| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Merosin deficient congenital muscular dystrophy | |
| | | Single nucleotide variant (splice donor variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +3 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Merosin deficient congenital muscular dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | LAMA2-related muscular dystrophy +2 more | |
| | | Deletion (frameshift variant) | Merosin deficient congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Merosin deficient congenital muscular dystrophy | |
| | | Duplication (frameshift variant) | LAMA2-related muscular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Merosin deficient congenital muscular dystrophy | |
| | | Deletion (inframe_deletion) | Merosin deficient congenital muscular dystrophy | |
| | | Single nucleotide variant (nonsense) | LAMA2-related muscular dystrophy +5 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | LAMA2, LOC126859784 (N2767fs +1 more) | Duplication (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 | |
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