| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Brain malformations with or without urinary tract defects | |
| | | Single nucleotide variant (nonsense) | Chromosome 1p32-p31 deletion syndrome | |
| | | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Chromosome 1p32-p31 deletion syndrome +1 more | |
Click to view in NCBI Gene