| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion +1 more) | Desmin-related myofibrillar myopathy +2 more | |
Click to view in NCBI Gene