| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Cornelia de Lange syndrome 3 | |
| | | Deletion (frameshift variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | SMC3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SMC3-related disorder | |
| | | Single nucleotide variant (intron variant) | SMC3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SMC3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SMC3-related disorder | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Deletion (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | SMC3-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Deletion (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Deletion (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Insertion (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Deletion (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Deletion (inframe_deletion) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Deletion (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Deletion (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | SMC3-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (nonsense) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Deletion (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Duplication (frameshift variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Microsatellite (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (nonsense) | Cornelia de Lange syndrome 3 | |