| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Febrile seizures, familial, 8 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, childhood absence 2 +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene