| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Cornelia de Lange syndrome 1 | |
| | | Microsatellite (frameshift variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | NIPBL-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Deletion (frameshift variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Cornelia de Lange syndrome 1 | |
| | | Deletion (3 prime UTR variant +1 more) | Cornelia de Lange syndrome 1 | |
Click to view in NCBI Gene