| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Merosin deficient congenital muscular dystrophy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Merosin deficient congenital muscular dystrophy | |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +5 more | |
Click to view in NCBI Gene