| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Saethre-Chotzen syndrome +6 more | |
| | | Single nucleotide variant (intron variant) | FGFR2-related craniosynostosis +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis +13 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Craniosynostosis syndrome +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Craniosynostosis syndrome +7 more | |
Click to view in NCBI Gene