| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Duplication (inframe_insertion +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Dihydropteridine reductase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Microsatellite (inframe_insertion +2 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |
| | LOC129992304, QDPR (A7del) | Microsatellite (inframe_deletion +2 more) | Dihydropteridine reductase deficiency | |
| | LOC129992304, QDPR (G18fs) | Deletion (frameshift variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Dihydropteridine reductase deficiency | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Microsatellite (inframe_insertion +2 more) | Dihydropteridine reductase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | QDPR-related condition +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperphenylalaninemia due to tetrahydrobiopterin deficiency +1 more | GPathogenic/Likely pathogenic |