| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Hydrocephalus, congenital, 3, with brain anomalies | |
| | | Deletion (inframe_deletion +1 more) | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hydrocephalus, congenital, 3, with brain anomalies +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +1 more | |
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