HRH1 — 37 ClinVar variants
All ClinVar germline HRH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
4 Benign · 3 Likely benign · 30 Uncertain significance
Full HRH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HRH1 p.Arg127His Uncertain significance Single submitter
- HRH1 p.Arg224Trp Uncertain significance Single submitter
- HRH1 p.Arg409Cys Uncertain significance Single submitter
- HRH1 p.Arg53Leu Uncertain significance Single submitter
- HRH1 p.Asn166Asp Uncertain significance Single submitter
- HRH1 p.Asn446Ser Uncertain significance Single submitter
- HRH1 p.Asp334Gly Uncertain significance Single submitter
- HRH1 p.Gln356Arg Uncertain significance Single submitter
- HRH1 p.Gly246Glu Uncertain significance Single submitter
- HRH1 p.Gly457Asp Uncertain significance Single submitter
- HRH1 p.His328Arg Uncertain significance Single submitter
- HRH1 p.His397Arg Uncertain significance Single submitter
- HRH1 p.Ile307Thr Uncertain significance Single submitter
- HRH1 p.Ile66Val Uncertain significance Single submitter
- HRH1 p.Leu136Phe Uncertain significance Single submitter
- HRH1 p.Leu74Ser Uncertain significance Single submitter
- HRH1 p.Lys137Asn Uncertain significance Single submitter
- HRH1 p.Lys238Arg Uncertain significance Single submitter
- HRH1 p.Lys299Arg Uncertain significance Single submitter
- HRH1 p.Met22Thr Uncertain significance Single submitter
- HRH1 p.Met351Leu Uncertain significance Single submitter
- HRH1 p.Phe303Leu Uncertain significance Single submitter
- HRH1 p.Ser230Cys Uncertain significance Single submitter
- HRH1 p.Ser24Thr Uncertain significance Single submitter
- HRH1 p.Tyr210Cys Uncertain significance Single submitter
- HRH1 p.Val52Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All HRH1 variants
Benign 4
- p.Arg326Gln Multiple submitters
- p.Lys19Asn Multiple submitters
- p.Met14Ile Multiple submitters
- p.Asp349His Single submitter
Likely benign 3
- p.Ala72= Single submitter
- p.Met90Thr Single submitter
- p.Pro371Ser Single submitter
Uncertain significance 30
- p.Ala72Thr Single submitter ⚠
- p.Arg127His Single submitter ⚠
- p.Arg224Trp Single submitter ⚠
- p.Arg409Cys Single submitter ⚠
- p.Arg53Leu Single submitter ⚠
- p.Asn166Asp Single submitter ⚠
- p.Asn446Ser Single submitter ⚠
- p.Asp334Gly Single submitter ⚠
- p.Gln356Arg Single submitter ⚠
- p.Glu55Lys Single submitter
- p.Gly246Glu Single submitter ⚠
- p.Gly457Asp Single submitter ⚠
- p.His328Arg Single submitter ⚠
- p.His397Arg Single submitter ⚠
- p.Ile307Thr Single submitter ⚠
- p.Ile66Val Single submitter ⚠
- p.Leu136Phe Single submitter ⚠
- p.Leu74Ser Single submitter ⚠
- p.Lys137Asn Single submitter ⚠
- p.Lys238Arg Single submitter ⚠
- p.Lys299Arg Single submitter ⚠
- p.Met22Thr Single submitter ⚠
- p.Met351Leu Single submitter ⚠
- p.Met81Thr Single submitter ⚠
- p.Phe303Leu Single submitter ⚠
- p.Ser230Cys Single submitter ⚠
- p.Ser24Thr Single submitter ⚠
- p.Thr194Ser Single submitter
- p.Tyr210Cys Single submitter ⚠
- p.Val52Ile Single submitter ⚠