HBZ — 16 ClinVar variants
All ClinVar germline HBZ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
1 Pathogenic · 1 Conflicting · 1 Likely benign · 13 Uncertain significance
Full HBZ gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HBZ p.Arg142Ser Uncertain significance Single submitter
- HBZ p.Glu139Gln Uncertain significance Single submitter
- HBZ p.Glu28Asp Uncertain significance Single submitter
- HBZ p.Gly26Ser Uncertain significance Single submitter
- HBZ p.Gly78Asp Uncertain significance Single submitter
- HBZ p.Leu81Pro Uncertain significance Single submitter
- HBZ p.Thr24Ile Uncertain significance Single submitter
- HBZ p.Tyr90Phe Uncertain significance Single submitter
- HBZ p.Val133Ile Uncertain significance Single submitter
- HBZ p.Val67Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All HBZ variants
Pathogenic 1
- c.330_*22601del No assertion criteria alpha thalassemia spectrum
Likely benign 1
- p.Ser103= Single submitter
Uncertain significance 13
- p.Arg142Ser Single submitter ⚠
- p.Glu139Gln Single submitter ⚠
- p.Glu28Asp Single submitter ⚠
- p.Gly26Ser Single submitter ⚠
- p.Gly78Asp Single submitter ⚠
- p.Gly79Asp Single submitter ⚠
- p.Leu81Pro Single submitter ⚠
- p.Thr20Met Single submitter ⚠
- p.Thr24Ile Single submitter ⚠
- p.Thr4Ala Single submitter ⚠
- p.Tyr90Phe Single submitter ⚠
- p.Val133Ile Single submitter ⚠
- p.Val67Met Single submitter ⚠