TH — 1167 ClinVar variants

All ClinVar germline TH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 352 flagged for review →

44 Pathogenic · 28 Pathogenic/Likely pathogenic · 109 Likely pathogenic · 52 Conflicting · 38 Benign · 11 Benign/Likely benign · 502 Likely benign · 383 Uncertain significance

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

⚑ Evidence disagreements 352

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 vs ClinVar 8

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

TH p.Arg214Met Pathogenic/Likely pathogenic Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Asp467Gly Pathogenic/Likely pathogenic Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Gln381Lys Pathogenic/Likely pathogenic Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Gly216Ser Pathogenic/Likely pathogenic Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Gly383Arg Pathogenic/Likely pathogenic Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Asp467Tyr Likely pathogenic Single submitter
TH-deficient dopa-responsive dystonia
TH p.Gln212Pro Likely pathogenic Single submitter
TH-deficient dopa-responsive dystonia
TH p.His215Tyr Likely pathogenic Single submitter
TH-deficient dopa-responsive dystonia

Predictors agree, ClinVar conflicts 15

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

TH c.91-868C>T Conflicting Single submitter
TH-deficient dopa-responsive dystonia
TH c.91-896G>A Conflicting Single submitter
Inborn genetic diseases
TH p.Ala23Thr Conflicting Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg122Gln Conflicting Single submitter
Inborn genetic diseases
TH p.Arg453His Conflicting Single submitter
TH-deficient dopa-responsive dystonia
TH p.Glu27Asp Conflicting Single submitter
TH-deficient dopa-responsive dystonia
TH p.Gly481Asp Conflicting Single submitter
TH-deficient dopa-responsive dystonia
TH p.Phe194Leu Conflicting Single submitter
Inborn genetic diseases
TH p.Pro121Leu Conflicting Single submitter
TH-deficient dopa-responsive dystonia
TH p.Pro2Leu Conflicting Single submitter
TH-deficient dopa-responsive dystonia
TH p.Pro337Leu Conflicting Single submitter
TH-deficient dopa-responsive dystonia
TH p.Pro88Leu Conflicting Single submitter
TH-deficient dopa-responsive dystonia
TH p.Thr373Met Conflicting Single submitter
TH-deficient dopa-responsive dystonia
TH p.Thr463Met Conflicting Single submitter
TH-related disorders
TH p.Thr283Met Conflicting No assertion criteria
TH-deficient dopa-responsive dystonia

Predictors lean, ClinVar uncertain 226

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 226

TH c.90+7G>T Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH c.91-853C>T Uncertain significance Multiple submitters
Inborn genetic diseases
TH c.91-892C>T Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Ala11Gly Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Ala159Val Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Ala226Thr Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Ala244Pro Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Ala247Thr Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Ala317Glu Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Ala317Gly Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Ala52Val Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Ala56Val Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Ala95Glu Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Ala95Gly Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Ala95Val Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Arg133Cys Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Arg133His Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Arg137Cys Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Arg138Gln Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Arg200His Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Arg33Gln Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Arg33Trp Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Arg37Cys Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Arg450Cys Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Arg476Gln Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Arg98Gln Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Asp188His Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Asp217Asn Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Asp460Asn Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Asp487Gly Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Asp5Asn Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Gln39Glu Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Glu114Lys Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Glu129Ala Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Glu153Gly Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Glu384Gly Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Glu74Gln Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Gly357Arg Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Gly377Arg Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Gly497Asp Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Gly65Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Ile206Thr Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Ile229Thr Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Ile35Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Leu173Met Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Leu252Pro Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Lys24Arg Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Phe131Val Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Pro324Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Pro454His Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Pro67Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Ser429Pro Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Ser62Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Thr181Ser Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Thr238Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Thr7Pro Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Thr8Met Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Val100Met Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Val102Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Val151Ala Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Val18Met Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Val475Met Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH c.91-819G>T Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH c.91-847C>T Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH c.91-851G>A Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH c.91-854G>A Uncertain significance Single submitter
Inborn genetic diseases
TH c.91-856C>A Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH c.91-866T>C Uncertain significance Single submitter
Inborn genetic diseases
TH c.91-875G>A Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH c.91-886C>T Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH c.91-893C>T Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala118Ser Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala11Asp Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala11Thr Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala142Ser Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala143Asp Uncertain significance Single submitter
Inborn genetic diseases
TH p.Ala143Thr Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala159Thr Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala210Val Uncertain significance Single submitter
TH p.Ala244Ser Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala244Thr Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala247Asp Uncertain significance Single submitter
Inborn genetic diseases
TH p.Ala247Pro Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala256Gly Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala291Val Uncertain significance Single submitter
Inborn genetic diseases
TH p.Ala417Val Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala465Thr Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala465Val Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala51Thr Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala51Val Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala58Asp Uncertain significance Single submitter
Inborn genetic diseases
TH p.Ala58Thr Uncertain significance Single submitter
Inborn genetic diseases
TH p.Ala58Val Uncertain significance Single submitter
Inborn genetic diseases
TH p.Ala6Ser Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg116Pro Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg120Lys Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg133Leu Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg138Gly Uncertain significance Single submitter
Inborn genetic diseases
TH p.Arg149His Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg149Leu Uncertain significance Single submitter
TH p.Arg156His Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg15Cys Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg168Lys Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg200Cys Uncertain significance Single submitter
TH p.Arg221Leu Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg260Ser Uncertain significance Single submitter
Inborn genetic diseases
TH p.Arg277Ser Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg288Trp Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg297Gln Uncertain significance Single submitter
TH p.Arg450His Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg450Ser Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg477His Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Asp140Asn Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Asp140His Uncertain significance Single submitter
Inborn genetic diseases
TH p.Asp424Ala Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Asp442His Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Asp460Tyr Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Asp467Glu Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Asp487His Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Asp66Ala Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Cys248Ser Uncertain significance Single submitter
Inborn genetic diseases
TH p.Gln212Arg Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Gln346His Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Gln349His Uncertain significance Single submitter
TH p.Gln381His Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Glu129Lys Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Glu135Lys Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Glu153Lys Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Glu227Ala Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Glu234Asp Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Glu250Val Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Glu325Gln Uncertain significance Single submitter
TH p.Glu331Lys Uncertain significance Single submitter
TH p.Glu362Lys Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Glu398Lys Uncertain significance Single submitter
TH p.Glu480Asp Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Glu69Gln Uncertain significance Single submitter
TH p.Glu69Lys Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Glu74Asp Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Glu75Asp Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Gly13Ala Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Gly160Glu Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Gly193Ser Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Gly216Arg Uncertain significance Single submitter
TH p.Gly216Asp Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Gly241Asp Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Gly383Trp Uncertain significance Single submitter
TH p.Gly391Arg Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Gly481Ser Uncertain significance Single submitter
Inborn genetic diseases
TH p.Gly481Val Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia

Predictors split 103

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

TH p.Ala210Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Ala440Ser Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Ala492Val Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Arg156Cys Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Arg15Leu Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Arg221Gly Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Arg265Gln Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Arg265Gly Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Arg342Cys Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Arg342Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Arg37His Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Arg410Gln Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Arg410Leu Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Arg98Pro Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Asp184Asn Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Asp267His Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Glu253Val Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.His178Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Pro218Leu Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Ser434Cys Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Thr115Ile Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Thr225Asn Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Thr245Pro Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Thr426Met Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Val136Met Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Val155Met Uncertain significance Multiple submitters
Inborn genetic diseases
TH p.Val433Met Uncertain significance Multiple submitters
TH-deficient dopa-responsive dystonia
TH p.Ala17Asp Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala17Pro Uncertain significance Single submitter
Inborn genetic diseases
TH p.Ala210Gly Uncertain significance Single submitter
TH p.Ala256Val Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala301Ser Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala301Thr Uncertain significance Single submitter
TH p.Ala354Val Conflicting Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala358Thr Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala440Thr Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg116Gln Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg149Cys Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg16Gly Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg221Cys Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg260Gly Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg260Leu Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg410Trp Conflicting Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg476Trp Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg477Cys Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg477Pro Uncertain significance Single submitter
TH p.Arg49Gln Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Arg49Trp Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Asp184His Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Asp274Gly Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Asp413His Uncertain significance Single submitter
Inborn genetic diseases
TH p.Asp439Gly Uncertain significance Single submitter
TH p.Asp484His Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Gln25Pro Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Glu104Gln Uncertain significance Single submitter
Inborn genetic diseases
TH p.Glu20Lys Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Glu227Gly Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Glu227Lys Conflicting Single submitter
TH-deficient dopa-responsive dystonia
TH p.Glu234Lys Uncertain significance Single submitter
Inborn genetic diseases
TH p.Glu250Gln Uncertain significance Single submitter
TH p.Glu273Ala Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Glu273Gly Uncertain significance Single submitter
TH p.Glu485Lys Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Glu48Lys Uncertain significance Single submitter
TH p.Gly263Arg Conflicting Single submitter
TH-deficient dopa-responsive dystonia
TH p.Gly263Ser Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Gly36Val Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ile209Met Conflicting Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ile229Phe Likely benign Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ile496Thr Uncertain significance Single submitter
TH p.Leu145His Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Leu242Phe Conflicting Single submitter
TH-deficient dopa-responsive dystonia
TH p.Leu444Phe Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Lys182Gln Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Phe131Ser Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Phe14Leu Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Phe211Leu Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Phe255Leu Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Phe432Leu Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Pro218Ser Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Pro407Ala Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Pro421Leu Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ser19Cys Conflicting Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ser31Tyr Uncertain significance Single submitter
Inborn genetic diseases
TH p.Ser359Leu Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ser40Arg Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ser456Cys Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Thr105Met Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Thr238Met Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Thr368Ser Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Tyr243His Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Tyr396His Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Val275Ile Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Val385Ala Uncertain significance Single submitter
TH p.Val419Met Conflicting Single submitter
TH-deficient dopa-responsive dystonia
TH p.Val430Ile Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Val457Met Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Val468Met Conflicting Single submitter
Inborn genetic diseases
TH p.Val482Ala Uncertain significance Single submitter
TH-deficient dopa-responsive dystonia
TH p.Ala45Thr Uncertain significance No assertion criteria
TH-deficient dopa-responsive dystonia
TH p.Arg265Trp Uncertain significance No assertion criteria
TH-deficient dopa-responsive dystonia
TH p.Gln423Glu Uncertain significance No assertion criteria
TH-deficient dopa-responsive dystonia
TH p.Gly241Cys Uncertain significance No assertion criteria
TH-deficient dopa-responsive dystonia

All TH variants

Pathogenic 44

c.488-1G>A Multiple submitters TH-deficient dopa-responsive dystonia
p.Arg122Ter Multiple submitters TH-deficient dopa-responsive dystonia
p.Arg202His Multiple submitters TH-deficient dopa-responsive dystonia
p.Gln150Ter Multiple submitters dystonic disorder
p.Gln201Ter Multiple submitters TH-deficient dopa-responsive dystonia
p.Gln428Ter Multiple submitters TH-deficient dopa-responsive dystonia
p.Tyr224Ter Multiple submitters Inborn genetic diseases
c.91-833dup Single submitter TH-deficient dopa-responsive dystonia
c.91-835AC[3] Single submitter TH-deficient dopa-responsive dystonia
c.91-883dup Single submitter TH-deficient dopa-responsive dystonia
c.977+1G>T Single submitter TH-deficient dopa-responsive dystonia
p.Ala418fs Single submitter TH-deficient dopa-responsive dystonia
p.Ala95fs Single submitter TH-deficient dopa-responsive dystonia
p.Arg260fs Single submitter TH-deficient dopa-responsive dystonia
p.Arg306fs Single submitter TH-deficient dopa-responsive dystonia
p.Asp5fs Single submitter TH-deficient dopa-responsive dystonia
p.Cys248fs Single submitter TH-deficient dopa-responsive dystonia
p.Cys328fs Single submitter TH-deficient dopa-responsive dystonia
p.Gln309Ter Single submitter TH-deficient dopa-responsive dystonia
p.Gln452Ter Single submitter TH-deficient dopa-responsive dystonia
p.Glu266Ter Single submitter TH-deficient dopa-responsive dystonia
p.Glu27fs Single submitter TH-deficient dopa-responsive dystonia
p.Glu331Ter Single submitter TH-deficient dopa-responsive dystonia
p.Gly263fs Single submitter TH-deficient dopa-responsive dystonia
p.His330fs Single submitter TH-deficient dopa-responsive dystonia
p.Leu239fs Single submitter TH-deficient dopa-responsive dystonia
p.Leu300fs Single submitter TH-deficient dopa-responsive dystonia
p.Lys182fs Single submitter TH-deficient dopa-responsive dystonia
p.Lys380Ter Single submitter TH-deficient dopa-responsive dystonia
p.Lys47fs Single submitter TH-deficient dopa-responsive dystonia
p.Pro88fs Single submitter TH-deficient dopa-responsive dystonia
p.Ser195Ter Single submitter TH-deficient dopa-responsive dystonia
p.Ser394fs Single submitter TH-deficient dopa-responsive dystonia
p.Ser456_Val457insTer Single submitter TH-deficient dopa-responsive dystonia
p.Ser94Ter Single submitter TH-deficient dopa-responsive dystonia
p.Trp165Ter Single submitter TH-deficient dopa-responsive dystonia
p.Tyr130fs Single submitter TH-deficient dopa-responsive dystonia
p.Tyr447Ter Single submitter TH-deficient dopa-responsive dystonia
p.Val170fs Single submitter TH-deficient dopa-responsive dystonia
p.Val198fs Single submitter TH-deficient dopa-responsive dystonia
p.Val81fs Single submitter TH-deficient dopa-responsive dystonia
c.1105-24T>A No assertion criteria TH-deficient dopa-responsive dystonia
c.91_113del No assertion criteria TH-deficient dopa-responsive dystonia
p.Leu68fs No assertion criteria TH-deficient dopa-responsive dystonia

Pathogenic/Likely pathogenic 28

c.90+10C>T Multiple submitters TH-deficient dopa-responsive dystonia
c.90+7dup Multiple submitters TH-related disorders
c.-71C>T Multiple submitters TH-deficient dopa-responsive dystonia
p.Ala210Thr Multiple submitters TH-deficient dopa-responsive dystonia
p.Arg138Ter Multiple submitters TH-deficient dopa-responsive dystonia
p.Arg214Met Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Arg297Trp Multiple submitters TH-deficient dopa-responsive dystonia
p.Arg306His Multiple submitters TH-deficient dopa-responsive dystonia
p.Arg98Ter Multiple submitters TH-deficient dopa-responsive dystonia
p.Asp467Gly Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Gln312Ter Multiple submitters TH-deficient dopa-responsive dystonia
p.Gln346fs Multiple submitters TH-deficient dopa-responsive dystonia
p.Gln381Lys Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Glu266fs Multiple submitters TH-deficient dopa-responsive dystonia
p.Glu375fs Multiple submitters TH-deficient dopa-responsive dystonia
p.Glu375Ter Multiple submitters TH-deficient dopa-responsive dystonia
p.Gly216Ser Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Gly284Ser Multiple submitters TH-deficient dopa-responsive dystonia
p.Gly383Arg Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Gly397Arg Multiple submitters TH-deficient dopa-responsive dystonia
p.Ile351Thr Multiple submitters TH-deficient dopa-responsive dystonia
p.Leu205Pro Multiple submitters TH-deficient dopa-responsive dystonia
p.Pro461Leu Multiple submitters TH-deficient dopa-responsive dystonia
p.Ser195fs Multiple submitters TH-deficient dopa-responsive dystonia
p.Ser404fs Multiple submitters TH-deficient dopa-responsive dystonia
p.Thr238fs Multiple submitters TH-deficient dopa-responsive dystonia
p.Thr368Met Multiple submitters TH-deficient dopa-responsive dystonia
p.Val18fs Multiple submitters TH-deficient dopa-responsive dystonia

Likely pathogenic 109

c.1200+2T>C Multiple submitters TH-deficient dopa-responsive dystonia
c.1334+1G>A Multiple submitters TH-deficient dopa-responsive dystonia
c.312+1G>A Multiple submitters TH-deficient dopa-responsive dystonia
c.644+1G>A Multiple submitters TH-deficient dopa-responsive dystonia
c.695+1G>C Multiple submitters TH-deficient dopa-responsive dystonia
c.90+13G>A Multiple submitters TH-deficient dopa-responsive dystonia
c.90+13G>T Multiple submitters TH-deficient dopa-responsive dystonia
c.91-818G>A Multiple submitters TH-deficient dopa-responsive dystonia
c.91-860G>T Multiple submitters TH-deficient dopa-responsive dystonia
c.977+1G>A Multiple submitters TH-deficient dopa-responsive dystonia
p.Arg202Cys Multiple submitters TH-deficient dopa-responsive dystonia
p.Arg453Cys Multiple submitters TH-deficient dopa-responsive dystonia
p.Cys328Phe Multiple submitters TH-deficient dopa-responsive dystonia
p.His335fs Multiple submitters TH-deficient dopa-responsive dystonia
p.Ile363Thr Multiple submitters TH-deficient dopa-responsive dystonia
p.Leu356fs Multiple submitters TH-deficient dopa-responsive dystonia
p.Phe344Leu Multiple submitters TH-deficient dopa-responsive dystonia
p.Ser276Tyr Multiple submitters TH-deficient dopa-responsive dystonia
p.Ser319Ter Multiple submitters TH-deficient dopa-responsive dystonia
p.Ser434Pro Multiple submitters TH-deficient dopa-responsive dystonia
p.Thr231Ser Multiple submitters dystonic disorder
c.1047+1G>A Single submitter TH-deficient dopa-responsive dystonia
c.1047+1G>C Single submitter TH-deficient dopa-responsive dystonia
c.1047+1G>T Single submitter TH-deficient dopa-responsive dystonia
c.1048-2A>G Single submitter TH-deficient dopa-responsive dystonia
c.1105-1G>A Single submitter TH-deficient dopa-responsive dystonia
c.1105-1G>T Single submitter TH-deficient dopa-responsive dystonia
c.1105-2A>T Single submitter TH-deficient dopa-responsive dystonia
c.1201-1G>A Single submitter TH-deficient dopa-responsive dystonia
c.1201-2_1201-1delinsCC Single submitter TH-deficient dopa-responsive dystonia
c.1335-1G>A Single submitter TH-deficient dopa-responsive dystonia
c.487+1G>C Single submitter TH-deficient dopa-responsive dystonia
c.487+2T>C Single submitter TH-deficient dopa-responsive dystonia
c.488-1G>T Single submitter TH-deficient dopa-responsive dystonia
c.576+2T>G Single submitter TH-deficient dopa-responsive dystonia
c.577-2A>G Single submitter TH-deficient dopa-responsive dystonia
c.577-2A>T Single submitter TH-deficient dopa-responsive dystonia
c.645-2A>G Single submitter TH-deficient dopa-responsive dystonia
c.696-1_698delinsCGAG Single submitter TH-deficient dopa-responsive dystonia
c.696-1G>A Single submitter TH-deficient dopa-responsive dystonia
c.696-2A>G Single submitter TH-deficient dopa-responsive dystonia
c.841+1G>A Single submitter TH-deficient dopa-responsive dystonia
c.841+1G>T Single submitter TH-deficient dopa-responsive dystonia
c.90+14T>A Single submitter TH-deficient dopa-responsive dystonia
c.91-1G>C Single submitter TH-deficient dopa-responsive dystonia
c.977+1del Single submitter TH-deficient dopa-responsive dystonia
c.977+2T>C Single submitter TH-deficient dopa-responsive dystonia
c.978-1_1019del Single submitter TH-deficient dopa-responsive dystonia
c.978-1G>A Single submitter TH-deficient dopa-responsive dystonia
c.978-2A>G Single submitter TH-deficient dopa-responsive dystonia
p.Ala345Val Single submitter TH-deficient dopa-responsive dystonia
p.Ala474fs Single submitter TH-deficient dopa-responsive dystonia
p.Arg149fs Single submitter TH-deficient dopa-responsive dystonia
p.Arg277fs Single submitter Bietti crystalline corneoretinal dystrophy
p.Arg288Pro Single submitter TH-deficient dopa-responsive dystonia
p.Arg306Cys Single submitter TH-deficient dopa-responsive dystonia
p.Arg410Pro Single submitter TH-deficient dopa-responsive dystonia
p.Arg98_Ala99insGly Single submitter TH-deficient dopa-responsive dystonia
p.Arg98fs Single submitter TH-deficient dopa-responsive dystonia
p.Asp184fs Single submitter TH-deficient dopa-responsive dystonia
p.Asp274fs Single submitter TH-deficient dopa-responsive dystonia
p.Asp467Tyr Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Asp66fs Single submitter TH-deficient dopa-responsive dystonia
p.Cys379Ter Single submitter TH-deficient dopa-responsive dystonia
p.Gln119fs Single submitter TH-deficient dopa-responsive dystonia
p.Gln197Ter Single submitter TH-deficient dopa-responsive dystonia
p.Gln212Pro Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Gln212Ter Single submitter TH-deficient dopa-responsive dystonia
p.Gln271Ter Single submitter TH-deficient dopa-responsive dystonia
p.Gln346Ter Single submitter TH-deficient dopa-responsive dystonia
p.Gln381Ter Single submitter TH-deficient dopa-responsive dystonia
p.Gln423Ter Single submitter TH-deficient dopa-responsive dystonia
p.Gln425Ter Single submitter TH-deficient dopa-responsive dystonia
p.Glu250fs Single submitter TH-deficient dopa-responsive dystonia
p.Glu69fs Single submitter TH-deficient dopa-responsive dystonia
p.His178fs Single submitter TH-deficient dopa-responsive dystonia
p.His215Tyr Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ile110fs Single submitter TH-deficient dopa-responsive dystonia
p.Ile219Thr Single submitter
p.Ile363fs Single submitter TH-deficient dopa-responsive dystonia
p.Leu134fs Single submitter TH-deficient dopa-responsive dystonia
p.Leu272Arg Single submitter TH-deficient dopa-responsive dystonia
p.Leu279fs Single submitter TH-deficient dopa-responsive dystonia
p.Lys175Ter Single submitter TH-deficient dopa-responsive dystonia
p.Lys280fs Single submitter TH-deficient dopa-responsive dystonia
p.Phe278Ser Single submitter TH-deficient dopa-responsive dystonia
p.Pro324Leu Single submitter
p.Pro337Ser Single submitter
p.Ser157fs Single submitter TH-deficient dopa-responsive dystonia
p.Ser276Ala Single submitter TH-deficient dopa-responsive dystonia
p.Tyr243Ter Single submitter TH-deficient dopa-responsive dystonia
p.Tyr264Ter Single submitter TH-deficient dopa-responsive dystonia
p.Tyr396Ter Single submitter TH-deficient dopa-responsive dystonia
p.Val136Glu Single submitter TH-deficient dopa-responsive dystonia
p.Val235_Tyr236insTer Single submitter TH-deficient dopa-responsive dystonia
p.Val290fs Single submitter TH-deficient dopa-responsive dystonia
p.Val430fs Single submitter TH-deficient dopa-responsive dystonia
c.1104+1G>A No assertion criteria TH-deficient dopa-responsive dystonia
c.487+1G>A No assertion criteria TH-deficient dopa-responsive dystonia
c.644_644+15del No assertion criteria TH-deficient dopa-responsive dystonia
c.644+2T>A No assertion criteria TH-deficient dopa-responsive dystonia
c.91-9_107del No assertion criteria TH-deficient dopa-responsive dystonia
p.Gln428fs No assertion criteria TH-deficient dopa-responsive dystonia
p.Leu333fs No assertion criteria TH-deficient dopa-responsive dystonia
p.Lys240fs No assertion criteria TH-deficient dopa-responsive dystonia
p.Phe308fs No assertion criteria TH-deficient dopa-responsive dystonia
p.Thr283fs No assertion criteria TH-deficient dopa-responsive dystonia
p.Tyr422Ter No assertion criteria TH-deficient dopa-responsive dystonia
p.Val100fs No assertion criteria TH-deficient dopa-responsive dystonia

Conflicting classifications of pathogenicity 52

c.1104+4G>T Single submitter TH-deficient dopa-responsive dystonia
c.1105-5C>G Single submitter TH-deficient dopa-responsive dystonia
c.1200+9C>T Single submitter TH-deficient dopa-responsive dystonia
c.576+6_576+14del Single submitter TH-deficient dopa-responsive dystonia
c.841+12C>T Single submitter TH-deficient dopa-responsive dystonia
c.91-828dup Single submitter TH-deficient dopa-responsive dystonia
c.91-868C>T Single submitter TH-deficient dopa-responsive dystonia ⚠
c.91-891G>A Single submitter TH-deficient dopa-responsive dystonia
c.91-896G>A Single submitter Inborn genetic diseases ⚠
c.977+8C>T Single submitter TH-deficient dopa-responsive dystonia
p.Ala23Thr Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala354Val Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala474= Single submitter TH-deficient dopa-responsive dystonia
p.Ala490= Single submitter TH-deficient dopa-responsive dystonia
p.Ala57= Single submitter TH-deficient dopa-responsive dystonia
p.Ala72= Single submitter TH-deficient dopa-responsive dystonia
p.Arg120= Single submitter TH-deficient dopa-responsive dystonia
p.Arg122Gln Single submitter Inborn genetic diseases ⚠
p.Arg410= Single submitter TH-deficient dopa-responsive dystonia
p.Arg410Trp Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg453His Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Glu114= Single submitter
p.Glu227Lys Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Glu27Asp Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Gly216= Single submitter TH-deficient dopa-responsive dystonia
p.Gly263Arg Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Gly481Asp Single submitter TH-deficient dopa-responsive dystonia ⚠
p.His215= Single submitter Inborn genetic diseases
p.Ile209Met Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ile466= Single submitter TH-deficient dopa-responsive dystonia
p.Leu242Phe Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Leu464= Single submitter TH-deficient dopa-responsive dystonia
p.Leu84= Single submitter TH-deficient dopa-responsive dystonia
p.Phe131= Single submitter TH-deficient dopa-responsive dystonia
p.Phe194Leu Single submitter Inborn genetic diseases ⚠
p.Phe299= Single submitter TH-deficient dopa-responsive dystonia
p.Pro121= Single submitter TH-deficient dopa-responsive dystonia
p.Pro121Leu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Pro2Leu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Pro337Leu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Pro4= Single submitter TH-deficient dopa-responsive dystonia
p.Pro88Leu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ser195= Single submitter TH-deficient dopa-responsive dystonia
p.Ser19Cys Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ser429= Single submitter TH-deficient dopa-responsive dystonia
p.Ser456= Single submitter TH-deficient dopa-responsive dystonia
p.Thr225= Single submitter TH-deficient dopa-responsive dystonia
p.Thr373Met Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Thr463Met Single submitter TH-related disorders ⚠
p.Val419Met Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Val468Met Single submitter Inborn genetic diseases ⚠
p.Thr283Met No assertion criteria TH-deficient dopa-responsive dystonia ⚠

Benign 38

c.1048-110A>C Multiple submitters TH-deficient dopa-responsive dystonia
c.1048-151G>T Multiple submitters
c.1048-154G>T Multiple submitters
c.1048-167A>C Multiple submitters
c.1048-189G>A Multiple submitters
c.1048-194G>C Multiple submitters
c.1105-78A>G Multiple submitters TH-deficient dopa-responsive dystonia
c.1200+53G>A Multiple submitters
c.1200+83A>T Multiple submitters
c.1334+127T>C Multiple submitters TH-deficient dopa-responsive dystonia
c.312+289G>C Multiple submitters TH-deficient dopa-responsive dystonia
c.313-88G>A Multiple submitters TH-deficient dopa-responsive dystonia
c.313-9C>T Multiple submitters TH-deficient dopa-responsive dystonia
c.487+3G>A Multiple submitters TH-deficient dopa-responsive dystonia
c.577-22C>T Multiple submitters TH-deficient dopa-responsive dystonia
c.695+99G>A Multiple submitters TH-deficient dopa-responsive dystonia
c.696-126C>G Multiple submitters TH-deficient dopa-responsive dystonia
c.696-138G>A Multiple submitters TH-deficient dopa-responsive dystonia
c.696-174T>C Multiple submitters
c.90+129G>A Multiple submitters
c.91-54A>G Multiple submitters TH-deficient dopa-responsive dystonia
c.91-608G>A Multiple submitters
c.977+8C>G Multiple submitters TH-deficient dopa-responsive dystonia
p.Ala345= Multiple submitters TH-deficient dopa-responsive dystonia
p.Ala70= Multiple submitters TH-deficient dopa-responsive dystonia
p.Asp22= Multiple submitters TH-deficient dopa-responsive dystonia
p.Lys240= Multiple submitters TH-deficient dopa-responsive dystonia
p.Ser62= Multiple submitters TH-deficient dopa-responsive dystonia
c.1047+16G>A Single submitter TH-deficient dopa-responsive dystonia
c.1105-14C>T Single submitter TH-deficient dopa-responsive dystonia
c.488-97dup Single submitter
c.576+13C>T Single submitter TH-deficient dopa-responsive dystonia
c.576+16dup Single submitter TH-deficient dopa-responsive dystonia
c.644+8dup Single submitter TH-deficient dopa-responsive dystonia
c.91-282G>C Single submitter
c.91-53G>T Single submitter
p.Asp413Asn Single submitter TH-deficient dopa-responsive dystonia
p.Pro88= Single submitter TH-deficient dopa-responsive dystonia

Benign/Likely benign 11

c.313-38_313-35del Multiple submitters
c.644+15C>A Multiple submitters TH-deficient dopa-responsive dystonia
c.644+15C>T Multiple submitters TH-deficient dopa-responsive dystonia
c.*277G>A Multiple submitters Neonatal insulin-dependent diabetes mellitus
p.Ala6Thr Multiple submitters TH-deficient dopa-responsive dystonia
p.Arg89= Multiple submitters TH-deficient dopa-responsive dystonia
p.Asp467= Multiple submitters TH-deficient dopa-responsive dystonia
p.Glu228= Multiple submitters TH-deficient dopa-responsive dystonia
p.Gly193= Multiple submitters TH-deficient dopa-responsive dystonia
p.Thr426= Multiple submitters Neonatal insulin-dependent diabetes mellitus
p.Val81Met Multiple submitters schizophrenia

Likely benign 502

Showing the top 300 by review status; the full set is in the sitemap.

c.1048-109G>A Multiple submitters
c.1105-12G>C Multiple submitters TH-deficient dopa-responsive dystonia
c.1105-48G>A Multiple submitters
c.1200+11C>T Multiple submitters TH-deficient dopa-responsive dystonia
c.1201-75G>A Multiple submitters
c.576+8G>T Multiple submitters TH-deficient dopa-responsive dystonia
c.644+19C>T Multiple submitters TH-deficient dopa-responsive dystonia
c.644+80A>G Multiple submitters
c.645-74A>T Multiple submitters TH-deficient dopa-responsive dystonia
c.695+39G>A Multiple submitters
c.90+25C>T Multiple submitters TH-deficient dopa-responsive dystonia
c.91-732C>T Multiple submitters
c.91-828C>T Multiple submitters TH-deficient dopa-responsive dystonia
c.91-867G>A Multiple submitters TH-deficient dopa-responsive dystonia
c.978-6G>A Multiple submitters TH-deficient dopa-responsive dystonia
p.Asp274= Multiple submitters TH-deficient dopa-responsive dystonia
p.Cys328= Multiple submitters TH-deficient dopa-responsive dystonia
p.Glu153= Multiple submitters TH-deficient dopa-responsive dystonia
p.Glu50= Multiple submitters TH-deficient dopa-responsive dystonia
p.Glu75= Multiple submitters TH-deficient dopa-responsive dystonia
p.Gly124= Multiple submitters TH-deficient dopa-responsive dystonia
p.Gly36= Multiple submitters TH-deficient dopa-responsive dystonia
p.Ile42= Multiple submitters TH-deficient dopa-responsive dystonia
p.Leu96= Multiple submitters TH-deficient dopa-responsive dystonia
p.Phe344= Multiple submitters TH-deficient dopa-responsive dystonia
p.Phe432= Multiple submitters TH-deficient dopa-responsive dystonia
p.Phe459= Multiple submitters TH-deficient dopa-responsive dystonia
p.Thr8= Multiple submitters TH-deficient dopa-responsive dystonia
p.Tyr243= Multiple submitters TH-deficient dopa-responsive dystonia
p.Val198= Multiple submitters TH-deficient dopa-responsive dystonia
p.Thr426= Single submitter TH-deficient dopa-responsive dystonia
c.1047+10G>A Single submitter TH-deficient dopa-responsive dystonia
c.1047+13C>A Single submitter TH-deficient dopa-responsive dystonia
c.1047+15C>T Single submitter TH-deficient dopa-responsive dystonia
c.1047+17G>A Single submitter TH-deficient dopa-responsive dystonia
c.1047+7C>T Single submitter TH-deficient dopa-responsive dystonia
c.1047+8G>A Single submitter TH-deficient dopa-responsive dystonia
c.1048-13C>A Single submitter TH-deficient dopa-responsive dystonia
c.1048-13C>T Single submitter TH-deficient dopa-responsive dystonia
c.1048-16C>A Single submitter TH-deficient dopa-responsive dystonia
c.1048-20_1048-14dup Single submitter TH-deficient dopa-responsive dystonia
c.1048-20T>C Single submitter TH-deficient dopa-responsive dystonia
c.1048-4A>C Single submitter TH-deficient dopa-responsive dystonia
c.1048-4A>G Single submitter TH-deficient dopa-responsive dystonia
c.1048-5C>T Single submitter TH-deficient dopa-responsive dystonia
c.1048-7T>C Single submitter TH-deficient dopa-responsive dystonia
c.1048-8C>A Single submitter TH-deficient dopa-responsive dystonia
c.1104+10C>A Single submitter TH-deficient dopa-responsive dystonia
c.1104+11C>A Single submitter TH-deficient dopa-responsive dystonia
c.1104+11C>G Single submitter TH-deficient dopa-responsive dystonia
c.1104+15C>T Single submitter TH-deficient dopa-responsive dystonia
c.1104+19G>T Single submitter TH-deficient dopa-responsive dystonia
c.1104+9A>T Single submitter TH-deficient dopa-responsive dystonia
c.1105-11C>G Single submitter TH-deficient dopa-responsive dystonia
c.1105-13G>A Single submitter TH-deficient dopa-responsive dystonia
c.1105-14C>G Single submitter TH-deficient dopa-responsive dystonia
c.1105-17G>T Single submitter TH-deficient dopa-responsive dystonia
c.1105-19C>T Single submitter TH-deficient dopa-responsive dystonia
c.1105-4G>A Single submitter TH-deficient dopa-responsive dystonia
c.1105-5C>T Single submitter TH-deficient dopa-responsive dystonia
c.1105-6C>T Single submitter TH-deficient dopa-responsive dystonia
c.1105-7C>T Single submitter TH-deficient dopa-responsive dystonia
c.1105-8C>T Single submitter TH-deficient dopa-responsive dystonia
c.1200+7G>A Single submitter TH-deficient dopa-responsive dystonia
c.1200+7G>T Single submitter TH-deficient dopa-responsive dystonia
c.1200+8T>A Single submitter TH-deficient dopa-responsive dystonia
c.1200+8T>C Single submitter TH-deficient dopa-responsive dystonia
c.1200+9C>G Single submitter TH-deficient dopa-responsive dystonia
c.1201-10C>A Single submitter TH-deficient dopa-responsive dystonia
c.1201-10C>G Single submitter TH-deficient dopa-responsive dystonia
c.1201-10C>T Single submitter TH-deficient dopa-responsive dystonia
c.1201-15T>C Single submitter TH-deficient dopa-responsive dystonia
c.1201-16A>G Single submitter TH-deficient dopa-responsive dystonia
c.1201-4C>A Single submitter TH-deficient dopa-responsive dystonia
c.1201-4C>G Single submitter TH-deficient dopa-responsive dystonia
c.1201-8_1201-6del Single submitter TH-deficient dopa-responsive dystonia
c.1201-8C>T Single submitter TH-deficient dopa-responsive dystonia
c.1334+10G>A Single submitter TH-deficient dopa-responsive dystonia
c.1334+10G>C Single submitter TH-deficient dopa-responsive dystonia
c.1334+11C>A Single submitter TH-deficient dopa-responsive dystonia
c.1334+16A>C Single submitter TH-deficient dopa-responsive dystonia
c.1334+20C>A Single submitter TH-deficient dopa-responsive dystonia
c.1334+303C>T Single submitter
c.1334+38C>T Single submitter
c.1334+7T>C Single submitter TH-deficient dopa-responsive dystonia
c.1334+9G>A Single submitter TH-deficient dopa-responsive dystonia
c.1334+9G>C Single submitter TH-deficient dopa-responsive dystonia
c.1335-11C>A Single submitter TH-deficient dopa-responsive dystonia
c.1335-11C>G Single submitter TH-deficient dopa-responsive dystonia
c.1335-13C>T Single submitter TH-deficient dopa-responsive dystonia
c.1335-14G>A Single submitter TH-deficient dopa-responsive dystonia
c.1335-15C>T Single submitter TH-deficient dopa-responsive dystonia
c.1335-17G>A Single submitter TH-deficient dopa-responsive dystonia
c.1335-17G>T Single submitter TH-deficient dopa-responsive dystonia
c.1335-18T>A Single submitter TH-deficient dopa-responsive dystonia
c.1335-19C>G Single submitter TH-deficient dopa-responsive dystonia
c.1335-6C>T Single submitter TH-deficient dopa-responsive dystonia
c.1335-95T>C Single submitter
c.1335-9C>G Single submitter TH-deficient dopa-responsive dystonia
c.312+10T>C Single submitter TH-deficient dopa-responsive dystonia
c.312+11G>T Single submitter TH-deficient dopa-responsive dystonia
c.312+12G>A Single submitter TH-deficient dopa-responsive dystonia
c.312+13C>A Single submitter TH-deficient dopa-responsive dystonia
c.312+17C>G Single submitter TH-deficient dopa-responsive dystonia
c.312+17C>T Single submitter TH-deficient dopa-responsive dystonia
c.312+18G>A Single submitter TH-deficient dopa-responsive dystonia
c.312+19T>G Single submitter TH-deficient dopa-responsive dystonia
c.313-10G>A Single submitter TH-deficient dopa-responsive dystonia
c.313-12T>C Single submitter TH-deficient dopa-responsive dystonia
c.313-13T>C Single submitter TH-deficient dopa-responsive dystonia
c.313-15C>T Single submitter TH-deficient dopa-responsive dystonia
c.313-18C>G Single submitter TH-deficient dopa-responsive dystonia
c.313-8T>C Single submitter TH-deficient dopa-responsive dystonia
c.487+14C>G Single submitter TH-deficient dopa-responsive dystonia
c.487+18C>G Single submitter TH-deficient dopa-responsive dystonia
c.487+19C>A Single submitter TH-deficient dopa-responsive dystonia
c.487+7C>T Single submitter TH-deficient dopa-responsive dystonia
c.487+8G>A Single submitter TH-deficient dopa-responsive dystonia
c.487+8G>T Single submitter TH-deficient dopa-responsive dystonia
c.487+9G>T Single submitter TH-deficient dopa-responsive dystonia
c.488-11C>T Single submitter TH-deficient dopa-responsive dystonia
c.488-14C>T Single submitter TH-deficient dopa-responsive dystonia
c.488-18C>T Single submitter TH-deficient dopa-responsive dystonia
c.488-19T>C Single submitter TH-deficient dopa-responsive dystonia
c.488-5T>C Single submitter TH-deficient dopa-responsive dystonia
c.576+10G>A Single submitter TH-deficient dopa-responsive dystonia
c.576+11C>G Single submitter TH-deficient dopa-responsive dystonia
c.576+11C>T Single submitter TH-deficient dopa-responsive dystonia
c.576+12G>A Single submitter TH-deficient dopa-responsive dystonia
c.576+18C>T Single submitter TH-deficient dopa-responsive dystonia
c.576+7G>C Single submitter TH-deficient dopa-responsive dystonia
c.576+8G>A Single submitter TH-deficient dopa-responsive dystonia
c.577-10C>G Single submitter TH-deficient dopa-responsive dystonia
c.577-10C>T Single submitter TH-deficient dopa-responsive dystonia
c.577-12C>T Single submitter TH-deficient dopa-responsive dystonia
c.577-13C>T Single submitter TH-deficient dopa-responsive dystonia
c.577-15C>T Single submitter TH-deficient dopa-responsive dystonia
c.577-19G>A Single submitter TH-deficient dopa-responsive dystonia
c.577-6C>T Single submitter TH-deficient dopa-responsive dystonia
c.577-7C>T Single submitter TH-deficient dopa-responsive dystonia
c.577-8G>A Single submitter TH-deficient dopa-responsive dystonia
c.644+10C>T Single submitter TH-deficient dopa-responsive dystonia
c.644+11C>T Single submitter TH-deficient dopa-responsive dystonia
c.644+15C>G Single submitter TH-deficient dopa-responsive dystonia
c.644+16G>A Single submitter TH-deficient dopa-responsive dystonia
c.644+20G>A Single submitter TH-deficient dopa-responsive dystonia
c.644+20G>C Single submitter TH-deficient dopa-responsive dystonia
c.644+8G>A Single submitter TH-deficient dopa-responsive dystonia
c.644+8G>C Single submitter TH-deficient dopa-responsive dystonia
c.644+8G>T Single submitter TH-deficient dopa-responsive dystonia
c.644+9C>T Single submitter TH-deficient dopa-responsive dystonia
c.645-11C>T Single submitter TH-deficient dopa-responsive dystonia
c.645-15T>C Single submitter TH-deficient dopa-responsive dystonia
c.645-15T>G Single submitter TH-deficient dopa-responsive dystonia
c.645-18C>T Single submitter TH-deficient dopa-responsive dystonia
c.645-51T>C Single submitter
c.645-8dup Single submitter TH-deficient dopa-responsive dystonia
c.645-9C>T Single submitter TH-deficient dopa-responsive dystonia
c.695+11C>A Single submitter TH-deficient dopa-responsive dystonia
c.695+11C>G Single submitter TH-deficient dopa-responsive dystonia
c.695+11C>T Single submitter TH-deficient dopa-responsive dystonia
c.695+12G>A Single submitter TH-deficient dopa-responsive dystonia
c.695+12G>C Single submitter TH-deficient dopa-responsive dystonia
c.695+13T>C Single submitter TH-deficient dopa-responsive dystonia
c.695+14G>A Single submitter TH-deficient dopa-responsive dystonia
c.695+15C>A Single submitter TH-deficient dopa-responsive dystonia
c.695+20A>G Single submitter TH-deficient dopa-responsive dystonia
c.695+8C>T Single submitter TH-deficient dopa-responsive dystonia
c.696-10C>G Single submitter TH-deficient dopa-responsive dystonia
c.696-14C>T Single submitter TH-deficient dopa-responsive dystonia
c.696-15C>A Single submitter TH-deficient dopa-responsive dystonia
c.696-19T>C Single submitter TH-deficient dopa-responsive dystonia
c.696-3C>T Single submitter
c.696-4G>A Single submitter TH-deficient dopa-responsive dystonia
c.696-4G>T Single submitter
c.696-5C>G Single submitter TH-deficient dopa-responsive dystonia
c.696-5C>T Single submitter TH-deficient dopa-responsive dystonia
c.696-7C>T Single submitter TH-deficient dopa-responsive dystonia
c.696-8_696-7delinsCT Single submitter TH-deficient dopa-responsive dystonia
c.841+12C>G Single submitter TH-deficient dopa-responsive dystonia
c.841+13G>C Single submitter TH-deficient dopa-responsive dystonia
c.841+14G>C Single submitter TH-deficient dopa-responsive dystonia
c.841+15G>C Single submitter TH-deficient dopa-responsive dystonia
c.841+18G>A Single submitter TH-deficient dopa-responsive dystonia
c.841+8C>G Single submitter TH-deficient dopa-responsive dystonia
c.841+9A>G Single submitter TH-deficient dopa-responsive dystonia
c.842-10C>A Single submitter TH-deficient dopa-responsive dystonia
c.842-12G>A Single submitter TH-deficient dopa-responsive dystonia
c.842-14G>A Single submitter TH-deficient dopa-responsive dystonia
c.842-15C>T Single submitter TH-deficient dopa-responsive dystonia
c.842-16G>C Single submitter TH-deficient dopa-responsive dystonia
c.842-17C>T Single submitter TH-deficient dopa-responsive dystonia
c.842-6T>C Single submitter TH-deficient dopa-responsive dystonia
c.842-7C>G Single submitter TH-deficient dopa-responsive dystonia
c.842-7C>T Single submitter TH-deficient dopa-responsive dystonia
c.842-9C>G Single submitter TH-deficient dopa-responsive dystonia
c.90+20C>A Single submitter TH-deficient dopa-responsive dystonia
c.90+21C>T Single submitter TH-deficient dopa-responsive dystonia
c.90+22C>A Single submitter TH-deficient dopa-responsive dystonia
c.90+22C>G Single submitter TH-deficient dopa-responsive dystonia
c.90+22C>T Single submitter TH-deficient dopa-responsive dystonia
c.90+23G>A Single submitter TH-deficient dopa-responsive dystonia
c.90+25C>G Single submitter TH-deficient dopa-responsive dystonia
c.90+26G>A Single submitter TH-deficient dopa-responsive dystonia
c.90+27G>A Single submitter TH-deficient dopa-responsive dystonia
c.90+29C>T Single submitter TH-deficient dopa-responsive dystonia
c.90+30G>A Single submitter TH-deficient dopa-responsive dystonia
c.90+30G>T Single submitter TH-deficient dopa-responsive dystonia
c.90+907A>G Single submitter TH-deficient dopa-responsive dystonia
c.90+913C>G Single submitter TH-deficient dopa-responsive dystonia
c.90+9G>A Single submitter TH-deficient dopa-responsive dystonia
c.90+9G>T Single submitter TH-deficient dopa-responsive dystonia
c.91-10G>T Single submitter TH-deficient dopa-responsive dystonia
c.91-13C>T Single submitter TH-deficient dopa-responsive dystonia
c.91-14C>T Single submitter TH-deficient dopa-responsive dystonia
c.91-15C>T Single submitter TH-deficient dopa-responsive dystonia
c.91-16C>T Single submitter TH-deficient dopa-responsive dystonia
c.91-17G>A Single submitter TH-deficient dopa-responsive dystonia
c.91-19G>A Single submitter TH-deficient dopa-responsive dystonia
c.91-4A>C Single submitter TH-deficient dopa-responsive dystonia
c.91-528G>C Single submitter
c.91-5C>T Single submitter TH-deficient dopa-responsive dystonia
c.91-800T>C Single submitter TH-deficient dopa-responsive dystonia
c.91-801C>T Single submitter TH-deficient dopa-responsive dystonia
c.91-806_91-805del Single submitter TH-deficient dopa-responsive dystonia
c.91-808G>T Single submitter TH-deficient dopa-responsive dystonia
c.91-810G>A Single submitter TH-deficient dopa-responsive dystonia
c.91-810G>C Single submitter TH-deficient dopa-responsive dystonia
c.91-821A>C Single submitter TH-deficient dopa-responsive dystonia
c.91-822A>G Single submitter TH-deficient dopa-responsive dystonia
c.91-831C>T Single submitter TH-deficient dopa-responsive dystonia
c.91-834C>T Single submitter TH-deficient dopa-responsive dystonia
c.91-840A>G Single submitter TH-deficient dopa-responsive dystonia
c.91-849C>T Single submitter TH-deficient dopa-responsive dystonia
c.91-870T>C Single submitter TH-deficient dopa-responsive dystonia
c.91-873C>A Single submitter TH-deficient dopa-responsive dystonia
c.91-882C>T Single submitter TH-deficient dopa-responsive dystonia
c.91-885C>T Single submitter TH-deficient dopa-responsive dystonia
c.91-888G>A Single submitter TH-deficient dopa-responsive dystonia
c.91-897C>A Single submitter TH-deficient dopa-responsive dystonia
c.91-897C>G Single submitter TH-deficient dopa-responsive dystonia
c.91-897C>T Single submitter TH-deficient dopa-responsive dystonia
c.91-8C>T Single submitter TH-deficient dopa-responsive dystonia
c.91-903C>A Single submitter TH-deficient dopa-responsive dystonia
c.91-904C>T Single submitter TH-deficient dopa-responsive dystonia
c.91-905C>A Single submitter TH-deficient dopa-responsive dystonia
c.91-907C>T Single submitter TH-deficient dopa-responsive dystonia
c.977+10C>T Single submitter TH-deficient dopa-responsive dystonia
c.977+11G>C Single submitter TH-deficient dopa-responsive dystonia
c.977+11G>T Single submitter TH-deficient dopa-responsive dystonia
c.977+13C>A Single submitter TH-deficient dopa-responsive dystonia
c.977+13C>G Single submitter TH-deficient dopa-responsive dystonia
c.977+16G>A Single submitter TH-deficient dopa-responsive dystonia
c.977+18C>A Single submitter TH-deficient dopa-responsive dystonia
c.977+20G>A Single submitter TH-deficient dopa-responsive dystonia
c.977+20G>C Single submitter TH-deficient dopa-responsive dystonia
c.977+9G>C Single submitter TH-deficient dopa-responsive dystonia
c.978-10C>T Single submitter TH-deficient dopa-responsive dystonia
c.978-11C>T Single submitter TH-deficient dopa-responsive dystonia
c.978-13C>G Single submitter TH-deficient dopa-responsive dystonia
c.978-13C>T Single submitter TH-deficient dopa-responsive dystonia
c.978-14C>T Single submitter TH-deficient dopa-responsive dystonia
c.978-15C>G Single submitter TH-deficient dopa-responsive dystonia
c.978-18T>C Single submitter TH-deficient dopa-responsive dystonia
c.978-20C>T Single submitter TH-deficient dopa-responsive dystonia
c.978-4G>C Single submitter TH-deficient dopa-responsive dystonia
c.978-4G>T Single submitter TH-deficient dopa-responsive dystonia
c.978-5C>T Single submitter TH-deficient dopa-responsive dystonia
c.978-6G>T Single submitter TH-deficient dopa-responsive dystonia
c.978-7C>T Single submitter TH-deficient dopa-responsive dystonia
c.978-8A>C Single submitter TH-deficient dopa-responsive dystonia
c.-7C>T Single submitter TH-deficient dopa-responsive dystonia
p.Ala123= Single submitter TH-deficient dopa-responsive dystonia
p.Ala142= Single submitter TH-deficient dopa-responsive dystonia
p.Ala159= Single submitter TH-deficient dopa-responsive dystonia
p.Ala17= Single submitter TH-deficient dopa-responsive dystonia
p.Ala210= Single submitter TH-deficient dopa-responsive dystonia
p.Ala226= Single submitter TH-deficient dopa-responsive dystonia
p.Ala23= Single submitter TH-deficient dopa-responsive dystonia
p.Ala244= Single submitter TH-deficient dopa-responsive dystonia
p.Ala254= Single submitter TH-deficient dopa-responsive dystonia
p.Ala256= Single submitter TH-deficient dopa-responsive dystonia
p.Ala26= Single submitter TH-deficient dopa-responsive dystonia
p.Ala291= Single submitter TH-deficient dopa-responsive dystonia
p.Ala296= Single submitter TH-deficient dopa-responsive dystonia
p.Ala304= Single submitter TH-deficient dopa-responsive dystonia
p.Ala317= Single submitter TH-deficient dopa-responsive dystonia
p.Ala354= Single submitter TH-deficient dopa-responsive dystonia
p.Ala390= Single submitter TH-deficient dopa-responsive dystonia
p.Ala411= Single submitter TH-deficient dopa-responsive dystonia
p.Ala417= Single submitter TH-deficient dopa-responsive dystonia
p.Ala418= Single submitter TH-deficient dopa-responsive dystonia
p.Ala440= Single submitter TH-deficient dopa-responsive dystonia
p.Ala448= Single submitter TH-deficient dopa-responsive dystonia
p.Ala45= Single submitter TH-deficient dopa-responsive dystonia
p.Ala492= Single submitter TH-deficient dopa-responsive dystonia
p.Ala51= Single submitter TH-deficient dopa-responsive dystonia
p.Ala52= Single submitter TH-deficient dopa-responsive dystonia
p.Ala55= Single submitter TH-deficient dopa-responsive dystonia
p.Ala56= Single submitter TH-deficient dopa-responsive dystonia

Uncertain significance 383

Showing the top 300 by review status; the full set is in the sitemap.

c.1334+3G>C Multiple submitters TH-deficient dopa-responsive dystonia
c.488-17C>G Multiple submitters TH-deficient dopa-responsive dystonia
c.841+5G>A Multiple submitters TH-deficient dopa-responsive dystonia
c.90+7G>T Multiple submitters TH-deficient dopa-responsive dystonia ⚠
c.91-853C>T Multiple submitters Inborn genetic diseases ⚠
c.91-892C>T Multiple submitters Inborn genetic diseases ⚠
c.-18G>A Multiple submitters TH-deficient dopa-responsive dystonia
p.Ala11Gly Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Ala159Val Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Ala210Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala226Thr Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Ala244Pro Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Ala247Thr Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Ala317Glu Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Ala317Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala440Ser Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Ala492Val Multiple submitters Inborn genetic diseases ⚠
p.Ala52Val Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Ala56Val Multiple submitters Inborn genetic diseases ⚠
p.Ala95Glu Multiple submitters Inborn genetic diseases ⚠
p.Ala95Gly Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Ala95Val Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Arg133Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg133His Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Arg137Cys Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Arg138Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg156Cys Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Arg15His Multiple submitters TH-deficient dopa-responsive dystonia
p.Arg15Leu Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Arg200His Multiple submitters Inborn genetic diseases ⚠
p.Arg221Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg265Gln Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Arg265Gly Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Arg33Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg33Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg342Cys Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Arg342Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg37Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg37His Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Arg410Gln Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Arg410Leu Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Arg450Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg476Gln Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Arg98Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg98Pro Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Asp184Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp188His Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Asp217Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp267His Multiple submitters Inborn genetic diseases ⚠
p.Asp460Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp487Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp5Asn Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Gln39Glu Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Glu114Lys Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Glu129Ala Multiple submitters Inborn genetic diseases ⚠
p.Glu153Gly Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Glu253Val Multiple submitters Inborn genetic diseases ⚠
p.Glu384Gly Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Glu43Lys Multiple submitters Inborn genetic diseases
p.Glu74Gln Multiple submitters Inborn genetic diseases ⚠
p.Gly357Arg Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Gly377Arg Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Gly497Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly65Arg Multiple submitters Inborn genetic diseases ⚠
p.His178Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ile206Thr Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Ile229Thr Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Ile35Thr Multiple submitters Inborn genetic diseases ⚠
p.Leu173Met Multiple submitters Inborn genetic diseases ⚠
p.Leu252Pro Multiple submitters Inborn genetic diseases ⚠
p.Lys24Arg Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Phe131Val Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Pro218Leu Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Pro324Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro454His Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Pro67Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser429Pro Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Ser434Cys Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Ser62Leu Multiple submitters Inborn genetic diseases ⚠
p.Thr115Ile Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Thr181Ser Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Thr225Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr238Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr245Pro Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Thr426Met Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Thr7Pro Multiple submitters Inborn genetic diseases ⚠
p.Thr8Met Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Val100Met Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Val102Leu Multiple submitters Inborn genetic diseases ⚠
p.Val136Met Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Val148Ala Multiple submitters TH-deficient dopa-responsive dystonia
p.Val151Ala Multiple submitters Inborn genetic diseases ⚠
p.Val155Met Multiple submitters Inborn genetic diseases ⚠
p.Val18Met Multiple submitters Inborn genetic diseases ⚠
p.Val433Met Multiple submitters TH-deficient dopa-responsive dystonia ⚠
p.Val475Met Multiple submitters TH-deficient dopa-responsive dystonia ⚠
c.1047+3A>G Single submitter TH-deficient dopa-responsive dystonia
c.1047+5G>A Single submitter
c.1104+3G>A Single submitter TH-deficient dopa-responsive dystonia
c.1104+4G>A Single submitter TH-deficient dopa-responsive dystonia
c.1104+6T>A Single submitter
c.1104+6T>C Single submitter TH-deficient dopa-responsive dystonia
c.1105-22A>G Single submitter TH-deficient dopa-responsive dystonia
c.1200+5G>A Single submitter TH-deficient dopa-responsive dystonia
c.286_312+18dup Single submitter TH-deficient dopa-responsive dystonia
c.312+6C>T Single submitter TH-deficient dopa-responsive dystonia
c.576+3G>A Single submitter TH-deficient dopa-responsive dystonia
c.576+6T>C Single submitter TH-deficient dopa-responsive dystonia
c.577-22_577-5del Single submitter TH-deficient dopa-responsive dystonia
c.577-3C>T Single submitter TH-deficient dopa-responsive dystonia
c.696-4_696-3delinsTT Single submitter
c.841+3G>A Single submitter TH-deficient dopa-responsive dystonia
c.842-3C>A Single submitter TH-deficient dopa-responsive dystonia
c.91-20_91-10del Single submitter TH-deficient dopa-responsive dystonia
c.91-814G>A Single submitter TH-deficient dopa-responsive dystonia
c.91-819G>A Single submitter TH-deficient dopa-responsive dystonia
c.91-819G>T Single submitter TH-deficient dopa-responsive dystonia ⚠
c.91-847C>T Single submitter TH-deficient dopa-responsive dystonia ⚠
c.91-851G>A Single submitter TH-deficient dopa-responsive dystonia ⚠
c.91-854G>A Single submitter Inborn genetic diseases ⚠
c.91-856C>A Single submitter TH-deficient dopa-responsive dystonia ⚠
c.91-866T>C Single submitter Inborn genetic diseases ⚠
c.91-875G>A Single submitter TH-deficient dopa-responsive dystonia ⚠
c.91-886C>T Single submitter TH-deficient dopa-responsive dystonia ⚠
c.91-893C>T Single submitter TH-deficient dopa-responsive dystonia ⚠
c.978-3C>A Single submitter TH-deficient dopa-responsive dystonia
c.*102C>A Single submitter TH-deficient dopa-responsive dystonia
c.*109G>A Single submitter TH-deficient dopa-responsive dystonia
c.*135C>A Single submitter TH-deficient dopa-responsive dystonia
c.*52C>T Single submitter TH-deficient dopa-responsive dystonia
c.*54C>T Single submitter TH-deficient dopa-responsive dystonia
c.*9C>T Single submitter TH-deficient dopa-responsive dystonia
p.Ala118Ser Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala11Asp Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala11Thr Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala142Ser Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala143Asp Single submitter Inborn genetic diseases ⚠
p.Ala143Thr Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala159Thr Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala17Asp Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala17Pro Single submitter Inborn genetic diseases ⚠
p.Ala210Gly Single submitter ⚠
p.Ala210Val Single submitter ⚠
p.Ala244Ser Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala244Thr Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala247Asp Single submitter Inborn genetic diseases ⚠
p.Ala247Pro Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala256Gly Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala256Val Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala28Pro Single submitter TH-deficient dopa-responsive dystonia
p.Ala291Val Single submitter Inborn genetic diseases ⚠
p.Ala301Ser Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala301Thr Single submitter ⚠
p.Ala358Thr Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala417Val Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala440Thr Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala465Thr Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala465Val Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala51Thr Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala51Val Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ala58Asp Single submitter Inborn genetic diseases ⚠
p.Ala58Thr Single submitter Inborn genetic diseases ⚠
p.Ala58Val Single submitter Inborn genetic diseases ⚠
p.Ala6Ser Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg116Gln Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg116Pro Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg120Lys Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg133Leu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg138Gly Single submitter Inborn genetic diseases ⚠
p.Arg149Cys Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg149His Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg149Leu Single submitter ⚠
p.Arg156His Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg15Cys Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg168Lys Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg16Gly Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg200Cys Single submitter ⚠
p.Arg221Cys Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg221Leu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg260Gly Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg260Leu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg260Ser Single submitter Inborn genetic diseases ⚠
p.Arg277Ser Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg288Trp Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg297Gln Single submitter ⚠
p.Arg450His Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg450Ser Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg476Trp Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg477Cys Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg477His Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg477Pro Single submitter ⚠
p.Arg49Gln Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Arg49Trp Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Asp140Asn Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Asp140His Single submitter Inborn genetic diseases ⚠
p.Asp184His Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Asp274Gly Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Asp413His Single submitter Inborn genetic diseases ⚠
p.Asp424Ala Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Asp439Gly Single submitter ⚠
p.Asp442His Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Asp460Glu Single submitter TH-deficient dopa-responsive dystonia
p.Asp460Tyr Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Asp467Glu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Asp484His Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Asp487His Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Asp66Ala Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Cys248Ser Single submitter Inborn genetic diseases ⚠
p.Gln212Arg Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Gln25Pro Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Gln346His Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Gln349= Single submitter TH-deficient dopa-responsive dystonia
p.Gln349His Single submitter ⚠
p.Gln381His Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Glu104Gln Single submitter Inborn genetic diseases ⚠
p.Glu129Lys Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Glu135Lys Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Glu153Lys Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Glu20Lys Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Glu227Ala Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Glu227Gly Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Glu234Asp Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Glu234Lys Single submitter Inborn genetic diseases ⚠
p.Glu250Gln Single submitter ⚠
p.Glu250Val Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Glu273Ala Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Glu273Gly Single submitter ⚠
p.Glu325Gln Single submitter ⚠
p.Glu331Lys Single submitter ⚠
p.Glu362Lys Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Glu398Lys Single submitter ⚠
p.Glu480Asp Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Glu485Lys Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Glu48Lys Single submitter ⚠
p.Glu69Gln Single submitter ⚠
p.Glu69Lys Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Glu74Asp Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Glu75Asp Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Glu75del Single submitter
p.Gly13Ala Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Gly160Glu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Gly193Ser Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Gly216Arg Single submitter ⚠
p.Gly216Asp Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Gly241Asp Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Gly263Ser Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Gly36Val Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Gly383Trp Single submitter ⚠
p.Gly391Arg Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Gly481Ser Single submitter Inborn genetic diseases ⚠
p.Gly481Val Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Gly497Ser Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Gly497Val Single submitter TH-deficient dopa-responsive dystonia ⚠
p.His111Tyr Single submitter TH-deficient dopa-responsive dystonia ⚠
p.His127Tyr Single submitter Inborn genetic diseases ⚠
p.His215Gln Single submitter TH-deficient dopa-responsive dystonia ⚠
p.His246Gln Single submitter ⚠
p.His330Arg Single submitter ⚠
p.His330Gln Single submitter ⚠
p.His491Asn Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ile229Leu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Ile496Thr Single submitter ⚠
p.Leu113Pro Single submitter dystonic disorder ⚠
p.Leu113Val Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Leu134_Arg137del Single submitter TH-deficient dopa-responsive dystonia
p.Leu145His Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Leu189Val Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Leu258Pro Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Leu444Phe Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Leu464Val Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Leu82Arg Single submitter TH-deficient dopa-responsive dystonia
p.Leu82Val Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Leu84Pro Single submitter ⚠
p.Lys101Arg Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Lys182Gln Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Lys240Asn Single submitter
p.Lys386Glu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Met1Thr Single submitter TH-deficient dopa-responsive dystonia
p.Met30Ile Single submitter TH-deficient dopa-responsive dystonia
p.Phe103Ser Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Phe131Ser Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Phe14Leu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Phe183Leu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Phe211Leu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Phe255Leu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Phe308Cys Single submitter ⚠
p.Phe412Leu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Phe432Leu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Phe73Leu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Pro158Leu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Pro192= Single submitter TH-deficient dopa-responsive dystonia
p.Pro192Leu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Pro192Ser Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Pro218Ser Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Pro32Leu Single submitter Inborn genetic diseases ⚠
p.Pro407Ala Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Pro414Ser Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Pro414Thr Single submitter ⚠
p.Pro421Leu Single submitter TH-deficient dopa-responsive dystonia ⚠
p.Pro4Leu Single submitter TH-deficient dopa-responsive dystonia ⚠