| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Cornelia de Lange syndrome 5 | |
| | | Deletion (frameshift variant +3 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 | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene