| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Coronal craniosynostosis +26 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Familial adenomatous polyposis 1 | |
| | | Single nucleotide variant (missense variant) | Cardio-facio-cutaneous syndrome | |
| | | Single nucleotide variant (missense variant) | Colorectal cancer | |
Click to view in NCBI Gene