| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental delay +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Okur-Chung neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Okur-Chung neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Okur-Chung neurodevelopmental syndrome | |
Click to view in NCBI Gene