Sugi Variant

Sugi Variant/COQ2

COQ2 — 440 ClinVar variants

All ClinVar germline COQ2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 143 flagged for review →

9 Pathogenic · 4 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 33 Conflicting · 21 Benign · 10 Benign/Likely benign · 159 Likely benign · 177 Uncertain significance

Full COQ2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 143

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 14

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

Predictors lean, ClinVar uncertain 103

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 26

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

All COQ2 variants

Pathogenic 9

Pathogenic/Likely pathogenic 4

  • p.Arg147His Multiple submitters multiple system atrophy 1, susceptibility to
  • p.Asn351fs Multiple submitters coenzyme Q10 deficiency, primary, 1
  • p.Ile323fs Multiple submitters coenzyme Q10 deficiency, primary, 1
  • p.Trp87Ter Multiple submitters Neonatal encephalopathy

Likely pathogenic 27

Conflicting classifications of pathogenicity 33

Benign 21

Benign/Likely benign 10

  • c.762+14C>A Multiple submitters multiple system atrophy 1, susceptibility to
  • p.Arg10= Multiple submitters multiple system atrophy 1, susceptibility to
  • p.Arg22= Multiple submitters
  • p.Arg22Ter Multiple submitters coenzyme Q10 deficiency, primary, 1
  • p.Asn146Ser Multiple submitters
  • p.Leu25Val Multiple submitters
  • p.Thr142Ala Multiple submitters
  • p.Tyr319= Multiple submitters multiple system atrophy 1, susceptibility to
  • p.Val343Ala Multiple submitters ⚠
  • p.Val63= Multiple submitters focal segmental glomerulosclerosis

Likely benign 159

Uncertain significance 177