Sugi Variant

Sugi Variant/HBB

HBB — 1314 ClinVar variants

All ClinVar germline HBB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 183 flagged for review →

182 Pathogenic · 43 Pathogenic/Likely pathogenic · 55 Likely pathogenic · 90 Conflicting · 18 Benign · 11 Benign/Likely benign · 673 Likely benign · 242 Uncertain significance

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

⚑ Evidence disagreements 183

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 12

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

Predictors agree, ClinVar conflicts 32

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

Predictors lean, ClinVar uncertain 80

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

Predictors split 59

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

All HBB variants

Pathogenic 182

Pathogenic/Likely pathogenic 43

  • c.315+2del Multiple submitters beta thalassemia
  • c.316-14T>G Multiple submitters dominant beta-thalassemia
  • c.316-3C>A Multiple submitters erythrocytosis, familial, 6
  • c.92+6T>C Multiple submitters beta-thalassemia HBB/LCRB
  • c.93-3T>G Multiple submitters beta-thalassemia intermedia
  • c.-121C>T Multiple submitters beta-thalassemia HBB/LCRB
  • c.-136C>G Multiple submitters beta thalassemia
  • c.-136C>T Multiple submitters beta thalassemia
  • c.-137C>T Multiple submitters beta-thalassemia HBB/LCRB
  • c.-138C>A Multiple submitters malaria, susceptibility to
  • c.-140C>T Multiple submitters beta-thalassemia HBB/LCRB
  • c.-142C>T Multiple submitters erythrocytosis, familial, 6
  • c.-78A>G Multiple submitters beta-thalassemia HBB/LCRB
  • c.-79A>C Multiple submitters beta thalassemia
  • c.*110_*111del Multiple submitters beta thalassemia
  • c.*110_*114del Multiple submitters beta thalassemia
  • c.*112A>G Multiple submitters beta-thalassemia HBB/LCRB
  • c.*6C>G Multiple submitters beta thalassemia
  • p.Arg31Gly Multiple submitters beta thalassemia
  • p.Glu122Gln Multiple submitters beta-thalassemia HBB/LCRB ⚠
  • p.Glu122Lys Multiple submitters beta-thalassemia HBB/LCRB
  • p.Glu23fs Multiple submitters HBB-related disorder
  • p.Glu7Lys Multiple submitters inherited hemoglobinopathy ⚠
  • p.Gly17= Multiple submitters beta thalassemia
  • p.Gly25= Multiple submitters erythrocytosis, familial, 6
  • p.Gly70fs Multiple submitters beta thalassemia
  • p.His144Arg Multiple submitters beta thalassemia ⚠
  • p.His3fs Multiple submitters hemoglobinopathy
  • p.His64Asn Multiple submitters METHEMOGLOBINEMIA, BETA TYPE
  • p.His64Tyr Multiple submitters Inborn genetic diseases
  • p.Leu115Pro Multiple submitters METHEMOGLOBINEMIA, BETA TYPE
  • p.Leu69Phe Multiple submitters beta-thalassemia HBB/LCRB ⚠
  • p.Leu76fs Multiple submitters beta thalassemia
  • p.Leu79fs Multiple submitters beta thalassemia
  • p.Leu89Pro Multiple submitters beta-thalassemia HBB/LCRB
  • p.Met1Leu Multiple submitters beta thalassemia
  • p.Met1Lys Multiple submitters beta thalassemia
  • p.Phe42fs Multiple submitters beta-thalassemia HBB/LCRB
  • p.Pro37fs Multiple submitters HBB-related disorder
  • p.Pro52fs Multiple submitters HBB-related disorder
  • p.Ser73fs Multiple submitters beta-thalassemia HBB/LCRB
  • p.Val21Met Multiple submitters erythrocytosis, familial, 6 ⚠
  • p.Val99fs Multiple submitters hemoglobinopathy

Likely pathogenic 55

Conflicting classifications of pathogenicity 90

Benign 18

Benign/Likely benign 11

Likely benign 673

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

Uncertain significance 242