BDH1 — 69 ClinVar variants
All ClinVar germline BDH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
7 Benign · 7 Likely benign · 55 Uncertain significance
Full BDH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BDH1 p.Ala145Asp Uncertain significance Single submitter
- BDH1 p.Ala243Thr Uncertain significance Single submitter
- BDH1 p.Ala282Val Uncertain significance Single submitter
- BDH1 p.Ala305Thr Uncertain significance Single submitter
- BDH1 p.Arg174Gln Uncertain significance Single submitter
- BDH1 p.Arg189His Uncertain significance Single submitter
- BDH1 p.Arg199Cys Uncertain significance Single submitter
- BDH1 p.Arg29Cys Uncertain significance Single submitter
- BDH1 p.Arg43His Uncertain significance Single submitter
- BDH1 p.Arg5Cys Uncertain significance Single submitter
- BDH1 p.Arg5His Uncertain significance Single submitter
-
BDH1 p.Asn192Asp
Uncertain significance
Single submitter
BDH1-related disorder
- BDH1 p.Cys209Tyr Uncertain significance Single submitter
- BDH1 p.Glu118Lys Uncertain significance Single submitter
- BDH1 p.Glu152Ala Uncertain significance Single submitter
- BDH1 p.Gly151Arg Uncertain significance Single submitter
- BDH1 p.Gly214Arg Uncertain significance Single submitter
- BDH1 p.Ile193Ser Uncertain significance Single submitter
- BDH1 p.Ile340Val Uncertain significance Single submitter
- BDH1 p.Lys212Gln Uncertain significance Single submitter
- BDH1 p.Lys258Glu Uncertain significance Single submitter
- BDH1 p.Lys283Met Uncertain significance Single submitter
- BDH1 p.Met175Val Uncertain significance Single submitter
- BDH1 p.Met226Thr Uncertain significance Single submitter
- BDH1 p.Met339Ile Uncertain significance Single submitter
- BDH1 p.Met339Val Uncertain significance Single submitter
- BDH1 p.Pro250Thr Uncertain significance Single submitter
- BDH1 p.Pro30Leu Uncertain significance Single submitter
- BDH1 p.Pro40Leu Uncertain significance Single submitter
- BDH1 p.Pro52Leu Uncertain significance Single submitter
- BDH1 p.Pro52Thr Uncertain significance Single submitter
- BDH1 p.Ser117Arg Uncertain significance Single submitter
- BDH1 p.Ser195Thr Uncertain significance Single submitter
- BDH1 p.Ser55Arg Uncertain significance Single submitter
- BDH1 p.Thr149Met Uncertain significance Single submitter
- BDH1 p.Thr295Met Uncertain significance Single submitter
- BDH1 p.Tyr46His Uncertain significance Single submitter
- BDH1 p.Val191Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- BDH1 p.Arg106Gln Uncertain significance Single submitter
- BDH1 p.Arg205Cys Uncertain significance Single submitter
- BDH1 p.Arg205Gly Uncertain significance Single submitter
- BDH1 p.Arg269Cys Uncertain significance Single submitter
- BDH1 p.Gly214Ala Uncertain significance Single submitter
- BDH1 p.Gly239Ser Uncertain significance Single submitter
- BDH1 p.Met196Thr Uncertain significance Single submitter
- BDH1 p.Thr176Met Uncertain significance Single submitter
- BDH1 p.Tyr248His Uncertain significance Single submitter
- BDH1 p.Tyr287Asn Uncertain significance Single submitter
- BDH1 p.Tyr341Asn Uncertain significance Single submitter
- BDH1 p.Val153Met Uncertain significance Single submitter
- BDH1 p.Val233Ile Uncertain significance Single submitter
- BDH1 p.Val298Ile Uncertain significance Single submitter
All BDH1 variants
Benign 7
- p.Arg44Gln Multiple submitters
- p.Leu59= Multiple submitters
- p.Tyr248= Multiple submitters
- p.Val215Ile Multiple submitters
- p.Met138Ile Single submitter
- p.Arg43Cys No assertion criteria BDH1-related disorder
- p.Gly137= No assertion criteria BDH1-related disorder
Likely benign 7
- p.Ala50Val Single submitter
- p.Arg343His Single submitter
- p.Ile41Thr Single submitter
- c.267+9C>T No assertion criteria BDH1-related disorder
- c.-10C>T No assertion criteria BDH1-related disorder
- p.Arg314His No assertion criteria BDH1-related disorder
- p.Val110Ile No assertion criteria BDH1-related disorder
Uncertain significance 55
- p.Ala145Asp Single submitter ⚠
- p.Ala201Thr Single submitter
- p.Ala243Thr Single submitter ⚠
- p.Ala282Val Single submitter ⚠
- p.Ala305Thr Single submitter ⚠
- p.Arg106Gln Single submitter ⚠
- p.Arg174Gln Single submitter ⚠
- p.Arg189His Single submitter ⚠
- p.Arg199Cys Single submitter ⚠
- p.Arg205Cys Single submitter ⚠
- p.Arg205Gly Single submitter ⚠
- p.Arg269Cys Single submitter ⚠
- p.Arg29Cys Single submitter ⚠
- p.Arg43His Single submitter ⚠
- p.Arg5Cys Single submitter ⚠
- p.Arg5His Single submitter ⚠
- p.Asn192Asp Single submitter BDH1-related disorder ⚠
- p.Cys209Tyr Single submitter ⚠
- p.Glu118Lys Single submitter ⚠
- p.Glu152Ala Single submitter ⚠
- p.Gly151Arg Single submitter ⚠
- p.Gly214Ala Single submitter ⚠
- p.Gly214Arg Single submitter ⚠
- p.Gly239Ser Single submitter ⚠
- p.Ile193Ser Single submitter ⚠
- p.Ile340Val Single submitter ⚠
- p.Lys212Gln Single submitter ⚠
- p.Lys258Glu Single submitter ⚠
- p.Lys283Met Single submitter ⚠
- p.Met175Val Single submitter ⚠
- p.Met196Thr Single submitter ⚠
- p.Met226Thr Single submitter ⚠
- p.Met339Ile Single submitter ⚠
- p.Met339Val Single submitter ⚠
- p.Pro203Leu Single submitter
- p.Pro250Thr Single submitter ⚠
- p.Pro30Leu Single submitter ⚠
- p.Pro40Leu Single submitter ⚠
- p.Pro52Leu Single submitter ⚠
- p.Pro52Thr Single submitter ⚠
- p.Ser117Arg Single submitter ⚠
- p.Ser195Thr Single submitter ⚠
- p.Ser55Arg Single submitter ⚠
- p.Thr149Met Single submitter ⚠
- p.Thr176Met Single submitter ⚠
- p.Thr295Met Single submitter ⚠
- p.Tyr248His Single submitter ⚠
- p.Tyr287Asn Single submitter ⚠
- p.Tyr341Asn Single submitter ⚠
- p.Tyr46His Single submitter ⚠
- p.Val153Met Single submitter ⚠
- p.Val191Ile Single submitter ⚠
- p.Val233Ile Single submitter ⚠
- p.Val235Leu Single submitter
- p.Val298Ile Single submitter ⚠