| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal dominant 4 +24 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more | |
| | | Deletion (frameshift variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy +3 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
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