| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Merosin deficient congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy | |
| | | Deletion (frameshift variant) | Congenital muscular dystrophy | |
| | | Single nucleotide variant (splice acceptor variant) | Proximal muscle weakness | |
| | | Deletion (frameshift variant) | Congenital muscular dystrophy | |
Click to view in NCBI Gene