| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Merosin deficient congenital muscular dystrophy +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene