| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more | |
Click to view in NCBI Gene