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