NQO1 — 250 ClinVar variants

All ClinVar germline NQO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 120 flagged for review →

2 Likely pathogenic · 1 Benign · 1 Benign/Likely benign · 116 Likely benign · 130 Uncertain significance

Full NQO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 120

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 lean, ClinVar uncertain 93

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 27

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

All NQO1 variants

Likely pathogenic 2

p.Gln183Ter Single submitter
p.Phe179Ile Single submitter

Benign 1

p.Glu24= No assertion criteria NQO1-related disorder

Benign/Likely benign 1

p.Gln269His Multiple submitters ⚠

Likely benign 116

p.His195= Multiple submitters
p.Ala143= Single submitter
p.Ala21= Single submitter
p.Ala235= Single submitter
p.Ala27= Single submitter
p.Ala272= Single submitter
p.Ala28= Single submitter
p.Ala44= Single submitter
p.Ala64= Single submitter
p.Ala70= Single submitter
p.Ala70Val Single submitter
p.Ala94= Single submitter
p.Arg119= Single submitter
p.Arg139= Single submitter
p.Arg139Gln Single submitter
p.Arg4= Single submitter
p.Asn48= Single submitter
p.Asp134= Single submitter
p.Asp164= Single submitter
p.Asp199= Single submitter
p.Asp230= Single submitter
p.Asp245Glu Single submitter
p.Asp267= Single submitter
p.Asp41= Single submitter
p.Asp55= Single submitter
p.Asp62= Single submitter
p.Asp84= Single submitter
p.Gln105= Single submitter
p.Gln188= Single submitter
p.Gln203= Single submitter
p.Glu118= Single submitter
p.Glu213= Single submitter
p.Glu246= Single submitter
p.Glu247= Single submitter
p.Glu36= Single submitter
p.Glu39= Single submitter
p.Glu71= Single submitter
p.Gly123= Single submitter
p.Gly153= Single submitter
p.Gly163= Single submitter
p.Gly175= Single submitter
p.Gly181= Single submitter
p.Gly194= Single submitter
p.Gly207= Single submitter
p.Gly253= Single submitter
p.Gly261= Single submitter
p.Gly34= Single submitter
p.His12= Single submitter
p.His162= Single submitter
p.His258= Single submitter
p.His259= Single submitter
p.His80= Single submitter
p.Ile147= Single submitter
p.Ile204= Single submitter
p.Ile215= Single submitter
p.Ile264= Single submitter
p.Ile8= Single submitter
p.Ile85= Single submitter
p.Leu10= Single submitter
p.Leu104= Single submitter
p.Leu158= Single submitter
p.Leu177= Single submitter
p.Leu189= Single submitter
p.Leu205= Single submitter
p.Leu212= Single submitter
p.Leu221= Single submitter
p.Leu228= Single submitter
p.Leu231= Single submitter
p.Leu260= Single submitter
p.Leu30= Single submitter
p.Leu60= Single submitter
p.Leu81= Single submitter
p.Leu97= Single submitter
p.Lys114= Single submitter
p.Lys142= Single submitter
p.Lys23= Single submitter
p.Lys54= Single submitter
p.Lys77= Single submitter
p.Phe102= Single submitter
p.Phe117= Single submitter
p.Phe121= Single submitter
p.Phe121Leu Single submitter
p.Phe125= Single submitter
p.Phe18= Single submitter
p.Pro137= Single submitter
p.Pro187= Single submitter
p.Pro265= Single submitter
p.Ser146= Single submitter
p.Ser152= Single submitter
p.Ser154= Single submitter
p.Ser192= Single submitter
p.Ser226= Single submitter
p.Ser255= Single submitter
p.Ser263= Single submitter
p.Ser40= Single submitter
p.Ter275= Single submitter
p.Thr128= Single submitter
p.Thr16= Single submitter
p.Thr190= Single submitter
p.Thr219= Single submitter
p.Thr266= Single submitter
p.Tyr127= Single submitter
p.Tyr129= Single submitter
p.Tyr133= Single submitter
p.Tyr156= Single submitter
p.Tyr191= Single submitter
p.Tyr20= Single submitter
p.Tyr76= Single submitter
p.Val109= Single submitter
p.Val144= Single submitter
p.Val167= Single submitter
p.Val256= Single submitter
p.Val37= Single submitter
p.Val38= Single submitter
p.Val86= Single submitter
p.Val98= Single submitter

Uncertain significance 130

p.Ala111Gly Single submitter ⚠
p.Ala111Thr Single submitter
p.Ala126Ser Single submitter ⚠
p.Ala143Glu Single submitter ⚠
p.Ala198Glu Single submitter ⚠
p.Ala200Gly Single submitter ⚠
p.Ala200Thr Single submitter ⚠
p.Ala200Val Single submitter ⚠
p.Ala21Thr Single submitter ⚠
p.Ala224Ser Single submitter ⚠
p.Ala235Gly Single submitter ⚠
p.Ala272Asp Single submitter ⚠
p.Ala27Thr Single submitter ⚠
p.Ala94Ser Single submitter ⚠
p.Ala94Val Single submitter ⚠
p.Ala95Thr Single submitter ⚠
p.Ala95Val Single submitter
p.Arg139Leu Single submitter ⚠
p.Arg201Leu Single submitter
p.Arg211Cys Single submitter
p.Arg211His Single submitter ⚠
p.Arg273Gly Single submitter ⚠
p.Asn19Lys Single submitter ⚠
p.Asn214Ser Single submitter ⚠
p.Asn65Lys Single submitter ⚠
p.Asp134Asn Single submitter ⚠
p.Asp217Glu Single submitter ⚠
p.Asp230Ala Single submitter ⚠
p.Asp245His Single submitter ⚠
p.Asp267Asn Single submitter ⚠
p.Asp267Val Single submitter ⚠
p.Asp55Val Single submitter ⚠
p.Gln234His Single submitter ⚠
p.Gln269Glu Single submitter ⚠
p.Glu118Val Single submitter ⚠
p.Glu124Gln Single submitter ⚠
p.Glu186Gln Single submitter ⚠
p.Glu246Gly Single submitter ⚠
p.Glu247Lys Single submitter ⚠
p.Glu39Gln Single submitter ⚠
p.Glu78Asp Single submitter ⚠
p.Glu93Val Single submitter ⚠
p.Gly163Arg Single submitter ⚠
p.Gly236Arg Single submitter
p.Gly257Ser Single submitter ⚠
p.Gly58Val Single submitter ⚠
p.His195Asp Single submitter ⚠
p.His258Arg Single submitter ⚠
p.His258Tyr Single submitter ⚠
p.His259Tyr Single submitter ⚠
p.Ile112Asn Single submitter ⚠
p.Ile112Leu Single submitter ⚠
p.Ile112Val Single submitter ⚠
p.Ile161Thr Single submitter ⚠
p.Ile172Val Single submitter ⚠
p.Ile193Leu Single submitter ⚠
p.Ile193Met Single submitter ⚠
p.Ile193Thr Single submitter ⚠
p.Ile270Asn Single submitter ⚠
p.Ile51Val Single submitter ⚠
p.Ile85Thr Single submitter ⚠
p.Ile85Val Single submitter ⚠
p.Leu10Gln Single submitter ⚠
p.Leu113Pro Single submitter ⚠
p.Leu169Val Single submitter ⚠
p.Leu177Arg Single submitter ⚠
p.Leu177Val Single submitter ⚠
p.Leu221Met Single submitter ⚠
p.Leu254Phe Single submitter ⚠
p.Leu254Pro Single submitter ⚠
p.Leu260Phe Single submitter ⚠
p.Leu97Phe Single submitter ⚠
p.Lys135Gln Single submitter ⚠
p.Lys141Glu Single submitter ⚠
p.Lys142Gln Single submitter ⚠
p.Lys240Asn Single submitter ⚠
p.Lys250Asn Single submitter ⚠
p.Lys262Arg Single submitter ⚠
p.Lys32Asn Single submitter ⚠
p.Lys33Asn Single submitter ⚠
p.Lys90Asn Single submitter ⚠
p.Lys90Glu Single submitter ⚠
p.Met132Thr Single submitter ⚠
p.Met239Ile Single submitter ⚠
p.Met239Thr Single submitter ⚠
p.Phe100Ile Single submitter ⚠
p.Phe100Val Single submitter
p.Phe102Val Single submitter ⚠
p.Phe107Cys Single submitter ⚠
p.Phe107Ile Single submitter ⚠
p.Phe107Ser Single submitter
p.Phe117Leu Single submitter ⚠
p.Phe117Val Single submitter ⚠
p.Phe223Ser Single submitter ⚠
p.Phe233Leu Single submitter ⚠
p.Phe252Leu Single submitter ⚠
p.Pro137His Single submitter ⚠
p.Pro171Thr Single submitter
p.Pro187Ser Single submitter NQO1-related disorder
p.Pro197Arg Single submitter ⚠
p.Pro220Thr Single submitter ⚠
p.Pro49Leu Single submitter
p.Pro69Thr Single submitter ⚠
p.Ser140Cys Single submitter ⚠
p.Ser152Asn Single submitter ⚠
p.Ser174Asn Single submitter ⚠
p.Ser192Cys Single submitter ⚠
p.Ser226Arg Single submitter ⚠
p.Ser263Cys Single submitter ⚠
p.Ser263Thr Single submitter ⚠
p.Ser40Trp Single submitter ⚠
p.Ser52Pro Single submitter ⚠
p.Ser82Cys Single submitter ⚠
p.Ser82Gly Single submitter ⚠
p.Thr190Lys Single submitter ⚠
p.Thr196Asn Single submitter ⚠
p.Thr219Ile Single submitter ⚠
p.Thr57Arg Single submitter ⚠
p.Trp106Arg Single submitter ⚠
p.Tyr129His Single submitter ⚠
p.Tyr156Cys Single submitter
p.Tyr20His Single submitter ⚠
p.Tyr20Ser Single submitter ⚠
p.Tyr222His Single submitter ⚠
p.Tyr43Ser Single submitter ⚠
p.Tyr68His Single submitter ⚠
p.Tyr76Cys Single submitter ⚠
p.Val256Met Single submitter ⚠
p.Val38Gly Single submitter ⚠
p.Val86Met Single submitter ⚠