HSD17B11 — 31 ClinVar variants
All ClinVar germline HSD17B11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
4 Likely benign · 27 Uncertain significance
Full HSD17B11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HSD17B11 p.Ala205Thr Uncertain significance Single submitter
- HSD17B11 p.Ala279Thr Uncertain significance Single submitter
- HSD17B11 p.Ala299Val Uncertain significance Single submitter
- HSD17B11 p.Ala78Val Uncertain significance Single submitter
- HSD17B11 p.Arg276His Uncertain significance Single submitter
- HSD17B11 p.Asn163Asp Uncertain significance Single submitter
- HSD17B11 p.Asp134Tyr Uncertain significance Single submitter
- HSD17B11 p.Gly122Asp Uncertain significance Single submitter
- HSD17B11 p.Ile15Thr Uncertain significance Single submitter
- HSD17B11 p.Ile167Thr Uncertain significance Single submitter
- HSD17B11 p.Ile263Val Uncertain significance Single submitter
- HSD17B11 p.Leu14Val Uncertain significance Single submitter
- HSD17B11 p.Lys62Arg Uncertain significance Single submitter
- HSD17B11 p.Lys62Thr Uncertain significance Single submitter
- HSD17B11 p.Lys81Gln Uncertain significance Single submitter
- HSD17B11 p.Lys81Glu Uncertain significance Single submitter
- HSD17B11 p.Pro274Leu Uncertain significance Single submitter
- HSD17B11 p.Ser178Leu Uncertain significance Single submitter
- HSD17B11 p.Ser18Tyr Uncertain significance Single submitter
- HSD17B11 p.Ser61Ile Uncertain significance Single submitter
- HSD17B11 p.Thr126Ala Uncertain significance Single submitter
- HSD17B11 p.Tyr295His Uncertain significance Single submitter
- HSD17B11 p.Tyr54Asn Uncertain significance Single submitter
- HSD17B11 p.Val145Gly Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All HSD17B11 variants
Likely benign 4
- p.Leu4Phe Single submitter
- p.Ser178= Single submitter
- p.Thr213= Single submitter
- p.Val221Ile Single submitter
Uncertain significance 27
- p.Ala205Thr Single submitter ⚠
- p.Ala279Thr Single submitter ⚠
- p.Ala299Val Single submitter ⚠
- p.Ala78Val Single submitter ⚠
- p.Arg276His Single submitter ⚠
- p.Asn163Asp Single submitter ⚠
- p.Asp134Tyr Single submitter ⚠
- p.Glu75Val Single submitter ⚠
- p.Gly122Asp Single submitter ⚠
- p.Ile15Thr Single submitter ⚠
- p.Ile167Thr Single submitter ⚠
- p.Ile263Val Single submitter ⚠
- p.Leu14Val Single submitter ⚠
- p.Lys62Arg Single submitter ⚠
- p.Lys62Thr Single submitter ⚠
- p.Lys81Gln Single submitter ⚠
- p.Lys81Glu Single submitter ⚠
- p.Pro239Thr Single submitter ⚠
- p.Pro274Leu Single submitter ⚠
- p.Ser178Leu Single submitter ⚠
- p.Ser18Tyr Single submitter ⚠
- p.Ser61Ile Single submitter ⚠
- p.Thr126Ala Single submitter ⚠
- p.Thr52Ile Single submitter
- p.Tyr295His Single submitter ⚠
- p.Tyr54Asn Single submitter ⚠
- p.Val145Gly Single submitter ⚠