BDH2 — 37 ClinVar variants
All ClinVar germline BDH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
2 Benign · 35 Uncertain significance
Full BDH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BDH2 p.Ala14Thr Uncertain significance Single submitter
- BDH2 p.Ala23Pro Uncertain significance Single submitter
- BDH2 p.Asn105Ile Uncertain significance Single submitter
- BDH2 p.Asn105Ser Uncertain significance Single submitter
- BDH2 p.Asn173Thr Uncertain significance Single submitter
- BDH2 p.Asn200Lys Uncertain significance Single submitter
- BDH2 p.Asp58Val Uncertain significance Single submitter
- BDH2 p.Cys172Trp Uncertain significance Single submitter
- BDH2 p.Gly88Glu Uncertain significance Single submitter
- BDH2 p.Ile128Ser Uncertain significance Single submitter
- BDH2 p.Leu224Ser Uncertain significance Single submitter
- BDH2 p.Met109Val Uncertain significance Single submitter
- BDH2 p.Phe26Cys Uncertain significance Single submitter
- BDH2 p.Thr150Ile Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- BDH2 p.Ala27Val Uncertain significance Single submitter
- BDH2 p.Arg199Trp Uncertain significance Single submitter
- BDH2 p.Arg3Gln Uncertain significance Single submitter
- BDH2 p.Arg55Cys Uncertain significance Single submitter
- BDH2 p.Arg55His Uncertain significance Single submitter
- BDH2 p.Asn103His Uncertain significance Single submitter
- BDH2 p.Asn127Lys Uncertain significance Single submitter
- BDH2 p.Asn200Thr Uncertain significance Single submitter
- BDH2 p.Asp66Tyr Uncertain significance Single submitter
- BDH2 p.Asp97Asn Uncertain significance Single submitter
- BDH2 p.Gln64His Uncertain significance Single submitter
- BDH2 p.Glu196Lys Uncertain significance Single submitter
- BDH2 p.Ile38Asn Uncertain significance Single submitter
- BDH2 p.Leu117Val Uncertain significance Single submitter
- BDH2 p.Lys48Glu Uncertain significance Single submitter
- BDH2 p.Phe211Leu Uncertain significance Single submitter
- BDH2 p.Pro50Leu Uncertain significance Single submitter
- BDH2 p.Ser125Cys Uncertain significance Single submitter
- BDH2 p.Val154Met Uncertain significance Single submitter
- BDH2 p.Val222Met Uncertain significance Single submitter
- BDH2 p.Val85Leu Uncertain significance Single submitter
All BDH2 variants
Benign 2
- p.Thr182= Multiple submitters
- p.Glu29Asp Single submitter
Uncertain significance 35
- p.Ala14Thr Single submitter ⚠
- p.Ala23Pro Single submitter ⚠
- p.Ala27Val Single submitter ⚠
- p.Arg199Trp Single submitter ⚠
- p.Arg3Gln Single submitter ⚠
- p.Arg55Cys Single submitter ⚠
- p.Arg55His Single submitter ⚠
- p.Asn103His Single submitter ⚠
- p.Asn105Ile Single submitter ⚠
- p.Asn105Ser Single submitter ⚠
- p.Asn127Lys Single submitter ⚠
- p.Asn173Thr Single submitter ⚠
- p.Asn200Lys Single submitter ⚠
- p.Asn200Thr Single submitter ⚠
- p.Asp58Val Single submitter ⚠
- p.Asp66Tyr Single submitter ⚠
- p.Asp97Asn Single submitter ⚠
- p.Cys172Trp Single submitter ⚠
- p.Gln64His Single submitter ⚠
- p.Glu196Lys Single submitter ⚠
- p.Gly88Glu Single submitter ⚠
- p.Ile128Ser Single submitter ⚠
- p.Ile38Asn Single submitter ⚠
- p.Leu117Val Single submitter ⚠
- p.Leu224Ser Single submitter ⚠
- p.Lys48Glu Single submitter ⚠
- p.Met109Val Single submitter ⚠
- p.Phe211Leu Single submitter ⚠
- p.Phe26Cys Single submitter ⚠
- p.Pro50Leu Single submitter ⚠
- p.Ser125Cys Single submitter ⚠
- p.Thr150Ile Single submitter ⚠
- p.Val154Met Single submitter ⚠
- p.Val222Met Single submitter ⚠
- p.Val85Leu Single submitter ⚠