| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G +1 more | |
| | | Deletion (inframe_deletion +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
Click to view in NCBI Gene