| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Duplication (frameshift variant) | KBG syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +14 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis syndrome +8 more | |
Click to view in NCBI Gene