| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Abnormality of the nervous system +26 more | GPathogenic/Likely pathogenic |
| | | Duplication (inframe_insertion +1 more) | TWIST1-related craniosynostosis +2 more | |
| | | Duplication (frameshift variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | FGFR2-related disorder +13 more | |
Click to view in NCBI Gene