Sugi Variant

Sugi Variant/DUOX2

DUOX2 — 2262 ClinVar variants

All ClinVar germline DUOX2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 879 flagged for review →

112 Pathogenic · 40 Pathogenic/Likely pathogenic · 79 Likely pathogenic · 125 Conflicting · 68 Benign · 26 Benign/Likely benign · 834 Likely benign · 978 Uncertain significance

Full DUOX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 879

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 5

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

Predictors agree, ClinVar conflicts 53

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

Predictors lean, ClinVar uncertain 637

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 637

Predictors split 184

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 184

All DUOX2 variants

Pathogenic 112

Pathogenic/Likely pathogenic 40

Likely pathogenic 79

Conflicting classifications of pathogenicity 125

Benign 68

Benign/Likely benign 26

  • c.1693+10G>A Multiple submitters thyroid dyshormonogenesis 6
  • c.2148+9C>T Multiple submitters thyroid dyshormonogenesis 6
  • c.2334+10C>T Multiple submitters thyroid dyshormonogenesis 6
  • c.3515+15T>A Multiple submitters thyroid dyshormonogenesis 6
  • c.3848-16T>C Multiple submitters
  • p.Ala1014= Multiple submitters thyroid dyshormonogenesis 6
  • p.Ala1087= Multiple submitters thyroid dyshormonogenesis 6
  • p.Ala728Thr Multiple submitters Meckel syndrome, type 11
  • p.Arg101= Multiple submitters thyroid dyshormonogenesis 6
  • p.Arg434= Multiple submitters thyroid dyshormonogenesis 6
  • p.Arg701Gln Multiple submitters thyroid dyshormonogenesis 6
  • p.Asn167= Multiple submitters thyroid dyshormonogenesis 6
  • p.Gln762= Multiple submitters thyroid dyshormonogenesis 6
  • p.Glu1017Gly Multiple submitters thyroid dyshormonogenesis 6
  • p.Gly487= Multiple submitters thyroid dyshormonogenesis 6
  • p.His678Arg Multiple submitters thyroid dyshormonogenesis 6
  • p.Leu171Pro Multiple submitters thyroid dyshormonogenesis 6
  • p.Leu505= Multiple submitters
  • p.Met1019Val Multiple submitters
  • p.Pro1493= Multiple submitters thyroid dyshormonogenesis 6
  • p.Pro596Ser Multiple submitters thyroid dyshormonogenesis 6
  • p.Pro982Ala Multiple submitters thyroid dyshormonogenesis 6
  • p.Ser1067Leu Multiple submitters thyroid dyshormonogenesis 6
  • p.Ser1322= Multiple submitters thyroid dyshormonogenesis 6
  • p.Tyr1286His Multiple submitters
  • p.Tyr413= Multiple submitters

Likely benign 834

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

Uncertain significance 978

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