| | | 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 (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) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | 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 +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 5 | |
| | | 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) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 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 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Indel (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Duplication (frameshift variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | 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 +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Duplication (frameshift variant) | Myopathy, centronuclear, 5 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 | |