| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-astatic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Inborn genetic diseases +2 more | |
Click to view in NCBI Gene