QDPR — 328 ClinVar variants
All ClinVar germline QDPR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →
26 Pathogenic · 4 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 8 Conflicting · 39 Benign · 4 Benign/Likely benign · 135 Likely benign · 99 Uncertain significance
Full QDPR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 78
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
QDPR p.Glu196Asp
Conflicting
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Gly151Ser
Conflicting
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Ile53Val
Conflicting
Single submitter
dihydropteridine reductase deficiency
Predictors lean, ClinVar uncertain 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
QDPR p.Ala137Thr
Uncertain significance
Multiple submitters
dihydropteridine reductase deficiency
-
QDPR p.Asn103Ser
Uncertain significance
Multiple submitters
dihydropteridine reductase deficiency
-
QDPR p.Asn168Lys
Uncertain significance
Multiple submitters
dihydropteridine reductase deficiency
-
QDPR p.Asp142Gly
Uncertain significance
Multiple submitters
dihydropteridine reductase deficiency
-
QDPR p.Cys161Phe
Uncertain significance
Multiple submitters
dihydropteridine reductase deficiency
-
QDPR p.Gly129Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
QDPR p.Gly92Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
QDPR p.Ile112Val
Uncertain significance
Multiple submitters
dihydropteridine reductase deficiency
-
QDPR p.Lys96Arg
Uncertain significance
Multiple submitters
dihydropteridine reductase deficiency
-
QDPR p.Pro173Ala
Uncertain significance
Multiple submitters
dihydropteridine reductase deficiency
-
QDPR p.Ser39Arg
Uncertain significance
Multiple submitters
dihydropteridine reductase deficiency
-
QDPR p.Tyr243Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
QDPR p.Val40Ile
Uncertain significance
Multiple submitters
dihydropteridine reductase deficiency
-
QDPR p.Ala122Asp
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Ala139Pro
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
- QDPR p.Ala156Thr Uncertain significance Single submitter
-
QDPR p.Ala50Thr
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Ala64Ser
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Asp186His
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Asp41Tyr
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Cys104Tyr
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Cys85Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
QDPR p.Gln110Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
QDPR p.Gln162Arg
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Gln162His
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Glu62Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
QDPR p.Glu70Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- QDPR p.Glu78Gly Uncertain significance Single submitter
- QDPR p.Gly151Asp Uncertain significance Single submitter
-
QDPR p.Gly155Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
QDPR p.His125Arg
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Ile117Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
QDPR p.Ile148Val
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Lys55Glu
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Lys73Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
QDPR p.Met194Val
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Pro182Leu
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
- QDPR p.Pro222Leu Uncertain significance Single submitter
-
QDPR p.Ser111Gly
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Ser111Ile
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Ser223Asn
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Ser51Arg
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Ser51Asn
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Ser51Gly
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Thr187Asn
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Val157Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
QDPR p.Val231Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
QDPR p.Ala64Pro
Uncertain significance
No assertion criteria
dihydropteridine reductase deficiency
Predictors split 27
The independent predictors disagree with each other — read with care.
-
QDPR p.Ala91Ser
Uncertain significance
Multiple submitters
dihydropteridine reductase deficiency
-
QDPR p.Arg221Gln
Uncertain significance
Multiple submitters
dihydropteridine reductase deficiency
-
QDPR p.His120Arg
Uncertain significance
Multiple submitters
dihydropteridine reductase deficiency
-
QDPR p.Phe212Tyr
Uncertain significance
Multiple submitters
dihydropteridine reductase deficiency
-
QDPR p.Pro188Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
QDPR p.Ser193Leu
Uncertain significance
Multiple submitters
dihydropteridine reductase deficiency
-
QDPR p.Ala179Thr
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Ala91Thr
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Asn220His
Uncertain significance
Single submitter
Inborn genetic diseases
-
QDPR p.Asp58Ala
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Asp58Asn
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Gln66His
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Gly146Ala
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Gly166Arg
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Gly174Arg
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
- QDPR p.Gly218Arg Uncertain significance Single submitter
-
QDPR p.Gly76Asp
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.His125Leu
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.His213Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- QDPR p.Ile117Val Uncertain significance Single submitter
-
QDPR p.Leu164Val
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Lys138Gln
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Ser59Leu
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
- QDPR p.Ser99Phe Uncertain significance Single submitter
-
QDPR p.Thr133Asn
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Val230Ala
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
-
QDPR p.Val86Ile
Uncertain significance
Single submitter
dihydropteridine reductase deficiency
All QDPR variants
Pathogenic 26
- c.436+2552A>G Multiple submitters dihydropteridine reductase deficiency
- c.545+1G>A Multiple submitters QDPR-related disorder
- p.Arg221Ter Multiple submitters dihydropteridine reductase deficiency
- p.Leu141fs Multiple submitters dihydropteridine reductase deficiency
- p.Tyr150Cys Multiple submitters QDPR-related disorder
- c.198+1G>A Single submitter dihydropteridine reductase deficiency
- c.436+1G>C Single submitter dihydropteridine reductase deficiency
- c.629+1G>A Single submitter dihydropteridine reductase deficiency
- c.629+2T>C Single submitter dihydropteridine reductase deficiency
- p.Gln110Ter Single submitter dihydropteridine reductase deficiency
- p.Gln66Ter Single submitter dihydropteridine reductase deficiency
- p.Gly170Ser Single submitter dihydropteridine reductase deficiency
- p.Gly225Arg Single submitter dihydropteridine reductase deficiency
- p.Leu205Ter Single submitter dihydropteridine reductase deficiency
- p.Lys192fs Single submitter dihydropteridine reductase deficiency
- p.Ser115Trp Single submitter dihydropteridine reductase deficiency
- p.Ser163Asn Single submitter dihydropteridine reductase deficiency
- p.Ser59fs Single submitter dihydropteridine reductase deficiency
- p.Trp215Ter Single submitter dihydropteridine reductase deficiency
- p.Tyr150fs Single submitter
- c.437-429A>G No assertion criteria dihydropteridine reductase deficiency
- p.Glu128fs No assertion criteria dihydropteridine reductase deficiency
- p.Thr123dup No assertion criteria dihydropteridine reductase deficiency
- p.Trp108Gly No assertion criteria dihydropteridine reductase deficiency
- p.Trp36Arg No assertion criteria dihydropteridine reductase deficiency
- p.Trp90Ter No assertion criteria dihydropteridine reductase deficiency
Pathogenic/Likely pathogenic 4
- p.Gly93fs Multiple submitters dihydropteridine reductase deficiency
- p.His158Tyr Multiple submitters dihydropteridine reductase deficiency
- p.Pro204fs Multiple submitters dihydropteridine reductase deficiency
- p.Ser115Leu Multiple submitters dihydropteridine reductase deficiency
Likely pathogenic 13
- c.546-1G>A Multiple submitters dihydropteridine reductase deficiency
- p.Phe212Ser Multiple submitters dihydropteridine reductase deficiency
- c.106-1G>C Single submitter dihydropteridine reductase deficiency
- c.546-2A>G Single submitter dihydropteridine reductase deficiency
- p.Ala153fs Single submitter dihydropteridine reductase deficiency
- p.Ala175fs Single submitter dihydropteridine reductase deficiency
- p.Gly149Arg Single submitter dihydropteridine reductase deficiency
- p.Gly89Arg Single submitter dihydropteridine reductase deficiency
- p.Pro145Leu Single submitter dihydropteridine reductase deficiency
- p.Pro172Leu Single submitter dihydropteridine reductase deficiency
- p.Pro182Arg Single submitter dihydropteridine reductase deficiency
- p.Trp36Gly Single submitter dihydropteridine reductase deficiency
- p.Ala140Asp No assertion criteria dihydropteridine reductase deficiency
Conflicting classifications of pathogenicity 8
- c.296-15G>T Single submitter dihydropteridine reductase deficiency
- p.Glu196Asp Single submitter dihydropteridine reductase deficiency ⚠
- p.Gly151Ser Single submitter dihydropteridine reductase deficiency ⚠
- p.Ile148= Single submitter dihydropteridine reductase deficiency
- p.Ile53Val Single submitter dihydropteridine reductase deficiency ⚠
- p.Ser49= Single submitter dihydropteridine reductase deficiency
- p.Ser99= Single submitter dihydropteridine reductase deficiency
- p.Tyr150= Single submitter dihydropteridine reductase deficiency
Benign 39
- c.106-141A>G Multiple submitters
- c.198+187C>T Multiple submitters
- c.199-66C>T Multiple submitters
- c.296-62G>A Multiple submitters
- c.296-64G>A Multiple submitters
- c.296-69T>C Multiple submitters
- c.296-79A>G Multiple submitters
- c.437-210T>C Multiple submitters
- c.437-91T>C Multiple submitters
- c.545+24T>C Multiple submitters
- c.629+140A>G Multiple submitters
- c.630-144A>G Multiple submitters
- c.630-46A>T Multiple submitters
- c.*220T>C Multiple submitters dihydropteridine reductase deficiency
- c.*221G>A Multiple submitters dihydropteridine reductase deficiency
- c.*403A>G Multiple submitters dihydropteridine reductase deficiency
- c.*408C>T Multiple submitters dihydropteridine reductase deficiency
- c.*468A>C Multiple submitters dihydropteridine reductase deficiency
- c.*510C>T Multiple submitters dihydropteridine reductase deficiency
- c.*622T>C Multiple submitters dihydropteridine reductase deficiency
- c.*682A>G Multiple submitters dihydropteridine reductase deficiency
- c.*690A>G Multiple submitters dihydropteridine reductase deficiency
- p.Leu132= Multiple submitters dihydropteridine reductase deficiency
- c.106-256G>A Single submitter
- c.199-16dup Single submitter dihydropteridine reductase deficiency
- c.199-43G>A Single submitter
- c.199-9G>C Single submitter
- c.295+115T>C Single submitter
- c.296-216A>G Single submitter
- c.296-8dup Single submitter dihydropteridine reductase deficiency
- c.436+16C>T Single submitter dihydropteridine reductase deficiency
- c.436+2437G>T Single submitter
- c.437-299C>T Single submitter
- c.437-66A>G Single submitter
- c.546-194T>C Single submitter
- c.546-62A>G Single submitter
- c.630-20dup Single submitter dihydropteridine reductase deficiency
- c.630-91C>T Single submitter
- c.*246del Single submitter
Benign/Likely benign 4
- c.436+19A>G Multiple submitters dihydropteridine reductase deficiency
- c.630-17T>C Multiple submitters dihydropteridine reductase deficiency
- c.630-20del Multiple submitters dihydropteridine reductase deficiency
- p.Cys85= Multiple submitters dihydropteridine reductase deficiency
Likely benign 135
- c.545+12G>A Multiple submitters dihydropteridine reductase deficiency
- c.545+14G>T Multiple submitters dihydropteridine reductase deficiency
- c.629+18G>A Multiple submitters dihydropteridine reductase deficiency
- p.Ala91= Multiple submitters dihydropteridine reductase deficiency
- p.Ile178= Multiple submitters dihydropteridine reductase deficiency
- p.Pro188= Multiple submitters dihydropteridine reductase deficiency
- p.Ser169= Multiple submitters dihydropteridine reductase deficiency
- c.106-12T>C Single submitter dihydropteridine reductase deficiency
- c.106-19del Single submitter dihydropteridine reductase deficiency
- c.106-20A>C Single submitter dihydropteridine reductase deficiency
- c.106-6T>C Single submitter dihydropteridine reductase deficiency
- c.106-8C>T Single submitter dihydropteridine reductase deficiency
- c.198+13A>T Single submitter dihydropteridine reductase deficiency
- c.198+15G>A Single submitter dihydropteridine reductase deficiency
- c.198+17C>T Single submitter dihydropteridine reductase deficiency
- c.198+18C>G Single submitter dihydropteridine reductase deficiency
- c.198+19C>A Single submitter dihydropteridine reductase deficiency
- c.199-15G>A Single submitter dihydropteridine reductase deficiency
- c.199-18T>A Single submitter dihydropteridine reductase deficiency
- c.199-4G>A Single submitter dihydropteridine reductase deficiency
- c.199-7G>A Single submitter dihydropteridine reductase deficiency
- c.295+12C>T Single submitter dihydropteridine reductase deficiency
- c.295+19C>T Single submitter dihydropteridine reductase deficiency
- c.296-14T>C Single submitter dihydropteridine reductase deficiency
- c.296-17A>C Single submitter dihydropteridine reductase deficiency
- c.296-17A>G Single submitter dihydropteridine reductase deficiency
- c.296-18C>T Single submitter dihydropteridine reductase deficiency
- c.296-20C>T Single submitter dihydropteridine reductase deficiency
- c.296-5C>T Single submitter
- c.296-7C>T Single submitter dihydropteridine reductase deficiency
- c.436+11A>G Single submitter dihydropteridine reductase deficiency
- c.436+17C>G Single submitter dihydropteridine reductase deficiency
- c.436+19A>C Single submitter dihydropteridine reductase deficiency
- c.436+2561T>C Single submitter
- c.437-10C>G Single submitter dihydropteridine reductase deficiency
- c.437-10C>T Single submitter dihydropteridine reductase deficiency
- c.437-11C>G Single submitter dihydropteridine reductase deficiency
- c.437-15C>G Single submitter dihydropteridine reductase deficiency
- c.437-17T>C Single submitter dihydropteridine reductase deficiency
- c.437-18C>T Single submitter dihydropteridine reductase deficiency
- c.437-20A>G Single submitter dihydropteridine reductase deficiency
- c.437-5C>A Single submitter dihydropteridine reductase deficiency
- c.437-5C>T Single submitter dihydropteridine reductase deficiency
- c.437-9A>G Single submitter dihydropteridine reductase deficiency
- c.545+14G>A Single submitter dihydropteridine reductase deficiency
- c.545+18C>T Single submitter dihydropteridine reductase deficiency
- c.545+19C>T Single submitter dihydropteridine reductase deficiency
- c.545+8C>G Single submitter dihydropteridine reductase deficiency
- c.545+9T>C Single submitter dihydropteridine reductase deficiency
- c.546-11G>A Single submitter dihydropteridine reductase deficiency
- c.546-20C>G Single submitter dihydropteridine reductase deficiency
- c.546-7A>G Single submitter dihydropteridine reductase deficiency
- c.546-9C>A Single submitter dihydropteridine reductase deficiency
- c.629+11_629+12del Single submitter dihydropteridine reductase deficiency
- c.629+16A>G Single submitter dihydropteridine reductase deficiency
- c.629+17T>C Single submitter dihydropteridine reductase deficiency
- c.629+237C>T Single submitter
- c.629+9T>C Single submitter dihydropteridine reductase deficiency
- c.630-14A>G Single submitter dihydropteridine reductase deficiency
- c.630-15T>C Single submitter dihydropteridine reductase deficiency
- c.630-19C>A Single submitter dihydropteridine reductase deficiency
- c.630-20A>C Single submitter dihydropteridine reductase deficiency
- c.630-20A>T Single submitter dihydropteridine reductase deficiency
- c.630-23_630-20del Single submitter dihydropteridine reductase deficiency
- c.630-4C>A Single submitter dihydropteridine reductase deficiency
- c.630-4C>G Single submitter dihydropteridine reductase deficiency
- c.*103C>T Single submitter dihydropteridine reductase deficiency
- p.Ala140= Single submitter dihydropteridine reductase deficiency
- p.Ala156= Single submitter dihydropteridine reductase deficiency
- p.Ala176= Single submitter dihydropteridine reductase deficiency
- p.Ala177= Single submitter dihydropteridine reductase deficiency
- p.Ala48= Single submitter dihydropteridine reductase deficiency
- p.Ala64= Single submitter dihydropteridine reductase deficiency
- p.Ala82= Single submitter dihydropteridine reductase deficiency
- p.Ala87= Single submitter dihydropteridine reductase deficiency
- p.Ala95= Single submitter dihydropteridine reductase deficiency
- p.Asn103= Single submitter dihydropteridine reductase deficiency
- p.Asn168= Single submitter dihydropteridine reductase deficiency
- p.Asp186= Single submitter dihydropteridine reductase deficiency
- p.Asp214= Single submitter dihydropteridine reductase deficiency
- p.Asp41= Single submitter dihydropteridine reductase deficiency
- p.Cys104= Single submitter dihydropteridine reductase deficiency
- p.Cys161= Single submitter dihydropteridine reductase deficiency
- p.Gln63= Single submitter dihydropteridine reductase deficiency
- p.Glu206= Single submitter dihydropteridine reductase deficiency
- p.Glu44= Single submitter dihydropteridine reductase deficiency
- p.Glu62= Single submitter dihydropteridine reductase deficiency
- p.Glu70= Single submitter dihydropteridine reductase deficiency
- p.Gly130= Single submitter dihydropteridine reductase deficiency
- p.Gly136= Single submitter dihydropteridine reductase deficiency
- p.Gly146= Single submitter
- p.Gly166= Single submitter dihydropteridine reductase deficiency
- p.Gly170= Single submitter dihydropteridine reductase deficiency
- p.Gly76= Single submitter dihydropteridine reductase deficiency
- p.Gly88= Single submitter dihydropteridine reductase deficiency
- p.Gly93= Single submitter dihydropteridine reductase deficiency
- p.His158= Single submitter dihydropteridine reductase deficiency
- p.His213= Single submitter dihydropteridine reductase deficiency
- p.Ile117= Single submitter dihydropteridine reductase deficiency
- p.Ile83= Single submitter dihydropteridine reductase deficiency
- p.Leu106= Single submitter dihydropteridine reductase deficiency
- p.Leu121= Single submitter dihydropteridine reductase deficiency
- p.Leu126= Single submitter dihydropteridine reductase deficiency
- p.Leu131= Single submitter dihydropteridine reductase deficiency
- p.Leu134= Single submitter dihydropteridine reductase deficiency
- p.Leu141= Single submitter dihydropteridine reductase deficiency
- p.Leu185= Single submitter dihydropteridine reductase deficiency
- p.Leu208= Single submitter dihydropteridine reductase deficiency
- p.Leu227= Single submitter dihydropteridine reductase deficiency
- p.Leu239= Single submitter dihydropteridine reductase deficiency
- p.Lys109= Single submitter dihydropteridine reductase deficiency
- p.Lys192= Single submitter dihydropteridine reductase deficiency
- p.Lys73= Single submitter dihydropteridine reductase deficiency
- p.Phe207= Single submitter dihydropteridine reductase deficiency
- p.Phe212= Single submitter dihydropteridine reductase deficiency
- p.Pro172= Single submitter dihydropteridine reductase deficiency
- p.Pro173= Single submitter dihydropteridine reductase deficiency
- p.Pro204= Single submitter dihydropteridine reductase deficiency
- p.Pro222= Single submitter dihydropteridine reductase deficiency
- p.Pro241= Single submitter dihydropteridine reductase deficiency
- p.Ser115= Single submitter dihydropteridine reductase deficiency
- p.Ser118= Single submitter dihydropteridine reductase deficiency
- p.Ser201= Single submitter dihydropteridine reductase deficiency
- p.Ser39= Single submitter dihydropteridine reductase deficiency
- p.Ser59= Single submitter dihydropteridine reductase deficiency
- p.Thr114= Single submitter dihydropteridine reductase deficiency
- p.Thr116= Single submitter dihydropteridine reductase deficiency
- p.Thr133= Single submitter dihydropteridine reductase deficiency
- p.Thr144= Single submitter
- p.Thr187= Single submitter dihydropteridine reductase deficiency
- p.Thr237= Single submitter dihydropteridine reductase deficiency
- p.Thr240= Single submitter dihydropteridine reductase deficiency
- p.Thr68= Single submitter dihydropteridine reductase deficiency
- p.Val67= Single submitter dihydropteridine reductase deficiency
- c.*6A>G No assertion criteria QDPR-related disorder
Uncertain significance 99
- c.436+5G>C Multiple submitters dihydropteridine reductase deficiency
- c.*46C>A Multiple submitters dihydropteridine reductase deficiency
- p.Ala137Thr Multiple submitters dihydropteridine reductase deficiency ⚠
- p.Ala91Ser Multiple submitters dihydropteridine reductase deficiency ⚠
- p.Arg221Gln Multiple submitters dihydropteridine reductase deficiency ⚠
- p.Asn103Ser Multiple submitters dihydropteridine reductase deficiency ⚠
- p.Asn168Lys Multiple submitters dihydropteridine reductase deficiency ⚠
- p.Asp142Gly Multiple submitters dihydropteridine reductase deficiency ⚠
- p.Cys161Phe Multiple submitters dihydropteridine reductase deficiency ⚠
- p.Gly129Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly92Arg Multiple submitters Inborn genetic diseases ⚠
- p.His120Arg Multiple submitters dihydropteridine reductase deficiency ⚠
- p.Ile112Val Multiple submitters dihydropteridine reductase deficiency ⚠
- p.Ile216_Gly218dup Multiple submitters dihydropteridine reductase deficiency
- p.Lys96Arg Multiple submitters dihydropteridine reductase deficiency ⚠
- p.Phe212Tyr Multiple submitters dihydropteridine reductase deficiency ⚠
- p.Pro173Ala Multiple submitters dihydropteridine reductase deficiency ⚠
- p.Pro188Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser193Leu Multiple submitters dihydropteridine reductase deficiency ⚠
- p.Ser200Arg Multiple submitters dihydropteridine reductase deficiency
- p.Ser39Arg Multiple submitters dihydropteridine reductase deficiency ⚠
- p.Tyr243Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val40Ile Multiple submitters dihydropteridine reductase deficiency ⚠
- c.199-10T>G Single submitter dihydropteridine reductase deficiency
- c.437-6T>A Single submitter dihydropteridine reductase deficiency
- c.545+2dup Single submitter dihydropteridine reductase deficiency
- c.*187A>C Single submitter dihydropteridine reductase deficiency
- c.*277T>C Single submitter dihydropteridine reductase deficiency
- c.*278G>A Single submitter dihydropteridine reductase deficiency
- c.*31C>T Single submitter dihydropteridine reductase deficiency
- c.*329T>G Single submitter dihydropteridine reductase deficiency
- c.*374G>C Single submitter dihydropteridine reductase deficiency
- c.*450T>A Single submitter dihydropteridine reductase deficiency
- c.*568T>G Single submitter dihydropteridine reductase deficiency
- c.*612T>C Single submitter dihydropteridine reductase deficiency
- p.Ala122Asp Single submitter dihydropteridine reductase deficiency ⚠
- p.Ala139Pro Single submitter dihydropteridine reductase deficiency ⚠
- p.Ala140_Leu141insProLysAlaAla Single submitter dihydropteridine reductase deficiency
- p.Ala156Thr Single submitter ⚠
- p.Ala179Thr Single submitter dihydropteridine reductase deficiency ⚠
- p.Ala50Thr Single submitter dihydropteridine reductase deficiency ⚠
- p.Ala64Ser Single submitter dihydropteridine reductase deficiency ⚠
- p.Ala91Thr Single submitter dihydropteridine reductase deficiency ⚠
- p.Asn220His Single submitter Inborn genetic diseases ⚠
- p.Asn45Ser Single submitter dihydropteridine reductase deficiency
- p.Asp186His Single submitter dihydropteridine reductase deficiency ⚠
- p.Asp41Tyr Single submitter dihydropteridine reductase deficiency ⚠
- p.Asp58Ala Single submitter dihydropteridine reductase deficiency ⚠
- p.Asp58Asn Single submitter dihydropteridine reductase deficiency ⚠
- p.Cys104Tyr Single submitter dihydropteridine reductase deficiency ⚠
- p.Cys85Ser Single submitter Inborn genetic diseases ⚠
- p.Gln110Lys Single submitter Inborn genetic diseases ⚠
- p.Gln162Arg Single submitter dihydropteridine reductase deficiency ⚠
- p.Gln162His Single submitter dihydropteridine reductase deficiency ⚠
- p.Gln66His Single submitter dihydropteridine reductase deficiency ⚠
- p.Glu62Asp Single submitter Inborn genetic diseases ⚠
- p.Glu70Asp Single submitter Inborn genetic diseases ⚠
- p.Glu78Gly Single submitter ⚠
- p.Gly146Ala Single submitter dihydropteridine reductase deficiency ⚠
- p.Gly151Asp Single submitter ⚠
- p.Gly155Ser Single submitter Inborn genetic diseases ⚠
- p.Gly166Arg Single submitter dihydropteridine reductase deficiency ⚠
- p.Gly174Arg Single submitter dihydropteridine reductase deficiency ⚠
- p.Gly218Arg Single submitter ⚠
- p.Gly76Asp Single submitter dihydropteridine reductase deficiency ⚠
- p.Gly89= Single submitter dihydropteridine reductase deficiency
- p.His125Arg Single submitter dihydropteridine reductase deficiency ⚠
- p.His125Leu Single submitter dihydropteridine reductase deficiency ⚠
- p.His213Arg Single submitter Inborn genetic diseases ⚠
- p.Ile117Phe Single submitter Inborn genetic diseases ⚠
- p.Ile117Val Single submitter ⚠
- p.Ile148Val Single submitter dihydropteridine reductase deficiency ⚠
- p.Leu164Val Single submitter dihydropteridine reductase deficiency ⚠
- p.Lys138Gln Single submitter dihydropteridine reductase deficiency ⚠
- p.Lys55Glu Single submitter dihydropteridine reductase deficiency ⚠
- p.Lys73Gln Single submitter Inborn genetic diseases ⚠
- p.Met171Ile Single submitter Inborn genetic diseases
- p.Met189Ile Single submitter dihydropteridine reductase deficiency
- p.Met194Val Single submitter dihydropteridine reductase deficiency ⚠
- p.Pro182= Single submitter dihydropteridine reductase deficiency
- p.Pro182Leu Single submitter dihydropteridine reductase deficiency ⚠
- p.Pro222Leu Single submitter ⚠
- p.Ser111Gly Single submitter dihydropteridine reductase deficiency ⚠
- p.Ser111Ile Single submitter dihydropteridine reductase deficiency ⚠
- p.Ser223Asn Single submitter dihydropteridine reductase deficiency ⚠
- p.Ser51Arg Single submitter dihydropteridine reductase deficiency ⚠
- p.Ser51Asn Single submitter dihydropteridine reductase deficiency ⚠
- p.Ser51Gly Single submitter dihydropteridine reductase deficiency ⚠
- p.Ser59Leu Single submitter dihydropteridine reductase deficiency ⚠
- p.Ser99Phe Single submitter ⚠
- p.Thr133Asn Single submitter dihydropteridine reductase deficiency ⚠
- p.Thr187Asn Single submitter dihydropteridine reductase deficiency ⚠
- p.Val157Leu Single submitter Inborn genetic diseases ⚠
- p.Val230Ala Single submitter dihydropteridine reductase deficiency ⚠
- p.Val231Ile Single submitter Inborn genetic diseases ⚠
- p.Val43del Single submitter dihydropteridine reductase deficiency
- p.Val80= Single submitter dihydropteridine reductase deficiency
- p.Val86Ile Single submitter dihydropteridine reductase deficiency ⚠
- p.Ala64Pro No assertion criteria dihydropteridine reductase deficiency ⚠