| | | Deletion (frameshift variant) | BIN1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Microsatellite (intron variant) | BIN1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | BIN1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | BIN1-related disorder | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 2 | |
| | | Indel (missense variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myopathy, centronuclear, 2 | |
| | | Indel (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant +1 more) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (nonsense) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (nonsense) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (intron variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myopathy, centronuclear, 2 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 2 | |
| | | Copy number loss | not provided | |