| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CAPN3, LOC130056921 (T405fs +1 more) | Duplication (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2A | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more | |
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