| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Pyridoxine-dependent epilepsy | GConflicting classifications of pathogenicity |
| | | Insertion (frameshift variant) | Pyridoxine-dependent epilepsy | |
| | | Single nucleotide variant (nonsense) | Pyridoxine-dependent epilepsy | |
Click to view in NCBI Gene