| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Multiple congenital exostosis +2 more | |
| | | Single nucleotide variant (synonymous variant) | Chondrosarcoma +2 more | |
| | | Duplication (frameshift variant) | not provided +3 more | |
| | | Microsatellite (frameshift variant) | Multiple congenital exostosis +3 more | |
Click to view in NCBI Gene