| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Merosin deficient congenital muscular dystrophy +3 more | |
| | | Single nucleotide variant (nonsense) | Congenital Muscular Dystrophy, LAMA2-related +5 more | |
Click to view in NCBI Gene