| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy 1 | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Developmental and epileptic encephalopathy, 2 | |
Click to view in NCBI Gene