MTM1 — 819 ClinVar variants

All ClinVar germline MTM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 192 flagged for review →

158 Pathogenic · 18 Pathogenic/Likely pathogenic · 81 Likely pathogenic · 33 Conflicting · 59 Benign · 13 Benign/Likely benign · 265 Likely benign · 192 Uncertain significance

Full MTM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 192

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

Predictors agree, ClinVar conflicts 23

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

MTM1 p.Ala141Val Conflicting Single submitter
Inborn genetic diseases
MTM1 p.Ala577Thr Conflicting Single submitter
Inborn genetic diseases
MTM1 p.Arg29Gln Conflicting Single submitter
Inborn genetic diseases
MTM1 p.Arg37Gln Conflicting Single submitter
Inborn genetic diseases
MTM1 p.Asp210Gly Conflicting Single submitter
X-linked myotubular myopathy
MTM1 p.Glu234Gln Conflicting Single submitter
Inborn genetic diseases
MTM1 p.Gly248Ser Conflicting Single submitter
X-linked myotubular myopathy
MTM1 p.His469Arg Conflicting Single submitter
X-linked myotubular myopathy
MTM1 p.His598Arg Conflicting Single submitter
Inborn genetic diseases
MTM1 p.Ile412Val Conflicting Single submitter
X-linked myotubular myopathy
MTM1 p.Leu178Ser Conflicting Single submitter
X-linked myotubular myopathy
MTM1 p.Leu213Phe Conflicting Single submitter
X-linked myotubular myopathy
MTM1 p.Lys351Arg Conflicting Single submitter
Inborn genetic diseases
MTM1 p.Lys490Arg Conflicting Single submitter
Inborn genetic diseases
MTM1 p.Met249Val Conflicting Single submitter
Inborn genetic diseases
MTM1 p.Phe456Ser Conflicting Single submitter
X-linked myotubular myopathy
MTM1 p.Ser13Phe Conflicting Single submitter
X-linked myotubular myopathy
MTM1 p.Thr197Ile Conflicting Single submitter
X-linked myotubular myopathy
MTM1 p.Thr6Ala Conflicting Single submitter
X-linked myotubular myopathy
MTM1 p.Thr77Met Conflicting Single submitter
X-linked myotubular myopathy
MTM1 p.Trp499Arg Conflicting Single submitter
X-linked myotubular myopathy
MTM1 p.Val170Leu Conflicting Single submitter
X-linked myotubular myopathy
MTM1 p.Val49Ile Conflicting Single submitter
X-linked myotubular myopathy

Predictors lean, ClinVar uncertain 124

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

MTM1 p.Ala304Val Uncertain significance Multiple submitters
X-linked myotubular myopathy
MTM1 p.Arg21Lys Uncertain significance Multiple submitters
X-linked myotubular myopathy
MTM1 p.Arg24Gln Uncertain significance Multiple submitters
Inborn genetic diseases
MTM1 p.Arg318Gln Uncertain significance Multiple submitters
X-linked myotubular myopathy
MTM1 p.Arg488Ser Uncertain significance Multiple submitters
X-linked myotubular myopathy
MTM1 p.Asn511Lys Uncertain significance Multiple submitters
autosomal dominant centronuclear myopathy
MTM1 p.Asp433Asn Uncertain significance Multiple submitters
MTM1 p.Gln447Arg Uncertain significance Multiple submitters
X-linked myotubular myopathy
MTM1 p.Gln575Arg Uncertain significance Multiple submitters
Inborn genetic diseases
MTM1 p.Glu457Lys Uncertain significance Multiple submitters
X-linked myotubular myopathy
MTM1 p.His416Gln Uncertain significance Multiple submitters
X-linked myotubular myopathy
MTM1 p.Ile350Thr Uncertain significance Multiple submitters
Inborn genetic diseases
MTM1 p.Ile412Leu Uncertain significance Multiple submitters
Inborn genetic diseases
MTM1 p.Ile59Val Uncertain significance Multiple submitters
X-linked myotubular myopathy
MTM1 p.Leu137Pro Uncertain significance Multiple submitters
X-linked myotubular myopathy
MTM1 p.Leu274Arg Uncertain significance Multiple submitters
X-linked myotubular myopathy
MTM1 p.Leu463Phe Uncertain significance Multiple submitters
X-linked myotubular myopathy
MTM1 p.Pro585Ala Uncertain significance Multiple submitters
Inborn genetic diseases
MTM1 p.Ser369Arg Uncertain significance Multiple submitters
X-linked myotubular myopathy
MTM1 p.Thr492Ile Uncertain significance Multiple submitters
X-linked myotubular myopathy
MTM1 p.Val161Met Uncertain significance Multiple submitters
X-linked myotubular myopathy
MTM1 p.Ala141Pro Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Ala300Thr Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Ala304Thr Uncertain significance Single submitter
Inborn genetic diseases
MTM1 p.Ala357Pro Uncertain significance Single submitter
MTM1 p.Ala577Ser Uncertain significance Single submitter
MTM1 p.Ala99Thr Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Arg214Gln Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Arg224Gly Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Arg241His Uncertain significance Single submitter
MTM1 p.Arg24Pro Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Arg318Trp Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Arg434Cys Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Arg529His Uncertain significance Single submitter
Inborn genetic diseases
MTM1 p.Arg570Gln Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Arg570Trp Uncertain significance Single submitter
Inborn genetic diseases
MTM1 p.Arg69His Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Asn155Tyr Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Asn168Ser Uncertain significance Single submitter
MTM1 p.Asn223Asp Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Asn313Ser Uncertain significance Single submitter
MTM1 p.Asn578Thr Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Asp257Gly Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Asp25Gly Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Asp262Ala Uncertain significance Single submitter
MTM1 p.Asp394Gly Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Asp565Asn Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Asp78His Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Cys195Phe Uncertain significance Single submitter
MTM1 p.Cys482Arg Uncertain significance Single submitter
MTM1 p.Gln176Lys Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Gln270Arg Uncertain significance Single submitter
MTM1 p.Gln359Glu Uncertain significance Single submitter
Inborn genetic diseases
MTM1 p.Gln575Pro Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Glu234Asp Uncertain significance Single submitter
Inborn genetic diseases
MTM1 p.Glu410Gln Uncertain significance Single submitter
MTM1 p.Glu41Gly Uncertain significance Single submitter
MTM1 p.Glu566Gly Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Glu566Lys Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Gly177Val Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.His181Gln Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.His182Tyr Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.His302Arg Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.His312Arg Uncertain significance Single submitter
MTM1 p.His315Arg Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.His469Pro Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Ile185Leu Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Ile188Leu Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Ile311Val Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Ile350Phe Uncertain significance Single submitter
MTM1 p.Ile437Val Uncertain significance Single submitter
Inborn genetic diseases
MTM1 p.Ile52Met Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Ile52Val Uncertain significance Single submitter
Inborn genetic diseases
MTM1 p.Leu213Ile Uncertain significance Single submitter
MTM1 p.Lys158Glu Uncertain significance Single submitter
Inborn genetic diseases
MTM1 p.Lys20Asn Uncertain significance Single submitter
Inborn genetic diseases
MTM1 p.Lys490Asn Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Lys510Arg Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Lys516Glu Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Met133Val Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Met392Leu Uncertain significance Single submitter
MTM1 p.Met558Thr Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Met595Val Uncertain significance Single submitter
Inborn genetic diseases
MTM1 p.Phe187Ser Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Phe475Leu Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Phe509Leu Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Pro179Thr Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Pro245Leu Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Pro330Leu Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Pro543Ser Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Pro550Leu Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Ser101Arg Uncertain significance Single submitter
MTM1 p.Ser11Leu Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Ser147Gly Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Ser365Phe Uncertain significance Single submitter
MTM1-related disorder
MTM1 p.Ser497Tyr Uncertain significance Single submitter
MTM1 p.Ser527Asn Uncertain significance Single submitter
MTM1-related disorder
MTM1 p.Ser583Phe Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Ser590Thr Uncertain significance Single submitter
Inborn genetic diseases
MTM1 p.Ser593Leu Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Thr112Ser Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Thr138Met Uncertain significance Single submitter
MTM1 p.Thr22Met Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Thr267Ser Uncertain significance Single submitter
MTM1 p.Thr477Ala Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Thr495Ile Uncertain significance Single submitter
MTM1 p.Thr587Ala Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Tyr68Asn Uncertain significance Single submitter
Inborn genetic diseases
MTM1 p.Val216Ile Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Val227Leu Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Val316Ala Uncertain significance Single submitter
Inborn genetic diseases
MTM1 p.Val445Ala Uncertain significance Single submitter
MTM1 p.Val496Ala Uncertain significance Single submitter
MTM1 p.Val521Ile Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Val525Phe Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Val63Leu Uncertain significance Single submitter
Inborn genetic diseases
MTM1 p.Asp468Gly Uncertain significance No assertion criteria
X-linked myotubular myopathy
MTM1 p.Cys191Ser Uncertain significance No assertion criteria
X-linked myotubular myopathy
MTM1 p.Leu154Phe Uncertain significance No assertion criteria
X-linked myotubular myopathy
MTM1 p.Leu338Ser Uncertain significance No assertion criteria
X-linked myotubular myopathy
MTM1 p.Lys409Glu Uncertain significance No assertion criteria
X-linked myotubular myopathy
MTM1 p.Met558Val Uncertain significance No assertion criteria
X-linked myotubular myopathy
MTM1 p.Thr100Ala Uncertain significance No assertion criteria
X-linked myotubular myopathy
MTM1 p.Thr382Ile Uncertain significance No assertion criteria
MTM1-related disorder

Predictors split 45

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

MTM1 p.Arg486Gln Uncertain significance Multiple submitters
Inborn genetic diseases
MTM1 p.Arg556His Uncertain significance Multiple submitters
Inborn genetic diseases
MTM1 p.Asp78Val Uncertain significance Multiple submitters
Inborn genetic diseases
MTM1 p.Glu157Gln Uncertain significance Multiple submitters
X-linked myotubular myopathy
MTM1 p.Glu157Lys Likely pathogenic Multiple submitters
X-linked myotubular myopathy
MTM1 p.Glu305Lys Benign Multiple submitters
X-linked myotubular myopathy
MTM1 p.Ser395Asn Uncertain significance Multiple submitters
X-linked myotubular myopathy
MTM1 p.Val316Ile Uncertain significance Multiple submitters
X-linked myotubular myopathy
MTM1 p.Ala279Gly Likely pathogenic Single submitter
MTM1 p.Ala2Val Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Arg120Lys Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Arg214Trp Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Arg222Gln Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Arg474Gly Uncertain significance Single submitter
MTM1 p.Arg556Cys Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Asn459Ser Conflicting Single submitter
Inborn genetic diseases
MTM1 p.Asp210Val Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Asp211Tyr Uncertain significance Single submitter
Inborn genetic diseases
MTM1 p.Asp362His Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Gln575His Uncertain significance Single submitter
MTM1 p.Glu305Gln Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Gly127Asp Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.His469Asn Uncertain significance Single submitter
MTM1 p.His469Asp Conflicting Single submitter
X-linked myotubular myopathy
MTM1 p.Ile59Thr Conflicting Single submitter
X-linked myotubular myopathy
MTM1 p.Ile93Thr Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Leu202Phe Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Leu321Phe Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Leu70Phe Pathogenic Single submitter
X-linked myotubular myopathy
MTM1 p.Lys490Glu Uncertain significance Single submitter
Inborn genetic diseases
MTM1 p.Met390Leu Uncertain significance Single submitter
Inborn genetic diseases
MTM1 p.Phe480Leu Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Pro149Arg Benign Single submitter
X-linked myotubular myopathy
MTM1 p.Ser101Gly Conflicting Single submitter
X-linked myotubular myopathy
MTM1 p.Ser243Gly Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Ser399Asn Benign Single submitter
X-linked myotubular myopathy
MTM1 p.Ser91Leu Conflicting Single submitter
X-linked myotubular myopathy
MTM1 p.Thr454Ile Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Thr601Ile Uncertain significance Single submitter
Inborn genetic diseases
MTM1 p.Val263Gly Conflicting Single submitter
X-linked myotubular myopathy
MTM1 p.Val49Phe Pathogenic Single submitter
X-linked myotubular myopathy
MTM1 p.Val535Glu Uncertain significance Single submitter
X-linked myotubular myopathy
MTM1 p.Asn481Ser Uncertain significance No assertion criteria
X-linked myotubular myopathy
MTM1 p.Met392Val Uncertain significance No assertion criteria
X-linked myotubular myopathy
MTM1 p.Phe159Leu Uncertain significance No assertion criteria
X-linked myotubular myopathy

All MTM1 variants

Pathogenic 158

c.141_144del Expert panel centronuclear myopathy
c.1644+1G>A Expert panel X-linked myotubular myopathy
p.Arg224Ter Expert panel centronuclear myopathy
p.Arg69Cys Expert panel centronuclear myopathy
p.Glu404Lys Expert panel centronuclear myopathy
p.Pro205Leu Expert panel centronuclear myopathy
c.1349_1353+4del Multiple submitters X-linked myotubular myopathy
c.136+1G>C Multiple submitters X-linked myotubular myopathy
c.1467+1G>A Multiple submitters X-linked myotubular myopathy
c.1467+1G>T Multiple submitters X-linked myotubular myopathy
c.342_342+4del Multiple submitters X-linked myotubular myopathy
c.528+1G>A Multiple submitters X-linked myotubular myopathy
c.64-2A>G Multiple submitters X-linked myotubular myopathy
c.867+1G>A Multiple submitters X-linked myotubular myopathy
p.Arg184fs Multiple submitters X-linked myotubular myopathy
p.Arg222Ter Multiple submitters X-linked myotubular myopathy
p.Arg241Cys Multiple submitters X-linked myotubular myopathy
p.Arg24Ter Multiple submitters X-linked myotubular myopathy
p.Arg253Ter Multiple submitters X-linked myotubular myopathy
p.Arg37Ter Multiple submitters X-linked myotubular myopathy
p.Arg421Ter Multiple submitters neurodevelopmental disorder
p.Arg474Ter Multiple submitters X-linked myotubular myopathy
p.Arg486Ter Multiple submitters X-linked myotubular myopathy
p.Arg520Ter Multiple submitters X-linked myotubular myopathy
p.Gln461Ter Multiple submitters X-linked myotubular myopathy
p.Glu17Ter Multiple submitters X-linked myotubular myopathy
p.Glu483Ter Multiple submitters X-linked myotubular myopathy
p.Gly177fs Multiple submitters X-linked myotubular myopathy
p.Leu144fs Multiple submitters X-linked myotubular myopathy
p.Leu347Ter Multiple submitters X-linked myotubular myopathy
p.Lys323_Val324insTer Multiple submitters X-linked myotubular myopathy
p.Lys363fs Multiple submitters X-linked myotubular myopathy
p.Met317fs Multiple submitters X-linked myotubular myopathy
p.Pro436del Multiple submitters X-linked myotubular myopathy
p.Ser272fs Multiple submitters
p.Trp446Ter Multiple submitters X-linked myotubular myopathy
p.Tyr198fs Multiple submitters X-linked myotubular myopathy
p.Tyr198Ter Multiple submitters
p.Val324fs Multiple submitters X-linked myotubular myopathy
c.1053+1G>C Single submitter X-linked myotubular myopathy
c.1260+15C>G Single submitter X-linked myotubular myopathy
c.1261-1G>C Single submitter X-linked myotubular myopathy
c.1353+1G>A Single submitter X-linked myotubular myopathy
c.1353+2T>C Single submitter X-linked myotubular myopathy
c.1354-1G>A Single submitter X-linked myotubular myopathy
c.136+1G>T Single submitter X-linked myotubular myopathy
c.137-11T>A Single submitter
c.1467+2T>A Single submitter X-linked myotubular myopathy
c.1644+1G>T Single submitter
c.1644+3_1644+6del Single submitter
c.231+1G>T Single submitter X-linked myotubular myopathy
c.231+2T>G Single submitter X-linked myotubular myopathy
c.232-1G>A Single submitter X-linked myotubular myopathy
c.232-1G>C Single submitter X-linked myotubular myopathy
c.232-2A>C Single submitter X-linked myotubular myopathy
c.232-3C>A Single submitter X-linked myotubular myopathy
c.342+1G>A Single submitter X-linked myotubular myopathy
c.343-2A>G Single submitter X-linked myotubular myopathy
c.444+1G>A Single submitter
c.528+1G>T Single submitter X-linked myotubular myopathy
c.529-2A>G Single submitter X-linked myotubular myopathy
c.63+1G>A Single submitter X-linked myotubular myopathy
c.63+1G>T Single submitter X-linked myotubular myopathy
c.64-1G>A Single submitter X-linked myotubular myopathy
c.678+1G>A Single submitter X-linked myotubular myopathy
c.867_867+1dup Single submitter X-linked myotubular myopathy
c.867+2T>A Single submitter X-linked myotubular myopathy
p.Arg184Gly Single submitter X-linked myotubular myopathy
p.Arg29Ter Single submitter X-linked myotubular myopathy
p.Arg69Gly Single submitter X-linked myotubular myopathy
p.Asn155fs Single submitter X-linked myotubular myopathy
p.Asn168fs Single submitter
p.Asn180fs Single submitter X-linked myotubular myopathy
p.Asn189del Single submitter
p.Asn268fs Single submitter X-linked myotubular myopathy
p.Asn428fs Single submitter X-linked myotubular myopathy
p.Asn459Ile Single submitter X-linked myotubular myopathy
p.Asp210fs Single submitter X-linked myotubular myopathy
p.Asp380Val Single submitter X-linked myotubular myopathy
p.Asp84fs Single submitter X-linked myotubular myopathy
p.Cys113Ter Single submitter X-linked myotubular myopathy
p.Gln244Ter Single submitter X-linked myotubular myopathy
p.Gln270fs Single submitter X-linked myotubular myopathy
p.Glu104Ter Single submitter X-linked myotubular myopathy
p.Glu135Ter Single submitter
p.Glu157fs Single submitter X-linked myotubular myopathy
p.Glu172fs Single submitter X-linked myotubular myopathy
p.Glu172Ter Single submitter X-linked myotubular myopathy
p.Glu296_Ser297insTer Single submitter X-linked myotubular myopathy
p.Glu305fs Single submitter X-linked myotubular myopathy
p.Glu33Ter Single submitter X-linked myotubular myopathy
p.Glu410Ter Single submitter
p.Glu457fs Single submitter X-linked myotubular myopathy
p.Glu460Ter Single submitter X-linked myotubular myopathy
p.Glu487Ter Single submitter X-linked myotubular myopathy
p.Glu48fs Single submitter
p.Glu76Ter Single submitter X-linked myotubular myopathy
p.Gly294Ter Single submitter
p.Gly402Ala Single submitter X-linked myotubular myopathy
p.Gly402Val Single submitter X-linked myotubular myopathy
p.Gly476Val Single submitter X-linked myotubular myopathy
p.His374Asp Single submitter X-linked myotubular myopathy
p.Ile264Ser Single submitter X-linked myotubular myopathy
p.Ile44fs Single submitter X-linked myotubular myopathy
p.Ile52fs Single submitter X-linked myotubular myopathy
p.Leu228Pro Single submitter X-linked myotubular myopathy
p.Leu261fs Single submitter X-linked myotubular myopathy
p.Leu274fs Single submitter X-linked myotubular myopathy
p.Leu321fs Single submitter X-linked myotubular myopathy
p.Leu393fs Single submitter X-linked myotubular myopathy
p.Leu439fs Single submitter
p.Leu467fs Single submitter Generalized hypotonia
p.Leu70Phe Single submitter X-linked myotubular myopathy ⚠
p.Leu87Pro Single submitter X-linked myotubular myopathy
p.Lys114Ter Single submitter X-linked myotubular myopathy
p.Lys158fs Single submitter X-linked myotubular myopathy
p.Lys190_Cys191insTer Single submitter X-linked myotubular myopathy
p.Lys47del Single submitter X-linked myotubular myopathy
p.Lys516Ter Single submitter X-linked myotubular myopathy
p.Met133fs Single submitter X-linked myotubular myopathy
p.Met1Arg Single submitter X-linked myotubular myopathy
p.Met1Ile Single submitter X-linked myotubular myopathy
p.Met1Thr Single submitter X-linked myotubular myopathy
p.Phe134fs Single submitter X-linked myotubular myopathy
p.Phe438fs Single submitter
p.Phe478_Leu479insPhePhePhePhePhePhePheXaaXaaXaaXaaSerSerAlaSerLeuThrLeuGlyAlaValAspArgSerCysSerTyrSerAlaIleLeuAlaProProProGlyThrPhe Single submitter X-linked myotubular myopathy
p.Phe478Ser Single submitter X-linked myotubular myopathy
p.Pro436fs Single submitter X-linked myotubular myopathy
p.Pro453fs Single submitter
p.Ser209fs Single submitter X-linked myotubular myopathy
p.Ser320Pro Single submitter X-linked myotubular myopathy
p.Ser339fs Single submitter X-linked myotubular myopathy
p.Ser370Ter Single submitter
p.Ser387Tyr Single submitter X-linked myotubular myopathy
p.Ser472fs Single submitter
p.Ser7fs Single submitter
p.Thr66Ile Single submitter
p.Trp164fs Single submitter X-linked myotubular myopathy
p.Trp183Ter Single submitter X-linked myotubular myopathy
p.Trp337fs Single submitter X-linked myotubular myopathy
p.Trp379Ter Single submitter X-linked myotubular myopathy
p.Trp411Ter Single submitter X-linked myotubular myopathy
p.Tyr140Ter Single submitter X-linked myotubular myopathy
p.Tyr260Ser Single submitter X-linked myotubular myopathy
p.Tyr397Ter Single submitter X-linked myotubular myopathy
p.Tyr537Ter Single submitter
p.Tyr71_Leu72insTer Single submitter X-linked myotubular myopathy
p.Tyr9Ter Single submitter X-linked myotubular myopathy
p.Val204Gly Single submitter X-linked myotubular myopathy
p.Val364fs Single submitter X-linked myotubular myopathy
p.Val373fs Single submitter X-linked myotubular myopathy
p.Val49Phe Single submitter X-linked myotubular myopathy ⚠
c.1053+1G>A No assertion criteria X-linked myotubular myopathy
p.Glu48Ter No assertion criteria MTM1-related disorder
p.Leu202fs No assertion criteria X-linked myotubular myopathy
p.Lys323fs No assertion criteria X-linked myotubular myopathy
p.Thr165fs No assertion criteria MTM1-related disorder
p.Tyr198Ser No assertion criteria X-linked myotubular myopathy

Pathogenic/Likely pathogenic 18

c.1260+1G>A Multiple submitters X-linked myotubular myopathy
c.1261-10A>G Multiple submitters centronuclear myopathy
c.231+1G>A Multiple submitters X-linked myotubular myopathy
c.232-26_232-23del Multiple submitters X-linked myotubular myopathy
p.Arg421Gln Multiple submitters MTM1-related disorder
p.Arg421Leu Multiple submitters
p.Asn189Ser Multiple submitters X-linked myotubular myopathy
p.Asn503fs Multiple submitters X-linked myotubular myopathy
p.Gln489fs Multiple submitters X-linked myotubular myopathy
p.Gly378Arg Multiple submitters Inborn genetic diseases
p.Gly415Glu Multiple submitters X-linked myotubular myopathy
p.Ile502Lys Multiple submitters X-linked myotubular myopathy
p.Pro179Ser Multiple submitters MTM1-related disorder
p.Pro39fs Multiple submitters X-linked myotubular myopathy
p.Thr186Ile Multiple submitters X-linked myotubular myopathy
p.Tyr397Cys Multiple submitters MTM1-related disorder
p.Tyr51Ter Multiple submitters MTM1-related disorder
p.Val227Met Multiple submitters X-linked myotubular myopathy

Likely pathogenic 81

p.Gln451= Expert panel centronuclear myopathy
p.His598fs Expert panel X-linked myotubular myopathy
p.Trp230Arg Expert panel centronuclear myopathy
p.Trp230Cys Expert panel centronuclear myopathy
p.Tyr192Cys Expert panel centronuclear myopathy
c.1468-2A>G Multiple submitters X-linked myotubular myopathy
c.342+4A>G Multiple submitters X-linked myotubular myopathy
p.Glu157Lys Multiple submitters X-linked myotubular myopathy ⚠
c.1053+2C>T Single submitter X-linked myotubular myopathy
c.1261-2A>C Single submitter X-linked myotubular myopathy
c.1261-666C>T Single submitter X-linked myotubular myopathy
c.1354-2A>T Single submitter X-linked myotubular myopathy
c.137-3T>G Single submitter
c.231+2T>C Single submitter X-linked myotubular myopathy
c.232-16T>G Single submitter
c.343-1G>A Single submitter X-linked myotubular myopathy
c.444+2T>A Single submitter X-linked myotubular myopathy
c.529-2A>C Single submitter X-linked myotubular myopathy
c.63+3A>T Single submitter X-linked myotubular myopathy
c.679-1G>A Single submitter X-linked myotubular myopathy
c.679-2A>C Single submitter X-linked myotubular myopathy
p.Ala279Gly Single submitter ⚠
p.Ala287Asp Single submitter Inborn genetic diseases
p.Ala34fs Single submitter X-linked myotubular myopathy
p.Arg117fs Single submitter X-linked myotubular myopathy
p.Arg130Ter Single submitter X-linked myotubular myopathy
p.Arg184Ter Single submitter X-linked myotubular myopathy
p.Arg280Ter Single submitter X-linked myotubular myopathy
p.Arg69fs Single submitter X-linked myotubular myopathy
p.Asp257fs Single submitter
p.Asp25fs Single submitter MTM1-related disorder
p.Asp380His Single submitter X-linked myotubular myopathy
p.Asp394His Single submitter X-linked myotubular myopathy
p.Asp443Ala Single submitter X-linked myotubular myopathy
p.Gln244fs Single submitter X-linked myotubular myopathy
p.Gln440fs Single submitter X-linked myotubular myopathy
p.Glu135fs Single submitter X-linked myotubular myopathy
p.Glu401Ter Single submitter X-linked myotubular myopathy
p.Glu404Asp Single submitter X-linked myotubular myopathy
p.Glu566Ter Single submitter X-linked myotubular myopathy
p.Gly163Ter Single submitter X-linked myotubular myopathy
p.Gly248Val Single submitter X-linked myotubular myopathy
p.Gly378Ter Single submitter X-linked myotubular myopathy
p.Gly378Val Single submitter X-linked myotubular myopathy
p.Gly402Arg Single submitter X-linked myotubular myopathy
p.His312fs Single submitter X-linked myotubular myopathy
p.His349fs Single submitter X-linked myotubular myopathy
p.Ile442Asn Single submitter X-linked myotubular myopathy
p.Ile50fs Single submitter MTM1-related disorder
p.Leu109Pro Single submitter X-linked myotubular myopathy
p.Leu194Pro Single submitter
p.Leu309fs Single submitter X-linked myotubular myopathy
p.Leu341Ter Single submitter X-linked myotubular myopathy
p.Leu372Pro Single submitter
p.Leu385fs Single submitter X-linked myotubular myopathy
p.Leu463Ser Single submitter X-linked myotubular myopathy
p.Leu463Trp Single submitter X-linked myotubular myopathy
p.Lys255Ter Single submitter X-linked myotubular myopathy
p.Lys269Ter Single submitter X-linked myotubular myopathy
p.Lys325Ter Single submitter
p.Phe307fs Single submitter X-linked myotubular myopathy
p.Phe308del Single submitter X-linked myotubular myopathy
p.Phe458Val Single submitter X-linked myotubular myopathy
p.Pro199fs Single submitter X-linked myotubular myopathy
p.Pro226Thr Single submitter X-linked myotubular myopathy
p.Pro436Leu Single submitter X-linked myotubular myopathy
p.Ser101fs Single submitter X-linked myotubular myopathy
p.Ser243Asn Single submitter X-linked myotubular myopathy
p.Ser399fs Single submitter X-linked myotubular myopathy
p.Ser413fs Single submitter X-linked myotubular myopathy
p.Ser593Ter Single submitter X-linked myotubular myopathy
p.Trp164Ter Single submitter X-linked myotubular myopathy
p.Trp337Ter Single submitter X-linked myotubular myopathy
p.Trp346Arg Single submitter X-linked myotubular myopathy
p.Trp346Ter Single submitter X-linked myotubular myopathy
p.Trp411Cys Single submitter X-linked myotubular myopathy
p.Trp534Ser Single submitter X-linked myotubular myopathy
p.Trp534Ter Single submitter
p.Tyr198His Single submitter X-linked myotubular myopathy
p.Val353fs Single submitter X-linked myotubular myopathy
p.Ala141fs No assertion criteria X-linked myotubular myopathy

Conflicting classifications of pathogenicity 33

c.1054-5G>C Single submitter X-linked myotubular myopathy
c.1260+5G>A Single submitter X-linked myotubular myopathy
p.Ala141Val Single submitter Inborn genetic diseases ⚠
p.Ala577Thr Single submitter Inborn genetic diseases ⚠
p.Arg29Gln Single submitter Inborn genetic diseases ⚠
p.Arg37Gln Single submitter Inborn genetic diseases ⚠
p.Asn459Ser Single submitter Inborn genetic diseases ⚠
p.Asp210Gly Single submitter X-linked myotubular myopathy ⚠
p.Glu234Gln Single submitter Inborn genetic diseases ⚠
p.Gly248Ser Single submitter X-linked myotubular myopathy ⚠
p.His469Arg Single submitter X-linked myotubular myopathy ⚠
p.His469Asp Single submitter X-linked myotubular myopathy ⚠
p.His598Arg Single submitter Inborn genetic diseases ⚠
p.Ile412Val Single submitter X-linked myotubular myopathy ⚠
p.Ile59Thr Single submitter X-linked myotubular myopathy ⚠
p.Leu178Ser Single submitter X-linked myotubular myopathy ⚠
p.Leu213Phe Single submitter X-linked myotubular myopathy ⚠
p.Lys351Arg Single submitter Inborn genetic diseases ⚠
p.Lys490Arg Single submitter Inborn genetic diseases ⚠
p.Met249Val Single submitter Inborn genetic diseases ⚠
p.Phe456Ser Single submitter X-linked myotubular myopathy ⚠
p.Phe513_Leu522delinsAsnTrpIle Single submitter
p.Ser101Gly Single submitter X-linked myotubular myopathy ⚠
p.Ser13Phe Single submitter X-linked myotubular myopathy ⚠
p.Ser91Leu Single submitter X-linked myotubular myopathy ⚠
p.Thr197Ile Single submitter X-linked myotubular myopathy ⚠
p.Thr6Ala Single submitter X-linked myotubular myopathy ⚠
p.Thr77Met Single submitter X-linked myotubular myopathy ⚠
p.Trp499Arg Single submitter X-linked myotubular myopathy ⚠
p.Tyr567= Single submitter X-linked myotubular myopathy
p.Val170Leu Single submitter X-linked myotubular myopathy ⚠
p.Val263Gly Single submitter X-linked myotubular myopathy ⚠
p.Val49Ile Single submitter X-linked myotubular myopathy ⚠

Benign 59

p.Ala485Val Expert panel centronuclear myopathy
p.Cys113= Expert panel centronuclear myopathy
p.Ile568Val Expert panel centronuclear myopathy
p.Leu194= Expert panel centronuclear myopathy
c.1053+23T>C Multiple submitters
c.1260+17A>G Multiple submitters X-linked myotubular myopathy
c.232-28C>T Multiple submitters X-linked myotubular myopathy
c.342+106C>G Multiple submitters
c.528+70G>A Multiple submitters
p.Glu305Lys Multiple submitters X-linked myotubular myopathy ⚠
p.Ile405Val Multiple submitters X-linked myotubular myopathy
c.1053+20dup Single submitter X-linked myotubular myopathy
c.1054-193A>G Single submitter
c.1054-201A>T Single submitter
c.1054-9_1054-6del Single submitter X-linked myotubular myopathy
c.1260+240A>G Single submitter
c.1261-6A>G Single submitter X-linked myotubular myopathy
c.137-11del Single submitter X-linked myotubular myopathy
c.1467+24del Single submitter X-linked myotubular myopathy
c.1467+24dup Single submitter X-linked myotubular myopathy
c.1468-21TC[2] Single submitter X-linked myotubular myopathy
c.1644+18G>A Single submitter X-linked myotubular myopathy
c.1645-8C>T Single submitter X-linked myotubular myopathy
c.232-12dup Single submitter X-linked myotubular myopathy
c.232-147G>C Single submitter
c.343-3dup Single submitter X-linked myotubular myopathy
c.445-12dup Single submitter X-linked myotubular myopathy
c.529-257C>G Single submitter
c.529-9dup Single submitter X-linked myotubular myopathy
c.64-50A>T Single submitter
c.867+180A>C Single submitter
c.868-9G>T Single submitter X-linked myotubular myopathy
c.-10-152= Single submitter
c.-10-328A>G Single submitter
p.Ala485= Single submitter X-linked myotubular myopathy
p.Ala99= Single submitter X-linked myotubular myopathy
p.Ala99Val Single submitter X-linked myotubular myopathy
p.Arg207His Single submitter X-linked myotubular myopathy
p.Asn180Ser Single submitter X-linked myotubular myopathy
p.Glu333= Single submitter X-linked myotubular myopathy
p.His182= Single submitter X-linked myotubular myopathy
p.Ile19Leu Single submitter X-linked myotubular myopathy
p.Leu261= Single submitter X-linked myotubular myopathy
p.Leu75= Single submitter X-linked myotubular myopathy
p.Lys252Arg Single submitter X-linked myotubular myopathy
p.Phe121= Single submitter X-linked myotubular myopathy
p.Phe187= Single submitter
p.Phe396= Single submitter X-linked myotubular myopathy
p.Phe403= Single submitter X-linked myotubular myopathy
p.Phe418= Single submitter
p.Pro149Arg Single submitter X-linked myotubular myopathy ⚠
p.Pro205= Single submitter X-linked myotubular myopathy
p.Pro86= Single submitter X-linked myotubular myopathy
p.Ser399Asn Single submitter X-linked myotubular myopathy ⚠
p.Thr138= Single submitter X-linked myotubular myopathy
p.Thr237Met Single submitter X-linked myotubular myopathy
p.Thr430= Single submitter X-linked myotubular myopathy
p.Tyr471Cys Single submitter X-linked myotubular myopathy
p.Val247= Single submitter X-linked myotubular myopathy

Benign/Likely benign 13

c.1260+3G>A Multiple submitters Inborn genetic diseases
c.1261-20A>G Multiple submitters X-linked myotubular myopathy
c.1354-7del Multiple submitters X-linked myotubular myopathy
c.136+17A>G Multiple submitters X-linked myotubular myopathy
c.136+9C>T Multiple submitters X-linked myotubular myopathy
c.137-11dup Multiple submitters X-linked myotubular myopathy
c.1468-10C>T Multiple submitters X-linked myotubular myopathy
c.63+7del Multiple submitters X-linked myotubular myopathy
c.64-14T>C Multiple submitters X-linked myotubular myopathy
c.867+13A>C Multiple submitters X-linked myotubular myopathy
c.867+17A>G Multiple submitters X-linked myotubular myopathy
p.Asp565= Multiple submitters X-linked myotubular myopathy
p.Val360= Multiple submitters X-linked myotubular myopathy

Likely benign 265

c.1353+229A>G Multiple submitters
c.136+10T>G Multiple submitters X-linked myotubular myopathy
c.232-7A>G Multiple submitters X-linked myotubular myopathy
c.444+16C>G Multiple submitters X-linked myotubular myopathy
c.445-17T>G Multiple submitters X-linked myotubular myopathy
p.Cys242= Multiple submitters X-linked myotubular myopathy
p.Gly98= Multiple submitters Inborn genetic diseases
p.Pro586= Multiple submitters X-linked myotubular myopathy
c.1053+105A>C Single submitter
c.1053+14G>T Single submitter X-linked myotubular myopathy
c.1053+8T>C Single submitter X-linked myotubular myopathy
c.1054-15A>G Single submitter X-linked myotubular myopathy
c.1054-18C>G Single submitter X-linked myotubular myopathy
c.1054-18C>T Single submitter X-linked myotubular myopathy
c.1054-4T>C Single submitter X-linked myotubular myopathy
c.1054-6dup Single submitter X-linked myotubular myopathy
c.1260+10C>T Single submitter X-linked myotubular myopathy
c.1260+134C>T Single submitter
c.1260+19T>C Single submitter X-linked myotubular myopathy
c.1260+7A>T Single submitter X-linked myotubular myopathy
c.1261-10A>C Single submitter X-linked myotubular myopathy
c.1261-15C>T Single submitter X-linked myotubular myopathy
c.1261-18C>G Single submitter X-linked myotubular myopathy
c.1261-21_1261-16del Single submitter X-linked myotubular myopathy
c.1353+14G>A Single submitter X-linked myotubular myopathy
c.1353+262C>T Single submitter
c.1353+7A>C Single submitter X-linked myotubular myopathy
c.1353+9T>A Single submitter X-linked myotubular myopathy
c.1354-19_1354-16del Single submitter X-linked myotubular myopathy
c.1354-6G>A Single submitter X-linked myotubular myopathy
c.136+11G>C Single submitter X-linked myotubular myopathy
c.136+14G>A Single submitter X-linked myotubular myopathy
c.136+172= Single submitter
c.136+7A>T Single submitter X-linked myotubular myopathy
c.137-18del Single submitter X-linked myotubular myopathy
c.1467+17T>A Single submitter X-linked myotubular myopathy
c.1468-11TC[2] Single submitter X-linked myotubular myopathy
c.1468-12_1468-11del Single submitter X-linked myotubular myopathy
c.1468-12G>A Single submitter X-linked myotubular myopathy
c.1468-12G>C Single submitter X-linked myotubular myopathy
c.1468-12G>T Single submitter X-linked myotubular myopathy
c.1468-18_1468-13del Single submitter X-linked myotubular myopathy
c.1468-5T>C Single submitter X-linked myotubular myopathy
c.1468-8C>T Single submitter X-linked myotubular myopathy
c.1644+19T>G Single submitter X-linked myotubular myopathy
c.1645-13T>C Single submitter X-linked myotubular myopathy
c.1645-14_1645-13del Single submitter X-linked myotubular myopathy
c.1645-17T>A Single submitter X-linked myotubular myopathy
c.1645-17T>G Single submitter X-linked myotubular myopathy
c.1645-19A>C Single submitter X-linked myotubular myopathy
c.1645-5T>A Single submitter X-linked myotubular myopathy
c.231+10A>G Single submitter X-linked myotubular myopathy
c.231+30C>A Single submitter
c.231+8G>A Single submitter X-linked myotubular myopathy
c.232-11G>T Single submitter X-linked myotubular myopathy
c.232-54A>T Single submitter X-linked myotubular myopathy
c.232-8C>T Single submitter X-linked myotubular myopathy
c.342+12G>A Single submitter X-linked myotubular myopathy
c.342+15A>G Single submitter
c.342+17T>C Single submitter X-linked myotubular myopathy
c.342+19_342+22del Single submitter X-linked myotubular myopathy
c.342+19T>C Single submitter X-linked myotubular myopathy
c.342+9T>C Single submitter X-linked myotubular myopathy
c.342+9T>G Single submitter X-linked myotubular myopathy
c.343-100A>G Single submitter
c.343-12C>T Single submitter X-linked myotubular myopathy
c.343-158A>G Single submitter
c.343-16T>C Single submitter X-linked myotubular myopathy
c.343-192C>T Single submitter
c.444+10A>G Single submitter X-linked myotubular myopathy
c.444+12T>C Single submitter X-linked myotubular myopathy
c.444+15T>C Single submitter X-linked myotubular myopathy
c.444+17T>C Single submitter X-linked myotubular myopathy
c.444+19_444+21del Single submitter X-linked myotubular myopathy
c.444+19C>G Single submitter X-linked myotubular myopathy
c.445-20T>C Single submitter X-linked myotubular myopathy
c.445-33C>T Single submitter
c.528+1035G>A Single submitter
c.528+10dup Single submitter X-linked myotubular myopathy
c.528+13A>G Single submitter X-linked myotubular myopathy
c.528+13A>T Single submitter X-linked myotubular myopathy
c.528+17T>A Single submitter X-linked myotubular myopathy
c.528+18_528+22dup Single submitter X-linked myotubular myopathy
c.528+18A>G Single submitter X-linked myotubular myopathy
c.528+6A>G Single submitter
c.528+7T>C Single submitter X-linked myotubular myopathy
c.529-324G>A Single submitter
c.529-5C>T Single submitter X-linked myotubular myopathy
c.529-76G>A Single submitter
c.63+16A>G Single submitter X-linked myotubular myopathy
c.63+183dup Single submitter
c.63+21del Single submitter X-linked myotubular myopathy
c.63+252C>T Single submitter
c.64-198A>G Single submitter
c.64-7T>C Single submitter X-linked myotubular myopathy
c.64-9T>C Single submitter X-linked myotubular myopathy
c.678+18C>T Single submitter X-linked myotubular myopathy
c.678+19G>A Single submitter X-linked myotubular myopathy
c.678+7A>G Single submitter X-linked myotubular myopathy
c.678+9T>C Single submitter X-linked myotubular myopathy
c.678+9T>G Single submitter X-linked myotubular myopathy
c.679-10T>G Single submitter X-linked myotubular myopathy
c.679-150C>G Single submitter
c.679-19C>G Single submitter X-linked myotubular myopathy
c.679-22_679-17del Single submitter X-linked myotubular myopathy
c.679-4A>G Single submitter X-linked myotubular myopathy
c.867+13_867+15del Single submitter X-linked myotubular myopathy
c.867+8G>A Single submitter X-linked myotubular myopathy
c.868-11T>C Single submitter X-linked myotubular myopathy
c.868-14A>G Single submitter X-linked myotubular myopathy
c.868-9_868-7del Single submitter X-linked myotubular myopathy
c.868-9del Single submitter X-linked myotubular myopathy
c.-10-248C>T Single submitter
c.*182C>T Single submitter
p.Ala141= Single submitter X-linked myotubular myopathy
p.Ala152= Single submitter X-linked myotubular myopathy
p.Ala2= Single submitter X-linked myotubular myopathy
p.Ala200= Single submitter X-linked myotubular myopathy
p.Ala208= Single submitter X-linked myotubular myopathy
p.Ala300= Single submitter X-linked myotubular myopathy
p.Ala304= Single submitter X-linked myotubular myopathy
p.Ala34= Single submitter X-linked myotubular myopathy
p.Ala383= Single submitter X-linked myotubular myopathy
p.Ala526= Single submitter X-linked myotubular myopathy
p.Ala580= Single submitter X-linked myotubular myopathy
p.Arg207Cys Single submitter X-linked myotubular myopathy
p.Arg214= Single submitter X-linked myotubular myopathy
p.Arg215= Single submitter X-linked myotubular myopathy
p.Arg222= Single submitter X-linked myotubular myopathy
p.Arg29= Single submitter X-linked myotubular myopathy
p.Arg318= Single submitter X-linked myotubular myopathy
p.Arg37= Single submitter X-linked myotubular myopathy
p.Arg398= Single submitter X-linked myotubular myopathy
p.Arg434= Single submitter X-linked myotubular myopathy
p.Arg494= Single submitter X-linked myotubular myopathy
p.Arg520= Single submitter X-linked myotubular myopathy
p.Arg544= Single submitter X-linked myotubular myopathy
p.Arg564= Single submitter X-linked myotubular myopathy
p.Arg62= Single submitter
p.Asn155= Single submitter X-linked myotubular myopathy
p.Asn160= Single submitter X-linked myotubular myopathy
p.Asn168= Single submitter X-linked myotubular myopathy
p.Asn28Ser Single submitter X-linked myotubular myopathy
p.Asn303= Single submitter X-linked myotubular myopathy
p.Asn331= Single submitter
p.Asn503= Single submitter X-linked myotubular myopathy
p.Asn536= Single submitter X-linked myotubular myopathy
p.Asp115= Single submitter X-linked myotubular myopathy
p.Asp132= Single submitter X-linked myotubular myopathy
p.Asp212= Single submitter X-linked myotubular myopathy
p.Asp262Asn Single submitter X-linked myotubular myopathy
p.Asp278= Single submitter X-linked myotubular myopathy
p.Asp298= Single submitter X-linked myotubular myopathy
p.Asp310= Single submitter X-linked myotubular myopathy
p.Asp362= Single submitter X-linked myotubular myopathy
p.Asp377= Single submitter X-linked myotubular myopathy
p.Asp443= Single submitter X-linked myotubular myopathy
p.Cys473= Single submitter X-linked myotubular myopathy
p.Gln125= Single submitter X-linked myotubular myopathy
p.Gln270= Single submitter X-linked myotubular myopathy
p.Gln359= Single submitter X-linked myotubular myopathy
p.Gln461= Single submitter X-linked myotubular myopathy
p.Gln555= Single submitter X-linked myotubular myopathy
p.Glu135= Single submitter
p.Glu156Lys Single submitter X-linked myotubular myopathy
p.Glu17= Single submitter X-linked myotubular myopathy
p.Glu258= Single submitter X-linked myotubular myopathy
p.Glu33= Single submitter X-linked myotubular myopathy
p.Glu483= Single submitter X-linked myotubular myopathy
p.Glu507= Single submitter X-linked myotubular myopathy
p.Glu517= Single submitter X-linked myotubular myopathy
p.Glu532= Single submitter X-linked myotubular myopathy
p.Glu554= Single submitter X-linked myotubular myopathy
p.Glu573= Single submitter X-linked myotubular myopathy
p.Gly251= Single submitter X-linked myotubular myopathy
p.Gly415= Single submitter X-linked myotubular myopathy
p.Gly423= Single submitter X-linked myotubular myopathy
p.Gly57= Single submitter X-linked myotubular myopathy
p.His315= Single submitter X-linked myotubular myopathy
p.His336= Single submitter X-linked myotubular myopathy
p.His349= Single submitter X-linked myotubular myopathy
p.His374= Single submitter X-linked myotubular myopathy
p.Ile136= Single submitter X-linked myotubular myopathy
p.Ile225= Single submitter X-linked myotubular myopathy
p.Ile239= Single submitter X-linked myotubular myopathy
p.Ile271= Single submitter X-linked myotubular myopathy
p.Ile464= Single submitter X-linked myotubular myopathy
p.Leu123= Single submitter X-linked myotubular myopathy
p.Leu137= Single submitter X-linked myotubular myopathy
p.Leu144= Single submitter X-linked myotubular myopathy
p.Leu150= Single submitter X-linked myotubular myopathy
p.Leu201= Single submitter X-linked myotubular myopathy
p.Leu202= Single submitter X-linked myotubular myopathy
p.Leu228= Single submitter X-linked myotubular myopathy
p.Leu246= Single submitter X-linked myotubular myopathy
p.Leu352= Single submitter X-linked myotubular myopathy
p.Leu354= Single submitter X-linked myotubular myopathy
p.Leu385= Single submitter X-linked myotubular myopathy
p.Leu393= Single submitter X-linked myotubular myopathy
p.Leu43= Single submitter X-linked myotubular myopathy
p.Leu501= Single submitter X-linked myotubular myopathy
p.Leu522= Single submitter X-linked myotubular myopathy
p.Leu531= Single submitter X-linked myotubular myopathy
p.Leu533= Single submitter X-linked myotubular myopathy
p.Leu560= Single submitter X-linked myotubular myopathy
p.Leu560Phe Single submitter X-linked myotubular myopathy
p.Leu561= Single submitter X-linked myotubular myopathy
p.Leu571= Single submitter X-linked myotubular myopathy
p.Leu574= Single submitter X-linked myotubular myopathy
p.Leu576= Single submitter X-linked myotubular myopathy
p.Leu72= Single submitter X-linked myotubular myopathy
p.Lys190= Single submitter X-linked myotubular myopathy
p.Lys506= Single submitter X-linked myotubular myopathy
p.Lys581= Single submitter X-linked myotubular myopathy
p.Lys60= Single submitter X-linked myotubular myopathy
p.Lys95= Single submitter X-linked myotubular myopathy
p.Phe142= Single submitter X-linked myotubular myopathy
p.Phe441= Single submitter X-linked myotubular myopathy
p.Phe603_Ter604insTer Single submitter X-linked myotubular myopathy
p.Pro149= Single submitter X-linked myotubular myopathy
p.Pro281= Single submitter X-linked myotubular myopathy
p.Pro330= Single submitter X-linked myotubular myopathy
p.Pro543= Single submitter X-linked myotubular myopathy
p.Pro550= Single submitter X-linked myotubular myopathy
p.Pro585= Single submitter X-linked myotubular myopathy
p.Pro586Ser Single submitter X-linked myotubular myopathy
p.Pro589Arg Single submitter X-linked myotubular myopathy
p.Pro597= Single submitter X-linked myotubular myopathy
p.Ser129= Single submitter X-linked myotubular myopathy
p.Ser229= Single submitter X-linked myotubular myopathy
p.Ser272= Single submitter X-linked myotubular myopathy
p.Ser282= Single submitter X-linked myotubular myopathy
p.Ser5= Single submitter X-linked myotubular myopathy
p.Ser593= Single submitter X-linked myotubular myopathy
p.Ser7= Single submitter X-linked myotubular myopathy
p.Ser91= Single submitter X-linked myotubular myopathy
p.Thr112= Single submitter X-linked myotubular myopathy
p.Thr165= Single submitter X-linked myotubular myopathy
p.Thr22= Single submitter X-linked myotubular myopathy
p.Thr237= Single submitter X-linked myotubular myopathy
p.Thr275= Single submitter X-linked myotubular myopathy
p.Thr355= Single submitter X-linked myotubular myopathy
p.Thr386= Single submitter X-linked myotubular myopathy
p.Thr42= Single submitter X-linked myotubular myopathy
p.Thr495= Single submitter X-linked myotubular myopathy
p.Thr587= Single submitter X-linked myotubular myopathy
p.Thr6= Single submitter X-linked myotubular myopathy
p.Tyr140= Single submitter X-linked myotubular myopathy
p.Tyr167= Single submitter X-linked myotubular myopathy
p.Tyr173= Single submitter X-linked myotubular myopathy
p.Tyr192= Single submitter X-linked myotubular myopathy
p.Tyr295= Single submitter X-linked myotubular myopathy
p.Tyr51= Single submitter X-linked myotubular myopathy
p.Tyr514= Single submitter X-linked myotubular myopathy
p.Tyr9= Single submitter X-linked myotubular myopathy
p.Val161= Single submitter X-linked myotubular myopathy
p.Val170= Single submitter X-linked myotubular myopathy
p.Val227= Single submitter X-linked myotubular myopathy
p.Val240= Single submitter X-linked myotubular myopathy
p.Val263Ile Single submitter X-linked myotubular myopathy
p.Val324= Single submitter X-linked myotubular myopathy
p.Val332= Single submitter X-linked myotubular myopathy
p.Val373= Single submitter X-linked myotubular myopathy
p.Val49= Single submitter X-linked myotubular myopathy
p.Val525= Single submitter X-linked myotubular myopathy

Uncertain significance 192

c.137-7T>G Expert panel centronuclear myopathy
p.Asp431Asn Expert panel centronuclear myopathy
p.Ala304Val Multiple submitters X-linked myotubular myopathy ⚠
p.Arg174Gly Multiple submitters X-linked myotubular myopathy
p.Arg21Lys Multiple submitters X-linked myotubular myopathy ⚠
p.Arg24Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg318Gln Multiple submitters X-linked myotubular myopathy ⚠
p.Arg486Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg488Ser Multiple submitters X-linked myotubular myopathy ⚠
p.Arg556His Multiple submitters Inborn genetic diseases ⚠
p.Asn511Lys Multiple submitters autosomal dominant centronuclear myopathy ⚠
p.Asp433Asn Multiple submitters ⚠
p.Asp78Val Multiple submitters Inborn genetic diseases ⚠
p.Gln447Arg Multiple submitters X-linked myotubular myopathy ⚠
p.Gln575Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu157Gln Multiple submitters X-linked myotubular myopathy ⚠
p.Glu457Lys Multiple submitters X-linked myotubular myopathy ⚠
p.His416Gln Multiple submitters X-linked myotubular myopathy ⚠
p.Ile350Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile412Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile59Val Multiple submitters X-linked myotubular myopathy ⚠
p.Leu137Pro Multiple submitters X-linked myotubular myopathy ⚠
p.Leu274Arg Multiple submitters X-linked myotubular myopathy ⚠
p.Leu463Phe Multiple submitters X-linked myotubular myopathy ⚠
p.Pro585Ala Multiple submitters Inborn genetic diseases ⚠
p.Ser369Arg Multiple submitters X-linked myotubular myopathy ⚠
p.Ser395Asn Multiple submitters X-linked myotubular myopathy ⚠
p.Ser91Met Multiple submitters X-linked myotubular myopathy
p.Thr267Ile Multiple submitters X-linked myotubular myopathy
p.Thr492Ile Multiple submitters X-linked myotubular myopathy ⚠
p.Val161Met Multiple submitters X-linked myotubular myopathy ⚠
p.Val316Ile Multiple submitters X-linked myotubular myopathy ⚠
c.1053+5G>T Single submitter X-linked myotubular myopathy
c.1353+4A>C Single submitter X-linked myotubular myopathy
c.136+172T>C Single submitter X-linked myotubular myopathy
c.136+5G>A Single submitter X-linked myotubular myopathy
c.1468-13T>A Single submitter
c.231+2771A>G Single submitter
c.231+3A>C Single submitter X-linked myotubular myopathy
c.342+38C>T Single submitter X-linked myotubular myopathy
c.342+3A>T Single submitter
c.678+5G>A Single submitter X-linked myotubular myopathy
c.678+6T>A Single submitter X-linked myotubular myopathy
c.867+4A>T Single submitter X-linked myotubular myopathy
c.-10-3115_-10-1176delinsCA Single submitter X-linked myotubular myopathy
p.Ala122Ser Single submitter X-linked myotubular myopathy
p.Ala141Pro Single submitter X-linked myotubular myopathy ⚠
p.Ala2Thr Single submitter X-linked myotubular myopathy
p.Ala2Val Single submitter X-linked myotubular myopathy ⚠
p.Ala300Thr Single submitter X-linked myotubular myopathy ⚠
p.Ala304Thr Single submitter Inborn genetic diseases ⚠
p.Ala357Pro Single submitter ⚠
p.Ala577Ser Single submitter ⚠
p.Ala99Thr Single submitter X-linked myotubular myopathy ⚠
p.Arg120Lys Single submitter X-linked myotubular myopathy ⚠
p.Arg214Gln Single submitter X-linked myotubular myopathy ⚠
p.Arg214Trp Single submitter X-linked myotubular myopathy ⚠
p.Arg222Gln Single submitter X-linked myotubular myopathy ⚠
p.Arg224Gly Single submitter X-linked myotubular myopathy ⚠
p.Arg241His Single submitter ⚠
p.Arg24Pro Single submitter X-linked myotubular myopathy ⚠
p.Arg318Trp Single submitter X-linked myotubular myopathy ⚠
p.Arg434Cys Single submitter X-linked myotubular myopathy ⚠
p.Arg474Gly Single submitter ⚠
p.Arg529His Single submitter Inborn genetic diseases ⚠
p.Arg556Cys Single submitter X-linked myotubular myopathy ⚠
p.Arg570Gln Single submitter X-linked myotubular myopathy ⚠
p.Arg570Trp Single submitter Inborn genetic diseases ⚠
p.Arg69His Single submitter X-linked myotubular myopathy ⚠
p.Asn155Tyr Single submitter X-linked myotubular myopathy ⚠
p.Asn168Ser Single submitter ⚠
p.Asn223Asp Single submitter X-linked myotubular myopathy ⚠
p.Asn313Ser Single submitter ⚠
p.Asn578Thr Single submitter X-linked myotubular myopathy ⚠
p.Asp162Ile Single submitter X-linked myotubular myopathy
p.Asp210Val Single submitter X-linked myotubular myopathy ⚠
p.Asp211Tyr Single submitter Inborn genetic diseases ⚠
p.Asp257Gly Single submitter X-linked myotubular myopathy ⚠
p.Asp25Gly Single submitter X-linked myotubular myopathy ⚠
p.Asp262Ala Single submitter ⚠
p.Asp362His Single submitter X-linked myotubular myopathy ⚠
p.Asp394Gly Single submitter X-linked myotubular myopathy ⚠
p.Asp565Asn Single submitter X-linked myotubular myopathy ⚠
p.Asp78His Single submitter X-linked myotubular myopathy ⚠
p.Cys195Phe Single submitter ⚠
p.Cys482Arg Single submitter ⚠
p.Gln176= Single submitter X-linked myotubular myopathy
p.Gln176Lys Single submitter X-linked myotubular myopathy ⚠
p.Gln270Arg Single submitter ⚠
p.Gln359Glu Single submitter Inborn genetic diseases ⚠
p.Gln575His Single submitter ⚠
p.Gln575Pro Single submitter X-linked myotubular myopathy ⚠
p.Glu234Asp Single submitter Inborn genetic diseases ⚠
p.Glu305Gln Single submitter X-linked myotubular myopathy ⚠
p.Glu410Gln Single submitter ⚠
p.Glu41Gly Single submitter ⚠
p.Glu48= Single submitter X-linked myotubular myopathy
p.Glu532Asp Single submitter Inborn genetic diseases
p.Glu566Gly Single submitter X-linked myotubular myopathy ⚠
p.Glu566Lys Single submitter X-linked myotubular myopathy ⚠
p.Gly127Asp Single submitter X-linked myotubular myopathy ⚠
p.Gly177Val Single submitter X-linked myotubular myopathy ⚠
p.Gly26_Asp30del Single submitter X-linked myotubular myopathy
p.His181Gln Single submitter X-linked myotubular myopathy ⚠
p.His182Tyr Single submitter X-linked myotubular myopathy ⚠
p.His302Arg Single submitter X-linked myotubular myopathy ⚠
p.His312Arg Single submitter ⚠
p.His315Arg Single submitter X-linked myotubular myopathy ⚠
p.His469Asn Single submitter ⚠
p.His469Pro Single submitter X-linked myotubular myopathy ⚠
p.Ile185Leu Single submitter X-linked myotubular myopathy ⚠
p.Ile188Leu Single submitter X-linked myotubular myopathy ⚠
p.Ile311Val Single submitter X-linked myotubular myopathy ⚠
p.Ile350Phe Single submitter ⚠
p.Ile437Val Single submitter Inborn genetic diseases ⚠
p.Ile502Thr Single submitter
p.Ile52Met Single submitter X-linked myotubular myopathy ⚠
p.Ile52Val Single submitter Inborn genetic diseases ⚠
p.Ile93Thr Single submitter X-linked myotubular myopathy ⚠
p.Leu202Phe Single submitter X-linked myotubular myopathy ⚠
p.Leu213Ile Single submitter ⚠
p.Leu321Phe Single submitter X-linked myotubular myopathy ⚠
p.Lys158Glu Single submitter Inborn genetic diseases ⚠
p.Lys20Asn Single submitter Inborn genetic diseases ⚠
p.Lys47= Single submitter X-linked myotubular myopathy
p.Lys490Asn Single submitter X-linked myotubular myopathy ⚠
p.Lys490Glu Single submitter Inborn genetic diseases ⚠
p.Lys510Arg Single submitter X-linked myotubular myopathy ⚠
p.Lys516Glu Single submitter X-linked myotubular myopathy ⚠
p.Met133Val Single submitter X-linked myotubular myopathy ⚠
p.Met390Leu Single submitter Inborn genetic diseases ⚠
p.Met392Leu Single submitter ⚠
p.Met558Thr Single submitter X-linked myotubular myopathy ⚠
p.Met595Val Single submitter Inborn genetic diseases ⚠
p.Phe187Ser Single submitter X-linked myotubular myopathy ⚠
p.Phe475Leu Single submitter X-linked myotubular myopathy ⚠
p.Phe480Leu Single submitter X-linked myotubular myopathy ⚠
p.Phe509Leu Single submitter X-linked myotubular myopathy ⚠
p.Pro179Thr Single submitter X-linked myotubular myopathy ⚠
p.Pro226= Single submitter X-linked myotubular myopathy
p.Pro245Leu Single submitter X-linked myotubular myopathy ⚠
p.Pro330Leu Single submitter X-linked myotubular myopathy ⚠
p.Pro543Ser Single submitter X-linked myotubular myopathy ⚠
p.Pro543Thr Single submitter X-linked myotubular myopathy
p.Pro550Leu Single submitter X-linked myotubular myopathy ⚠
p.Ser101Arg Single submitter ⚠
p.Ser11Leu Single submitter X-linked myotubular myopathy ⚠
p.Ser147Gly Single submitter X-linked myotubular myopathy ⚠
p.Ser243Gly Single submitter X-linked myotubular myopathy ⚠
p.Ser365Phe Single submitter MTM1-related disorder ⚠
p.Ser497Tyr Single submitter ⚠
p.Ser527Asn Single submitter MTM1-related disorder ⚠
p.Ser583Phe Single submitter X-linked myotubular myopathy ⚠
p.Ser590Thr Single submitter Inborn genetic diseases ⚠
p.Ser593Leu Single submitter X-linked myotubular myopathy ⚠
p.Thr112Ser Single submitter X-linked myotubular myopathy ⚠
p.Thr138Met Single submitter ⚠
p.Thr22Met Single submitter X-linked myotubular myopathy ⚠
p.Thr267Ser Single submitter ⚠
p.Thr454Ile Single submitter X-linked myotubular myopathy ⚠
p.Thr477Ala Single submitter X-linked myotubular myopathy ⚠
p.Thr495Ile Single submitter ⚠
p.Thr587Ala Single submitter X-linked myotubular myopathy ⚠
p.Thr601Ile Single submitter Inborn genetic diseases ⚠
p.Tyr68Asn Single submitter Inborn genetic diseases ⚠
p.Val216Ile Single submitter X-linked myotubular myopathy ⚠
p.Val227Leu Single submitter X-linked myotubular myopathy ⚠
p.Val316Ala Single submitter Inborn genetic diseases ⚠
p.Val445Ala Single submitter ⚠
p.Val496Ala Single submitter ⚠
p.Val521Ile Single submitter X-linked myotubular myopathy ⚠
p.Val525Phe Single submitter X-linked myotubular myopathy ⚠
p.Val535Glu Single submitter X-linked myotubular myopathy ⚠
p.Val63Leu Single submitter Inborn genetic diseases ⚠
c.1053+5G>A No assertion criteria centronuclear myopathy
c.678+10G>C No assertion criteria X-linked myotubular myopathy
c.678+8C>T No assertion criteria X-linked myotubular myopathy
p.Asn481Ser No assertion criteria X-linked myotubular myopathy ⚠
p.Asp468Gly No assertion criteria X-linked myotubular myopathy ⚠
p.Cys191Ser No assertion criteria X-linked myotubular myopathy ⚠
p.Gln408= No assertion criteria X-linked myotubular myopathy
p.Leu154Phe No assertion criteria X-linked myotubular myopathy ⚠
p.Leu338Ser No assertion criteria X-linked myotubular myopathy ⚠
p.Lys259= No assertion criteria X-linked myotubular myopathy
p.Lys409Glu No assertion criteria X-linked myotubular myopathy ⚠
p.Met392Val No assertion criteria X-linked myotubular myopathy ⚠
p.Met558Val No assertion criteria X-linked myotubular myopathy ⚠
p.Phe159Leu No assertion criteria X-linked myotubular myopathy ⚠
p.Ser13= No assertion criteria X-linked myotubular myopathy
p.Ser500= No assertion criteria X-linked myotubular myopathy
p.Thr100Ala No assertion criteria X-linked myotubular myopathy ⚠
p.Thr382Ile No assertion criteria MTM1-related disorder ⚠