| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | GTP cyclohydrolase I deficiency +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Dystonia 5 +3 more | |
| | | Single nucleotide variant (nonsense) | Dystonia 5 | |
| | | Single nucleotide variant (missense variant) | Dystonia 5 +1 more | |
Click to view in NCBI Gene