| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (nonsense) | Acute megakaryoblastic leukemia in down syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Copy number gain | See cases | |
Click to view in NCBI Gene