HBD — 40 ClinVar variants
All ClinVar germline HBD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
6 Pathogenic · 2 Conflicting · 2 Benign · 1 Likely benign · 29 Uncertain significance
Full HBD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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.
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HBD p.Ala28Ser
Conflicting
Single submitter
Fetal hemoglobin quantitative trait locus 1
Predictors lean, ClinVar uncertain 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
HBD p.Thr5Ile
Uncertain significance
Multiple submitters
thalassemia
-
HBD p.Ala28Asp
Uncertain significance
Single submitter
Fetal hemoglobin quantitative trait locus 1
-
HBD p.Arg117Cys
Uncertain significance
Single submitter
thalassemia
-
HBD p.Gly26Ser
Uncertain significance
Single submitter
Fetal hemoglobin quantitative trait locus 1
- HBD p.Gly65Ser Uncertain significance Single submitter
- HBD p.His93Pro Uncertain significance Single submitter
-
HBD p.Leu111Pro
Uncertain significance
Single submitter
thalassemia
- HBD p.Phe119Val Uncertain significance Single submitter
- HBD p.Pro6Ala Uncertain significance Single submitter
- HBD p.Ser45Phe Uncertain significance Single submitter
- HBD p.Thr124Ser Uncertain significance Single submitter
- HBD p.Val35Asp Uncertain significance Single submitter
- HBD p.Val35Ile Uncertain significance Single submitter
- HBD p.Val99Glu Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- HBD p.Gly137Asp Pathogenic Single submitter
- HBD p.Gly75Val Uncertain significance Single submitter
- HBD p.Leu142Val Uncertain significance Single submitter
- HBD p.Thr10Ile Uncertain significance Single submitter
- HBD p.Tyr146Phe Uncertain significance Single submitter
- HBD p.Val55Leu Uncertain significance Single submitter
All HBD variants
Pathogenic 6
- c.316-2A>G Single submitter
- p.Gly137Asp Single submitter ⚠
- c.315+6T>A No assertion criteria delta Thalassemia
- p.Arg31Thr No assertion criteria delta Thalassemia
- p.Lys60fs No assertion criteria Delta-0-thalassemia
- p.Trp38Ter No assertion criteria Delta-0-thalassemia
Conflicting classifications of pathogenicity 2
- c.-118C>T Single submitter delta-beta-thalassemia
- p.Ala28Ser Single submitter Fetal hemoglobin quantitative trait locus 1 ⚠
Benign 2
- c.315+146T>G Multiple submitters
- p.His98= Multiple submitters
Likely benign 1
- p.Lys121= No assertion criteria HBD-related disorder
Uncertain significance 29
- p.Gly75= Multiple submitters Fetal hemoglobin quantitative trait locus 1
- p.Thr5Ile Multiple submitters thalassemia ⚠
- c.316-5C>T Single submitter
- c.93-28G>C Single submitter
- c.*102G>A Single submitter HBD-related disorder
- c.*59C>G Single submitter Fetal hemoglobin quantitative trait locus 1
- c.*65T>C Single submitter Fetal hemoglobin quantitative trait locus 1
- c.*91G>A Single submitter Fetal hemoglobin quantitative trait locus 1
- c.*96G>T Single submitter Fetal hemoglobin quantitative trait locus 1
- p.Ala28Asp Single submitter Fetal hemoglobin quantitative trait locus 1 ⚠
- p.Arg117Cys Single submitter thalassemia ⚠
- p.Asn20= Single submitter Fetal hemoglobin quantitative trait locus 1
- p.Gly26Ser Single submitter Fetal hemoglobin quantitative trait locus 1 ⚠
- p.Gly65Ser Single submitter ⚠
- p.Gly75Val Single submitter ⚠
- p.His93Pro Single submitter ⚠
- p.Leu111Pro Single submitter thalassemia ⚠
- p.Leu142Val Single submitter ⚠
- p.Phe119Val Single submitter ⚠
- p.Pro6Ala Single submitter ⚠
- p.Ser45Phe Single submitter ⚠
- p.Thr10Ile Single submitter ⚠
- p.Thr124Ser Single submitter ⚠
- p.Tyr146Phe Single submitter ⚠
- p.Val2= Single submitter Fetal hemoglobin quantitative trait locus 1
- p.Val35Asp Single submitter ⚠
- p.Val35Ile Single submitter ⚠
- p.Val55Leu Single submitter ⚠
- p.Val99Glu Single submitter ⚠