| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +2 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Desmin-related myofibrillar myopathy | |
| | | Single nucleotide variant (intron variant +1 more) | Desmin-related myofibrillar myopathy | |
| | | Microsatellite (inframe_deletion +1 more) | Dilated cardiomyopathy 1I +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Abnormality of the musculature +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene