HSD17B2 — 86 ClinVar variants
All ClinVar germline HSD17B2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →
7 Benign · 9 Likely benign · 70 Uncertain significance
Full HSD17B2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 63
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 52
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HSD17B2 p.Ala270Thr Uncertain significance Single submitter
- HSD17B2 p.Ala289Ser Uncertain significance Single submitter
- HSD17B2 p.Ala289Thr Uncertain significance Single submitter
- HSD17B2 p.Ala331Thr Uncertain significance Single submitter
- HSD17B2 p.Ala344Thr Uncertain significance Single submitter
- HSD17B2 p.Arg131His Uncertain significance Single submitter
- HSD17B2 p.Asp147Ala Uncertain significance Single submitter
- HSD17B2 p.Asp298Gly Uncertain significance Single submitter
- HSD17B2 p.Asp7Asn Uncertain significance Single submitter
- HSD17B2 p.Gln292Glu Uncertain significance Single submitter
- HSD17B2 p.Gln297His Uncertain significance Single submitter
- HSD17B2 p.Gln297Pro Uncertain significance Single submitter
- HSD17B2 p.Gly112Arg Uncertain significance Single submitter
- HSD17B2 p.Gly223Arg Uncertain significance Single submitter
- HSD17B2 p.Gly264Cys Uncertain significance Single submitter
- HSD17B2 p.Gly368Ser Uncertain significance Single submitter
- HSD17B2 p.Leu102Pro Uncertain significance Single submitter
- HSD17B2 p.Leu105Pro Uncertain significance Single submitter
- HSD17B2 p.Leu132Ile Uncertain significance Single submitter
- HSD17B2 p.Leu179Phe Uncertain significance Single submitter
- HSD17B2 p.Leu266Val Uncertain significance Single submitter
- HSD17B2 p.Leu284Val Uncertain significance Single submitter
- HSD17B2 p.Leu60Phe Uncertain significance Single submitter
- HSD17B2 p.Leu86Val Uncertain significance Single submitter
- HSD17B2 p.Lys100Gln Uncertain significance Single submitter
- HSD17B2 p.Lys316Asn Uncertain significance Single submitter
- HSD17B2 p.Lys383Gln Uncertain significance Single submitter
- HSD17B2 p.Met155Ile Uncertain significance Single submitter
- HSD17B2 p.Met155Val Uncertain significance Single submitter
- HSD17B2 p.Met373Ile Uncertain significance Single submitter
- HSD17B2 p.Pro130Leu Uncertain significance Single submitter
- HSD17B2 p.Pro262Arg Uncertain significance Single submitter
- HSD17B2 p.Pro262Leu Uncertain significance Single submitter
- HSD17B2 p.Pro320Ala Uncertain significance Single submitter
- HSD17B2 p.Pro320Leu Uncertain significance Single submitter
- HSD17B2 p.Pro54Ser Uncertain significance Single submitter
- HSD17B2 p.Ser218Arg Uncertain significance Single submitter
- HSD17B2 p.Ser231Tyr Uncertain significance Single submitter
- HSD17B2 p.Ser333Thr Uncertain significance Single submitter
- HSD17B2 p.Thr108Arg Uncertain significance Single submitter
- HSD17B2 p.Thr108Met Uncertain significance Single submitter
- HSD17B2 p.Thr175Asn Uncertain significance Single submitter
- HSD17B2 p.Thr17Ile Uncertain significance Single submitter
- HSD17B2 p.Trp10Ser Uncertain significance Single submitter
- HSD17B2 p.Trp162Ser Uncertain significance Single submitter
- HSD17B2 p.Trp253Cys Uncertain significance Single submitter
- HSD17B2 p.Trp56Cys Uncertain significance Single submitter
- HSD17B2 p.Tyr337His Uncertain significance Single submitter
- HSD17B2 p.Val134Gly Uncertain significance Single submitter
- HSD17B2 p.Val199Ala Uncertain significance Single submitter
- HSD17B2 p.Val245Asp Uncertain significance Single submitter
- HSD17B2 p.Val39Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- HSD17B2 p.Ala121Thr Benign Multiple submitters
- HSD17B2 p.Ala331Val Likely benign Multiple submitters
- HSD17B2 p.Ala331Glu Uncertain significance Single submitter
- HSD17B2 p.Ala351Asp Uncertain significance Single submitter
- HSD17B2 p.Arg323Trp Uncertain significance Single submitter
- HSD17B2 p.Asp294Tyr Uncertain significance Single submitter
- HSD17B2 p.Pro334Arg Uncertain significance Single submitter
- HSD17B2 p.Ser312Leu Uncertain significance Single submitter
- HSD17B2 p.Thr140Met Uncertain significance Single submitter
- HSD17B2 p.Thr200Ile Uncertain significance Single submitter
- HSD17B2 p.Trp347Cys Uncertain significance Single submitter
All HSD17B2 variants
Benign 7
- p.Ala121Thr Multiple submitters ⚠
- p.Met226Val Multiple submitters
- p.Thr240Ser Multiple submitters
- p.Glu178= Single submitter
- p.Leu309= Single submitter
- p.Pro130= Single submitter
- p.Ser312= Single submitter
Likely benign 9
- p.Ala331Val Multiple submitters ⚠
- p.Ala224Val Single submitter
- p.Ala314Ser Single submitter
- p.Ala9Thr Single submitter
- p.Cys92= Single submitter
- p.Ile165Val Single submitter
- p.Leu156Val Single submitter
- p.Ser36Arg Single submitter
- p.Thr175Ser Single submitter
Uncertain significance 70
- p.Ala230Thr Single submitter
- p.Ala270Thr Single submitter ⚠
- p.Ala289Ser Single submitter ⚠
- p.Ala289Thr Single submitter ⚠
- p.Ala328Thr Single submitter
- p.Ala331Glu Single submitter ⚠
- p.Ala331Thr Single submitter ⚠
- p.Ala344Thr Single submitter ⚠
- p.Ala351Asp Single submitter ⚠
- p.Arg131His Single submitter ⚠
- p.Arg323Trp Single submitter ⚠
- p.Asp147Ala Single submitter ⚠
- p.Asp294Tyr Single submitter ⚠
- p.Asp298Gly Single submitter ⚠
- p.Asp7Asn Single submitter ⚠
- p.Gln292Glu Single submitter ⚠
- p.Gln297His Single submitter ⚠
- p.Gln297Pro Single submitter ⚠
- p.Gly112Arg Single submitter ⚠
- p.Gly223Arg Single submitter ⚠
- p.Gly264Cys Single submitter ⚠
- p.Gly296Ser Single submitter
- p.Gly368Ser Single submitter ⚠
- p.Ile283Asn Single submitter
- p.Leu102Pro Single submitter ⚠
- p.Leu105Pro Single submitter ⚠
- p.Leu132Ile Single submitter ⚠
- p.Leu179Phe Single submitter ⚠
- p.Leu204Phe Single submitter
- p.Leu266Val Single submitter ⚠
- p.Leu284Val Single submitter ⚠
- p.Leu60Phe Single submitter ⚠
- p.Leu86Val Single submitter ⚠
- p.Lys100Gln Single submitter ⚠
- p.Lys151Asn Single submitter
- p.Lys316Asn Single submitter ⚠
- p.Lys383Gln Single submitter ⚠
- p.Met155Ile Single submitter ⚠
- p.Met155Val Single submitter ⚠
- p.Met373Ile Single submitter ⚠
- p.Phe4Leu Single submitter
- p.Pro130Leu Single submitter ⚠
- p.Pro174Leu Single submitter
- p.Pro205Ser Single submitter
- p.Pro262Arg Single submitter ⚠
- p.Pro262Leu Single submitter ⚠
- p.Pro320Ala Single submitter ⚠
- p.Pro320Leu Single submitter ⚠
- p.Pro334Arg Single submitter ⚠
- p.Pro54Ser Single submitter ⚠
- p.Ser218Arg Single submitter ⚠
- p.Ser231Tyr Single submitter ⚠
- p.Ser312Leu Single submitter ⚠
- p.Ser333Thr Single submitter ⚠
- p.Thr108Arg Single submitter ⚠
- p.Thr108Met Single submitter ⚠
- p.Thr140Met Single submitter ⚠
- p.Thr175Asn Single submitter ⚠
- p.Thr17Ile Single submitter ⚠
- p.Thr200Ile Single submitter ⚠
- p.Trp10Ser Single submitter ⚠
- p.Trp162Ser Single submitter ⚠
- p.Trp253Cys Single submitter ⚠
- p.Trp347Cys Single submitter ⚠
- p.Trp56Cys Single submitter ⚠
- p.Tyr337His Single submitter ⚠
- p.Val134Gly Single submitter ⚠
- p.Val199Ala Single submitter ⚠
- p.Val245Asp Single submitter ⚠
- p.Val39Ile Single submitter ⚠