| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Craniosynostosis 4 | |
| | | Deletion (frameshift variant) | See cases +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Chitayat syndrome +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Craniosynostosis 4 | |
Click to view in NCBI Gene