| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more | |
| | CAPN3, LOC130056921 (P410fs +1 more) | Deletion (frameshift variant) | not provided | |
| | CAPN3, LOC130056921 (Q459H +1 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more | |
| | CAPN3, LOC130056921 (Y460N +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | CAPN3, LOC130056921 (R461C +1 more) | Single nucleotide variant (missense variant) | Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more | GPathogenic/Likely pathogenic |
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