| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Seizures, benign familial infantile, 5 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cognitive impairment with or without cerebellar ataxia +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene