HBG1 — 25 ClinVar variants
All ClinVar germline HBG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
1 Conflicting · 8 Benign · 6 Likely benign · 10 Uncertain significance
Full HBG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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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HBG1 p.Glu126Ala
Conflicting
Single submitter
hereditary persistence of fetal hemoglobin
Predictors lean, ClinVar uncertain 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HBG1 p.Ala75Asp Uncertain significance Single submitter
-
HBG1 p.His64Tyr
Uncertain significance
Single submitter
hereditary persistence of fetal hemoglobin
- HBG1 p.His98Leu Uncertain significance Single submitter
- HBG1 p.Leu142Pro Uncertain significance Single submitter
- HBG1 p.Phe123Leu Uncertain significance Single submitter
- HBG1 p.Val138Ala Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
- HBG1 p.Asn58His Uncertain significance Single submitter
-
HBG1 p.Gln40Arg
Likely benign
Single submitter
hereditary persistence of fetal hemoglobin
-
HBG1 p.Glu122Lys
Likely benign
Single submitter
Fetal hemoglobin quantitative trait locus 1
- HBG1 p.Pro59Thr Uncertain significance Single submitter
-
HBG1 p.Thr5Arg
Uncertain significance
Single submitter
hereditary persistence of fetal hemoglobin
All HBG1 variants
Conflicting classifications of pathogenicity 1
- p.Glu126Ala Single submitter hereditary persistence of fetal hemoglobin ⚠
Benign 8
- c.*3T>C Multiple submitters hereditary persistence of fetal hemoglobin
- c.*4C>T Multiple submitters hereditary persistence of fetal hemoglobin
- c.*5A>C Multiple submitters hereditary persistence of fetal hemoglobin
- c.*6C>T Multiple submitters hereditary persistence of fetal hemoglobin
- p.Ala137Gly Multiple submitters hereditary persistence of fetal hemoglobin
- p.Thr76Ile Multiple submitters hereditary persistence of fetal hemoglobin
- c.*2dup No assertion criteria HBG1-related disorder
- c.*6del No assertion criteria HBG1-related disorder
Likely benign 6
- p.Arg41Lys Single submitter hereditary persistence of fetal hemoglobin
- p.Gln40Arg Single submitter hereditary persistence of fetal hemoglobin ⚠
- p.Glu122Lys Single submitter Fetal hemoglobin quantitative trait locus 1 ⚠
- p.Glu6Lys Single submitter hereditary persistence of fetal hemoglobin
- p.Gly26Arg Single submitter Fetal hemoglobin quantitative trait locus 1
- p.Gly73Arg Single submitter hereditary persistence of fetal hemoglobin
Uncertain significance 10
- c.-29G>A Single submitter hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
- p.Ala75Asp Single submitter ⚠
- p.Asn58His Single submitter ⚠
- p.His64Tyr Single submitter hereditary persistence of fetal hemoglobin ⚠
- p.His98Leu Single submitter ⚠
- p.Leu142Pro Single submitter ⚠
- p.Phe123Leu Single submitter ⚠
- p.Pro59Thr Single submitter ⚠
- p.Thr5Arg Single submitter hereditary persistence of fetal hemoglobin ⚠
- p.Val138Ala Single submitter ⚠