MUSK — 864 ClinVar variants

All ClinVar germline MUSK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 309 flagged for review →

35 Pathogenic · 4 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 45 Conflicting · 58 Benign · 21 Benign/Likely benign · 352 Likely benign · 317 Uncertain significance

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

⚑ Evidence disagreements 309

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 19

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

MUSK p.Ala342Val Conflicting Single submitter
Inborn genetic diseases
MUSK p.Ala621Val Conflicting Single submitter
fetal akinesia deformation sequence 1
MUSK p.Ala700Thr Conflicting Single submitter
congenital myasthenic syndrome 9
MUSK p.Ala763Thr Conflicting Single submitter
congenital myasthenic syndrome 9
MUSK p.Arg162Ser Conflicting Single submitter
fetal akinesia deformation sequence 1
MUSK p.Asn222Ser Conflicting Single submitter
fetal akinesia deformation sequence 1
MUSK p.Glu415Asp Conflicting Single submitter
Inborn genetic diseases
MUSK p.Gly582Arg Conflicting Single submitter
fetal akinesia deformation sequence 1
MUSK p.Gly789Ser Conflicting Single submitter
fetal akinesia deformation sequence 1
MUSK p.His353Asn Conflicting Single submitter
Inborn genetic diseases
MUSK p.Ile133Val Conflicting Single submitter
Inborn genetic diseases
MUSK p.Leu821Phe Conflicting Single submitter
fetal akinesia deformation sequence 1
MUSK p.Met426Thr Conflicting Single submitter
congenital myasthenic syndrome 9
MUSK p.Met651Leu Conflicting Single submitter
congenital myasthenic syndrome 9
MUSK p.Tyr803Cys Conflicting Single submitter
congenital myasthenic syndrome 9
MUSK p.Val431Met Conflicting Single submitter
congenital myasthenic syndrome 9
MUSK p.Val508Met Conflicting Single submitter
congenital myasthenic syndrome 9
MUSK p.Val644Ala Conflicting Single submitter
fetal akinesia deformation sequence 1
MUSK p.Val790Met Conflicting Single submitter
congenital myasthenic syndrome 9

Predictors lean, ClinVar uncertain 190

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 190

MUSK p.Ala318Thr Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Ala327Thr Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Ala355Thr Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Arg264Gln Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Arg367Gln Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Arg519Gln Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Arg593Thr Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Arg668Cys Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Arg668His Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Arg719His Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Arg724Gln Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Arg74Trp Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Arg767His Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Arg78Gln Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Arg854Gln Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Asp454Asn Uncertain significance Multiple submitters
MUSK-related disorder
MUSK p.Cys190Arg Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Cys233Arg Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Cys447Arg Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Gln310Pro Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Glu346Asp Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Glu3Lys Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Glu425Lys Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Glu614Ala Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Gly186Ala Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Gly648Arg Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Gly693Arg Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Ile506Val Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Ile581Asn Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Ile638Leu Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Ile741Thr Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Leu15Met Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Leu40Ser Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Leu642Ser Uncertain significance Multiple submitters
MUSK-related disorder
MUSK p.Leu697His Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Lys156Asn Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Lys528Thr Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Met145Val Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Met426Lys Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Met553Val Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Met605Val Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Phe225Tyr Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Pro121Ser Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Pro121Thr Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Pro241Ser Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Pro571Thr Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Pro802His Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Ser383Ile Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Ser88Asn Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Thr234Ile Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Thr300Asn Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Thr538Arg Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Trp410Cys Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Tyr455Asp Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Tyr600Asn Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Tyr657His Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Val180Ile Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Val387Leu Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Val412Ala Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Val496Leu Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Val675Met Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Val829Met Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Ala168Val Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Ala17Val Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Ala199Val Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Ala217Thr Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Ala330Gly Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Ala333Val Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Ala342Thr Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Ala372Thr Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Ala407Val Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Ala45Pro Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Ala585Val Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Ala628Thr Uncertain significance Single submitter
MUSK p.Ala710Pro Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Ala714Pro Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Ala753Thr Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Arg162Gly Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Arg216Gln Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Arg264Gly Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Arg367Gly Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Arg367Pro Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Arg395Ile Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Arg588Thr Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Arg625Lys Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Arg719Cys Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Arg767Cys Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Arg778Cys Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Arg862Gly Uncertain significance Single submitter
MUSK p.Asn179Tyr Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Asn222Ile Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Asn562Lys Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Asn6Ser Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Asn80Ser Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Asp474Asn Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Asp618Asn Uncertain significance Single submitter
MUSK p.Asp622Val Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Asp784Asn Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Asp784Glu Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Cys406Ser Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Cys860Phe Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Cys99Phe Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Gln116His Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Gln187Arg Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Glu134Gln Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Glu259Lys Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Glu346Gln Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Glu43Asp Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Glu458Lys Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Glu569Val Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Glu656Gln Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Glu772Lys Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Glu861Lys Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Gly186Glu Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Gly197Arg Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Gly20Arg Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Gly249Arg Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Gly322Arg Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Gly584Glu Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Gly81Ala Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.His441Tyr Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Ile266Thr Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Ile283Thr Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Ile283Val Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Ile512Val Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Ile638Thr Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Ile750Asn Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Leu206Gln Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Leu231Pro Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Leu373Phe Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Leu4Pro Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Leu515Val Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Leu536Val Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Leu565Val Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Leu663Ile Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Leu821Pro Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Leu834Arg Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Leu834Pro Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Leu87Val Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Lys291Arg Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Lys436Asn Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Met48Val Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Phe586Cys Uncertain significance Single submitter
MUSK p.Phe633Ser Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Pro160Leu Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Pro28Leu Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Pro465Ser Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Pro602Ser Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Pro847Thr Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Ser201Pro Uncertain significance Single submitter

Predictors split 100

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

MUSK p.Ala212Val Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Ala585Pro Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Arg125Cys Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Arg588Lys Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Arg778His Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Arg816Gln Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Arg836His Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Arg858Cys Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Asn286Ser Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Asn338Lys Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Asn376Lys Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Asn664Ser Benign/Likely benign Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Asn736Lys Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Asp38Glu Likely pathogenic Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Glu782Asp Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Glu810Asp Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Ile77Thr Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Lys156Met Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Lys720Glu Likely pathogenic Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Met413Ile Benign Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Pro558Arg Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Pro558Leu Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Pro672Ser Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Ser227Tyr Uncertain significance Multiple submitters
fetal akinesia deformation sequence 1
MUSK p.Ser616Leu Uncertain significance Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Trp306Gly Uncertain significance Multiple submitters
Inborn genetic diseases
MUSK p.Tyr397His Benign Multiple submitters
congenital myasthenic syndrome 9
MUSK p.Ala235Thr Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Ala372Asp Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Ala448Asp Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Arg216Gly Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Arg216Leu Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Arg216Trp Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Arg419Ser Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Arg625Ser Uncertain significance Single submitter
MUSK p.Arg748Lys Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Arg816Leu Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Arg836Cys Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Asn103Ser Conflicting Single submitter
fetal akinesia deformation sequence 1
MUSK p.Asn147Lys Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Asp263Ala Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Asp38Tyr Likely pathogenic Single submitter
fetal akinesia deformation sequence 1
MUSK p.Asp546Tyr Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Asp618Gly Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Asp754Glu Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Asp845Gly Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Cys838Ser Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Glu247Asp Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Glu259Gly Likely benign Single submitter
fetal akinesia deformation sequence 1
MUSK p.Glu583Ala Uncertain significance Single submitter
MUSK p.Glu735Lys Conflicting Single submitter
congenital myasthenic syndrome 9
MUSK p.Gly237Ala Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Gly278Val Uncertain significance Single submitter
MUSK p.Gly322Ala Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Gly420Glu Likely benign Single submitter
fetal akinesia deformation sequence 1
MUSK p.Gly734Ser Conflicting Single submitter
congenital myasthenic syndrome 9
MUSK p.His808Arg Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Ile497Lys Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Ile764Thr Conflicting Single submitter
fetal akinesia deformation sequence 1
MUSK p.Ile7Thr Uncertain significance Single submitter
MUSK p.Leu140Val Uncertain significance Single submitter
MUSK p.Leu161Phe Conflicting Single submitter
fetal akinesia deformation sequence 1
MUSK p.Leu170His Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Leu351Pro Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Leu428Trp Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Leu545Pro Likely pathogenic Single submitter
congenital myasthenic syndrome 9
MUSK p.Lys120Asn Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Lys182Asn Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Lys69Asn Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Lys757Gln Uncertain significance Single submitter
MUSK p.Met119Ile Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Met413Thr Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Met605Ile Conflicting Single submitter
fetal akinesia deformation sequence 1
MUSK p.Met619Thr Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Phe292Cys Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Phe292Leu Uncertain significance Single submitter
MUSK p.Phe463Leu Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Phe603Leu Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Phe775Ser Uncertain significance Single submitter
MUSK p.Phe796Leu Uncertain significance Single submitter
MUSK p.Pro344Arg Likely pathogenic Single submitter
congenital myasthenic syndrome 9
MUSK p.Pro392His Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Pro595Arg Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Pro636Thr Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Ser165Phe Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Ser19Arg Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Ser201Ala Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Ser260Cys Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Ser481Cys Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Ser482Cys Uncertain significance Single submitter
MUSK p.Ser773Thr Uncertain significance Single submitter
Inborn genetic diseases
MUSK p.Ser840Arg Uncertain significance Single submitter
MUSK p.Thr417Ile Conflicting Single submitter
congenital myasthenic syndrome 9
MUSK p.Trp306Arg Conflicting Single submitter
congenital myasthenic syndrome 9
MUSK p.Trp442Arg Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Tyr316His Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Tyr804Cys Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Val709Met Uncertain significance Single submitter
fetal akinesia deformation sequence 1
MUSK p.Val815Met Uncertain significance Single submitter
congenital myasthenic syndrome 9
MUSK p.Gln348Pro Likely pathogenic No assertion criteria
congenital myasthenic syndrome 9

All MUSK variants

Pathogenic 35

c.79+2T>G Multiple submitters congenital myasthenic syndrome 9
p.Arg264Ter Multiple submitters fetal akinesia deformation sequence 1
p.Met1Thr Multiple submitters congenital myasthenic syndrome 9
p.Arg166Ter Single submitter congenital myasthenic syndrome 9
p.Arg519Ter Single submitter fetal akinesia deformation sequence 1
p.Arg579Ter Single submitter fetal akinesia deformation sequence 1
p.Arg724Ter Single submitter congenital myasthenic syndrome 9
p.Asn194fs Single submitter congenital myasthenic syndrome 9
p.Cys406Ter Single submitter fetal akinesia deformation sequence 1
p.Cys434fs Single submitter fetal akinesia deformation sequence 1
p.Cys731fs Single submitter fetal akinesia deformation sequence 1
p.Gln56fs Single submitter fetal akinesia deformation sequence 1
p.Gln708Ter Single submitter fetal akinesia deformation sequence 1
p.Glu183fs Single submitter congenital myasthenic syndrome 9
p.Glu290fs Single submitter fetal akinesia deformation sequence 1
p.Glu323Ter Single submitter fetal akinesia deformation sequence 1
p.Glu542fs Single submitter fetal akinesia deformation sequence 1
p.Glu614fs Single submitter congenital myasthenic syndrome 9
p.His11fs Single submitter fetal akinesia deformation sequence 1
p.Ile283fs Single submitter fetal akinesia deformation sequence 1
p.Leu544fs Single submitter fetal akinesia deformation sequence 1
p.Lys609fs Single submitter congenital myasthenic syndrome 9
p.Met670fs Single submitter fetal akinesia deformation sequence 1
p.Pro28fs Single submitter fetal akinesia deformation sequence 1
p.Ser302fs Single submitter congenital myasthenic syndrome 9
p.Ser489Ter Single submitter congenital myasthenic syndrome 9
p.Ser531Ter Single submitter fetal akinesia deformation sequence 1
p.Thr462fs Single submitter fetal akinesia deformation sequence 1
p.Trp154Ter Single submitter fetal akinesia deformation sequence 1
p.Trp786Ter Single submitter congenital myasthenic syndrome 9
p.Tyr756Ter Single submitter congenital myasthenic syndrome 9
p.Val675fs Single submitter fetal akinesia deformation sequence 1
p.Val722Ala Single submitter fetal akinesia deformation sequence 1
p.Arg74fs No assertion criteria congenital myasthenic syndrome 9
p.Thr14fs No assertion criteria fetal akinesia deformation sequence 1

Pathogenic/Likely pathogenic 4

p.Arg816Ter Multiple submitters fetal akinesia deformation sequence 1
p.His680fs Multiple submitters Fetal anomalies with a likely genetic cause
p.Ile575Thr Multiple submitters congenital myasthenic syndrome 9
p.Pro364fs Multiple submitters congenital myasthenic syndrome 9

Likely pathogenic 32

c.1586+1G>A Multiple submitters congenital myasthenic syndrome 9
p.Ala304fs Multiple submitters fetal akinesia deformation sequence 1
p.Asp38Glu Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Lys720Glu Multiple submitters congenital myasthenic syndrome 9 ⚠
c.1184+2T>C Single submitter fetal akinesia deformation sequence 1
c.1185-1G>A Single submitter congenital myasthenic syndrome 9
c.1185-2A>G Single submitter fetal akinesia deformation sequence 1
c.1360+1G>A Single submitter fetal akinesia deformation sequence 1
c.1778+1G>T Single submitter congenital myasthenic syndrome 9
c.206+2T>C Single submitter fetal akinesia deformation sequence 1
c.207-1G>A Single submitter congenital myasthenic syndrome 9
c.358+2T>C Single submitter congenital myasthenic syndrome 9
c.486+1G>C Single submitter fetal akinesia deformation sequence 1
c.754-1G>T Single submitter fetal akinesia deformation sequence 1
c.754-2A>G Single submitter fetal akinesia deformation sequence 1
c.913+2T>C Single submitter congenital myasthenic syndrome 9
c.920+1G>A Single submitter fetal akinesia deformation sequence 1
p.Ala727Val Single submitter congenital myasthenic syndrome 9
p.Arg264fs Single submitter congenital myasthenic syndrome 9
p.Asp38Tyr Single submitter fetal akinesia deformation sequence 1 ⚠
p.Cys731Ter Single submitter Autosomal recessive MUSK-related disorders
p.Gln181Ter Single submitter congenital myasthenic syndrome 9
p.Glu425fs Single submitter MUSK-related disorder
p.Glu794Asp Single submitter congenital myasthenic syndrome 9
p.Glu90Ter Single submitter
p.Leu24fs Single submitter congenital myasthenic syndrome 9
p.Leu545Pro Single submitter congenital myasthenic syndrome 9 ⚠
p.Lys720Ter Single submitter congenital myasthenic syndrome 9
p.Pro344Arg Single submitter congenital myasthenic syndrome 9 ⚠
p.Ser679fs Single submitter congenital myasthenic syndrome 9
p.Ala787Val No assertion criteria congenital myasthenic syndrome 9
p.Gln348Pro No assertion criteria congenital myasthenic syndrome 9 ⚠

Conflicting classifications of pathogenicity 45

c.1185-24T>A Single submitter fetal akinesia deformation sequence 1
c.1779-7C>T Single submitter fetal akinesia deformation sequence 1
c.206+10C>T Single submitter congenital myasthenic syndrome 9
c.486+15T>C Single submitter congenital myasthenic syndrome 9
c.79+11G>A Single submitter fetal akinesia deformation sequence 1
c.913+10C>G Single submitter congenital myasthenic syndrome 9
c.914-14T>G Single submitter congenital myasthenic syndrome 9
p.Ala342= Single submitter congenital myasthenic syndrome 9
p.Ala342Val Single submitter Inborn genetic diseases ⚠
p.Ala621= Single submitter congenital myasthenic syndrome 9
p.Ala621Val Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala700Thr Single submitter congenital myasthenic syndrome 9 ⚠
p.Ala763Thr Single submitter congenital myasthenic syndrome 9 ⚠
p.Arg125Leu Single submitter fetal akinesia deformation sequence 1
p.Arg162Ser Single submitter fetal akinesia deformation sequence 1 ⚠
p.Asn103Ser Single submitter fetal akinesia deformation sequence 1 ⚠
p.Asn222= Single submitter congenital myasthenic syndrome 9
p.Asn222Ser Single submitter fetal akinesia deformation sequence 1 ⚠
p.Asn573= Single submitter congenital myasthenic syndrome 9
p.Glu183= Single submitter congenital myasthenic syndrome 9
p.Glu415Asp Single submitter Inborn genetic diseases ⚠
p.Glu735Lys Single submitter congenital myasthenic syndrome 9 ⚠
p.Gly582Arg Single submitter fetal akinesia deformation sequence 1 ⚠
p.Gly734Ser Single submitter congenital myasthenic syndrome 9 ⚠
p.Gly789Ser Single submitter fetal akinesia deformation sequence 1 ⚠
p.His353Asn Single submitter Inborn genetic diseases ⚠
p.Ile133Val Single submitter Inborn genetic diseases ⚠
p.Ile764Thr Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu161Phe Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu561= Single submitter fetal akinesia deformation sequence 1
p.Leu821Phe Single submitter fetal akinesia deformation sequence 1 ⚠
p.Met426Thr Single submitter congenital myasthenic syndrome 9 ⚠
p.Met605Ile Single submitter fetal akinesia deformation sequence 1 ⚠
p.Met651Leu Single submitter congenital myasthenic syndrome 9 ⚠
p.Ser260= Single submitter congenital myasthenic syndrome 9
p.Thr417Ile Single submitter congenital myasthenic syndrome 9 ⚠
p.Trp306Arg Single submitter congenital myasthenic syndrome 9 ⚠
p.Tyr798Cys Single submitter fetal akinesia deformation sequence 1
p.Tyr803Cys Single submitter congenital myasthenic syndrome 9 ⚠
p.Val431Met Single submitter congenital myasthenic syndrome 9 ⚠
p.Val508Met Single submitter congenital myasthenic syndrome 9 ⚠
p.Val644Ala Single submitter fetal akinesia deformation sequence 1 ⚠
p.Val647= Single submitter congenital myasthenic syndrome 9
p.Val790Met Single submitter congenital myasthenic syndrome 9 ⚠
p.Val815Leu Single submitter congenital myasthenic syndrome 9

Benign 58

c.1360+48A>G Multiple submitters
c.1385-94A>C Multiple submitters
c.1586+26T>C Multiple submitters congenital myasthenic syndrome 9
c.1778+115T>C Multiple submitters
c.1779-213T>C Multiple submitters
c.1927+50T>C Multiple submitters
c.207-126G>C Multiple submitters
c.207-20T>C Multiple submitters congenital myasthenic syndrome 9
c.628+22C>G Multiple submitters
c.629-5606G>A Multiple submitters
c.629-5755C>T Multiple submitters
c.629-98A>C Multiple submitters
c.920+25del Multiple submitters congenital myasthenic syndrome 9
c.921-112A>G Multiple submitters
c.-82T>C Multiple submitters congenital myasthenic syndrome 9
c.*153G>A Multiple submitters
p.Asn179= Multiple submitters fetal akinesia deformation sequence 1
p.Glu134= Multiple submitters fetal akinesia deformation sequence 1
p.Met413Ile Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Ser159Gly Multiple submitters fetal akinesia deformation sequence 1
p.Tyr397His Multiple submitters congenital myasthenic syndrome 9 ⚠
c.1360+116del Single submitter
c.1384+250T>A Single submitter
c.1384+275G>T Single submitter
c.1385-225A>G Single submitter
c.1385-300A>G Single submitter
c.1586+180G>A Single submitter
c.1778+114AT[7] Single submitter
c.1778+171TA[5] Single submitter
c.1778+25del Single submitter congenital myasthenic syndrome 9
c.1779-308dup Single submitter
c.1779-309_1779-308del Single submitter
c.1779-309_1779-308dup Single submitter
c.1779-318_1779-308del Single submitter
c.1927+272del Single submitter
c.206+178A>T Single submitter
c.206+291del Single submitter
c.206+293C>T Single submitter
c.207-319G>A Single submitter
c.207-5T>C Single submitter congenital myasthenic syndrome 9
c.359-335G>A Single submitter
c.486+22del Single submitter congenital myasthenic syndrome 9
c.486+232G>A Single submitter
c.486+67_486+70del Single submitter
c.487-133T>C Single submitter
c.487-236G>A Single submitter
c.629-5522dup Single submitter
c.754-143C>T Single submitter
c.754-315A>C Single submitter
c.80-260A>G Single submitter
c.80-282_80-281insCTCA Single submitter
c.914-371T>C Single submitter
c.914-596C>T Single submitter
c.914-604C>T Single submitter
c.-414C>G Single submitter
p.Ala844= Single submitter congenital myasthenic syndrome 9
p.Asn761= Single submitter fetal akinesia deformation sequence 1
p.Val867Leu Single submitter congenital myasthenic syndrome 9

Benign/Likely benign 21

c.1361-12T>C Multiple submitters fetal akinesia deformation sequence 1
c.1927+9dup Multiple submitters congenital myasthenic syndrome 9
c.206+28A>T Multiple submitters
c.358+20G>A Multiple submitters fetal akinesia deformation sequence 1
c.486+7G>C Multiple submitters congenital myasthenic syndrome 9
c.629-5559A>C Multiple submitters
c.80-8C>T Multiple submitters congenital myasthenic syndrome 9
p.Arg858His Multiple submitters congenital myasthenic syndrome 9
p.Asn664Ser Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Asn777= Multiple submitters congenital myasthenic syndrome 9
p.Asp762= Multiple submitters congenital myasthenic syndrome 9
p.Gly104= Multiple submitters congenital myasthenic syndrome 9
p.Gly107Glu Multiple submitters congenital myasthenic syndrome 9
p.Gly734= Multiple submitters fetal akinesia deformation sequence 1
p.Ile133Thr Multiple submitters congenital myasthenic syndrome 9
p.Ile167Thr Multiple submitters congenital myasthenic syndrome 9
p.Pro695= Multiple submitters fetal akinesia deformation sequence 1
p.Thr100Met Multiple submitters fetal akinesia deformation sequence 1
p.Thr354= Multiple submitters congenital myasthenic syndrome 9
p.Tyr75= Multiple submitters fetal akinesia deformation sequence 1
p.Val829Leu Multiple submitters fetal akinesia deformation sequence 1

Likely benign 352

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

c.1385-70A>G Multiple submitters
c.1385-84A>C Multiple submitters
c.1385-90T>C Multiple submitters
c.1778+13A>G Multiple submitters congenital myasthenic syndrome 9
c.1778+25dup Multiple submitters fetal akinesia deformation sequence 1
c.1928-4C>A Multiple submitters congenital myasthenic syndrome 9
c.207-16T>C Multiple submitters congenital myasthenic syndrome 9
c.358+120G>A Multiple submitters
c.486+102A>G Multiple submitters
c.629-5501T>G Multiple submitters
c.913+310C>T Multiple submitters
p.Arg419= Multiple submitters congenital myasthenic syndrome 9
p.Gly648= Multiple submitters congenital myasthenic syndrome 9
p.His441= Multiple submitters congenital myasthenic syndrome 9
p.Ile581= Multiple submitters congenital myasthenic syndrome 9
p.Leu565= Multiple submitters fetal akinesia deformation sequence 1
p.Pro558= Multiple submitters congenital myasthenic syndrome 9
p.Ser151= Multiple submitters fetal akinesia deformation sequence 1
c.1184+10C>G Single submitter congenital myasthenic syndrome 9
c.1184+13A>G Single submitter congenital myasthenic syndrome 9
c.1184+15A>C Single submitter congenital myasthenic syndrome 9
c.1184+20T>C Single submitter congenital myasthenic syndrome 9
c.1185-12A>G Single submitter fetal akinesia deformation sequence 1
c.1185-14del Single submitter fetal akinesia deformation sequence 1
c.1185-15C>T Single submitter fetal akinesia deformation sequence 1
c.1185-17T>A Single submitter congenital myasthenic syndrome 9
c.1185-19T>A Single submitter fetal akinesia deformation sequence 1
c.1185-19T>C Single submitter fetal akinesia deformation sequence 1
c.1185-7A>G Single submitter fetal akinesia deformation sequence 1
c.1185-8T>G Single submitter fetal akinesia deformation sequence 1
c.1185-9C>T Single submitter fetal akinesia deformation sequence 1
c.1360+11G>C Single submitter congenital myasthenic syndrome 9
c.1360+13T>C Single submitter congenital myasthenic syndrome 9
c.1360+14C>T Single submitter congenital myasthenic syndrome 9
c.1360+18C>T Single submitter fetal akinesia deformation sequence 1
c.1360+20A>G Single submitter congenital myasthenic syndrome 9
c.1360+6dup Single submitter congenital myasthenic syndrome 9
c.1360+7_1360+8del Single submitter fetal akinesia deformation sequence 1
c.1360+7C>G Single submitter fetal akinesia deformation sequence 1
c.1361-13C>A Single submitter fetal akinesia deformation sequence 1
c.1361-7C>T Single submitter congenital myasthenic syndrome 9
c.1384+12T>C Single submitter fetal akinesia deformation sequence 1
c.1384+14T>C Single submitter congenital myasthenic syndrome 9
c.1384+20C>G Single submitter fetal akinesia deformation sequence 1
c.1384+20C>T Single submitter congenital myasthenic syndrome 9
c.1384+9T>C Single submitter congenital myasthenic syndrome 9
c.1385-12C>A Single submitter fetal akinesia deformation sequence 1
c.1586+12G>A Single submitter fetal akinesia deformation sequence 1
c.1586+15dup Single submitter fetal akinesia deformation sequence 1
c.1586+16C>T Single submitter congenital myasthenic syndrome 9
c.1586+17A>T Single submitter fetal akinesia deformation sequence 1
c.1586+7T>C Single submitter fetal akinesia deformation sequence 1
c.1586+8T>C Single submitter congenital myasthenic syndrome 9
c.1586+99T>C Single submitter
c.1586+9C>A Single submitter congenital myasthenic syndrome 9
c.1587-14T>C Single submitter fetal akinesia deformation sequence 1
c.1587-16C>T Single submitter fetal akinesia deformation sequence 1
c.1587-5T>G Single submitter fetal akinesia deformation sequence 1
c.1587-8G>C Single submitter congenital myasthenic syndrome 9
c.1778+114AT[9] Single submitter
c.1778+12T>C Single submitter fetal akinesia deformation sequence 1
c.1778+17A>G Single submitter fetal akinesia deformation sequence 1
c.1778+18A>G Single submitter fetal akinesia deformation sequence 1
c.1778+19A>C Single submitter fetal akinesia deformation sequence 1
c.1778+20A>G Single submitter fetal akinesia deformation sequence 1
c.1778+7T>C Single submitter fetal akinesia deformation sequence 1
c.1779-14A>T Single submitter congenital myasthenic syndrome 9
c.1779-16T>C Single submitter fetal akinesia deformation sequence 1
c.1779-20T>C Single submitter congenital myasthenic syndrome 9
c.1927+12C>A Single submitter fetal akinesia deformation sequence 1
c.1927+134T>C Single submitter
c.1927+17G>C Single submitter fetal akinesia deformation sequence 1
c.1927+19G>A Single submitter fetal akinesia deformation sequence 1
c.1927+8A>C Single submitter fetal akinesia deformation sequence 1
c.1928-13C>A Single submitter congenital myasthenic syndrome 9
c.1928-14T>C Single submitter fetal akinesia deformation sequence 1
c.1928-14T>G Single submitter fetal akinesia deformation sequence 1
c.1928-20G>T Single submitter fetal akinesia deformation sequence 1
c.1928-267C>A Single submitter
c.1928-4C>T Single submitter congenital myasthenic syndrome 9
c.1928-8G>C Single submitter congenital myasthenic syndrome 9
c.206+12A>T Single submitter fetal akinesia deformation sequence 1
c.206+19_206+23del Single submitter fetal akinesia deformation sequence 1
c.206+20A>T Single submitter fetal akinesia deformation sequence 1
c.206+61A>G Single submitter
c.206+9T>C Single submitter fetal akinesia deformation sequence 1
c.207-11G>A Single submitter congenital myasthenic syndrome 9
c.207-11G>C Single submitter fetal akinesia deformation sequence 1
c.207-15T>C Single submitter fetal akinesia deformation sequence 1
c.358+132T>C Single submitter
c.358+17T>C Single submitter congenital myasthenic syndrome 9
c.358+18T>C Single submitter fetal akinesia deformation sequence 1
c.358+190C>A Single submitter
c.358+19C>A Single submitter fetal akinesia deformation sequence 1
c.358+19C>T Single submitter fetal akinesia deformation sequence 1
c.358+20G>C Single submitter congenital myasthenic syndrome 9
c.358+213C>T Single submitter
c.358+9G>A Single submitter fetal akinesia deformation sequence 1
c.359-16T>G Single submitter fetal akinesia deformation sequence 1
c.359-19A>G Single submitter fetal akinesia deformation sequence 1
c.359-7T>A Single submitter congenital myasthenic syndrome 9
c.486+12T>A Single submitter congenital myasthenic syndrome 9
c.486+13G>C Single submitter fetal akinesia deformation sequence 1
c.486+16G>A Single submitter fetal akinesia deformation sequence 1
c.487-17G>A Single submitter congenital myasthenic syndrome 9
c.487-18C>T Single submitter congenital myasthenic syndrome 9
c.487-9C>T Single submitter fetal akinesia deformation sequence 1
c.628+11G>A Single submitter congenital myasthenic syndrome 9
c.629-10T>C Single submitter fetal akinesia deformation sequence 1
c.629-16del Single submitter fetal akinesia deformation sequence 1
c.629-18C>T Single submitter congenital myasthenic syndrome 9
c.629-6T>C Single submitter fetal akinesia deformation sequence 1
c.629-7C>T Single submitter congenital myasthenic syndrome 9
c.753+11T>C Single submitter fetal akinesia deformation sequence 1
c.753+15T>C Single submitter congenital myasthenic syndrome 9
c.753+20G>A Single submitter congenital myasthenic syndrome 9
c.753+7G>C Single submitter fetal akinesia deformation sequence 1
c.753+8T>C Single submitter fetal akinesia deformation sequence 1
c.754-190A>T Single submitter
c.754-4T>C Single submitter fetal akinesia deformation sequence 1
c.754-5G>C Single submitter fetal akinesia deformation sequence 1
c.754-6T>G Single submitter fetal akinesia deformation sequence 1
c.754-8T>G Single submitter congenital myasthenic syndrome 9
c.754-9C>T Single submitter congenital myasthenic syndrome 9
c.79+14A>G Single submitter fetal akinesia deformation sequence 1
c.79+15T>C Single submitter congenital myasthenic syndrome 9
c.79+16C>T Single submitter fetal akinesia deformation sequence 1
c.79+17G>A Single submitter congenital myasthenic syndrome 9
c.79+20T>C Single submitter congenital myasthenic syndrome 9
c.79+7T>C Single submitter fetal akinesia deformation sequence 1
c.80-15C>A Single submitter fetal akinesia deformation sequence 1
c.80-19A>T Single submitter congenital myasthenic syndrome 9
c.80-7_80-3del Single submitter fetal akinesia deformation sequence 1
c.80-7C>A Single submitter fetal akinesia deformation sequence 1
c.80-9T>C Single submitter fetal akinesia deformation sequence 1
c.913+10C>T Single submitter fetal akinesia deformation sequence 1
c.913+11C>T Single submitter fetal akinesia deformation sequence 1
c.913+13T>C Single submitter fetal akinesia deformation sequence 1
c.913+9C>T Single submitter fetal akinesia deformation sequence 1
c.914-10C>A Single submitter congenital myasthenic syndrome 9
c.914-15C>G Single submitter fetal akinesia deformation sequence 1
c.914-19C>T Single submitter congenital myasthenic syndrome 9
c.914-348G>A Single submitter
c.914-4del Single submitter fetal akinesia deformation sequence 1
c.914-5A>G Single submitter fetal akinesia deformation sequence 1
c.920+10T>C Single submitter congenital myasthenic syndrome 9
c.920+11_920+12del Single submitter fetal akinesia deformation sequence 1
c.920+11G>A Single submitter fetal akinesia deformation sequence 1
c.920+142C>A Single submitter
c.920+20del Single submitter fetal akinesia deformation sequence 1
c.920+9C>T Single submitter fetal akinesia deformation sequence 1
c.921-10C>A Single submitter congenital myasthenic syndrome 9
c.921-12T>A Single submitter fetal akinesia deformation sequence 1
c.921-18_921-16del Single submitter fetal akinesia deformation sequence 1
c.921-18G>A Single submitter congenital myasthenic syndrome 9
c.921-286T>A Single submitter
c.921-7C>T Single submitter fetal akinesia deformation sequence 1
p.Ala101= Single submitter fetal akinesia deformation sequence 1
p.Ala114= Single submitter congenital myasthenic syndrome 9
p.Ala199= Single submitter fetal akinesia deformation sequence 1
p.Ala295= Single submitter fetal akinesia deformation sequence 1
p.Ala318= Single submitter fetal akinesia deformation sequence 1
p.Ala330= Single submitter fetal akinesia deformation sequence 1
p.Ala355= Single submitter congenital myasthenic syndrome 9
p.Ala39= Single submitter fetal akinesia deformation sequence 1
p.Ala533= Single submitter congenital myasthenic syndrome 9
p.Ala585= Single submitter fetal akinesia deformation sequence 1
p.Ala628= Single submitter
p.Ala687= Single submitter
p.Ala742= Single submitter fetal akinesia deformation sequence 1
p.Ala758= Single submitter fetal akinesia deformation sequence 1
p.Ala763= Single submitter fetal akinesia deformation sequence 1
p.Arg125= Single submitter fetal akinesia deformation sequence 1
p.Arg162= Single submitter fetal akinesia deformation sequence 1
p.Arg166= Single submitter fetal akinesia deformation sequence 1
p.Arg216= Single submitter congenital myasthenic syndrome 9
p.Arg264= Single submitter fetal akinesia deformation sequence 1
p.Arg269= Single submitter congenital myasthenic syndrome 9
p.Arg572= Single submitter congenital myasthenic syndrome 9
p.Arg686= Single submitter congenital myasthenic syndrome 9
p.Arg74= Single submitter fetal akinesia deformation sequence 1
p.Arg78= Single submitter fetal akinesia deformation sequence 1
p.Asn103= Single submitter fetal akinesia deformation sequence 1
p.Asn248= Single submitter fetal akinesia deformation sequence 1
p.Asn286= Single submitter fetal akinesia deformation sequence 1
p.Asn326= Single submitter congenital myasthenic syndrome 9
p.Asn459= Single submitter congenital myasthenic syndrome 9
p.Asn574= Single submitter fetal akinesia deformation sequence 1
p.Asn736= Single submitter congenital myasthenic syndrome 9
p.Asn749= Single submitter congenital myasthenic syndrome 9
p.Asn759= Single submitter fetal akinesia deformation sequence 1
p.Asn80= Single submitter fetal akinesia deformation sequence 1
p.Asn819= Single submitter fetal akinesia deformation sequence 1
p.Asp158_Ser159delinsGluArg Single submitter fetal akinesia deformation sequence 1
p.Asp267= Single submitter congenital myasthenic syndrome 9
p.Asp443= Single submitter fetal akinesia deformation sequence 1
p.Asp474= Single submitter congenital myasthenic syndrome 9
p.Asp546= Single submitter fetal akinesia deformation sequence 1
p.Asp817= Single submitter congenital myasthenic syndrome 9
p.Asp94= Single submitter congenital myasthenic syndrome 9
p.Cys190= Single submitter fetal akinesia deformation sequence 1
p.Cys233= Single submitter congenital myasthenic syndrome 9
p.Cys282= Single submitter congenital myasthenic syndrome 9
p.Cys317= Single submitter fetal akinesia deformation sequence 1
p.Cys366= Single submitter fetal akinesia deformation sequence 1
p.Cys382= Single submitter congenital myasthenic syndrome 9
p.Cys406= Single submitter fetal akinesia deformation sequence 1
p.Cys49= Single submitter fetal akinesia deformation sequence 1
p.Cys704= Single submitter fetal akinesia deformation sequence 1
p.Cys704Tyr Single submitter congenital myasthenic syndrome 9
p.Cys827= Single submitter fetal akinesia deformation sequence 1
p.Gln348= Single submitter fetal akinesia deformation sequence 1
p.Gln801= Single submitter fetal akinesia deformation sequence 1
p.Glu171= Single submitter fetal akinesia deformation sequence 1
p.Glu259Gly Single submitter fetal akinesia deformation sequence 1 ⚠
p.Glu349= Single submitter congenital myasthenic syndrome 9
p.Glu569= Single submitter congenital myasthenic syndrome 9
p.Glu58= Single submitter fetal akinesia deformation sequence 1
p.Glu583= Single submitter fetal akinesia deformation sequence 1
p.Glu613= Single submitter congenital myasthenic syndrome 9
p.Glu701= Single submitter fetal akinesia deformation sequence 1
p.Glu772= Single submitter congenital myasthenic syndrome 9
p.Glu794= Single submitter fetal akinesia deformation sequence 1
p.Gly157= Single submitter fetal akinesia deformation sequence 1
p.Gly255= Single submitter fetal akinesia deformation sequence 1
p.Gly420Glu Single submitter fetal akinesia deformation sequence 1 ⚠
p.Gly596= Single submitter fetal akinesia deformation sequence 1
p.Gly693= Single submitter fetal akinesia deformation sequence 1
p.Gly712= Single submitter congenital myasthenic syndrome 9
p.Gly789= Single submitter congenital myasthenic syndrome 9
p.Gly799= Single submitter fetal akinesia deformation sequence 1
p.Gly81= Single submitter fetal akinesia deformation sequence 1
p.His11= Single submitter fetal akinesia deformation sequence 1
p.His288= Single submitter fetal akinesia deformation sequence 1
p.His377= Single submitter fetal akinesia deformation sequence 1
p.His673= Single submitter congenital myasthenic syndrome 9
p.Ile246= Single submitter fetal akinesia deformation sequence 1
p.Ile30= Single submitter fetal akinesia deformation sequence 1
p.Ile498= Single submitter congenital myasthenic syndrome 9
p.Ile66= Single submitter fetal akinesia deformation sequence 1
p.Ile764= Single submitter fetal akinesia deformation sequence 1
p.Leu196= Single submitter fetal akinesia deformation sequence 1
p.Leu329= Single submitter congenital myasthenic syndrome 9
p.Leu399= Single submitter fetal akinesia deformation sequence 1
p.Leu4= Single submitter congenital myasthenic syndrome 9
p.Leu404= Single submitter fetal akinesia deformation sequence 1
p.Leu411= Single submitter congenital myasthenic syndrome 9
p.Leu428= Single submitter fetal akinesia deformation sequence 1
p.Leu429= Single submitter fetal akinesia deformation sequence 1
p.Leu478= Single submitter congenital myasthenic syndrome 9
p.Leu515= Single submitter congenital myasthenic syndrome 9
p.Leu539= Single submitter congenital myasthenic syndrome 9
p.Leu566= Single submitter fetal akinesia deformation sequence 1
p.Leu568= Single submitter fetal akinesia deformation sequence 1
p.Leu597= Single submitter fetal akinesia deformation sequence 1
p.Leu611= Single submitter congenital myasthenic syndrome 9
p.Leu629Phe Single submitter fetal akinesia deformation sequence 1
p.Leu70= Single submitter fetal akinesia deformation sequence 1
p.Leu732= Single submitter congenital myasthenic syndrome 9
p.Leu800= Single submitter fetal akinesia deformation sequence 1
p.Leu821= Single submitter fetal akinesia deformation sequence 1
p.Leu831= Single submitter fetal akinesia deformation sequence 1
p.Leu837= Single submitter fetal akinesia deformation sequence 1
p.Leu84= Single submitter fetal akinesia deformation sequence 1
p.Lys120= Single submitter fetal akinesia deformation sequence 1
p.Lys287= Single submitter fetal akinesia deformation sequence 1
p.Lys408= Single submitter fetal akinesia deformation sequence 1
p.Lys470= Single submitter
p.Phe225= Single submitter fetal akinesia deformation sequence 1
p.Phe47= Single submitter fetal akinesia deformation sequence 1
p.Phe504= Single submitter fetal akinesia deformation sequence 1
p.Phe655= Single submitter fetal akinesia deformation sequence 1
p.Pro148= Single submitter fetal akinesia deformation sequence 1
p.Pro277= Single submitter fetal akinesia deformation sequence 1
p.Pro55= Single submitter congenital myasthenic syndrome 9
p.Pro550= Single submitter congenital myasthenic syndrome 9
p.Pro563= Single submitter fetal akinesia deformation sequence 1
p.Pro602= Single submitter congenital myasthenic syndrome 9
p.Pro650= Single submitter congenital myasthenic syndrome 9
p.Pro694= Single submitter congenital myasthenic syndrome 9
p.Pro696= Single submitter congenital myasthenic syndrome 9
p.Pro802= Single submitter fetal akinesia deformation sequence 1
p.Pro828= Single submitter congenital myasthenic syndrome 9
p.Ser19= Single submitter fetal akinesia deformation sequence 1
p.Ser253= Single submitter fetal akinesia deformation sequence 1
p.Ser256= Single submitter fetal akinesia deformation sequence 1
p.Ser268= Single submitter congenital myasthenic syndrome 9
p.Ser293= Single submitter fetal akinesia deformation sequence 1
p.Ser472= Single submitter fetal akinesia deformation sequence 1
p.Ser482= Single submitter fetal akinesia deformation sequence 1
p.Ser484= Single submitter fetal akinesia deformation sequence 1
p.Ser485= Single submitter fetal akinesia deformation sequence 1
p.Ser487= Single submitter fetal akinesia deformation sequence 1
p.Ser541= Single submitter fetal akinesia deformation sequence 1
p.Ser616= Single submitter fetal akinesia deformation sequence 1
p.Ser669= Single submitter fetal akinesia deformation sequence 1
p.Ser671= Single submitter congenital myasthenic syndrome 9
p.Ser677= Single submitter congenital myasthenic syndrome 9
p.Ser752= Single submitter fetal akinesia deformation sequence 1
p.Ser76= Single submitter fetal akinesia deformation sequence 1

Uncertain significance 317

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

c.359-2dup Multiple submitters congenital myasthenic syndrome 9
p.Ala212Val Multiple submitters Inborn genetic diseases ⚠
p.Ala318Thr Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Ala327Thr Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Ala355Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala585Pro Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Arg125Cys Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Arg125His Multiple submitters congenital myasthenic syndrome 9
p.Arg264Gln Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Arg367Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg367Trp Multiple submitters Inborn genetic diseases
p.Arg519Gln Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Arg588Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg593Thr Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Arg668Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg668His Multiple submitters Inborn genetic diseases ⚠
p.Arg719His Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Arg724Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg74Gln Multiple submitters fetal akinesia deformation sequence 1
p.Arg74Trp Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Arg767His Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Arg778His Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Arg78Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg816Gln Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Arg836His Multiple submitters Inborn genetic diseases ⚠
p.Arg854Gln Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Arg858Cys Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Asn286Ser Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Asn338Lys Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Asn376Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn736Lys Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Asp454Asn Multiple submitters MUSK-related disorder ⚠
p.Cys190Arg Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Cys233Arg Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Cys447Arg Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Gln310Pro Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Glu346Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu3Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu425Lys Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Glu614Ala Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Glu632Val Multiple submitters fetal akinesia deformation sequence 1
p.Glu782Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu810Asp Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Gly186Ala Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Gly648Arg Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Gly693Arg Multiple submitters congenital myasthenic syndrome 9 ⚠
p.His427Asp Multiple submitters congenital myasthenic syndrome 9
p.Ile506Val Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Ile581Asn Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Ile638Leu Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Ile741Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile77Thr Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Leu15Met Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Leu40Ser Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Leu642Ser Multiple submitters MUSK-related disorder ⚠
p.Leu697His Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Lys156Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys156Met Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Lys408Glu Multiple submitters congenital myasthenic syndrome 9
p.Lys528Thr Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Met145Val Multiple submitters Inborn genetic diseases ⚠
p.Met426Lys Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Met501_Ser502insThr Multiple submitters congenital myasthenic syndrome 9
p.Met553Val Multiple submitters Inborn genetic diseases ⚠
p.Met605Val Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Phe225Tyr Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Pro121Ser Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Pro121Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro241Ser Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Pro368Ser Multiple submitters congenital myasthenic syndrome 9
p.Pro558Arg Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Pro558Leu Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Pro571Thr Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Pro672Ser Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Pro802His Multiple submitters Inborn genetic diseases ⚠
p.Ser227Tyr Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Ser383Ile Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Ser493Phe Multiple submitters Inborn genetic diseases
p.Ser616Leu Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Ser88Asn Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Ter870Gln Multiple submitters fetal akinesia deformation sequence 1
p.Thr234Ile Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Thr300Asn Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Thr354Met Multiple submitters Inborn genetic diseases
p.Thr538Arg Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Trp306Gly Multiple submitters Inborn genetic diseases ⚠
p.Trp410Cys Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Tyr455Asp Multiple submitters Inborn genetic diseases ⚠
p.Tyr600Asn Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Tyr657His Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Val180Ile Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Val387Leu Multiple submitters congenital myasthenic syndrome 9 ⚠
p.Val412Ala Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Val496Leu Multiple submitters Inborn genetic diseases ⚠
p.Val675Met Multiple submitters fetal akinesia deformation sequence 1 ⚠
p.Val829Met Multiple submitters congenital myasthenic syndrome 9 ⚠
c.1384+5G>A Single submitter fetal akinesia deformation sequence 1
c.1385-3C>T Single submitter congenital myasthenic syndrome 9
c.1928-6T>C Single submitter congenital myasthenic syndrome 9
c.1928-8G>A Single submitter
c.206+5G>A Single submitter fetal akinesia deformation sequence 1
c.486+6T>G Single submitter congenital myasthenic syndrome 9
c.753+5G>A Single submitter congenital myasthenic syndrome 9
c.754-6T>A Single submitter fetal akinesia deformation sequence 1
c.920+5G>C Single submitter congenital myasthenic syndrome 9
c.-43G>A Single submitter congenital myasthenic syndrome 9
p.Ala168Val Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala17Val Single submitter Inborn genetic diseases ⚠
p.Ala199Val Single submitter Inborn genetic diseases ⚠
p.Ala217Thr Single submitter Inborn genetic diseases ⚠
p.Ala235Thr Single submitter congenital myasthenic syndrome 9 ⚠
p.Ala330Gly Single submitter Inborn genetic diseases ⚠
p.Ala333Val Single submitter Inborn genetic diseases ⚠
p.Ala342Thr Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala372Asn Single submitter congenital myasthenic syndrome 9
p.Ala372Asp Single submitter Inborn genetic diseases ⚠
p.Ala372Thr Single submitter Inborn genetic diseases ⚠
p.Ala407Val Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala448Asp Single submitter congenital myasthenic syndrome 9 ⚠
p.Ala45Pro Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala585Val Single submitter congenital myasthenic syndrome 9 ⚠
p.Ala628Thr Single submitter ⚠
p.Ala710Pro Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala711Gly Single submitter congenital myasthenic syndrome 9
p.Ala714Pro Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ala753Thr Single submitter Inborn genetic diseases ⚠
p.Arg162Gly Single submitter Inborn genetic diseases ⚠
p.Arg216Gln Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg216Gly Single submitter Inborn genetic diseases ⚠
p.Arg216Leu Single submitter congenital myasthenic syndrome 9 ⚠
p.Arg216Trp Single submitter Inborn genetic diseases ⚠
p.Arg264Gly Single submitter Inborn genetic diseases ⚠
p.Arg367Gly Single submitter congenital myasthenic syndrome 9 ⚠
p.Arg367Pro Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg395Ile Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg419Ser Single submitter Inborn genetic diseases ⚠
p.Arg521del Single submitter fetal akinesia deformation sequence 1
p.Arg588Thr Single submitter Inborn genetic diseases ⚠
p.Arg625Lys Single submitter fetal akinesia deformation sequence 1 ⚠
p.Arg625Ser Single submitter ⚠
p.Arg719Cys Single submitter congenital myasthenic syndrome 9 ⚠
p.Arg748Lys Single submitter Inborn genetic diseases ⚠
p.Arg767Cys Single submitter congenital myasthenic syndrome 9 ⚠
p.Arg778Cys Single submitter congenital myasthenic syndrome 9 ⚠
p.Arg816Leu Single submitter congenital myasthenic syndrome 9 ⚠
p.Arg836Cys Single submitter congenital myasthenic syndrome 9 ⚠
p.Arg862Gly Single submitter ⚠
p.Asn147Lys Single submitter fetal akinesia deformation sequence 1 ⚠
p.Asn179Tyr Single submitter congenital myasthenic syndrome 9 ⚠
p.Asn222Ile Single submitter fetal akinesia deformation sequence 1 ⚠
p.Asn562Lys Single submitter congenital myasthenic syndrome 9 ⚠
p.Asn6Ser Single submitter congenital myasthenic syndrome 9 ⚠
p.Asn80Ser Single submitter congenital myasthenic syndrome 9 ⚠
p.Asp263Ala Single submitter fetal akinesia deformation sequence 1 ⚠
p.Asp312Val Single submitter fetal akinesia deformation sequence 1
p.Asp474Asn Single submitter congenital myasthenic syndrome 9 ⚠
p.Asp546Tyr Single submitter Inborn genetic diseases ⚠
p.Asp618Asn Single submitter ⚠
p.Asp618Gly Single submitter congenital myasthenic syndrome 9 ⚠
p.Asp622Val Single submitter congenital myasthenic syndrome 9 ⚠
p.Asp754Asn Single submitter congenital myasthenic syndrome 9
p.Asp754Glu Single submitter fetal akinesia deformation sequence 1 ⚠
p.Asp784Asn Single submitter congenital myasthenic syndrome 9 ⚠
p.Asp784Glu Single submitter fetal akinesia deformation sequence 1 ⚠
p.Asp845Gly Single submitter Inborn genetic diseases ⚠
p.Cys406Ser Single submitter congenital myasthenic syndrome 9 ⚠
p.Cys838Ser Single submitter Inborn genetic diseases ⚠
p.Cys860Phe Single submitter fetal akinesia deformation sequence 1 ⚠
p.Cys99Phe Single submitter fetal akinesia deformation sequence 1 ⚠
p.Gln116His Single submitter congenital myasthenic syndrome 9 ⚠
p.Gln187Arg Single submitter Inborn genetic diseases ⚠
p.Glu134Gln Single submitter Inborn genetic diseases ⚠
p.Glu247Asp Single submitter fetal akinesia deformation sequence 1 ⚠
p.Glu259Lys Single submitter congenital myasthenic syndrome 9 ⚠
p.Glu345Asp Single submitter congenital myasthenic syndrome 9
p.Glu346Gln Single submitter congenital myasthenic syndrome 9 ⚠
p.Glu43Asp Single submitter congenital myasthenic syndrome 9 ⚠
p.Glu458Lys Single submitter congenital myasthenic syndrome 9 ⚠
p.Glu52Ala Single submitter
p.Glu569Val Single submitter fetal akinesia deformation sequence 1 ⚠
p.Glu583Ala Single submitter ⚠
p.Glu632Asp Single submitter congenital myasthenic syndrome 9
p.Glu656Gln Single submitter Inborn genetic diseases ⚠
p.Glu772Lys Single submitter fetal akinesia deformation sequence 1 ⚠
p.Glu861Lys Single submitter fetal akinesia deformation sequence 1 ⚠
p.Gly135Arg Single submitter congenital myasthenic syndrome 9
p.Gly186Glu Single submitter Inborn genetic diseases ⚠
p.Gly197Arg Single submitter congenital myasthenic syndrome 9 ⚠
p.Gly20Arg Single submitter congenital myasthenic syndrome 9 ⚠
p.Gly226_Phe228del Single submitter
p.Gly237Ala Single submitter Inborn genetic diseases ⚠
p.Gly249Arg Single submitter fetal akinesia deformation sequence 1 ⚠
p.Gly278Val Single submitter ⚠
p.Gly315_Tyr316delinsAspAsn Single submitter congenital myasthenic syndrome 9
p.Gly322Ala Single submitter congenital myasthenic syndrome 9 ⚠
p.Gly322Arg Single submitter fetal akinesia deformation sequence 1 ⚠
p.Gly584Glu Single submitter congenital myasthenic syndrome 9 ⚠
p.Gly81Ala Single submitter fetal akinesia deformation sequence 1 ⚠
p.His441Tyr Single submitter Inborn genetic diseases ⚠
p.His808Arg Single submitter congenital myasthenic syndrome 9 ⚠
p.Ile266Thr Single submitter congenital myasthenic syndrome 9 ⚠
p.Ile283Thr Single submitter congenital myasthenic syndrome 9 ⚠
p.Ile283Val Single submitter Inborn genetic diseases ⚠
p.Ile497Lys Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ile512Val Single submitter Inborn genetic diseases ⚠
p.Ile638Thr Single submitter Inborn genetic diseases ⚠
p.Ile750Asn Single submitter congenital myasthenic syndrome 9 ⚠
p.Ile7Thr Single submitter ⚠
p.Leu140Val Single submitter ⚠
p.Leu170His Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu206Gln Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu231Pro Single submitter congenital myasthenic syndrome 9 ⚠
p.Leu351Pro Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu373Phe Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu428Trp Single submitter Inborn genetic diseases ⚠
p.Leu4Pro Single submitter Inborn genetic diseases ⚠
p.Leu515Val Single submitter congenital myasthenic syndrome 9 ⚠
p.Leu536Val Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu565Val Single submitter Inborn genetic diseases ⚠
p.Leu663Ile Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu821Pro Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu834Arg Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu834Pro Single submitter fetal akinesia deformation sequence 1 ⚠
p.Leu87Val Single submitter congenital myasthenic syndrome 9 ⚠
p.Lys120Asn Single submitter fetal akinesia deformation sequence 1 ⚠
p.Lys182Asn Single submitter fetal akinesia deformation sequence 1 ⚠
p.Lys291Arg Single submitter congenital myasthenic syndrome 9 ⚠
p.Lys436Asn Single submitter Inborn genetic diseases ⚠
p.Lys69Asn Single submitter fetal akinesia deformation sequence 1 ⚠
p.Lys757Gln Single submitter ⚠
p.Met119Ile Single submitter Inborn genetic diseases ⚠
p.Met413Thr Single submitter congenital myasthenic syndrome 9 ⚠
p.Met48Val Single submitter Inborn genetic diseases ⚠
p.Met605Leu Single submitter congenital myasthenic syndrome 9
p.Met619Thr Single submitter fetal akinesia deformation sequence 1 ⚠
p.Met658Val Single submitter Inborn genetic diseases
p.Phe292Cys Single submitter fetal akinesia deformation sequence 1 ⚠
p.Phe292Leu Single submitter ⚠
p.Phe463Leu Single submitter Inborn genetic diseases ⚠
p.Phe586Cys Single submitter ⚠
p.Phe603Leu Single submitter Inborn genetic diseases ⚠
p.Phe633Ser Single submitter congenital myasthenic syndrome 9 ⚠
p.Phe775Ser Single submitter ⚠
p.Phe796Leu Single submitter ⚠
p.Pro160Leu Single submitter fetal akinesia deformation sequence 1 ⚠
p.Pro28Leu Single submitter congenital myasthenic syndrome 9 ⚠
p.Pro388Ser Single submitter Inborn genetic diseases
p.Pro392His Single submitter Inborn genetic diseases ⚠
p.Pro465Ser Single submitter Inborn genetic diseases ⚠
p.Pro558Ser Single submitter Inborn genetic diseases
p.Pro595Arg Single submitter fetal akinesia deformation sequence 1 ⚠
p.Pro599Ser Single submitter congenital myasthenic syndrome 9
p.Pro602Ser Single submitter congenital myasthenic syndrome 9 ⚠
p.Pro636Thr Single submitter fetal akinesia deformation sequence 1 ⚠
p.Pro847Thr Single submitter congenital myasthenic syndrome 9 ⚠
p.Ser165Phe Single submitter congenital myasthenic syndrome 9 ⚠
p.Ser19Arg Single submitter Inborn genetic diseases ⚠
p.Ser201Ala Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ser201Pro Single submitter ⚠
p.Ser227Thr Single submitter Inborn genetic diseases ⚠
p.Ser254= Single submitter congenital myasthenic syndrome 9
p.Ser254dup Single submitter congenital myasthenic syndrome 9
p.Ser260Cys Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ser481Cys Single submitter Inborn genetic diseases ⚠
p.Ser482Cys Single submitter ⚠
p.Ser485del Single submitter fetal akinesia deformation sequence 1
p.Ser487Pro Single submitter Inborn genetic diseases ⚠
p.Ser489Pro Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ser616Trp Single submitter fetal akinesia deformation sequence 1 ⚠
p.Ser681Asn Single submitter Inborn genetic diseases ⚠
p.Ser773Thr Single submitter Inborn genetic diseases ⚠
p.Ser840Arg Single submitter ⚠
p.Thr144Ala Single submitter congenital myasthenic syndrome 9 ⚠
p.Thr198Ile Single submitter congenital myasthenic syndrome 9 ⚠
p.Thr224Ala Single submitter Inborn genetic diseases ⚠
p.Thr234Ala Single submitter Inborn genetic diseases ⚠
p.Thr244Asn Single submitter Inborn genetic diseases ⚠
p.Thr285Ser Single submitter Inborn genetic diseases ⚠
p.Thr300Ile Single submitter fetal akinesia deformation sequence 1
p.Thr32Ser Single submitter Inborn genetic diseases ⚠
p.Thr467Met Single submitter congenital myasthenic syndrome 9 ⚠
p.Thr491Ile Single submitter fetal akinesia deformation sequence 1 ⚠
p.Thr514Ile Single submitter fetal akinesia deformation sequence 1 ⚠
p.Thr514Pro Single submitter fetal akinesia deformation sequence 1
p.Thr73Ala Single submitter Inborn genetic diseases ⚠
p.Thr73Ile Single submitter fetal akinesia deformation sequence 1 ⚠
p.Thr780Ile Single submitter ⚠
p.Thr85Ala Single submitter congenital myasthenic syndrome 9 ⚠
p.Thr85Ile Single submitter ⚠
p.Trp442Arg Single submitter fetal akinesia deformation sequence 1 ⚠
p.Trp786Arg Single submitter ⚠
p.Trp839Cys Single submitter fetal akinesia deformation sequence 1 ⚠
p.Tyr316His Single submitter fetal akinesia deformation sequence 1 ⚠
p.Tyr600Cys Single submitter congenital myasthenic syndrome 9
p.Tyr660Cys Single submitter Inborn genetic diseases ⚠
p.Tyr751His Single submitter ⚠
p.Tyr755_Tyr756del Single submitter fetal akinesia deformation sequence 1
p.Tyr804Cys Single submitter fetal akinesia deformation sequence 1 ⚠
p.Tyr814Asp Single submitter fetal akinesia deformation sequence 1 ⚠
p.Tyr814Cys Single submitter ⚠