| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CAPN3, LOC126862115 (R147*) | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more | |
| | CAPN3, LOC126862115 (H151R) | Single nucleotide variant (missense variant) | Familial idiopathic inflammatory myopathy +2 more | |
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