| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Congenital hydrocephalus +1 more | GLikely pathogenic; risk factor |
| | | Insertion (frameshift variant) | Congenital hydrocephalus | |
| | | Single nucleotide variant (missense variant) | Congenital hydrocephalus +1 more | GLikely pathogenic; risk factor |
| | | Duplication (frameshift variant) | Congenital hydrocephalus | |
| | | Single nucleotide variant (nonsense) | Congenital hydrocephalus | |
Click to view in NCBI Gene