PHB2 — 28 ClinVar variants
All ClinVar germline PHB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
3 Benign · 25 Uncertain significance
Full PHB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PHB2 p.Ala22Val Uncertain significance Single submitter
- PHB2 p.Ala33Val Uncertain significance Single submitter
- PHB2 p.Arg123His Uncertain significance Single submitter
- PHB2 p.Arg191Gln Uncertain significance Single submitter
- PHB2 p.Arg222Gln Uncertain significance Single submitter
- PHB2 p.Asn113Ser Uncertain significance Single submitter
- PHB2 p.Gln122Arg Uncertain significance Single submitter
- PHB2 p.Gln60Arg Uncertain significance Single submitter
- PHB2 p.Glu233Lys Uncertain significance Single submitter
- PHB2 p.Glu38Asp Uncertain significance Single submitter
- PHB2 p.Leu179Val Uncertain significance Single submitter
- PHB2 p.Met19Ile Uncertain significance Single submitter
- PHB2 p.Pro134Leu Uncertain significance Single submitter
- PHB2 p.Pro16Arg Uncertain significance Single submitter
- PHB2 p.Pro73Leu Uncertain significance Single submitter
- PHB2 p.Ser39Pro Uncertain significance Single submitter
- PHB2 p.Thr263Met Uncertain significance Single submitter
- PHB2 p.Thr274Lys Uncertain significance Single submitter
- PHB2 p.Tyr128His Uncertain significance Single submitter
- PHB2 p.Tyr77Cys Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All PHB2 variants
Benign 3
- p.Ser293= Multiple submitters
- p.Thr274= Multiple submitters
- c.873-3_873-2del Single submitter
Uncertain significance 25
- p.Ala22Val Single submitter ⚠
- p.Ala33Val Single submitter ⚠
- p.Arg123Cys Single submitter ⚠
- p.Arg123His Single submitter ⚠
- p.Arg191Gln Single submitter ⚠
- p.Arg209Gln Single submitter ⚠
- p.Arg222Gln Single submitter ⚠
- p.Asn113Ser Single submitter ⚠
- p.Gln122Arg Single submitter ⚠
- p.Gln60Arg Single submitter ⚠
- p.Glu229Lys Single submitter
- p.Glu233Lys Single submitter ⚠
- p.Glu38Asp Single submitter ⚠
- p.Ile225Thr Single submitter ⚠
- p.Leu179Val Single submitter ⚠
- p.Met19Ile Single submitter ⚠
- p.Pro134Leu Single submitter ⚠
- p.Pro16Arg Single submitter ⚠
- p.Pro73Leu Single submitter ⚠
- p.Ser39Pro Single submitter ⚠
- p.Thr263Met Single submitter ⚠
- p.Thr274Lys Single submitter ⚠
- p.Tyr128His Single submitter ⚠
- p.Tyr272Cys Single submitter
- p.Tyr77Cys Single submitter ⚠