| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Pyridoxine-dependent epilepsy | |
| | | Single nucleotide variant (missense variant) | Pyridoxine-dependent epilepsy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Pyridoxine-dependent epilepsy | |
Click to view in NCBI Gene