| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Deletion (frameshift variant) | Cornelia de Lange syndrome 1 | |
| | | Duplication (frameshift variant) | Cornelia de Lange syndrome 1 | |
| | | Duplication (frameshift variant) | Cornelia de Lange syndrome 1 | |
| | | Deletion (inframe deletion) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Deletion (frameshift variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Deletion (frameshift variant) | NIPBL-related condition +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | NIPBL-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | NIPBL-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Microsatellite (inframe_deletion) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Deletion (5 prime UTR variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Deletion (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | NIPBL-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Microsatellite (inframe_deletion) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Deletion (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Insertion (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Deletion (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |