| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 51 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 51 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 51 | |
| | | Single nucleotide variant (nonsense +2 more) | Neural tube defect +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene