| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | KANSL1, KANSL1-AS1
+2 more | Copy number gain | Diaphragmatic hernia | |
| | | Single nucleotide variant (nonsense) | Koolen-de Vries syndrome +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene