DES — 1237 ClinVar variants

All ClinVar germline DES variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 628 flagged for review →

56 Pathogenic · 21 Pathogenic/Likely pathogenic · 41 Likely pathogenic · 98 Conflicting · 22 Benign · 19 Benign/Likely benign · 313 Likely benign · 667 Uncertain significance

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

⚑ Evidence disagreements 628

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.

DES p.Ser46Tyr Likely pathogenic Single submitter

Predictors agree, ClinVar conflicts 38

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

DES p.Ala135Val Conflicting Single submitter
Cardiovascular phenotype
DES p.Ala337Pro Conflicting Single submitter
myofibrillar myopathy 1
DES p.Arg127Pro Conflicting Single submitter
myofibrillar myopathy 1
DES p.Arg16Cys Conflicting Single submitter
myofibrillar myopathy 1
DES p.Arg212Gln Conflicting Single submitter
myofibrillar myopathy 1
DES p.Arg222His Conflicting Single submitter
myofibrillar myopathy 1
DES p.Arg227Cys Conflicting Single submitter
Cardiovascular phenotype
DES p.Arg278Pro Conflicting Single submitter
myofibrillar myopathy 1
DES p.Arg278Trp Conflicting Single submitter
Cardiovascular phenotype
DES p.Arg355Pro Conflicting Single submitter
myofibrillar myopathy 1
DES p.Arg415Trp Conflicting Single submitter
dilated cardiomyopathy 1I
DES p.Asn116Ile Conflicting Single submitter
myofibrillar myopathy 1
DES p.Asp399Tyr Conflicting Single submitter
myofibrillar myopathy 1
DES p.Glu108Lys Conflicting Single submitter
Cardiovascular phenotype
DES p.Glu246Lys Conflicting Single submitter
myofibrillar myopathy 1
DES p.Glu262Val Conflicting Single submitter
Cardiovascular phenotype
DES p.Gly44Ser Conflicting Single submitter
myofibrillar myopathy 1
DES p.Gly456Arg Conflicting Single submitter
myofibrillar myopathy 1
DES p.Gly84Ser Conflicting Single submitter
Cardiovascular phenotype
DES p.His326Tyr Conflicting Single submitter
myofibrillar myopathy 1
DES p.Ile123Asn Conflicting Single submitter
myofibrillar myopathy 1
DES p.Ile402Phe Conflicting Single submitter
cardiomyopathy
DES p.Ile402Thr Conflicting Single submitter
myofibrillar myopathy 1
DES p.Ile451Met Conflicting Single submitter
Cardiovascular phenotype
DES p.Leu136Pro Conflicting Single submitter
myofibrillar myopathy 1
DES p.Leu154Ile Conflicting Single submitter
myofibrillar myopathy 1
DES p.Leu190Pro Conflicting Single submitter
limb-girdle muscular dystrophy
DES p.Leu274Arg Conflicting Single submitter
myofibrillar myopathy 1
DES p.Pro419Leu Conflicting Single submitter
myofibrillar myopathy 1
DES p.Ser13Pro Conflicting Single submitter
myofibrillar myopathy 1
DES p.Thr219Ile Conflicting Single submitter
myofibrillar myopathy 1
DES p.Thr453Ile Conflicting Single submitter
myofibrillar myopathy 1
DES p.Thr77Ala Conflicting Single submitter
myofibrillar myopathy 1
DES p.Trp295Gly Conflicting Single submitter
myofibrillar myopathy 1
DES p.Tyr122Cys Conflicting Single submitter
myofibrillar myopathy 1
DES p.Tyr405Ser Conflicting Single submitter
myofibrillar myopathy 1
DES p.Val215Met Conflicting Single submitter
myofibrillar myopathy 1
DES p.Val394Met Conflicting Single submitter
myofibrillar myopathy 1

Predictors lean, ClinVar uncertain 336

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 336

DES p.Ala120Gly Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ala137Val Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ala192Val Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ala209Pro Uncertain significance Multiple submitters
dilated cardiomyopathy 1I
DES p.Ala213Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ala21Thr Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ala237Val Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ala273Pro Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ala273Ser Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ala273Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ala285Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ala337Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ala360Val Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ala38Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ala397Thr Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ala71Gly Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ala71Val Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg105Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg105Leu Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg10Cys Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg118Cys Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg127Gly Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg142Pro Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg163Pro Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg173Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg222Cys Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg222Gly Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg227His Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg227Leu Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg228Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg275Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg315Cys Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg315Leu Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg325Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg375Gln Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg37Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg383Ser Uncertain significance Multiple submitters
DES-related disorder
DES p.Arg386Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg386Leu Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg406Gln Uncertain significance Multiple submitters
DES-related disorder
DES p.Arg415Gln Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg415Gly Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg429Gln Uncertain significance Multiple submitters
dilated cardiomyopathy 1I
DES p.Arg436Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg70Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg78Leu Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Asn116Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Asn171Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Asn288Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Asn311Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Asn366Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Asn427Ser Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Asp117His Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Asp181Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Asp181His Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Asp214Tyr Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Asp455Val Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Asp90His Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Cys333Arg Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Cys333Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Gln329Pro Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Glu108Gly Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Glu124Gly Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Glu153Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Glu158Val Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Glu161Lys Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Glu167Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Glu203Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Glu234Lys Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Glu249Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Glu282Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Glu282Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Glu334Lys Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Glu373Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Glu452Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Gly19Arg Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Gly27Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Gly340Asp Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Gly39Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.His243Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.His243Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ile123Met Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ile123Ser Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ile123Val Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ile198Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ile335Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ile420Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Leu112Arg Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Leu136His Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Leu154His Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Leu187Arg Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Leu187Pro Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Leu208Ser Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Leu208Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Leu232Phe Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Leu385Val Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Leu391Pro Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Leu88Met Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Lys191Glu Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Lys201Arg Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Met265Thr Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Met265Val Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Met321Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Met321Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Met321Val Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Met346Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Phe35Leu Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Pro148Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ser13Tyr Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ser266Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ser344Pro Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ser47Arg Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ser82Phe Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Thr104Arg Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Thr332Ile Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Thr450Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Thr79Pro Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Tyr14His Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Tyr331Asn Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Val110Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Val126Leu Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Val242Glu Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Val49Ala Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Val53Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ala137Asp Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala137Thr Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala210Val Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala21Asp Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala21Ser Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala279Thr Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala285Gly Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala286Ser Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala337Ser Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala403Asp Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala403Ser Uncertain significance Single submitter
Cardiovascular phenotype
DES p.Ala425Thr Uncertain significance Single submitter
Cardiovascular phenotype
DES p.Ala462Asp Uncertain significance Single submitter
Cardiovascular phenotype
DES p.Ala4Thr Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala63Ser Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala71Ser Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala85Val Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala94Pro Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Arg105Gly Uncertain significance Single submitter
DES p.Arg10Ser Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Arg118Ser Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Arg142Gln Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Arg15Cys Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Arg15Gly Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Arg15Pro Uncertain significance Single submitter
Cardiovascular phenotype
DES p.Arg180Leu Uncertain significance Single submitter
myofibrillar myopathy 1

Predictors split 253

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 253

DES p.Ala135Gly Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ala174Thr Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ala204Ser Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ala204Thr Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ala217Val Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ala221Val Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ala237Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ala237Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ala313Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ala337Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ala360Ser Uncertain significance Multiple submitters
neurogenic scapuloperoneal syndrome, Kaeser type
DES p.Ala397Ser Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ala425Pro Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ala63Asp Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ala94Val Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ala96Ser Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg146Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg150Gln Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg15Ser Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg163Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg175His Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg189Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg189Trp Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg248Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg248His Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg248Leu Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg315His Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg350Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg355Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg369Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg375Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg37Trp Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg383Cys Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg386His Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg454Gln Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Arg58Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Arg78Cys Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Asn107Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Asn121His Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Asn182Thr Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Asn308Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Asn311Asp Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Asn393Ser Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Asp177Asn Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Asp181Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Asp185Asn Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Asp185Val Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Asp186Glu Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Asp302Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Asp343Asn Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Asp455Asn Uncertain significance Multiple submitters
dilated cardiomyopathy 1I
DES p.Gln131Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Gln165Arg Uncertain significance Multiple submitters
neurogenic scapuloperoneal syndrome, Kaeser type
DES p.Gln364Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Gln421Arg Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Gln99Glu Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Glu100Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Glu139Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Glu147Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Glu156Lys Uncertain significance Multiple submitters
neurogenic scapuloperoneal syndrome, Kaeser type
DES p.Glu161Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Glu167Gln Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Glu167Gly Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Glu179Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Glu205Asp Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Glu256Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Glu468Asp Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Gly23Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Gly61Asp Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Gly62Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Gly65Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Gly67Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.His441Leu Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ile236Val Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ile367Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ile367Val Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Leu136Val Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Leu220Val Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Leu254Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Leu26His Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Leu66Met Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Leu69Pro Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Lys109Arg Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Met346Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Met349Ile Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Pro22Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ser266Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ser290Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ser31Arg Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ser31Cys Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Ser6Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Thr104Met Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Thr442Asn Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Thr442Ile Pathogenic Multiple submitters
myofibrillar myopathy 1
DES p.Thr445Ala Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Thr463Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Val259Ile Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Val34Met Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Val459Ile Benign/Likely benign Multiple submitters
Cardiovascular phenotype
DES p.Val56Glu Uncertain significance Multiple submitters
myofibrillar myopathy 1
DES p.Val56Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
DES p.Ala134Glu Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala134Val Uncertain significance Single submitter
DES p.Ala204Gly Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala213Val Conflicting Single submitter
Cardiovascular phenotype
DES p.Ala306Val Uncertain significance Single submitter
DES p.Ala307Ser Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala368Glu Uncertain significance Single submitter
Cardiovascular phenotype
DES p.Ala382Thr Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala38Val Uncertain significance Single submitter
Cardiovascular phenotype
DES p.Ala4Asp Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala63Val Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala85Thr Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala94Thr Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Ala96Gly Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Arg10His Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Arg127His Uncertain significance Single submitter
DES p.Arg146Leu Uncertain significance Single submitter
Cardiovascular phenotype
DES p.Arg160Gln Uncertain significance Single submitter
DES p.Arg160Trp Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Arg164Ser Uncertain significance Single submitter
Cardiovascular phenotype
DES p.Arg16Ser Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Arg173Gly Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Arg173His Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Arg175Cys Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Arg350Leu Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Arg350Trp Conflicting Single submitter
Cardiovascular phenotype
DES p.Arg355Gly Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Arg369His Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Arg37Leu Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Arg383His Conflicting Single submitter
myofibrillar myopathy 1
DES p.Arg52His Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Arg52Ser Conflicting Single submitter
Cardiovascular phenotype
DES p.Arg58Cys Uncertain significance Single submitter
Cardiovascular phenotype
DES p.Arg70Gln Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Arg70Trp Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Arg73Gln Conflicting Single submitter
myofibrillar myopathy 1
DES p.Asn107Asp Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Asn107His Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Asn206Lys Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Asn308His Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Asn366Asp Uncertain significance Single submitter
Cardiovascular phenotype
DES p.Asn427Ile Uncertain significance Single submitter
DES p.Asn427Tyr Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Asp177Ala Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Asp186Asn Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Asp264Asn Uncertain significance Single submitter
myofibrillar myopathy 1
DES p.Asp312Ala Conflicting Single submitter
Cardiovascular phenotype
DES p.Asp312Asn Conflicting Single submitter
Cardiovascular phenotype
DES p.Asp354Asn Uncertain significance Single submitter
Cardiovascular phenotype

All DES variants

Pathogenic 56

c.735+3A>G Multiple submitters myofibrillar myopathy 1
p.Arg350Pro Multiple submitters myofibrillar myopathy 1
p.Gln253Ter Multiple submitters myofibrillar myopathy 1
p.Leu370Pro Multiple submitters myofibrillar myopathy 1
p.Lys125Ter Multiple submitters myofibrillar myopathy 1
p.Pro419fs Multiple submitters myofibrillar myopathy 1
p.Ser13Phe Multiple submitters myofibrillar myopathy 1
p.Thr442Ile Multiple submitters myofibrillar myopathy 1 ⚠
p.Thr76fs Multiple submitters dilated cardiomyopathy 1I
p.Tyr405fs Multiple submitters myofibrillar myopathy 1
c.1289-741G>A Single submitter
c.578+2T>C Single submitter myofibrillar myopathy 1
c.735+1G>T Single submitter myofibrillar myopathy 1
p.Ala357Pro Single submitter myofibrillar myopathy
p.Ala38fs Single submitter myofibrillar myopathy 1
p.Arg52fs Single submitter myofibrillar myopathy 1
p.Asn116_Asp117delinsTer Single submitter myofibrillar myopathy 1
p.Asn342Asp Single submitter myofibrillar myopathy 1
p.Gln132Ter Single submitter myofibrillar myopathy 1
p.Gln172Ter Single submitter myofibrillar myopathy 1
p.Gln257Ter Single submitter myofibrillar myopathy 1
p.Gln348Pro Single submitter myofibrillar myopathy 1
p.Gln348Ter Single submitter myofibrillar myopathy 1
p.Gln364_Arg369del Single submitter myofibrillar myopathy 1
p.Gln364Ter Single submitter myofibrillar myopathy 1
p.Glu234Ter Single submitter myofibrillar myopathy 1
p.Glu334Ter Single submitter myofibrillar myopathy 1
p.Glu359_Ser361del Single submitter myofibrillar myopathy 1
p.Glu413Ter Single submitter myofibrillar myopathy 1
p.Gly41fs Single submitter myofibrillar myopathy 1
p.Ile420fs Single submitter myofibrillar myopathy 1
p.Leu115Ile Single submitter myofibrillar myopathy 1
p.Leu115Phe Single submitter myofibrillar myopathy 1
p.Leu184fs Single submitter myofibrillar myopathy 1
p.Leu190fs Single submitter myofibrillar myopathy 1
p.Leu200Ter Single submitter myofibrillar myopathy 1
p.Leu338Arg Single submitter myofibrillar myopathy 1
p.Leu391fs Single submitter myofibrillar myopathy 1
p.Leu66fs Single submitter myofibrillar myopathy 1
p.Lys378fs Single submitter myofibrillar myopathy 1
p.Met447fs Single submitter myofibrillar myopathy 1
p.Phe101fs Single submitter myofibrillar myopathy 1
p.Ser68fs Single submitter myofibrillar myopathy 1
p.Thr104fs Single submitter myofibrillar myopathy 1
p.Tyr83Ter Single submitter myofibrillar myopathy 1
p.Val151fs Single submitter myofibrillar myopathy 1
p.Val176fs Single submitter myofibrillar myopathy 1
c.639+4_639+5del No assertion criteria myofibrillar myopathy 1
c.640-1G>A No assertion criteria myofibrillar myopathy 1
p.Ala174_Arg180del No assertion criteria myofibrillar myopathy 1
p.Ala360Pro No assertion criteria myofibrillar myopathy 1
p.Gln113_Leu115del No assertion criteria myofibrillar myopathy 1
p.Gln165_Ala174delinsAlaSer No assertion criteria dilated cardiomyopathy 1S
p.Gln389Pro No assertion criteria myofibrillar myopathy 1
p.Glu353_Asp354insGlu No assertion criteria myofibrillar myopathy 1
p.Lys241del No assertion criteria myofibrillar myopathy 1

Pathogenic/Likely pathogenic 21

c.1289-2A>G Multiple submitters myofibrillar myopathy 1
c.735+1G>A Multiple submitters myofibrillar myopathy 1
c.735+1G>C Multiple submitters myofibrillar myopathy 1
p.Ala120Pro Multiple submitters myofibrillar myopathy 1
p.Ala134fs Multiple submitters myofibrillar myopathy 1
p.Arg212Ter Multiple submitters myofibrillar myopathy 1
p.Arg325Ter Multiple submitters myofibrillar myopathy 1
p.Arg406Trp Multiple submitters Cardiovascular phenotype
p.Arg454Trp Multiple submitters myofibrillar myopathy 1
p.Asn116Ser Multiple submitters myofibrillar myopathy 1
p.Gln3Ter Multiple submitters myofibrillar myopathy 1
p.Gln55Ter Multiple submitters myofibrillar myopathy 1
p.Glu245Asp Multiple submitters myofibrillar myopathy 1
p.Glu401Asp Multiple submitters Cardiovascular phenotype
p.Glu413Lys Multiple submitters myofibrillar myopathy 1
p.Gly86fs Multiple submitters myofibrillar myopathy 1
p.Leu345Pro Multiple submitters myofibrillar myopathy 1
p.Lys449Thr Multiple submitters myofibrillar myopathy 1
p.Pro419Ser Multiple submitters myofibrillar myopathy 1
p.Ser12Phe Multiple submitters myofibrillar myopathy 1
p.Ser2Ile Multiple submitters myofibrillar myopathy 1

Likely pathogenic 41

c.579-2A>C Multiple submitters myofibrillar myopathy 1
p.Ala285Val Multiple submitters myofibrillar myopathy 1
p.Glu401Gly Multiple submitters myofibrillar myopathy 1
p.His384Arg Multiple submitters myofibrillar myopathy 1
p.Leu377Pro Multiple submitters myofibrillar myopathy 1
p.Lys318fs Multiple submitters cardiomyopathy
c.1244+1G>A Single submitter myofibrillar myopathy 1
c.1371+1G>C Single submitter
c.732_735+3del Single submitter myofibrillar myopathy 1
c.735+2T>C Single submitter
c.735+2T>G Single submitter myofibrillar myopathy 1
c.736-1G>A Single submitter DES-related cardiomyopathy
p.Ala120Asp Single submitter myofibrillar myopathy 1
p.Ala317Pro Single submitter myofibrillar myopathy 1
p.Arg127Cys Single submitter myofibrillar myopathy 1
p.Arg406Pro Single submitter myofibrillar myopathy 1
p.Asp343_Ser344dup Single submitter myofibrillar myopathy 1
p.Gln316fs Single submitter dilated cardiomyopathy 1I
p.Glu108fs Single submitter dilated cardiomyopathy 1I
p.Glu202fs Single submitter
p.Glu387delinsThrArgThrCysTrp Single submitter Bradycardia
p.Glu401Lys Single submitter myofibrillar myopathy 1
p.Glu413fs Single submitter myofibrillar myopathy 1
p.Leu274His Single submitter myofibrillar myopathy 1
p.Leu274Pro Single submitter myofibrillar myopathy 1
p.Leu338Pro Single submitter myofibrillar myopathy 1
p.Leu345fs Single submitter myofibrillar myopathy 1
p.Leu352Ser Single submitter myofibrillar myopathy 1
p.Leu385Pro Single submitter limb-girdle muscular dystrophy
p.Leu408fs Single submitter
p.Lys449Glu Single submitter myofibrillar myopathy 1
p.Met1Arg Single submitter myofibrillar myopathy 1
p.Met1Ile Single submitter myofibrillar myopathy 1
p.Met1Thr Single submitter myofibrillar myopathy 1
p.Ser424fs Single submitter dilated cardiomyopathy 1I
p.Ser46Tyr Single submitter ⚠
p.Thr422fs Single submitter dilated cardiomyopathy 1I
p.Tyr122Asp Single submitter
p.Tyr423fs Single submitter dilated cardiomyopathy 1I
p.Ala273fs No assertion criteria
p.Gln280Ter No assertion criteria

Conflicting classifications of pathogenicity 98

c.1024-3C>A Single submitter myofibrillar myopathy 1
c.1288+1G>A Single submitter Cardiovascular phenotype
c.1288+2T>C Single submitter myofibrillar myopathy 1
c.1371+1G>A Single submitter Cardiovascular phenotype
c.1372-3dup Single submitter myofibrillar myopathy 1
c.1372-6C>T Single submitter myofibrillar myopathy 1
c.1372-8C>T Single submitter myofibrillar myopathy 1
c.579-5C>T Single submitter myofibrillar myopathy 1
c.639+7G>A Single submitter
c.735+11G>A Single submitter myofibrillar myopathy 1
c.736-8C>A Single submitter myofibrillar myopathy 1
c.898-5C>T Single submitter Cardiovascular phenotype
c.-7C>G Single submitter dilated cardiomyopathy 1I
c.*112C>G Single submitter myofibrillar myopathy 1
c.*198G>A Single submitter myofibrillar myopathy 1
c.*308C>A Single submitter myofibrillar myopathy 1
c.*51C>A Single submitter myofibrillar myopathy 1
p.Ala135Val Single submitter Cardiovascular phenotype ⚠
p.Ala21= Single submitter Cardiovascular phenotype
p.Ala213Val Single submitter Cardiovascular phenotype ⚠
p.Ala337Pro Single submitter myofibrillar myopathy 1 ⚠
p.Arg127Pro Single submitter myofibrillar myopathy 1 ⚠
p.Arg16Cys Single submitter myofibrillar myopathy 1 ⚠
p.Arg212Gln Single submitter myofibrillar myopathy 1 ⚠
p.Arg222His Single submitter myofibrillar myopathy 1 ⚠
p.Arg227Cys Single submitter Cardiovascular phenotype ⚠
p.Arg278Pro Single submitter myofibrillar myopathy 1 ⚠
p.Arg278Trp Single submitter Cardiovascular phenotype ⚠
p.Arg350= Single submitter myofibrillar myopathy 1
p.Arg350Trp Single submitter Cardiovascular phenotype ⚠
p.Arg355Pro Single submitter myofibrillar myopathy 1 ⚠
p.Arg355Ter Single submitter Cardiovascular phenotype
p.Arg383His Single submitter myofibrillar myopathy 1 ⚠
p.Arg386= Single submitter cardiomyopathy
p.Arg415Trp Single submitter dilated cardiomyopathy 1I ⚠
p.Arg429Ter Single submitter neuromuscular disease
p.Arg52Ser Single submitter Cardiovascular phenotype ⚠
p.Arg70= Single submitter myofibrillar myopathy 1
p.Arg73Gln Single submitter myofibrillar myopathy 1 ⚠
p.Asn116Ile Single submitter myofibrillar myopathy 1 ⚠
p.Asn308= Single submitter Cardiovascular phenotype
p.Asn366del Single submitter myofibrillar myopathy 1
p.Asp214= Single submitter Cardiovascular phenotype
p.Asp312Ala Single submitter Cardiovascular phenotype ⚠
p.Asp312Asn Single submitter Cardiovascular phenotype ⚠
p.Asp399Tyr Single submitter myofibrillar myopathy 1 ⚠
p.Cys333= Single submitter myofibrillar myopathy 1
p.Gln172= Single submitter myofibrillar myopathy 1
p.Gln329Ter Single submitter myofibrillar myopathy 1
p.Gln466Ter Single submitter myofibrillar myopathy 1
p.Glu100= Single submitter myofibrillar myopathy 1
p.Glu108Lys Single submitter Cardiovascular phenotype ⚠
p.Glu108Ter Single submitter Cardiovascular phenotype
p.Glu245= Single submitter Cardiovascular phenotype
p.Glu246Lys Single submitter myofibrillar myopathy 1 ⚠
p.Glu256= Single submitter myofibrillar myopathy 1
p.Glu262Val Single submitter Cardiovascular phenotype ⚠
p.Glu468= Single submitter Cardiovascular phenotype
p.Gly44Ser Single submitter myofibrillar myopathy 1 ⚠
p.Gly456Arg Single submitter myofibrillar myopathy 1 ⚠
p.Gly65Ser Single submitter dilated cardiomyopathy 1I ⚠
p.Gly84Ser Single submitter Cardiovascular phenotype ⚠
p.His326Tyr Single submitter myofibrillar myopathy 1 ⚠
p.Ile123Asn Single submitter myofibrillar myopathy 1 ⚠
p.Ile123fs Single submitter myofibrillar myopathy 1
p.Ile236= Single submitter Cardiovascular phenotype
p.Ile402Phe Single submitter cardiomyopathy ⚠
p.Ile402Thr Single submitter myofibrillar myopathy 1 ⚠
p.Ile451= Single submitter Cardiovascular phenotype
p.Ile451Met Single submitter Cardiovascular phenotype ⚠
p.Leu136Pro Single submitter myofibrillar myopathy 1 ⚠
p.Leu154Ile Single submitter myofibrillar myopathy 1 ⚠
p.Leu190Pro Single submitter limb-girdle muscular dystrophy ⚠
p.Leu274= Single submitter Cardiovascular phenotype
p.Leu274Arg Single submitter myofibrillar myopathy 1 ⚠
p.Lys201fs Single submitter neuromuscular disease
p.Met1Val Single submitter myofibrillar myopathy 1
p.Pro419= Single submitter Cardiovascular phenotype
p.Pro419Leu Single submitter myofibrillar myopathy 1 ⚠
p.Ser13Pro Single submitter myofibrillar myopathy 1 ⚠
p.Ser298Leu Single submitter Cardiovascular phenotype ⚠
p.Ser57Leu Single submitter Cardiovascular phenotype ⚠
p.Ser6= Single submitter Cardiovascular phenotype
p.Ser68_Leu69= Single submitter myofibrillar myopathy 1
p.Ser72Arg Single submitter Cardiovascular phenotype ⚠
p.Ter471Gln Single submitter myofibrillar myopathy 1
p.Ter471Ser Single submitter myofibrillar myopathy 1
p.Thr219Ile Single submitter myofibrillar myopathy 1 ⚠
p.Thr453Ile Single submitter myofibrillar myopathy 1 ⚠
p.Thr77Ala Single submitter myofibrillar myopathy 1 ⚠
p.Thr79= Single submitter myofibrillar myopathy 1
p.Trp295Gly Single submitter myofibrillar myopathy 1 ⚠
p.Trp295Ter Single submitter Cardiovascular phenotype
p.Tyr122Cys Single submitter myofibrillar myopathy 1 ⚠
p.Tyr155= Single submitter myofibrillar myopathy 1
p.Tyr405Ser Single submitter myofibrillar myopathy 1 ⚠
p.Val215Met Single submitter myofibrillar myopathy 1 ⚠
p.Val394Met Single submitter myofibrillar myopathy 1 ⚠

Benign 22

c.578+11G>A Multiple submitters myofibrillar myopathy 1
c.578+64T>G Multiple submitters
c.579-100G>C Multiple submitters
c.579-38C>T Multiple submitters myofibrillar myopathy 1
c.735+20C>T Multiple submitters myofibrillar myopathy 1
c.-230C>T Multiple submitters
c.-30_-18dup Multiple submitters
p.Ala368= Multiple submitters Cardiovascular phenotype
p.Asp276= Multiple submitters Cardiovascular phenotype
p.Leu338= Multiple submitters Cardiovascular phenotype
c.1024-11dup Single submitter myofibrillar myopathy 1
c.1244+123del Single submitter
c.1244+192C>T Single submitter
c.1244+264G>A Single submitter
c.1245-17del Single submitter myofibrillar myopathy 1
c.1245-201A>G Single submitter
c.1245-245T>C Single submitter
c.1245-306G>T Single submitter
c.1289-264C>T Single submitter
c.-17_-16insGCGCCCGCCAGCC Single submitter
c.*40del Single submitter
p.Ser31= Single submitter

Benign/Likely benign 19

c.640-16G>A Multiple submitters dilated cardiomyopathy 1I
c.736-19G>A Multiple submitters myofibrillar myopathy 1
c.736-35C>A Multiple submitters
c.897+16C>T Multiple submitters myofibrillar myopathy 1
c.897+4_897+5del Multiple submitters Cardiovascular phenotype
c.*468G>T Multiple submitters myofibrillar myopathy 1
c.*662G>A Multiple submitters myofibrillar myopathy 1
p.Asn141= Multiple submitters myofibrillar myopathy 1
p.Asn233= Multiple submitters Cardiovascular phenotype
p.Asn342= Multiple submitters Cardiovascular phenotype
p.Asp264= Multiple submitters Cardiovascular phenotype
p.Glu108= Multiple submitters Cardiovascular phenotype
p.Glu124= Multiple submitters Cardiovascular phenotype
p.Ile223= Multiple submitters Cardiovascular phenotype
p.Pro33= Multiple submitters Cardiovascular phenotype
p.Ser81= Multiple submitters myofibrillar myopathy 1
p.Val459Ile Multiple submitters Cardiovascular phenotype ⚠
c.*475T>G Single submitter myofibrillar myopathy 1
c.735+14C>T No assertion criteria

Likely benign 313

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

c.1023+14C>T Multiple submitters myofibrillar myopathy 1
c.1023+15A>G Multiple submitters myofibrillar myopathy 1
c.1024-11C>T Multiple submitters myofibrillar myopathy 1
c.1024-7C>G Multiple submitters myofibrillar myopathy 1
c.1024-9C>T Multiple submitters myofibrillar myopathy 1
c.1244+17G>C Multiple submitters myofibrillar myopathy 1
c.1288+20C>T Multiple submitters myofibrillar myopathy 1
c.1372-53G>A Multiple submitters
c.578+10C>T Multiple submitters myofibrillar myopathy 1
c.639+13_639+15del Multiple submitters myofibrillar myopathy 1
c.640-17C>T Multiple submitters myofibrillar myopathy 1
c.640-4C>G Multiple submitters myofibrillar myopathy 1
c.897+13G>A Multiple submitters myofibrillar myopathy 1
p.Ala120= Multiple submitters myofibrillar myopathy 1
p.Ala138= Multiple submitters Cardiovascular phenotype
p.Ala152= Multiple submitters myofibrillar myopathy 1
p.Ala272= Multiple submitters cardiomyopathy
p.Ala279= Multiple submitters Cardiovascular phenotype
p.Ala285= Multiple submitters Cardiovascular phenotype
p.Ala397= Multiple submitters Cardiovascular phenotype
p.Ala403= Multiple submitters Cardiovascular phenotype
p.Arg10= Multiple submitters Cardiovascular phenotype
p.Arg146= Multiple submitters Cardiovascular phenotype
p.Arg15= Multiple submitters Cardiovascular phenotype
p.Arg163= Multiple submitters Cardiovascular phenotype
p.Arg180= Multiple submitters myofibrillar myopathy 1
p.Arg325= Multiple submitters myofibrillar myopathy 1
p.Asn116= Multiple submitters Cardiovascular phenotype
p.Asn207= Multiple submitters myofibrillar myopathy 1
p.Asn311= Multiple submitters Cardiovascular phenotype
p.Asn393= Multiple submitters myofibrillar myopathy 1
p.Asn427= Multiple submitters Cardiovascular phenotype
p.Asp181= Multiple submitters myofibrillar myopathy 1
p.Asp312= Multiple submitters myofibrillar myopathy 1
p.Asp336= Multiple submitters Cardiovascular phenotype
p.Asp95= Multiple submitters Cardiovascular phenotype
p.Gln113= Multiple submitters Cardiovascular phenotype
p.Gln3= Multiple submitters myofibrillar myopathy 1
p.Glu226= Multiple submitters myofibrillar myopathy 1
p.Glu230= Multiple submitters myofibrillar myopathy 1
p.Glu235= Multiple submitters myofibrillar myopathy 1
p.Glu334= Multiple submitters Cardiovascular phenotype
p.Glu372= Multiple submitters Cardiovascular phenotype
p.Glu412= Multiple submitters Cardiovascular phenotype
p.Gly20= Multiple submitters myofibrillar myopathy 1
p.Gly75= Multiple submitters myofibrillar myopathy 1
p.Gly86= Multiple submitters Cardiovascular phenotype
p.His243= Multiple submitters myofibrillar myopathy 1
p.Ile198= Multiple submitters myofibrillar myopathy 1
p.Ile420= Multiple submitters myofibrillar myopathy 1
p.Leu102= Multiple submitters myofibrillar myopathy 1
p.Leu154= Multiple submitters Cardiovascular phenotype
p.Leu187= Multiple submitters Cardiovascular phenotype
p.Leu200= Multiple submitters myofibrillar myopathy 1
p.Leu208= Multiple submitters Cardiovascular phenotype
p.Leu225= Multiple submitters Cardiovascular phenotype
p.Leu26= Multiple submitters myofibrillar myopathy 1
p.Leu408= Multiple submitters myofibrillar myopathy 1
p.Leu409= Multiple submitters Cardiovascular phenotype
p.Leu69= Multiple submitters myofibrillar myopathy 1
p.Lys297= Multiple submitters Cardiovascular phenotype
p.Phe119= Multiple submitters myofibrillar myopathy 1
p.Phe18= Multiple submitters myofibrillar myopathy 1
p.Phe238= Multiple submitters Cardiovascular phenotype
p.Pro148= Multiple submitters Cardiovascular phenotype
p.Pro22= Multiple submitters myofibrillar myopathy 1
p.Ser298= Multiple submitters myofibrillar myopathy 1
p.Ser424= Multiple submitters Cardiovascular phenotype
p.Ser48= Multiple submitters myofibrillar myopathy 1
p.Ser68= Multiple submitters myofibrillar myopathy 1
p.Thr304= Multiple submitters Cardiovascular phenotype
p.Thr445= Multiple submitters Cardiovascular phenotype
p.Thr59= Multiple submitters Cardiovascular phenotype
p.Thr76= Multiple submitters Cardiovascular phenotype
p.Tyr423= Multiple submitters cardiomyopathy
p.Tyr83= Multiple submitters Cardiovascular phenotype
p.Val458= Multiple submitters myofibrillar myopathy 1
p.Val97= Multiple submitters Cardiovascular phenotype
c.1023+10T>C Single submitter myofibrillar myopathy 1
c.1023+11G>A Single submitter myofibrillar myopathy 1
c.1023+8C>A Single submitter myofibrillar myopathy 1
c.1024-10del Single submitter myofibrillar myopathy 1
c.1024-10T>C Single submitter myofibrillar myopathy 1
c.1024-11C>A Single submitter myofibrillar myopathy 1
c.1024-13C>G Single submitter myofibrillar myopathy 1
c.1024-14C>T Single submitter myofibrillar myopathy 1
c.1024-17T>A Single submitter myofibrillar myopathy 1
c.1024-17T>C Single submitter myofibrillar myopathy 1
c.1024-17T>G Single submitter myofibrillar myopathy 1
c.1024-18G>T Single submitter myofibrillar myopathy 1
c.1024-6C>G Single submitter myofibrillar myopathy 1
c.1024-7C>T Single submitter myofibrillar myopathy 1
c.1244+123dup Single submitter
c.1244+12G>T Single submitter myofibrillar myopathy 1
c.1244+13G>A Single submitter myofibrillar myopathy 1
c.1244+17G>A Single submitter myofibrillar myopathy 1
c.1244+17G>T Single submitter myofibrillar myopathy 1
c.1244+18A>C Single submitter myofibrillar myopathy 1
c.1244+20C>T Single submitter myofibrillar myopathy 1
c.1244+8G>A Single submitter myofibrillar myopathy 1
c.1245-11T>C Single submitter myofibrillar myopathy 1
c.1245-14C>T Single submitter myofibrillar myopathy 1
c.1245-214C>G Single submitter
c.1245-6T>C Single submitter myofibrillar myopathy 1
c.1245-7C>G Single submitter myofibrillar myopathy 1
c.1288+11G>A Single submitter myofibrillar myopathy 1
c.1288+13T>G Single submitter myofibrillar myopathy 1
c.1288+14G>A Single submitter myofibrillar myopathy 1
c.1288+79G>A Single submitter
c.1289-10C>T Single submitter myofibrillar myopathy 1
c.1289-11C>A Single submitter myofibrillar myopathy 1
c.1289-11C>T Single submitter myofibrillar myopathy 1
c.1289-12A>G Single submitter myofibrillar myopathy 1
c.1289-14G>T Single submitter myofibrillar myopathy 1
c.1289-15T>C Single submitter myofibrillar myopathy 1
c.1289-17G>A Single submitter myofibrillar myopathy 1
c.1289-18C>T Single submitter myofibrillar myopathy 1
c.1289-19G>A Single submitter myofibrillar myopathy 1
c.1289-19G>T Single submitter myofibrillar myopathy 1
c.1289-287G>A Single submitter
c.1289-9C>T Single submitter myofibrillar myopathy 1
c.1371+12G>C Single submitter myofibrillar myopathy 1
c.1371+13T>G Single submitter myofibrillar myopathy 1
c.1372-14C>T Single submitter myofibrillar myopathy 1
c.1372-15T>A Single submitter myofibrillar myopathy 1
c.1372-5C>T Single submitter myofibrillar myopathy 1
c.1372-7T>C Single submitter myofibrillar myopathy 1
c.578+10C>A Single submitter myofibrillar myopathy 1
c.578+15C>T Single submitter myofibrillar myopathy 1
c.578+19A>G Single submitter myofibrillar myopathy 1
c.578+8C>T Single submitter myofibrillar myopathy 1
c.579-15G>C Single submitter myofibrillar myopathy 1
c.579-5C>A Single submitter myofibrillar myopathy 1
c.639+10C>T Single submitter myofibrillar myopathy 1
c.639+16T>C Single submitter myofibrillar myopathy 1
c.639+17T>G Single submitter myofibrillar myopathy 1
c.639+18C>T Single submitter myofibrillar myopathy 1
c.639+20C>A Single submitter myofibrillar myopathy 1
c.640-10C>T Single submitter myofibrillar myopathy 1
c.640-14T>C Single submitter myofibrillar myopathy 1
c.640-15C>A Single submitter myofibrillar myopathy 1
c.640-19C>G Single submitter myofibrillar myopathy 1
c.640-8T>C Single submitter myofibrillar myopathy 1
c.640-9C>T Single submitter myofibrillar myopathy 1
c.735+10G>A Single submitter myofibrillar myopathy 1
c.735+10G>T Single submitter myofibrillar myopathy 1
c.735+15C>T Single submitter myofibrillar myopathy 1
c.735+8T>C Single submitter myofibrillar myopathy 1
c.735+9T>C Single submitter myofibrillar myopathy 1
c.736-10T>C Single submitter myofibrillar myopathy 1
c.736-12C>G Single submitter myofibrillar myopathy 1
c.736-14G>T Single submitter myofibrillar myopathy 1
c.736-8C>T Single submitter myofibrillar myopathy 1
c.736-9G>A Single submitter myofibrillar myopathy 1
c.897+10C>T Single submitter myofibrillar myopathy 1
c.897+11del Single submitter myofibrillar myopathy 1
c.897+12C>T Single submitter myofibrillar myopathy 1
c.897+13G>T Single submitter myofibrillar myopathy 1
c.897+15C>T Single submitter myofibrillar myopathy 1
c.897+16C>A Single submitter myofibrillar myopathy 1
c.897+17G>A Single submitter myofibrillar myopathy 1
c.897+17G>T Single submitter myofibrillar myopathy 1
c.897+19_897+20del Single submitter myofibrillar myopathy 1
c.897+20G>A Single submitter myofibrillar myopathy 1
c.897+32C>T Single submitter
c.897+8G>A Single submitter
c.897+8G>T Single submitter myofibrillar myopathy 1
c.898-13T>C Single submitter myofibrillar myopathy 1
c.898-16C>T Single submitter myofibrillar myopathy 1
c.898-17C>T Single submitter myofibrillar myopathy 1
c.898-18C>T Single submitter myofibrillar myopathy 1
c.898-19C>A Single submitter myofibrillar myopathy 1
c.898-19C>T Single submitter myofibrillar myopathy 1
c.898-20G>T Single submitter myofibrillar myopathy 1
c.898-6C>T Single submitter myofibrillar myopathy 1
c.898-7C>A Single submitter myofibrillar myopathy 1
c.-281C>T Single submitter
c.-31T>A Single submitter
c.-47C>T Single submitter
c.*19A>G Single submitter
c.*9A>G Single submitter
p.Ala134= Single submitter myofibrillar myopathy 1
p.Ala135= Single submitter myofibrillar myopathy 1
p.Ala137= Single submitter myofibrillar myopathy 1
p.Ala174= Single submitter Cardiovascular phenotype
p.Ala217= Single submitter Cardiovascular phenotype
p.Ala237= Single submitter myofibrillar myopathy 1
p.Ala286= Single submitter myofibrillar myopathy 1
p.Ala292= Single submitter myofibrillar myopathy 1
p.Ala313= Single submitter myofibrillar myopathy 1
p.Ala337= Single submitter myofibrillar myopathy 1
p.Ala38= Single submitter myofibrillar myopathy 1
p.Ala382= Single submitter myofibrillar myopathy 1
p.Ala4= Single submitter myofibrillar myopathy 1
p.Ala462= Single submitter myofibrillar myopathy 1
p.Ala71= Single submitter myofibrillar myopathy 1
p.Ala85= Single submitter Cardiovascular phenotype
p.Ala94= Single submitter Cardiovascular phenotype
p.Ala96= Single submitter Cardiovascular phenotype
p.Arg105= Single submitter Cardiovascular phenotype
p.Arg118= Single submitter myofibrillar myopathy 1
p.Arg142= Single submitter Cardiovascular phenotype
p.Arg150= Single submitter Cardiovascular phenotype
p.Arg160= Single submitter Cardiovascular phenotype
p.Arg173= Single submitter myofibrillar myopathy 1
p.Arg175= Single submitter myofibrillar myopathy 1
p.Arg189= Single submitter myofibrillar myopathy 1
p.Arg212= Single submitter myofibrillar myopathy 1
p.Arg227= Single submitter myofibrillar myopathy 1
p.Arg278= Single submitter myofibrillar myopathy 1
p.Arg347= Single submitter myofibrillar myopathy 1
p.Arg37= Single submitter Cardiovascular phenotype
p.Arg375= Single submitter Cardiovascular phenotype
p.Arg406= Single submitter myofibrillar myopathy 1
p.Arg436= Single submitter Cardiovascular phenotype
p.Arg454= Single submitter Cardiovascular phenotype
p.Arg52= Single submitter myofibrillar myopathy 1
p.Arg73= Single submitter myofibrillar myopathy 1
p.Asn133= Single submitter myofibrillar myopathy 1
p.Asn171= Single submitter Cardiovascular phenotype
p.Asn417= Single submitter Cardiovascular phenotype
p.Asn98= Single submitter myofibrillar myopathy 1
p.Asp117= Single submitter Cardiovascular phenotype
p.Asp216= Single submitter myofibrillar myopathy 1
p.Asp269= Single submitter myofibrillar myopathy 1
p.Asp354= Single submitter myofibrillar myopathy 1
p.Asp390= Single submitter myofibrillar myopathy 1
p.Gln280= Single submitter myofibrillar myopathy 1
p.Gln329= Single submitter myofibrillar myopathy 1
p.Gln364= Single submitter myofibrillar myopathy 1
p.Glu139= Single submitter Cardiovascular phenotype
p.Glu197= Single submitter myofibrillar myopathy 1
p.Glu205= Single submitter myofibrillar myopathy 1
p.Glu234= Single submitter myofibrillar myopathy 1
p.Glu353= Single submitter myofibrillar myopathy 1
p.Glu359= Single submitter myofibrillar myopathy 1
p.Glu434= Single submitter Cardiovascular phenotype
p.Glu439= Single submitter myofibrillar myopathy 1
p.Glu452= Single submitter myofibrillar myopathy 1
p.Glu461= Single submitter myofibrillar myopathy 1
p.Glu87= Single submitter myofibrillar myopathy 1
p.Gly145= Single submitter Cardiovascular phenotype
p.Gly39= Single submitter
p.Gly41= Single submitter myofibrillar myopathy 1
p.Gly456= Single submitter myofibrillar myopathy 1
p.Gly62= Single submitter myofibrillar myopathy 1
p.Gly65= Single submitter myofibrillar myopathy 1
p.Gly84= Single submitter myofibrillar myopathy 1
p.His326= Single submitter myofibrillar myopathy 1
p.His376= Single submitter myofibrillar myopathy 1
p.His467= Single submitter Cardiovascular phenotype
p.Ile284= Single submitter myofibrillar myopathy 1
p.Ile367= Single submitter myofibrillar myopathy 1
p.Ile374= Single submitter myofibrillar myopathy 1
p.Leu115= Single submitter myofibrillar myopathy 1
p.Leu136= Single submitter myofibrillar myopathy 1
p.Leu143= Single submitter Cardiovascular phenotype
p.Leu159= Single submitter myofibrillar myopathy 1
p.Leu162= Single submitter myofibrillar myopathy 1
p.Leu184= Single submitter Cardiovascular phenotype
p.Leu190= Single submitter myofibrillar myopathy 1
p.Leu194= Single submitter Cardiovascular phenotype
p.Leu232= Single submitter myofibrillar myopathy 1
p.Leu254= Single submitter myofibrillar myopathy 1
p.Leu30= Single submitter myofibrillar myopathy 1
p.Leu345= Single submitter myofibrillar myopathy 1
p.Leu385= Single submitter myofibrillar myopathy 1
p.Leu392= Single submitter myofibrillar myopathy 1
p.Leu66= Single submitter myofibrillar myopathy 1
p.Leu74= Single submitter Cardiovascular phenotype
p.Leu88= Single submitter myofibrillar myopathy 1
p.Lys144= Single submitter Cardiovascular phenotype
p.Lys240= Single submitter myofibrillar myopathy 1
p.Lys378= Single submitter myofibrillar myopathy 1
p.Lys395= Single submitter myofibrillar myopathy 1
p.Phe101= Single submitter Cardiovascular phenotype
p.Phe40= Single submitter Cardiovascular phenotype
p.Phe91= Single submitter myofibrillar myopathy 1
p.Pro25= Single submitter myofibrillar myopathy 1
p.Pro29= Single submitter myofibrillar myopathy 1
p.Pro80= Single submitter myofibrillar myopathy 1
p.Ser12= Single submitter myofibrillar myopathy 1
p.Ser358= Single submitter myofibrillar myopathy 1
p.Ser42= Single submitter Cardiovascular phenotype
p.Ser42Thr Single submitter Cardiovascular phenotype
p.Ser45= Single submitter myofibrillar myopathy 1
p.Ser46= Single submitter myofibrillar myopathy 1
p.Ser57= Single submitter myofibrillar myopathy 1
p.Ser7= Single submitter myofibrillar myopathy 1
p.Ser82= Single submitter Cardiovascular phenotype
p.Ser92= Single submitter Cardiovascular phenotype
p.Thr103= Single submitter myofibrillar myopathy 1
p.Thr104= Single submitter myofibrillar myopathy 1
p.Thr149= Single submitter Cardiovascular phenotype
p.Thr170= Single submitter Cardiovascular phenotype
p.Thr332= Single submitter myofibrillar myopathy 1
p.Thr422= Single submitter myofibrillar myopathy 1
p.Thr431= Single submitter myofibrillar myopathy 1
p.Thr450= Single submitter myofibrillar myopathy 1
p.Thr453= Single submitter myofibrillar myopathy 1

Uncertain significance 667

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

c.1023+6_1023+24dup Multiple submitters myofibrillar myopathy 1
c.1023+6T>G Multiple submitters myofibrillar myopathy 1
c.1245-3T>G Multiple submitters Cardiovascular phenotype
c.1371+2dup Multiple submitters Cardiovascular phenotype
c.639+4A>G Multiple submitters Cardiovascular phenotype
c.640-3C>T Multiple submitters myofibrillar myopathy 1
c.735+3A>T Multiple submitters Cardiovascular phenotype
c.-6G>A Multiple submitters myofibrillar myopathy 1
c.*695C>T Multiple submitters myofibrillar myopathy 1
p.Ala120Gly Multiple submitters myofibrillar myopathy 1 ⚠
p.Ala135Gly Multiple submitters myofibrillar myopathy 1 ⚠
p.Ala137Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala174Thr Multiple submitters myofibrillar myopathy 1 ⚠
p.Ala192Val Multiple submitters myofibrillar myopathy 1 ⚠
p.Ala204Ser Multiple submitters myofibrillar myopathy 1 ⚠
p.Ala204Thr Multiple submitters myofibrillar myopathy 1 ⚠
p.Ala209Pro Multiple submitters dilated cardiomyopathy 1I ⚠
p.Ala213= Multiple submitters Cardiovascular phenotype
p.Ala213Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala217Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala21Thr Multiple submitters myofibrillar myopathy 1 ⚠
p.Ala221Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala237Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala237Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala237Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala273Pro Multiple submitters myofibrillar myopathy 1 ⚠
p.Ala273Ser Multiple submitters myofibrillar myopathy 1 ⚠
p.Ala273Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala285Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala313Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala337Asp Multiple submitters Cardiovascular phenotype ⚠
p.Ala337Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala360Ser Multiple submitters neurogenic scapuloperoneal syndrome, Kaeser type ⚠
p.Ala360Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala38Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala397Ser Multiple submitters myofibrillar myopathy 1 ⚠
p.Ala397Thr Multiple submitters myofibrillar myopathy 1 ⚠
p.Ala425Pro Multiple submitters myofibrillar myopathy 1 ⚠
p.Ala462Glu Multiple submitters myofibrillar myopathy 1
p.Ala63Asp Multiple submitters myofibrillar myopathy 1 ⚠
p.Ala71Gly Multiple submitters myofibrillar myopathy 1 ⚠
p.Ala71Val Multiple submitters myofibrillar myopathy 1 ⚠
p.Ala94Val Multiple submitters myofibrillar myopathy 1 ⚠
p.Ala96Ser Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg105Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg105Leu Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg10Cys Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg118Cys Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg127Gly Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg142Pro Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg146Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg150Gln Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg15Ser Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg163_Arg164insGluLeuArg Multiple submitters myofibrillar myopathy 1
p.Arg163Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg163Pro Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg173Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg175His Multiple submitters Cardiovascular phenotype ⚠
p.Arg189Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg189Trp Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg222Cys Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg222Gly Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg227His Multiple submitters Cardiovascular phenotype ⚠
p.Arg227Leu Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg228Ile Multiple submitters Cardiovascular phenotype ⚠
p.Arg248Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg248His Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg248Leu Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg275Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg315Cys Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg315His Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg315Leu Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg325Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg350Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg355Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg369Cys Multiple submitters neurogenic scapuloperoneal syndrome, Kaeser type
p.Arg369Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg375Gln Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg375Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg37Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg37Trp Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg383Cys Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg383Ser Multiple submitters DES-related disorder ⚠
p.Arg386Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg386His Multiple submitters Cardiovascular phenotype ⚠
p.Arg386Leu Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg406Gln Multiple submitters DES-related disorder ⚠
p.Arg415Gln Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg415Gly Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg429Gln Multiple submitters dilated cardiomyopathy 1I ⚠
p.Arg436Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg454Gln Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg58Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg70Pro Multiple submitters Cardiovascular phenotype ⚠
p.Arg78Cys Multiple submitters myofibrillar myopathy 1 ⚠
p.Arg78Leu Multiple submitters myofibrillar myopathy 1 ⚠
p.Asn107Thr Multiple submitters Cardiovascular phenotype ⚠
p.Asn116Lys Multiple submitters Cardiovascular phenotype ⚠
p.Asn121His Multiple submitters Cardiovascular phenotype ⚠
p.Asn171Thr Multiple submitters Cardiovascular phenotype ⚠
p.Asn182Thr Multiple submitters myofibrillar myopathy 1 ⚠
p.Asn288Lys Multiple submitters Cardiovascular phenotype ⚠
p.Asn308Lys Multiple submitters Cardiovascular phenotype ⚠
p.Asn311Asp Multiple submitters myofibrillar myopathy 1 ⚠
p.Asn311Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn366Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn393Ser Multiple submitters myofibrillar myopathy 1 ⚠
p.Asn427Ser Multiple submitters myofibrillar myopathy 1 ⚠
p.Asp117His Multiple submitters Cardiovascular phenotype ⚠
p.Asp177Asn Multiple submitters myofibrillar myopathy 1 ⚠
p.Asp181Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp181Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp181His Multiple submitters Cardiovascular phenotype ⚠
p.Asp185Asn Multiple submitters myofibrillar myopathy 1 ⚠
p.Asp185Val Multiple submitters myofibrillar myopathy 1 ⚠
p.Asp186Glu Multiple submitters myofibrillar myopathy 1 ⚠
p.Asp214Tyr Multiple submitters myofibrillar myopathy 1 ⚠
p.Asp302Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp343Asn Multiple submitters myofibrillar myopathy 1 ⚠
p.Asp455Asn Multiple submitters dilated cardiomyopathy 1I ⚠
p.Asp455Val Multiple submitters Cardiovascular phenotype ⚠
p.Asp90His Multiple submitters Cardiovascular phenotype ⚠
p.Cys333Arg Multiple submitters myofibrillar myopathy 1 ⚠
p.Cys333Phe Multiple submitters Cardiovascular phenotype ⚠
p.Gln131Lys Multiple submitters Cardiovascular phenotype ⚠
p.Gln165Arg Multiple submitters neurogenic scapuloperoneal syndrome, Kaeser type ⚠
p.Gln329Pro Multiple submitters myofibrillar myopathy 1 ⚠
p.Gln364Lys Multiple submitters Cardiovascular phenotype ⚠
p.Gln421Arg Multiple submitters myofibrillar myopathy 1 ⚠
p.Gln464Ter Multiple submitters myofibrillar myopathy 1
p.Gln99Glu Multiple submitters myofibrillar myopathy 1 ⚠
p.Glu100Ala Multiple submitters Cardiovascular phenotype ⚠
p.Glu108Gly Multiple submitters myofibrillar myopathy 1 ⚠
p.Glu124Gly Multiple submitters myofibrillar myopathy 1 ⚠
p.Glu139Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu147Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu153Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu156Lys Multiple submitters neurogenic scapuloperoneal syndrome, Kaeser type ⚠
p.Glu158Val Multiple submitters myofibrillar myopathy 1 ⚠
p.Glu161Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu161Lys Multiple submitters myofibrillar myopathy 1 ⚠
p.Glu167Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu167Gln Multiple submitters myofibrillar myopathy 1 ⚠
p.Glu167Gly Multiple submitters myofibrillar myopathy 1 ⚠
p.Glu179_Leu184del Multiple submitters Cardiovascular phenotype
p.Glu179Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu203Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu205Asp Multiple submitters myofibrillar myopathy 1 ⚠
p.Glu234Lys Multiple submitters myofibrillar myopathy 1 ⚠
p.Glu249Ala Multiple submitters Cardiovascular phenotype ⚠
p.Glu256Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu282Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu282Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu334Lys Multiple submitters myofibrillar myopathy 1 ⚠
p.Glu373del Multiple submitters myofibrillar myopathy 1
p.Glu373Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu387del Multiple submitters myofibrillar myopathy 1
p.Glu452Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu468Asp Multiple submitters myofibrillar myopathy 1 ⚠
p.Gly19Arg Multiple submitters myofibrillar myopathy 1 ⚠
p.Gly23Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly27Ser Multiple submitters Cardiovascular phenotype ⚠
p.Gly340Asp Multiple submitters myofibrillar myopathy 1 ⚠
p.Gly39Ser Multiple submitters Cardiovascular phenotype ⚠
p.Gly61Asp Multiple submitters myofibrillar myopathy 1 ⚠
p.Gly62Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly65Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly67Arg Multiple submitters Cardiovascular phenotype ⚠
p.His243Arg Multiple submitters Cardiovascular phenotype ⚠
p.His243Tyr Multiple submitters Cardiovascular phenotype ⚠
p.His441Leu Multiple submitters myofibrillar myopathy 1 ⚠
p.Ile123Met Multiple submitters myofibrillar myopathy 1 ⚠
p.Ile123Ser Multiple submitters myofibrillar myopathy 1 ⚠
p.Ile123Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile198Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile236Val Multiple submitters myofibrillar myopathy 1 ⚠
p.Ile335Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile367Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile367Val Multiple submitters myofibrillar myopathy 1 ⚠
p.Ile420Leu Multiple submitters Cardiovascular phenotype ⚠
p.Leu112Arg Multiple submitters myofibrillar myopathy 1 ⚠
p.Leu136His Multiple submitters Cardiovascular phenotype ⚠
p.Leu136Val Multiple submitters myofibrillar myopathy 1 ⚠
p.Leu154His Multiple submitters myofibrillar myopathy 1 ⚠
p.Leu187Arg Multiple submitters myofibrillar myopathy 1 ⚠
p.Leu187Pro Multiple submitters myofibrillar myopathy 1 ⚠
p.Leu208Ser Multiple submitters myofibrillar myopathy 1 ⚠
p.Leu208Trp Multiple submitters Cardiovascular phenotype ⚠
p.Leu220Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu232Phe Multiple submitters myofibrillar myopathy 1 ⚠
p.Leu254Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu26His Multiple submitters myofibrillar myopathy 1 ⚠
p.Leu385Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu391Pro Multiple submitters myofibrillar myopathy 1 ⚠
p.Leu66Met Multiple submitters myofibrillar myopathy 1 ⚠
p.Leu69Pro Multiple submitters myofibrillar myopathy 1 ⚠
p.Leu88Met Multiple submitters Cardiovascular phenotype ⚠
p.Lys109Arg Multiple submitters myofibrillar myopathy 1 ⚠
p.Lys191Glu Multiple submitters myofibrillar myopathy 1 ⚠
p.Lys201Arg Multiple submitters myofibrillar myopathy 1 ⚠
p.Lys449_Ile451del Multiple submitters Cardiovascular phenotype
p.Met265Thr Multiple submitters myofibrillar myopathy 1 ⚠
p.Met265Val Multiple submitters Cardiovascular phenotype ⚠
p.Met321Lys Multiple submitters Cardiovascular phenotype ⚠
p.Met321Thr Multiple submitters Cardiovascular phenotype ⚠
p.Met321Val Multiple submitters myofibrillar myopathy 1 ⚠
p.Met346Ile Multiple submitters Cardiovascular phenotype ⚠
p.Met346Leu Multiple submitters Cardiovascular phenotype ⚠
p.Met349Ile Multiple submitters myofibrillar myopathy 1 ⚠
p.Phe35Leu Multiple submitters myofibrillar myopathy 1 ⚠
p.Pro148Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro22Arg Multiple submitters Cardiovascular phenotype ⚠
p.Ser13Tyr Multiple submitters myofibrillar myopathy 1 ⚠
p.Ser266Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ser266Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ser290Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Ser31Arg Multiple submitters myofibrillar myopathy 1 ⚠
p.Ser31Cys Multiple submitters myofibrillar myopathy 1 ⚠
p.Ser344Pro Multiple submitters myofibrillar myopathy 1 ⚠
p.Ser47Arg Multiple submitters myofibrillar myopathy 1 ⚠
p.Ser6Trp Multiple submitters Cardiovascular phenotype ⚠
p.Ser82Phe Multiple submitters myofibrillar myopathy 1 ⚠
p.Thr104Arg Multiple submitters myofibrillar myopathy 1 ⚠
p.Thr104Met Multiple submitters Cardiovascular phenotype ⚠
p.Thr332Ile Multiple submitters myofibrillar myopathy 1 ⚠
p.Thr442Asn Multiple submitters myofibrillar myopathy 1 ⚠
p.Thr445Ala Multiple submitters myofibrillar myopathy 1 ⚠
p.Thr450Asn Multiple submitters Cardiovascular phenotype ⚠
p.Thr463Ile Multiple submitters Cardiovascular phenotype ⚠
p.Thr79Pro Multiple submitters myofibrillar myopathy 1 ⚠
p.Tyr14His Multiple submitters Cardiovascular phenotype ⚠
p.Tyr331Asn Multiple submitters myofibrillar myopathy 1 ⚠
p.Val110Leu Multiple submitters Cardiovascular phenotype ⚠
p.Val126Leu Multiple submitters myofibrillar myopathy 1 ⚠
p.Val242Glu Multiple submitters myofibrillar myopathy 1 ⚠
p.Val259Ile Multiple submitters myofibrillar myopathy 1 ⚠
p.Val34Met Multiple submitters myofibrillar myopathy 1 ⚠
p.Val49Ala Multiple submitters myofibrillar myopathy 1 ⚠
p.Val53Ala Multiple submitters Cardiovascular phenotype ⚠
p.Val56Glu Multiple submitters myofibrillar myopathy 1 ⚠
p.Val56Leu Multiple submitters Cardiovascular phenotype ⚠
c.1023+1G>A Single submitter Cardiovascular phenotype
c.1023+5G>A Single submitter myofibrillar myopathy 1
c.1023+5G>C Single submitter myofibrillar myopathy 1
c.1024-4G>A Single submitter Cardiovascular phenotype
c.1024-5T>G Single submitter
c.1245-3T>C Single submitter
c.1289-3C>G Single submitter Cardiovascular phenotype
c.1289-3C>T Single submitter myofibrillar myopathy 1
c.1371+1G>T Single submitter myofibrillar myopathy 1
c.1371+3A>T Single submitter myofibrillar myopathy 1
c.1372-1G>A Single submitter myofibrillar myopathy 1
c.1372-2A>G Single submitter myofibrillar myopathy 1
c.1372-3C>T Single submitter myofibrillar myopathy 1
c.37_578+508del Single submitter megacolon
c.578+3G>T Single submitter Cardiovascular phenotype
c.638_639+5del Single submitter Cardiovascular phenotype
c.639+5G>A Single submitter myofibrillar myopathy 1
c.639+5G>C Single submitter myofibrillar myopathy 1
c.640-2A>G Single submitter myofibrillar myopathy 1
c.735_735+3dup Single submitter myofibrillar myopathy 1
c.735+6C>A Single submitter myofibrillar myopathy 1
c.735+6C>T Single submitter myofibrillar myopathy 1
c.736-2A>T Single submitter myofibrillar myopathy 1
c.736-3C>A Single submitter myofibrillar myopathy 1
c.897+13_897+14delinsCT Single submitter myofibrillar myopathy 1
c.897+4G>A Single submitter myofibrillar myopathy 1
c.897+6T>G Single submitter myofibrillar myopathy 1
c.-54C>T Single submitter myofibrillar myopathy 1
c.-9G>A Single submitter
c.*114G>T Single submitter myofibrillar myopathy 1
c.*280G>A Single submitter myofibrillar myopathy 1
c.*295G>A Single submitter myofibrillar myopathy 1
c.*428G>C Single submitter myofibrillar myopathy 1
c.*489G>A Single submitter myofibrillar myopathy 1
c.*559G>A Single submitter myofibrillar myopathy 1
p.Ala134Glu Single submitter myofibrillar myopathy 1 ⚠
p.Ala134Val Single submitter ⚠
p.Ala137Asp Single submitter myofibrillar myopathy 1 ⚠
p.Ala137Thr Single submitter myofibrillar myopathy 1 ⚠
p.Ala204Gly Single submitter myofibrillar myopathy 1 ⚠
p.Ala210Val Single submitter myofibrillar myopathy 1 ⚠
p.Ala21Asp Single submitter myofibrillar myopathy 1 ⚠
p.Ala21Ser Single submitter myofibrillar myopathy 1 ⚠
p.Ala279Thr Single submitter myofibrillar myopathy 1 ⚠
p.Ala285Gly Single submitter myofibrillar myopathy 1 ⚠
p.Ala286Ser Single submitter myofibrillar myopathy 1 ⚠
p.Ala306Val Single submitter ⚠
p.Ala307Ser Single submitter myofibrillar myopathy 1 ⚠
p.Ala337Ser Single submitter myofibrillar myopathy 1 ⚠
p.Ala368Glu Single submitter Cardiovascular phenotype ⚠
p.Ala368Val Single submitter myofibrillar myopathy 1
p.Ala382Thr Single submitter myofibrillar myopathy 1 ⚠
p.Ala38Val Single submitter Cardiovascular phenotype ⚠
p.Ala403Asp Single submitter myofibrillar myopathy 1 ⚠
p.Ala403Ser Single submitter Cardiovascular phenotype ⚠
p.Ala425= Single submitter
p.Ala425Thr Single submitter Cardiovascular phenotype ⚠
p.Ala462Asp Single submitter Cardiovascular phenotype ⚠
p.Ala4Asp Single submitter myofibrillar myopathy 1 ⚠