B4GAT1 — 231 ClinVar variants
All ClinVar germline B4GAT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 111 flagged for review →
2 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 7 Conflicting · 2 Benign · 2 Benign/Likely benign · 103 Likely benign · 110 Uncertain significance
Full B4GAT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 111
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
B4GAT1 p.Ala66Thr
Conflicting
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Gln62Arg
Conflicting
Single submitter
Inborn genetic diseases
-
B4GAT1 p.Thr253Ser
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 65
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
B4GAT1 p.Ala154Ser
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Ala379Gly
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Asp91Asn
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Gln194His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
B4GAT1 p.Leu113Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
B4GAT1 p.Leu356Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
B4GAT1 p.Met149Ile
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Met230Leu
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Phe328Leu
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Pro258Ala
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Pro50Ser
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Val137Met
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Val318Met
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Val81Ile
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Ala166Thr
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Ala216Pro
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Arg115Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
B4GAT1 p.Arg162His
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Arg171Pro
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Arg191Lys
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Arg263Gly
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Asn273Lys
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Asn367Ser
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Asn93Ser
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Asp169Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
B4GAT1 p.Asp169Val
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Asp227Asn
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Asp43Gly
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Asp57Ala
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Cys354Arg
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Gln280Lys
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Gln2His
Uncertain significance
Single submitter
Inborn genetic diseases
-
B4GAT1 p.Gln385Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
B4GAT1 p.Gln58Arg
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Glu172Gln
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Glu340Lys
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Glu364Lys
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Gly111Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
B4GAT1 p.Gly332Arg
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.His373Leu
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Ile197Ser
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Ile197Val
Uncertain significance
Single submitter
B4GAT1-related disorder
-
B4GAT1 p.Leu178Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
B4GAT1 p.Leu212Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
B4GAT1 p.Leu30Pro
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Lys129Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
B4GAT1 p.Phe260Leu
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- B4GAT1 p.Phe370Leu Uncertain significance Single submitter
-
B4GAT1 p.Phe400Leu
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Phe48Leu
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- B4GAT1 p.Pro173Gln Uncertain significance Single submitter
-
B4GAT1 p.Pro195Ser
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Pro327Gln
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Pro51Ser
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Pro53Ser
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Ser233Arg
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Thr337Ser
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Thr99Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
B4GAT1 p.Tyr279His
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Tyr29Asp
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Tyr45His
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Tyr5Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
B4GAT1 p.Val192Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
B4GAT1 p.Val319Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
B4GAT1 p.Val81Gly
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 42
The independent predictors disagree with each other — read with care.
-
B4GAT1 p.Ala126Val
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Ala75Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
B4GAT1 p.Arg341His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
B4GAT1 p.Arg414Cys
Uncertain significance
Multiple submitters
premature ovarian failure 16
-
B4GAT1 p.Gln26Lys
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Gly174Val
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Gly196Trp
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Ser76Gly
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Thr299Ala
Uncertain significance
Multiple submitters
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Val185Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
B4GAT1 p.Ala139Ser
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Ala190Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
B4GAT1 p.Ala223Thr
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Ala259Thr
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Ala359Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
B4GAT1 p.Ala98Thr
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Arg152Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
B4GAT1 p.Arg180Trp
Likely benign
Single submitter
Inborn genetic diseases
-
B4GAT1 p.Arg266Cys
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- B4GAT1 p.Arg303His Uncertain significance Single submitter
-
B4GAT1 p.Arg414Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
B4GAT1 p.Arg83Met
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Arg8Trp
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Asn204Lys
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- B4GAT1 p.Asn390Asp Likely pathogenic Single submitter
-
B4GAT1 p.Asp74Asn
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Cys146Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
B4GAT1 p.Glu403Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- B4GAT1 p.Gly235Glu Uncertain significance Single submitter
-
B4GAT1 p.Leu27Met
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Leu291Trp
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Leu366Met
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Met230Val
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Phe382Leu
Conflicting
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Pro119Thr
Conflicting
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Pro160Ala
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Pro384Arg
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Ser76Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
B4GAT1 p.Tyr222Cys
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Tyr397Cys
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Val281Gly
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
-
B4GAT1 p.Val319Leu
Uncertain significance
Single submitter
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
All B4GAT1 variants
Pathogenic 2
- p.Tyr288Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Glu403Ter No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
Pathogenic/Likely pathogenic 1
- p.Glu274fs No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
Likely pathogenic 4
- p.Ala406Val Single submitter ⚠
- p.Asn390Asp Single submitter ⚠
- p.Asn393del Single submitter
- p.Asp229fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
Conflicting classifications of pathogenicity 7
- c.1056+6C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Ala316= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Ala66Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Gln62Arg Single submitter Inborn genetic diseases ⚠
- p.Phe382Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Pro119Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Thr253Ser Single submitter Inborn genetic diseases ⚠
Benign 2
Benign/Likely benign 2
Likely benign 103
- p.Gln402= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.His100= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.His156= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Phe125= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Pro170= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Pro308= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Pro384= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Val59= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- c.1056+11G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- c.1056+15G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- c.1056+17G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- c.1056+7A>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- c.1057-13T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- c.1057-19C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- c.1057-20A>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- c.1057-6C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- c.-13A>C Single submitter
- c.-15C>G Single submitter
- c.-18C>T Single submitter
- c.*193C>T Single submitter
- p.Ala10= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Ala166= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Ala200= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Ala23= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Ala259= Single submitter
- p.Ala331= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Ala359= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Ala379= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Ala68= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Arg171= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Arg180Trp Single submitter Inborn genetic diseases ⚠
- p.Arg285= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Arg349= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Arg414= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Arg54= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Arg64= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Arg80= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Asn210= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Asp104= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Asp229= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Cys354= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Gln194= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Gln296= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Gln44= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Gln62= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Glu114= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Glu403= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Gly235= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Gly239= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Gly252= Single submitter
- p.Gly282= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Gly290= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Gly70= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.His108= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.His392= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Ile226= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Leu109= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Leu120Met Single submitter
- p.Leu134= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Leu157= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Leu178= Single submitter
- p.Leu19= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Leu201= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Leu240= Single submitter
- p.Leu27= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Leu307= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Leu33= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Leu36= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Leu97= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Lys374= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Met24Ile Single submitter Inborn genetic diseases
- p.Phe260= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Phe287= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Phe328= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Pro147= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Pro160= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Pro208= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Pro315= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Pro51= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Pro51Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Ser110= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Ser121= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Ser123= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Ser52= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Thr299= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Thr337= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Thr65= Single submitter
- p.Thr99= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Tyr12= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Tyr140= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Tyr163= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Tyr279= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Tyr289= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Tyr317= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Tyr345= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Tyr79= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Val192= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Val225= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Val257= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Val276= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Val284= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Val358= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Val372= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
Uncertain significance 110
- p.Ala126Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Ala154Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Ala379Gly Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Ala75Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg341His Multiple submitters Inborn genetic diseases ⚠
- p.Arg414Cys Multiple submitters premature ovarian failure 16 ⚠
- p.Asp91Asn Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Gln194His Multiple submitters Inborn genetic diseases ⚠
- p.Gln26Lys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Gly174Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Gly196Trp Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Leu113Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu356Pro Multiple submitters Inborn genetic diseases ⚠
- p.Met149Ile Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Met230Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Phe328Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Pro258Ala Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Pro50Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Ser76Gly Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Thr299Ala Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Val137Met Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Val185Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val318Met Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Val81Ile Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Ala139Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Ala166Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Ala190Pro Single submitter Inborn genetic diseases ⚠
- p.Ala216Pro Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Ala223Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Ala259Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Ala359Val Single submitter Inborn genetic diseases ⚠
- p.Ala98Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Arg115Leu Single submitter Inborn genetic diseases ⚠
- p.Arg152Gly Single submitter Inborn genetic diseases ⚠
- p.Arg162His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Arg171Pro Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Arg191Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Arg263Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Arg266Cys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Arg303His Single submitter ⚠
- p.Arg413fs Single submitter
- p.Arg414Ser Single submitter Inborn genetic diseases ⚠
- p.Arg83Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Arg8Trp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Asn204Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Asn273Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Asn367Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Asn93Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Asp169Glu Single submitter Inborn genetic diseases ⚠
- p.Asp169Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Asp227Asn Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Asp43Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Asp57Ala Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Asp74Asn Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Cys146Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys354Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Gln13Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Gln280Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Gln2His Single submitter Inborn genetic diseases ⚠
- p.Gln385Lys Single submitter Inborn genetic diseases ⚠
- p.Gln58Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Glu172Gln Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Glu340Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Glu364Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Glu364Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Glu403Lys Single submitter Inborn genetic diseases ⚠
- p.Gly111Ser Single submitter Inborn genetic diseases ⚠
- p.Gly235Glu Single submitter ⚠
- p.Gly332Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.His373Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Ile197Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Ile197Val Single submitter B4GAT1-related disorder ⚠
- p.Leu178Val Single submitter Inborn genetic diseases ⚠
- p.Leu179Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Leu212Pro Single submitter Inborn genetic diseases ⚠
- p.Leu27Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Leu291Trp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Leu30Pro Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Leu366Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Lys129Arg Single submitter Inborn genetic diseases ⚠
- p.Met1Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Met230Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Phe260Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Phe370Leu Single submitter ⚠
- p.Phe400Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Phe48Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Pro160Ala Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Pro173Gln Single submitter ⚠
- p.Pro195Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Pro327Gln Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Pro384Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Pro51Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Pro53Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Ser233Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Ser76Asn Single submitter Inborn genetic diseases ⚠
- p.Thr299del Single submitter
- p.Thr337Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Thr99Arg Single submitter Inborn genetic diseases ⚠
- p.Trp250fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- p.Tyr222Cys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Tyr279His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Tyr29Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Tyr397Cys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Tyr45His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Tyr5Cys Single submitter Inborn genetic diseases ⚠
- p.Val192Leu Single submitter Inborn genetic diseases ⚠
- p.Val281Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Val319Ile Single submitter Inborn genetic diseases ⚠
- p.Val319Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ⚠
- p.Val81Gly Single submitter Inborn genetic diseases ⚠