EMD — 599 ClinVar variants

All ClinVar germline EMD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 220 flagged for review →

69 Pathogenic · 9 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 51 Conflicting · 12 Benign · 12 Benign/Likely benign · 218 Likely benign · 215 Uncertain significance

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

⚑ Evidence disagreements 220

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 2

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

EMD p.Pro183His Pathogenic Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Pro183Thr Pathogenic No assertion criteria
X-linked Emery-Dreifuss muscular dystrophy

Predictors agree, ClinVar conflicts 21

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

EMD p.Ala129Thr Conflicting Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ala56Thr Conflicting Single submitter
Cardiovascular phenotype
EMD p.Arg118His Conflicting Single submitter
Emery-Dreifuss muscular dystrophy 1, X-linked
EMD p.Arg204Gly Conflicting Single submitter
Cardiovascular phenotype
EMD p.Arg221Leu Conflicting Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asn91Ser Conflicting Single submitter
Cardiovascular phenotype
EMD p.Gln119Lys Conflicting Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Glu249Gly Conflicting Single submitter
Emery-Dreifuss muscular dystrophy 1, X-linked
EMD p.Gly156Arg Conflicting Single submitter
Cardiovascular phenotype
EMD p.Gly216Arg Conflicting Single submitter
Cardiovascular phenotype
EMD p.His132Gln Conflicting Single submitter
Cardiovascular phenotype
EMD p.His135Tyr Conflicting Single submitter
Emery-Dreifuss muscular dystrophy 1, X-linked
EMD p.Leu139Phe Conflicting Single submitter
Cardiovascular phenotype
EMD p.Met154Val Conflicting Single submitter
Cardiovascular phenotype
EMD p.Met191Val Conflicting Single submitter
Emery-Dreifuss muscular dystrophy 1, X-linked
EMD p.Phe240Leu Conflicting Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Pro183Ser Conflicting Single submitter
Cardiovascular phenotype
EMD p.Ser141Phe Conflicting Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Trp226Ser Conflicting Single submitter
Cardiovascular phenotype
EMD p.Val134Met Conflicting Single submitter
Emery-Dreifuss muscular dystrophy 1, X-linked
EMD p.Val238Ile Conflicting Single submitter
Cardiovascular phenotype

Predictors lean, ClinVar uncertain 103

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

EMD p.Ala55Ser Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg207Gln Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg221His Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg31Leu Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asn91Asp Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asp136His Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asp70Tyr Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asp81Asn Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asp81Gly Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Glu107Asp Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Glu35Lys Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy 1, X-linked
EMD p.Gly106Glu Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Gly24Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
EMD p.Gly69Glu Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.His166Arg Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ile164Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
EMD p.Leu239Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
EMD p.Leu7His Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Lys37Met Uncertain significance Multiple submitters
Cardiovascular phenotype
EMD p.Lys88Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
EMD p.Pro224Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
EMD p.Pro25Thr Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Pro50Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
EMD p.Pro77Ser Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser8Trp Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Thr101Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
EMD p.Thr188Pro Uncertain significance Multiple submitters
cardiomyopathy
EMD p.Tyr99His Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ala111Thr Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ala56Val Uncertain significance Single submitter
cardiomyopathy
EMD p.Arg150Lys Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg150Thr Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg17His Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy 1, X-linked
EMD p.Arg211Gly Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg31Pro Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg32Lys Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asn3Lys Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asp126Gly Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asp128Asn Uncertain significance Single submitter
EMD p.Asp128Val Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asp136Asn Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asp137Asn Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asp137Glu Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asp138Gly Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asp178Ala Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asp178Gly Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asp63Gly Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asp6Glu Uncertain significance Single submitter
Cardiovascular phenotype
EMD p.Asp70Asn Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asp70Gly Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asp92Gly Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Gln119Arg Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Gln133His Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Gln219Arg Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Gln222His Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Glu109Gln Uncertain significance Single submitter
Cardiovascular phenotype
EMD p.Glu109Lys Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Glu40Gln Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Gly112Ser Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Gly214Ala Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Gly24Val Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Gly251Asp Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Gly28Arg Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Gly28Glu Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Gly89Asp Uncertain significance Single submitter
EMD p.Ile164Val Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ile206Met Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ile206Val Uncertain significance Single submitter
EMD p.Ile237Met Uncertain significance Single submitter
EMD p.Ile237Val Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Leu12Gln Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Leu48Arg Uncertain significance Single submitter
cardiomyopathy
EMD p.Leu64Phe Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Leu76Phe Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Leu84Val Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Lys148Glu Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Lys79Arg Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Lys79Glu Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Met246Leu Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Met73Thr Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Pro153Ser Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Pro208Arg Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Pro25Arg Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Pro25Leu Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Pro51Arg Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser163Gly Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser175Arg Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser192Pro Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser60Arg Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser8Leu Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Thr14Asn Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Thr184Pro Uncertain significance Single submitter
EMD p.Thr188Ser Uncertain significance Single submitter
Cardiovascular phenotype
EMD p.Thr30Ile Uncertain significance Single submitter
Cardiovascular phenotype
EMD p.Thr43Ser Uncertain significance Single submitter
EMD p.Trp200Leu Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Tyr95Phe Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Val117Gly Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Val223Ile Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Glu151Gly Uncertain significance No assertion criteria
Emery-Dreifuss muscular dystrophy
EMD p.His244Tyr Uncertain significance No assertion criteria
Emery-Dreifuss muscular dystrophy
EMD p.Leu48Ile Uncertain significance No assertion criteria
Emery-Dreifuss muscular dystrophy
EMD p.Pro213Ser Uncertain significance No assertion criteria
Emery-Dreifuss muscular dystrophy

Predictors split 94

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

EMD p.Arg152His Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg168Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
EMD p.Arg203His Uncertain significance Multiple submitters
Cardiovascular phenotype
EMD p.Arg204Cys Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy 1, X-linked
EMD p.Arg207Trp Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg211Cys Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asp72Val Uncertain significance Multiple submitters
Cardiovascular phenotype
EMD p.Asp93Tyr Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Glu11Lys Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Glu145Lys Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Glu146Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
EMD p.Leu7Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
EMD p.Phe235Ser Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Pro22Leu Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser120Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
EMD p.Ser142Phe Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser175Asn Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser185Pro Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser192Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
EMD p.Ser193Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
EMD p.Thr165Met Uncertain significance Multiple submitters
Cardiovascular phenotype
EMD p.Tyr167Cys Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Tyr59Cys Uncertain significance Multiple submitters
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg103Gly Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg115Trp Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg118Cys Uncertain significance Single submitter
cardiomyopathy
EMD p.Arg150Gly Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg152Cys Conflicting Single submitter
Emery-Dreifuss muscular dystrophy 1, X-linked
EMD p.Arg157Gln Conflicting Single submitter
Emery-Dreifuss muscular dystrophy 1, X-linked
EMD p.Arg157Trp Likely benign Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg168His Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg168Leu Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg204His Conflicting Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg207Pro Benign Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg211His Conflicting Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg221Cys Uncertain significance Single submitter
Cardiovascular phenotype
EMD p.Arg32Thr Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg46Gln Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg46Trp Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Arg47Trp Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asn20Asp Uncertain significance Single submitter
EMD p.Asn20Ser Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asp137Gly Uncertain significance Single submitter
Cardiovascular phenotype
EMD p.Asp138Asn Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Asp178Glu Conflicting Single submitter
Cardiovascular phenotype
EMD p.Gln228Arg Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Glu11Gly Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Glu146Gly Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Glu250Lys Likely benign Single submitter
EMD p.Glu42Lys Uncertain significance Single submitter
EMD p.His23Gln Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ile21Thr Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ile242Ser Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Leu225Pro Uncertain significance Single submitter
Emery-Dreifuss muscular dystrophy 1, X-linked
EMD p.Leu33Val Uncertain significance Single submitter
Cardiovascular phenotype
EMD p.Lys37Arg Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Lys79Asn Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Phe254Leu Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Pro183Arg Uncertain significance Single submitter
Cardiovascular phenotype
EMD p.Pro183Leu Conflicting Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Pro224Leu Conflicting Single submitter
Emery-Dreifuss muscular dystrophy 1, X-linked
EMD p.Pro224Ser Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Pro50His Conflicting Single submitter
Cardiovascular phenotype
EMD p.Ser114Pro Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser142Cys Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser143Phe Conflicting Single submitter
cardiomyopathy
EMD p.Ser176Phe Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser185Phe Uncertain significance Single submitter
Cardiovascular phenotype
EMD p.Ser186Phe Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser187Pro Uncertain significance Single submitter
EMD p.Ser194Leu Benign Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser196Cys Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser196Phe Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser198Phe Conflicting Single submitter
Cardiovascular phenotype
EMD p.Ser199Leu Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser29Leu Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser29Pro Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser54Cys Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Ser54Phe Conflicting Single submitter
Emery-Dreifuss muscular dystrophy 1, X-linked
EMD p.Ser58Phe Conflicting Single submitter
Cardiovascular phenotype
EMD p.Thr13Pro Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Thr184Ile Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Thr188Asn Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Thr202Ile Uncertain significance Single submitter
hypertrophic cardiomyopathy
EMD p.Thr43Ile Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Trp200Arg Conflicting Single submitter
Cardiovascular phenotype
EMD p.Tyr181Cys Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Tyr243Ser Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Tyr41Asp Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Tyr85Cys Uncertain significance Single submitter
Cardiovascular phenotype
EMD p.Val121Met Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Val236Met Uncertain significance Single submitter
X-linked Emery-Dreifuss muscular dystrophy
EMD p.Val26Ala Conflicting Single submitter
Emery-Dreifuss muscular dystrophy 1, X-linked
EMD p.Thr101Ile Uncertain significance No assertion criteria
Emery-Dreifuss muscular dystrophy

All EMD variants

Pathogenic 69

c.187+1G>A Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
c.266-2A>G Multiple submitters neuromuscular disease
c.399+1G>T Multiple submitters Emery-Dreifuss muscular dystrophy
c.399+2T>C Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
c.82+1G>T Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Gln119Ter Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Gln162Ter Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Gln44Ter Multiple submitters Emery-Dreifuss muscular dystrophy 1, X-linked
p.Glu144Ter Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Leu140Ter Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Leu84fs Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Met1Ile Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Met1Val Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Phe39fs Multiple submitters Emery-Dreifuss muscular dystrophy 1, X-linked
p.Pro208fs Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Ser171Ter Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Ser52fs Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Tyr41fs Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
c.187+2T>G Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.266-3A>G Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.439_449+3del Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.449+1G>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.83-2A>C Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ala215fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Arg157fs Single submitter
p.Arg203fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Arg207fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Arg211fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Asp138fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Gln133fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Gln133Ter Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Gln219fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Gln86Ter Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Glu35Ter Single submitter
p.Glu80fs Single submitter
p.Leu217fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Lys79fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Lys88Ter Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Met191fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Met1Arg Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Met1Thr Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked
p.Met73fs Single submitter Cardiovascular phenotype
p.Phe190fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Pro169fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Pro183His Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser143_Glu144delinsTer Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked
p.Ser159fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ser194fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ser194Ter Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ser49fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ser60fs Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked
p.Ser62fs Single submitter myopathy
p.Ser8fs Single submitter X-linked myopathy with postural muscle atrophy
p.Trp226fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Tyr105fs Single submitter Cardiovascular phenotype
p.Tyr161Ter Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Tyr182Ter Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Tyr34Ter Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Tyr41Ter Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Tyr4Ter Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Tyr59_Ser60delinsTer Single submitter
p.Tyr94Ter Single submitter
p.Val26_Val27insTer Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Val27fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.55_83del No assertion criteria X-linked Emery-Dreifuss muscular dystrophy
p.Glu42fs No assertion criteria X-linked Emery-Dreifuss muscular dystrophy
p.Ile206fs No assertion criteria X-linked Emery-Dreifuss muscular dystrophy
p.Leu48fs No assertion criteria X-linked Emery-Dreifuss muscular dystrophy
p.Pro183Thr No assertion criteria X-linked Emery-Dreifuss muscular dystrophy ⚠

Pathogenic/Likely pathogenic 9

c.187+1G>T Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
c.450-2A>G Multiple submitters Emery-Dreifuss muscular dystrophy 1, X-linked
c.83-2A>G Multiple submitters neuromuscular disease
p.Arg46fs Multiple submitters Emery-Dreifuss muscular dystrophy
p.Asn20fs Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Gln119_Ser120insTer Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Gln228Ter Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Leu225fs Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Trp200Ter Multiple submitters X-linked Emery-Dreifuss muscular dystrophy

Likely pathogenic 13

c.265+1G>A Multiple submitters Emery-Dreifuss muscular dystrophy 1, X-linked
c.82+1G>A Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
c.265+2T>A Single submitter familial dilated cardiomyopathy
c.450-1G>A Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked
c.46_82+6del Single submitter
p.Asp136fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Asp6fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Cys147Ter Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked
p.Gln222fs Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked
p.Gln247fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Phe235fs Single submitter
p.Ser120Ter Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked
p.Tyr95_Tyr99del Single submitter

Conflicting classifications of pathogenicity 51

c.188-6A>G Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.400-9C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.449+10G>C Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.449+5G>A Single submitter Cardiovascular phenotype
p.Ala129Thr Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ala56= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ala56Thr Single submitter Cardiovascular phenotype ⚠
p.Arg118His Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked ⚠
p.Arg152Cys Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked ⚠
p.Arg157Gln Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked ⚠
p.Arg204Gly Single submitter Cardiovascular phenotype ⚠
p.Arg204His Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg211His Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg221Leu Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asn91Ser Single submitter Cardiovascular phenotype ⚠
p.Asp136= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Asp178Glu Single submitter Cardiovascular phenotype ⚠
p.Asp81= Single submitter Cardiovascular phenotype
p.Gln119Lys Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Glu249Gly Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked ⚠
p.Gly156Arg Single submitter Cardiovascular phenotype ⚠
p.Gly216Arg Single submitter Cardiovascular phenotype ⚠
p.His132Gln Single submitter Cardiovascular phenotype ⚠
p.His135Tyr Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked ⚠
p.Leu139Phe Single submitter Cardiovascular phenotype ⚠
p.Leu48= Single submitter Cardiovascular phenotype
p.Lys37del Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Met154Val Single submitter Cardiovascular phenotype ⚠
p.Met191Val Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked ⚠
p.Phe240Leu Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Pro183= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Pro183Leu Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Pro183Ser Single submitter Cardiovascular phenotype ⚠
p.Pro224Leu Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked ⚠
p.Pro50His Single submitter Cardiovascular phenotype ⚠
p.Ser141= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ser141Phe Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser143Phe Single submitter cardiomyopathy ⚠
p.Ser175= Single submitter Cardiovascular phenotype
p.Ser198Phe Single submitter Cardiovascular phenotype ⚠
p.Ser54Phe Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked ⚠
p.Ser57= Single submitter Cardiovascular phenotype
p.Ser58Phe Single submitter Cardiovascular phenotype ⚠
p.Trp200Arg Single submitter Cardiovascular phenotype ⚠
p.Trp226Ser Single submitter Cardiovascular phenotype ⚠
p.Tyr182_Pro183delinsSer Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Tyr4= Single submitter Cardiovascular phenotype
p.Tyr95= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Val134Met Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked ⚠
p.Val238Ile Single submitter Cardiovascular phenotype ⚠
p.Val26Ala Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked ⚠

Benign 12

c.266-35_266-18dup Multiple submitters Emery-Dreifuss muscular dystrophy
c.83-13C>G Multiple submitters Emery-Dreifuss muscular dystrophy 1, X-linked
c.*59G>C Multiple submitters
c.*60C>T Multiple submitters
p.Tyr155= Multiple submitters Emery-Dreifuss muscular dystrophy 1, X-linked
c.187+20G>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.265+12del Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.266-9dup Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.399+49G>A Single submitter
c.449+11G>C Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Arg207Pro Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser194Leu Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠

Benign/Likely benign 12

c.188-12C>T Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
c.399+18C>T Multiple submitters Emery-Dreifuss muscular dystrophy 1, X-linked
c.400-13CT[2] Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
c.400-14A>G Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
c.400-20G>A Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Asp149His Multiple submitters Cardiovascular phenotype
p.Glu144= Multiple submitters Cardiovascular phenotype
p.Gly156Ser Multiple submitters Cardiovascular phenotype
p.His132= Multiple submitters Cardiovascular phenotype
p.Ile206= Multiple submitters Cardiovascular phenotype
p.Thr165= Multiple submitters Cardiovascular phenotype
p.Tyr59= Multiple submitters Cardiovascular phenotype

Likely benign 218

c.188-13C>T Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
c.188-18C>G Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
c.188-4C>T Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
c.188-52G>A Multiple submitters
c.266-10C>T Multiple submitters cardiomyopathy
c.266-19C>T Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
c.399+10C>T Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
c.400-6C>T Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
c.450-13T>G Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
c.-161CAACGATTCGGCTGTGACGCGA[1] Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Ala111= Multiple submitters Cardiovascular phenotype
p.Arg115= Multiple submitters Cardiovascular phenotype
p.Asp137= Multiple submitters Cardiovascular phenotype
p.Asp92= Multiple submitters Cardiovascular phenotype
p.Gln247= Multiple submitters Cardiovascular phenotype
p.Glu11= Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Gly89= Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.His131= Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.His23= Multiple submitters Cardiovascular phenotype
p.Ile237= Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Leu179= Multiple submitters Cardiovascular phenotype
p.Leu201= Multiple submitters Cardiovascular phenotype
p.Lys148= Multiple submitters Cardiovascular phenotype
p.Lys36= Multiple submitters Cardiovascular phenotype
p.Lys78= Multiple submitters Cardiovascular phenotype
p.Met191Thr Multiple submitters Cardiovascular phenotype
p.Phe130= Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Phe240= Multiple submitters Cardiovascular phenotype
p.Phe39= Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Phe61= Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Pro153= Multiple submitters Cardiovascular phenotype
p.Pro224= Multiple submitters Cardiovascular phenotype
p.Ser110= Multiple submitters Cardiovascular phenotype
p.Ser185= Multiple submitters Cardiovascular phenotype
p.Ser186= Multiple submitters Cardiovascular phenotype
p.Ser195= Multiple submitters Cardiovascular phenotype
p.Ser66= Multiple submitters Cardiovascular phenotype
p.Ser98= Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Thr10= Multiple submitters Cardiovascular phenotype
p.Tyr105= Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Tyr19= Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Val170= Multiple submitters Cardiovascular phenotype
p.Val234= Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Val238= Multiple submitters Cardiovascular phenotype
c.187+11C>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.187+11C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.187+12G>C Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.187+13C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.187+16G>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.187+18G>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.187+7G>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.187+7G>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.188-12C>G Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.188-13_188-11del Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.188-14T>C Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.188-15C>G Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.188-16C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.188-18C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.188-20del Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.188-6A>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.188-7A>G Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.188-8C>G Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.265+10G>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.265+10G>C Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.265+11G>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.265+12G>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.265+14T>C Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.265+15G>C Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.265+17G>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.265+7_265+8insTTTACTCTACCAGAGCA Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.265+8A>G Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.266-10_266-9del Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.266-10C>G Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.266-13C>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.266-13C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.266-19del Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.266-96A>G Single submitter
c.266-9C>G Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.266-9C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.399+16G>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.399+17G>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.399+18C>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.399+19G>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.399+19G>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.399+64T>C Single submitter
c.400-10T>C Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.400-11_400-5dup Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.400-11C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.400-12T>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.400-13C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.400-15_400-12del Single submitter
c.400-15G>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.400-15G>C Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.400-17C>G Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.400-4G>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.449+10G>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.449+11G>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.449+12G>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.449+17C>G Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.449+18C>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.449+19C>G Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.449+20A>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.449+7A>G Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.449+9T>C Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.450-11T>C Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.450-12C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.450-13T>C Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.450-14C>G Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.450-17C>G Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.450-17C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.450-19C>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.450-19C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.450-6C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.450-8T>C Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.82+10G>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.82+12C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.82+13G>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.82+17G>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.82+19G>C Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.82+20A>C Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.82+8G>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.82+9C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.83-10G>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.83-12G>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.83-13C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.83-16C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.83-17G>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.83-18C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.83-7C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.83-9T>C Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.-134A>G Single submitter
c.-24C>T Single submitter
c.*88AGGGGC[1] Single submitter
p.Ala160= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ala172= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ala205= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ala5= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ala82= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Arg103= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Arg152= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Arg157Trp Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg168= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Arg17= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Arg174= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Arg207= Single submitter Cardiovascular phenotype
p.Arg221= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Arg32= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Arg46= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Asn3= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Asp128= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Asp149= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Asp178= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Asp63= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Asp75= Single submitter Cardiovascular phenotype
p.Asp9= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Gln162= Single submitter Cardiovascular phenotype
p.Gln44= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Glu107= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Glu109= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Glu11Asp Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Glu146= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Glu250Lys Single submitter ⚠
p.Glu35= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Glu80= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Gly112= Single submitter Cardiovascular phenotype
p.Gly216= Single submitter
p.Gly227= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Gly24= Single submitter Cardiovascular phenotype
p.Gly69= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ile164= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ile21= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ile38= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Leu16= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Leu177= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Leu217= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Leu230= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Leu233= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Leu239= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Leu83= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Leu84= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Phe241= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Phe245= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Phe254= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Pro113= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Pro125Leu Single submitter Cardiovascular phenotype
p.Pro213= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Pro22= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Pro253= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Pro51= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Pro77= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ser123= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ser163= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ser173= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ser187= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ser192= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ser193= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ser194= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ser197= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ser199= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ser29= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ser49= Single submitter Cardiovascular phenotype
p.Ser54= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ser60= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Thr101= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Thr102= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Thr104Asn Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Thr13= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Thr43= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Tyr181= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Tyr34= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Tyr85= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Tyr90= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Tyr99= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Val117= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Val134= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Val223= Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.-117G>A No assertion criteria EMD-related disorder
p.Ala71Val No assertion criteria

Uncertain significance 215

c.400-3C>T Multiple submitters Cardiovascular phenotype
c.449+3G>A Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
c.449+4C>T Multiple submitters Cardiovascular phenotype
c.82+3A>G Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
c.82+4C>A Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Ala55Ser Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg152His Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg168Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg203His Multiple submitters Cardiovascular phenotype ⚠
p.Arg204Cys Multiple submitters Emery-Dreifuss muscular dystrophy 1, X-linked ⚠
p.Arg207Gln Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg207Trp Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg211Cys Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg221His Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg31Leu Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asn91Asp Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asp136His Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asp70Tyr Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asp72Val Multiple submitters Cardiovascular phenotype ⚠
p.Asp81Asn Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asp81Gly Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asp93Tyr Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Glu107Asp Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Glu11Lys Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Glu145Lys Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Glu146Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu35Lys Multiple submitters Emery-Dreifuss muscular dystrophy 1, X-linked ⚠
p.Gly106Glu Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Gly24Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly69Glu Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.His166Arg Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ile164Leu Multiple submitters Cardiovascular phenotype ⚠
p.Leu239Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu7His Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Leu7Phe Multiple submitters Cardiovascular phenotype ⚠
p.Lys37Ile Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Lys37Met Multiple submitters Cardiovascular phenotype ⚠
p.Lys88Asn Multiple submitters Cardiovascular phenotype ⚠
p.Phe235Ser Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Phe39del Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Pro224Arg Multiple submitters Cardiovascular phenotype ⚠
p.Pro22Leu Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Pro25Thr Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Pro50Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro77Ser Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser120Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ser142Phe Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser143del Multiple submitters Cardiovascular phenotype
p.Ser175Asn Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser185Pro Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser192Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ser193Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ser199del Multiple submitters X-linked Emery-Dreifuss muscular dystrophy
p.Ser8Trp Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Thr101Ser Multiple submitters Cardiovascular phenotype ⚠
p.Thr165Met Multiple submitters Cardiovascular phenotype ⚠
p.Thr188Pro Multiple submitters cardiomyopathy ⚠
p.Tyr167Cys Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Tyr59Cys Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Tyr99His Multiple submitters X-linked Emery-Dreifuss muscular dystrophy ⚠
c.187+4A>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.187+5G>C Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.449+3G>C Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.449+4C>G Single submitter
c.82+4C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.82+6C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.83-3C>T Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.83-4C>T Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked
c.83-6G>A Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.-248_*326dup1339 Single submitter X-linked Emery-Dreifuss muscular dystrophy
c.-7A>C Single submitter
c.*2G>A Single submitter
p.Ala111Thr Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ala56Val Single submitter cardiomyopathy ⚠
p.Arg103Gly Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg115Trp Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg118Cys Single submitter cardiomyopathy ⚠
p.Arg150Gly Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg150Lys Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg150Thr Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg168His Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg168Leu Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg17His Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked ⚠
p.Arg18= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Arg211Gly Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg221Cys Single submitter Cardiovascular phenotype ⚠
p.Arg31Pro Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg32Lys Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg32Thr Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg46Gln Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg46Trp Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Arg47Trp Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asn20Asp Single submitter ⚠
p.Asn20Ser Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asn3Lys Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asp126Gly Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asp128Asn Single submitter ⚠
p.Asp128Val Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asp136Asn Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asp137_Asp138del Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Asp137Asn Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asp137Glu Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asp137Gly Single submitter Cardiovascular phenotype ⚠
p.Asp138Asn Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asp138Gly Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asp178Ala Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asp178Gly Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asp63Gly Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asp6Glu Single submitter Cardiovascular phenotype ⚠
p.Asp70Asn Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asp70Gly Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asp92Gly Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Asp93del Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked
p.Cys147= Single submitter
p.Gln119Arg Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Gln133His Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Gln219Arg Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Gln222His Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Gln228Arg Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Glu109Gln Single submitter Cardiovascular phenotype ⚠
p.Glu109Lys Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Glu11Gly Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Glu146Gly Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Glu40Gln Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Glu42Lys Single submitter ⚠
p.Gly112Ser Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Gly214Ala Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Gly227fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Gly24Val Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Gly251= Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Gly251Asp Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Gly28Arg Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Gly28Glu Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Gly89Asp Single submitter ⚠
p.His23Gln Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.His23Pro Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ile164Val Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ile206Met Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ile206Val Single submitter ⚠
p.Ile21Thr Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ile237Met Single submitter ⚠
p.Ile237Val Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ile242Ser Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Leu12Gln Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Leu225Pro Single submitter Emery-Dreifuss muscular dystrophy 1, X-linked ⚠
p.Leu231del Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Leu33Val Single submitter Cardiovascular phenotype ⚠
p.Leu48Arg Single submitter cardiomyopathy ⚠
p.Leu64Phe Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Leu76Phe Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Leu84Val Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Lys148Glu Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Lys37Arg Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Lys79Arg Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Lys79Asn Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Lys79Glu Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Met246Leu Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Met73Thr Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Phe240fs Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Phe241del Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Phe254Leu Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Pro153Ser Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Pro183Arg Single submitter Cardiovascular phenotype ⚠
p.Pro208Arg Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Pro224Ser Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Pro25Arg Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Pro25Leu Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Pro51Arg Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser114Pro Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser142Cys Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser163Gly Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser171= Single submitter Cardiovascular phenotype
p.Ser175Arg Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser176Phe Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser185Phe Single submitter Cardiovascular phenotype ⚠
p.Ser186Phe Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser187Pro Single submitter ⚠
p.Ser192Pro Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser196Cys Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser196Phe Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser199Leu Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser29Leu Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser29Pro Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser54Cys Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser58del Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Ser60Arg Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Ser8Leu Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Thr13Pro Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Thr14Asn Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Thr184del Single submitter X-linked Emery-Dreifuss muscular dystrophy
p.Thr184Ile Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Thr184Pro Single submitter ⚠
p.Thr188Asn Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Thr188Ser Single submitter Cardiovascular phenotype ⚠
p.Thr202Ile Single submitter hypertrophic cardiomyopathy ⚠
p.Thr30Ile Single submitter Cardiovascular phenotype ⚠
p.Thr43Ile Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Thr43Ser Single submitter ⚠
p.Trp200Leu Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Tyr181Cys Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Tyr243Ser Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Tyr41Asp Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Tyr85Cys Single submitter Cardiovascular phenotype ⚠
p.Tyr95Phe Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Val117Gly Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Val121Met Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Val223Ile Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
p.Val236Met Single submitter X-linked Emery-Dreifuss muscular dystrophy ⚠
c.188-3C>T No assertion criteria Emery-Dreifuss muscular dystrophy
c.-3G>T No assertion criteria Emery-Dreifuss muscular dystrophy
p.Glu151Gly No assertion criteria Emery-Dreifuss muscular dystrophy ⚠
p.His244Tyr No assertion criteria Emery-Dreifuss muscular dystrophy ⚠
p.Leu48Ile No assertion criteria Emery-Dreifuss muscular dystrophy ⚠
p.Pro213Ser No assertion criteria Emery-Dreifuss muscular dystrophy ⚠
p.Thr101Ile No assertion criteria Emery-Dreifuss muscular dystrophy ⚠