GCH1 — 601 ClinVar variants

All ClinVar germline GCH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 190 flagged for review →

67 Pathogenic · 13 Pathogenic/Likely pathogenic · 34 Likely pathogenic · 37 Conflicting · 28 Benign · 8 Benign/Likely benign · 167 Likely benign · 247 Uncertain significance

Full GCH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 190

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 16

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

GCH1 p.Arg178Gly Conflicting Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Arg241Gln Conflicting Single submitter
dystonia 5
GCH1 p.Asp134Asn Conflicting Single submitter
dystonia 5
GCH1 p.Gly108Asp Conflicting Single submitter
dystonia 5
GCH1 p.Gly108Ser Conflicting Single submitter
dystonia 5
GCH1 p.Gly90Arg Conflicting Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Leu92Ile Conflicting Single submitter
BH4-deficient hyperphenylalaninemia A
GCH1 p.Met102Thr Conflicting Single submitter
dystonia 5
GCH1 p.Met215Thr Conflicting Single submitter
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
GCH1 p.Met230Thr Conflicting Single submitter
dystonia 5
GCH1 p.Pro23Leu Conflicting Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Ser80Asn Conflicting Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Thr106Ser Conflicting Single submitter
dystonia 5
GCH1 p.Val132Ala Conflicting Single submitter
dystonia 5
GCH1 p.Val204Ile Conflicting Single submitter
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
GCH1 p.Val206Ala Conflicting Single submitter
dystonia 5

Predictors lean, ClinVar uncertain 152

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 152

GCH1 p.Ala101Thr Uncertain significance Multiple submitters
GCH1 p.Ala169Gly Uncertain significance Multiple submitters
dystonia 5
GCH1 p.Ala196Ser Uncertain significance Multiple submitters
dystonia 5
GCH1 p.Ala8Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GCH1 p.Ala99Pro Uncertain significance Multiple submitters
dystonia 5
GCH1 p.Arg216Gln Uncertain significance Multiple submitters
GTP cyclohydrolase I deficiency
GCH1 p.Arg235Gln Uncertain significance Multiple submitters
dystonia 5
GCH1 p.Arg235Trp Uncertain significance Multiple submitters
GTP cyclohydrolase I deficiency
GCH1 p.Arg25Trp Uncertain significance Multiple submitters
Inborn genetic diseases
GCH1 p.Asn20Ser Uncertain significance Multiple submitters
GTP cyclohydrolase I deficiency
GCH1 p.Asp51Glu Uncertain significance Multiple submitters
dystonia 5
GCH1 p.Gln110Glu Uncertain significance Multiple submitters
dystonia 5
GCH1 p.Gln87Pro Uncertain significance Multiple submitters
GTP cyclohydrolase I deficiency
GCH1 p.Glu195Asp Uncertain significance Multiple submitters
Inborn genetic diseases
GCH1 p.Glu65Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GCH1 p.Gly164Ala Uncertain significance Multiple submitters
dystonia 5
GCH1 p.Gly217Val Uncertain significance Multiple submitters
GTP cyclohydrolase I deficiency
GCH1 p.Gly4Asp Uncertain significance Multiple submitters
dystonia 5
GCH1 p.Gly4Ser Uncertain significance Multiple submitters
dystonia 5
GCH1 p.Gly52Arg Uncertain significance Multiple submitters
dystonia 5
GCH1 p.Gly52Cys Uncertain significance Multiple submitters
GTP cyclohydrolase I deficiency
GCH1 p.Leu179Pro Uncertain significance Multiple submitters
GCH1 p.Leu92Phe Uncertain significance Multiple submitters
dystonia 5
GCH1 p.Lys93Asn Uncertain significance Multiple submitters
Inborn genetic diseases
GCH1 p.Met140Ile Uncertain significance Multiple submitters
GTP cyclohydrolase I deficiency
GCH1 p.Phe122Leu Uncertain significance Multiple submitters
GTP cyclohydrolase I deficiency
GCH1 p.Pro28Leu Uncertain significance Multiple submitters
GTP cyclohydrolase I deficiency
GCH1 p.Pro40Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GCH1 p.Ser100Leu Uncertain significance Multiple submitters
dystonia 5
GCH1 p.Ser46Arg Uncertain significance Multiple submitters
GTP cyclohydrolase I deficiency
GCH1 p.Ser80Cys Uncertain significance Multiple submitters
GTP cyclohydrolase I deficiency
GCH1 p.Thr209Arg Uncertain significance Multiple submitters
GTP cyclohydrolase I deficiency
GCH1 p.Thr209Pro Uncertain significance Multiple submitters
GCH1 p.Thr246Ile Uncertain significance Multiple submitters
dystonia 5
GCH1 p.Tyr175Phe Uncertain significance Multiple submitters
Inborn genetic diseases
GCH1 p.Val191Ile Uncertain significance Multiple submitters
dystonia 5
GCH1 p.Val226Glu Uncertain significance Multiple submitters
Inborn genetic diseases
GCH1 p.Val6Leu Uncertain significance Multiple submitters
GTP cyclohydrolase I deficiency
GCH1 p.Ala10Thr Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Ala192Val Uncertain significance Single submitter
dystonia 5
GCH1 p.Ala36Val Uncertain significance Single submitter
dystonia 5
GCH1 p.Ala44Val Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Ala47Glu Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Ala47Val Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Ala8Pro Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Ala8Ser Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Ala98Pro Uncertain significance Single submitter
GCH1 p.Ala99Ser Uncertain significance Single submitter
GCH1 p.Arg170Gly Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Arg178Lys Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Arg198Gln Uncertain significance Single submitter
dystonia 5
GCH1 p.Arg216Pro Uncertain significance Single submitter
dystonia 5
GCH1 p.Arg241Trp Uncertain significance Single submitter
dystonia 5
GCH1 p.Arg57Gln Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Arg7Trp Uncertain significance Single submitter
GCH1 p.Arg97Trp Uncertain significance Single submitter
dystonia 5
GCH1 p.Asn159Ser Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Asn222Tyr Uncertain significance Single submitter
GCH1 p.Asp115Tyr Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Asp119Asn Uncertain significance Single submitter
dystonia 5
GCH1 p.Asp123Asn Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Asp123Gly Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Asp134Gly Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Cys141Ser Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Cys141Trp Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Cys18Tyr Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Cys212Arg Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Cys212Tyr Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Gln103His Uncertain significance Single submitter
dystonia 5
GCH1 p.Gln161Lys Uncertain significance Single submitter
GCH1 p.Gln48Lys Uncertain significance Single submitter
Inborn genetic diseases
GCH1 p.Gln87His Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Gln89Arg Uncertain significance Single submitter
dystonia 5
GCH1 p.Glu207Asp Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Glu24Asp Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Glu2Lys Uncertain significance Single submitter
GCH1 p.Glu62Asp Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Glu62Gln Uncertain significance Single submitter
GCH1 p.Glu65Val Uncertain significance Single submitter
dystonia 5
GCH1 p.Glu84Gln Uncertain significance Single submitter
dystonia 5
GCH1 p.Gly15Ser Uncertain significance Single submitter
dystonia 5
GCH1 p.Gly217Ser Uncertain significance Single submitter
dystonia 5
GCH1 p.Gly31Arg Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Gly52Ser Uncertain significance Single submitter
dystonia 5
GCH1 p.Gly55Asp Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Gly55Ser Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Gly83Asp Uncertain significance Single submitter
dystonia 5
GCH1 p.His126Arg Uncertain significance Single submitter
dystonia 5
GCH1 p.His126Leu Uncertain significance Single submitter
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
GCH1 p.His143Arg Uncertain significance Single submitter
GCH1 p.His144Arg Uncertain significance Single submitter
Inborn genetic diseases
GCH1 p.His153Arg Uncertain significance Single submitter
dystonia 5
GCH1 p.His153Tyr Uncertain significance Single submitter
GCH1 p.Ile121Val Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Ile154Met Uncertain significance Single submitter
dystonia 5
GCH1 p.Ile154Val Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Ile174Phe Uncertain significance Single submitter
Inborn genetic diseases
GCH1 p.Ile174Thr Uncertain significance Single submitter
Inborn genetic diseases
GCH1 p.Ile78Met Uncertain significance Single submitter
GCH1 p.Leu145Phe Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Leu165Phe Uncertain significance Single submitter
dystonia 5
GCH1 p.Leu185Arg Uncertain significance Single submitter
GCH1 p.Leu197Phe Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Leu231Phe Uncertain significance Single submitter
GCH1 p.Leu245Pro Uncertain significance Single submitter
GCH1 p.Leu79Met Uncertain significance Single submitter
GCH1 p.Leu92Pro Uncertain significance Single submitter
dystonia 5
GCH1 p.Lys107Arg Uncertain significance Single submitter
GCH1 p.Lys107Asn Uncertain significance Single submitter
dystonia 5
GCH1 p.Lys151Arg Uncertain significance Single submitter
dystonia 5
GCH1 p.Met102Val Uncertain significance Single submitter
Inborn genetic diseases
GCH1 p.Met221Val Uncertain significance Single submitter
dystonia 5
GCH1 p.Met230Ile Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Phe22Val Uncertain significance Single submitter
GCH1 p.Phe244Leu Uncertain significance Single submitter
GCH1 p.Pro147Ser Uncertain significance Single submitter
GCH1 p.Pro147Thr Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Pro158Leu Uncertain significance Single submitter
GCH1 p.Pro199Leu Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Pro27Leu Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Pro28Ser Uncertain significance Single submitter
dystonia 5
GCH1 p.Pro30Arg Uncertain significance Single submitter
dystonia 5
GCH1 p.Pro30Ser Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Pro39Thr Uncertain significance Single submitter
dystonia 5
GCH1 p.Pro49His Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Pro49Leu Uncertain significance Single submitter
Inborn genetic diseases
GCH1 p.Pro49Ser Uncertain significance Single submitter
dystonia 5
GCH1 p.Pro58Ser Uncertain significance Single submitter
dystonia 5
GCH1 p.Pro5Ala Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Pro69Ser Uncertain significance Single submitter
GCH1 p.Pro86Arg Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Pro95Leu Uncertain significance Single submitter
GCH1 p.Pro9Ser Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Ser139Phe Uncertain significance Single submitter
dystonia 5
GCH1 p.Ser223Arg Uncertain significance Single submitter
GCH1 p.Ser250Gly Uncertain significance Single submitter
GCH1 p.Ser33Cys Uncertain significance Single submitter
dystonia 5
GCH1 p.Ser46Asn Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Ser77Cys Uncertain significance Single submitter
dystonia 5
GCH1 p.Ser81Pro Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Thr112Ser Uncertain significance Single submitter
GCH1 p.Thr227Ala Uncertain significance Single submitter
GCH1 p.Thr94Ala Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Thr94Ser Uncertain significance Single submitter
dystonia 5
GCH1 p.Tyr175Cys Uncertain significance Single submitter
intellectual disability
GCH1 p.Val132Met Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Val172Ile Uncertain significance Single submitter
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
GCH1 p.Val172Leu Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Val214Ala Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Val226Leu Uncertain significance Single submitter
dystonia 5

Predictors split 22

The independent predictors disagree with each other — read with care.

GCH1 p.Ala200Gly Uncertain significance Multiple submitters
GTP cyclohydrolase I deficiency
GCH1 p.Arg198Trp Uncertain significance Multiple submitters
GTP cyclohydrolase I deficiency
GCH1 p.Gly232Arg Uncertain significance Multiple submitters
GTP cyclohydrolase I deficiency
GCH1 p.Pro238Thr Uncertain significance Multiple submitters
GTP cyclohydrolase I deficiency
GCH1 p.Thr112Ala Uncertain significance Multiple submitters
GTP cyclohydrolase I deficiency
GCH1 p.Ala73Val Uncertain significance Single submitter
GCH1 p.Arg249Ser Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Asp237Asn Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Asp63Asn Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Gln103Arg Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Gly232Asp Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Gly232Cys Uncertain significance Single submitter
dystonia 5
GCH1 p.Lys224Arg Conflicting Single submitter
dystonia 5
GCH1 p.Lys93Arg Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Met102Leu Uncertain significance Single submitter
GCH1 p.Met140Val Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Met221Thr Conflicting Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Pro69Leu Conflicting Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Ser100Pro Uncertain significance Single submitter
dystonia 5
GCH1 p.Ser250Cys Uncertain significance Single submitter
GCH1 p.Ser250Ile Uncertain significance Single submitter
GTP cyclohydrolase I deficiency
GCH1 p.Thr194Met Uncertain significance Single submitter
dystonia 5

All GCH1 variants

Pathogenic 67

c.344-1G>A Multiple submitters GTP cyclohydrolase I deficiency
c.541+1G>T Multiple submitters GTP cyclohydrolase I deficiency
c.541+2T>C Multiple submitters GTP cyclohydrolase I deficiency
c.626+1G>T Multiple submitters GTP cyclohydrolase I deficiency
p.Arg184His Multiple submitters dystonia 5
p.Asp26fs Multiple submitters dystonia 5
p.Glu84Ter Multiple submitters GTP cyclohydrolase I deficiency
p.Gly203Arg Multiple submitters dystonia 5
p.Met1Val Multiple submitters dystonia 5
c.344-1G>C Single submitter GTP cyclohydrolase I deficiency
c.453+1G>A Single submitter dystonia 5
c.453+1G>C Single submitter dystonia 5
c.453+2T>G Single submitter dystonia 5
c.454-2A>G Single submitter dystonia 5
c.509+1_509+3delinsTGTGAG Single submitter dystonia 5
c.509+1G>A Single submitter
c.510-1G>C Single submitter
c.510-1G>T Single submitter dystonia 5
c.541+1G>C Single submitter GTP cyclohydrolase I deficiency
c.626+1G>C Single submitter
c.626+2T>C Single submitter dystonia 5
p.Ala169fs Single submitter
p.Ala44fs Single submitter dystonia 5
p.Ala74fs Single submitter dystonia 5
p.Ala98Val Single submitter GTP cyclohydrolase I deficiency
p.Arg178_Leu179del Single submitter GTP cyclohydrolase I deficiency
p.Arg178Ter Single submitter dystonia 5
p.Arg17fs Single submitter dystonia 5
p.Asp63fs Single submitter GTP cyclohydrolase I deficiency
p.Gln103fs Single submitter GTP cyclohydrolase I deficiency
p.Gln103Ter Single submitter GTP cyclohydrolase I deficiency
p.Gln110Ter Single submitter GCH1-related disorder
p.Gln182Ter Single submitter dystonia 5
p.Gln48Ter Single submitter dystonia 5
p.Glu242Ter Single submitter GTP cyclohydrolase I deficiency
p.Glu37Ter Single submitter dystonia 5
p.Glu62fs Single submitter dystonia 5
p.Glu65Ter Single submitter GCH1-related disorder
p.Gly201Arg Single submitter GTP cyclohydrolase I deficiency
p.Gly201Ter Single submitter dystonia 5
p.Ile78fs Single submitter dystonia 5
p.Leu71fs Single submitter GTP cyclohydrolase I deficiency
p.Met1Leu Single submitter dystonia 5
p.Phe244fs Single submitter dystonia 5
p.Pro158fs Single submitter dystonia 5
p.Ser100Ter Single submitter GTP cyclohydrolase I deficiency
p.Ser223Gly Single submitter GTP cyclohydrolase I deficiency with hyperphenylalaninemia
p.Ser81Ter Single submitter GTP cyclohydrolase I deficiency
p.Ter251Arg Single submitter dystonia 5
p.Ter251Ser Single submitter
p.Thr94fs Single submitter GTP cyclohydrolase I deficiency
p.Trp53Ter Single submitter dystonia 5
p.Trp96Ter Single submitter dystonia 5
p.Tyr75fs Single submitter
p.Val132fs Single submitter dystonia 5
c.344-2A>G No assertion criteria dystonia 5
p.Arg88Trp No assertion criteria dystonia 5
p.Asn118fs No assertion criteria dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
p.Asp134Val No assertion criteria dystonia 5
p.Glu2fs No assertion criteria dystonia 5
p.Glu43fs No assertion criteria dystonic disorder
p.Gly201Glu No assertion criteria dystonia 5
p.His144Pro No assertion criteria dystonia 5
p.Ile135Lys No assertion criteria dystonia 5
p.Met1Ile No assertion criteria dystonia 5
p.Met211Ile No assertion criteria GTP cyclohydrolase I deficiency with hyperphenylalaninemia
p.Pro199Ala No assertion criteria dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive

Pathogenic/Likely pathogenic 13

c.510-1G>A Multiple submitters GCH1-related disorder
c.626+1G>A Multiple submitters GTP cyclohydrolase I deficiency
c.626+2dup Multiple submitters GTP cyclohydrolase I deficiency
c.-22C>T Multiple submitters dystonia 5
p.Ala200fs Multiple submitters GTP cyclohydrolase I deficiency
p.Arg184Cys Multiple submitters dystonia 5
p.Arg216Ter Multiple submitters GTP cyclohydrolase I deficiency
p.Gln180Arg Multiple submitters dystonia 5
p.Gln219Ter Multiple submitters GTP cyclohydrolase I deficiency
p.Glu84fs Multiple submitters dystonia 5
p.Ile193_Glu195delinsLys Multiple submitters GTP cyclohydrolase I deficiency
p.Lys160Ter Multiple submitters dystonia 5
p.Val205Glu Multiple submitters GCH1-related disorder

Likely pathogenic 34

c.626+2_626+3insTT Multiple submitters dystonia 5
p.Arg88Gly Multiple submitters dystonia 5
p.Arg88Leu Multiple submitters Abnormal central motor function
p.Thr94Met Multiple submitters dystonia 5
c.509+2T>A Single submitter GTP cyclohydrolase I deficiency
c.542-1G>T Single submitter
c.626_626+2dup Single submitter dystonia 5
p.Ala196Asp Single submitter GTP cyclohydrolase I deficiency
p.Arg170Ser Single submitter GCH1-related disorder
p.Arg41fs Single submitter GCH1-related disorder
p.Cys18fs Single submitter GCH1-related disorder
p.Gln180Pro Single submitter
p.Glu84Gly Single submitter dystonia 5
p.Gly203_Val204insTer Single submitter
p.Gly4fs Single submitter dystonia 5
p.Ile193Asn Single submitter dystonia 5
p.Leu163Arg Single submitter
p.Leu197fs Single submitter GCH1-related disorder
p.Leu71Pro Single submitter GTP cyclohydrolase I deficiency
p.Leu91Gln Single submitter GTP cyclohydrolase I deficiency
p.Met1Thr Single submitter
p.Met211fs Single submitter
p.Met211Thr Single submitter GTP cyclohydrolase I deficiency
p.Met211Val Single submitter dystonia 5
p.Phe104Leu Single submitter GCH1-related disorder
p.Pro147Leu Single submitter dystonia 5
p.Pro5fs Single submitter
p.Pro86_Gln87insHisGluAsnPro Single submitter GTP cyclohydrolase I deficiency with hyperphenylalaninemia
p.Thr186Ile Single submitter
p.Thr186Pro Single submitter
p.Thr225fs Single submitter dystonia 5
p.Thr94Lys Single submitter dystonia 5
p.Val226fs Single submitter
p.Gln182Lys No assertion criteria dystonia 5

Conflicting classifications of pathogenicity 37

c.509+3A>G Single submitter dystonia 5
c.509+8T>A Single submitter dystonia 5
c.626+5G>A Single submitter GTP cyclohydrolase I deficiency
c.626+9G>T Single submitter GTP cyclohydrolase I deficiency
c.*1010C>T Single submitter GTP cyclohydrolase I deficiency
c.*1044G>A Single submitter GTP cyclohydrolase I deficiency
c.*20C>T Single submitter dystonia 5
c.*727A>G Single submitter GTP cyclohydrolase I deficiency
c.*736A>G Single submitter GTP cyclohydrolase I deficiency
c.*830A>T Single submitter GTP cyclohydrolase I deficiency
c.*93G>A Single submitter dystonia 5
p.Ala169= Single submitter GTP cyclohydrolase I deficiency
p.Ala99= Single submitter dystonia 5
p.Arg178Gly Single submitter GTP cyclohydrolase I deficiency ⚠
p.Arg241Gln Single submitter dystonia 5 ⚠
p.Arg249Gly Single submitter dystonia 5
p.Asp115Asn Single submitter Inborn genetic diseases
p.Asp134Asn Single submitter dystonia 5 ⚠
p.Glu65= Single submitter GTP cyclohydrolase I deficiency
p.Gly108Asp Single submitter dystonia 5 ⚠
p.Gly108Ser Single submitter dystonia 5 ⚠
p.Gly90Arg Single submitter GTP cyclohydrolase I deficiency ⚠
p.Leu92Ile Single submitter BH4-deficient hyperphenylalaninemia A ⚠
p.Lys224Arg Single submitter dystonia 5 ⚠
p.Met102Thr Single submitter dystonia 5 ⚠
p.Met215Thr Single submitter GTP cyclohydrolase I deficiency with hyperphenylalaninemia ⚠
p.Met221Thr Single submitter GTP cyclohydrolase I deficiency ⚠
p.Met230Thr Single submitter dystonia 5 ⚠
p.Pro23Leu Single submitter GTP cyclohydrolase I deficiency ⚠
p.Pro69Leu Single submitter GTP cyclohydrolase I deficiency ⚠
p.Ser80Asn Single submitter GTP cyclohydrolase I deficiency ⚠
p.Thr106Ser Single submitter dystonia 5 ⚠
p.Thr194= Single submitter GTP cyclohydrolase I deficiency
p.Val132Ala Single submitter dystonia 5 ⚠
p.Val181= Single submitter GTP cyclohydrolase I deficiency
p.Val204Ile Single submitter GTP cyclohydrolase I deficiency with hyperphenylalaninemia ⚠
p.Val206Ala Single submitter dystonia 5 ⚠

Benign 28

c.343+53C>G Multiple submitters
c.510-176T>C Multiple submitters
c.-121T>C Multiple submitters GTP cyclohydrolase I deficiency
c.-131C>T Multiple submitters GTP cyclohydrolase I deficiency
c.-40C>T Multiple submitters dystonia 5
c.*1142G>A Multiple submitters GTP cyclohydrolase I deficiency
c.*1183C>T Multiple submitters GTP cyclohydrolase I deficiency
c.*1230C>T Multiple submitters GTP cyclohydrolase I deficiency
c.*243C>T Multiple submitters GTP cyclohydrolase I deficiency
c.*732A>G Multiple submitters GTP cyclohydrolase I deficiency
c.343+136C>T Single submitter
c.343+144C>T Single submitter
c.344-16219C>T Single submitter
c.344-16715G>A Single submitter GTP cyclohydrolase I deficiency
c.453+148A>C Single submitter
c.453+273T>C Single submitter
c.453+283_453+284del Single submitter
c.453+284del Single submitter
c.509+15G>A Single submitter dystonia 5
c.541+311G>C Single submitter
c.541+55del Single submitter
c.542-19C>T Single submitter dystonia 5
c.626+279_626+280dup Single submitter
c.627-163G>A Single submitter
c.627-264A>G Single submitter
c.*1056_*1057insAT Single submitter
c.*1915T>C Single submitter GTP cyclohydrolase I deficiency
c.*883CTT[3] Single submitter

Benign/Likely benign 8

c.-69G>C Multiple submitters GTP cyclohydrolase I deficiency
c.*1122A>T Multiple submitters GTP cyclohydrolase I deficiency
c.*12T>C Multiple submitters GTP cyclohydrolase I deficiency
c.*677G>A Multiple submitters GTP cyclohydrolase I deficiency
p.Leu71= Multiple submitters GTP cyclohydrolase I deficiency
c.*1130C>G Single submitter GTP cyclohydrolase I deficiency
c.*1176C>G Single submitter GTP cyclohydrolase I deficiency
c.*256A>G Single submitter GTP cyclohydrolase I deficiency

Likely benign 167

c.343+7G>A Multiple submitters GTP cyclohydrolase I deficiency
c.343+9G>T Multiple submitters GTP cyclohydrolase I deficiency
c.344-93C>T Multiple submitters
c.509+19T>C Multiple submitters GTP cyclohydrolase I deficiency
c.542-18T>A Multiple submitters dystonia 5
p.Arg198= Multiple submitters GTP cyclohydrolase I deficiency
p.Asn118= Multiple submitters dystonia 5
p.Asp119= Multiple submitters dystonia 5
p.Leu68= Multiple submitters dystonia 5
p.Pro9= Multiple submitters GTP cyclohydrolase I deficiency
p.Val202= Multiple submitters GTP cyclohydrolase I deficiency
c.343+10C>A Single submitter dystonia 5
c.343+10C>T Single submitter GTP cyclohydrolase I deficiency
c.343+11C>T Single submitter dystonia 5
c.343+12C>A Single submitter GTP cyclohydrolase I deficiency
c.343+12C>G Single submitter GTP cyclohydrolase I deficiency
c.343+12dup Single submitter GTP cyclohydrolase I deficiency
c.343+13G>T Single submitter GTP cyclohydrolase I deficiency
c.343+14_343+15del Single submitter GTP cyclohydrolase I deficiency
c.343+14C>G Single submitter GTP cyclohydrolase I deficiency
c.343+15G>C Single submitter
c.343+16G>A Single submitter dystonia 5
c.343+17G>A Single submitter GTP cyclohydrolase I deficiency
c.343+286T>G Single submitter
c.343+7G>T Single submitter GTP cyclohydrolase I deficiency
c.343+8C>A Single submitter dystonia 5
c.343+9G>C Single submitter dystonia 5
c.344-14G>C Single submitter GTP cyclohydrolase I deficiency
c.344-15A>G Single submitter GTP cyclohydrolase I deficiency
c.344-16715G>C Single submitter GTP cyclohydrolase I deficiency
c.344-16715G>T Single submitter GTP cyclohydrolase I deficiency
c.344-9del Single submitter GTP cyclohydrolase I deficiency
c.440_453+9dup Single submitter GTP cyclohydrolase I deficiency
c.453+11C>G Single submitter dystonia 5
c.453+14T>C Single submitter GTP cyclohydrolase I deficiency
c.453+15G>T Single submitter GTP cyclohydrolase I deficiency
c.453+16T>C Single submitter GTP cyclohydrolase I deficiency
c.453+271del Single submitter
c.453+90A>G Single submitter
c.454-11C>T Single submitter dystonia 5
c.454-13C>G Single submitter GTP cyclohydrolase I deficiency
c.454-15G>A Single submitter dystonia 5
c.454-16C>T Single submitter GTP cyclohydrolase I deficiency
c.509+12T>A Single submitter GTP cyclohydrolase I deficiency
c.509+12T>C Single submitter GTP cyclohydrolase I deficiency
c.509+14T>C Single submitter GTP cyclohydrolase I deficiency
c.509+16C>T Single submitter GTP cyclohydrolase I deficiency
c.509+20G>C Single submitter GTP cyclohydrolase I deficiency
c.509+9G>A Single submitter GTP cyclohydrolase I deficiency
c.509+9G>T Single submitter GTP cyclohydrolase I deficiency
c.510-13C>A Single submitter GTP cyclohydrolase I deficiency
c.510-13C>G Single submitter dystonia 5
c.510-14T>A Single submitter GTP cyclohydrolase I deficiency
c.510-16A>G Single submitter dystonia 5
c.510-18C>T Single submitter GTP cyclohydrolase I deficiency
c.510-19A>G Single submitter GTP cyclohydrolase I deficiency
c.510-19A>T Single submitter dystonia 5
c.510-8T>C Single submitter GTP cyclohydrolase I deficiency
c.510-9C>G Single submitter dystonia 5
c.541+10A>G Single submitter GTP cyclohydrolase I deficiency
c.541+15T>C Single submitter GTP cyclohydrolase I deficiency
c.541+209C>T Single submitter
c.542-13A>G Single submitter GTP cyclohydrolase I deficiency
c.542-20G>A Single submitter GTP cyclohydrolase I deficiency
c.542-4A>G Single submitter GTP cyclohydrolase I deficiency
c.542-9C>T Single submitter GTP cyclohydrolase I deficiency
c.626+17C>G Single submitter GTP cyclohydrolase I deficiency
c.626+18T>A Single submitter GTP cyclohydrolase I deficiency
c.626+20T>C Single submitter GTP cyclohydrolase I deficiency
c.626+279dup Single submitter
c.626+7C>G Single submitter GTP cyclohydrolase I deficiency
c.626+7C>T Single submitter dystonia 5
c.626+9G>C Single submitter GTP cyclohydrolase I deficiency
c.627-10del Single submitter GTP cyclohydrolase I deficiency
c.627-14_627-10del Single submitter GTP cyclohydrolase I deficiency
c.627-19G>T Single submitter GTP cyclohydrolase I deficiency
c.627-20T>C Single submitter GTP cyclohydrolase I deficiency
c.627-9A>G Single submitter
c.*173T>C Single submitter
c.*205T>C Single submitter
c.*231A>G Single submitter
c.*950C>T Single submitter
c.*989C>T Single submitter
p.Ala10= Single submitter GTP cyclohydrolase I deficiency
p.Ala101= Single submitter GTP cyclohydrolase I deficiency
p.Ala120= Single submitter GTP cyclohydrolase I deficiency
p.Ala196= Single submitter GTP cyclohydrolase I deficiency
p.Ala47= Single submitter GTP cyclohydrolase I deficiency
p.Ala50= Single submitter GTP cyclohydrolase I deficiency
p.Ala73= Single submitter GTP cyclohydrolase I deficiency
p.Ala98= Single submitter dystonia 5
p.Arg14= Single submitter dystonia 5
p.Arg235= Single submitter dystonia 5
p.Arg241= Single submitter GTP cyclohydrolase I deficiency
p.Arg25= Single submitter GTP cyclohydrolase I deficiency
p.Asn64= Single submitter GTP cyclohydrolase I deficiency
p.Asn85= Single submitter GTP cyclohydrolase I deficiency
p.Asp123= Single submitter dystonia 5
p.Asp136= Single submitter dystonia 5
p.Asp51= Single submitter dystonia 5
p.Glu11= Single submitter dystonia 5
p.Glu111= Single submitter GTP cyclohydrolase I deficiency
p.Glu183= Single submitter GTP cyclohydrolase I deficiency
p.Glu2= Single submitter GTP cyclohydrolase I deficiency
p.Glu24= Single submitter GTP cyclohydrolase I deficiency
p.Glu37= Single submitter GTP cyclohydrolase I deficiency
p.Glu56= Single submitter GTP cyclohydrolase I deficiency
p.Glu61= Single submitter GTP cyclohydrolase I deficiency
p.Glu62= Single submitter dystonia 5
p.Glu84= Single submitter dystonia 5
p.Gly108= Single submitter dystonia 5
p.Gly217= Single submitter dystonia 5
p.Gly31= Single submitter GTP cyclohydrolase I deficiency
p.Gly4= Single submitter dystonia 5
p.Gly52= Single submitter GTP cyclohydrolase I deficiency
p.Gly55= Single submitter dystonia 5
p.Gly83= Single submitter GTP cyclohydrolase I deficiency
p.Gly90= Single submitter GTP cyclohydrolase I deficiency
p.His144= Single submitter GTP cyclohydrolase I deficiency
p.Ile113= Single submitter GTP cyclohydrolase I deficiency
p.Ile189= Single submitter GTP cyclohydrolase I deficiency
p.Ile78= Single submitter GTP cyclohydrolase I deficiency
p.Leu117= Single submitter GTP cyclohydrolase I deficiency
p.Leu145= Single submitter GTP cyclohydrolase I deficiency
p.Leu168= Single submitter GTP cyclohydrolase I deficiency
p.Leu185= Single submitter GTP cyclohydrolase I deficiency
p.Leu231= Single submitter GTP cyclohydrolase I deficiency
p.Leu66= Single submitter GTP cyclohydrolase I deficiency
p.Leu79= Single submitter GTP cyclohydrolase I deficiency
p.Leu82= Single submitter GTP cyclohydrolase I deficiency
p.Leu91= Single submitter GTP cyclohydrolase I deficiency
p.Lys160= Single submitter GTP cyclohydrolase I deficiency
p.Lys239= Single submitter GTP cyclohydrolase I deficiency
p.Lys54= Single submitter GTP cyclohydrolase I deficiency
p.Phe22= Single submitter GTP cyclohydrolase I deficiency
p.Phe244= Single submitter dystonia 5
p.Pro13= Single submitter dystonia 5
p.Pro158= Single submitter dystonia 5
p.Pro23= Single submitter GTP cyclohydrolase I deficiency
p.Pro238= Single submitter GTP cyclohydrolase I deficiency
p.Pro27= Single submitter dystonia 5
p.Pro30= Single submitter dystonia 5
p.Pro32= Single submitter GTP cyclohydrolase I deficiency
p.Pro40= Single submitter GTP cyclohydrolase I deficiency
p.Pro42= Single submitter GTP cyclohydrolase I deficiency
p.Pro49= Single submitter GTP cyclohydrolase I deficiency
p.Pro49Ala Single submitter GTP cyclohydrolase I deficiency
p.Pro58= Single submitter GTP cyclohydrolase I deficiency
p.Pro86= Single submitter GTP cyclohydrolase I deficiency
p.Ser100= Single submitter GTP cyclohydrolase I deficiency
p.Ser114= Single submitter
p.Ser166= Single submitter dystonia 5
p.Ser81= Single submitter dystonia 5
p.Ter251= Single submitter GTP cyclohydrolase I deficiency
p.Thr112= Single submitter GTP cyclohydrolase I deficiency
p.Thr225= Single submitter GTP cyclohydrolase I deficiency
p.Thr229= Single submitter GTP cyclohydrolase I deficiency
p.Tyr109= Single submitter GTP cyclohydrolase I deficiency
p.Tyr175= Single submitter GTP cyclohydrolase I deficiency
p.Tyr75= Single submitter dystonia 5
p.Val116= Single submitter dystonia 5
p.Val130= Single submitter GTP cyclohydrolase I deficiency
p.Val162= Single submitter GTP cyclohydrolase I deficiency
p.Val191= Single submitter GTP cyclohydrolase I deficiency
p.Val205= Single submitter GTP cyclohydrolase I deficiency
p.Val206= Single submitter
p.Val214= Single submitter dystonia 5

Uncertain significance 247

c.343+3C>T Multiple submitters Inborn genetic diseases
c.453+6G>A Multiple submitters dystonia 5
c.-106G>A Multiple submitters GTP cyclohydrolase I deficiency
c.-56G>A Multiple submitters GTP cyclohydrolase I deficiency
c.-5G>C Multiple submitters GTP cyclohydrolase I deficiency
c.*1033C>T Multiple submitters GTP cyclohydrolase I deficiency
c.*1628A>C Multiple submitters GTP cyclohydrolase I deficiency
c.*197C>T Multiple submitters
c.*34C>T Multiple submitters GTP cyclohydrolase I deficiency
c.*441G>A Multiple submitters GTP cyclohydrolase I deficiency
p.Ala101Thr Multiple submitters ⚠
p.Ala169Gly Multiple submitters dystonia 5 ⚠
p.Ala196Ser Multiple submitters dystonia 5 ⚠
p.Ala200Gly Multiple submitters GTP cyclohydrolase I deficiency ⚠
p.Ala8Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala99Pro Multiple submitters dystonia 5 ⚠
p.Arg198Trp Multiple submitters GTP cyclohydrolase I deficiency ⚠
p.Arg216Gln Multiple submitters GTP cyclohydrolase I deficiency ⚠
p.Arg235Gln Multiple submitters dystonia 5 ⚠
p.Arg235Trp Multiple submitters GTP cyclohydrolase I deficiency ⚠
p.Arg25Trp Multiple submitters Inborn genetic diseases ⚠
p.Asn20Ser Multiple submitters GTP cyclohydrolase I deficiency ⚠
p.Asp51Glu Multiple submitters dystonia 5 ⚠
p.Gln110Glu Multiple submitters dystonia 5 ⚠
p.Gln87Pro Multiple submitters GTP cyclohydrolase I deficiency ⚠
p.Glu195Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu65Gln Multiple submitters Inborn genetic diseases ⚠
p.Gly164Ala Multiple submitters dystonia 5 ⚠
p.Gly217Val Multiple submitters GTP cyclohydrolase I deficiency ⚠
p.Gly232Arg Multiple submitters GTP cyclohydrolase I deficiency ⚠
p.Gly4Asp Multiple submitters dystonia 5 ⚠
p.Gly4Ser Multiple submitters dystonia 5 ⚠
p.Gly52Arg Multiple submitters dystonia 5 ⚠
p.Gly52Cys Multiple submitters GTP cyclohydrolase I deficiency ⚠
p.Leu179Pro Multiple submitters ⚠
p.Leu68Phe Multiple submitters dystonia 5
p.Leu92Phe Multiple submitters dystonia 5 ⚠
p.Lys93Asn Multiple submitters Inborn genetic diseases ⚠
p.Met140Ile Multiple submitters GTP cyclohydrolase I deficiency ⚠
p.Phe122Leu Multiple submitters GTP cyclohydrolase I deficiency ⚠
p.Pro238Thr Multiple submitters GTP cyclohydrolase I deficiency ⚠
p.Pro28Leu Multiple submitters GTP cyclohydrolase I deficiency ⚠
p.Pro40Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser100Leu Multiple submitters dystonia 5 ⚠
p.Ser46Arg Multiple submitters GTP cyclohydrolase I deficiency ⚠
p.Ser80Cys Multiple submitters GTP cyclohydrolase I deficiency ⚠
p.Thr112Ala Multiple submitters GTP cyclohydrolase I deficiency ⚠
p.Thr209Arg Multiple submitters GTP cyclohydrolase I deficiency ⚠
p.Thr209Ile Multiple submitters GTP cyclohydrolase I deficiency
p.Thr209Pro Multiple submitters ⚠
p.Thr246Ile Multiple submitters dystonia 5 ⚠
p.Tyr175Phe Multiple submitters Inborn genetic diseases ⚠
p.Val181Ile Multiple submitters dystonia 5
p.Val191Ile Multiple submitters dystonia 5 ⚠
p.Val226Glu Multiple submitters Inborn genetic diseases ⚠
p.Val6Leu Multiple submitters GTP cyclohydrolase I deficiency ⚠
c.343+17226A>G Single submitter
c.344-3C>G Single submitter GTP cyclohydrolase I deficiency
c.453+6G>T Single submitter dystonia 5
c.509+2795T>A Single submitter dystonia 5
c.509+6T>C Single submitter dystonia 5
c.542-12T>C Single submitter GTP cyclohydrolase I deficiency
c.542-5C>G Single submitter GTP cyclohydrolase I deficiency
c.626+3_626+4insTT Single submitter
c.626+5G>C Single submitter dystonia 5
c.626+6T>G Single submitter GTP cyclohydrolase I deficiency
c.627-12C>T Single submitter GTP cyclohydrolase I deficiency
c.627-2A>G Single submitter GTP cyclohydrolase I deficiency
c.627-9_627-7del Single submitter GTP cyclohydrolase I deficiency
c.-125A>C Single submitter GTP cyclohydrolase I deficiency
c.-13C>T Single submitter
c.-26C>T Single submitter
c.-37G>A Single submitter
c.-39C>T Single submitter
c.-72C>T Single submitter GTP cyclohydrolase I deficiency
c.*1042A>G Single submitter GTP cyclohydrolase I deficiency
c.*1058G>A Single submitter GTP cyclohydrolase I deficiency
c.*1257C>T Single submitter GTP cyclohydrolase I deficiency
c.*1283A>C Single submitter GTP cyclohydrolase I deficiency
c.*1294A>G Single submitter GTP cyclohydrolase I deficiency
c.*139T>G Single submitter dystonia 5
c.*1473A>G Single submitter GTP cyclohydrolase I deficiency
c.*150A>G Single submitter
c.*1719C>T Single submitter GTP cyclohydrolase I deficiency
c.*179C>G Single submitter
c.*1824A>C Single submitter GTP cyclohydrolase I deficiency
c.*1855A>G Single submitter GTP cyclohydrolase I deficiency
c.*1907A>G Single submitter GTP cyclohydrolase I deficiency
c.*196C>A Single submitter
c.*21G>A Single submitter
c.*243C>G Single submitter GTP cyclohydrolase I deficiency
c.*278C>T Single submitter GTP cyclohydrolase I deficiency
c.*367G>A Single submitter GTP cyclohydrolase I deficiency
c.*507C>G Single submitter GTP cyclohydrolase I deficiency
c.*612C>T Single submitter GTP cyclohydrolase I deficiency
c.*617A>G Single submitter GTP cyclohydrolase I deficiency
c.*641G>A Single submitter GTP cyclohydrolase I deficiency
c.*695T>A Single submitter GTP cyclohydrolase I deficiency
c.*715G>T Single submitter GTP cyclohydrolase I deficiency
c.*721A>G Single submitter GTP cyclohydrolase I deficiency
c.*935A>C Single submitter dystonia 5
p.Ala10Thr Single submitter GTP cyclohydrolase I deficiency ⚠
p.Ala192Val Single submitter dystonia 5 ⚠
p.Ala36Val Single submitter dystonia 5 ⚠
p.Ala44Val Single submitter GTP cyclohydrolase I deficiency ⚠
p.Ala47Glu Single submitter GTP cyclohydrolase I deficiency ⚠
p.Ala47Val Single submitter GTP cyclohydrolase I deficiency ⚠
p.Ala72Gly Single submitter dystonia 5
p.Ala73Val Single submitter ⚠
p.Ala8Pro Single submitter GTP cyclohydrolase I deficiency ⚠
p.Ala8Ser Single submitter GTP cyclohydrolase I deficiency ⚠
p.Ala98Pro Single submitter ⚠
p.Ala99Ser Single submitter ⚠
p.Arg170Gly Single submitter GTP cyclohydrolase I deficiency ⚠
p.Arg178Lys Single submitter GTP cyclohydrolase I deficiency ⚠
p.Arg198Gln Single submitter dystonia 5 ⚠
p.Arg216Pro Single submitter dystonia 5 ⚠
p.Arg241Trp Single submitter dystonia 5 ⚠
p.Arg249_Ser250delinsSerCys Single submitter GTP cyclohydrolase I deficiency
p.Arg249Ser Single submitter GTP cyclohydrolase I deficiency ⚠
p.Arg57Gln Single submitter GTP cyclohydrolase I deficiency ⚠
p.Arg59Gly Single submitter dystonia 5
p.Arg7Trp Single submitter ⚠
p.Arg97Trp Single submitter dystonia 5 ⚠
p.Asn159Ser Single submitter GTP cyclohydrolase I deficiency ⚠
p.Asn222= Single submitter GTP cyclohydrolase I deficiency
p.Asn222Tyr Single submitter ⚠
p.Asn67Lys Single submitter
p.Asp115Tyr Single submitter GTP cyclohydrolase I deficiency ⚠
p.Asp119Asn Single submitter dystonia 5 ⚠
p.Asp123Asn Single submitter GTP cyclohydrolase I deficiency ⚠
p.Asp123Glu Single submitter GTP cyclohydrolase I deficiency
p.Asp123Gly Single submitter GTP cyclohydrolase I deficiency ⚠
p.Asp134Gly Single submitter GTP cyclohydrolase I deficiency ⚠
p.Asp237Asn Single submitter GTP cyclohydrolase I deficiency ⚠
p.Asp63Asn Single submitter GTP cyclohydrolase I deficiency ⚠
p.Asp63Gly Single submitter
p.Cys141Ser Single submitter GTP cyclohydrolase I deficiency ⚠
p.Cys141Trp Single submitter GTP cyclohydrolase I deficiency ⚠
p.Cys18Tyr Single submitter GTP cyclohydrolase I deficiency ⚠
p.Cys212Arg Single submitter GTP cyclohydrolase I deficiency ⚠
p.Cys212Tyr Single submitter GTP cyclohydrolase I deficiency ⚠
p.Gln103Arg Single submitter GTP cyclohydrolase I deficiency ⚠
p.Gln103His Single submitter dystonia 5 ⚠
p.Gln161Lys Single submitter ⚠
p.Gln48Lys Single submitter Inborn genetic diseases ⚠
p.Gln87His Single submitter GTP cyclohydrolase I deficiency ⚠
p.Gln89Arg Single submitter dystonia 5 ⚠
p.Glu111del Single submitter
p.Glu207Asp Single submitter GTP cyclohydrolase I deficiency ⚠
p.Glu24Asp Single submitter GTP cyclohydrolase I deficiency ⚠
p.Glu2Lys Single submitter ⚠
p.Glu62Asp Single submitter GTP cyclohydrolase I deficiency ⚠
p.Glu62Gln Single submitter ⚠
p.Glu65Val Single submitter dystonia 5 ⚠
p.Glu84Gln Single submitter dystonia 5 ⚠
p.Gly15Ser Single submitter dystonia 5 ⚠
p.Gly217Ser Single submitter dystonia 5 ⚠
p.Gly21Trp Single submitter GTP cyclohydrolase I deficiency
p.Gly232Asp Single submitter GTP cyclohydrolase I deficiency ⚠
p.Gly232Cys Single submitter dystonia 5 ⚠
p.Gly31Arg Single submitter GTP cyclohydrolase I deficiency ⚠
p.Gly52Ser Single submitter dystonia 5 ⚠
p.Gly55Asp Single submitter GTP cyclohydrolase I deficiency ⚠
p.Gly55Ser Single submitter GTP cyclohydrolase I deficiency ⚠
p.Gly83Asp Single submitter dystonia 5 ⚠
p.His126Arg Single submitter dystonia 5 ⚠
p.His126Leu Single submitter GTP cyclohydrolase I deficiency with hyperphenylalaninemia ⚠
p.His143Arg Single submitter ⚠
p.His144Arg Single submitter Inborn genetic diseases ⚠
p.His153Arg Single submitter dystonia 5 ⚠
p.His153Tyr Single submitter ⚠
p.Ile113Met Single submitter dystonia 5
p.Ile121Met Single submitter dystonia 5
p.Ile121Val Single submitter GTP cyclohydrolase I deficiency ⚠
p.Ile154Met Single submitter dystonia 5 ⚠
p.Ile154Val Single submitter GTP cyclohydrolase I deficiency ⚠
p.Ile174Phe Single submitter Inborn genetic diseases ⚠
p.Ile174Thr Single submitter Inborn genetic diseases ⚠
p.Ile78Met Single submitter ⚠
p.Leu145Phe Single submitter GTP cyclohydrolase I deficiency ⚠
p.Leu165Phe Single submitter dystonia 5 ⚠
p.Leu185Arg Single submitter ⚠
p.Leu197Phe Single submitter GTP cyclohydrolase I deficiency ⚠
p.Leu231Phe Single submitter ⚠
p.Leu245Pro Single submitter ⚠
p.Leu66Pro Single submitter GTP cyclohydrolase I deficiency
p.Leu79Met Single submitter ⚠
p.Leu92Pro Single submitter dystonia 5 ⚠
p.Lys107Arg Single submitter ⚠
p.Lys107Asn Single submitter dystonia 5 ⚠
p.Lys151Arg Single submitter dystonia 5 ⚠
p.Lys224Thr Single submitter
p.Lys93Arg Single submitter GTP cyclohydrolase I deficiency ⚠
p.Met102Leu Single submitter ⚠
p.Met102Val Single submitter Inborn genetic diseases ⚠
p.Met140Val Single submitter GTP cyclohydrolase I deficiency ⚠
p.Met221Val Single submitter dystonia 5 ⚠
p.Met230Ile Single submitter GTP cyclohydrolase I deficiency ⚠
p.Phe22Val Single submitter ⚠
p.Phe244Leu Single submitter ⚠
p.Pro147Ser Single submitter ⚠
p.Pro147Thr Single submitter GTP cyclohydrolase I deficiency ⚠
p.Pro158Leu Single submitter ⚠
p.Pro199Leu Single submitter GTP cyclohydrolase I deficiency ⚠
p.Pro27Leu Single submitter GTP cyclohydrolase I deficiency ⚠
p.Pro28Ser Single submitter dystonia 5 ⚠
p.Pro30Arg Single submitter dystonia 5 ⚠
p.Pro30Ser Single submitter GTP cyclohydrolase I deficiency ⚠
p.Pro39Thr Single submitter dystonia 5 ⚠
p.Pro49His Single submitter GTP cyclohydrolase I deficiency ⚠
p.Pro49Leu Single submitter Inborn genetic diseases ⚠
p.Pro49Ser Single submitter dystonia 5 ⚠
p.Pro58Ser Single submitter dystonia 5 ⚠
p.Pro5Ala Single submitter GTP cyclohydrolase I deficiency ⚠
p.Pro69Ser Single submitter ⚠
p.Pro86Arg Single submitter GTP cyclohydrolase I deficiency ⚠
p.Pro95Leu Single submitter ⚠
p.Pro9Ser Single submitter GTP cyclohydrolase I deficiency ⚠
p.Ser100Pro Single submitter dystonia 5 ⚠
p.Ser139Phe Single submitter dystonia 5 ⚠
p.Ser223Arg Single submitter ⚠
p.Ser250= Single submitter GTP cyclohydrolase I deficiency
p.Ser250Cys Single submitter ⚠
p.Ser250Gly Single submitter ⚠
p.Ser250Ile Single submitter GTP cyclohydrolase I deficiency ⚠
p.Ser33Cys Single submitter dystonia 5 ⚠
p.Ser46Asn Single submitter GTP cyclohydrolase I deficiency ⚠
p.Ser77_Leu82del Single submitter dystonia 5
p.Ser77Cys Single submitter dystonia 5 ⚠
p.Ser81Pro Single submitter GTP cyclohydrolase I deficiency ⚠
p.Ter251Cys Single submitter GTP cyclohydrolase I deficiency
p.Ter251Trp Single submitter GTP cyclohydrolase I deficiency
p.Thr112Ser Single submitter ⚠
p.Thr194Met Single submitter dystonia 5 ⚠
p.Thr227Ala Single submitter ⚠
p.Thr94Ala Single submitter GTP cyclohydrolase I deficiency ⚠
p.Thr94Ser Single submitter dystonia 5 ⚠
p.Trp53Leu Single submitter GTP cyclohydrolase I deficiency
p.Tyr175Cys Single submitter intellectual disability ⚠
p.Val132Met Single submitter GTP cyclohydrolase I deficiency ⚠
p.Val172Ile Single submitter GTP cyclohydrolase I deficiency with hyperphenylalaninemia ⚠
p.Val172Leu Single submitter GTP cyclohydrolase I deficiency ⚠
p.Val214Ala Single submitter GTP cyclohydrolase I deficiency ⚠
p.Val226Leu Single submitter dystonia 5 ⚠
p.Gly31Val No assertion criteria GCH1-related disorder ⚠
p.Lys107Met No assertion criteria GTP cyclohydrolase I deficiency with hyperphenylalaninemia ⚠