| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hecht syndrome | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | |
| | LOC126862500, MYH2
+1 more (R1668W) | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (splice donor variant) | Myopathy, proximal, and ophthalmoplegia | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
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