| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Miyoshi muscular dystrophy 1 +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Miyoshi muscular dystrophy 1 +4 more | |
| | | Single nucleotide variant (nonsense) | Miyoshi muscular dystrophy 1 +4 more | |
Click to view in NCBI Gene