Sugi Variant

Sugi Variant/COQ9

COQ9 — 338 ClinVar variants

All ClinVar germline COQ9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 140 flagged for review →

17 Pathogenic · 6 Likely pathogenic · 15 Conflicting · 16 Benign · 7 Benign/Likely benign · 129 Likely benign · 148 Uncertain significance

Full COQ9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 140

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 5

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

Predictors lean, ClinVar uncertain 62

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

Predictors split 72

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

All COQ9 variants

Pathogenic 17

  • c.711+3G>C Multiple submitters encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • p.Arg244Ter Multiple submitters encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • p.Gln66fs Multiple submitters encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • p.Met227fs Multiple submitters encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • c.521+1del Single submitter encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • c.521+1G>A Single submitter
  • c.521+2T>C Single submitter Inborn genetic diseases
  • p.Ala68fs Single submitter encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • p.Arg29Ter Single submitter
  • p.Asn239Ter Single submitter
  • p.Gln53Ter Single submitter encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • p.Gln66Ter Single submitter
  • p.Glu198Ter Single submitter
  • p.Glu88Ter Single submitter encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • p.Met137fs Single submitter
  • p.Ser57Ter Single submitter
  • p.Val25Met No assertion criteria encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ⚠

Likely pathogenic 6

  • c.522-1G>A Multiple submitters encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • c.242+2T>G Single submitter encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • c.521+2dup Single submitter encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • c.522-2A>G Single submitter
  • c.711+2T>G Single submitter
  • c.74-2A>G Single submitter encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

Conflicting classifications of pathogenicity 15

  • c.378+9A>G Single submitter encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • c.379-9C>T Single submitter encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • c.522-9C>A Single submitter
  • c.74-13G>A Single submitter encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • p.Ala13Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala9Val Single submitter ⚠
  • p.Arg156Gln Single submitter ⚠
  • p.Arg29Gln Single submitter Inborn genetic diseases ⚠
  • p.Asp279Asn Single submitter encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ⚠
  • p.His62Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ile121Thr Single submitter encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ⚠
  • p.Leu108Arg Single submitter encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ⚠
  • p.Pro24Leu Single submitter encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ⚠
  • p.Ser63Pro Single submitter Inborn genetic diseases ⚠
  • p.Thr105= Single submitter encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

Benign 16

Benign/Likely benign 7

  • c.379-16G>C Multiple submitters encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • c.921+11C>A Multiple submitters encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • c.921+13C>T Multiple submitters encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • p.Arg276Trp Multiple submitters encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • p.Arg27Gly Multiple submitters encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • p.Leu209Val Multiple submitters encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ⚠
  • p.Pro80= Multiple submitters encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

Likely benign 129

Uncertain significance 148