Sugi Variant

Sugi Variant/THBD

THBD — 698 ClinVar variants

All ClinVar germline THBD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 414 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 43 Conflicting · 25 Benign · 14 Benign/Likely benign · 103 Likely benign · 504 Uncertain significance

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

⚑ Evidence disagreements 414

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 29

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

Predictors lean, ClinVar uncertain 332

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 332

Predictors split 53

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

All THBD variants

Pathogenic 1

  • p.Ala48Thr No assertion criteria thrombomodulin-related bleeding disorder

Pathogenic/Likely pathogenic 1

  • p.Cys537Ter Multiple submitters Bleeding and platelet disorders

Likely pathogenic 7

  • p.Pro496fs Multiple submitters thrombomodulin-related bleeding disorder
  • p.Ala43fs Single submitter thrombomodulin-related bleeding disorder
  • p.Cys349fs Single submitter THBD-related disorder
  • p.Cys464Ter Single submitter
  • p.Cys480_Asp481delinsTer Single submitter thrombomodulin-related bleeding disorder
  • p.Ser307Ter Single submitter thrombomodulin-related bleeding disorder
  • p.Val454fs Single submitter thrombomodulin-related bleeding disorder

Conflicting classifications of pathogenicity 43

  • c.*1469C>T Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • p.Ala19= Single submitter kidney disorder
  • p.Ala236Gly Single submitter thrombomodulin-related bleeding disorder ⚠
  • p.Ala239Val Single submitter thrombomodulin-related bleeding disorder ⚠
  • p.Ala282Pro Single submitter thrombomodulin-related bleeding disorder ⚠
  • p.Ala43Thr Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly ⚠
  • p.Ala531Val Single submitter Inborn genetic diseases ⚠
  • p.Arg101Pro Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly ⚠
  • p.Arg315Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg322Leu Single submitter THBD-related disorder ⚠
  • p.Arg56= Single submitter
  • p.Asn289His Single submitter Inborn genetic diseases ⚠
  • p.Asn299= Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • p.Asp163= Single submitter
  • p.Asp469Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp98Asn Single submitter ⚠
  • p.Gln302Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly26Ala Single submitter thrombomodulin-related bleeding disorder ⚠
  • p.Gly483Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly502Arg Single submitter thrombomodulin-related bleeding disorder ⚠
  • p.Gly82fs Single submitter thrombomodulin-related bleeding disorder
  • p.His565= Single submitter
  • p.His58Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ile330Leu Single submitter Inborn genetic diseases ⚠
  • p.Lys161Asn Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly ⚠
  • p.Pro208Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro228Leu Single submitter thrombomodulin-related bleeding disorder ⚠
  • p.Pro300Thr Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly ⚠
  • p.Pro353Thr Single submitter atypical hemolytic-uremic syndrome ⚠
  • p.Pro368Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro459Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro495Ser Single submitter thrombomodulin-related bleeding disorder ⚠
  • p.Pro508Leu Single submitter thrombomodulin-related bleeding disorder ⚠
  • p.Pro93Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro94= Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • p.Ser307Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser65= Single submitter
  • p.Thr225= Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • p.Thr421Asn Single submitter Inborn genetic diseases ⚠
  • p.Thr500= Single submitter
  • p.Trp153Ter Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • p.Tyr39Phe Single submitter thrombomodulin-related bleeding disorder ⚠
  • p.Val454Ala Single submitter Inborn genetic diseases ⚠

Benign 25

  • c.-58G>C Multiple submitters thrombomodulin-related bleeding disorder
  • c.*1001A>C Multiple submitters atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*1918G>A Multiple submitters atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*1993T>C Multiple submitters atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*26C>T Multiple submitters atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*277G>A Multiple submitters atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*321G>T Multiple submitters atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*351A>G Multiple submitters atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*41T>C Multiple submitters atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*793A>G Multiple submitters atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*87T>G Multiple submitters atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*1171C>G Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*1239G>A Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*1271G>T Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*1562G>T Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*1770T>C Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*2129C>A Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*2143C>T Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*47C>T Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*497G>A Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*511T>G Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*520C>G Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • c.*759A>T Single submitter atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • p.Gly57= Single submitter
  • p.Thr568= Single submitter

Benign/Likely benign 14

  • c.-151G>T Multiple submitters atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • p.Ala187= Multiple submitters
  • p.Ala473Val Multiple submitters atypical hemolytic-uremic syndrome
  • p.Arg403Lys Multiple submitters atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • p.Asn116Thr Multiple submitters atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • p.Asp486Tyr Multiple submitters kidney disorder
  • p.Gln344= Multiple submitters
  • p.Glu181= Multiple submitters thrombomodulin-related bleeding disorder
  • p.Glu364= Multiple submitters atypical hemolytic-uremic syndrome
  • p.Gly14Ser Multiple submitters thrombomodulin-related bleeding disorder
  • p.Leu12= Multiple submitters
  • p.Pro501Leu Multiple submitters atypical hemolytic-uremic syndrome
  • p.Ser452= Multiple submitters kidney disorder
  • p.Thr343= Multiple submitters atypical hemolytic-uremic syndrome with thrombomodulin anomaly

Likely benign 103

Uncertain significance 504

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