| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | |
| | | Single nucleotide variant (missense variant) | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene