| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Alazami-Yuan syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Cornelia de Lange syndrome 1 +1 more | |
Click to view in NCBI Gene