| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | LAMA2-related muscular dystrophy +3 more | GPathogenic/Likely pathogenic |
| | LOC126859784, LAMA2 (A2749fs +1 more) | Deletion (frameshift variant) | Merosin deficient congenital muscular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Merosin deficient congenital muscular dystrophy +1 more | |
Click to view in NCBI Gene