| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Rippling muscle disease 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Distal myopathy, Tateyama type +6 more | |
Click to view in NCBI Gene