| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Myofibrillar myopathy 8 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 8 | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 8 | |
Click to view in NCBI Gene