| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Duplication (inframe_insertion +1 more) | Dihydropteridine reductase deficiency | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | QDPR-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 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 (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) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (intron variant) | 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 (nonsense +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) | 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 (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous 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 (synonymous 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 (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 (synonymous 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 (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 (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Deletion (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous 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 (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 +2 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 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 (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 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 | |
| | | Deletion (frameshift variant +1 more) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dihydropteridine reductase deficiency | |
| | | Deletion (frameshift variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (intron variant) | 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 (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dihydropteridine reductase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dihydropteridine reductase deficiency | |