| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental delay +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Okur-Chung neurodevelopmental syndrome +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene