EYA4 — 1216 ClinVar variants

All ClinVar germline EYA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 515 flagged for review →

50 Pathogenic · 6 Pathogenic/Likely pathogenic · 39 Likely pathogenic · 46 Conflicting · 57 Benign · 26 Benign/Likely benign · 343 Likely benign · 649 Uncertain significance

Full EYA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 515

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

Predictors vs ClinVar 1

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

EYA4 p.Asp194Asn Pathogenic/Likely pathogenic Multiple submitters
dilated cardiomyopathy 1J

Predictors agree, ClinVar conflicts 15

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

EYA4 p.Ala116Val Conflicting Single submitter
Cardiovascular phenotype
EYA4 p.Ala300Asp Conflicting Single submitter
autosomal dominant nonsyndromic hearing loss 10
EYA4 p.Arg370His Conflicting Single submitter
Cardiovascular phenotype
EYA4 p.Asp327Asn Conflicting Single submitter
Cardiovascular phenotype
EYA4 p.Glu71Asp Conflicting Single submitter
dilated cardiomyopathy 1J
EYA4 p.Gly353Glu Conflicting Single submitter
dilated cardiomyopathy 1J
EYA4 p.Gly473Val Conflicting Single submitter
Cardiovascular phenotype
EYA4 p.Ile543Val Conflicting Single submitter
Cardiovascular phenotype
EYA4 p.Leu35Val Conflicting Single submitter
dilated cardiomyopathy 1J
EYA4 p.Met329Ile Conflicting Single submitter
Cardiovascular phenotype
EYA4 p.Pro317Ser Conflicting Single submitter
Cardiovascular phenotype
EYA4 p.Ser139Thr Conflicting Single submitter
Cardiovascular phenotype
EYA4 p.Thr250Asn Conflicting Single submitter
Cardiovascular phenotype
EYA4 p.Thr289Met Conflicting Single submitter
Cardiovascular phenotype
EYA4 p.Val499Ile Conflicting Single submitter
Cardiovascular phenotype

Predicted LoF vs a conflicting call 1

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

EYA4 c.1839+1G>C Conflicting Single submitter
EYA4-related disorder

Predictors lean, ClinVar uncertain 409

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 409

EYA4 p.Met478Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ala201Thr Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 10
EYA4 p.Ala253Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ala275Gly Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Ala275Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Ala287Val Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ala292Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ala292Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Ala402Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ala458Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ala460Glu Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Ala482Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Ala516Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ala79Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ala91Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Arg356Gln Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 10
EYA4 p.Arg356Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Arg356Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Arg370Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Arg408Cys Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Arg408His Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Arg484His Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Arg508Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Arg587Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Arg587Pro Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Asn321Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Asn321His Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Asn442Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Asn72Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Asp301Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Asp327His Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Asp340Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Asp398Tyr Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Asp3Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Asp418Gly Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Asp435Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Asp440Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Asp440His Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Asp445Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Asp46Gly Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Asp6Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Cys344Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Cys429Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Gln137Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Gln23Leu Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Gln311Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Gln33Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Gln444Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Glu2Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Glu325Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Glu428Asp Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Glu517Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Glu54Val Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Glu608Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Glu9Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Gly171Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Gly265Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Gly355Asp Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Gly389Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Gly396Asp Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Gly44Asp Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Gly501Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Gly566Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Gly580Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.His136Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.His39Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.His420Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ile151Val Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ile434Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ile518Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Ile535Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Ile570Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Leu117Phe Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Leu152Val Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Leu195Phe Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Leu316Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Leu319Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Leu421Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Leu53Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Lys13Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Lys14Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Lys337Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Lys489Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Lys489Asn Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Lys507Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Lys52Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Lys52Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Lys531Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Lys581Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Met160Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Met30Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Met30Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Met30Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Met401Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Met409Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Met478Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Met589Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Met616Leu Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Met616Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Met73Val Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Pro155Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Pro191Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Pro214Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Pro229Gln Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Pro235Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Pro271Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Pro362Leu Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 10
EYA4 p.Pro88Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Pro88Leu Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Ser11Leu Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Ser170Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ser209Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ser223Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ser258Pro Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 10
EYA4 p.Ser264Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ser308Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ser37Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ser439Phe Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Ser439Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ser447Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ser50Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ser51Phe Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Ser84Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Thr15Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Thr15Met Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Thr15Pro Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Thr184Ala Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Thr211Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Thr228Ile Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Thr234Ile Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 10
EYA4 p.Thr250Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Thr261Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Thr261Met Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Thr307Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Thr328Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Thr404Asn Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Thr40Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Thr61Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Thr87Ile Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Thr92Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Tyr148Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Tyr181Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Tyr193Phe Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Tyr562Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Val177Ile Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Val197Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Val21Gly Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Val257Ala Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Val42Leu Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Val432Leu Uncertain significance Multiple submitters
Cardiovascular phenotype

Predictors split 89

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

EYA4 p.Arg472Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Asp269Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Cys542Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Gln186Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Gln216Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Gln280Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Gln283Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Gly165Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Gly277Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Gly348Glu Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.His631Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ile125Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Ile151Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Leu208Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Lys146Asn Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Lys595Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Phe326Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Pro229Leu Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Pro241Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ser153Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ser296Leu Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Thr334Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Thr453Asn Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Thr78Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Tyr163Cys Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Tyr193Cys Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Tyr236Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Tyr238His Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Tyr270Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Tyr273Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Tyr293Cys Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Val382Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Val437Ile Uncertain significance Multiple submitters
dilated cardiomyopathy 1J
EYA4 p.Val471Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
EYA4 p.Ala417Ser Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Ala516Val Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Ala567Gly Uncertain significance Single submitter
Cardiovascular phenotype
EYA4 p.Arg345Ser Conflicting Single submitter
Cardiovascular phenotype
EYA4 p.Arg472Lys Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Arg479Lys Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Arg508Lys Conflicting Single submitter
Cardiovascular phenotype
EYA4 p.Asn415His Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Asn415Ser Uncertain significance Single submitter
Cardiovascular phenotype
EYA4 p.Asn424Ser Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Asp194Tyr Uncertain significance Single submitter
EYA4 p.Cys542Tyr Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Gln632Glu Uncertain significance Single submitter
Cardiovascular phenotype
EYA4 p.Gly171Arg Conflicting Single submitter
Cardiovascular phenotype
EYA4 p.Gly196Asp Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Gly207Arg Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Gly218Cys Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Gly232Val Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Gly277Arg Uncertain significance Single submitter
EYA4 p.Gly291Glu Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Gly355Val Uncertain significance Single submitter
Cardiovascular phenotype
EYA4 p.Gly470Ser Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.His150Asp Uncertain significance Single submitter
Cardiovascular phenotype
EYA4 p.His457Arg Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Ile202Thr Uncertain significance Single submitter
Cardiovascular phenotype
EYA4 p.Lys531Arg Uncertain significance Single submitter
EYA4 p.Met32Ile Uncertain significance Single submitter
EYA4 p.Phe245Leu Uncertain significance Single submitter
EYA4 p.Pro332Leu Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Pro364Ser Uncertain significance Single submitter
Cardiovascular phenotype
EYA4 p.Ser161Cys Uncertain significance Single submitter
Cardiovascular phenotype
EYA4 p.Ser170Trp Uncertain significance Single submitter
Cardiovascular phenotype
EYA4 p.Ser213Tyr Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Ser237Tyr Uncertain significance Single submitter
Cardiovascular phenotype
EYA4 p.Ser331Arg Uncertain significance Single submitter
Cardiovascular phenotype
EYA4 p.Ser347Tyr Uncertain significance Single submitter
Cardiovascular phenotype
EYA4 p.Ser524Phe Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Ser583Gly Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Ser84Arg Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Ser94Tyr Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Thr469Ala Uncertain significance Single submitter
Cardiovascular phenotype
EYA4 p.Thr78Ile Uncertain significance Single submitter
Cardiovascular phenotype
EYA4 p.Thr78Lys Uncertain significance Single submitter
Cardiovascular phenotype
EYA4 p.Trp81Cys Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Tyr148Cys Uncertain significance Single submitter
EYA4 p.Tyr169Cys Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Tyr188Cys Uncertain significance Single submitter
EYA4 p.Tyr236His Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Tyr273Cys Uncertain significance Single submitter
Cardiovascular phenotype
EYA4 p.Tyr285His Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Tyr290Cys Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Tyr310Cys Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Val597Ala Uncertain significance Single submitter
dilated cardiomyopathy 1J
EYA4 p.Val597Leu Uncertain significance Single submitter
Cardiovascular phenotype
EYA4 p.Val600Ile Uncertain significance Single submitter
dilated cardiomyopathy 1J

All EYA4 variants

Pathogenic 50

p.Arg587Ter Multiple submitters dilated cardiomyopathy 1J
p.Phe414fs Multiple submitters dilated cardiomyopathy 1J
p.Thr159fs Multiple submitters dilated cardiomyopathy 1J
p.Val471fs Single submitter dilated cardiomyopathy 1J
c.1501+2T>C Single submitter autosomal dominant nonsyndromic hearing loss 10
c.580+2T>C Single submitter nonsyndromic genetic hearing loss
p.Arg408fs Single submitter dilated cardiomyopathy 1J
p.Asn358fs Single submitter autosomal dominant nonsyndromic hearing loss 10
p.Asn424Ter Single submitter
p.Asn572fs Single submitter autosomal dominant nonsyndromic hearing loss 10
p.Asp338fs Single submitter
p.Asp340fs Single submitter familial dilated cardiomyopathy
p.Gln137Ter Single submitter
p.Gln173Ter Single submitter autosomal dominant nonsyndromic hearing loss 10
p.Gln174Ter Single submitter dilated cardiomyopathy 1J
p.Gln216Ter Single submitter dilated cardiomyopathy 1J
p.Gln23Ter Single submitter dilated cardiomyopathy 1J
p.Gln278Ter Single submitter dilated cardiomyopathy 1J
p.Gln330Ter Single submitter
p.Gln393Ter Single submitter EYA4-related disorder
p.Gln431Ter Single submitter dilated cardiomyopathy 1J
p.Gln5Ter Single submitter dilated cardiomyopathy 1J
p.Glu71Ter Single submitter dilated cardiomyopathy 1J
p.Gly473fs Single submitter dilated cardiomyopathy 1J
p.Gly593fs Single submitter dilated cardiomyopathy 1J
p.Leu491fs Single submitter dilated cardiomyopathy 1J
p.Lys612Ter Single submitter
p.Met93fs Single submitter Cardiovascular phenotype
p.Pro332fs Single submitter
p.Pro362fs Single submitter dilated cardiomyopathy 1J
p.Ser106fs Single submitter Inborn genetic diseases
p.Ser206fs Single submitter dilated cardiomyopathy 1J
p.Ser209fs Single submitter dilated cardiomyopathy 1J
p.Ser331fs Single submitter autosomal dominant nonsyndromic hearing loss 10
p.Ser385Ter Single submitter autosomal dominant nonsyndromic hearing loss 10
p.Thr112_Gly113insTer Single submitter dilated cardiomyopathy 1J
p.Trp525Ter Single submitter dilated cardiomyopathy 1J
p.Tyr181Ter Single submitter autosomal dominant nonsyndromic hearing loss 10
p.Tyr193Ter Single submitter dilated cardiomyopathy 1J
p.Tyr574Lys Single submitter autosomal dominant nonsyndromic hearing loss 10
p.Val373fs Single submitter
p.Val75fs Single submitter dilated cardiomyopathy 1J
c.1282-12T>A No assertion criteria autosomal dominant nonsyndromic hearing loss 10
c.724_805-957del No assertion criteria dilated cardiomyopathy 1J
c.804+2del No assertion criteria autosomal dominant nonsyndromic hearing loss 10
c.804+2T>A No assertion criteria autosomal dominant nonsyndromic hearing loss 10
p.Arg352fs No assertion criteria autosomal dominant nonsyndromic hearing loss 10
p.Gln322Ter No assertion criteria autosomal dominant nonsyndromic hearing loss 10
p.Thr343fs No assertion criteria autosomal dominant nonsyndromic hearing loss 10
p.Tyr148fs No assertion criteria autosomal dominant nonsyndromic hearing loss 10

Pathogenic/Likely pathogenic 6

p.Asp194Asn Multiple submitters dilated cardiomyopathy 1J ⚠
p.Gln513Ter Multiple submitters EYA4-related disorder
p.Trp81fs Multiple submitters dilated cardiomyopathy 1J
p.Trp81Ter Multiple submitters autosomal dominant nonsyndromic hearing loss 10
p.Val21fs Multiple submitters dilated cardiomyopathy 1J
p.Val471fs Multiple submitters EYA4-related disorder

Likely pathogenic 39

c.1341-2A>G Multiple submitters dilated cardiomyopathy 1J
c.1739-1G>A Multiple submitters Cardiovascular phenotype
c.1839+1G>A Single submitter Cardiovascular phenotype
c.209-1G>A Single submitter dilated cardiomyopathy 1J
c.277+1G>A Single submitter dilated cardiomyopathy 1J
c.33+2T>G Single submitter dilated cardiomyopathy 1J
c.370+1G>T Single submitter dilated cardiomyopathy 1J
c.371-2A>C Single submitter Rare genetic deafness
c.371-2A>G Single submitter dilated cardiomyopathy 1J
c.437+2_437+3insG Single submitter
c.580+1G>A Single submitter dilated cardiomyopathy 1J
c.725-1G>C Single submitter EYA4-related disorder
c.725-2A>G Single submitter autosomal dominant nonsyndromic hearing loss 10
c.970+1G>A Single submitter dilated cardiomyopathy 1J
c.970+1G>T Single submitter dilated cardiomyopathy 1J
c.971-2A>G Single submitter dilated cardiomyopathy 1J
p.Asn104fs Single submitter autosomal dominant nonsyndromic hearing loss 10
p.Asn359fs Single submitter EYA4-related disorder
p.Asp327fs Single submitter EYA4-related disorder
p.Gln158Ter Single submitter autosomal dominant nonsyndromic hearing loss 10
p.Gln168Ter Single submitter
p.Gln268Ter Single submitter EYA4-related disorder
p.Gln280Ter Single submitter autosomal dominant nonsyndromic hearing loss 10
p.Glu490fs Single submitter hearing loss disorder
p.Glu490Ter Single submitter autosomal dominant nonsyndromic hearing loss 10
p.Glu582fs Single submitter autosomal dominant nonsyndromic hearing loss 10
p.Gly302fs Single submitter autosomal dominant nonsyndromic hearing loss 10
p.Lys357Ter Single submitter
p.Lys496Ter Single submitter autosomal dominant nonsyndromic hearing loss 10
p.Lys507Ter Single submitter autosomal dominant nonsyndromic hearing loss 10
p.Met401fs Single submitter autosomal dominant nonsyndromic hearing loss 10
p.Ser134Ter Single submitter
p.Ser153fs Single submitter Rare genetic deafness
p.Ser288Ter Single submitter
p.Trp374Ter Single submitter autosomal dominant nonsyndromic hearing loss 10
p.Tyr284Ter Single submitter EYA4-related disorder
p.Tyr391Ter Single submitter autosomal dominant nonsyndromic hearing loss 10
p.Tyr395Ter Single submitter EYA4-related disorder
p.Tyr449Ter Single submitter autosomal dominant nonsyndromic hearing loss 10

Conflicting classifications of pathogenicity 46

c.1107+10C>G Single submitter autosomal dominant nonsyndromic hearing loss 10
c.1107+13A>C Single submitter autosomal dominant nonsyndromic hearing loss 10
c.1617-11C>T Single submitter dilated cardiomyopathy 1J
c.1739-64G>A Single submitter autosomal dominant nonsyndromic hearing loss 10
c.1739-89_1739-85del Single submitter autosomal dominant nonsyndromic hearing loss 10
c.1839+1G>C Single submitter EYA4-related disorder ⚠
c.1840-7del Single submitter dilated cardiomyopathy 1J
c.438-15T>C Single submitter dilated cardiomyopathy 1J
c.724_(804_? Single submitter dilated cardiomyopathy
c.83+5A>G Single submitter Cardiovascular phenotype
c.970+16C>G Single submitter dilated cardiomyopathy 1J
c.970+6G>T Single submitter dilated cardiomyopathy 1J
c.*1350G>A Single submitter dilated cardiomyopathy 1J
c.*1820A>T Single submitter autosomal dominant nonsyndromic hearing loss 10
c.*1905T>A Single submitter dilated cardiomyopathy 1J
c.*2044A>G Single submitter dilated cardiomyopathy 1J
c.*2188T>A Single submitter dilated cardiomyopathy 1J
c.*2359C>T Single submitter dilated cardiomyopathy 1J
c.*2588C>T Single submitter autosomal dominant nonsyndromic hearing loss 10
p.Ala116Val Single submitter Cardiovascular phenotype ⚠
p.Ala300Asp Single submitter autosomal dominant nonsyndromic hearing loss 10 ⚠
p.Arg345Ser Single submitter Cardiovascular phenotype ⚠
p.Arg370His Single submitter Cardiovascular phenotype ⚠
p.Arg508Lys Single submitter Cardiovascular phenotype ⚠
p.Arg591= Single submitter Cardiovascular phenotype
p.Asp327Asn Single submitter Cardiovascular phenotype ⚠
p.Glu71Asp Single submitter dilated cardiomyopathy 1J ⚠
p.Gly171Arg Single submitter Cardiovascular phenotype ⚠
p.Gly353Glu Single submitter dilated cardiomyopathy 1J ⚠
p.Gly473Val Single submitter Cardiovascular phenotype ⚠
p.Ile543Val Single submitter Cardiovascular phenotype ⚠
p.Leu35Val Single submitter dilated cardiomyopathy 1J ⚠
p.Leu446= Single submitter Cardiovascular phenotype
p.Met329Ile Single submitter Cardiovascular phenotype ⚠
p.Pro241= Single submitter Cardiovascular phenotype
p.Pro317Ser Single submitter Cardiovascular phenotype ⚠
p.Pro323= Single submitter Cardiovascular phenotype
p.Pro468= Single submitter dilated cardiomyopathy 1J
p.Ser105= Single submitter Cardiovascular phenotype
p.Ser11= Single submitter dilated cardiomyopathy 1J
p.Ser139Thr Single submitter Cardiovascular phenotype ⚠
p.Ser296= Single submitter Cardiovascular phenotype
p.Thr112= Single submitter dilated cardiomyopathy 1J
p.Thr250Asn Single submitter Cardiovascular phenotype ⚠
p.Thr289Met Single submitter Cardiovascular phenotype ⚠
p.Val499Ile Single submitter Cardiovascular phenotype ⚠

Benign 57

c.1281+21A>G Multiple submitters dilated cardiomyopathy 1J
c.580+14_580+16del Multiple submitters dilated cardiomyopathy 1J
c.804+17T>C Multiple submitters dilated cardiomyopathy 1J
c.*1264T>A Multiple submitters dilated cardiomyopathy 1J
c.*1434A>G Multiple submitters dilated cardiomyopathy 1J
c.*1658C>T Multiple submitters dilated cardiomyopathy 1J
c.*1867C>T Multiple submitters dilated cardiomyopathy 1J
c.*2108A>G Multiple submitters autosomal dominant nonsyndromic hearing loss 10
c.*2184A>T Multiple submitters dilated cardiomyopathy 1J
c.*23C>T Multiple submitters dilated cardiomyopathy 1J
c.1107+274C>G Single submitter
c.1107+274C>T Single submitter
c.1108-156A>C Single submitter
c.1191+239A>T Single submitter
c.1191+273G>A Single submitter
c.1192-96T>C Single submitter
c.1192-9del Single submitter dilated cardiomyopathy 1J
c.1281+175G>T Single submitter
c.1281+262A>G Single submitter
c.1501+315G>A Single submitter
c.1502-129C>T Single submitter
c.1502-268T>C Single submitter
c.1502-271C>T Single submitter
c.1616+188GT[13] Single submitter
c.1616+188GT[14] Single submitter
c.1616+188GT[15] Single submitter
c.1616+188GT[16] Single submitter
c.1616+291T>A Single submitter
c.1617-57C>A Single submitter
c.1738+24G>C Single submitter
c.1738+294_1738+297del Single submitter
c.1839+149T>G Single submitter
c.1840-74A>G Single submitter
c.209-129A>G Single submitter
c.33+266T>C Single submitter
c.33+276A>G Single submitter
c.34-205A>G Single submitter
c.370+53C>G Single submitter
c.371-299C>T Single submitter
c.371-64T>C Single submitter
c.437+57T>A Single submitter
c.437+88T>C Single submitter
c.438-218A>G Single submitter
c.438-330T>G Single submitter
c.724+152C>T Single submitter
c.724+161G>A Single submitter
c.725-293T>C Single submitter
c.725-9del Single submitter dilated cardiomyopathy 1J
c.83+119T>C Single submitter
c.84-236G>C Single submitter
c.970+92G>A Single submitter
c.971-59G>A Single submitter
c.-65-170C>A Single submitter
c.-65-283G>A Single submitter
c.-76C>T Single submitter dilated cardiomyopathy 1J
c.*16G>A Single submitter
c.*726C>A Single submitter dilated cardiomyopathy 1J

Benign/Likely benign 26

c.1281+20C>T Multiple submitters dilated cardiomyopathy 1J
c.1501+19A>G Multiple submitters dilated cardiomyopathy 1J
c.1617-13C>G Multiple submitters dilated cardiomyopathy 1J
c.277+9G>A Multiple submitters dilated cardiomyopathy 1J
c.370+16C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 10
c.804+16G>T Multiple submitters dilated cardiomyopathy 1J
c.-356T>C Multiple submitters dilated cardiomyopathy 1J
c.*1484C>T Multiple submitters dilated cardiomyopathy 1J
c.*2302G>A Multiple submitters dilated cardiomyopathy 1J
c.*2685T>A Multiple submitters dilated cardiomyopathy 1J
c.*2918G>A Multiple submitters dilated cardiomyopathy 1J
c.*3014T>C Multiple submitters dilated cardiomyopathy 1J
p.Asn615= Multiple submitters Cardiovascular phenotype
p.Asp3= Multiple submitters Cardiovascular phenotype
p.Gly277Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 10
p.Gly291= Multiple submitters Cardiovascular phenotype
p.Gly302Asp Multiple submitters Cardiovascular phenotype
p.Gly443= Multiple submitters Cardiovascular phenotype
p.Leu35= Multiple submitters autosomal dominant nonsyndromic hearing loss 10
p.Ser37= Multiple submitters autosomal dominant nonsyndromic hearing loss 10
p.Thr289= Multiple submitters Cardiovascular phenotype
p.Thr309Ala Multiple submitters dilated cardiomyopathy 1J
c.-244C>G Single submitter dilated cardiomyopathy 1J
c.-326C>G Single submitter dilated cardiomyopathy 1J
c.-445C>T Single submitter dilated cardiomyopathy 1J
c.*2968T>A Single submitter dilated cardiomyopathy 1J

Likely benign 343

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

p.Pro569= Multiple submitters dilated cardiomyopathy 1J
c.1107+19A>T Multiple submitters dilated cardiomyopathy 1J
c.1738+19A>T Multiple submitters dilated cardiomyopathy 1J
c.1739-132A>G Multiple submitters
c.1739-48C>T Multiple submitters
c.1839+18A>G Multiple submitters dilated cardiomyopathy 1J
c.1840-16T>G Multiple submitters autosomal dominant nonsyndromic hearing loss 10
c.277+10A>G Multiple submitters dilated cardiomyopathy 1J
c.277+202C>T Multiple submitters
c.278-4G>A Multiple submitters dilated cardiomyopathy 1J
c.278-5C>T Multiple submitters dilated cardiomyopathy 1J
c.437+9del Multiple submitters dilated cardiomyopathy 1J
c.438-259A>G Multiple submitters
c.805-12T>C Multiple submitters dilated cardiomyopathy 1J
c.84-4C>T Multiple submitters Cardiovascular phenotype
c.971-7T>C Multiple submitters dilated cardiomyopathy 1J
c.*2799C>A Multiple submitters autosomal dominant nonsyndromic hearing loss 10
p.Ala116= Multiple submitters Cardiovascular phenotype
p.Ala156= Multiple submitters Cardiovascular phenotype
p.Ala287= Multiple submitters Cardiovascular phenotype
p.Ala300= Multiple submitters Cardiovascular phenotype
p.Ala557= Multiple submitters Cardiovascular phenotype
p.Ala610= Multiple submitters Cardiovascular phenotype
p.Ala79= Multiple submitters dilated cardiomyopathy 1J
p.Arg479= Multiple submitters Cardiovascular phenotype
p.Arg594= Multiple submitters Cardiovascular phenotype
p.Asn498= Multiple submitters Cardiovascular phenotype
p.Asp365= Multiple submitters dilated cardiomyopathy 1J
p.Asp436= Multiple submitters dilated cardiomyopathy 1J
p.Cys85= Multiple submitters Cardiovascular phenotype
p.Gln210= Multiple submitters Cardiovascular phenotype
p.Gln23= Multiple submitters dilated cardiomyopathy 1J
p.Gln322= Multiple submitters dilated cardiomyopathy 1J
p.Gln551= Multiple submitters Cardiovascular phenotype
p.Glu586= Multiple submitters dilated cardiomyopathy 1J
p.Gly171= Multiple submitters Cardiovascular phenotype
p.Gly225= Multiple submitters dilated cardiomyopathy 1J
p.Gly242= Multiple submitters Cardiovascular phenotype
p.Gly389= Multiple submitters Cardiovascular phenotype
p.Gly474= Multiple submitters Cardiovascular phenotype
p.Gly504= Multiple submitters dilated cardiomyopathy 1J
p.Leu220= Multiple submitters Cardiovascular phenotype
p.Leu319= Multiple submitters dilated cardiomyopathy 1J
p.Leu416= Multiple submitters dilated cardiomyopathy 1J
p.Leu512= Multiple submitters Cardiovascular phenotype
p.Leu514= Multiple submitters Cardiovascular phenotype
p.Leu560= Multiple submitters dilated cardiomyopathy 1J
p.Lys203= Multiple submitters Cardiovascular phenotype
p.Lys507= Multiple submitters Cardiovascular phenotype
p.Phe226= Multiple submitters Cardiovascular phenotype
p.Phe326= Multiple submitters Cardiovascular phenotype
p.Pro214= Multiple submitters Cardiovascular phenotype
p.Pro229= Multiple submitters Cardiovascular phenotype
p.Pro247= Multiple submitters Cardiovascular phenotype
p.Pro271= Multiple submitters dilated cardiomyopathy 1J
p.Pro332= Multiple submitters Cardiovascular phenotype
p.Pro362= Multiple submitters Cardiovascular phenotype
p.Pro399= Multiple submitters Cardiovascular phenotype
p.Pro569= Multiple submitters Cardiovascular phenotype
p.Ser182= Multiple submitters Cardiovascular phenotype
p.Ser248= Multiple submitters dilated cardiomyopathy 1J
p.Ser333= Multiple submitters dilated cardiomyopathy 1J
p.Ser439= Multiple submitters dilated cardiomyopathy 1J
p.Ser462= Multiple submitters dilated cardiomyopathy 1J
p.Ser537= Multiple submitters Cardiovascular phenotype
p.Thr108= Multiple submitters Cardiovascular phenotype
p.Thr15= Multiple submitters Cardiovascular phenotype
p.Thr17= Multiple submitters dilated cardiomyopathy 1J
p.Thr184= Multiple submitters Cardiovascular phenotype
p.Thr211= Multiple submitters Cardiovascular phenotype
p.Thr343= Multiple submitters Cardiovascular phenotype
p.Thr379= Multiple submitters Cardiovascular phenotype
p.Thr388= Multiple submitters dilated cardiomyopathy 1J
p.Thr404= Multiple submitters dilated cardiomyopathy 1J
p.Thr494= Multiple submitters Cardiovascular phenotype
p.Thr548= Multiple submitters dilated cardiomyopathy 1J
p.Thr64= Multiple submitters Cardiovascular phenotype
p.Tyr193= Multiple submitters Cardiovascular phenotype
p.Tyr281= Multiple submitters Cardiovascular phenotype
p.Tyr391= Multiple submitters Cardiovascular phenotype
p.Val488= Multiple submitters Cardiovascular phenotype
p.Val545= Multiple submitters Cardiovascular phenotype
p.Val597= Multiple submitters dilated cardiomyopathy 1J
p.Pro102= Single submitter Cardiovascular phenotype
p.Gly443= Single submitter dilated cardiomyopathy 1J
p.Gly473= Single submitter dilated cardiomyopathy 1J
p.Val488= Single submitter dilated cardiomyopathy 1J
p.Val499= Single submitter Cardiovascular phenotype
p.Leu552= Single submitter dilated cardiomyopathy 1J
c.1107+11T>C Single submitter dilated cardiomyopathy 1J
c.1107+12C>T Single submitter dilated cardiomyopathy 1J
c.1107+16C>A Single submitter dilated cardiomyopathy 1J
c.1107+16C>G Single submitter dilated cardiomyopathy 1J
c.1107+7C>G Single submitter dilated cardiomyopathy 1J
c.1107+7C>T Single submitter dilated cardiomyopathy 1J
c.1107+8T>A Single submitter dilated cardiomyopathy 1J
c.1108-13T>G Single submitter dilated cardiomyopathy 1J
c.1108-158_1108-155dup Single submitter
c.1108-19dup Single submitter dilated cardiomyopathy 1J
c.1108-5_1108-3dup Single submitter dilated cardiomyopathy 1J
c.1108-5T>C Single submitter dilated cardiomyopathy 1J
c.1108-86C>T Single submitter
c.1191+12A>G Single submitter dilated cardiomyopathy 1J
c.1191+13_1191+15del Single submitter dilated cardiomyopathy 1J
c.1191+18_1191+20dup Single submitter dilated cardiomyopathy 1J
c.1191+18G>A Single submitter dilated cardiomyopathy 1J
c.1191+272dup Single submitter
c.1192-13A>G Single submitter dilated cardiomyopathy 1J
c.1192-14C>T Single submitter dilated cardiomyopathy 1J
c.1192-20T>C Single submitter dilated cardiomyopathy 1J
c.1192-24_1192-20del Single submitter dilated cardiomyopathy 1J
c.1281+17G>A Single submitter dilated cardiomyopathy 1J
c.1281+20_1281+21inv Single submitter dilated cardiomyopathy 1J
c.1281+23A>G Single submitter
c.1282-11G>A Single submitter dilated cardiomyopathy 1J
c.1282-16C>G Single submitter dilated cardiomyopathy 1J
c.1282-311G>A Single submitter
c.1282-6T>A Single submitter dilated cardiomyopathy 1J
c.1340+16_1340+19del Single submitter dilated cardiomyopathy 1J
c.1340+19T>C Single submitter dilated cardiomyopathy 1J
c.1340+20A>G Single submitter dilated cardiomyopathy 1J
c.1341-16A>T Single submitter dilated cardiomyopathy 1J
c.1341-17T>C Single submitter dilated cardiomyopathy 1J
c.1341-18G>A Single submitter dilated cardiomyopathy 1J
c.1502-11T>C Single submitter dilated cardiomyopathy 1J
c.1502-12T>C Single submitter dilated cardiomyopathy 1J
c.1502-15T>A Single submitter dilated cardiomyopathy 1J
c.1616+11T>G Single submitter dilated cardiomyopathy 1J
c.1616+130G>A Single submitter
c.1616+14T>A Single submitter dilated cardiomyopathy 1J
c.1616+158GA[11] Single submitter
c.1616+158GA[12] Single submitter
c.1616+158GA[7] Single submitter
c.1616+175A>T Single submitter
c.1616+188GT[18] Single submitter
c.1616+8G>A Single submitter dilated cardiomyopathy 1J
c.1616+9A>C Single submitter dilated cardiomyopathy 1J
c.1617-20A>G Single submitter dilated cardiomyopathy 1J
c.1738+13T>A Single submitter dilated cardiomyopathy 1J
c.1738+16T>C Single submitter dilated cardiomyopathy 1J
c.1738+8A>G Single submitter dilated cardiomyopathy 1J
c.1739-11T>C Single submitter dilated cardiomyopathy 1J
c.1739-16C>A Single submitter dilated cardiomyopathy 1J
c.1739-20T>G Single submitter dilated cardiomyopathy 1J
c.1739-4C>G Single submitter dilated cardiomyopathy 1J
c.1739-69T>C Single submitter
c.1739-9A>G Single submitter dilated cardiomyopathy 1J
c.1839+13A>T Single submitter dilated cardiomyopathy 1J
c.1839+20G>C Single submitter dilated cardiomyopathy 1J
c.1840-11T>G Single submitter dilated cardiomyopathy 1J
c.1840-13_1840-11del Single submitter dilated cardiomyopathy 1J
c.1840-13C>T Single submitter dilated cardiomyopathy 1J
c.1840-14T>G Single submitter dilated cardiomyopathy 1J
c.1840-4A>T Single submitter dilated cardiomyopathy 1J
c.208+10C>T Single submitter dilated cardiomyopathy 1J
c.208+12A>T Single submitter dilated cardiomyopathy 1J
c.208+14C>A Single submitter dilated cardiomyopathy 1J
c.208+17G>C Single submitter dilated cardiomyopathy 1J
c.208+20G>C Single submitter dilated cardiomyopathy 1J
c.208+261A>G Single submitter
c.208+7G>A Single submitter dilated cardiomyopathy 1J
c.208+7G>T Single submitter dilated cardiomyopathy 1J
c.209-14G>C Single submitter dilated cardiomyopathy 1J
c.277+11T>A Single submitter dilated cardiomyopathy 1J
c.277+282A>G Single submitter
c.278-13T>C Single submitter dilated cardiomyopathy 1J
c.278-18A>C Single submitter dilated cardiomyopathy 1J
c.278-18A>G Single submitter dilated cardiomyopathy 1J
c.278-20G>A Single submitter dilated cardiomyopathy 1J
c.33+10C>T Single submitter dilated cardiomyopathy 1J
c.33+11A>C Single submitter dilated cardiomyopathy 1J
c.33+12T>C Single submitter dilated cardiomyopathy 1J
c.33+19T>C Single submitter dilated cardiomyopathy 1J
c.33+37C>G Single submitter
c.34-16T>A Single submitter dilated cardiomyopathy 1J
c.34-16T>C Single submitter dilated cardiomyopathy 1J
c.34-17G>C Single submitter dilated cardiomyopathy 1J
c.370+106del Single submitter
c.370+14C>G Single submitter dilated cardiomyopathy 1J
c.370+17G>A Single submitter dilated cardiomyopathy 1J
c.370+17G>C Single submitter dilated cardiomyopathy 1J
c.371-11G>A Single submitter dilated cardiomyopathy 1J
c.371-17A>G Single submitter dilated cardiomyopathy 1J
c.437+11A>G Single submitter dilated cardiomyopathy 1J
c.438-11C>G Single submitter dilated cardiomyopathy 1J
c.438-14T>C Single submitter dilated cardiomyopathy 1J
c.438-17A>G Single submitter dilated cardiomyopathy 1J
c.438-8A>G Single submitter dilated cardiomyopathy 1J
c.580+15_580+16del Single submitter dilated cardiomyopathy 1J
c.580+17G>A Single submitter dilated cardiomyopathy 1J
c.580+8A>C Single submitter dilated cardiomyopathy 1J
c.580+9C>T Single submitter dilated cardiomyopathy 1J
c.581-12T>C Single submitter dilated cardiomyopathy 1J
c.581-15C>G Single submitter dilated cardiomyopathy 1J
c.581-17T>C Single submitter dilated cardiomyopathy 1J
c.581-7T>C Single submitter dilated cardiomyopathy 1J
c.724+11A>G Single submitter dilated cardiomyopathy 1J
c.724+15A>G Single submitter dilated cardiomyopathy 1J
c.724+9C>G Single submitter dilated cardiomyopathy 1J
c.725-14T>C Single submitter dilated cardiomyopathy 1J
c.725-15G>A Single submitter dilated cardiomyopathy 1J
c.725-15G>T Single submitter dilated cardiomyopathy 1J
c.725-173T>C Single submitter
c.725-19A>C Single submitter dilated cardiomyopathy 1J
c.725-19A>G Single submitter dilated cardiomyopathy 1J
c.725-20A>G Single submitter dilated cardiomyopathy 1J
c.725-264A>G Single submitter
c.725-5T>C Single submitter dilated cardiomyopathy 1J
c.725-8A>G Single submitter dilated cardiomyopathy 1J
c.804+10C>G Single submitter dilated cardiomyopathy 1J
c.805-254A>G Single submitter
c.83+11A>G Single submitter dilated cardiomyopathy 1J
c.83+11A>T Single submitter dilated cardiomyopathy 1J
c.83+20A>G Single submitter dilated cardiomyopathy 1J
c.83+21del Single submitter dilated cardiomyopathy 1J
c.83+275T>A Single submitter
c.83+6G>A Single submitter dilated cardiomyopathy 1J
c.84-14T>C Single submitter dilated cardiomyopathy 1J
c.84-283A>G Single submitter
c.84-9C>G Single submitter dilated cardiomyopathy 1J
c.970+10T>C Single submitter dilated cardiomyopathy 1J
c.970+12C>T Single submitter dilated cardiomyopathy 1J
c.970+14C>A Single submitter dilated cardiomyopathy 1J
c.970+19G>A Single submitter dilated cardiomyopathy 1J
c.970+8T>A Single submitter dilated cardiomyopathy 1J
c.970+9C>G Single submitter dilated cardiomyopathy 1J
c.971-11G>T Single submitter dilated cardiomyopathy 1J
c.971-17del Single submitter dilated cardiomyopathy 1J
c.971-6C>G Single submitter dilated cardiomyopathy 1J
c.971-6C>T Single submitter dilated cardiomyopathy 1J
c.971-8A>T Single submitter dilated cardiomyopathy 1J
c.*1142del Single submitter
c.*2425C>T Single submitter
c.*737dup Single submitter
p.Ala135= Single submitter Cardiovascular phenotype
p.Ala157= Single submitter
p.Ala176= Single submitter Cardiovascular phenotype
p.Ala180= Single submitter Cardiovascular phenotype
p.Ala292= Single submitter dilated cardiomyopathy 1J
p.Ala463= Single submitter
p.Ala506= Single submitter dilated cardiomyopathy 1J
p.Ala555= Single submitter dilated cardiomyopathy 1J
p.Ala567= Single submitter dilated cardiomyopathy 1J
p.Arg356= Single submitter Cardiovascular phenotype
p.Asn415= Single submitter dilated cardiomyopathy 1J
p.Asn464= Single submitter
p.Asn493= Single submitter Cardiovascular phenotype
p.Asn497= Single submitter Cardiovascular phenotype
p.Asp114= Single submitter dilated cardiomyopathy 1J
p.Asp118= Single submitter dilated cardiomyopathy 1J
p.Asp269= Single submitter dilated cardiomyopathy 1J
p.Asp340= Single submitter Cardiovascular phenotype
p.Asp435= Single submitter dilated cardiomyopathy 1J
p.Asp441= Single submitter Cardiovascular phenotype
p.Asp476= Single submitter dilated cardiomyopathy 1J
p.Cys344= Single submitter Cardiovascular phenotype
p.Cys429= Single submitter dilated cardiomyopathy 1J
p.Gln166= Single submitter dilated cardiomyopathy 1J
p.Gln174= Single submitter Cardiovascular phenotype
p.Gln186= Single submitter dilated cardiomyopathy 1J
p.Gln233= Single submitter dilated cardiomyopathy 1J
p.Gln25= Single submitter dilated cardiomyopathy 1J
p.Gln280= Single submitter dilated cardiomyopathy 1J
p.Gln632= Single submitter dilated cardiomyopathy 1J
p.Glu18= Single submitter Cardiovascular phenotype
p.Glu205= Single submitter dilated cardiomyopathy 1J
p.Glu490= Single submitter Cardiovascular phenotype
p.Gly324= Single submitter dilated cardiomyopathy 1J
p.Gly355= Single submitter dilated cardiomyopathy 1J
p.Gly473= Single submitter dilated cardiomyopathy 1J
p.Gly593= Single submitter dilated cardiomyopathy 1J
p.His384= Single submitter Cardiovascular phenotype
p.His420= Single submitter dilated cardiomyopathy 1J
p.His433= Single submitter Cardiovascular phenotype
p.Ile380= Single submitter dilated cardiomyopathy 1J
p.Ile553= Single submitter dilated cardiomyopathy 1J
p.Leu103= Single submitter dilated cardiomyopathy 1J
p.Leu142= Single submitter dilated cardiomyopathy 1J
p.Leu190= Single submitter Cardiovascular phenotype
p.Leu195= Single submitter dilated cardiomyopathy 1J
p.Leu386= Single submitter dilated cardiomyopathy 1J
p.Leu387= Single submitter dilated cardiomyopathy 1J
p.Leu407= Single submitter Cardiovascular phenotype
p.Leu491= Single submitter Cardiovascular phenotype
p.Leu502= Single submitter dilated cardiomyopathy 1J
p.Leu521= Single submitter
p.Leu526= Single submitter dilated cardiomyopathy 1J
p.Leu552= Single submitter dilated cardiomyopathy 1J
p.Lys52= Single submitter dilated cardiomyopathy 1J
p.Lys531= Single submitter Cardiovascular phenotype
p.Lys578= Single submitter dilated cardiomyopathy 1J
p.Phe245= Single submitter dilated cardiomyopathy 1J
p.Pro102= Single submitter dilated cardiomyopathy 1J
p.Pro132= Single submitter dilated cardiomyopathy 1J
p.Pro149= Single submitter dilated cardiomyopathy 1J
p.Pro187= Single submitter dilated cardiomyopathy 1J
p.Pro224= Single submitter dilated cardiomyopathy 1J
p.Pro317= Single submitter dilated cardiomyopathy 1J
p.Pro363= Single submitter Cardiovascular phenotype
p.Pro88= Single submitter Cardiovascular phenotype

Uncertain significance 649

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

p.Met478Ile Multiple submitters Cardiovascular phenotype ⚠
c.1282-13A>G Multiple submitters dilated cardiomyopathy 1J
c.1340+3A>G Multiple submitters dilated cardiomyopathy 1J
c.1739-118G>A Multiple submitters
c.1739-85_1739-81del Multiple submitters
c.1840-2dup Multiple submitters Cardiovascular phenotype
c.970+5A>G Multiple submitters autosomal dominant nonsyndromic hearing loss 10
c.971-3T>C Multiple submitters dilated cardiomyopathy 1J
c.-2A>G Multiple submitters Cardiovascular phenotype
c.*1532G>A Multiple submitters dilated cardiomyopathy 1J
c.*1551G>T Multiple submitters dilated cardiomyopathy 1J
c.*1943C>T Multiple submitters dilated cardiomyopathy 1J
c.*2049T>C Multiple submitters dilated cardiomyopathy 1J
c.*2511G>A Multiple submitters dilated cardiomyopathy 1J
c.*3226A>C Multiple submitters dilated cardiomyopathy 1J
c.*3267C>A Multiple submitters dilated cardiomyopathy 1J
c.*732A>G Multiple submitters dilated cardiomyopathy 1J
p.Ala201Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 10 ⚠
p.Ala253Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala275Asp Multiple submitters dilated cardiomyopathy 1J
p.Ala275Gly Multiple submitters dilated cardiomyopathy 1J ⚠
p.Ala275Val Multiple submitters dilated cardiomyopathy 1J ⚠
p.Ala287Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala292Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala292Val Multiple submitters dilated cardiomyopathy 1J ⚠
p.Ala402Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala458Glu Multiple submitters Cardiovascular phenotype ⚠
p.Ala460Glu Multiple submitters dilated cardiomyopathy 1J ⚠
p.Ala482Val Multiple submitters dilated cardiomyopathy 1J ⚠
p.Ala516Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala79Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala91Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg356Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 10 ⚠
p.Arg356Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg356Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg370Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg408Cys Multiple submitters dilated cardiomyopathy 1J ⚠
p.Arg408His Multiple submitters Cardiovascular phenotype ⚠
p.Arg472Thr Multiple submitters dilated cardiomyopathy 1J ⚠
p.Arg484His Multiple submitters Cardiovascular phenotype ⚠
p.Arg508Thr Multiple submitters Cardiovascular phenotype ⚠
p.Arg587Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg587Pro Multiple submitters dilated cardiomyopathy 1J ⚠
p.Asn321Asp Multiple submitters Cardiovascular phenotype ⚠
p.Asn321His Multiple submitters dilated cardiomyopathy 1J ⚠
p.Asn442Ser Multiple submitters dilated cardiomyopathy 1J ⚠
p.Asn72Ser Multiple submitters dilated cardiomyopathy 1J ⚠
p.Asp269Val Multiple submitters dilated cardiomyopathy 1J ⚠
p.Asp301Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp327His Multiple submitters dilated cardiomyopathy 1J ⚠
p.Asp340Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp398Tyr Multiple submitters dilated cardiomyopathy 1J ⚠
p.Asp3Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp418Gly Multiple submitters dilated cardiomyopathy 1J ⚠
p.Asp435Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp440Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp440His Multiple submitters dilated cardiomyopathy 1J ⚠
p.Asp445Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp46Gly Multiple submitters dilated cardiomyopathy 1J ⚠
p.Asp6Asn Multiple submitters Cardiovascular phenotype ⚠
p.Cys344Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Cys429Ser Multiple submitters dilated cardiomyopathy 1J ⚠
p.Cys542Gly Multiple submitters Cardiovascular phenotype ⚠
p.Gln137Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln186Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln216Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln23Leu Multiple submitters dilated cardiomyopathy 1J ⚠
p.Gln280Lys Multiple submitters dilated cardiomyopathy 1J ⚠
p.Gln283Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln311Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln33Pro Multiple submitters Cardiovascular phenotype ⚠
p.Gln444Lys Multiple submitters dilated cardiomyopathy 1J ⚠
p.Glu2Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu325Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu428Asp Multiple submitters dilated cardiomyopathy 1J ⚠
p.Glu517Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu54Val Multiple submitters Cardiovascular phenotype ⚠
p.Glu608del Multiple submitters Cardiovascular phenotype
p.Glu608Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu71Lys Multiple submitters dilated cardiomyopathy 1J
p.Glu9Ala Multiple submitters Cardiovascular phenotype ⚠
p.Gly165Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly171Val Multiple submitters dilated cardiomyopathy 1J ⚠
p.Gly265Ser Multiple submitters Cardiovascular phenotype ⚠
p.Gly277Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly348Glu Multiple submitters dilated cardiomyopathy 1J ⚠
p.Gly355Asp Multiple submitters dilated cardiomyopathy 1J ⚠
p.Gly389Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly396Asp Multiple submitters dilated cardiomyopathy 1J ⚠
p.Gly44Asp Multiple submitters dilated cardiomyopathy 1J ⚠
p.Gly501Ala Multiple submitters Cardiovascular phenotype ⚠
p.Gly566Ser Multiple submitters dilated cardiomyopathy 1J ⚠
p.Gly580Arg Multiple submitters dilated cardiomyopathy 1J ⚠
p.His136Arg Multiple submitters dilated cardiomyopathy 1J ⚠
p.His39Arg Multiple submitters Cardiovascular phenotype ⚠
p.His420Arg Multiple submitters Cardiovascular phenotype ⚠
p.His631Gln Multiple submitters Cardiovascular phenotype ⚠
p.Ile125Thr Multiple submitters dilated cardiomyopathy 1J ⚠
p.Ile151Thr Multiple submitters dilated cardiomyopathy 1J ⚠
p.Ile151Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile434Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile518Thr Multiple submitters dilated cardiomyopathy 1J ⚠
p.Ile535Val Multiple submitters dilated cardiomyopathy 1J ⚠
p.Ile570Val Multiple submitters dilated cardiomyopathy 1J ⚠
p.Leu117Phe Multiple submitters dilated cardiomyopathy 1J ⚠
p.Leu152Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu195Phe Multiple submitters dilated cardiomyopathy 1J ⚠
p.Leu208Pro Multiple submitters Cardiovascular phenotype ⚠
p.Leu316Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu319Val Multiple submitters dilated cardiomyopathy 1J ⚠
p.Leu421Val Multiple submitters dilated cardiomyopathy 1J ⚠
p.Leu53Pro Multiple submitters Cardiovascular phenotype ⚠
p.Lys13Asn Multiple submitters Cardiovascular phenotype
p.Lys13Glu Multiple submitters Cardiovascular phenotype ⚠
p.Lys146Asn Multiple submitters dilated cardiomyopathy 1J ⚠
p.Lys14Glu Multiple submitters Cardiovascular phenotype ⚠
p.Lys337Arg Multiple submitters Cardiovascular phenotype ⚠
p.Lys489Arg Multiple submitters dilated cardiomyopathy 1J ⚠
p.Lys489Asn Multiple submitters dilated cardiomyopathy 1J ⚠
p.Lys507Thr Multiple submitters Cardiovascular phenotype ⚠
p.Lys52Arg Multiple submitters dilated cardiomyopathy 1J ⚠
p.Lys52Thr Multiple submitters dilated cardiomyopathy 1J ⚠
p.Lys531Thr Multiple submitters Cardiovascular phenotype ⚠
p.Lys581Arg Multiple submitters Cardiovascular phenotype ⚠
p.Lys595Gln Multiple submitters Cardiovascular phenotype ⚠
p.Met160Val Multiple submitters dilated cardiomyopathy 1J ⚠
p.Met1Thr Multiple submitters Cardiovascular phenotype
p.Met30Arg Multiple submitters dilated cardiomyopathy 1J ⚠
p.Met30Lys Multiple submitters Cardiovascular phenotype ⚠
p.Met30Thr Multiple submitters Cardiovascular phenotype ⚠
p.Met401Thr Multiple submitters dilated cardiomyopathy 1J ⚠
p.Met409Arg Multiple submitters dilated cardiomyopathy 1J ⚠
p.Met478Ile Multiple submitters Cardiovascular phenotype ⚠
p.Met589Thr Multiple submitters dilated cardiomyopathy 1J ⚠
p.Met616Leu Multiple submitters dilated cardiomyopathy 1J ⚠
p.Met616Lys Multiple submitters dilated cardiomyopathy 1J ⚠
p.Met73Val Multiple submitters Cardiovascular phenotype ⚠
p.Phe326Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro155Ser Multiple submitters dilated cardiomyopathy 1J ⚠
p.Pro191Thr Multiple submitters dilated cardiomyopathy 1J ⚠
p.Pro214Gln Multiple submitters Cardiovascular phenotype ⚠
p.Pro229Gln Multiple submitters dilated cardiomyopathy 1J ⚠
p.Pro229Leu Multiple submitters dilated cardiomyopathy 1J ⚠
p.Pro235Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro241Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro247Arg Multiple submitters Cardiovascular phenotype
p.Pro271Ala Multiple submitters Cardiovascular phenotype ⚠
p.Pro360Thr Multiple submitters dilated cardiomyopathy 1J
p.Pro362Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 10 ⚠
p.Pro88Arg Multiple submitters Cardiovascular phenotype ⚠
p.Pro88Leu Multiple submitters dilated cardiomyopathy 1J ⚠
p.Ser11Leu Multiple submitters dilated cardiomyopathy 1J ⚠
p.Ser153Cys Multiple submitters Cardiovascular phenotype ⚠
p.Ser170Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ser209Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ser223Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ser258Pro Multiple submitters autosomal dominant nonsyndromic hearing loss 10 ⚠
p.Ser264Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ser296Leu Multiple submitters dilated cardiomyopathy 1J ⚠
p.Ser308Cys Multiple submitters Cardiovascular phenotype ⚠
p.Ser37Asn Multiple submitters Cardiovascular phenotype ⚠
p.Ser439Phe Multiple submitters dilated cardiomyopathy 1J ⚠
p.Ser439Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Ser447Ile Multiple submitters Cardiovascular phenotype ⚠
p.Ser50Cys Multiple submitters Cardiovascular phenotype ⚠
p.Ser51Phe Multiple submitters dilated cardiomyopathy 1J ⚠
p.Ser84Asn Multiple submitters Cardiovascular phenotype ⚠
p.Thr126Arg Multiple submitters Cardiovascular phenotype
p.Thr15Ala Multiple submitters Cardiovascular phenotype ⚠
p.Thr15Met Multiple submitters dilated cardiomyopathy 1J ⚠
p.Thr15Pro Multiple submitters dilated cardiomyopathy 1J ⚠
p.Thr184Ala Multiple submitters dilated cardiomyopathy 1J ⚠
p.Thr211Pro Multiple submitters Cardiovascular phenotype ⚠
p.Thr228Ile Multiple submitters dilated cardiomyopathy 1J ⚠
p.Thr234Ile Multiple submitters autosomal dominant nonsyndromic hearing loss 10 ⚠
p.Thr250Ser Multiple submitters Cardiovascular phenotype ⚠
p.Thr261Ala Multiple submitters Cardiovascular phenotype ⚠
p.Thr261Met Multiple submitters Cardiovascular phenotype ⚠
p.Thr307Ala Multiple submitters Cardiovascular phenotype ⚠
p.Thr328Ile Multiple submitters Cardiovascular phenotype ⚠
p.Thr334Ile Multiple submitters Cardiovascular phenotype ⚠
p.Thr404Asn Multiple submitters dilated cardiomyopathy 1J ⚠
p.Thr40Ile Multiple submitters Cardiovascular phenotype ⚠
p.Thr453Asn Multiple submitters dilated cardiomyopathy 1J ⚠
p.Thr61Ile Multiple submitters Cardiovascular phenotype ⚠
p.Thr78Arg Multiple submitters dilated cardiomyopathy 1J ⚠
p.Thr87Ile Multiple submitters dilated cardiomyopathy 1J ⚠
p.Thr92Ala Multiple submitters Cardiovascular phenotype ⚠
p.Tyr148Phe Multiple submitters Cardiovascular phenotype ⚠
p.Tyr163Cys Multiple submitters dilated cardiomyopathy 1J ⚠
p.Tyr181Cys Multiple submitters Cardiovascular phenotype ⚠
p.Tyr193Cys Multiple submitters dilated cardiomyopathy 1J ⚠
p.Tyr193Phe Multiple submitters dilated cardiomyopathy 1J ⚠
p.Tyr236Cys Multiple submitters Cardiovascular phenotype ⚠
p.Tyr238His Multiple submitters Cardiovascular phenotype ⚠
p.Tyr270Cys Multiple submitters Cardiovascular phenotype ⚠
p.Tyr273Ser Multiple submitters Cardiovascular phenotype ⚠
p.Tyr293Cys Multiple submitters dilated cardiomyopathy 1J ⚠
p.Tyr562Cys Multiple submitters Cardiovascular phenotype ⚠
p.Val177Ile Multiple submitters dilated cardiomyopathy 1J ⚠
p.Val197Ala Multiple submitters Cardiovascular phenotype ⚠
p.Val21Gly Multiple submitters dilated cardiomyopathy 1J ⚠
p.Val257Ala Multiple submitters dilated cardiomyopathy 1J ⚠
p.Val382Leu Multiple submitters Cardiovascular phenotype ⚠
p.Val42Leu Multiple submitters dilated cardiomyopathy 1J ⚠
p.Val432Leu Multiple submitters Cardiovascular phenotype ⚠
p.Val437Ile Multiple submitters dilated cardiomyopathy 1J ⚠
p.Val471Ile Multiple submitters Cardiovascular phenotype ⚠
p.Val499Gly Multiple submitters Cardiovascular phenotype ⚠
p.Val547Ile Multiple submitters dilated cardiomyopathy 1J ⚠
p.Val596Ile Multiple submitters Cardiovascular phenotype ⚠
p.Val596Leu Multiple submitters dilated cardiomyopathy 1J ⚠
p.Val599Ile Multiple submitters Cardiovascular phenotype ⚠
p.Ala463= Single submitter dilated cardiomyopathy 1J
p.Pro468= Single submitter dilated cardiomyopathy 1J
c.1107+4T>C Single submitter dilated cardiomyopathy 1J
c.1191+4_1191+5insT Single submitter dilated cardiomyopathy 1J
c.1191+5_1191+8delinsTG Single submitter Cardiovascular phenotype
c.1191+6_1191+8del Single submitter dilated cardiomyopathy 1J
c.1192-3C>T Single submitter dilated cardiomyopathy 1J
c.1192-6T>C Single submitter
c.1281+3A>C Single submitter
c.1282-3C>T Single submitter dilated cardiomyopathy 1J
c.1341-10G>A Single submitter
c.1341-3C>G Single submitter Cardiovascular phenotype
c.1341-3C>T Single submitter dilated cardiomyopathy 1J
c.1341-40_1356dup Single submitter dilated cardiomyopathy 1J
c.1341-8T>C Single submitter
c.1501+6T>C Single submitter dilated cardiomyopathy 1J
c.1502-6T>C Single submitter dilated cardiomyopathy 1J
c.1617-5T>A Single submitter dilated cardiomyopathy 1J
c.1739-116A>T Single submitter
c.1739-118G>T Single submitter
c.1739-121A>G Single submitter
c.1739-14_1739-6del Single submitter dilated cardiomyopathy 1J
c.1739-151A>G Single submitter
c.1739-42C>A Single submitter
c.1739-70A>T Single submitter
c.1739-76T>C Single submitter
c.1739-83G>C Single submitter
c.1839+4A>C Single submitter dilated cardiomyopathy 1J
c.1839+6C>T Single submitter dilated cardiomyopathy 1J
c.208+3A>G Single submitter dilated cardiomyopathy 1J
c.208+6T>C Single submitter dilated cardiomyopathy 1J
c.209-10C>A Single submitter dilated cardiomyopathy 1J
c.209-2A>G Single submitter
c.277+3A>G Single submitter dilated cardiomyopathy 1J
c.278-9_278-7del Single submitter dilated cardiomyopathy 1J
c.33+5G>A Single submitter Cardiovascular phenotype
c.33+5G>C Single submitter dilated cardiomyopathy 1J
c.371-11del Single submitter
c.371-15_371-14insAG Single submitter autosomal dominant nonsyndromic hearing loss 10
c.371-3C>T Single submitter Cardiovascular phenotype
c.371-6T>A Single submitter dilated cardiomyopathy 1J
c.437+14A>G Single submitter dilated cardiomyopathy 1J
c.437+3A>G Single submitter dilated cardiomyopathy 1J
c.437+7G>C Single submitter dilated cardiomyopathy 1J
c.438-4T>G Single submitter
c.438-6A>T Single submitter
c.580+4T>C Single submitter dilated cardiomyopathy 1J
c.580+5T>G Single submitter dilated cardiomyopathy 1J
c.83+6G>C Single submitter dilated cardiomyopathy 1J
c.83+6G>T Single submitter dilated cardiomyopathy 1J
c.970+3A>G Single submitter dilated cardiomyopathy 1J
c.970+6del Single submitter dilated cardiomyopathy 1J
c.971-3T>A Single submitter dilated cardiomyopathy 1J
c.-124C>T Single submitter dilated cardiomyopathy 1J
c.-14A>G Single submitter
c.-256C>T Single submitter dilated cardiomyopathy 1J
c.-408G>T Single submitter dilated cardiomyopathy 1J
c.-430T>C Single submitter dilated cardiomyopathy 1J
c.-5A>T Single submitter Cardiovascular phenotype
c.*1346C>T Single submitter dilated cardiomyopathy 1J
c.*1363G>A Single submitter dilated cardiomyopathy 1J
c.*1440C>A Single submitter dilated cardiomyopathy 1J
c.*1513T>C Single submitter dilated cardiomyopathy 1J
c.*15C>T Single submitter dilated cardiomyopathy 1J
c.*1600G>A Single submitter dilated cardiomyopathy 1J
c.*1744G>A Single submitter dilated cardiomyopathy 1J
c.*1770T>C Single submitter autosomal dominant nonsyndromic hearing loss 10
c.*1812G>T Single submitter dilated cardiomyopathy 1J
c.*2010A>G Single submitter dilated cardiomyopathy 1J
c.*222G>A Single submitter dilated cardiomyopathy 1J
c.*2269C>T Single submitter dilated cardiomyopathy 1J
c.*2360G>A Single submitter dilated cardiomyopathy 1J
c.*2377C>T Single submitter dilated cardiomyopathy 1J
c.*2439G>A Single submitter dilated cardiomyopathy 1J
c.*265G>A Single submitter dilated cardiomyopathy 1J
c.*2660T>C Single submitter dilated cardiomyopathy 1J
c.*2750C>A Single submitter dilated cardiomyopathy 1J
c.*2759G>A Single submitter dilated cardiomyopathy 1J
c.*308G>T Single submitter dilated cardiomyopathy 1J
c.*3121A>G Single submitter dilated cardiomyopathy 1J
c.*3132C>T Single submitter dilated cardiomyopathy 1J
c.*3160C>T Single submitter dilated cardiomyopathy 1J
c.*3211T>G Single submitter dilated cardiomyopathy 1J
c.*333G>A Single submitter dilated cardiomyopathy 1J
c.*347T>C Single submitter dilated cardiomyopathy 1J
c.*379C>A Single submitter autosomal dominant nonsyndromic hearing loss 10
c.*566G>T Single submitter dilated cardiomyopathy 1J