Sugi Variant

Sugi Variant/C1QBP

C1QBP — 195 ClinVar variants

All ClinVar germline C1QBP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →

9 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 2 Conflicting · 15 Benign · 2 Benign/Likely benign · 92 Likely benign · 72 Uncertain significance

Full C1QBP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 69

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 38

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

Predictors split 31

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

All C1QBP variants

Pathogenic 9

Pathogenic/Likely pathogenic 1

  • p.Phe204Leu Multiple submitters mitochondrial disease

Likely pathogenic 2

Conflicting classifications of pathogenicity 2

  • c.576+2T>A Single submitter combined oxidative phosphorylation deficiency 33
  • p.Tyr188del Single submitter combined oxidative phosphorylation deficiency 33

Benign 15

Benign/Likely benign 2

Likely benign 92

Uncertain significance 72