| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Roussy-Lévy syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal dominant 4 +24 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Clubfoot +7 more | |
Click to view in NCBI Gene