| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice acceptor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2A | |
| | CAPN3, LOC126862115 (A133V) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | CAPN3, LOC126862115 (I135fs) | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | CAPN3, LOC126862115 (R147Q) | Single nucleotide variant (missense variant) | not specified +1 more | |
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