| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126862500, MYH2
+1 more (L1592M) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene