Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | GTP cyclohydrolase I deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hyperphenylalaninemia due to tetrahydrobiopterin deficiency +2 more | |
Click to view in NCBI Gene