| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Hypochondroplasia +26 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | TWIST1-related craniosynostosis +3 more | |
| | | Copy number loss | Saethre-Chotzen syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Pfeiffer syndrome +13 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bent bone dysplasia syndrome 1 +12 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene