| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Merosin deficient congenital muscular dystrophy +4 more | |
| | | Microsatellite (frameshift variant) | Merosin deficient congenital muscular dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Deletion (splice acceptor variant +1 more) | Merosin deficient congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Merosin deficient congenital muscular dystrophy +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene