Sugi Variant

Sugi Variant/DAG1

DAG1 — 733 ClinVar variants

All ClinVar germline DAG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 431 flagged for review →

10 Pathogenic · 12 Likely pathogenic · 54 Conflicting · 23 Benign · 6 Benign/Likely benign · 178 Likely benign · 450 Uncertain significance

Full DAG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 431

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 8

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 243

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 243

Predictors split 178

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 178

All DAG1 variants

Pathogenic 10

  • p.Ser14Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P
  • c.285+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Arg79Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Gln147fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Gln206fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Glu352fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Leu306fs Single submitter DAG1-related disorder
  • p.Phe591fs Single submitter
  • p.Trp110Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ala248fs No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Likely pathogenic 12

  • p.Arg428Ter Single submitter
  • p.Glu186Ter Single submitter
  • p.Leu104fs Single submitter
  • p.Phe152fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Phe241fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Pro867fs Single submitter
  • p.Ser14fs Single submitter
  • p.Thr421fs Single submitter
  • p.Trp297Ter Single submitter
  • p.Ala38fs No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Leu86fs No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Pro280fs No assertion criteria Elevated circulating creatine kinase activity

Conflicting classifications of pathogenicity 54

  • c.286-5T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ala170= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ala184= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ala417= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ala731Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ala771= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ala860= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ala98= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Arg309= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Arg402= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Arg739fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Arg776Cys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Arg854Gln Single submitter Inborn genetic diseases ⚠
  • p.Asn694= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Asp805= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Cys669Phe Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Gln268= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Glu59Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Gly491Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Gly547= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.His573= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ile655= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ile681= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ile93Thr Single submitter Inborn genetic diseases ⚠
  • p.Leu564Ile Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Leu751= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Leu783= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Leu817= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Leu86Phe Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Lys625= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Phe591= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Phe635= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Pro158Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Pro245= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Pro565= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Pro616= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Pro728= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Pro732= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ser166= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ser179= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ser239= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Thr124= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Thr341Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr404= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Thr436= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Thr706Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr708= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Thr708Met Single submitter Inborn genetic diseases ⚠
  • p.Thr851= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Thr884= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Val5= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Val61= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Val73= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Val74= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P

Benign 23

  • c.285+42T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P
  • c.286-135G>A Multiple submitters
  • c.-116-291T>C Multiple submitters
  • c.-117+1024T>G Multiple submitters
  • c.-117+16912G>C Multiple submitters
  • c.-117+18096G>T Multiple submitters
  • c.-117+18178A>T Multiple submitters
  • c.-136G>A Multiple submitters
  • c.*250T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ala757= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.His752= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ser14= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ser14Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ser567= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ser744Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Val128= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • c.-116-4dup Single submitter
  • c.-117+17230A>G Single submitter
  • c.-117+18092T>C Single submitter
  • c.-117+18434C>T Single submitter
  • c.-320dup Single submitter
  • c.-332dup Single submitter
  • p.Thr203Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P

Benign/Likely benign 6

  • c.286-10del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Asp111Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ile87Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Thr200Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Thr840= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Val411= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Likely benign 178

  • c.286-49G>A Multiple submitters
  • c.*294G>T Multiple submitters
  • p.Arg679His Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Asp802= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ile338= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ser134= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ser558= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Thr71= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Thr81= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Thr870= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Tyr410= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Val429= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Val595= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • c.285+7C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • c.286-14del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • c.286-15T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • c.286-17G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • c.286-333G>C Single submitter
  • c.286-4C>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • c.286-4del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • c.286-9C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • c.-117+18178del Single submitter
  • c.-117+6669A>G Single submitter
  • c.-130C>T Single submitter
  • c.-24G>T Single submitter
  • c.-34C>T Single submitter
  • p.Ala140= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ala183= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ala197= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ala281= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ala285= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ala323= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ala604= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ala636= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ala72= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ala731= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ala88= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Arg215= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Arg371= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Arg454= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Arg461= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Arg652= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Arg79= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Arg887= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Asn141= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Asp111= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Asp440= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Asp532= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Asp738= Single submitter
  • p.Cys774= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Gln559= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Glu333= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Glu412= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Glu515= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Glu548= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Glu730= Single submitter
  • p.Glu856= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Gly15= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Gly284= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Gly296= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Gly374= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Gly383= Single submitter
  • p.Gly394= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Gly490= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Gly584= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Gly601= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Gly614= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Gly686= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Gly781= Single submitter
  • p.His161= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.His212= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.His502= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.His58= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.His594= Single submitter
  • p.Ile145= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ile154= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ile208= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ile299= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ile314= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ile331= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ile674= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ile763= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ile818= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ile87= Single submitter
  • p.Leu117= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Leu13= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Leu138= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Leu19= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Leu21= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Leu211= Single submitter
  • p.Leu258= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Leu262= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Leu54= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Leu620= Single submitter
  • p.Leu664= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Leu677= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Leu7= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Leu765= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Leu826= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Leu842= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Leu853= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Lys426= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Lys452= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Lys533= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Lys611= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Lys631= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Lys794= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Phe152= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Phe523= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Phe554= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Phe608= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Pro174= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Pro229= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Pro342= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Pro350= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Pro361= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Pro408= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Pro476= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Pro493= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Pro519= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Pro605= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Pro670= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Pro756= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Pro811= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Pro825= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Pro827= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Pro837= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Pro852= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Pro866= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Pro867= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Pro889= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ser153= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ser259= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ser270= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ser344= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ser36= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ser441= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ser467= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ser49= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ser568= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ser654= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ser710= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ser744= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ser8= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ser813= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ser835= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Thr192= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Thr200= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Thr317= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Thr322= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Thr328= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Thr367= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Thr395= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Thr406= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Thr431= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Thr439= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Thr442= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Thr443= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Thr463= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Thr464= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Thr484= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Thr784= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Thr790= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Tyr157= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Tyr831= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Val177= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Val178= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Val25= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Val251= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Val295= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Val358= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Val459= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Val552= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Val613= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Val727= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Val760= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Val796= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Val893= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P

Uncertain significance 450

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

  • p.Ala135Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Ala135Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ala279Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala285Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ala285Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala610Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala675Thr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Ala695Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala789Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala871Val Multiple submitters Inborn genetic diseases ⚠
  • p.Arg137Gly Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Arg215Gln Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Arg215Trp Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Arg311Gln Multiple submitters myopathy ⚠
  • p.Arg311Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Arg371Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg402His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg402Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg428Gln Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Arg454Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg457Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg461Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg479His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg481Pro Multiple submitters ⚠
  • p.Arg489His Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Arg496Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Arg541Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg598Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg598His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg640Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Arg652Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg652Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg652Trp Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan ⚠
  • p.Arg679Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg680Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg689Trp Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Arg714Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg714Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Arg76His Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Arg779Trp Multiple submitters ⚠
  • p.Arg879Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg879His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg887Trp Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Asn232Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Asn247Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Asn301Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn859Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Asp684Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Asp747Val Multiple submitters Inborn genetic diseases ⚠
  • p.Asp806Asn Multiple submitters ⚠
  • p.Cys642Tyr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Gln147Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln600Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln673Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Gln673Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Glu155Lys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Glu515Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu592Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Gly142Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly175Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Gly394Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly676Arg Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Gly768Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Gly91Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.His129Tyr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.His212Asn Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Ile208Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile324Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ile324Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile468Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile503Thr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Ile769Met Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Ile798Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile82Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Leu540Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu54Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Leu765Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Lys205Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Lys572Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Lys609Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys626del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Lys631Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Met238Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met405Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Met50Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Met577Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Met873Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Met883Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Phe700Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Pro158Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Pro229Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Pro272Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro280Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Pro304Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Pro307Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro349Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro398Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro427Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Pro519Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro616Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro62Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro690Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro724Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Pro732Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Pro741Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Pro756Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Pro811Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro828Thr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Pro829Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro837Arg Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Pro852Ala Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Pro867Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Ser106Phe Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ser166Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ser179Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ser180Phe Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ser336Phe Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Ser441Pro Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Ser485Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ser558Ile Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Ser586Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Ser586Pro Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Ser77Pro Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Ser8Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser90Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Thr322Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Thr351Ala Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Thr369Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Thr396Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr404Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr414Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Thr436Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Thr436Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Thr444Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Thr478Ala Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Thr512Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Thr531del Multiple submitters
  • p.Thr63Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr71Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Thr846Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Trp31Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Tyr524Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Tyr892Cys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Val178Leu Multiple submitters ⚠
  • p.Val190Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Val220Ala Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Val277Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Val339Met Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Val570Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val656Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val65Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val736Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Val749Ile Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Val74Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • c.285+1dup Single submitter
  • c.286-1_287del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • c.-117+1G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • c.*9C>T Single submitter
  • p.317TP[1] Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ala184Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ala243Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ala279Gly Single submitter ⚠
  • p.Ala27Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ala300Thr Single submitter ⚠
  • p.Ala316Gly Single submitter ⚠
  • p.Ala323Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ala348Val Single submitter Inborn genetic diseases ⚠
  • p.Ala417Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala606Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ala60Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala628_Leu629delinsAspPhe Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Ala628Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ala682Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ala691Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Ala757Val Single submitter ⚠
  • p.Ala860Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ala98Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ala99Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg137Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg137Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg215Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg282Met Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg2Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Arg2Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg359Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Arg373Gln Single submitter ⚠
  • p.Arg389Gln Single submitter ⚠
  • p.Arg389Trp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Arg402Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg454fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Arg457Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg457Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg461Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg470Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Arg481Cys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Arg489fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Arg496Cys Single submitter ⚠
  • p.Arg496His Single submitter Inborn genetic diseases ⚠
  • p.Arg505Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Arg541Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg603Gly Single submitter ⚠
  • p.Arg603Lys Single submitter ⚠
  • p.Arg640Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg640Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Arg680Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg680Trp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Arg714Trp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Arg725Met Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg76Cys Single submitter ⚠
  • p.Arg776Gly Single submitter ⚠
  • p.Arg776His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg779Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Arg854Trp Single submitter ⚠
  • p.Arg879Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg887Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Asn555Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn641Ile Single submitter Inborn genetic diseases ⚠
  • p.Asn649Ser Single submitter ⚠
  • p.Asn661Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Asn661Ile Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Asn662Ser Single submitter ⚠
  • p.Asn662Thr Single submitter ⚠
  • p.Asn694Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Asn859His Single submitter ⚠
  • p.Asn882Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Asp125Glu Single submitter ⚠
  • p.Asp196Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Asp41Glu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Asp566Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp602Asn Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Asp615His Single submitter Inborn genetic diseases ⚠
  • p.Asp639Asn Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Asp639His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Asp855His Single submitter Inborn genetic diseases ⚠
  • p.Gln400His Single submitter Inborn genetic diseases ⚠
  • p.Gln45Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln600His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Gln864Ter Single submitter
  • p.Glu412Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Glu492Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Glu498del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Glu548Lys Single submitter ⚠
  • p.Glu574Lys Single submitter ⚠
  • p.Glu59Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Glu667Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Glu667Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Glu735Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Glu803Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu821Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu838Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Glu849Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Gly119Val Single submitter ⚠
  • p.Gly142Glu Single submitter ⚠
  • p.Gly15Trp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Gly175Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Gly276Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Gly409Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly409Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Gly511Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Gly547Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Gly547Cys Single submitter ⚠
  • p.Gly563Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Gly583Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Gly584fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Gly584Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Gly601Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Gly601Glu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Gly653Val Single submitter Inborn genetic diseases ⚠
  • p.Gly70= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • p.Gly709fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Gly781Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Gly877Ser Single submitter ⚠
  • p.Gly877Val Single submitter Inborn genetic diseases ⚠
  • p.Gly91Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.His161Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.His161fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.His30Asp Single submitter Inborn genetic diseases ⚠
  • p.His315Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.His315Gln Single submitter ⚠
  • p.His51Gln Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.His569Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.His58Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.His596Arg Single submitter Inborn genetic diseases ⚠
  • p.Ile154Met Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ile274Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Ile314fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P
  • p.Ile338Val Single submitter Inborn genetic diseases ⚠
  • p.Ile347Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 ⚠
  • p.Ile376Val Single submitter Inborn genetic diseases ⚠
  • p.Ile377Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ile518Asn Single submitter ⚠
  • p.Ile674Met Single submitter ⚠
  • p.Ile681Phe Single submitter ⚠
  • p.Ile719Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Ile770Val Single submitter ⚠
  • p.Ile773Met Single submitter ⚠
  • p.Leu11Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠
  • p.Leu122Arg Single submitter ⚠
  • p.Leu191Trp Single submitter ⚠
  • p.Leu19Phe Single submitter autosomal recessive limb-girdle muscular dystrophy type 2P ⚠