HSD17B13 — 46 ClinVar variants
All ClinVar germline HSD17B13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
7 Benign · 1 Likely benign · 38 Uncertain significance
Full HSD17B13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HSD17B13 p.Ala121Thr Uncertain significance Single submitter
- HSD17B13 p.Ala191Val Uncertain significance Single submitter
- HSD17B13 p.Ala205Thr Uncertain significance Single submitter
- HSD17B13 p.Ala78Val Uncertain significance Single submitter
- HSD17B13 p.Arg283Cys Uncertain significance Single submitter
- HSD17B13 p.Arg59Leu Uncertain significance Single submitter
- HSD17B13 p.Asn228Ser Uncertain significance Single submitter
- HSD17B13 p.Asn264Ser Uncertain significance Single submitter
- HSD17B13 p.Asp128Asn Uncertain significance Single submitter
- HSD17B13 p.Cys80Arg Uncertain significance Single submitter
- HSD17B13 p.Gln106Glu Uncertain significance Single submitter
- HSD17B13 p.Gln60Glu Uncertain significance Single submitter
- HSD17B13 p.Gly178Arg Uncertain significance Single submitter
- HSD17B13 p.Gly198Asp Uncertain significance Single submitter
- HSD17B13 p.Gly43Arg Uncertain significance Single submitter
- HSD17B13 p.Gly49Ser Uncertain significance Single submitter
- HSD17B13 p.Ile12Leu Uncertain significance Single submitter
- HSD17B13 p.Ile183Asn Uncertain significance Single submitter
- HSD17B13 p.Leu146Pro Uncertain significance Single submitter
- HSD17B13 p.Lys254Arg Uncertain significance Single submitter
- HSD17B13 p.Lys298Gln Uncertain significance Single submitter
- HSD17B13 p.Met159Thr Uncertain significance Single submitter
- HSD17B13 p.Pro180Leu Uncertain significance Single submitter
- HSD17B13 p.Ser21Leu Uncertain significance Single submitter
- HSD17B13 p.Ser33Phe Uncertain significance Single submitter
- HSD17B13 p.Ser95Gly Uncertain significance Single submitter
- HSD17B13 p.Val168Ile Uncertain significance Single submitter
- HSD17B13 p.Val221Gly Uncertain significance Single submitter
- HSD17B13 p.Val292Met Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- HSD17B13 p.Pro260Gln Benign Multiple submitters
- HSD17B13 p.Pro260Ser Benign Multiple submitters
- HSD17B13 p.Gln288Leu Uncertain significance Single submitter
- HSD17B13 p.Leu104Pro Uncertain significance Single submitter
- HSD17B13 p.Leu233Ser Uncertain significance Single submitter
- HSD17B13 p.Lys24Glu Uncertain significance Single submitter
- HSD17B13 p.Tyr16Asn Uncertain significance Single submitter
- HSD17B13 p.Tyr16Cys Uncertain significance Single submitter
All HSD17B13 variants
Benign 7
- c.451-8T>G Multiple submitters
- p.Ala279Val Multiple submitters
- p.Pro260Gln Multiple submitters ⚠
- p.Pro260Ser Multiple submitters ⚠
- p.Thr239Ile Multiple submitters
- c.812+2dup Single submitter
- p.Ile167= Single submitter
Likely benign 1
- p.Gln270Lys Single submitter
Uncertain significance 38
- p.Ala121Thr Single submitter ⚠
- p.Ala191Val Single submitter ⚠
- p.Ala205Thr Single submitter ⚠
- p.Ala78Val Single submitter ⚠
- p.Arg276Ser Single submitter
- p.Arg283Cys Single submitter ⚠
- p.Arg59Leu Single submitter ⚠
- p.Asn228Ser Single submitter ⚠
- p.Asn264Ser Single submitter ⚠
- p.Asp128Asn Single submitter ⚠
- p.Cys186Gly Single submitter
- p.Cys80Arg Single submitter ⚠
- p.Gln106Glu Single submitter ⚠
- p.Gln288Leu Single submitter ⚠
- p.Gln60Glu Single submitter ⚠
- p.Gly178Arg Single submitter ⚠
- p.Gly198Asp Single submitter ⚠
- p.Gly43Arg Single submitter ⚠
- p.Gly49Ser Single submitter ⚠
- p.Ile12Leu Single submitter ⚠
- p.Ile183Asn Single submitter ⚠
- p.Leu104Pro Single submitter ⚠
- p.Leu146Pro Single submitter ⚠
- p.Leu233Ser Single submitter ⚠
- p.Lys24Glu Single submitter ⚠
- p.Lys254Arg Single submitter ⚠
- p.Lys298Gln Single submitter ⚠
- p.Met159Thr Single submitter ⚠
- p.Pro180Leu Single submitter ⚠
- p.Ser21Leu Single submitter ⚠
- p.Ser33Phe Single submitter ⚠
- p.Ser95Gly Single submitter ⚠
- p.Tyr16Asn Single submitter ⚠
- p.Tyr16Cys Single submitter ⚠
- p.Val117Met Single submitter
- p.Val168Ile Single submitter ⚠
- p.Val221Gly Single submitter ⚠
- p.Val292Met Single submitter ⚠