| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency +2 more | |
Click to view in NCBI Gene