| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | MYH2-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene