THAP1 — 215 ClinVar variants
All ClinVar germline THAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →
25 Pathogenic · 9 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 13 Conflicting · 21 Benign · 6 Benign/Likely benign · 28 Likely benign · 98 Uncertain significance
Full THAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 75
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 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
THAP1 p.Ala115Pro
Conflicting
Single submitter
Inborn genetic diseases
-
THAP1 p.Asp192Asn
Conflicting
Single submitter
torsion dystonia 6
-
THAP1 p.Cys5Tyr
Conflicting
Single submitter
torsion dystonia 6
-
THAP1 p.Ile80Val
Conflicting
Single submitter
torsion dystonia 6
-
THAP1 p.Val193Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
THAP1 p.Arg196Gly
Uncertain significance
Multiple submitters
young-onset Parkinson disease
-
THAP1 p.Ile116Leu
Uncertain significance
Multiple submitters
torsion dystonia 6
-
THAP1 p.Lys18Glu
Uncertain significance
Multiple submitters
torsion dystonia 6
-
THAP1 p.Met120Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
THAP1 p.Met143Val
Uncertain significance
Multiple submitters
torsion dystonia 6
-
THAP1 p.Ser21Ala
Uncertain significance
Multiple submitters
torsion dystonia 6
-
THAP1 p.Thr125Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
THAP1 p.Val183Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
THAP1 p.Ala166Thr
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Ala38Thr
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Ala7Asp
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Arg13Cys
Uncertain significance
Single submitter
torsion dystonia 6
- THAP1 p.Arg169Gly Uncertain significance Single submitter
-
THAP1 p.Arg171Gly
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Arg175Gln
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Asn128His
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Cys54Ser
Uncertain significance
Single submitter
torsion dystonia 6
- THAP1 p.Cys5Gly Uncertain significance Single submitter
-
THAP1 p.Cys83Arg
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Cys83Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
THAP1 p.Gln154Glu
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Gln155Pro
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Glu189Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
THAP1 p.Glu210Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- THAP1 p.Glu37Lys Uncertain significance Single submitter
-
THAP1 p.His150Pro
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.His87Arg
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Ile208Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
THAP1 p.Leu100Phe
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Leu105Ser
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Leu32Ile
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Leu93Ile
Uncertain significance
Single submitter
torsion dystonia 6
- THAP1 p.Lys162Asn Uncertain significance Single submitter
-
THAP1 p.Phe22Leu
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Phe22Ser
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Phe81Val
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Pro101Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- THAP1 p.Pro102Ser Uncertain significance Single submitter
-
THAP1 p.Pro104Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
THAP1 p.Pro106Ser
Uncertain significance
Single submitter
torsion dystonia 6
- THAP1 p.Pro122Leu Uncertain significance Single submitter
- THAP1 p.Pro47Leu Uncertain significance Single submitter
- THAP1 p.Ser4Pro Uncertain significance Single submitter
-
THAP1 p.Ser51Arg
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Ser55Leu
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Thr142Ala
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Thr48Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- THAP1 p.Val156Gly Uncertain significance Single submitter
-
THAP1 p.Val183Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
THAP1 p.Val40Ile
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 20
The independent predictors disagree with each other — read with care.
-
THAP1 p.Arg169Gln
Uncertain significance
Multiple submitters
torsion dystonia 6
-
THAP1 p.Asp141Asn
Benign/Likely benign
Multiple submitters
torsion dystonia 6
-
THAP1 p.His23Arg
Uncertain significance
Multiple submitters
torsion dystonia 6
- THAP1 p.Arg29Gln Likely pathogenic Single submitter
-
THAP1 p.Asp141Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
THAP1 p.Cys133Tyr
Uncertain significance
Single submitter
torsion dystonia 6
- THAP1 p.Glu140Asp Uncertain significance Single submitter
-
THAP1 p.Gly197Asp
Conflicting
Single submitter
Inborn genetic diseases
-
THAP1 p.His135Tyr
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Lys89Arg
Conflicting
Single submitter
torsion dystonia 6
-
THAP1 p.Met120Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
THAP1 p.Met120Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
THAP1 p.Phe81Leu
Conflicting
Single submitter
torsion dystonia 6
-
THAP1 p.Pro103Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
THAP1 p.Pro202Ser
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Pro78Ser
Uncertain significance
Single submitter
torsion dystonia 6
-
THAP1 p.Ser4Phe
Conflicting
Single submitter
torsion dystonia 6
-
THAP1 p.Tyr50Cys
Uncertain significance
Single submitter
torsion dystonia 6
- THAP1 p.Val20Leu Uncertain significance Single submitter
-
THAP1 p.Val77Met
Uncertain significance
Single submitter
torsion dystonia 6
All THAP1 variants
Pathogenic 25
- p.Glu66fs Multiple submitters torsion dystonia 6
- p.Phe45fs Multiple submitters torsion dystonia 6
- p.Ala38_Ala39insGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluTrpGluAla Single submitter torsion dystonia 6
- p.Ala38fs Single submitter torsion dystonia 6
- p.Asn44fs Single submitter torsion dystonia 6
- p.Gln111Ter Single submitter torsion dystonia 6
- p.Gln3Ter Single submitter torsion dystonia 6
- p.Gln97Ter Single submitter torsion dystonia 6
- p.Ile116fs Single submitter torsion dystonia 6
- p.Lys24fs Single submitter torsion dystonia 6
- p.Lys34fs Single submitter torsion dystonia 6
- p.Met1Leu Single submitter torsion dystonia 6
- p.Met1Thr Single submitter torsion dystonia 6
- p.Met1Val Single submitter torsion dystonia 6
- p.Phe22fs Single submitter torsion dystonia 6
- p.Phe45Cys Single submitter torsion dystonia 6
- p.Pro103fs Single submitter torsion dystonia 6
- p.Ser21Cys Single submitter torsion dystonia 6
- p.Trp36Ter Single submitter torsion dystonia 6
- p.Gln154fs No assertion criteria torsion dystonia 6
- p.Gly9Cys No assertion criteria torsion dystonia 6
- p.His23Pro No assertion criteria torsion dystonia 6
- p.Lys158fs No assertion criteria torsion dystonia 6
- p.Lys24Glu No assertion criteria torsion dystonia 6
- p.Val131fs No assertion criteria torsion dystonia 6
Pathogenic/Likely pathogenic 9
- c.270_273del Multiple submitters torsion dystonia 6
- p.Arg169Ter Multiple submitters torsion dystonia 6
- p.Arg29Pro Multiple submitters Inborn genetic diseases
- p.Arg29Ter Multiple submitters THAP1-related disorder
- p.Asn69del Multiple submitters torsion dystonia 6
- p.Lys161fs Multiple submitters torsion dystonia 6
- p.Met1fs Multiple submitters torsion dystonia 6
- p.Pro26Leu Multiple submitters torsion dystonia 6
- p.Ser130Ter Multiple submitters torsion dystonia 6
Likely pathogenic 15
- p.Gly9Ser Multiple submitters torsion dystonia 6
- p.Ser21Phe Multiple submitters torsion dystonia 6
- c.268-1G>C Single submitter torsion dystonia 6
- p.Arg29Gln Single submitter ⚠
- p.Arg29Gly Single submitter torsion dystonia 6
- p.Asn12Lys Single submitter
- p.Cys67fs Single submitter torsion dystonia 6
- p.Glu98Ter Single submitter
- p.Leu32Phe Single submitter THAP1-related disorder
- p.Lys16Glu Single submitter torsion dystonia 6
- p.Lys64fs Single submitter torsion dystonia 6
- p.Ser130fs Single submitter torsion dystonia 6
- p.Trp36Cys Single submitter torsion dystonia 6
- p.Tyr137Ter Single submitter THAP1-related disorder
- p.Ala7Thr No assertion criteria dystonic disorder
Conflicting classifications of pathogenicity 13
- c.267+6A>G Single submitter torsion dystonia 6
- c.268-53_386del Single submitter torsion dystonia 6
- p.Ala115Pro Single submitter Inborn genetic diseases ⚠
- p.Asn12= Single submitter torsion dystonia 6
- p.Asp15del Single submitter torsion dystonia 6
- p.Asp192Asn Single submitter torsion dystonia 6 ⚠
- p.Cys5Tyr Single submitter torsion dystonia 6 ⚠
- p.Gly197Asp Single submitter Inborn genetic diseases ⚠
- p.Ile80Val Single submitter torsion dystonia 6 ⚠
- p.Lys89Arg Single submitter torsion dystonia 6 ⚠
- p.Phe81Leu Single submitter torsion dystonia 6 ⚠
- p.Ser4Phe Single submitter torsion dystonia 6 ⚠
- p.Val193Ile Single submitter Inborn genetic diseases ⚠
Benign 21
- c.268-87A>G Multiple submitters
- c.-236A>T Multiple submitters torsion dystonia 6
- c.-237G>T Multiple submitters torsion dystonia 6
- c.*297A>G Multiple submitters torsion dystonia 6
- c.*686A>G Multiple submitters torsion dystonia 6
- c.*803G>A Multiple submitters torsion dystonia 6
- c.268-4T>A Single submitter torsion dystonia 6
- c.71+126T>C Single submitter
- c.72-174dup Single submitter
- c.-240G>A Single submitter torsion dystonia 6
- c.-48C>T Single submitter torsion dystonia 6
- c.*1157A>G Single submitter torsion dystonia 6
- c.*1250G>A Single submitter torsion dystonia 6
- c.*126T>A Single submitter torsion dystonia 6
- c.*190C>A Single submitter torsion dystonia 6
- c.*434A>G Single submitter torsion dystonia 6
- c.*455A>G Single submitter torsion dystonia 6
- c.*65G>C Single submitter torsion dystonia 6
- c.*745G>T Single submitter torsion dystonia 6
- p.Lys16Arg Single submitter torsion dystonia 6
- p.Lys179= Single submitter torsion dystonia 6
Benign/Likely benign 6
Likely benign 28
- p.Leu71= Multiple submitters torsion dystonia 6
- p.Pro121= Multiple submitters torsion dystonia 6
- p.Thr165= Multiple submitters Inborn genetic diseases
- c.71+16G>A Single submitter torsion dystonia 6
- c.71+20C>T Single submitter torsion dystonia 6
- c.71+250C>T Single submitter
- c.71+8C>T Single submitter torsion dystonia 6
- c.72-9T>A Single submitter
- c.-40T>C Single submitter torsion dystonia 6
- p.Ala39= Single submitter
- p.Arg13= Single submitter torsion dystonia 6
- p.Arg175= Single submitter torsion dystonia 6
- p.Asp191= Single submitter
- p.Asp192= Single submitter torsion dystonia 6
- p.Cys33= Single submitter
- p.Glu35= Single submitter torsion dystonia 6
- p.His144= Single submitter torsion dystonia 6
- p.Leu119= Single submitter torsion dystonia 6
- p.Leu201= Single submitter torsion dystonia 6
- p.Phe186= Single submitter torsion dystonia 6
- p.Phe22= Single submitter torsion dystonia 6
- p.Phe45= Single submitter torsion dystonia 6
- p.Pro106= Single submitter torsion dystonia 6
- p.Pro202= Single submitter torsion dystonia 6
- p.Thr142= Single submitter torsion dystonia 6
- p.Tyr198= Single submitter torsion dystonia 6
- p.Val139= Single submitter torsion dystonia 6
- p.Val20= Single submitter torsion dystonia 6
Uncertain significance 98
- p.Arg169Gln Multiple submitters torsion dystonia 6 ⚠
- p.Arg196Gly Multiple submitters young-onset Parkinson disease ⚠
- p.His23Arg Multiple submitters torsion dystonia 6 ⚠
- p.Ile116Leu Multiple submitters torsion dystonia 6 ⚠
- p.Lys18Glu Multiple submitters torsion dystonia 6 ⚠
- p.Met120Val Multiple submitters Inborn genetic diseases ⚠
- p.Met143Val Multiple submitters torsion dystonia 6 ⚠
- p.Phe132Ser Multiple submitters THAP1-related disorder
- p.Ser21Ala Multiple submitters torsion dystonia 6 ⚠
- p.Thr125Pro Multiple submitters Inborn genetic diseases ⚠
- p.Val183Phe Multiple submitters Inborn genetic diseases ⚠
- c.267+4A>G Single submitter torsion dystonia 6
- c.268-159A>G Single submitter torsion dystonia 6
- c.268-2A>G Single submitter torsion dystonia 6
- c.268-5T>C Single submitter torsion dystonia 6
- c.72-10_72-9delinsGC Single submitter torsion dystonia 6
- c.-101C>G Single submitter torsion dystonia 6
- c.-111T>C Single submitter torsion dystonia 6
- c.-118G>A Single submitter torsion dystonia 6
- c.-15C>T Single submitter torsion dystonia 6
- c.-34G>A Single submitter torsion dystonia 6
- c.*1032G>A Single submitter torsion dystonia 6
- c.*1138T>A Single submitter torsion dystonia 6
- c.*1235C>A Single submitter torsion dystonia 6
- c.*137C>A Single submitter torsion dystonia 6
- c.*139A>G Single submitter torsion dystonia 6
- c.*141A>G Single submitter torsion dystonia 6
- c.*156A>G Single submitter torsion dystonia 6
- c.*245T>C Single submitter torsion dystonia 6
- c.*459A>C Single submitter torsion dystonia 6
- c.*598A>G Single submitter torsion dystonia 6
- c.*777A>G Single submitter torsion dystonia 6
- c.*795A>G Single submitter torsion dystonia 6
- c.*835A>G Single submitter torsion dystonia 6
- c.*877A>G Single submitter torsion dystonia 6
- c.*999G>A Single submitter torsion dystonia 6
- p.Ala166Thr Single submitter torsion dystonia 6 ⚠
- p.Ala38Thr Single submitter torsion dystonia 6 ⚠
- p.Ala7Asp Single submitter torsion dystonia 6 ⚠
- p.Arg13Cys Single submitter torsion dystonia 6 ⚠
- p.Arg148Lys Single submitter torsion dystonia 6
- p.Arg169Gly Single submitter ⚠
- p.Arg171Gly Single submitter torsion dystonia 6 ⚠
- p.Arg175Gln Single submitter torsion dystonia 6 ⚠
- p.Asn128His Single submitter torsion dystonia 6 ⚠
- p.Asp141Gly Single submitter Inborn genetic diseases ⚠
- p.Cys133Tyr Single submitter torsion dystonia 6 ⚠
- p.Cys54Ser Single submitter torsion dystonia 6 ⚠
- p.Cys5Gly Single submitter ⚠
- p.Cys83Arg Single submitter torsion dystonia 6 ⚠
- p.Cys83Phe Single submitter Inborn genetic diseases ⚠
- p.Gln154Glu Single submitter torsion dystonia 6 ⚠
- p.Gln155Pro Single submitter torsion dystonia 6 ⚠
- p.Glu140Asp Single submitter ⚠
- p.Glu182del Single submitter
- p.Glu189Asp Single submitter Inborn genetic diseases ⚠
- p.Glu210Lys Single submitter Inborn genetic diseases ⚠
- p.Glu37Lys Single submitter ⚠
- p.Glu56Ala Single submitter Inborn genetic diseases
- p.His135Tyr Single submitter torsion dystonia 6 ⚠
- p.His144fs Single submitter
- p.His150Pro Single submitter torsion dystonia 6 ⚠
- p.His87Arg Single submitter torsion dystonia 6 ⚠
- p.Ile208Met Single submitter Inborn genetic diseases ⚠
- p.Leu100Phe Single submitter torsion dystonia 6 ⚠
- p.Leu105Ser Single submitter torsion dystonia 6 ⚠
- p.Leu32Ile Single submitter torsion dystonia 6 ⚠
- p.Leu93Ile Single submitter torsion dystonia 6 ⚠
- p.Lys162Asn Single submitter ⚠
- p.Lys90= Single submitter
- p.Met120Ile Single submitter Inborn genetic diseases ⚠
- p.Met120Thr Single submitter Inborn genetic diseases ⚠
- p.Phe22Leu Single submitter torsion dystonia 6 ⚠
- p.Phe22Ser Single submitter torsion dystonia 6 ⚠
- p.Phe81Val Single submitter torsion dystonia 6 ⚠
- p.Pro101Ser Single submitter Inborn genetic diseases ⚠
- p.Pro102Ser Single submitter ⚠
- p.Pro103Arg Single submitter Inborn genetic diseases ⚠
- p.Pro104Ala Single submitter Inborn genetic diseases ⚠
- p.Pro106Ser Single submitter torsion dystonia 6 ⚠
- p.Pro121Leu Single submitter torsion dystonia 6
- p.Pro122Leu Single submitter ⚠
- p.Pro202Ser Single submitter torsion dystonia 6 ⚠
- p.Pro47Leu Single submitter ⚠
- p.Pro78Ser Single submitter torsion dystonia 6 ⚠
- p.Ser4Pro Single submitter ⚠
- p.Ser51Arg Single submitter torsion dystonia 6 ⚠
- p.Ser55Leu Single submitter torsion dystonia 6 ⚠
- p.Thr142Ala Single submitter torsion dystonia 6 ⚠
- p.Thr48del Single submitter torsion dystonia 6
- p.Thr48Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr50Cys Single submitter torsion dystonia 6 ⚠
- p.Val156Gly Single submitter ⚠
- p.Val183Ala Single submitter Inborn genetic diseases ⚠
- p.Val20Leu Single submitter ⚠
- p.Val40Ile Single submitter Inborn genetic diseases ⚠
- p.Val77Met Single submitter torsion dystonia 6 ⚠
- p.Val77Ser Single submitter