GMPPB — 438 ClinVar variants

All ClinVar germline GMPPB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 170 flagged for review →

23 Pathogenic · 11 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 21 Conflicting · 5 Benign · 6 Benign/Likely benign · 152 Likely benign · 195 Uncertain significance

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

⚑ Evidence disagreements 170

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

Predictors vs ClinVar 8

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

GMPPB p.Arg287Gln Pathogenic/Likely pathogenic Multiple submitters
GMPPB-related disorder
GMPPB p.Asp334Asn Pathogenic/Likely pathogenic Multiple submitters
GMPPB-related disorder
GMPPB p.Val330Ile Pathogenic/Likely pathogenic Multiple submitters
GMPPB-related disorder
GMPPB p.Arg357Cys Likely pathogenic Single submitter
GMPPB p.Met120Val Pathogenic Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2T
GMPPB p.Pro103Leu Likely pathogenic Single submitter
Abnormality of the musculature
GMPPB p.Pro241Thr Likely pathogenic Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Pro276Leu Likely pathogenic Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2T

Predictors agree, ClinVar conflicts 10

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

GMPPB p.Arg243Gln Conflicting Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Arg261Cys Conflicting Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Arg288Trp Conflicting Single submitter
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
GMPPB p.Asn169Ser Conflicting Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Gly340Arg Conflicting Single submitter
GMPPB p.Gly350Ser Conflicting Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Met175Ile Conflicting Single submitter
Inborn genetic diseases
GMPPB p.Pro32Ser Conflicting Single submitter
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
GMPPB p.Tyr10Cys Conflicting Single submitter
Inborn genetic diseases
GMPPB p.Val343Leu Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 112

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

GMPPB p.Ala40Pro Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Arg158Trp Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Arg296Gln Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Arg298His Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Arg311His Uncertain significance Multiple submitters
Inborn genetic diseases
GMPPB p.Arg313Cys Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Arg313His Uncertain significance Multiple submitters
Inborn genetic diseases
GMPPB p.Arg319His Uncertain significance Multiple submitters
Inborn genetic diseases
GMPPB p.Cys312Ser Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Gln238His Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Glu281Lys Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2T
GMPPB p.Gly249Asp Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Gly269Asp Uncertain significance Multiple submitters
GMPPB p.His346Pro Uncertain significance Multiple submitters
Inborn genetic diseases
GMPPB p.Ile5Met Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Leu303Phe Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Phe28Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GMPPB p.Pro24Ser Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Pro83Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GMPPB p.Val323Met Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Ala119Asp Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Ala43Val Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Ala91Thr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Arg125Gln Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Arg13Leu Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2T
GMPPB p.Arg155Gly Uncertain significance Single submitter
Inborn genetic diseases
GMPPB p.Arg158Pro Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
GMPPB p.Arg185Leu Uncertain significance Single submitter
GMPPB p.Arg261Pro Uncertain significance Single submitter
GMPPB p.Arg288Pro Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Arg293Gln Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
GMPPB p.Arg296Trp Uncertain significance Single submitter
Inborn genetic diseases
GMPPB p.Arg313Leu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
GMPPB p.Arg74Gln Uncertain significance Single submitter
GMPPB p.Asn172Lys Uncertain significance Single submitter
GMPPB p.Asn253Asp Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
GMPPB p.Asn253Ser Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Asn333Tyr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
GMPPB p.Asn339Lys Uncertain significance Single submitter
Inborn genetic diseases
GMPPB p.Asp102Asn Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2T
GMPPB p.Asp114Tyr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Asp224Tyr Uncertain significance Single submitter
GMPPB-related disorder
GMPPB p.Asp257Asn Uncertain significance Single submitter
GMPPB p.Cys230Arg Uncertain significance Single submitter
GMPPB p.Cys29Phe Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Cys306Trp Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2T
GMPPB p.Gln122His Uncertain significance Single submitter
GMPPB p.Gln213Arg Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2T
GMPPB p.Gln264Arg Uncertain significance Single submitter
GMPPB p.Gln264His Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Gln69His Uncertain significance Single submitter
Inborn genetic diseases
GMPPB p.Glu130Lys Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Glu150Val Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Glu328Lys Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Glu39Gly Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Glu63Ala Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
GMPPB p.Glu63Lys Uncertain significance Single submitter
GMPPB p.Glu99Asp Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2T
GMPPB p.Glu99Gln Uncertain significance Single submitter
GMPPB p.Gly145Ala Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Gly145Ser Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2T
GMPPB p.Gly154Asp Uncertain significance Single submitter
GMPPB p.Gly174Ala Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
GMPPB p.Gly220Arg Uncertain significance Single submitter
GMPPB p.Gly263Ser Uncertain significance Single submitter
GMPPB p.Gly269Cys Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2T
GMPPB p.Gly340Ala Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
GMPPB p.Gly8Glu Uncertain significance Single submitter
GMPPB p.His346Tyr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Ile177Val Uncertain significance Single submitter
Global developmental delay
GMPPB p.Ile193Thr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Ile262Val Uncertain significance Single submitter
GMPPB p.Ile331Thr Uncertain significance Single submitter
Inborn genetic diseases
GMPPB p.Ile349Thr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Ile359Met Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Ile73Thr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Leu19Gln Uncertain significance Single submitter
Inborn genetic diseases
GMPPB p.Leu338Phe Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Leu97Pro Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
GMPPB p.Lys170Asn Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Lys195Arg Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Lys23Arg Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Met175Thr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Met210Thr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Met320Val Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
GMPPB p.Met64Arg Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Phe104Leu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Phe104Ser Uncertain significance Single submitter
GMPPB p.Pro103His Uncertain significance Single submitter
Inborn genetic diseases
GMPPB p.Pro199Arg Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Pro248Ser Uncertain significance Single submitter
GMPPB p.Pro24Leu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Pro270Ser Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
GMPPB p.Ser168Tyr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Thr191Met Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Thr21Asn Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Trp310Leu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Trp317Cys Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2T
GMPPB p.Tyr337His Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Val111Gly Uncertain significance Single submitter
GMPPB p.Val111Met Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Val254Gly Uncertain significance Single submitter
GMPPB p.Val278Met Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Val284Met Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
GMPPB p.Val308Gly Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Val314Met Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Val323Leu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Val330Ala Uncertain significance Single submitter
Inborn genetic diseases
GMPPB p.Val343Met Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
GMPPB p.Val353Ala Uncertain significance Single submitter
Inborn genetic diseases
GMPPB p.Glu335Val Uncertain significance No assertion criteria
Elevated circulating creatine kinase activity
GMPPB p.Leu34Phe Uncertain significance No assertion criteria
GMPPB-related disorder

Predictors split 40

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

GMPPB p.Arg185His Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
GMPPB p.Arg293Trp Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Asn271Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GMPPB p.Asp102His Uncertain significance Multiple submitters
Inborn genetic diseases
GMPPB p.Gly72Ala Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
GMPPB p.Ile219Thr Pathogenic/Likely pathogenic Multiple submitters
GMPPB-related disorder
GMPPB p.Ser54Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GMPPB p.Thr290Met Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Val160Met Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Arg155His Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
GMPPB p.Arg243Trp Conflicting Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2T
GMPPB p.Arg293Pro Uncertain significance Single submitter
Inborn genetic diseases
GMPPB p.Arg311Cys Conflicting Single submitter
Inborn genetic diseases
GMPPB p.Arg357His Conflicting Single submitter
GMPPB-related disorder
GMPPB p.Arg94Gly Uncertain significance Single submitter
GMPPB p.Asn322Lys Uncertain significance Single submitter
Inborn genetic diseases
GMPPB p.Asn339Ser Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Cys113Tyr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Glu140Gln Uncertain significance Single submitter
GMPPB p.Glu211Gln Uncertain significance Single submitter
GMPPB p.Glu304Lys Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Glu61Asp Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Glu82Lys Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Glu99Gly Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2T
GMPPB p.Gly128Asp Uncertain significance Single submitter
Inborn genetic diseases
GMPPB p.Gly131Ala Uncertain significance Single submitter
GMPPB p.Gly205Glu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.His36Tyr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Ile262Met Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Leu188Pro Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Lys347Arg Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Met201Ile Uncertain significance Single submitter
Inborn genetic diseases
GMPPB p.Met229Thr Uncertain significance Single submitter
GMPPB p.Met56Thr Uncertain significance Single submitter
GMPPB p.Ser132Cys Conflicting Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Ser179Gly Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Ser246Leu Uncertain significance Single submitter
GMPPB p.Thr100Ile Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Val160Leu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB p.Val279Met Uncertain significance Single submitter
Inborn genetic diseases

All GMPPB variants

Pathogenic 23

p.Arg287Trp Multiple submitters GMPPB-related disorder
p.Gln164Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
p.Pro32Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.260-1G>A Single submitter
p.Ala91fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Cys149fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Cys266Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
p.Cys285fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Gln264Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Gln37Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Glu99Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Gly340fs Single submitter GMPPB-related disorder
p.Gly45fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Leu207fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Met120Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T ⚠
p.Phe123fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Ser348Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Ser352Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Ser76fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Trp317Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Val325fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Arg74Ter No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Pro22Ser No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2T

Pathogenic/Likely pathogenic 11

c.402+1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2T
c.640+1G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Arg185Cys Multiple submitters muscular dystrophy-dystroglycanopathy
p.Arg243fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Arg287Gln Multiple submitters GMPPB-related disorder ⚠
p.Asp27His Multiple submitters GMPPB-related disorder
p.Asp334Asn Multiple submitters GMPPB-related disorder ⚠
p.Ile219Thr Multiple submitters GMPPB-related disorder ⚠
p.Thr153fs Multiple submitters Abnormality of the musculature
p.Thr153Ile Multiple submitters GMPPB-related disorder
p.Val330Ile Multiple submitters GMPPB-related disorder ⚠

Likely pathogenic 25

c.129+1G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2T
c.640+1G>C Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Val254Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2T
c.129+1G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.130-2A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T
c.641-2A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.769-2A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.951+28_951+29insGGGGGGGGGC Single submitter
p.Arg319Cys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Arg357Cys Single submitter ⚠
p.Gln213fs Single submitter
p.Glu99fs Single submitter
p.Ile219Phe Single submitter Abnormality of the musculature
p.Ile268Thr Single submitter
p.Leu96_Asp102del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Lys31Glu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Met229fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T
p.Pro103Leu Single submitter Abnormality of the musculature ⚠
p.Pro22Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Pro241Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Pro276fs Single submitter
p.Pro276Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T ⚠
p.Ser98fs Single submitter myopathy caused by variation in GMPPB
p.Trp310_Gly315del Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
p.Tyr337fs Single submitter

Conflicting classifications of pathogenicity 21

c.130-3C>G Single submitter
c.951+7C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.952-12C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T
c.952-14A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.952-21_952-17dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T
p.Arg243Gln Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Arg243Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T ⚠
p.Arg261Cys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Arg287= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Arg288Trp Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 ⚠
p.Arg311Cys Single submitter Inborn genetic diseases ⚠
p.Arg357His Single submitter GMPPB-related disorder ⚠
p.Asn169Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Gly340Arg Single submitter ⚠
p.Gly350Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Met175Ile Single submitter Inborn genetic diseases ⚠
p.Pro32Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 ⚠
p.Ser132Cys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Tyr10Cys Single submitter Inborn genetic diseases ⚠
p.Val318Ala Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Val343Leu Single submitter Inborn genetic diseases ⚠

Benign 5

p.Gln184Arg Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.-412C>T Single submitter
c.-446G>A Single submitter
c.-454G>A Single submitter
p.Gln184= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

Benign/Likely benign 6

c.211-15del Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.211-15dup Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.640+11G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Asn172= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Asp110= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.His126Asp Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

Likely benign 152

c.129+17G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2T
c.130-6T>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.211-7C>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.402+15C>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.402+8G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.403-6A>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
c.403-8G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.561+14A>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.562-9C>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.640+19A>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.641-10C>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.641-11C>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
c.769-20_769-17dup Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.769-9C>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.951+9G>A Multiple submitters Inborn genetic diseases
p.Ala181= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Asn253= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2T
p.Asn339= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Asp329= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Gln234= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
p.Glu355= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Lys162= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Phe159= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Pro103= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Thr153= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Thr191= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Tyr10= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Val7= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.129+12G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.129+30G>A Single submitter
c.129+7C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.129+7C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.130-13T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.130-16G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.210+20C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.210+9_210+10del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.210+9C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.211-10T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.211-13CT[3] Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.211-14C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.211-17G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.211-20G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.211-20G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T
c.259+19G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.259+3C>T Single submitter
c.259+9A>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.260-13C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.260-5C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.260-7C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T
c.402+16T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.403-10T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.403-16C>T Single submitter
c.403-19T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.403-5T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.403-9T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
c.561+13C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.561+15G>A Single submitter
c.561+16C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.561+17T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
c.561+18G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.562-10A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.640+10G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T
c.640+15C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.641-10C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.641-14A>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.641-20T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
c.768+13C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.768+17G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
c.768+7C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
c.768+8C>T Single submitter
c.951+18G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.951+28_951+29insGGGGGGGC Single submitter
c.951+9G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.952-11C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.952-13T>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
c.952-15T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T
c.952-17C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.952-25T>C Single submitter
c.952-5del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.-29G>C Single submitter
p.Ala151= Single submitter
p.Ala66= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Arg155= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Arg313= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Arg357= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Asn108= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
p.Asn271= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Asn322= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Asn333= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
p.Asp218= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T
p.Asp224= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Cys306= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Cys312= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Gln206= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T
p.Gln221= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Gln316= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
p.Gln69= Single submitter
p.Glu130= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Glu139= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
p.Glu204= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Glu328= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Glu61= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
p.Glu68= Single submitter
p.Glu80= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
p.Gly205= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Gly214= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
p.Gly277= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Gly309= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Gly327= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Gly350= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Gly45= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
p.Gly88= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Ile177= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Ile200= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
p.Ile262= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Ile286= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
p.Ile5= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Ile50= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Ile75= Single submitter
p.Leu207= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Leu233= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Leu244= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Leu338= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Leu4= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
p.Leu96= Single submitter
p.Leu97= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Lys2= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Phe105= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Phe198= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Pro199= Single submitter
p.Pro276= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Ser179= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
p.Ser267= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
p.Ser273= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Ser301= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Ser342= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Ser57= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
p.Ter361= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Thr100= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Thr12= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Thr290= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Thr324= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Tyr144= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Val280= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Val318= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Val53= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T
c.561+8G>A No assertion criteria GMPPB-related disorder
c.951+19C>G No assertion criteria
c.951+20T>G No assertion criteria
c.-94C>T No assertion criteria GMPPB-related disorder
p.Arg243= No assertion criteria GMPPB-related disorder
p.Arg311= No assertion criteria GMPPB-related disorder

Uncertain significance 195

c.129+5G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2T
c.951+28G>A Multiple submitters Inborn genetic diseases
c.951+32G>A Multiple submitters Inborn genetic diseases
c.952-22C>A Multiple submitters Inborn genetic diseases
p.Ala40Pro Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Arg158Trp Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Arg185His Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 ⚠
p.Arg293Trp Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Arg296Gln Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Arg298His Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Arg311His Multiple submitters Inborn genetic diseases ⚠
p.Arg313Cys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Arg313His Multiple submitters Inborn genetic diseases ⚠
p.Arg319His Multiple submitters Inborn genetic diseases ⚠
p.Arg70= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Asn271Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp102His Multiple submitters Inborn genetic diseases ⚠
p.Cys312Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Gln238His Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Glu281Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2T ⚠
p.Gly249Asp Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Gly269Asp Multiple submitters ⚠
p.Gly72Ala Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 ⚠
p.His346Pro Multiple submitters Inborn genetic diseases ⚠
p.Ile5Met Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Leu303Phe Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Phe28Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro24Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Pro83Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser54Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr290Met Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Val160Met Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Val197Phe Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
p.Val323Met Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
c.129+3A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.129+6A>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
c.202_210+11dup Single submitter
c.259+3C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.259+6T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.402+7C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.562-3C>T Single submitter
c.562-7C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.641-19_641-9del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.769-10C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.951+14CTGGG[3] Single submitter
c.951+16G>A Single submitter Inborn genetic diseases
c.951+26G>A Single submitter
c.951+37G>A Single submitter
c.951+5G>A Single submitter
c.952-18_952-17delinsTT Single submitter
c.952-22C>G Single submitter
c.952-2A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
c.952-38G>C Single submitter
c.952-9C>T Single submitter
c.-5_-4delinsTT Single submitter
p.Ala119Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Ala43= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Ala43Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Ala91Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Arg125Gln Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Arg13Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T ⚠
p.Arg155Gly Single submitter Inborn genetic diseases ⚠
p.Arg155His Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 ⚠
p.Arg158Pro Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 ⚠
p.Arg185Leu Single submitter ⚠
p.Arg261Pro Single submitter ⚠
p.Arg288Pro Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Arg293Gln Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 ⚠
p.Arg293Pro Single submitter Inborn genetic diseases ⚠
p.Arg296Trp Single submitter Inborn genetic diseases ⚠
p.Arg313Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 ⚠
p.Arg74Gln Single submitter ⚠
p.Arg74Pro Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Arg94Gly Single submitter ⚠
p.Asn172Lys Single submitter ⚠
p.Asn253Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 ⚠
p.Asn253Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Asn322Lys Single submitter Inborn genetic diseases ⚠
p.Asn333Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 ⚠
p.Asn339Lys Single submitter Inborn genetic diseases ⚠
p.Asn339Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Asp102Asn Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T ⚠
p.Asp114His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Asp114Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Asp224Tyr Single submitter GMPPB-related disorder ⚠
p.Asp257Asn Single submitter ⚠
p.Cys113Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Cys230Arg Single submitter ⚠
p.Cys285Phe Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Cys29Phe Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Cys306Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T ⚠
p.Gln122His Single submitter ⚠
p.Gln184Ter Single submitter
p.Gln213Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T ⚠
p.Gln264Arg Single submitter ⚠
p.Gln264His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Gln316His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Gln69His Single submitter Inborn genetic diseases ⚠
p.Glu130Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Glu130Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Glu140Gln Single submitter ⚠
p.Glu150Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Glu161del Single submitter
p.Glu196del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T
p.Glu196Gln Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Glu211Gln Single submitter ⚠
p.Glu304Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Glu321_Asn322insGlu Single submitter
p.Glu328Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Glu39Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Glu61Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Glu63Ala Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 ⚠
p.Glu63Lys Single submitter ⚠
p.Glu82Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Glu99Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T ⚠
p.Glu99Gln Single submitter ⚠
p.Glu99Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T ⚠
p.Gly128Asp Single submitter Inborn genetic diseases ⚠
p.Gly131Ala Single submitter ⚠
p.Gly145Ala Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Gly145Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T ⚠
p.Gly154Asp Single submitter ⚠
p.Gly174Ala Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 ⚠
p.Gly205Glu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Gly220Arg Single submitter ⚠
p.Gly247= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Gly263Ser Single submitter ⚠
p.Gly269Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T ⚠
p.Gly340Ala Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 ⚠
p.Gly8Glu Single submitter ⚠
p.His346Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.His36Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Ile177Val Single submitter Global developmental delay ⚠
p.Ile193Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Ile262Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Ile262Val Single submitter ⚠
p.Ile331Thr Single submitter Inborn genetic diseases ⚠
p.Ile349Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Ile359Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Ile73Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Leu107del Single submitter
p.Leu188Pro Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Leu19Gln Single submitter Inborn genetic diseases ⚠
p.Leu338Phe Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Leu97dup Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Leu97Pro Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 ⚠
p.Lys170Asn Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Lys195Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Lys203del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Lys23Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Lys347Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Met175Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Met201Ile Single submitter Inborn genetic diseases ⚠
p.Met210Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Met229Thr Single submitter ⚠
p.Met320Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 ⚠
p.Met56Thr Single submitter ⚠
p.Met64Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Phe104Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Phe104Ser Single submitter ⚠
p.Pro103His Single submitter Inborn genetic diseases ⚠
p.Pro190Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Pro199Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Pro248Ser Single submitter ⚠
p.Pro24Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Pro270Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 ⚠
p.Pro83Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T
p.Ser168Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Ser179Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Ser246Leu Single submitter ⚠
p.Ser348dup Single submitter
p.Ser57Phe Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T
p.Thr100Ile Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Thr191Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Thr21Asn Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Trp310Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Trp317Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2T ⚠
p.Tyr337His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Val111Gly Single submitter ⚠
p.Val111Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Val160Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Val254Gly Single submitter ⚠
p.Val278Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Val279Met Single submitter Inborn genetic diseases ⚠
p.Val284Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 ⚠
p.Val308Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Val314Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
p.Val314Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Val323Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ⚠
p.Val330Ala Single submitter Inborn genetic diseases ⚠
p.Val343Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 ⚠
p.Val353Ala Single submitter Inborn genetic diseases ⚠
p.Glu335Val No assertion criteria Elevated circulating creatine kinase activity ⚠
p.Leu34Phe No assertion criteria GMPPB-related disorder ⚠
p.Val353Met No assertion criteria GMPPB-related disorder