HSD17B12 — 46 ClinVar variants
All ClinVar germline HSD17B12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
2 Likely benign · 44 Uncertain significance
Full HSD17B12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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.
- HSD17B12 p.Ala110Ser Uncertain significance Single submitter
- HSD17B12 p.Ala123Val Uncertain significance Single submitter
- HSD17B12 p.Arg179Ser Uncertain significance Single submitter
- HSD17B12 p.Arg243Gln Uncertain significance Single submitter
- HSD17B12 p.Arg268Gln Uncertain significance Single submitter
- HSD17B12 p.Asn133Lys Uncertain significance Single submitter
- HSD17B12 p.Asn152Ser Uncertain significance Single submitter
- HSD17B12 p.Asn298Thr Uncertain significance Single submitter
- HSD17B12 p.Gln214Leu Uncertain significance Single submitter
- HSD17B12 p.Gln89His Uncertain significance Single submitter
- HSD17B12 p.Gly121Asp Uncertain significance Single submitter
- HSD17B12 p.His217Arg Uncertain significance Single submitter
- HSD17B12 p.His217Gln Uncertain significance Single submitter
- HSD17B12 p.Ile187Phe Uncertain significance Single submitter
- HSD17B12 p.Ile282Asn Uncertain significance Single submitter
- HSD17B12 p.Leu198His Uncertain significance Single submitter
- HSD17B12 p.Lys311Met Uncertain significance Single submitter
- HSD17B12 p.Phe109Leu Uncertain significance Single submitter
- HSD17B12 p.Pro195Arg Uncertain significance Single submitter
- HSD17B12 p.Pro232Thr Uncertain significance Single submitter
- HSD17B12 p.Pro245Ser Uncertain significance Single submitter
- HSD17B12 p.Pro252Leu Uncertain significance Single submitter
- HSD17B12 p.Pro6Leu Uncertain significance Single submitter
- HSD17B12 p.Ser137Leu Uncertain significance Single submitter
- HSD17B12 p.Ser188Leu Uncertain significance Single submitter
- HSD17B12 p.Ser267Pro Uncertain significance Single submitter
- HSD17B12 p.Thr254Met Uncertain significance Single submitter
- HSD17B12 p.Thr32Arg Uncertain significance Single submitter
- HSD17B12 p.Tyr290Cys Uncertain significance Single submitter
- HSD17B12 p.Val134Met Uncertain significance Single submitter
- HSD17B12 p.Val196Leu Uncertain significance Single submitter
- HSD17B12 p.Val77Phe Uncertain significance Single submitter
- HSD17B12 p.Val78Ile Uncertain significance Single submitter
- HSD17B12 p.Val90Phe Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- HSD17B12 p.Gly38Glu Uncertain significance Single submitter
- HSD17B12 p.Ile129Thr Uncertain significance Single submitter
- HSD17B12 p.Ile94Met Uncertain significance Single submitter
- HSD17B12 p.Phe234Leu Uncertain significance Single submitter
- HSD17B12 p.Pro47Leu Uncertain significance Single submitter
- HSD17B12 p.Ser300Cys Uncertain significance Single submitter
- HSD17B12 p.Ser300Pro Uncertain significance Single submitter
All HSD17B12 variants
Likely benign 2
- p.His73Arg Single submitter
- p.Val225Ile Single submitter
Uncertain significance 44
- p.Ala110Ser Single submitter ⚠
- p.Ala123Val Single submitter ⚠
- p.Arg179Ser Single submitter ⚠
- p.Arg243Gln Single submitter ⚠
- p.Arg268Gln Single submitter ⚠
- p.Asn133Lys Single submitter ⚠
- p.Asn152Ser Single submitter ⚠
- p.Asn298Thr Single submitter ⚠
- p.Gln214Leu Single submitter ⚠
- p.Gln89His Single submitter ⚠
- p.Glu69Lys Single submitter
- p.Gly121Asp Single submitter ⚠
- p.Gly128Ser Single submitter
- p.Gly264Ser Single submitter
- p.Gly38Glu Single submitter ⚠
- p.His217Arg Single submitter ⚠
- p.His217Gln Single submitter ⚠
- p.Ile129Thr Single submitter ⚠
- p.Ile187Phe Single submitter ⚠
- p.Ile282Asn Single submitter ⚠
- p.Ile94Met Single submitter ⚠
- p.Leu198His Single submitter ⚠
- p.Lys311Met Single submitter ⚠
- p.Phe109Leu Single submitter ⚠
- p.Phe234Leu Single submitter ⚠
- p.Pro195Arg Single submitter ⚠
- p.Pro232Thr Single submitter ⚠
- p.Pro245Ser Single submitter ⚠
- p.Pro252Leu Single submitter ⚠
- p.Pro47Leu Single submitter ⚠
- p.Pro6Leu Single submitter ⚠
- p.Ser137Leu Single submitter ⚠
- p.Ser188Leu Single submitter ⚠
- p.Ser267Pro Single submitter ⚠
- p.Ser300Cys Single submitter ⚠
- p.Ser300Pro Single submitter ⚠
- p.Thr254Met Single submitter ⚠
- p.Thr32Arg Single submitter ⚠
- p.Tyr290Cys Single submitter ⚠
- p.Val134Met Single submitter ⚠
- p.Val196Leu Single submitter ⚠
- p.Val77Phe Single submitter ⚠
- p.Val78Ile Single submitter ⚠
- p.Val90Phe Single submitter ⚠