| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Chitayat syndrome +1 more | |
| | | Deletion | TWIST1-related craniosynostosis | |
| | | Deletion (frameshift variant) | not provided | |
Click to view in NCBI Gene