| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 4 | |
| | | Duplication (frameshift variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (splice donor variant) | Cornelia de Lange syndrome 4 | |
| | | Indel (frameshift variant) | Cornelia de Lange syndrome 4 | |
Click to view in NCBI Gene