Sugi Variant

Sugi Variant/POMT1

POMT1 — 1246 ClinVar variants

All ClinVar germline POMT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 369 flagged for review →

81 Pathogenic · 38 Pathogenic/Likely pathogenic · 68 Likely pathogenic · 93 Conflicting · 67 Benign · 22 Benign/Likely benign · 453 Likely benign · 424 Uncertain significance

Full POMT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 369

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

Predictors agree, ClinVar conflicts 17

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

Predictors lean, ClinVar uncertain 276

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 276

Predictors split 76

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

All POMT1 variants

Pathogenic 81

  • c.1175+1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1272+1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.280+1G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Arg243Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Arg492Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Arg598Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Arg600Ter Multiple submitters POMT1-related disorder
  • p.Asp701fs Multiple submitters muscular dystrophy-dystroglycanopathy, type C
  • p.Gln281Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Gln363Ter Multiple submitters POMT1-related disorder
  • p.Gln419Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Gln57Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Gly65Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Ser97fs Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Trp464Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Tyr211Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Tyr493Ter Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • c.427+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.605+1G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.699+46C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.700-2A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Arg713_Trp714insTer Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Asn144fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asn556fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Asp716fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Cys199fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Cys238fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gln177Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Gln380fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Gln49fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Gln651Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Gln672fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Glu143Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Glu405fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gly287fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Gly3Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Gly473Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Gly618fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gly624fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.His402fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ile147fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Ile203fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Leu155fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu231fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Leu240fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Leu31fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Leu364fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Leu440_Ser441insTer Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu440fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Leu87fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Met25fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Phe347fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Phe640fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Phe82fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Pro706fs Single submitter
  • p.Ser129fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ser705fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Thr148Asn Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Thr325fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Thr387fs Single submitter
  • p.Trp186Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Trp187fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Trp32fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Trp354Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Trp464fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Trp486Ter Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Tyr260Ter Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Tyr326Ter Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Tyr412Ter Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Tyr493fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Tyr54delinsPhePhePhePhePheXaaXaaXaaXaaHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Val20fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Val365fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Val395fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Val40fs Single submitter Dysgenesis of the cerebellar vermis
  • p.Val603fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.1175+3del No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Ala682fs No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Asn144Asp No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Leu399del No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Met140del No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Pathogenic/Likely pathogenic 38

  • c.1175+2dup Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.1176-2A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1272+2T>C Multiple submitters myopathy caused by variation in POMT1
  • c.1698+1G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.2004-1G>C Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.427+1_427+2insA Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.429_430del Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.605+1G>C Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.986+1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ala200Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ala647Thr Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Arg105Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Arg334Ter Multiple submitters POMT1-related disorder
  • p.Arg33Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Asn428fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Gln339Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Gln404Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Gln660fs Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Glu44Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Glu44Lys Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Gly76Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Gly92fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ile557fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ile575fs Multiple submitters POMT1-related disorder
  • p.Leu138_Leu139insTer Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Leu263fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Leu399fs Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Leu454Ter Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Leu553fs Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Leu697fs Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Lys455fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Phe162fs Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Phe60del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Pro509fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Thr433fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Trp88Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Tyr54Ter Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Val681fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K

Likely pathogenic 68

  • c.229+2T>C Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.428-2A>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Arg105His Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Asn517fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Leu192fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Leu518_Arg523delinsTer Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Phe259del Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Thr35fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.1175+1G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1272+2dup Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.1273-2A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1584+1G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1585-2A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1699-1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1825+2T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.2004-1_2005del Single submitter
  • c.229+1G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.230-2A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.230-2A>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.428-1G>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.539+2T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.699+67del Single submitter
  • c.856-2A>G Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.987-1G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.987-2A>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.987-2A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.99_122+1dup Single submitter POMT1-related disorder
  • p.Arg601Thr Single submitter POMT1-related disorder
  • p.Asp62fs Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Cys621fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Gln608fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Glu405Val Single submitter
  • p.Glu489fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Glu94Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Gly479fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.His130fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.His661fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Ile329_Tyr330insTer Single submitter POMT1-related disorder
  • p.Ile587fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Leu231Ter Single submitter
  • p.Leu256Ter Single submitter
  • p.Leu518fs Single submitter
  • p.Leu709Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Lys172fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Lys715_Asp719delinsAsn Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Lys715fs Single submitter
  • p.Phe633_Leu634insTer Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Phe640_Leu641del Single submitter
  • p.Ser674fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Thr193fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Thr343fs Single submitter
  • p.Thr638fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Trp223Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Trp2Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Trp353Ter Single submitter
  • p.Trp464Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Trp464Cys Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Trp578Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Trp594Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Trp714fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Tyr330Ter Single submitter POMT1-related disorder
  • p.Tyr36fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Tyr409Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Tyr47Ter Single submitter Inborn genetic diseases
  • p.Tyr642Cys Single submitter ⚠
  • p.Val195fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Val382fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Val453Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Conflicting classifications of pathogenicity 93

  • c.1083-7C>G Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1175+4_1175+7del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.122+5G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.123-6T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1365+15C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1486+10C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1486+14G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1486+9G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1487-5G>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1698+10C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1698+6C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1825+6T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.2003+9G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.280+7_280+8del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.281-5T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.427+8C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.606-15G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.699+24C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.699+62del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.699+66G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.699+67dup Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.699+67G>A Single submitter POMT1-related disorder
  • c.699+67G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.699+68T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.699+72T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.855+6T>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.986+9A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.-30G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*25C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*338T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*635T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ala196Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Ala282= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ala495= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ala687= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Arg444Cys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ⚠
  • p.Arg500Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Arg600Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Asn163Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Asn233del Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asn309= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Asn487= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asp14= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Asp324Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp43= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Gln568His Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Glu526Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Glu549= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Gly376Arg Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gly700Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.His338= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.His383= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.His481= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.His689= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ile142= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ile557= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ile662= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Leu104= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Leu110= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Leu19= Single submitter
  • p.Leu190= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Leu527= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu583= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu641Phe Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Leu645= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Phe82= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Pro251Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Pro327Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Pro398= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Pro631Leu Single submitter POMT1-related disorder ⚠
  • p.Pro66Arg Single submitter POMT1-related disorder ⚠
  • p.Pro66Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Ser115= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ser283Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser367= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ser400= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ser441= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ser483Asn Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ser496= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ser582= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ser677= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ser686= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ter726= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Trp714Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Tyr326Cys Single submitter POMT1-related congenital myopathy ⚠
  • p.Tyr47= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Tyr699= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Tyr699Ter Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Val10= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Val435Ile Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Val453Ile Single submitter Inborn genetic diseases ⚠
  • p.Val576Ala Single submitter Inborn genetic diseases ⚠
  • p.Val72Leu Single submitter Inborn genetic diseases ⚠

Benign 67

  • c.1082+16G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.1083-180G>A Multiple submitters
  • c.1083-253T>C Multiple submitters
  • c.1083-262T>C Multiple submitters
  • c.1083-64C>T Multiple submitters
  • c.123-5dup Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.123-6_123-5dup Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • c.1273-70C>T Multiple submitters
  • c.1366-61A>G Multiple submitters
  • c.1487-130A>G Multiple submitters
  • c.1487-164G>A Multiple submitters
  • c.1487-166G>A Multiple submitters
  • c.1698+107C>A Multiple submitters
  • c.1698+48C>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.1699-339A>G Multiple submitters
  • c.1825+19del Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • c.2003+13C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.2004-70C>T Multiple submitters
  • c.280+271G>A Multiple submitters
  • c.281-199G>A Multiple submitters
  • c.281-82C>T Multiple submitters
  • c.428-21T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.539+104A>G Multiple submitters
  • c.539+91C>T Multiple submitters
  • c.699+53= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.699+53A>G Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • c.700-48A>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.855+175G>A Multiple submitters
  • c.855+225A>G Multiple submitters
  • c.856-299T>A Multiple submitters
  • c.856-49T>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.856-65G>A Multiple submitters
  • c.986+184G>A Multiple submitters
  • c.986+246G>A Multiple submitters
  • c.986+279T>C Multiple submitters
  • c.986+49G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.987-102G>A Multiple submitters
  • c.987-113C>G Multiple submitters
  • c.987-173C>T Multiple submitters
  • c.*226T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*278T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*285A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*348C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*41T>C Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.*421G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*453T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Asp349= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Glu425= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Thr292= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1083-284dup Single submitter
  • c.123-5del Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1272+183A>G Single submitter
  • c.1272+249_1272+303del Single submitter
  • c.1584+18dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1698+233C>T Single submitter
  • c.1825+198C>G Single submitter
  • c.1826-248T>C Single submitter
  • c.1826-268G>A Single submitter
  • c.427+258C>T Single submitter
  • c.428-138T>C Single submitter
  • c.428-232A>G Single submitter
  • c.428-340C>T Single submitter
  • c.605+13dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.699+80del Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.699+86C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.700-92del Single submitter
  • c.*529G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K

Benign/Likely benign 22

  • c.1175+16G>A Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • c.1585-14C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1698+11G>C Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1826-40G>A Multiple submitters
  • c.1826-6C>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1826-7C>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.2004-20C>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.699+52C>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.-6T>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ala619Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ala687Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Arg564= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Arg713Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Arg723Gln Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Asp411Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Gly26= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.His375= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ser515Arg Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Ser566= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Tyr493= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Tyr644= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Val305Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K

Likely benign 453

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

  • c.1082+45C>G Multiple submitters
  • c.1083-224G>A Multiple submitters
  • c.1175+12C>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1175+13G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1176-16G>A Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • c.122+248T>C Multiple submitters
  • c.123-14G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.123-15dup Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1272+15G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1272+84C>T Multiple submitters
  • c.1273-201C>T Multiple submitters
  • c.1365+77C>T Multiple submitters
  • c.1366-12C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1585-20A>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1699-19A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1699-7C>T Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • c.1825+18A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1825+25T>G Multiple submitters
  • c.1826-17C>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1826-7_1826-6delinsAA Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.280+31G>A Multiple submitters
  • c.281-160C>T Multiple submitters
  • c.427+12G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.539+19C>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.606-12A>G Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • c.606-9T>C Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • c.699+33G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.699+85C>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.699+85C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.700-28A>G Multiple submitters
  • c.700-30G>T Multiple submitters
  • c.987-274C>T Multiple submitters
  • c.-20T>C Multiple submitters
  • c.*206A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ala111= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ala132= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ala522= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Arg535= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Asp434= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Glu442= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.His272= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Leu138= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Leu213= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Leu307= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Phe258= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ser407= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ser451= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Ser457= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Ser539= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Thr210= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Tyr211= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Tyr260= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Val356= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1082+10G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1082+11G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1082+14_1082+33del Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1082+18G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1082+19A>G Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1082+19A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1082+9A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1083-11G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1083-13C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1083-20G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1083-4C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1175+10C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1175+14_1175+16del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1175+14C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1175+15C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1175+16G>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1175+174C>T Single submitter
  • c.1175+18C>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1175+7G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1175+98_1175+99del Single submitter
  • c.1176-16G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1176-17C>G Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1176-17C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1176-19C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.122+10A>G Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.122+13_122+20dup Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.122+14C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.122+15T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.122+7T>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.123-11T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.123-13T>G Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.123-14del Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.123-17G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.123-18del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.123-18T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.123-19T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.123-20G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.123-20G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.123-20GTT[2] Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.123-348G>C Single submitter
  • c.123-4C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.123-5T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.123-7T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1272+10G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1272+11C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1272+14C>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1272+14C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1272+17C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1272+193A>C Single submitter
  • c.1272+196C>T Single submitter
  • c.1272+214_1272+262del Single submitter
  • c.1272+249_1272+267del Single submitter
  • c.1272+254C>A Single submitter
  • c.1272+261_1272+262insCTAACACA Single submitter
  • c.1272+262_1272+263insGACACTTCCTCACACGGAGCACTTCCTCACAGGGAGCACTTCCTC Single submitter
  • c.1272+262_1272+297del Single submitter
  • c.1272+262G>C Single submitter
  • c.1272+7A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1272+8A>G Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1273-10del Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1273-15G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1273-18T>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1273-9T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1365+10C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1365+11T>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1365+14C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1365+16G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1365+9A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1366-12_1366-11dup Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1366-20C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1366-6C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1486+11G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1486+11G>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1486+12G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1486+13C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1486+18C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1486+20T>G Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1486+8C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1486+9G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1487-10G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1487-14G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1487-18C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1584+10G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1584+13C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1584+14A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1584+14del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1584+16G>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1584+18G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1584+20A>G Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1584+9C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1585-16C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1585-16CT[3] Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1585-18G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1585-19G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1585-47G>T Single submitter
  • c.1585-7G>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1698+10C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1698+11G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1698+17G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1698+7G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1698+7G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1699-10del Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1699-11T>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1699-12A>G Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1699-20C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1699-20C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1825+11C>G Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1825+12T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1825+15C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1825+17C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1825+22_1825+48del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1825+237T>C Single submitter
  • c.1825+8C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1825+9C>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1825+9C>T Single submitter
  • c.1826-10T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.1826-13C>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1826-16G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1826-4A>G Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1826-7C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.2003+10C>T Single submitter
  • c.2003+14G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.2003+17G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.2003+18A>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.2003+18A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.2003+18A>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.2003+20A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.2003+8G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.2004-10A>G Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.2004-13C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.2004-16G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.2004-18C>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.2004-18C>G Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.2004-19G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.2004-20C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.2004-4G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.2004-5T>G Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.2004-64G>T Single submitter
  • c.2004-8C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.229+12C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.229+12C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.229+14G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.229+7G>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.229+8T>G Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.229+9C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.230-16T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.230-16T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.230-17T>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.230-3C>T Single submitter
  • c.230-9_230-8del Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.280+12T>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.280+136dup Single submitter
  • c.280+16C>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.280+16C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.280+20T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.280+7G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.280+8A>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.281-16G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.281-20C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.281-285del Single submitter
  • c.281-85C>T Single submitter
  • c.281-8T>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.427+11C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.427+12G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.427+15C>G Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.427+17T>G Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.427+20C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.427+72A>T Single submitter
  • c.428-10T>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.428-11C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.428-15T>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.428-7G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.428-7G>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.428-8T>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.539+13G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.539+15G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.539+20T>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.539+20T>G Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.539+9A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.540-4C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.540-8T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.605+13C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.606-13C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.606-14T>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.606-17C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.699+18G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.699+39T>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.699+45G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.699+73G>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.699+74G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.699+75T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.699+76G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.699+81G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.699+83_699+84insAT Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.699+9T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.700-6T>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.700-7C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.855+12G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.855+13T>C Single submitter
  • c.855+17C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.855+19del Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.855+19T>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.855+20C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.855+7A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.855+8A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.856-15C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.856-16_856-14del Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.856-17T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.856-18C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.856-5C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.856-6T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.986+10T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.986+11G>A Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.986+12dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.986+14T>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.987-39C>T Single submitter
  • c.987-4A>G Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.987-5C>T Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.-30-16C>T Single submitter
  • c.-31+16C>G Single submitter
  • c.-31+228dup Single submitter
  • c.-37A>G Single submitter
  • c.*5A>G Single submitter
  • p.Ala113= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala119= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Ala136= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ala145= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Ala166= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ala196= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala200= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ala21= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Ala244= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Ala300= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ala510= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala533= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ala586= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Ala589= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Ala610= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Ala619= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ala622= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Ala647= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ala682= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Arg243= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Arg268= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg290= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Arg30= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Arg360= Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Uncertain significance 424

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

  • c.1083-9_1083-8del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1366-11G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1698+2dup Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.2003+4C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.539+3A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.699+14T>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • c.699+19T>C Multiple submitters ⚠
  • c.699+27G>A Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • c.699+32C>T Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • c.699+49A>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • c.699+64G>C Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • c.986+5G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*68C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.500_501RE[4] Multiple submitters congenital muscular dystrophy
  • p.Ala111Val Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala196Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Ala218Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ala242Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Ala242Val Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala397Asp Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Ala418Thr Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala418Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala452Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Ala495Thr Multiple submitters ⚠
  • p.Ala495Val Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala510Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala522Val Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala533Val Multiple submitters myopathy caused by variation in POMT1 ⚠
  • p.Ala558Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Ala589Thr Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala610Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Ala678Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Ala687Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala711Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Arg243Pro Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Arg268His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Arg290Trp Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Arg388Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Arg388His Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg444His Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Arg478Gln Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg478Trp Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg502Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg504Gln Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg598Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Arg599Gln Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg599Trp Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg600Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg613Cys Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg613His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Arg695Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Arg695His Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Arg713His Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg723Ter Multiple submitters Inborn genetic diseases
  • p.Asn233Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Asn233Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn351Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asp273Asn Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Asp358Glu Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Asp377Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Asp83Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Cys667Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Gln293His Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gln419dup Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Gln608Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Gly207Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Gly312Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Gly376Glu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Gly384Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Gly482Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Gly494Ser Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gly623Ser Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gly700Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.His224Gln Multiple submitters Inborn genetic diseases ⚠
  • p.His362Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.His375Gln Multiple submitters Inborn genetic diseases ⚠
  • p.His689Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Ile142Phe Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Ile142Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Ile51Phe Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ile577Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Leu226Pro Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ⚠
  • p.Leu254Arg Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Leu263Phe Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Leu284Phe Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Leu461Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu593Ser Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Leu61= Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Met134Thr Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Met153Ile Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Phe60Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Phe68Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro346Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro370Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Pro401Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Pro509Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Pro696Arg Multiple submitters ⚠
  • p.Pro8Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Ser169Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Ser18Arg Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Ser198Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Ser400Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Ser451Phe Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Ser525Leu Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ser539Leu Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ser580Leu Multiple submitters muscular dystrophy-dystroglycanopathy, type A
  • p.Ser674Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser705Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Thr191Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Thr210Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr292Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Thr484Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Trp186Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Trp187Arg Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Trp436Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr480Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr543His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Tyr588Cys Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Tyr684His Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Tyr699Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Val167Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Val167Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val212Met Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Val214Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Val214Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Val234Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Val253Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Val261Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Val310Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val373Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val448Gly Multiple submitters ⚠
  • p.Val472Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Val488Met Multiple submitters muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Val690Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Val690Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Val99Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • c.1273-11del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1273-17G>C Single submitter muscular dystrophy-dystroglycanopathy, type A
  • c.1486+3G>C Single submitter
  • c.1698+3A>G Single submitter
  • c.1699-11T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1699-7C>G Single submitter
  • c.1825+3_1825+16del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.1825+4A>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.2003+12_2003+13delinsAT Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.2003+5G>A Single submitter
  • c.2004-5T>C Single submitter
  • c.2004-9C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.427+2_427+3insTT Single submitter POMT1-related disorder
  • c.539+3A>C Single submitter
  • c.540-3C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.605+4A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.606-9T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.699+14_699+17dup Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.699+14T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • c.699+18G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • c.699+1G>A Single submitter ⚠
  • c.699+26T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • c.699+40A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • c.699+5G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • c.699+6T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • c.700-17C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • c.-15C>T Single submitter
  • c.-168G>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.-195C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.-196G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.-83C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*105G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*182T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*330G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*370C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*37G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*381G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*3del Single submitter
  • c.*448C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*591C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*613C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*614G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*64T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*693C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • c.*694G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Ala113Asp Single submitter ⚠
  • p.Ala133Ser Single submitter ⚠
  • p.Ala13Val Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala145Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Ala200Gly Single submitter ⚠
  • p.Ala21Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Ala242Ser Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala246Val Single submitter Inborn genetic diseases ⚠
  • p.Ala397Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Ala39Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Ala39Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Ala418Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Ala459Pro Single submitter ⚠
  • p.Ala495Glu Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ala510Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ⚠
  • p.Ala567Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Ala74Asp Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg151Thr Single submitter ⚠
  • p.Arg243Gln Single submitter ⚠
  • p.Arg268Ser Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg334Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg467Trp Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg502Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Arg504Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg504Trp Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg516Ser Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Arg613Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Arg668= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Asn16Ser Single submitter ⚠
  • p.Asn233Lys Single submitter ⚠
  • p.Asn391Lys Single submitter ⚠
  • p.Asn449Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Asn556Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Asp394Gly Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Asp513Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Asp513Asn Single submitter ⚠
  • p.Asp609Tyr Single submitter ⚠
  • p.Asp62Asn Single submitter ⚠
  • p.Asp664Asn Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Asp701Tyr Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Asp719Asn Single submitter Inborn genetic diseases
  • p.Cys238Arg Single submitter ⚠
  • p.Cys344Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Cys667Trp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • p.Gln229His Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gln497_Gln499del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Gln497His Single submitter ⚠
  • p.Gln499Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln528Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Gln660Arg Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gln672Arg Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Glu143Val Single submitter Inborn genetic diseases ⚠
  • p.Glu156Gln Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Glu474Asp Single submitter ⚠
  • p.Glu490Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Glu490del Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Glu498Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu503Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Glu636Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Glu708Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Gly207Cys Single submitter ⚠
  • p.Gly24Trp Single submitter
  • p.Gly287Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Gly287Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Gly294Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Gly294Ser Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Gly312= Single submitter
  • p.Gly3Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Gly458Arg Single submitter ⚠
  • p.Gly465Arg Single submitter ⚠
  • p.Gly479Ala Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Gly494= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K
  • p.Gly623Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Gly69Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Gly92Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.His130Pro Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.His221= Single submitter
  • p.His221Pro Single submitter ⚠
  • p.His272Tyr Single submitter Inborn genetic diseases ⚠
  • p.His481Asn Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.His481Tyr Single submitter ⚠
  • p.His507Gln Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.His689Arg Single submitter Inborn genetic diseases ⚠
  • p.His70Asn Single submitter ⚠
  • p.Ile147Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Ile250Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Ile329Leu Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ile355Thr Single submitter ⚠
  • p.Ile355Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Ile410Thr Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ile439Phe Single submitter ⚠
  • p.Ile557Val Single submitter ⚠
  • p.Ile569Leu Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ile575Thr Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Ile587Thr Single submitter ⚠
  • p.Ile662Asn Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • p.Ile722Val Single submitter Inborn genetic diseases ⚠
  • p.Leu110Phe Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Leu114Phe Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Leu171Arg Single submitter ⚠
  • p.Leu241Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Leu248Arg Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Leu248Pro Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ⚠
  • p.Leu256Phe Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Leu297Val Single submitter ⚠
  • p.Leu31Gln Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Leu34Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu390Met Single submitter Inborn genetic diseases ⚠
  • p.Leu424= Single submitter muscular dystrophy-dystroglycanopathy, type A
  • p.Leu440Phe Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Leu476Val Single submitter muscular dystrophy-dystroglycanopathy, type A ⚠
  • p.Leu518Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu518Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu534Pro Single submitter ⚠
  • p.Leu553Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Leu572Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2K ⚠
  • p.Leu590Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 ⚠
  • p.Leu593Phe Single submitter ⚠
  • p.Leu612Gln Single submitter ⚠