| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial focal, with variable foci 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Familial focal epilepsy with variable foci +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial focal epilepsy with variable foci +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Epilepsy, familial focal, with variable foci 1 | |
| | | Deletion (frameshift variant +1 more) | Epilepsy, familial focal, with variable foci 1 | |
Click to view in NCBI Gene