| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene