HSD3B1 — 70 ClinVar variants
All ClinVar germline HSD3B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
1 Benign · 10 Likely benign · 59 Uncertain significance
Full HSD3B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HSD3B1 p.Ala246Ser Uncertain significance Single submitter
- HSD3B1 p.Ala246Val Uncertain significance Single submitter
- HSD3B1 p.Ala83Thr Uncertain significance Single submitter
- HSD3B1 p.Arg21His Uncertain significance Single submitter
- HSD3B1 p.Asn140Asp Uncertain significance Single submitter
- HSD3B1 p.Asn140Lys Uncertain significance Single submitter
- HSD3B1 p.Asn222Ser Uncertain significance Single submitter
- HSD3B1 p.Glu95Gln Uncertain significance Single submitter
- HSD3B1 p.Gly13Val Uncertain significance Single submitter
- HSD3B1 p.Gly178Ser Uncertain significance Single submitter
- HSD3B1 p.His262Tyr Uncertain significance Single submitter
- HSD3B1 p.His93Gln Uncertain significance Single submitter
- HSD3B1 p.Ile126Thr Uncertain significance Single submitter
- HSD3B1 p.Leu185Ser Uncertain significance Single submitter
- HSD3B1 p.Leu240Gln Uncertain significance Single submitter
- HSD3B1 p.Leu288Phe Uncertain significance Single submitter
- HSD3B1 p.Leu304Pro Uncertain significance Single submitter
- HSD3B1 p.Leu7Pro Uncertain significance Single submitter
- HSD3B1 p.Lys244Arg Uncertain significance Single submitter
- HSD3B1 p.Lys70Asn Uncertain significance Single submitter
- HSD3B1 p.Phe120Ser Uncertain significance Single submitter
- HSD3B1 p.Phe218Ile Uncertain significance Single submitter
- HSD3B1 p.Pro118Ser Uncertain significance Single submitter
- HSD3B1 p.Pro146Ser Uncertain significance Single submitter
- HSD3B1 p.Pro187Ser Uncertain significance Single submitter
- HSD3B1 p.Ser199Cys Uncertain significance Single submitter
- HSD3B1 p.Ser248Gly Uncertain significance Single submitter
- HSD3B1 p.Ser264Asn Uncertain significance Single submitter
- HSD3B1 p.Ser285Arg Uncertain significance Single submitter
- HSD3B1 p.Ser285Asn Uncertain significance Single submitter
- HSD3B1 p.Thr9Arg Uncertain significance Single submitter
- HSD3B1 p.Trp293Leu Uncertain significance Single submitter
- HSD3B1 p.Tyr225Cys Uncertain significance Single submitter
- HSD3B1 p.Val128Ile Uncertain significance Single submitter
- HSD3B1 p.Val24Ala Uncertain significance Single submitter
- HSD3B1 p.Val326Ile Uncertain significance Single submitter
- HSD3B1 p.Val78Phe Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- HSD3B1 p.Ala168Val Uncertain significance Single submitter
- HSD3B1 p.Arg21Cys Uncertain significance Single submitter
- HSD3B1 p.Arg279Cys Likely benign Single submitter
- HSD3B1 p.Arg317Cys Uncertain significance Single submitter
- HSD3B1 p.Arg317Ser Uncertain significance Single submitter
- HSD3B1 p.Arg363Trp Uncertain significance Single submitter
- HSD3B1 p.Asp65Asn Uncertain significance Single submitter
- HSD3B1 p.Cys112Ser Uncertain significance Single submitter
- HSD3B1 p.Glu347Gly Uncertain significance Single submitter
- HSD3B1 p.Glu348Gly Uncertain significance Single submitter
- HSD3B1 p.Glu46Lys Uncertain significance Single submitter
- HSD3B1 p.Gly130Arg Uncertain significance Single submitter
- HSD3B1 p.Gly177Ser Uncertain significance Single submitter
- HSD3B1 p.Gly277Cys Uncertain significance Single submitter
- HSD3B1 p.Gly61Arg Uncertain significance Single submitter
- HSD3B1 p.Lys371Asn Uncertain significance Single submitter
- HSD3B1 p.Lys37Asn Uncertain significance Single submitter
- HSD3B1 p.Phe89Leu Likely benign Single submitter
- HSD3B1 p.Ser330Cys Uncertain significance Single submitter
- HSD3B1 p.Thr260Met Uncertain significance Single submitter
- HSD3B1 p.Val102Met Uncertain significance Single submitter
- HSD3B1 p.Val166Ile Uncertain significance Single submitter
All HSD3B1 variants
Benign 1
- p.Ile79Val Multiple submitters
Likely benign 10
- p.Arg250Gln Single submitter
- p.Arg279Cys Single submitter ⚠
- p.Arg312Gln Single submitter
- p.Arg71Ile Single submitter
- p.Gly295Ala Single submitter
- p.Lys135Arg Single submitter
- p.Met188Thr Single submitter
- p.Phe89Leu Single submitter ⚠
- p.Val354Met Single submitter
- p.Val76Ile Single submitter
Uncertain significance 59
- p.Ala168Val Single submitter ⚠
- p.Ala246Ser Single submitter ⚠
- p.Ala246Val Single submitter ⚠
- p.Ala83Thr Single submitter ⚠
- p.Arg21Cys Single submitter ⚠
- p.Arg21His Single submitter ⚠
- p.Arg317Cys Single submitter ⚠
- p.Arg317Ser Single submitter ⚠
- p.Arg33Thr Single submitter
- p.Arg363Trp Single submitter ⚠
- p.Asn140Asp Single submitter ⚠
- p.Asn140Lys Single submitter ⚠
- p.Asn222Ser Single submitter ⚠
- p.Asp65Asn Single submitter ⚠
- p.Cys112Ser Single submitter ⚠
- p.Glu347Gly Single submitter ⚠
- p.Glu348Gly Single submitter ⚠
- p.Glu46Lys Single submitter ⚠
- p.Glu95Gln Single submitter ⚠
- p.Gly130Arg Single submitter ⚠
- p.Gly13Val Single submitter ⚠
- p.Gly177Ser Single submitter ⚠
- p.Gly178Ser Single submitter ⚠
- p.Gly277Cys Single submitter ⚠
- p.Gly61Arg Single submitter ⚠
- p.His262Tyr Single submitter ⚠
- p.His93Gln Single submitter ⚠
- p.Ile126Thr Single submitter ⚠
- p.Leu185Ser Single submitter ⚠
- p.Leu240Gln Single submitter ⚠
- p.Leu288Phe Single submitter ⚠
- p.Leu304Pro Single submitter ⚠
- p.Leu7Pro Single submitter ⚠
- p.Lys244Arg Single submitter ⚠
- p.Lys274Asn Single submitter
- p.Lys371Asn Single submitter ⚠
- p.Lys37Asn Single submitter ⚠
- p.Lys70Asn Single submitter ⚠
- p.Phe120Ser Single submitter ⚠
- p.Phe218Ile Single submitter ⚠
- p.Pro118Ser Single submitter ⚠
- p.Pro146Ser Single submitter ⚠
- p.Pro187Ser Single submitter ⚠
- p.Ser199Cys Single submitter ⚠
- p.Ser248Gly Single submitter ⚠
- p.Ser264Asn Single submitter ⚠
- p.Ser285Arg Single submitter ⚠
- p.Ser285Asn Single submitter ⚠
- p.Ser330Cys Single submitter ⚠
- p.Thr260Met Single submitter ⚠
- p.Thr9Arg Single submitter ⚠
- p.Trp293Leu Single submitter ⚠
- p.Tyr225Cys Single submitter ⚠
- p.Val102Met Single submitter ⚠
- p.Val128Ile Single submitter ⚠
- p.Val166Ile Single submitter ⚠
- p.Val24Ala Single submitter ⚠
- p.Val326Ile Single submitter ⚠
- p.Val78Phe Single submitter ⚠