| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2I +20 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene