| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Craniosynostosis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | FGFR2-related craniosynostosis | |
| | | Single nucleotide variant (missense variant +2 more) | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis +13 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene