| | | Deletion (frameshift variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Deletion (frameshift variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (nonsense) | Dystonic disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder +1 more | |
| | | Deletion (splice donor variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Dystonic disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder +1 more | GConflicting classifications of pathogenicity |
| | | Insertion (frameshift variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency +2 more | GConflicting classifications of pathogenicity |
| | | 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 | |
| | | Deletion (inframe_deletion) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder +2 more | |
| | | Deletion | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dystonic disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Dystonic disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | SPR-related disorder +3 more | |
| | | Deletion (frameshift variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (nonsense) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |