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