| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | not provided +4 more | |
| | | Deletion | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant epilepsy with auditory features | |
| | | Deletion (frameshift variant +1 more) | Epilepsy, familial temporal lobe, 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Seizure +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Autosomal dominant epilepsy with auditory features | |
Click to view in NCBI Gene