| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-astatic epilepsy | |
| | | Single nucleotide variant (missense variant) | Myoclonic-astatic epilepsy | |
| | | Deletion (frameshift variant) | Myoclonic-astatic epilepsy | |
| | | Single nucleotide variant (missense variant) | SLC6A1-related disorder +3 more | |
Click to view in NCBI Gene