| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Craniofrontonasal syndrome | |
| | | Single nucleotide variant (missense variant) | Craniofrontonasal syndrome | |
| | | Single nucleotide variant (nonsense) | Craniofrontonasal syndrome | |
| | | Microsatellite (frameshift variant) | Craniofrontonasal syndrome | |
Click to view in NCBI Gene