NOX1 — 85 ClinVar variants

All ClinVar germline NOX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →

1 Conflicting · 3 Benign · 1 Benign/Likely benign · 16 Likely benign · 64 Uncertain significance

Full NOX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 61

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 1

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

NOX1 p.His426Gln Conflicting Single submitter

Predictors lean, ClinVar uncertain 45

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

Predictors split 15

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

All NOX1 variants

Conflicting classifications of pathogenicity 1

p.His426Gln Single submitter ⚠

Benign 3

p.Arg378Lys Multiple submitters
p.Ser255= Multiple submitters
p.Ile114Val No assertion criteria NOX1-related disorder

Benign/Likely benign 1

p.Arg241Cys Multiple submitters

Likely benign 16

p.Arg356Ter Multiple submitters
p.Met302Val Multiple submitters
p.Met312Thr Multiple submitters
p.Arg228= Single submitter
p.Arg534Gln Single submitter
p.Gly151= Single submitter
p.Gly152Asp Single submitter
p.Gly466Asp Single submitter
p.Leu210Ile Single submitter ⚠
p.Met181Ile Single submitter
p.Thr163Met Single submitter
p.Thr453Ala Single submitter
p.Thr65Met Single submitter
c.141+5G>C No assertion criteria NOX1-related disorder
c.142-4G>A No assertion criteria NOX1-related disorder
p.Ile413Val No assertion criteria NOX1-related disorder

Uncertain significance 64

c.672-5T>G Single submitter
c.898-1G>A Single submitter
p.Ala388Thr Single submitter ⚠
p.Ala492Ser Single submitter ⚠
p.Ala57Thr Single submitter ⚠
p.Arg128Gly Single submitter ⚠
p.Arg130Gln Single submitter ⚠
p.Arg130Leu Single submitter ⚠
p.Arg197Trp Single submitter ⚠
p.Arg228Trp Single submitter ⚠
p.Arg259Cys Single submitter ⚠
p.Arg259Ser Single submitter ⚠
p.Arg287fs Single submitter
p.Arg290His Single submitter ⚠
p.Arg534Trp Single submitter ⚠
p.Arg88Cys Single submitter ⚠
p.Asn488Lys Single submitter ⚠
p.Asn7Lys Single submitter ⚠
p.Asp349Val Single submitter ⚠
p.Glu336Gln Single submitter ⚠
p.Glu456Ala Single submitter ⚠
p.Gly406Arg Single submitter ⚠
p.Gly443Val Single submitter ⚠
p.Gly532Arg Single submitter ⚠
p.Gly81Asp Single submitter ⚠
p.His209Tyr Single submitter ⚠
p.His545Arg Single submitter ⚠
p.Ile186Thr Single submitter ⚠
p.Ile281Ser Single submitter ⚠
p.Ile417Val Single submitter ⚠
p.Ile517Val Single submitter ⚠
p.Leu19Ter Single submitter
p.Leu58Phe Single submitter ⚠
p.Lys150Asn Single submitter ⚠
p.Lys306Gln Single submitter ⚠
p.Met107Thr Single submitter ⚠
p.Phe247Ser Single submitter ⚠
p.Phe288Leu Single submitter ⚠
p.Phe435Leu Single submitter ⚠
p.Phe489Ser Single submitter ⚠
p.Phe505Leu Single submitter ⚠
p.Phe557Ser Single submitter ⚠
p.Pro375Thr Single submitter ⚠
p.Ser352Phe Single submitter ⚠
p.Ser389Arg Single submitter ⚠
p.Ser77Cys Single submitter ⚠
p.Thr133Ala Single submitter ⚠
p.Thr164Pro Single submitter ⚠
p.Thr430Ser Single submitter ⚠
p.Thr99Ile Single submitter ⚠
p.Trp18Cys Single submitter ⚠
p.Trp18Ser Single submitter ⚠
p.Trp9Gly Single submitter ⚠
p.Tyr106Asp Single submitter ⚠
p.Tyr280Cys Single submitter ⚠
p.Tyr280Phe Single submitter ⚠
p.Tyr40His Single submitter ⚠
p.Val179Leu Single submitter ⚠
p.Val23Ile Single submitter ⚠
p.Val27Leu Single submitter ⚠
p.Val327Ala Single submitter ⚠
p.Val392Ile Single submitter ⚠
p.Val465Met Single submitter ⚠
c.1134-1G>C No assertion criteria neuroferritinopathy