COX5B — 18 ClinVar variants
All ClinVar germline COX5B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
2 Likely benign · 16 Uncertain significance
Full COX5B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COX5B p.Arg4Ser Uncertain significance Single submitter
- COX5B p.Glu109Lys Uncertain significance Single submitter
- COX5B p.Gly10Ala Uncertain significance Single submitter
- COX5B p.Gly10Arg Uncertain significance Single submitter
- COX5B p.Gly24Val Uncertain significance Single submitter
- COX5B p.Pro38Arg Uncertain significance Single submitter
- COX5B p.Ser23Gly Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- COX5B p.Ala54Val Uncertain significance Single submitter
- COX5B p.Arg112Gln Uncertain significance Single submitter
- COX5B p.Arg29Cys Uncertain significance Single submitter
- COX5B p.Arg7Cys Uncertain significance Single submitter
- COX5B p.Gly34Glu Uncertain significance Single submitter
- COX5B p.Leu12Val Uncertain significance Single submitter
- COX5B p.Lys121Arg Uncertain significance Single submitter
- COX5B p.Met31Ile Uncertain significance Single submitter
- COX5B p.Thr39Ala Uncertain significance Single submitter
All COX5B variants
Likely benign 2
- p.Arg7= Single submitter
- p.Val101Ile Single submitter
Uncertain significance 16
- p.Ala54Val Single submitter ⚠
- p.Arg112Gln Single submitter ⚠
- p.Arg29Cys Single submitter ⚠
- p.Arg4Ser Single submitter ⚠
- p.Arg7Cys Single submitter ⚠
- p.Glu109Lys Single submitter ⚠
- p.Gly10Ala Single submitter ⚠
- p.Gly10Arg Single submitter ⚠
- p.Gly24Val Single submitter ⚠
- p.Gly34Glu Single submitter ⚠
- p.Leu12Val Single submitter ⚠
- p.Lys121Arg Single submitter ⚠
- p.Met31Ile Single submitter ⚠
- p.Pro38Arg Single submitter ⚠
- p.Ser23Gly Single submitter ⚠
- p.Thr39Ala Single submitter ⚠