiple submitters Cardiovascular phenotype
p.Ala647= Multiple submitters Cardiovascular phenotype
p.Arg142His Multiple submitters Cardiovascular phenotype
p.Arg176Gln Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Asn211= Multiple submitters Cardiovascular phenotype
p.Asp135= Multiple submitters Cardiovascular phenotype
p.His675= Multiple submitters Cardiovascular phenotype
p.Ile687Val Multiple submitters cardiomyopathy
p.Leu254= Multiple submitters Cardiovascular phenotype
p.Leu315= Multiple submitters Cardiovascular phenotype
p.Leu408= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Leu570= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Ser125= Multiple submitters Cardiovascular phenotype
p.Ser170= Multiple submitters Cardiovascular phenotype
p.Ser175= Multiple submitters Cardiovascular phenotype
p.Ser36= Multiple submitters Cardiovascular phenotype
p.Ser636= Multiple submitters Naxos disease
p.Thr289= Multiple submitters Cardiovascular phenotype
p.Thr427= Multiple submitters Cardiovascular phenotype
p.Tyr22= Multiple submitters Naxos disease
p.Tyr644= Multiple submitters Cardiovascular phenotype
p.Val189= Multiple submitters Cardiovascular phenotype

Likely benign 462

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

c.1055-4C>A Multiple submitters Naxos disease
c.1159-13C>T Multiple submitters arrhythmogenic right ventricular dysplasia 12
c.1159-20G>A Multiple submitters Naxos disease
c.1497+14G>A Multiple submitters Naxos disease
c.1653+18G>A Multiple submitters arrhythmogenic right ventricular dysplasia 12
c.1774-8C>T Multiple submitters Naxos disease
c.1924+14G>T Multiple submitters arrhythmogenic right ventricular dysplasia 12
c.1924+18A>C Multiple submitters arrhythmogenic right ventricular dysplasia 12
c.1924+8G>C Multiple submitters arrhythmogenic right ventricular dysplasia 12
c.1924+8G>T Multiple submitters Naxos disease
c.1925-38C>T Multiple submitters
c.2047-11T>C Multiple submitters arrhythmogenic right ventricular dysplasia 12
c.2047-14C>T Multiple submitters Naxos disease
c.2086+14G>A Multiple submitters arrhythmogenic right ventricular dysplasia 12
c.2087-18C>T Multiple submitters arrhythmogenic right ventricular dysplasia 12
c.209-8G>A Multiple submitters Naxos disease
c.469-16del Multiple submitters Naxos disease
c.707+14C>T Multiple submitters Naxos disease
c.707+20G>A Multiple submitters arrhythmogenic right ventricular dysplasia 12
c.708-9C>T Multiple submitters Naxos disease
c.-8-261G>A Multiple submitters
c.-8-66C>T Multiple submitters
c.*14A>C Multiple submitters
p.Ala137= Multiple submitters Cardiovascular phenotype
p.Ala162= Multiple submitters Cardiovascular phenotype
p.Ala314= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Ala437= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Ala469= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Ala484= Multiple submitters Cardiovascular phenotype
p.Ala522= Multiple submitters Cardiovascular phenotype
p.Ala605= Multiple submitters Cardiovascular phenotype
p.Ala617= Multiple submitters Cardiovascular phenotype
p.Ala628= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Ala646= Multiple submitters Cardiovascular phenotype
p.Ala682= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Ala740= Multiple submitters Naxos disease
p.Ala82= Multiple submitters Cardiovascular phenotype
p.Arg216= Multiple submitters Naxos disease
p.Arg460= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Arg465= Multiple submitters Naxos disease
p.Arg582= Multiple submitters Cardiovascular phenotype
p.Arg637His Multiple submitters Naxos disease
p.Arg663= Multiple submitters Naxos disease
p.Arg86= Multiple submitters Cardiovascular phenotype
p.Asn152= Multiple submitters Cardiovascular phenotype
p.Asn364= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Asn432= Multiple submitters Cardiovascular phenotype
p.Asn490= Multiple submitters Cardiovascular phenotype
p.Asn638= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Asp136= Multiple submitters Cardiovascular phenotype
p.Asp153= Multiple submitters Cardiovascular phenotype
p.Asp268= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Asp290= Multiple submitters Cardiovascular phenotype
p.Asp619= Multiple submitters Cardiovascular phenotype
p.Asp731= Multiple submitters Cardiovascular phenotype
p.Cys33= Multiple submitters Cardiovascular phenotype
p.Cys457= Multiple submitters Cardiovascular phenotype
p.Cys49= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Gln105= Multiple submitters Cardiovascular phenotype
p.Gln271= Multiple submitters Cardiovascular phenotype
p.Gln547= Multiple submitters Cardiovascular phenotype
p.Glu138= Multiple submitters Cardiovascular phenotype
p.Gly218= Multiple submitters Cardiovascular phenotype
p.Gly29= Multiple submitters Cardiovascular phenotype
p.Gly503= Multiple submitters Cardiovascular phenotype
p.Gly64= Multiple submitters Cardiovascular phenotype
p.Gly70= Multiple submitters Cardiovascular phenotype
p.Gly95= Multiple submitters Cardiovascular phenotype
p.His360= Multiple submitters Cardiovascular phenotype
p.His535= Multiple submitters Cardiovascular phenotype
p.His541= Multiple submitters Cardiovascular phenotype
p.Ile208= Multiple submitters Naxos disease
p.Ile439= Multiple submitters Cardiovascular phenotype
p.Ile485= Multiple submitters Naxos disease
p.Ile502= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Ile652= Multiple submitters Naxos disease
p.Leu116= Multiple submitters Cardiovascular phenotype
p.Leu151= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Leu231= Multiple submitters Cardiovascular phenotype
p.Leu266= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Leu276= Multiple submitters Naxos disease
p.Leu277= Multiple submitters Cardiovascular phenotype
p.Leu338= Multiple submitters Cardiovascular phenotype
p.Leu376= Multiple submitters Cardiovascular phenotype
p.Leu389= Multiple submitters Cardiovascular phenotype
p.Leu443= Multiple submitters Cardiovascular phenotype
p.Leu462= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Leu527= Multiple submitters Cardiovascular phenotype
p.Leu583= Multiple submitters Naxos disease
p.Leu649= Multiple submitters Naxos disease
p.Leu672= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Leu744= Multiple submitters Cardiovascular phenotype
p.Lys149= Multiple submitters Cardiovascular phenotype
p.Lys161= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Lys533= Multiple submitters Naxos disease
p.Phe284= Multiple submitters Cardiovascular phenotype
p.Phe581= Multiple submitters Cardiovascular phenotype
p.Pro145= Multiple submitters Cardiovascular phenotype
p.Pro183= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Pro282= Multiple submitters Naxos disease
p.Pro312= Multiple submitters Naxos disease
p.Pro496= Multiple submitters Naxos disease
p.Pro517= Multiple submitters Cardiovascular phenotype
p.Pro574= Multiple submitters Cardiovascular phenotype
p.Pro725= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Ser197= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Ser213= Multiple submitters Cardiovascular phenotype
p.Ser241= Multiple submitters Cardiovascular phenotype
p.Ser323= Multiple submitters Cardiovascular phenotype
p.Ser339= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Ser433= Multiple submitters Naxos disease
p.Ser595= Multiple submitters Cardiovascular phenotype
p.Ser596= Multiple submitters Naxos disease
p.Ser627= Multiple submitters Naxos disease
p.Ser671= Multiple submitters Cardiovascular phenotype
p.Ser707= Multiple submitters Cardiovascular phenotype
p.Ser730= Multiple submitters Cardiovascular phenotype
p.Thr196= Multiple submitters Cardiovascular phenotype
p.Thr201= Multiple submitters Cardiovascular phenotype
p.Thr249= Multiple submitters Cardiovascular phenotype
p.Thr330= Multiple submitters Cardiovascular phenotype
p.Thr375= Multiple submitters Cardiovascular phenotype
p.Thr463= Multiple submitters Cardiovascular phenotype
p.Thr546= Multiple submitters Naxos disease
p.Thr58= Multiple submitters Naxos disease
p.Tyr297= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Tyr324= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Tyr53= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Val158= Multiple submitters Naxos disease
p.Val3= Multiple submitters Cardiovascular phenotype
p.Val382= Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Val590= Multiple submitters Cardiovascular phenotype
p.Val65= Multiple submitters Naxos disease
c.1054+11T>C Single submitter arrhythmogenic right ventricular dysplasia 12
c.1054+14C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.1054+15C>T Single submitter Naxos disease
c.1054+18G>A Single submitter Naxos disease
c.1054+8T>C Single submitter arrhythmogenic right ventricular dysplasia 12
c.1055-11C>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.1055-11C>G Single submitter arrhythmogenic right ventricular dysplasia 12
c.1055-12T>A Single submitter Naxos disease
c.1055-16C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.1055-8T>C Single submitter Naxos disease
c.1158+10G>T Single submitter Naxos disease
c.1158+11T>C Single submitter Naxos disease
c.1158+14C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.1158+16G>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.1158+17G>A Single submitter Naxos disease
c.1158+20C>G Single submitter Naxos disease
c.1158+310G>A Single submitter
c.1159-10T>C Single submitter Naxos disease
c.1159-11T>C Single submitter Naxos disease
c.1159-7C>T Single submitter Naxos disease
c.1159-8C>A Single submitter Naxos disease
c.1159-8C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.1497+15C>T Single submitter Naxos disease
c.1497+16G>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.1497+16G>C Single submitter Naxos disease
c.1497+18G>C Single submitter arrhythmogenic right ventricular dysplasia 12
c.1498-10T>C Single submitter arrhythmogenic right ventricular dysplasia 12
c.1498-13C>G Single submitter Naxos disease
c.1498-15C>A Single submitter Naxos disease
c.1498-165G>C Single submitter
c.1498-16C>T Single submitter Naxos disease
c.1498-20A>G Single submitter arrhythmogenic right ventricular dysplasia 12
c.1498-234C>A Single submitter
c.1498-5G>C Single submitter arrhythmogenic right ventricular dysplasia 12
c.1653+12G>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.1653+14T>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.1653+16G>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.1653+7G>A Single submitter Naxos disease
c.1653+9G>A Single submitter Naxos disease
c.1654-11_1654-5del Single submitter arrhythmogenic right ventricular dysplasia 12
c.1654-7C>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.1654-7C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.1773+19G>A Single submitter Naxos disease
c.1773+211dup Single submitter
c.1773+219A>C Single submitter
c.1773+8T>C Single submitter arrhythmogenic right ventricular dysplasia 12
c.1774-10C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.1774-15G>A Single submitter Naxos disease
c.1774-17A>C Single submitter arrhythmogenic right ventricular dysplasia 12
c.1774-4C>T Single submitter Naxos disease
c.1774-5C>G Single submitter arrhythmogenic right ventricular dysplasia 12
c.1774-9T>C Single submitter arrhythmogenic right ventricular dysplasia 12
c.1924+11G>A Single submitter Naxos disease
c.1924+16G>T Single submitter Naxos disease
c.1924+17C>G Single submitter Naxos disease
c.1924+7T>C Single submitter arrhythmogenic right ventricular dysplasia 12
c.1924+7T>G Single submitter arrhythmogenic right ventricular dysplasia 12
c.1925-12C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.1925-12CT[2] Single submitter arrhythmogenic right ventricular dysplasia 12
c.1925-16T>C Single submitter Naxos disease
c.1925-4T>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.1925-8C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.1925-9T>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.2046+10C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.2046+13G>A Single submitter Naxos disease
c.2046+15T>G Single submitter arrhythmogenic right ventricular dysplasia 12
c.2046+19A>G Single submitter Naxos disease
c.2046+7A>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.2047-17TC[3] Single submitter Naxos disease
c.208+10C>T Single submitter Naxos disease
c.208+11C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.208+14G>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.208+15G>A Single submitter Naxos disease
c.208+191C>G Single submitter
c.208+7A>G Single submitter Naxos disease
c.2086+18T>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.2086+19C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.2086+8_2086+11del Single submitter Naxos disease
c.2087-14C>T Single submitter Naxos disease
c.2087-17C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.2087-19C>A Single submitter Naxos disease
c.2087-5C>G Single submitter arrhythmogenic right ventricular dysplasia 12
c.2087-8G>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.2087-9_2087-8delinsCT Single submitter Naxos disease
c.209-12C>G Single submitter Naxos disease
c.209-13C>T Single submitter Naxos disease
c.209-14C>A Single submitter Naxos disease
c.209-16T>C Single submitter arrhythmogenic right ventricular dysplasia 12
c.209-17G>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.209-18T>C Single submitter arrhythmogenic right ventricular dysplasia 12
c.209-330A>G Single submitter
c.209-4C>G Single submitter arrhythmogenic right ventricular dysplasia 12
c.468+12T>C Single submitter Naxos disease
c.468+14C>T Single submitter Naxos disease
c.468+18C>G Single submitter arrhythmogenic right ventricular dysplasia 12
c.468+19T>G Single submitter Naxos disease
c.468+7G>A Single submitter Naxos disease
c.468+8A>G Single submitter arrhythmogenic right ventricular dysplasia 12
c.469-13dup Single submitter Naxos disease
c.469-18C>T Single submitter Naxos disease
c.469-19C>G Single submitter Naxos disease
c.469-20C>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.469-4C>T Single submitter Cardiovascular phenotype
c.707+12T>C Single submitter Naxos disease
c.707+13G>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.707+19T>G Single submitter arrhythmogenic right ventricular dysplasia 12
c.707+20G>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.707+7A>G Single submitter Naxos disease
c.707+8A>G Single submitter arrhythmogenic right ventricular dysplasia 12
c.707+9C>G Single submitter arrhythmogenic right ventricular dysplasia 12
c.707+9C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.708-11C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.708-13C>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.708-189G>C Single submitter
c.708-20dup Single submitter arrhythmogenic right ventricular dysplasia 12
c.708-22_708-19del Single submitter arrhythmogenic right ventricular dysplasia 12
c.708-8C>T Single submitter Naxos disease
c.708-9C>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.909+10C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.909+13C>T Single submitter
c.909+172dup Single submitter
c.909+20C>T Single submitter Naxos disease
c.910-14C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.910-15C>A Single submitter
c.910-16C>T Single submitter Naxos disease
c.910-19A>G Single submitter arrhythmogenic right ventricular dysplasia 12
c.910-19A>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.910-5C>T Single submitter Naxos disease
c.910-7C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.910-9T>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.910-9T>C Single submitter Naxos disease
c.-8-178C>A Single submitter
c.-8-736G>A Single submitter
c.-8-8G>T Single submitter
c.-8-962C>A Single submitter
c.-9+208A>G Single submitter
c.-9+9T>C Single submitter
c.*18C>A Single submitter
c.*312G>A Single submitter
c.*9G>T Single submitter
p.Ala110= Single submitter Cardiovascular phenotype
p.Ala117= Single submitter Naxos disease
p.Ala163= Single submitter Naxos disease
p.Ala178= Single submitter Cardiovascular phenotype
p.Ala187= Single submitter Cardiovascular phenotype
p.Ala188= Single submitter Naxos disease
p.Ala202= Single submitter Cardiovascular phenotype
p.Ala263= Single submitter Cardiovascular phenotype
p.Ala347= Single submitter Cardiovascular phenotype
p.Ala356= Single submitter arrhythmogenic right ventricular dysplasia 12
p.Ala411= Single submitter Cardiovascular phenotype
p.Ala445= Single submitter Cardiovascular phenotype
p.Ala458= Single submitter Cardiovascular phenotype
p.Ala472= Single submitter arrhythmogenic right ventricular dysplasia 12
p.Ala500= Single submitter Naxos disease
p.Ala509= Single submitter Naxos disease
p.Ala516= Single submitter arrhythmogenic right ventricular dysplasia 12
p.Ala571= Single submitter Naxos disease
p.Ala620= Single submitter Cardiovascular phenotype
p.Ala626= Single submitter Naxos disease
p.Ala80= Single submitter Naxos disease
p.Arg142= Single submitter Naxos disease
p.Arg176= Single submitter Cardiovascular phenotype
p.Arg177= Single submitter Cardiovascular phenotype
p.Arg191= Single submitter Cardiovascular phenotype
p.Arg203= Single submitter Cardiovascular phenotype
p.Arg377= Single submitter arrhythmogenic right ventricular dysplasia 12

Uncertain significance 704

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

c.1158+2_1158+4dup Multiple submitters Cardiovascular phenotype
c.1773+3G>A Multiple submitters Naxos disease
c.468+4T>C Multiple submitters Cardiovascular phenotype
c.707+5C>A Multiple submitters Cardiovascular phenotype
c.-1G>A Multiple submitters Cardiovascular phenotype
c.*1026G>A Multiple submitters Naxos disease
c.*1136C>T Multiple submitters Naxos disease
c.*413C>T Multiple submitters Naxos disease
c.*771G>C Multiple submitters Naxos disease
c.*906A>C Multiple submitters Naxos disease
p.Ala110Val Multiple submitters Naxos disease ⚠
p.Ala162Ser Multiple submitters Naxos disease
p.Ala162Val Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Ala163Thr Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Ala178Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala187Thr Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Ala188Thr Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Ala263Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala296Ser Multiple submitters Naxos disease ⚠
p.Ala314Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala347Val Multiple submitters Cardiovascular phenotype
p.Ala411Val Multiple submitters Naxos disease
p.Ala445Pro Multiple submitters Naxos disease ⚠
p.Ala48Asp Multiple submitters Naxos disease ⚠
p.Ala509Ser Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Ala516Asp Multiple submitters Cardiovascular phenotype ⚠
p.Ala522_Val523insAla Multiple submitters Cardiovascular phenotype
p.Ala522Glu Multiple submitters Cardiovascular phenotype ⚠
p.Ala522Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala544Val Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Ala566Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala566Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala571Ser Multiple submitters Naxos disease ⚠
p.Ala571Thr Multiple submitters Naxos disease ⚠
p.Ala612Gly Multiple submitters Naxos disease ⚠
p.Ala617Thr Multiple submitters Naxos disease ⚠
p.Ala620Thr Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Ala623Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala626Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala628Val Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Ala80Thr Multiple submitters Naxos disease ⚠
p.Ala88Asn Multiple submitters Naxos disease
p.Arg115Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg142Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg176Leu Multiple submitters Naxos disease ⚠
p.Arg191Cys Multiple submitters Naxos disease ⚠
p.Arg191His Multiple submitters Naxos disease ⚠
p.Arg191Leu Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Arg216Gln Multiple submitters Naxos disease ⚠
p.Arg216Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg233His Multiple submitters Cardiovascular phenotype ⚠
p.Arg265Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg265His Multiple submitters Naxos disease ⚠
p.Arg333Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg333His Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Arg367Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg367Leu Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Arg377Cys Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Arg377His Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Arg377Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg444Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg460Cys Multiple submitters Naxos disease ⚠
p.Arg460His Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Arg465His Multiple submitters Cardiovascular phenotype ⚠
p.Arg477Cys Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Arg51Cys Multiple submitters Naxos disease ⚠
p.Arg51His Multiple submitters Cardiovascular phenotype ⚠
p.Arg51Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg540Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg572Leu Multiple submitters Naxos disease ⚠
p.Arg572Trp Multiple submitters Naxos disease ⚠
p.Arg577Cys Multiple submitters Naxos disease ⚠
p.Arg577His Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Arg582Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg582Pro Multiple submitters Naxos disease ⚠
p.Arg582Trp Multiple submitters Naxos disease
p.Arg602Cys Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Arg602His Multiple submitters Cardiovascular phenotype ⚠
p.Arg637Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg661Trp Multiple submitters Naxos disease ⚠
p.Arg663His Multiple submitters Cardiovascular phenotype ⚠
p.Arg702Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg84Gly Multiple submitters Naxos disease ⚠
p.Arg84Trp Multiple submitters JUP-related disorder ⚠
p.Arg86Trp Multiple submitters Cardiovascular phenotype
p.Asn152Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn211del Multiple submitters Cardiovascular phenotype
p.Asn252Asp Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Asn278Ser Multiple submitters Naxos disease ⚠
p.Asn309Ile Multiple submitters Naxos disease ⚠
p.Asn371Lys Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Asn406Lys Multiple submitters Naxos disease ⚠
p.Asn425Asp Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Asn490Lys Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Asn507Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn638Thr Multiple submitters Naxos disease ⚠
p.Asp136Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp136His Multiple submitters Cardiovascular phenotype ⚠
p.Asp198Ala Multiple submitters Cardiovascular phenotype ⚠
p.Asp23Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp268Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp290Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp404Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp449Gly Multiple submitters Naxos disease
p.Asp552Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp659Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp695Gly Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Asp71Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asp721_Gly722insMetAsp Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Asp721Gly Multiple submitters Cardiovascular phenotype ⚠
p.Cys420Arg Multiple submitters Cardiovascular phenotype ⚠
p.Cys609Arg Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Gln105His Multiple submitters Naxos disease ⚠
p.Gln134Arg Multiple submitters Cardiovascular phenotype
p.Gln168Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln18His Multiple submitters Naxos disease ⚠
p.Gln317His Multiple submitters Cardiovascular phenotype ⚠
p.Gln431Arg Multiple submitters Naxos disease ⚠
p.Gln494Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln494His Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Gln519Glu Multiple submitters dilated cardiomyopathy ⚠
p.Gln536Glu Multiple submitters Naxos disease ⚠
p.Gln548Glu Multiple submitters Naxos disease ⚠
p.Glu146Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu258Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu436Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu47Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu639Lys Multiple submitters Naxos disease ⚠
p.Glu654Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu96Lys Multiple submitters Cardiovascular phenotype ⚠
p.Gly181_Leu185dup Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Gly181Val Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Gly311Arg Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Gly41Asp Multiple submitters Naxos disease ⚠
p.Gly434Ser Multiple submitters Naxos disease ⚠
p.Gly446Cys Multiple submitters Cardiovascular phenotype ⚠
p.Gly50Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly553Val Multiple submitters Cardiovascular phenotype ⚠
p.Gly565Arg Multiple submitters Naxos disease ⚠
p.Gly606Arg Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Gly606Glu Multiple submitters Naxos disease ⚠
p.Gly732Ser Multiple submitters Cardiovascular phenotype ⚠
p.Gly92Cys Multiple submitters Cardiovascular phenotype ⚠
p.His210Tyr Multiple submitters Cardiovascular phenotype ⚠
p.His360Gln Multiple submitters Cardiovascular phenotype ⚠
p.His515Arg Multiple submitters Cardiovascular phenotype
p.His541Leu Multiple submitters Cardiovascular phenotype ⚠
p.His717Asp Multiple submitters Cardiovascular phenotype ⚠
p.Ile127Val Multiple submitters Naxos disease ⚠
p.Ile131del Multiple submitters Cardiovascular phenotype
p.Ile165Thr Multiple submitters Naxos disease ⚠
p.Ile208Met Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Ile208Val Multiple submitters Naxos disease ⚠
p.Ile222Val Multiple submitters Cardiovascular phenotype
p.Ile26Met Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Ile287Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile318Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile505Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile569Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ile687Thr Multiple submitters Cardiovascular phenotype ⚠
p.Leu122Pro Multiple submitters Naxos disease ⚠
p.Leu212Val Multiple submitters Cardiovascular phenotype
p.Leu231Pro Multiple submitters Naxos disease ⚠
p.Leu255Arg Multiple submitters Cardiovascular phenotype ⚠
p.Leu266Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu295Pro Multiple submitters Cardiovascular phenotype ⚠
p.Leu357Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu415Val Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Leu428Pro Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Leu443Pro Multiple submitters Naxos disease ⚠
p.Leu497Arg Multiple submitters Cardiovascular phenotype ⚠
p.Leu504Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu592Val Multiple submitters Naxos disease ⚠
p.Leu593Gln Multiple submitters Naxos disease ⚠
p.Leu711Pro Multiple submitters Cardiovascular phenotype ⚠
p.Lys12Asn Multiple submitters Cardiovascular phenotype ⚠
p.Lys171Arg Multiple submitters Naxos disease ⚠
p.Lys172del Multiple submitters Cardiovascular phenotype
p.Lys261Arg Multiple submitters Cardiovascular phenotype ⚠
p.Lys283Asn Multiple submitters Cardiovascular phenotype ⚠
p.Lys499Gln Multiple submitters Naxos disease ⚠
p.Lys615Glu Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Lys83Arg Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Met1_Glu2del Multiple submitters Cardiovascular phenotype
p.Met164Val Multiple submitters Naxos disease ⚠
p.Met193Ile Multiple submitters Cardiovascular phenotype ⚠
p.Met273Thr Multiple submitters Cardiovascular phenotype ⚠
p.Met43Ile Multiple submitters Cardiovascular phenotype ⚠
p.Met556Thr Multiple submitters Cardiovascular phenotype ⚠
p.Met704Val Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Met716Val Multiple submitters Cardiovascular phenotype ⚠
p.Met718Thr Multiple submitters Naxos disease ⚠
p.Met743Val Multiple submitters Cardiovascular phenotype ⚠
p.Met76Arg Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Met7Ile Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Phe244Ser Multiple submitters Naxos disease ⚠
p.Phe650Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro156Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro183Ser Multiple submitters Naxos disease ⚠
p.Pro346Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro366Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro366Thr Multiple submitters Naxos disease ⚠
p.Pro467Leu Multiple submitters Naxos disease ⚠
p.Pro496Thr Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Pro512Ala Multiple submitters Cardiovascular phenotype ⚠
p.Pro517Leu Multiple submitters Naxos disease
p.Pro549His Multiple submitters Naxos disease ⚠
p.Pro587Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro629Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro658Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro710His Multiple submitters Cardiovascular phenotype ⚠
p.Pro735Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro91Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ser125Leu Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Ser175Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ser225Leu Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Ser241Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ser24Leu Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Ser28Leu Multiple submitters Naxos disease ⚠
p.Ser323Gly Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Ser343Asn Multiple submitters Naxos disease ⚠
p.Ser39del Multiple submitters Naxos disease
p.Ser416Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ser464Asn Multiple submitters Cardiovascular phenotype ⚠
p.Ser596Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ser665Pro Multiple submitters ⚠
p.Ser685Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ser68Asn Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Ser730Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ser77Phe Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Ser77Pro Multiple submitters Cardiovascular phenotype ⚠
p.Thr104Asn Multiple submitters Naxos disease ⚠
p.Thr19Ala Multiple submitters Naxos disease ⚠
p.Thr21Asn Multiple submitters Naxos disease ⚠
p.Thr248Asn Multiple submitters Cardiovascular phenotype ⚠
p.Thr249Met Multiple submitters Cardiovascular phenotype ⚠
p.Thr249Pro Multiple submitters Naxos disease ⚠
p.Thr330Asn Multiple submitters Cardiovascular phenotype ⚠
p.Thr362Ile Multiple submitters Cardiovascular phenotype ⚠
p.Thr452Met Multiple submitters Cardiovascular phenotype ⚠
p.Thr452Ser Multiple submitters Cardiovascular phenotype ⚠
p.Thr546Pro Multiple submitters Cardiovascular phenotype ⚠
p.Thr54Ala Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Thr54Met Multiple submitters Cardiovascular phenotype ⚠
p.Thr551Met Multiple submitters Cardiovascular phenotype ⚠
p.Thr585Ala Multiple submitters Cardiovascular phenotype ⚠
p.Thr643Ala Multiple submitters Cardiovascular phenotype ⚠
p.Thr700Ala Multiple submitters Cardiovascular phenotype ⚠
p.Tyr322His Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Tyr480Cys Multiple submitters arrhythmogenic right ventricular dysplasia 12
p.Tyr594Asn Multiple submitters Naxos disease ⚠
p.Val159Ala Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Val190Leu Multiple submitters Naxos disease ⚠
p.Val242Phe Multiple submitters JUP-related disorder ⚠
p.Val274Met Multiple submitters Cardiovascular phenotype ⚠
p.Val316Gly Multiple submitters dilated cardiomyopathy ⚠
p.Val316Met Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Val349Glu Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Val34Met Multiple submitters Cardiovascular phenotype ⚠
p.Val369Leu Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Val37Ile Multiple submitters Cardiovascular phenotype ⚠
p.Val407Ile Multiple submitters Cardiovascular phenotype ⚠
p.Val456Ala Multiple submitters Naxos disease ⚠
p.Val486Gly Multiple submitters Naxos disease ⚠
p.Val603Met Multiple submitters Naxos disease ⚠
p.Val65Leu Multiple submitters arrhythmogenic right ventricular dysplasia 12 ⚠
p.Val664Met Multiple submitters Cardiovascular phenotype ⚠
p.Val666Met Multiple submitters Naxos disease ⚠
c.1054+3G>A Single submitter Naxos disease
c.1055-3C>G Single submitter Naxos disease
c.1158+14C>G Single submitter arrhythmogenic right ventricular dysplasia 12
c.1497+4C>G Single submitter Cardiovascular phenotype
c.1653+4T>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.1653+5G>C Single submitter Naxos disease
c.1654-3C>T Single submitter Cardiovascular phenotype
c.2046+7A>G Single submitter
c.2047-4T>A Single submitter
c.208+4A>G Single submitter Naxos disease
c.2087-4C>A Single submitter Cardiovascular phenotype
c.209-3del Single submitter Naxos disease
c.468+3C>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.707+2T>C Single submitter Cardiovascular phenotype
c.707+3delinsGAGCCCATCAGTGAG Single submitter Cardiovascular phenotype
c.707+5C>T Single submitter cardiomyopathy
c.708-10A>C Single submitter cardiomyopathy
c.708-1G>A Single submitter Cardiovascular phenotype
c.708-3C>A Single submitter arrhythmogenic right ventricular cardiomyopathy
c.708-3C>T Single submitter Cardiovascular phenotype
c.909+1del Single submitter Cardiovascular phenotype
c.909+5G>T Single submitter Naxos disease
c.909+6C>A Single submitter Naxos disease
c.*1014C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.*19G>A Single submitter arrhythmogenic right ventricular cardiomyopathy
c.*316G>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.*339C>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.*351G>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.*409C>G Single submitter arrhythmogenic right ventricular dysplasia 12
c.*436G>A Single submitter arrhythmogenic right ventricular dysplasia 12
c.*497A>T Single submitter arrhythmogenic right ventricular dysplasia 12
c.*567C>G Single submitter Naxos disease