HRH2 — 18 ClinVar variants
All ClinVar germline HRH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
2 Likely benign · 16 Uncertain significance
Full HRH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HRH2 p.Ala34Gly Uncertain significance Single submitter
- HRH2 p.Arg116Gln Uncertain significance Single submitter
- HRH2 p.Arg310Cys Uncertain significance Single submitter
- HRH2 p.Asn108Ser Uncertain significance Single submitter
- HRH2 p.His313Gln Uncertain significance Single submitter
- HRH2 p.Ile227Val Uncertain significance Single submitter
- HRH2 p.Ile31Phe Uncertain significance Single submitter
- HRH2 p.Leu317Pro Uncertain significance Single submitter
- HRH2 p.Leu45Phe Uncertain significance Single submitter
- HRH2 p.Lys341Asn Uncertain significance Single submitter
- HRH2 p.Phe206Ser Uncertain significance Single submitter
- HRH2 p.Pro332Ala Uncertain significance Single submitter
- HRH2 p.Ser172Phe Uncertain significance Single submitter
- HRH2 p.Ser346Gly Uncertain significance Single submitter
- HRH2 p.Thr170Asn Uncertain significance Single submitter
-
HRH2 p.Lys83Arg
Uncertain significance
No assertion criteria
myoepithelial tumor
All HRH2 variants
Likely benign 2
- p.Asn309Ser Single submitter
- p.Ile137Val Single submitter
Uncertain significance 16
- p.Ala34Gly Single submitter ⚠
- p.Arg116Gln Single submitter ⚠
- p.Arg310Cys Single submitter ⚠
- p.Asn108Ser Single submitter ⚠
- p.His313Gln Single submitter ⚠
- p.Ile227Val Single submitter ⚠
- p.Ile31Phe Single submitter ⚠
- p.Leu317Pro Single submitter ⚠
- p.Leu45Phe Single submitter ⚠
- p.Lys341Asn Single submitter ⚠
- p.Phe206Ser Single submitter ⚠
- p.Pro332Ala Single submitter ⚠
- p.Ser172Phe Single submitter ⚠
- p.Ser346Gly Single submitter ⚠
- p.Thr170Asn Single submitter ⚠
- p.Lys83Arg No assertion criteria myoepithelial tumor ⚠