| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal dominant nocturnal frontal lobe epilepsy +2 more | |
| | | Deletion (frameshift variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Autosomal dominant nocturnal frontal lobe epilepsy +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nocturnal frontal lobe epilepsy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nocturnal frontal lobe epilepsy +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nocturnal frontal lobe epilepsy +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nocturnal frontal lobe epilepsy +1 more | |
Click to view in NCBI Gene