| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2Q | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more | |
Click to view in NCBI Gene