| | LOC126862501, MYH2 +1 more (V192A) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Myopathy, proximal, and ophthalmoplegia | |
| | | Duplication | Myopathy, proximal, and ophthalmoplegia | |
| | | Deletion | Myopathy, proximal, and ophthalmoplegia | |
| | MYHAS, LOC126862500 +1 more (R1695W) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862501, MYH2 +1 more (T257A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126862500, MYH2 +1 more (N1636T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126862500, MYH2 +1 more (Q1604H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126862500, MYH2 +1 more (E1584K) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Indel (intron variant) | MYH2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | MYH2-related disorder | |
| | LOC126862500, MYH2 +1 more | Single nucleotide variant (synonymous variant) | MYH2-related disorder | |
| | | Single nucleotide variant (intron variant) | MYH2-related disorder | |
| | | Single nucleotide variant (intron variant) | MYH2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | MYH2-related disorder | |
| | | Single nucleotide variant (intron variant) | MYH2-related disorder | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | LOC126862500, MYH2 +1 more | Single nucleotide variant (intron variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Insertion (frameshift variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (intron variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | LOC126862500, MYH2 +1 more (S1556C) | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Deletion (frameshift variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (intron variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (intron variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, proximal, and ophthalmoplegia | |
| | LOC126862501, MYH2 +1 more | Single nucleotide variant (intron variant) | Myopathy, proximal, and ophthalmoplegia | |
| | LOC126862500, MYH2 +1 more | Single nucleotide variant (synonymous variant) | Myopathy, proximal, and ophthalmoplegia | |
| | LOC126862501, MYH2 +1 more (R246L) | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Deletion (frameshift variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (intron variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (intron variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (intron variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (intron variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (intron variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | LOC126862500, MYH2 +1 more | Single nucleotide variant (intron variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, proximal, and ophthalmoplegia | |
| | LOC126862501, MYH2 +1 more | Single nucleotide variant (synonymous variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | LOC126862500, MYH2 +1 more (A1666V) | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (intron variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, proximal, and ophthalmoplegia | |
| | LOC126862500, MYH2 +1 more (E1474*) | Single nucleotide variant (nonsense) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | LOC126862500, MYH2 +1 more | Single nucleotide variant (intron variant) | Myopathy, proximal, and ophthalmoplegia | |
| | LOC126862500, MYH2 +1 more (T1519K) | Single nucleotide variant (missense variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, proximal, and ophthalmoplegia | |
| | LOC126862500, MYH2 +1 more | Single nucleotide variant (intron variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, proximal, and ophthalmoplegia | |
| | | Single nucleotide variant (intron variant) | Myopathy, proximal, and ophthalmoplegia | |