NM_003124.5(SPR):c.544C>T (p.Gln182Ter)Pathogenic
Dopa-responsive dystonia due to sepiapterin reductase deficiency|Dystonic disorder
★★☆☆2025→ Residue 182
NM_003124.5(SPR):c.596-2_602delLikely pathogenic
Dystonic disorder|Dopa-responsive dystonia due to sepiapterin reductase deficiency
★★☆☆2025
NM_003124.5(SPR):c.448A>G (p.Arg150Gly)Pathogenic
Dopa-responsive dystonia due to sepiapterin reductase deficiency|not provided|Dystonic disorder|SPR-related disorder
★★☆☆2025→ Residue 150
NM_003124.5(SPR):c.751A>T (p.Lys251Ter)Pathogenic
Dopa-responsive dystonia due to sepiapterin reductase deficiency|not provided|Dystonic disorder
★★☆☆2024→ Residue 251
NM_003124.5(SPR):c.655C>T (p.Arg219Ter)Pathogenic
not provided|Dopa-responsive dystonia due to sepiapterin reductase deficiency|Dystonic disorder
★★☆☆2024→ Residue 219
NM_003124.5(SPR):c.663del (p.Leu222fs)Pathogenic
Dopa-responsive dystonia due to sepiapterin reductase deficiency
★★☆☆2024→ Residue 222
NM_003124.5(SPR):c.715C>T (p.Gln239Ter)Pathogenic
Dystonic disorder|Dopa-responsive dystonia due to sepiapterin reductase deficiency
★★☆☆2024→ Residue 239
NM_003124.5(SPR):c.512G>A (p.Cys171Tyr)Likely pathogenic
Dopa-responsive dystonia due to sepiapterin reductase deficiency|Dystonic disorder
★★☆☆2023→ Residue 171
NM_003124.5(SPR):c.1A>C (p.Met1Leu)Likely pathogenic
Dopa-responsive dystonia due to sepiapterin reductase deficiency|not provided
★★☆☆2023→ Residue 1
NM_003124.5(SPR):c.688A>T (p.Lys230Ter)Pathogenic
Dystonic disorder|not provided
★★☆☆2023→ Residue 230
NM_003124.5(SPR):c.596-2A>GPathogenic
Dopa-responsive dystonia due to sepiapterin reductase deficiency|Sarcoma|Dystonic disorder
★☆☆☆2025
NM_003124.5(SPR):c.3G>A (p.Met1Ile)Pathogenic
Dopa-responsive dystonia due to sepiapterin reductase deficiency
★☆☆☆2024→ Residue 1
NM_003124.5(SPR):c.1A>G (p.Met1Val)Likely pathogenic
Dopa-responsive dystonia due to sepiapterin reductase deficiency
★☆☆☆2024→ Residue 1
NM_003124.5(SPR):c.619C>T (p.Gln207Ter)Pathogenic
Dystonic disorder
★☆☆☆2024→ Residue 207
NM_003124.5(SPR):c.11_20dup (p.Val9fs)Pathogenic
Dystonic disorder
★☆☆☆2023→ Residue 9
NM_003124.5(SPR):c.43dup (p.Ala15fs)Pathogenic
Dystonic disorder
★☆☆☆2023→ Residue 15
NM_003124.5(SPR):c.262del (p.Arg88fs)Pathogenic
Dystonic disorder
★☆☆☆2023→ Residue 88
NM_003124.5(SPR):c.277C>T (p.Gln93Ter)Pathogenic
Dystonic disorder
★☆☆☆2023→ Residue 93
NM_003124.5(SPR):c.86C>A (p.Ser29Ter)Likely pathogenic
Dopa-responsive dystonia due to sepiapterin reductase deficiency
★☆☆☆2023→ Residue 29
NM_003124.5(SPR):c.615dup (p.Gln206fs)Pathogenic
Dystonic disorder
★☆☆☆2022→ Residue 206