| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability, severe +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autistic behavior +3 more | |
| | | Copy number loss | Global developmental delay +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Macrocephaly +24 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual disability +1 more | |
Click to view in NCBI Gene