| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Chilton-Okur-Chung neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant) | Chilton-Okur-Chung neurodevelopmental syndrome | |
| | | Single nucleotide variant (nonsense) | Chilton-Okur-Chung neurodevelopmental syndrome +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene