HSD17B7 — 53 ClinVar variants
All ClinVar germline HSD17B7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
4 Benign · 3 Likely benign · 46 Uncertain significance
Full HSD17B7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HSD17B7 p.Ala103Thr Uncertain significance Single submitter
- HSD17B7 p.Ala24Val Uncertain significance Single submitter
- HSD17B7 p.Arg151Gln Uncertain significance Single submitter
- HSD17B7 p.Arg72Trp Uncertain significance Single submitter
- HSD17B7 p.Asn229Ser Uncertain significance Single submitter
- HSD17B7 p.Asn255Asp Uncertain significance Single submitter
- HSD17B7 p.Asn255Lys Uncertain significance Single submitter
- HSD17B7 p.Asn280Ser Uncertain significance Single submitter
- HSD17B7 p.Asn295Ser Uncertain significance Single submitter
- HSD17B7 p.Asp161Glu Uncertain significance Single submitter
- HSD17B7 p.Cys45Ser Uncertain significance Single submitter
- HSD17B7 p.Gln314Arg Uncertain significance Single submitter
- HSD17B7 p.Glu140Ala Uncertain significance Single submitter
- HSD17B7 p.Glu28Lys Uncertain significance Single submitter
- HSD17B7 p.Gly127Arg Uncertain significance Single submitter
- HSD17B7 p.Gly338Ser Uncertain significance Single submitter
- HSD17B7 p.Gly9Ala Uncertain significance Single submitter
- HSD17B7 p.Gly9Val Uncertain significance Single submitter
- HSD17B7 p.His115Asn Uncertain significance Single submitter
- HSD17B7 p.His52Arg Uncertain significance Single submitter
- HSD17B7 p.Ile247Val Uncertain significance Single submitter
- HSD17B7 p.Ile59Met Uncertain significance Single submitter
- HSD17B7 p.Leu149Pro Uncertain significance Single submitter
- HSD17B7 p.Leu207Met Uncertain significance Single submitter
- HSD17B7 p.Leu23Pro Uncertain significance Single submitter
- HSD17B7 p.Lys20Asn Uncertain significance Single submitter
- HSD17B7 p.Lys75Arg Uncertain significance Single submitter
- HSD17B7 p.Lys78Arg Uncertain significance Single submitter
- HSD17B7 p.Phe312Leu Uncertain significance Single submitter
- HSD17B7 p.Ser11Gly Uncertain significance Single submitter
- HSD17B7 p.Ser337Arg Uncertain significance Single submitter
- HSD17B7 p.Thr119Ala Uncertain significance Single submitter
- HSD17B7 p.Thr241Ala Uncertain significance Single submitter
- HSD17B7 p.Thr241Met Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- HSD17B7 p.Ala17Val Uncertain significance Single submitter
- HSD17B7 p.Ala24Pro Uncertain significance Single submitter
- HSD17B7 p.Ala309Thr Uncertain significance Single submitter
- HSD17B7 p.Arg151Trp Uncertain significance Single submitter
- HSD17B7 p.Arg251His Uncertain significance Single submitter
- HSD17B7 p.Glu152Lys Uncertain significance Single submitter
- HSD17B7 p.Phe117Leu Uncertain significance Single submitter
- HSD17B7 p.Ser194Asn Uncertain significance Single submitter
All HSD17B7 variants
Benign 4
- p.Glu140= Multiple submitters
- p.Lys321Glu Multiple submitters
- c.748-5C>T Single submitter
- p.Ser11Thr Single submitter
Likely benign 3
- p.Asn263= Multiple submitters
- p.Asn219Ser Single submitter
- p.Ile87Val Single submitter
Uncertain significance 46
- p.Ala103Thr Single submitter ⚠
- p.Ala17Val Single submitter ⚠
- p.Ala24Pro Single submitter ⚠
- p.Ala24Val Single submitter ⚠
- p.Ala309Thr Single submitter ⚠
- p.Arg151Gln Single submitter ⚠
- p.Arg151Trp Single submitter ⚠
- p.Arg251His Single submitter ⚠
- p.Arg72Trp Single submitter ⚠
- p.Asn229Ser Single submitter ⚠
- p.Asn255Asp Single submitter ⚠
- p.Asn255Lys Single submitter ⚠
- p.Asn280Ser Single submitter ⚠
- p.Asn295Ser Single submitter ⚠
- p.Asp161Glu Single submitter ⚠
- p.Cys45Ser Single submitter ⚠
- p.Gln314Arg Single submitter ⚠
- p.Glu140Ala Single submitter ⚠
- p.Glu152Lys Single submitter ⚠
- p.Glu28Lys Single submitter ⚠
- p.Gly127Arg Single submitter ⚠
- p.Gly293Ala Single submitter
- p.Gly338Ser Single submitter ⚠
- p.Gly9Ala Single submitter ⚠
- p.Gly9Val Single submitter ⚠
- p.His115Asn Single submitter ⚠
- p.His52Arg Single submitter ⚠
- p.Ile247Val Single submitter ⚠
- p.Ile59Met Single submitter ⚠
- p.Leu149Pro Single submitter ⚠
- p.Leu207Met Single submitter ⚠
- p.Leu23Pro Single submitter ⚠
- p.Lys20Asn Single submitter ⚠
- p.Lys75Arg Single submitter ⚠
- p.Lys78Arg Single submitter ⚠
- p.Met94Val Single submitter
- p.Phe117Leu Single submitter ⚠
- p.Phe312Leu Single submitter ⚠
- p.Ser11Gly Single submitter ⚠
- p.Ser194Asn Single submitter ⚠
- p.Ser337Arg Single submitter ⚠
- p.Thr119Ala Single submitter ⚠
- p.Thr241Ala Single submitter ⚠
- p.Thr241Met Single submitter ⚠
- p.Thr8Ser Single submitter
- p.Val220Met Single submitter