| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | X-linked hydrocephalus syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked complicated corpus callosum dysgenesis | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene