| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Keipert syndrome | |
| | | Single nucleotide variant (missense variant) | Keipert syndrome | |
| | | Deletion (frameshift variant) | Craniosynostosis syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
Click to view in NCBI Gene