| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-astatic epilepsy | |
| | | Deletion (frameshift variant +2 more) | Myoclonic-atonic epilepsy | |
| | SLC6A1, SLC6A1-AS1 (M121fs +1 more) | Deletion (frameshift variant +2 more) | Myoclonic-astatic epilepsy | |
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