| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital bilateral perisylvian syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Wolfram-like syndrome +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene