| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Microsatellite (inframe_deletion) | Cornelia de Lange syndrome 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Copy number gain | RASopathy | |
Click to view in NCBI Gene