| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Multiple congenital exostosis +1 more | |
| | | Single nucleotide variant (missense variant) | Seizures-scoliosis-macrocephaly syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Seizures-scoliosis-macrocephaly syndrome +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene