HBG2 — 30 ClinVar variants
All ClinVar germline HBG2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
3 Pathogenic · 3 Likely pathogenic · 1 Conflicting · 1 Benign · 7 Likely benign · 15 Uncertain significance
Full HBG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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.
-
HBG2 p.Leu29Gln
Conflicting
Single submitter
cyanosis, transient neonatal
Predictors lean, ClinVar uncertain 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HBG2 p.Ala141Asp Uncertain significance Single submitter
- HBG2 p.Arg41Ser Uncertain significance Single submitter
- HBG2 p.Glu126Asp Uncertain significance Single submitter
- HBG2 p.Gly25Glu Uncertain significance Single submitter
- HBG2 p.Lys133Gln Uncertain significance Single submitter
- HBG2 p.Lys133Thr Uncertain significance Single submitter
-
HBG2 p.Phe42Ser
Uncertain significance
Single submitter
cyanosis, transient neonatal
- HBG2 p.Tyr36Cys Uncertain significance Single submitter
- HBG2 p.Val138Met Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- HBG2 p.Ala63Thr Uncertain significance Single submitter
- HBG2 p.Gly120Arg Uncertain significance Single submitter
- HBG2 p.Gly120Ser Uncertain significance Single submitter
- HBG2 p.Gly17Arg Likely benign Single submitter
- HBG2 p.His78Tyr Uncertain significance Single submitter
- HBG2 p.Lys60Glu Likely benign Single submitter
- HBG2 p.Ser45Asn Uncertain significance Single submitter
- HBG2 p.Val35Ala Uncertain significance Single submitter
All HBG2 variants
Pathogenic 3
- p.His93Tyr Single submitter cyanosis, transient neonatal
- p.Leu29Met Single submitter cyanosis, transient neonatal
- p.His64Leu No assertion criteria cyanosis, transient neonatal
Likely pathogenic 3
- p.His64Tyr Multiple submitters cyanosis, transient neonatal
- p.51SA[3] Single submitter
- p.Val68Met Single submitter cyanosis, transient neonatal
Conflicting classifications of pathogenicity 1
- p.Leu29Gln Single submitter cyanosis, transient neonatal ⚠
Benign 1
- p.Val21Ala Single submitter
Likely benign 7
- c.315+16G>A Single submitter
- p.Arg41Lys Single submitter
- p.Gly17Arg Single submitter ⚠
- p.Lys60Glu Single submitter ⚠
- p.Lys67Gln Single submitter
- p.Ser143= Single submitter
- p.Ser45Arg Single submitter
Uncertain significance 15
- p.Ala141Asp Single submitter ⚠
- p.Ala63Thr Single submitter ⚠
- p.Arg41Ser Single submitter ⚠
- p.Glu126Asp Single submitter ⚠
- p.Gly120Arg Single submitter ⚠
- p.Gly120Ser Single submitter ⚠
- p.Gly25Glu Single submitter ⚠
- p.His78Tyr Single submitter ⚠
- p.Lys133Gln Single submitter ⚠
- p.Lys133Thr Single submitter ⚠
- p.Phe42Ser Single submitter cyanosis, transient neonatal ⚠
- p.Ser45Asn Single submitter ⚠
- p.Tyr36Cys Single submitter ⚠
- p.Val138Met Single submitter ⚠
- p.Val35Ala Single submitter ⚠