CRPPA — 687 ClinVar variants

All ClinVar germline CRPPA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 243 flagged for review →

40 Pathogenic · 5 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 46 Conflicting · 59 Benign · 10 Benign/Likely benign · 158 Likely benign · 357 Uncertain significance

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

⚑ Evidence disagreements 243

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

Predictors vs ClinVar 1

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

CRPPA p.Gly54Ala Pathogenic No assertion criteria
autosomal recessive limb-girdle muscular dystrophy type 2U

Predictors agree, ClinVar conflicts 13

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

CRPPA p.Arg126Cys Conflicting Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Arg126His Conflicting Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Arg205His Conflicting Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Asp231Glu Conflicting Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Gln352Lys Conflicting Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Glu212Asp Conflicting Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Pro383Thr Conflicting Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Pro416Ser Conflicting Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Thr27Pro Conflicting Single submitter
Congenital Muscular Dystrophy, alpha-dystroglycan related
CRPPA p.Tyr226Cys Conflicting Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Tyr409Cys Conflicting Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Val191Ile Conflicting Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Val287Ile Conflicting Single submitter

Predictors lean, ClinVar uncertain 130

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

CRPPA p.Arg126Gly Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Arg74Thr Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Asn337Ser Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Asp294Gly Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Asp418Gly Uncertain significance Multiple submitters
Congenital Muscular Dystrophy, alpha-dystroglycan related
CRPPA p.Gln283Glu Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Gln329Lys Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Gln349Lys Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Gln428Lys Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Gln82Arg Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Glu239Lys Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Glu39Asp Uncertain significance Multiple submitters
CRPPA p.Glu85Lys Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Gly54Val Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.His26Pro Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.His300Arg Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.His312Arg Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.His326Gln Uncertain significance Multiple submitters
CRPPA p.His43Gln Uncertain significance Multiple submitters
CRPPA p.Ile142Asn Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Ile183Val Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Ile330Met Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Ile331Val Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Ile71Val Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Leu32Pro Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Leu412Val Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Lys246Arg Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Lys267Ile Uncertain significance Multiple submitters
CRPPA p.Met105Ile Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Pro193Ser Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Pro214Leu Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Pro214Thr Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Pro5Ser Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Pro65Thr Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Thr238Ile Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Thr291Lys Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Ala138Ser Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Ala138Val Uncertain significance Single submitter
CRPPA p.Ala179Glu Uncertain significance Single submitter
CRPPA p.Ala182Asp Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Ala24Pro Uncertain significance Single submitter
CRPPA p.Ala28Thr Uncertain significance Single submitter
CRPPA p.Ala451Ser Uncertain significance Single submitter
CRPPA p.Ala49Val Uncertain significance Single submitter
CRPPA p.Ala96Val Uncertain significance Single submitter
CRPPA p.Arg126Leu Uncertain significance Single submitter
CRPPA p.Arg184Gly Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Arg205Leu Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Arg395Gly Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Arg427Lys Uncertain significance Single submitter
CRPPA p.Arg42Cys Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Arg74Gly Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Arg74Met Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Asn337His Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Asp220His Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Asp269Glu Uncertain significance Single submitter
CRPPA p.Asp290Asn Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Asp290Gly Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Asp333Glu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Asp378Glu Uncertain significance Single submitter
CRPPA p.Cys229Tyr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Cys88Arg Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Gln215Lys Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Gln328His Uncertain significance Single submitter
CRPPA p.Gln447Glu Uncertain significance Single submitter
CRPPA p.Gln67His Uncertain significance Single submitter
CRPPA p.Gln82Pro Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Glu212Ala Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Glu212Lys Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Glu303Gln Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Glu39Gln Uncertain significance Single submitter
CRPPA p.Glu424Asp Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Glu58Lys Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Gly123Val Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Gly15Ala Uncertain significance Single submitter
CRPPA p.Gly20Ser Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Gly237Glu Uncertain significance Single submitter
CRPPA p.Gly23Arg Uncertain significance Single submitter
CRPPA p.Gly41Arg Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Gly54Arg Uncertain significance Single submitter
CRPPA p.Gly54Trp Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.His155Tyr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.His177Tyr Uncertain significance Single submitter
CRPPA p.Ile142Met Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Ile330Leu Uncertain significance Single submitter
CRPPA p.Ile331Met Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Ile331Thr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Ile450Met Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Leu234Phe Uncertain significance Single submitter
Congenital Muscular Dystrophy, alpha-dystroglycan related
CRPPA p.Leu243Phe Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Leu302Pro Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Leu377Val Uncertain significance Single submitter
CRPPA p.Leu408Ser Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Lys111Arg Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Lys148Gln Uncertain significance Single submitter
Congenital Muscular Dystrophy, alpha-dystroglycan related
CRPPA p.Lys251Arg Uncertain significance Single submitter
CRPPA p.Lys353Arg Uncertain significance Single submitter
CRPPA p.Lys380Ile Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Met102Leu Uncertain significance Single submitter
CRPPA p.Met289Arg Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Met289Val Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Met388Ile Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Met392Arg Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Met60Leu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Pro11Leu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Pro214Ser Uncertain significance Single submitter
CRPPA p.Pro383His Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Pro40Ala Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Pro65Ser Uncertain significance Single submitter
CRPPA p.Pro6Leu Uncertain significance Single submitter
CRPPA p.Pro70Arg Uncertain significance Single submitter
CRPPA p.Pro75Gln Uncertain significance Single submitter
CRPPA p.Ser211Asn Uncertain significance Single submitter
CRPPA p.Ser275Leu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Ser346Phe Uncertain significance Single submitter
CRPPA p.Thr189Ser Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Thr27Lys Uncertain significance Single submitter
CRPPA p.Thr80Asn Uncertain significance Single submitter
CRPPA p.Thr98Asn Uncertain significance Single submitter
CRPPA p.Trp262Arg Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Tyr112Asp Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Tyr367His Uncertain significance Single submitter
CRPPA p.Tyr79Ser Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Val151Ile Uncertain significance Single submitter
CRPPA p.Val166Asp Uncertain significance Single submitter
CRPPA p.Val166Ile Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Val170Gly Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Val187Ala Uncertain significance Single submitter
CRPPA p.Val343Ile Uncertain significance Single submitter
CRPPA p.Val95Leu Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Predictors split 99

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

CRPPA p.Ala272Val Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Ala398Thr Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Ala434Val Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Ala83Ser Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Ala83Val Uncertain significance Multiple submitters
CRPPA p.Arg116Cys Benign/Likely benign Multiple submitters
Congenital Muscular Dystrophy, alpha-dystroglycan related
CRPPA p.Arg116His Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Arg209Thr Uncertain significance Multiple submitters
Congenital Muscular Dystrophy, alpha-dystroglycan related
CRPPA p.Arg280Ile Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Asp196Val Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Asp378Gly Uncertain significance Multiple submitters
Congenital Muscular Dystrophy, alpha-dystroglycan related
CRPPA p.Gln67Pro Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Glu103Lys Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Glu121Gly Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Glu121Lys Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Gly178Arg Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Gly23Cys Benign/Likely benign Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Gly299Arg Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Gly299Cys Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.His297Pro Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Ile276Thr Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Ile406Met Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Ile93Val Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Leu137Val Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Leu199Phe Uncertain significance Multiple submitters
Congenital Muscular Dystrophy, alpha-dystroglycan related
CRPPA p.Leu327Val Uncertain significance Multiple submitters
CRPPA p.Leu408Phe Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Leu76Val Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Lys387Asn Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Pro259Leu Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Ser107Ile Uncertain significance Multiple submitters
Congenital Muscular Dystrophy, alpha-dystroglycan related
CRPPA p.Thr238Ser Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Thr291Ile Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Tyr201Phe Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Tyr232Cys Uncertain significance Multiple submitters
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Val305Gly Uncertain significance Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Ala210Thr Uncertain significance Single submitter
Congenital Muscular Dystrophy, alpha-dystroglycan related
CRPPA p.Ala216Ser Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Ala225Gly Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Ala430Val Uncertain significance Single submitter
CRPPA p.Ala451Gly Uncertain significance Single submitter
CRPPA p.Ala48Thr Uncertain significance Single submitter
CRPPA p.Ala9Thr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Arg10Trp Uncertain significance Single submitter
CRPPA p.Arg116Gly Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Arg116Pro Uncertain significance Single submitter
CRPPA p.Arg128Gly Uncertain significance Single submitter
CRPPA p.Arg128Thr Uncertain significance Single submitter
CRPPA p.Arg184Gln Conflicting Single submitter
Congenital Muscular Dystrophy, alpha-dystroglycan related
CRPPA p.Arg268Gln Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Arg86Gly Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Asn101Lys Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Asn132Ser Conflicting Single submitter
CRPPA p.Asn132Tyr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Asp200Asn Uncertain significance Single submitter
CRPPA p.Asp220Gly Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Asp231His Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Asp260Gly Uncertain significance Single submitter
CRPPA p.Asp347Val Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Asp418His Uncertain significance Single submitter
CRPPA p.Asp418Tyr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Cys286Ser Uncertain significance Single submitter
CRPPA p.Glu176Lys Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Glu274Asp Uncertain significance Single submitter
CRPPA p.Gly178Ala Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Gly61Arg Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Gly7Asp Uncertain significance Single submitter
CRPPA p.His208Arg Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Ile285Ser Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Ile437Thr Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Leu119Gln Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Leu186Val Uncertain significance Single submitter
CRPPA p.Leu243Val Uncertain significance Single submitter
CRPPA p.Leu270Phe Conflicting Single submitter
Congenital Muscular Dystrophy, alpha-dystroglycan related
CRPPA p.Leu436Ser Uncertain significance Single submitter
CRPPA p.Lys175Thr Uncertain significance Single submitter
CRPPA p.Lys314Glu Uncertain significance Single submitter
CRPPA p.Met102Val Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Phe236Cys Uncertain significance Single submitter
CRPPA p.Phe236Val Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Pro368Ala Uncertain significance Single submitter
CRPPA p.Pro384Leu Conflicting Single submitter
CRPPA p.Ser192Gly Uncertain significance Single submitter
CRPPA p.Ser202Leu Uncertain significance Single submitter
CRPPA p.Ser282Phe Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Ser34Asn Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Ser361Arg Uncertain significance Single submitter
CRPPA p.Ser361Asn Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Ser361Gly Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Ser78Thr Uncertain significance Single submitter
CRPPA p.Thr250Ser Uncertain significance Single submitter
CRPPA p.Thr38Ile Uncertain significance Single submitter
CRPPA p.Tyr223Cys Uncertain significance Single submitter
CRPPA p.Tyr232Asn Uncertain significance Single submitter
CRPPA p.Tyr79His Uncertain significance Single submitter
CRPPA p.Val170Ile Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Val221Met Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA p.Val255Ala Uncertain significance Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA p.Val371Ala Uncertain significance Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2U

All CRPPA variants

Pathogenic 40

c.1120-1G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U
p.Arg184Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Arg268Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U
p.Gln215Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Glu396Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Ser19fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U
c.1120-1G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.258-2A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.534+1del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
c.790-1G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.790-1G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Ala9fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Asn390_Leu391insTer Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Cys364Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Cys56fs Single submitter muscular dystrophy-dystroglycanopathy
p.Gln113Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Glu235fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Glu239fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Glu292fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Glu400Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Gly299fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.His375fs Single submitter
p.Leu241fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
p.Leu366fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Lys380Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Met1Leu Single submitter
p.Phe161fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Pro5fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Ser258Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Thr27fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Thr344fs Single submitter
c.(535_684 No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.789+2T>G No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Ala122Pro No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Ala216Asp No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Arg86Ter No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Asp156Asn No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Gly54Ala No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Lys278Ter No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Met213Arg No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Pathogenic/Likely pathogenic 5

c.258-1G>C Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.835+2T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U
p.Ser19Glufs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U
p.Val372del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U
p.Val62fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U

Likely pathogenic 12

c.1026+1G>A Single submitter
c.(278+1_279-1 Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.535-1G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.684+1312G>C Single submitter muscular dystrophy
c.769_789+179del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.836-5T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
c.933+1G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Arg205Cys Single submitter
p.Gln352fs Single submitter
p.Lys263= Single submitter CRPPA-related disorder
p.Tyr226His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Lys115fs No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Conflicting classifications of pathogenicity 46

c.1120-10T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.1120-19T>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.1120-4G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.1251+11T>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.684+12G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.789+9G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.790-11C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.836-9T>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.933+3A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
c.934-5A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Arg126Cys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Arg126His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Arg184Gln Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related ⚠
p.Arg205His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Arg280= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Asn132Ser Single submitter ⚠
p.Asp231Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Asp333= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Gln215= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Gln352Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Glu212Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Glu292= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Glu439Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Glu85= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Gly324= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.His177= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Ile276= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Ile93del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Leu134= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Leu270Phe Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related ⚠
p.Leu81= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Lys353= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Pro383Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Pro384Leu Single submitter ⚠
p.Pro416Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Ser275= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Ter452Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Thr27Pro Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related ⚠
p.Thr316= Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
p.Tyr226Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Tyr409Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Val120= Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
p.Val191Ile Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Val287Ile Single submitter ⚠
p.Val305= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Val87= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U

Benign 59

c.1026+45_1026+46del Multiple submitters
c.1251+18C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U
c.1251+50A>G Multiple submitters
c.534+13T>A Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related
c.685-25GTT[6] Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U
c.789+89A>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.836-19dup Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.*321A>G Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*34C>G Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*60G>A Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related
p.Ala136Val Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related
p.Gln242= Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related
p.Ser19Arg Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related
c.1026+107A>C Single submitter
c.1026+111A>G Single submitter
c.1120-12del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.1120-334C>T Single submitter
c.1251+89T>A Single submitter
c.257+156A>G Single submitter
c.257+164T>C Single submitter
c.257+203C>G Single submitter
c.258-125T>A Single submitter
c.534+13dup Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.685-275dup Single submitter
c.789+117T>A Single submitter
c.789+321T>A Single submitter
c.789+57T>G Single submitter
c.835+227A>G Single submitter
c.836-19_836-18dup Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.933+127A>G Single submitter
c.933+87A>G Single submitter
c.934-130_934-129insA Single submitter
c.-145A>G Single submitter
c.*1043C>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*1099C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*112T>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*1677A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*1848C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*1849G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2106C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2148T>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2149A>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2167G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2181A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2276T>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2325C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2326A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2328G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2333T>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2368T>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2491C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2566A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3091C>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3475C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*4023C>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*450T>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*73TG[5] Single submitter
c.*791T>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*988G>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related

Benign/Likely benign 10

c.1251+16A>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.790-14T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U
c.836-9del Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.*86A>G Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related
p.Arg116Cys Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related ⚠
p.Arg74= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U
p.Gly23Cys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Leu407Ser Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related
p.Pro11Arg Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related
p.Thr316Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U

Likely benign 158

c.1120-20C>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.1120-291C>T Multiple submitters
c.1252-46G>A Multiple submitters
c.684+12G>C Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.684+164G>C Multiple submitters
c.685-78G>T Multiple submitters
c.836-16T>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U
c.836-83A>G Multiple submitters
c.*2304A>G Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related
p.Asn390= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U
p.Cys198= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U
p.Ser129= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U
c.1026+15A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
c.1026+17G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.1027-18A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.1119+13A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.1119+19G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.1119+20A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.1120-12T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.1120-132G>T Single submitter
c.1120-17T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
c.1120-297C>G Single submitter
c.1120-4G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.1120-7T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.1251+17T>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.1251+19T>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.1251+252G>A Single submitter
c.1251+7A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
c.1251+9A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.257+10C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.257+11G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.257+13C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.257+16G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.257+17C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.257+17C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.257+7C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
c.257+8G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.258-17A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.258-18C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.258-19A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.258-8C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.534+18A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.535-132_535-129del Single submitter
c.535-173dup Single submitter
c.535-20T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.535-218G>T Single submitter
c.535-268T>A Single submitter
c.535-279dup Single submitter
c.535-295A>G Single submitter
c.684+11G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.684+13G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.684+14C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
c.684+16T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.685-19del Single submitter
c.685-254T>C Single submitter
c.685-25GTT[3] Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.685-25GTT[4] Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.789+10A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
c.789+13A>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.789+276C>T Single submitter
c.789+89A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
c.835+14T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.836-11T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.836-15T>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.836-16_836-15insC Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.836-277C>G Single submitter
c.836-6T>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.933+10C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.933+207C>A Single submitter
c.933+223C>T Single submitter
c.934-16T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
c.934-182_934-180del Single submitter
c.934-210A>T Single submitter
c.934-4C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
c.934-52T>G Single submitter
c.934-6T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
c.934-9T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.-21C>T Single submitter
c.*1470T>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*1855G>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2119C>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2155A>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2197G>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2351C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2369_*2379TA[3]CGTACACATACACACATATATGTATATACGTAC[1] Single submitter
c.*2488G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2981C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3087G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3254C>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3284A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3374C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
p.Ala136= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Ala195= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Ala206= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Ala272= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Ala36= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Ala398= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Ala398= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Ala96= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Arg10= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Arg128= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Arg207= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Arg440= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Asp140= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Asp25= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Cys364= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Gln283= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Gln423= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Gln82= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Glu303= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Glu389= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Gly15= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Gly237= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Gly321= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Gly41= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Gly446= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.His127= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Ile109= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Ile117= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Ile77= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Leu137= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Leu218= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Leu241= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Leu245= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Leu327= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Leu332= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Leu407= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Leu412= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Leu84= Single submitter
p.Lys296= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Phe131= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Phe219= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Phe376= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Pro14= Single submitter
p.Pro259= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Pro384= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Ser147= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Ser202= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Ser282= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Ser317= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Ser385= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Ser435= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Thr80= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Tyr223= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Tyr336= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Val166= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Val187= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Val190= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Val255= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Val287= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Val288= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Val313= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Val315= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Val339= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Val339= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Val374= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Val382= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Val401= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Uncertain significance 357

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

c.1119+3A>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.1251+4G>A Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related
c.258-3T>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U
c.*2235A>C Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2237A>G Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2248C>T Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2263A>C Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2265A>G Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2310A>G Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2336G>A Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2380G>A Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related
p.Ala272Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Ala398Thr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Ala434Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Ala83Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Ala83Val Multiple submitters ⚠
p.Arg116His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Arg126Gly Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Arg209Thr Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related ⚠
p.Arg280Ile Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Arg74Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Asn337Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Asp196Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Asp294Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Asp378Gly Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related ⚠
p.Asp418Gly Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related ⚠
p.Gln283Glu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Gln329Lys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Gln349Lys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Gln428Lys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Gln67Pro Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Gln82Arg Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Glu103Lys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Glu121Gly Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Glu121Lys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Glu239Lys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Glu39Asp Multiple submitters ⚠
p.Glu85Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Gly178Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Gly299Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Gly299Cys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Gly54Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.His26Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.His297Pro Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.His300Arg Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.His312Arg Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.His326Gln Multiple submitters ⚠
p.His43Gln Multiple submitters ⚠
p.Ile142Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Ile183Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Ile276Thr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Ile330Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Ile331Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Ile406Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Ile71Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Ile93Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Leu137Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Leu199Phe Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related ⚠
p.Leu327Val Multiple submitters ⚠
p.Leu32Pro Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Leu408Phe Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Leu412Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Leu76Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Lys246Arg Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Lys267Ile Multiple submitters ⚠
p.Lys387Asn Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Met105Ile Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Pro193Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Pro214Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Pro214Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Pro259Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Pro5Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Pro65Thr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Ser107Ile Multiple submitters Congenital Muscular Dystrophy, alpha-dystroglycan related ⚠
p.Thr238Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Thr238Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Thr291Ile Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Thr291Lys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Tyr201Phe Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Tyr232Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Val305Gly Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
c.1026+10T>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.1026+1G>T Single submitter
c.1026+5G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.1027-7C>T Single submitter
c.1120-3C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
c.1251+2T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.1252-3C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.685-3C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.789+89_789+90delinsGA Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.933+5G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.934-14T>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
c.*1080G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*1146G>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*1148A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*1148A>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*1357A>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*1365C>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*1442G>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*1518C>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*151G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*1704C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*1742A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*1801A>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*1812C>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*1848C>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2030A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2048G>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2088C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2089C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2110C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2133A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2211G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2220T>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2225A>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2225A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2243_*2244del Single submitter
c.*2250C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2251G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2279G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2302A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2308A>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2313C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2349T>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2352G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2379C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2383T>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*239G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2403C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2404G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2408G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2432G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2459C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2464G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2465C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2512A>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2518G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2519T>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2522G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2635A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2759G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2775G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2801T>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*283G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2915A>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*2926A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3025C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*303G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3075C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3076G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3121A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3123C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3133G>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3139A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3146G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3161T>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3187G>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3189G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3191C>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3196C>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3217G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3261A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3281_*3282dup Single submitter
c.*3283G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3287G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3362C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3395A>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3457G>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3491G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3525T>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*354T>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3550G>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3561A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*362G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3792A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*3806C>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*4000G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*4010G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*4023C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*4069C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*4092A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*4116A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*414T>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*4159T>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*465T>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*509A>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*517G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*520C>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*584T>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*62G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*686G>T Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*767T>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*76G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*831C>G Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*884G>A Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
c.*940A>C Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
p.Ala138Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Ala138Val Single submitter ⚠
p.Ala179Glu Single submitter ⚠
p.Ala180= Single submitter
p.Ala182Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Ala210Thr Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related ⚠
p.Ala216Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Ala225Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Ala24Pro Single submitter ⚠
p.Ala28Thr Single submitter ⚠
p.Ala430Val Single submitter ⚠
p.Ala451Gly Single submitter ⚠
p.Ala451Ser Single submitter ⚠
p.Ala48Thr Single submitter ⚠
p.Ala49Val Single submitter ⚠
p.Ala96Val Single submitter ⚠
p.Ala9Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Arg10Trp Single submitter ⚠
p.Arg116Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Arg116Pro Single submitter ⚠
p.Arg126Leu Single submitter ⚠
p.Arg128Gly Single submitter ⚠
p.Arg128Thr Single submitter ⚠
p.Arg184Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Arg205Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Arg268Gln Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Arg395Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Arg427Lys Single submitter ⚠
p.Arg42Cys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Arg74Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Arg74Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Arg86Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Asn101Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Asn132Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Asn337His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Asp200Asn Single submitter ⚠
p.Asp220Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Asp220His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Asp231His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Asp260Gly Single submitter ⚠
p.Asp269Glu Single submitter ⚠
p.Asp290Asn Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Asp290Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Asp333Glu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Asp347Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Asp378Glu Single submitter ⚠
p.Asp418His Single submitter ⚠
p.Asp418Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Cys229Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Cys286Ser Single submitter ⚠
p.Cys88Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Gln215Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Gln328His Single submitter ⚠
p.Gln447Glu Single submitter ⚠
p.Gln67His Single submitter ⚠
p.Gln82Pro Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Glu176Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Glu212Ala Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Glu212Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Glu274Asp Single submitter ⚠
p.Glu292Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U
p.Glu303Gln Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Glu39Gln Single submitter ⚠
p.Glu403fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Glu424Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Glu58Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Gly123Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Gly15Ala Single submitter ⚠
p.Gly178= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
p.Gly178Ala Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Gly20Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Gly237Glu Single submitter ⚠
p.Gly23Arg Single submitter ⚠
p.Gly41Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Gly54Arg Single submitter ⚠
p.Gly54Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Gly61Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Gly7Asp Single submitter ⚠
p.His155Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.His177Tyr Single submitter ⚠
p.His208Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Ile109del Single submitter
p.Ile142Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Ile285Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Ile330Leu Single submitter ⚠
p.Ile331Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Ile331Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Ile437Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Ile450Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Leu119Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Leu186Val Single submitter ⚠
p.Leu234Phe Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related ⚠
p.Leu243Phe Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Leu243Val Single submitter ⚠
p.Leu302Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type 2U ⚠
p.Leu377Val Single submitter ⚠
p.Leu408Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Leu436Ser Single submitter ⚠
p.Leu449= Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related
p.Lys111Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ⚠
p.Lys148Gln Single submitter Congenital Muscular Dystrophy, alpha-dystroglycan related ⚠
p.Lys175Thr Single submitter ⚠
p.Lys251Arg Single submitter ⚠
p.Lys314Glu Single submitter ⚠