| | | Single nucleotide variant (splice donor variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (splice donor variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | HDAC8-related disorder | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Duplication (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (intron variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +2 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (splice acceptor variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +2 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +2 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Deletion (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Duplication (frameshift variant +1 more) | Cornelia de Lange syndrome 5 | |
| | KIF4A, LOC130068402 +206 more | Duplication | Xq13q21 duplication | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Deletion (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Deletion | Cornelia de Lange syndrome 5 | |
| | | Deletion (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cornelia de Lange syndrome 5 | |