COQ5 — 70 ClinVar variants

All ClinVar germline COQ5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →

1 Likely pathogenic · 1 Conflicting · 3 Benign · 16 Likely benign · 49 Uncertain significance

Full COQ5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 49

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

COQ5 p.Gly118Asp Conflicting Single submitter
coenzyme q10 deficiency, primary, 9

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.

Predictors split 10

The independent predictors disagree with each other — read with care.

All COQ5 variants

Likely pathogenic 1

p.Gln45Ter Single submitter coenzyme q10 deficiency, primary, 9

Conflicting classifications of pathogenicity 1

p.Gly118Asp Single submitter coenzyme q10 deficiency, primary, 9 ⚠

Benign 3

c.575-7C>G Multiple submitters
p.Arg290= Single submitter
p.Pro104= No assertion criteria COQ5-related disorder

Likely benign 16

p.Gly89= Multiple submitters
c.771-6G>A Single submitter
p.Arg134= Single submitter
p.Arg166His Single submitter
p.Gly164= Single submitter
p.Gly164Arg Single submitter ⚠
p.Gly5Arg Single submitter
p.His132Arg Single submitter
p.Leu105Pro Single submitter
p.Lys279= Single submitter
p.Pro204= Single submitter
p.Ser161Pro Single submitter
p.Ser6Gly Single submitter
p.Thr52= Single submitter
c.352+8C>T No assertion criteria COQ5-related disorder
p.Leu111= No assertion criteria COQ5-related disorder

Uncertain significance 49

p.Gly118Ser Multiple submitters coenzyme q10 deficiency, primary, 9 ⚠
p.Ala232Val Single submitter ⚠
p.Ala2Val Single submitter ⚠
p.Ala8Asp Single submitter ⚠
p.Ala8Pro Single submitter ⚠
p.Ala8Thr Single submitter ⚠
p.Arg123Gln Single submitter ⚠
p.Arg166Cys Single submitter ⚠
p.Arg241Gln Single submitter ⚠
p.Asn157Ile Single submitter ⚠
p.Asn173Ser Single submitter ⚠
p.Asn252Lys Single submitter ⚠
p.Asp199Val Single submitter ⚠
p.Asp226Glu Single submitter ⚠
p.Asp226Gly Single submitter ⚠
p.Asp84Gly Single submitter ⚠
p.Gln70His Single submitter ⚠
p.Glu154Ala Single submitter ⚠
p.Glu312Lys Single submitter ⚠
p.Glu61Lys Single submitter ⚠
p.Glu63Asp Single submitter ⚠
p.Gly164Glu Single submitter ⚠
p.Gly276Arg Single submitter ⚠
p.Gly65Trp Single submitter ⚠
p.His103Asp Single submitter ⚠
p.His322Arg Single submitter ⚠
p.Leu125Pro Single submitter coenzyme q10 deficiency, primary, 9 ⚠
p.Leu197Ser Single submitter ⚠
p.Leu29Pro Single submitter ⚠
p.Leu327Ile Single submitter ⚠
p.Leu327Val Single submitter ⚠
p.Lys174Gln Single submitter ⚠
p.Lys298Glu Single submitter ⚠
p.Lys95Glu Single submitter ⚠
p.Met102Val Single submitter ⚠
p.Met21Leu Single submitter ⚠
p.Met85Val Single submitter ⚠
p.Pro204His Single submitter ⚠
p.Pro34Ser Single submitter ⚠
p.Pro4Ser Single submitter ⚠
p.Ser11Arg Single submitter ⚠
p.Ser11fs Single submitter
p.Ser60fs Single submitter
p.Ser6Asn Single submitter ⚠
p.Ser6Ile Single submitter ⚠
p.Ser87Arg Single submitter ⚠
p.Tyr281Phe Single submitter ⚠
p.Val169Ala Single submitter ⚠
p.Val59Ala Single submitter ⚠