| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | CAPN12-related condition | |
| | CAPN12, LOC130064372 (A478G) | Single nucleotide variant (missense variant) | CAPN12-related condition | |
| | CAPN12, LOC130064372 (H469R) | Single nucleotide variant (missense variant) | CAPN12-related condition +1 more | |
| | CAPN12, LOC130064372 (H469Y) | Single nucleotide variant (missense variant) | CAPN12-related condition | |
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