| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant +1 more) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (intron variant) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy | |
Click to view in NCBI Gene