| | | Duplication (frameshift variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (nonsense) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (nonsense) | Myopathy, centronuclear, 5 | |
| | | Duplication (frameshift variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 | |
| | ASIC4-AS1, SPEG (S2616del) | Deletion (inframe_deletion) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (nonsense) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Indel (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | SPEG-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 | |
| | | Deletion (frameshift variant) | Myopathy, centronuclear, 5 | |
| | | Duplication (frameshift variant) | Myopathy, centronuclear, 5 | GPathogenic/Likely pathogenic |
| | SPEG, ASIC4-AS1 (E3010del) | Deletion (inframe_deletion) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 5 +8 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (frameshift variant) | Myopathy, centronuclear, 5 | |
| | | Deletion (splice donor variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (nonsense) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (nonsense) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | Anterior segment dysgenesis 6 +6 more | GConflicting classifications of pathogenicity |