HMGB2 — 10 ClinVar variants
All ClinVar germline HMGB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
10 Uncertain significance
Full HMGB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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 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.
- HMGB2 p.Asp189Glu Uncertain significance Single submitter
- HMGB2 p.Asp72Glu Uncertain significance Single submitter
- HMGB2 p.Glu186Lys Uncertain significance Single submitter
- HMGB2 p.Glu197Asp Uncertain significance Single submitter
- HMGB2 p.Lys165Glu Uncertain significance Single submitter
- HMGB2 p.Ser115Asn Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All HMGB2 variants
Uncertain significance 10
- p.Asp189Glu Single submitter ⚠
- p.Asp72Glu Single submitter ⚠
- p.Glu116Gly Single submitter ⚠
- p.Glu186Lys Single submitter ⚠
- p.Glu197Asp Single submitter ⚠
- p.Glu201Lys Single submitter
- p.Glu56Asp Single submitter ⚠
- p.Lys165Glu Single submitter ⚠
- p.Ser115Asn Single submitter ⚠
- p.Thr125Ala Single submitter