CSRP3 — 473 ClinVar variants

All ClinVar germline CSRP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 227 flagged for review →

21 Pathogenic · 3 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 33 Conflicting · 17 Benign · 8 Benign/Likely benign · 114 Likely benign · 266 Uncertain significance

Full CSRP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 227

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.

CSRP3 p.Thr16Ser Likely pathogenic No assertion criteria
dilated cardiomyopathy

Predictors agree, ClinVar conflicts 13

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

CSRP3 p.Ala112Pro Conflicting Single submitter
Cardiovascular phenotype
CSRP3 p.Arg100Cys Conflicting Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Arg100His Conflicting Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Arg122Gln Conflicting Single submitter
Cardiovascular phenotype
CSRP3 p.Asn26Asp Conflicting Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Gln94Glu Conflicting Single submitter
Cardiovascular phenotype
CSRP3 p.Gly180Cys Conflicting Single submitter
Cardiovascular phenotype
CSRP3 p.Gly6Arg Conflicting Single submitter
Cardiovascular phenotype
CSRP3 p.Leu44Pro Conflicting Single submitter
Cardiovascular phenotype
CSRP3 p.Ser46Arg Conflicting Single submitter
Cardiovascular phenotype
CSRP3 p.Thr179Ala Conflicting Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Trp4Arg Conflicting Single submitter
Sudden unexplained death
CSRP3 p.Val190Leu Conflicting Single submitter
Cardiovascular phenotype

Predictors lean, ClinVar uncertain 143

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

CSRP3 p.Ala112Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1M
CSRP3 p.Ala148Val Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Ala173Val Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Ala50Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Ala50Val Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Ala77Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1M
CSRP3 p.Ala8Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Arg146Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Arg64Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Arg64His Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Arg64Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Asn158Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Asp45Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Cys10Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Cys10Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Cys120Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1M
CSRP3 p.Cys120Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Cys123Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Cys13Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Cys13Tyr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Cys147Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Cys171Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Cys171Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Cys37Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Cys79Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Glu118Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Glu14Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Glu191Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Glu53Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Glu55Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Gly135Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Gly180Val Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Gly182Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Gly184Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Gly6Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Gly70Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Gly72Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1M
CSRP3 p.Gly78Val Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.His31Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.His52Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.His52Tyr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Ile181Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Ile56Met Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Lys142Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Lys15Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Lys59Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Phe176Val Uncertain significance Multiple submitters
cardiomyopathy
CSRP3 p.Phe30Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Pro178Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Pro178Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Pro96Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Ser156Phe Uncertain significance Multiple submitters
dilated cardiomyopathy 1M
CSRP3 p.Ser95Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Tyr66Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Val133Ala Uncertain significance Multiple submitters
dilated cardiomyopathy 1M
CSRP3 p.Val133Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Val17Ile Uncertain significance Multiple submitters
CSRP3-related disorder
CSRP3 p.Ala112Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Ala129Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Ala129Val Uncertain significance Single submitter
Cardiovascular phenotype
CSRP3 p.Ala43Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Ala51Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Arg100Leu Uncertain significance Single submitter
CSRP3 p.Arg100Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Arg28Gly Uncertain significance Single submitter
CSRP3 p.Arg64Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy
CSRP3 p.Asn26Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Asp161Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Asp161His Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Cys120Phe Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Cys123Tyr Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Cys144Tyr Uncertain significance Single submitter
CSRP3 p.Cys150Phe Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Cys171Tyr Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Cys37Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Cys40Gly Uncertain significance Single submitter
CSRP3 p.Cys40Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Cys61Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Cys61Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Gln188Arg Uncertain significance Single submitter
CSRP3 p.Gln188Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Gln189Lys Uncertain significance Single submitter
Cardiovascular phenotype
CSRP3 p.Gln24His Uncertain significance Single submitter
Cardiovascular phenotype
CSRP3 p.Gln93Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Glu118Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Glu131Gln Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Glu165Ala Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Glu53Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Glu55Gly Uncertain significance Single submitter
CSRP3 p.Gly11Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Gly137Cys Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Gly151Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Gly164Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Gly180Ser Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Gly185Ser Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Gly5Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Gly63Trp Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Gly67Asp Uncertain significance Single submitter
Cardiovascular phenotype
CSRP3 p.Gly70Arg Uncertain significance Single submitter
CSRP3 p.Gly70Glu Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
CSRP3 p.Gly70Val Uncertain significance Single submitter
Cardiovascular phenotype
CSRP3 p.Gly72Trp Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Gly74Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.His141Gln Uncertain significance Single submitter
Cardiovascular phenotype
CSRP3 p.His19Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.His52Pro Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Leu154Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Leu154Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Leu166Arg Uncertain significance Single submitter
cardiomyopathy
CSRP3 p.Leu44Phe Uncertain significance Single submitter
Primrose syndrome
CSRP3 p.Leu80Phe Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Leu80Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Lys109Arg Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Lys132Arg Uncertain significance Single submitter
Cardiovascular phenotype
CSRP3 p.Lys132Asn Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Lys138Asn Uncertain significance Single submitter
Cardiovascular phenotype
CSRP3 p.Lys97Glu Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Met134Ile Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Met38Ile Uncertain significance Single submitter
Cardiovascular phenotype
CSRP3 p.Met38Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Phe30Ser Uncertain significance Single submitter
CSRP3 p.Pro178Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Pro2Gln Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Pro2Ser Uncertain significance Single submitter
Cardiovascular phenotype
CSRP3 p.Ser101Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Ser153Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Ser153Ile Uncertain significance Single submitter
Cardiovascular phenotype
CSRP3 p.Ser156Pro Uncertain significance Single submitter
Cardiovascular phenotype
CSRP3 p.Ser29Arg Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Ser46Asn Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Ser46Cys Uncertain significance Single submitter
Cardiovascular phenotype
CSRP3 p.Ser46Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Thr111Ser Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Thr179Lys Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Thr48Ile Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Thr48Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Thr82Arg Uncertain significance Single submitter
Cardiovascular phenotype
CSRP3 p.Tyr128His Uncertain significance Single submitter
cardiomyopathy
CSRP3 p.Tyr57His Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Tyr62Cys Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Tyr66Asn Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Val170Leu Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Val17Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy 12

Predictors split 70

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

CSRP3 p.Ala112Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Ala39Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Ala39Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Ala50Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Ala51Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Ala77Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Ala77Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Arg146Cys Uncertain significance Multiple submitters
cardiomyopathy
CSRP3 p.Arg146His Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Asn158His Uncertain significance Multiple submitters
dilated cardiomyopathy 1M
CSRP3 p.Gln91Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Gln94His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Glu194Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Glu86Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Gly89Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Gly89Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.His87Tyr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Ile181Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Leu166Val Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Leu90Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Lys15Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1M
CSRP3 p.Lys192Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Lys32Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1M
CSRP3 p.Lys69Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Lys9Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Met134Val Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Pro107Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
CSRP3 p.Pro96Leu Uncertain significance Multiple submitters
dilated cardiomyopathy 1M
CSRP3 p.Pro98Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Ser29Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Ser54Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Ser95Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Thr104Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 12
CSRP3 p.Thr179Met Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Thr33Met Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Thr47Met Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Thr84Met Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Val127Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
CSRP3 p.Ala129Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Ala12Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Asn175Ile Uncertain significance Single submitter
Cardiovascular phenotype
CSRP3 p.Asn175Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Asn3Lys Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Cys25Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Gln75Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Glu118Gly Uncertain significance Single submitter
Cardiovascular phenotype
CSRP3 p.Gly124Ser Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Gly89Ala Uncertain significance Single submitter
CSRP3-related disorder
CSRP3 p.His36Tyr Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Ile149Phe Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Lys113Met Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Lys113Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Lys119Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy
CSRP3 p.Lys152Arg Uncertain significance Single submitter
Cardiovascular phenotype
CSRP3 p.Pro107Ser Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Ser101Leu Conflicting Single submitter
cardiomyopathy
CSRP3 p.Ser117Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Ser126Leu Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Ser153Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Ser81Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Ser95Cys Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Thr104Ile Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Thr160Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Thr16Ile Uncertain significance Single submitter
CSRP3 p.Thr84Arg Uncertain significance Single submitter
Cardiovascular phenotype
CSRP3 p.Tyr172His Uncertain significance Single submitter
hypertrophic cardiomyopathy 12
CSRP3 p.Val133Leu Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Val159Ile Uncertain significance Single submitter
dilated cardiomyopathy 1M
CSRP3 p.Val170Phe Uncertain significance Single submitter
CSRP3 p.Val60Met Uncertain significance Single submitter
Cardiovascular phenotype

All CSRP3 variants

Pathogenic 21

p.Cys58Gly Multiple submitters Cardiovascular phenotype
p.Tyr18fs Multiple submitters Cardiovascular phenotype
p.Arg100fs Single submitter dilated cardiomyopathy 1M
p.Arg28fs Single submitter hypertrophic cardiomyopathy 12
p.Gln24fs Single submitter hypertrophic cardiomyopathy 12
p.Gln93fs Single submitter hypertrophic cardiomyopathy 12
p.His19fs Single submitter hypertrophic cardiomyopathy 12
p.Ile149fs Single submitter dilated cardiomyopathy 1M
p.Ile56fs Single submitter hypertrophic cardiomyopathy 12
p.Lys113Ter Single submitter hypertrophic cardiomyopathy 12
p.Lys125Ter Single submitter hypertrophic cardiomyopathy 12
p.Lys42fs Single submitter
p.Lys9fs Single submitter dilated cardiomyopathy 1M
p.Ser126Ter Single submitter hypertrophic cardiomyopathy 12
p.Ser54Ter Single submitter dilated cardiomyopathy 1M
p.Tyr18Ter Single submitter dilated cardiomyopathy 1M
p.Tyr62Ter Single submitter hypertrophic cardiomyopathy 12
p.Val102fs Single submitter dilated cardiomyopathy 1M
p.Val17fs Single submitter hypertrophic cardiomyopathy 12
p.Ser54_Glu55delinsArgGly No assertion criteria hypertrophic cardiomyopathy 12
p.Trp140Cys No assertion criteria dilated cardiomyopathy

Pathogenic/Likely pathogenic 3

p.Arg122Ter Multiple submitters hypertrophic cardiomyopathy 12
p.Cys150Tyr Multiple submitters Cardiovascular phenotype
p.Cys37Ter Multiple submitters hypertrophic cardiomyopathy 12

Likely pathogenic 11

c.414+1G>T Multiple submitters Cardiovascular phenotype
c.281+1G>C Single submitter dilated cardiomyopathy 1M
c.281+2T>C Single submitter hypertrophic cardiomyopathy 12
c.414+1G>A Single submitter hypertrophic cardiomyopathy 12
c.414+1G>C Single submitter dilated cardiomyopathy 1M
p.Met1Thr Single submitter
p.Phe145Cys Single submitter hypertrophic cardiomyopathy
c.282-1G>A No assertion criteria cardiomyopathy
p.Glu118= No assertion criteria dilated cardiomyopathy
p.Lys32= No assertion criteria dilated cardiomyopathy
p.Thr16Ser No assertion criteria dilated cardiomyopathy ⚠

Conflicting classifications of pathogenicity 33

c.112+1G>A Single submitter Cardiovascular phenotype
c.113-3C>A Single submitter hypertrophic cardiomyopathy 12
c.282-5_285del Single submitter hypertrophic cardiomyopathy 12
c.415-11G>T Single submitter hypertrophic cardiomyopathy 12
c.415-1G>T Single submitter Cardiovascular phenotype
c.415-2A>C Single submitter hypertrophic cardiomyopathy 12
c.509-3_509-2del Single submitter Cardiovascular phenotype
c.-3A>C Single submitter Cardiovascular phenotype
p.Ala112Pro Single submitter Cardiovascular phenotype ⚠
p.Ala43fs Single submitter hypertrophic cardiomyopathy 12
p.Arg100Cys Single submitter dilated cardiomyopathy 1M ⚠
p.Arg100His Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Arg122Gln Single submitter Cardiovascular phenotype ⚠
p.Asn26Asp Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Cys123Ter Single submitter familial hypertrophic cardiomyopathy
p.Gln94Glu Single submitter Cardiovascular phenotype ⚠
p.Glu22fs Single submitter dilated cardiomyopathy 1M
p.Gly180Cys Single submitter Cardiovascular phenotype ⚠
p.Gly6Arg Single submitter Cardiovascular phenotype ⚠
p.Leu154fs Single submitter Cardiovascular phenotype
p.Leu44Pro Single submitter Cardiovascular phenotype ⚠
p.Phe110fs Single submitter Cardiovascular phenotype
p.Pro121fs Single submitter Cardiovascular phenotype
p.Pro96fs Single submitter Cardiovascular phenotype
p.Ser101Leu Single submitter cardiomyopathy ⚠
p.Ser108= Single submitter hypertrophic cardiomyopathy 12
p.Ser46Arg Single submitter Cardiovascular phenotype ⚠
p.Ser54= Single submitter Cardiovascular phenotype
p.Thr179Ala Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Thr33= Single submitter Cardiovascular phenotype
p.Trp4Arg Single submitter Sudden unexplained death ⚠
p.Trp4fs Single submitter Cardiovascular phenotype
p.Val190Leu Single submitter Cardiovascular phenotype ⚠

Benign 17

c.113-92C>T Multiple submitters
c.282-147C>T Multiple submitters
c.415-96G>A Multiple submitters
c.508+73T>A Multiple submitters
c.509-110T>C Multiple submitters
c.*629T>C Multiple submitters hypertrophic cardiomyopathy 12
p.Ala112= Multiple submitters Cardiovascular phenotype
c.112+126T>C Single submitter
c.112+278T>C Single submitter
c.112+341G>C Single submitter
c.113-232G>A Single submitter
c.113-261C>T Single submitter
c.282-175G>T Single submitter
c.282-269C>T Single submitter
c.509-201C>T Single submitter
c.509-215T>C Single submitter
c.-46C>T Single submitter

Benign/Likely benign 8

c.508+18C>T Multiple submitters Cardiovascular phenotype
c.508+9T>C Multiple submitters hypertrophic cardiomyopathy 12
c.509-20C>A Multiple submitters hypertrophic cardiomyopathy 12
c.*12G>A Multiple submitters hypertrophic cardiomyopathy 12
p.Ala50= Multiple submitters hypertrophic cardiomyopathy 12
p.Ile71= Multiple submitters Cardiovascular phenotype
p.Lys109= Multiple submitters Cardiovascular phenotype
p.Thr104= Multiple submitters Cardiovascular phenotype

Likely benign 114

c.282-15G>A Multiple submitters dilated cardiomyopathy 1M
c.282-16C>A Multiple submitters hypertrophic cardiomyopathy 12
c.282-16C>T Multiple submitters hypertrophic cardiomyopathy 12
c.415-30T>C Multiple submitters
c.508+17A>T Multiple submitters hypertrophic cardiomyopathy 12
c.509-130C>T Multiple submitters
c.509-16C>T Multiple submitters hypertrophic cardiomyopathy 12
c.509-20C>T Multiple submitters dilated cardiomyopathy 1M
c.*450T>G Multiple submitters hypertrophic cardiomyopathy 12
p.Arg41= Multiple submitters Cardiovascular phenotype
p.Cys171= Multiple submitters dilated cardiomyopathy 1M
p.Cys40= Multiple submitters hypertrophic cardiomyopathy 12
p.Cys58= Multiple submitters hypertrophic cardiomyopathy 12
p.Glu155= Multiple submitters Cardiovascular phenotype
p.Glu86= Multiple submitters Cardiovascular phenotype
p.Gly5= Multiple submitters hypertrophic cardiomyopathy 12
p.Gly7= Multiple submitters Cardiovascular phenotype
p.Gly74= Multiple submitters hypertrophic cardiomyopathy 12
p.His36= Multiple submitters hypertrophic cardiomyopathy 12
p.His87= Multiple submitters Cardiovascular phenotype
p.Leu80= Multiple submitters hypertrophic cardiomyopathy 12
p.Leu88= Multiple submitters hypertrophic cardiomyopathy 12
p.Lys113= Multiple submitters hypertrophic cardiomyopathy 12
p.Lys152= Multiple submitters Cardiovascular phenotype
p.Phe30= Multiple submitters hypertrophic cardiomyopathy 12
p.Ser117= Multiple submitters Cardiovascular phenotype
p.Thr103= Multiple submitters hypertrophic cardiomyopathy 12
p.Thr16= Multiple submitters hypertrophic cardiomyopathy 12
p.Thr84= Multiple submitters cardiomyopathy
p.Tyr172= Multiple submitters hypertrophic cardiomyopathy 12
p.Tyr66= Multiple submitters dilated cardiomyopathy 1M
p.Val49= Multiple submitters hypertrophic cardiomyopathy 12
c.112+11T>C Single submitter hypertrophic cardiomyopathy 12
c.112+12G>A Single submitter dilated cardiomyopathy 1M
c.112+18C>G Single submitter dilated cardiomyopathy 1M
c.112+19C>T Single submitter hypertrophic cardiomyopathy 12
c.112+245T>G Single submitter
c.112+9G>A Single submitter dilated cardiomyopathy 1M
c.113-17C>A Single submitter dilated cardiomyopathy 1M
c.113-17C>T Single submitter hypertrophic cardiomyopathy 12
c.113-20A>T Single submitter hypertrophic cardiomyopathy 12
c.113-39T>C Single submitter
c.281+17C>T Single submitter dilated cardiomyopathy 1M
c.281+19C>A Single submitter dilated cardiomyopathy 1M
c.281+25T>G Single submitter
c.282-18T>C Single submitter dilated cardiomyopathy 1M
c.282-19A>G Single submitter dilated cardiomyopathy 1M
c.282-214T>G Single submitter
c.414+14T>C Single submitter dilated cardiomyopathy 1M
c.414+16T>C Single submitter hypertrophic cardiomyopathy 12
c.414+18A>G Single submitter dilated cardiomyopathy 1M
c.414+19G>A Single submitter dilated cardiomyopathy 1M
c.414+19G>T Single submitter dilated cardiomyopathy 1M
c.414+264A>G Single submitter
c.414+7C>A Single submitter hypertrophic cardiomyopathy 12
c.414+7C>T Single submitter dilated cardiomyopathy 1M
c.414+8C>T Single submitter hypertrophic cardiomyopathy 12
c.415-11G>A Single submitter dilated cardiomyopathy 1M
c.415-13C>T Single submitter dilated cardiomyopathy 1M
c.415-16T>C Single submitter hypertrophic cardiomyopathy 12
c.415-18C>G Single submitter hypertrophic cardiomyopathy 12
c.415-5C>T Single submitter dilated cardiomyopathy 1M
c.415-6C>T Single submitter dilated cardiomyopathy 1M
c.415-9G>C Single submitter hypertrophic cardiomyopathy 12
c.508+113del Single submitter
c.508+17A>G Single submitter hypertrophic cardiomyopathy 12
c.508+7G>T Single submitter dilated cardiomyopathy 1M
c.508+9_508+15dup Single submitter dilated cardiomyopathy 1M
c.509-5C>T Single submitter hypertrophic cardiomyopathy 12
c.509-8A>G Single submitter hypertrophic cardiomyopathy 12
c.-226G>A Single submitter
c.-236G>C Single submitter
c.-54G>T Single submitter
c.-70C>T Single submitter
c.*174T>C Single submitter
c.*8C>G Single submitter
p.Ala12= Single submitter dilated cardiomyopathy 1M
p.Ala77= Single submitter dilated cardiomyopathy 1M
p.Ala99= Single submitter dilated cardiomyopathy 1M
p.Arg100= Single submitter dilated cardiomyopathy 1M
p.Arg28= Single submitter Cardiovascular phenotype
p.Asn26= Single submitter Cardiovascular phenotype
p.Cys120= Single submitter dilated cardiomyopathy 1M
p.Gln91= Single submitter dilated cardiomyopathy 1M
p.Gln93= Single submitter hypertrophic cardiomyopathy 12
p.Glu116= Single submitter dilated cardiomyopathy 1M
p.Glu155Asp Single submitter
p.Glu194= Single submitter Cardiovascular phenotype
p.Gly115= Single submitter dilated cardiomyopathy 1M
p.Gly137= Single submitter hypertrophic cardiomyopathy 12
p.Gly164= Single submitter dilated cardiomyopathy 1M
p.Gly63= Single submitter dilated cardiomyopathy 1M
p.Gly67= Single submitter hypertrophic cardiomyopathy 12
p.Gly70= Single submitter hypertrophic cardiomyopathy 12
p.Gly72= Single submitter Cardiovascular phenotype
p.Gly76= Single submitter Cardiovascular phenotype
p.Gly78= Single submitter dilated cardiomyopathy 1M
p.Gly89= Single submitter hypertrophic cardiomyopathy 12
p.His19= Single submitter Cardiovascular phenotype
p.His52= Single submitter hypertrophic cardiomyopathy 12
p.Leu90= Single submitter dilated cardiomyopathy 1M
p.Lys42= Single submitter hypertrophic cardiomyopathy 12
p.Pro98= Single submitter hypertrophic cardiomyopathy 12
p.Ser95= Single submitter dilated cardiomyopathy 1M
p.Thr111= Single submitter dilated cardiomyopathy 1M
p.Thr160= Single submitter dilated cardiomyopathy 1M
p.Thr47= Single submitter dilated cardiomyopathy 1M
p.Thr48= Single submitter hypertrophic cardiomyopathy 12
p.Thr82= Single submitter dilated cardiomyopathy 1M
p.Tyr167= Single submitter hypertrophic cardiomyopathy 12
p.Tyr18= Single submitter Cardiovascular phenotype
p.Tyr73= Single submitter
p.Val127= Single submitter hypertrophic cardiomyopathy 12
p.Val17= Single submitter dilated cardiomyopathy 1M

Uncertain significance 266

c.113-3C>T Multiple submitters hypertrophic cardiomyopathy 12
c.414+6A>G Multiple submitters hypertrophic cardiomyopathy 12
c.-8602G>A Multiple submitters hypertrophic cardiomyopathy 12
c.*159C>T Multiple submitters hypertrophic cardiomyopathy 12
c.*245T>C Multiple submitters hypertrophic cardiomyopathy 12
c.*415A>G Multiple submitters hypertrophic cardiomyopathy 12
c.*559G>A Multiple submitters hypertrophic cardiomyopathy 12
c.*575T>C Multiple submitters hypertrophic cardiomyopathy 12
c.*638T>C Multiple submitters hypertrophic cardiomyopathy 12
p.Ala112Glu Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Ala112Val Multiple submitters dilated cardiomyopathy 1M ⚠
p.Ala148Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala173Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala39Asp Multiple submitters Cardiovascular phenotype ⚠
p.Ala39Gly Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Ala50Glu Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Ala50Thr Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Ala50Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala51Asp Multiple submitters Cardiovascular phenotype ⚠
p.Ala77Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala77Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala77Thr Multiple submitters dilated cardiomyopathy 1M ⚠
p.Ala8Thr Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Arg146Cys Multiple submitters cardiomyopathy ⚠
p.Arg146His Multiple submitters Cardiovascular phenotype ⚠
p.Arg146Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg64Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg64His Multiple submitters Cardiovascular phenotype ⚠
p.Arg64Ser Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Asn158Asp Multiple submitters Cardiovascular phenotype ⚠
p.Asn158His Multiple submitters dilated cardiomyopathy 1M ⚠
p.Asp45Asn Multiple submitters Cardiovascular phenotype ⚠
p.Cys10Arg Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Cys10Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Cys120Arg Multiple submitters dilated cardiomyopathy 1M ⚠
p.Cys120Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Cys123Arg Multiple submitters Cardiovascular phenotype ⚠
p.Cys13Arg Multiple submitters Cardiovascular phenotype ⚠
p.Cys13Tyr Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Cys147Arg Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Cys171Arg Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Cys171Gly Multiple submitters Cardiovascular phenotype ⚠
p.Cys37Arg Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Cys79Ser Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Gln189del Multiple submitters hypertrophic cardiomyopathy 12
p.Gln91Leu Multiple submitters Cardiovascular phenotype ⚠
p.Gln94His Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Glu118Lys Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Glu14Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu191Val Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Glu194Gln Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Glu53Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu55Lys Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Glu86Lys Multiple submitters Cardiovascular phenotype ⚠
p.Gly135Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly180Val Multiple submitters Cardiovascular phenotype ⚠
p.Gly182Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly184Glu Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Gly6Glu Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Gly70Trp Multiple submitters Cardiovascular phenotype ⚠
p.Gly72Arg Multiple submitters dilated cardiomyopathy 1M ⚠
p.Gly78Val Multiple submitters Cardiovascular phenotype ⚠
p.Gly85= Multiple submitters Cardiovascular phenotype
p.Gly89Cys Multiple submitters Cardiovascular phenotype ⚠
p.Gly89Ser Multiple submitters Cardiovascular phenotype ⚠
p.His31Gln Multiple submitters Cardiovascular phenotype ⚠
p.His52Gln Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.His52Tyr Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.His87Tyr Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Ile181Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile181Val Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Ile56Met Multiple submitters Cardiovascular phenotype ⚠
p.Leu166Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu90Pro Multiple submitters Cardiovascular phenotype ⚠
p.Lys142Glu Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Lys15Arg Multiple submitters dilated cardiomyopathy 1M ⚠
p.Lys15Glu Multiple submitters Cardiovascular phenotype ⚠
p.Lys192Asn Multiple submitters Cardiovascular phenotype ⚠
p.Lys192fs Multiple submitters Cardiovascular phenotype
p.Lys193fs Multiple submitters hypertrophic cardiomyopathy
p.Lys32Arg Multiple submitters dilated cardiomyopathy 1M ⚠
p.Lys59Glu Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Lys69Arg Multiple submitters Cardiovascular phenotype ⚠
p.Lys9Thr Multiple submitters Cardiovascular phenotype ⚠
p.Met134Val Multiple submitters Cardiovascular phenotype ⚠
p.Phe176Val Multiple submitters cardiomyopathy ⚠
p.Phe30Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro107Thr Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Pro178Ala Multiple submitters Cardiovascular phenotype ⚠
p.Pro178Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro96Leu Multiple submitters dilated cardiomyopathy 1M ⚠
p.Pro96Ser Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Pro98Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ser156Phe Multiple submitters dilated cardiomyopathy 1M ⚠
p.Ser29Asn Multiple submitters Cardiovascular phenotype ⚠
p.Ser54Leu Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Ser95Ala Multiple submitters Cardiovascular phenotype ⚠
p.Ser95Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ter195Arg Multiple submitters hypertrophic cardiomyopathy 12
p.Thr104Asn Multiple submitters hypertrophic cardiomyopathy 12 ⚠
p.Thr179= Multiple submitters hypertrophic cardiomyopathy 12
p.Thr179Met Multiple submitters Cardiovascular phenotype ⚠
p.Thr33Met Multiple submitters Cardiovascular phenotype ⚠
p.Thr47Met Multiple submitters Cardiovascular phenotype ⚠
p.Thr84Met Multiple submitters Cardiovascular phenotype ⚠
p.Tyr66Cys Multiple submitters Cardiovascular phenotype ⚠
p.Val127Ile Multiple submitters Cardiovascular phenotype ⚠
p.Val133Ala Multiple submitters dilated cardiomyopathy 1M ⚠
p.Val133Phe Multiple submitters Cardiovascular phenotype ⚠
p.Val17Ile Multiple submitters CSRP3-related disorder ⚠
c.112+3G>A Single submitter dilated cardiomyopathy 1M
c.112+4del Single submitter Cardiovascular phenotype
c.113-2A>C Single submitter hypertrophic cardiomyopathy 12
c.113-9T>C Single submitter cardiomyopathy
c.281+18_281+19delinsCG Single submitter dilated cardiomyopathy 1M
c.281+3G>A Single submitter dilated cardiomyopathy 1M
c.282-15G>C Single submitter hypertrophic cardiomyopathy 12
c.282-3C>G Single submitter hypertrophic cardiomyopathy 12
c.415-10T>A Single submitter dilated cardiomyopathy 1M
c.415-1G>A Single submitter hypertrophic cardiomyopathy 12
c.415-3C>A Single submitter dilated cardiomyopathy 1M
c.415-3C>T Single submitter dilated cardiomyopathy 1M
c.415-7_415-6delinsTA Single submitter hypertrophic cardiomyopathy 12
c.508+2T>C Single submitter hypertrophic cardiomyopathy 12
c.508+5G>C Single submitter dilated cardiomyopathy 1M
c.509-7T>G Single submitter cardiomyopathy
c.-157G>A Single submitter hypertrophic cardiomyopathy 12
c.-158A>G Single submitter hypertrophic cardiomyopathy 12
c.-163A>G Single submitter hypertrophic cardiomyopathy 12
c.-211C>T Single submitter hypertrophic cardiomyopathy 12
c.-28-17G>T Single submitter hypertrophic cardiomyopathy 12
c.-28-9T>A Single submitter
c.*292A>T Single submitter hypertrophic cardiomyopathy 12
c.*29C>T Single submitter Cardiovascular phenotype
c.*504A>G Single submitter hypertrophic cardiomyopathy 12
p.Ala112Gly Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Ala129Gly Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Ala129Ser Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Ala129Val Single submitter Cardiovascular phenotype ⚠
p.Ala12Gly Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Ala43Ser Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Ala51Ser Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Arg100Leu Single submitter ⚠
p.Arg100Ser Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Arg28Gly Single submitter ⚠
p.Arg64Leu Single submitter hypertrophic cardiomyopathy ⚠
p.Asn175fs Single submitter hypertrophic cardiomyopathy 12
p.Asn175Ile Single submitter Cardiovascular phenotype ⚠
p.Asn175Ser Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Asn26Lys Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Asn3Lys Single submitter dilated cardiomyopathy 1M ⚠
p.Asp161Asn Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Asp161His Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Cys120Phe Single submitter dilated cardiomyopathy 1M ⚠
p.Cys123Tyr Single submitter dilated cardiomyopathy 1M ⚠
p.Cys144Tyr Single submitter ⚠
p.Cys150Phe Single submitter dilated cardiomyopathy 1M ⚠
p.Cys171Tyr Single submitter dilated cardiomyopathy 1M ⚠
p.Cys25Ser Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Cys37fs Single submitter
p.Cys37Gly Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Cys40Gly Single submitter ⚠
p.Cys40Tyr Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Cys61Arg Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Cys61Tyr Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Gln188Arg Single submitter ⚠
p.Gln188Glu Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Gln189Lys Single submitter Cardiovascular phenotype ⚠
p.Gln24His Single submitter Cardiovascular phenotype ⚠
p.Gln75Glu Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Gln93Pro Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Glu118Asp Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Glu118Gly Single submitter Cardiovascular phenotype ⚠
p.Glu131Gln Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Glu165Ala Single submitter dilated cardiomyopathy 1M ⚠
p.Glu22Ter Single submitter Cardiovascular phenotype
p.Glu53Lys Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Glu55Gly Single submitter ⚠
p.Gly11Glu Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Gly124= Single submitter hypertrophic cardiomyopathy 12
p.Gly124Ser Single submitter dilated cardiomyopathy 1M ⚠
p.Gly137Cys Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Gly151Glu Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Gly164Arg Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Gly180fs Single submitter Cardiovascular phenotype
p.Gly180Ser Single submitter dilated cardiomyopathy 1M ⚠
p.Gly185Ser Single submitter dilated cardiomyopathy 1M ⚠
p.Gly5Asp Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Gly63Trp Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Gly67Asp Single submitter Cardiovascular phenotype ⚠
p.Gly6Ter Single submitter
p.Gly70Arg Single submitter ⚠
p.Gly70Glu Single submitter familial hypertrophic cardiomyopathy ⚠
p.Gly70Val Single submitter Cardiovascular phenotype ⚠
p.Gly72Trp Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Gly74Glu Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Gly89Ala Single submitter CSRP3-related disorder ⚠
p.His141Gln Single submitter Cardiovascular phenotype ⚠
p.His19Asp Single submitter hypertrophic cardiomyopathy 12 ⚠
p.His36Tyr Single submitter dilated cardiomyopathy 1M ⚠
p.His52Pro Single submitter dilated cardiomyopathy 1M ⚠
p.Ile149Phe Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Ile181fs Single submitter
p.Leu154Arg Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Leu154Val Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Leu166Arg Single submitter cardiomyopathy ⚠
p.Leu44Phe Single submitter Primrose syndrome ⚠
p.Leu80Phe Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Leu80Val Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Lys109Arg Single submitter dilated cardiomyopathy 1M ⚠
p.Lys113Met Single submitter dilated cardiomyopathy 1M ⚠
p.Lys113Thr Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Lys119Asn Single submitter hypertrophic cardiomyopathy ⚠
p.Lys132Arg Single submitter Cardiovascular phenotype ⚠
p.Lys132Asn Single submitter dilated cardiomyopathy 1M ⚠
p.Lys138Asn Single submitter Cardiovascular phenotype ⚠
p.Lys152Arg Single submitter Cardiovascular phenotype ⚠
p.Lys162fs Single submitter hypertrophic cardiomyopathy 1
p.Lys97Glu Single submitter dilated cardiomyopathy 1M ⚠
p.Met134Ile Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Met1Ile Single submitter Cardiovascular phenotype
p.Met1Lys Single submitter hypertrophic cardiomyopathy 12
p.Met38Ile Single submitter Cardiovascular phenotype ⚠
p.Met38Thr Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Phe30Ser Single submitter ⚠
p.Pro107Ser Single submitter dilated cardiomyopathy 1M ⚠
p.Pro178Leu Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Pro2Gln Single submitter dilated cardiomyopathy 1M ⚠
p.Pro2Ser Single submitter Cardiovascular phenotype ⚠
p.Ser101Thr Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Ser108fs Single submitter hypertrophic cardiomyopathy 12
p.Ser117Pro Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Ser126Leu Single submitter dilated cardiomyopathy 1M ⚠
p.Ser153Arg Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Ser153Asn Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Ser153Ile Single submitter Cardiovascular phenotype ⚠
p.Ser156Pro Single submitter Cardiovascular phenotype ⚠
p.Ser29Arg Single submitter dilated cardiomyopathy 1M ⚠
p.Ser46Asn Single submitter dilated cardiomyopathy 1M ⚠
p.Ser46Cys Single submitter Cardiovascular phenotype ⚠
p.Ser46Gly Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Ser81Asn Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Ser95Cys Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Thr104Ile Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Thr111Ser Single submitter dilated cardiomyopathy 1M ⚠
p.Thr157fs Single submitter hypertrophic cardiomyopathy 12
p.Thr160Asn Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Thr16Ile Single submitter ⚠
p.Thr179Lys Single submitter dilated cardiomyopathy 1M ⚠
p.Thr48Ile Single submitter dilated cardiomyopathy 1M ⚠
p.Thr48Lys Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Thr82Arg Single submitter Cardiovascular phenotype ⚠
p.Thr84Arg Single submitter Cardiovascular phenotype ⚠
p.Tyr128His Single submitter cardiomyopathy ⚠
p.Tyr172His Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Tyr172Ter Single submitter dilated cardiomyopathy 1M
p.Tyr57His Single submitter dilated cardiomyopathy 1M ⚠
p.Tyr62Cys Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Tyr66Asn Single submitter dilated cardiomyopathy 1M ⚠
p.Val133Leu Single submitter dilated cardiomyopathy 1M ⚠
p.Val159Ile Single submitter dilated cardiomyopathy 1M ⚠
p.Val170Leu Single submitter dilated cardiomyopathy 1M ⚠
p.Val170Phe Single submitter ⚠
p.Val17Asp Single submitter hypertrophic cardiomyopathy 12 ⚠
p.Val60= Single submitter Cardiovascular phenotype
p.Val60Met Single submitter Cardiovascular phenotype ⚠