| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (splice donor variant) | Pyridoxine-dependent epilepsy | |
| | | Single nucleotide variant (missense variant) | Pyridoxine-dependent epilepsy +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
Click to view in NCBI Gene