BCO2 — 80 ClinVar variants
All ClinVar germline BCO2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →
9 Likely benign · 71 Uncertain significance
Full BCO2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 70
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BCO2 p.Ala115Val Uncertain significance Single submitter
- BCO2 p.Ala318Val Uncertain significance Single submitter
- BCO2 p.Arg315Gln Uncertain significance Single submitter
- BCO2 p.Arg315Pro Uncertain significance Single submitter
- BCO2 p.Arg332Pro Uncertain significance Single submitter
- BCO2 p.Arg410Trp Uncertain significance Single submitter
- BCO2 p.Arg49Gln Uncertain significance Single submitter
- BCO2 p.Asn134Lys Uncertain significance Single submitter
- BCO2 p.Asn181Ser Uncertain significance Single submitter
- BCO2 p.Asn401Lys Uncertain significance Single submitter
- BCO2 p.Asn526Lys Uncertain significance Single submitter
- BCO2 p.Asn81Ser Uncertain significance Single submitter
- BCO2 p.Asp510Asn Uncertain significance Single submitter
- BCO2 p.Cys329Arg Uncertain significance Single submitter
- BCO2 p.Cys53Arg Uncertain significance Single submitter
- BCO2 p.Gln385Glu Uncertain significance Single submitter
- BCO2 p.Glu257Gly Uncertain significance Single submitter
- BCO2 p.Glu423Lys Uncertain significance Single submitter
- BCO2 p.Gly483Asp Uncertain significance Single submitter
- BCO2 p.Gly574Arg Uncertain significance Single submitter
- BCO2 p.Gly82Ala Uncertain significance Single submitter
- BCO2 p.Gly95Arg Uncertain significance Single submitter
- BCO2 p.His286Arg Uncertain significance Single submitter
- BCO2 p.His357Tyr Uncertain significance Single submitter
- BCO2 p.Ile463Val Uncertain significance Single submitter
- BCO2 p.Ile548Thr Uncertain significance Single submitter
- BCO2 p.Leu28Val Uncertain significance Single submitter
- BCO2 p.Leu452Arg Uncertain significance Single submitter
- BCO2 p.Phe473Leu Uncertain significance Single submitter
- BCO2 p.Pro22Leu Uncertain significance Single submitter
- BCO2 p.Thr147Ala Uncertain significance Single submitter
- BCO2 p.Thr175Ile Uncertain significance Single submitter
- BCO2 p.Thr277Arg Uncertain significance Single submitter
- BCO2 p.Val259Ala Uncertain significance Single submitter
- BCO2 p.Val354Ile Uncertain significance Single submitter
- BCO2 p.Val500Met Uncertain significance Single submitter
- BCO2 p.Val5Ala Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- BCO2 p.Ala223Gly Uncertain significance Single submitter
- BCO2 p.Ala437Ser Uncertain significance Single submitter
- BCO2 p.Arg184Trp Uncertain significance Single submitter
- BCO2 p.Arg253Gln Uncertain significance Single submitter
- BCO2 p.Arg27Trp Uncertain significance Single submitter
- BCO2 p.Arg315Trp Uncertain significance Single submitter
- BCO2 p.Arg332Gln Likely benign Single submitter
- BCO2 p.Arg487Trp Uncertain significance Single submitter
- BCO2 p.Asn100Asp Uncertain significance Single submitter
- BCO2 p.Asn360Ser Uncertain significance Single submitter
- BCO2 p.Asn426His Uncertain significance Single submitter
- BCO2 p.Asp510Tyr Uncertain significance Single submitter
- BCO2 p.Gln127Arg Uncertain significance Single submitter
- BCO2 p.Glu93Lys Uncertain significance Single submitter
- BCO2 p.Gly243Arg Uncertain significance Single submitter
- BCO2 p.Gly511Asp Uncertain significance Single submitter
- BCO2 p.Ile140Val Uncertain significance Single submitter
- BCO2 p.Ile218Met Uncertain significance Single submitter
- BCO2 p.Ile252Met Uncertain significance Single submitter
- BCO2 p.Ile309Thr Uncertain significance Single submitter
- BCO2 p.Leu534Phe Uncertain significance Single submitter
- BCO2 p.Met238Leu Uncertain significance Single submitter
- BCO2 p.Pro422Ser Uncertain significance Single submitter
- BCO2 p.Pro56Leu Uncertain significance Single submitter
- BCO2 p.Ser324Asn Uncertain significance Single submitter
- BCO2 p.Ser448Cys Uncertain significance Single submitter
- BCO2 p.Thr331Met Uncertain significance Single submitter
- BCO2 p.Thr444Met Uncertain significance Single submitter
- BCO2 p.Trp446Cys Uncertain significance Single submitter
- BCO2 p.Tyr384Cys Uncertain significance Single submitter
- BCO2 p.Val23Met Uncertain significance Single submitter
- BCO2 p.Val335Met Uncertain significance Single submitter
- BCO2 p.Val532Leu Uncertain significance Single submitter
All BCO2 variants
Likely benign 9
- p.Arg472Ter Multiple submitters
- p.Arg292Lys Single submitter
- p.Arg332Gln Single submitter ⚠
- p.Arg472Gln Single submitter
- p.Arg66Gln Single submitter
- p.Asn526Ser Single submitter
- p.Lys78Glu Single submitter
- p.Pro244= Single submitter
- p.Thr16Ile Single submitter
Uncertain significance 71
- p.Ala115Val Single submitter ⚠
- p.Ala223Gly Single submitter ⚠
- p.Ala318Val Single submitter ⚠
- p.Ala437Ser Single submitter ⚠
- p.Arg184Trp Single submitter ⚠
- p.Arg253Gln Single submitter ⚠
- p.Arg27Trp Single submitter ⚠
- p.Arg315Gln Single submitter ⚠
- p.Arg315Pro Single submitter ⚠
- p.Arg315Trp Single submitter ⚠
- p.Arg332Pro Single submitter ⚠
- p.Arg410Trp Single submitter ⚠
- p.Arg487Trp Single submitter ⚠
- p.Arg49Gln Single submitter ⚠
- p.Arg4Ter Single submitter HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
- p.Asn100Asp Single submitter ⚠
- p.Asn134Lys Single submitter ⚠
- p.Asn181Ser Single submitter ⚠
- p.Asn360Ser Single submitter ⚠
- p.Asn401Lys Single submitter ⚠
- p.Asn426His Single submitter ⚠
- p.Asn526Lys Single submitter ⚠
- p.Asn81Ser Single submitter ⚠
- p.Asp510Asn Single submitter ⚠
- p.Asp510Tyr Single submitter ⚠
- p.Cys329Arg Single submitter ⚠
- p.Cys53Arg Single submitter ⚠
- p.Gln127Arg Single submitter ⚠
- p.Gln385Glu Single submitter ⚠
- p.Glu257Gly Single submitter ⚠
- p.Glu423Lys Single submitter ⚠
- p.Glu93Lys Single submitter ⚠
- p.Gly243Arg Single submitter ⚠
- p.Gly483Asp Single submitter ⚠
- p.Gly511Asp Single submitter ⚠
- p.Gly574Arg Single submitter ⚠
- p.Gly82Ala Single submitter ⚠
- p.Gly95Arg Single submitter ⚠
- p.His286Arg Single submitter ⚠
- p.His357Tyr Single submitter ⚠
- p.Ile140Val Single submitter ⚠
- p.Ile218Met Single submitter ⚠
- p.Ile252Met Single submitter ⚠
- p.Ile309Thr Single submitter ⚠
- p.Ile463Val Single submitter ⚠
- p.Ile548Thr Single submitter ⚠
- p.Leu28Val Single submitter ⚠
- p.Leu452Arg Single submitter ⚠
- p.Leu534Phe Single submitter ⚠
- p.Met238Leu Single submitter ⚠
- p.Phe473Leu Single submitter ⚠
- p.Pro22Leu Single submitter ⚠
- p.Pro422Ser Single submitter ⚠
- p.Pro56Leu Single submitter ⚠
- p.Ser324Asn Single submitter ⚠
- p.Ser448Cys Single submitter ⚠
- p.Thr147Ala Single submitter ⚠
- p.Thr175Ile Single submitter ⚠
- p.Thr277Arg Single submitter ⚠
- p.Thr331Met Single submitter ⚠
- p.Thr444Met Single submitter ⚠
- p.Trp446Cys Single submitter ⚠
- p.Tyr384Cys Single submitter ⚠
- p.Val23Met Single submitter ⚠
- p.Val259Ala Single submitter ⚠
- p.Val335Met Single submitter ⚠
- p.Val354Ile Single submitter ⚠
- p.Val500Met Single submitter ⚠
- p.Val532Leu Single submitter ⚠
- p.Val5Ala Single submitter ⚠
- p.Lys250fs No assertion criteria