Sugi Variant

Sugi Variant/C1QA

C1QA — 160 ClinVar variants

All ClinVar germline C1QA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →

7 Pathogenic · 2 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 1 Conflicting · 1 Benign · 4 Benign/Likely benign · 59 Likely benign · 83 Uncertain significance

Full C1QA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 74

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.

Predictors lean, ClinVar uncertain 63

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 C1QA variants

Pathogenic 7

Pathogenic/Likely pathogenic 2

  • p.Arg27Ter Multiple submitters C1QA-related disorders
  • p.Thr193fs Multiple submitters C1QA-related disorders

Likely pathogenic 3

Conflicting classifications of pathogenicity 1

Benign 1

Benign/Likely benign 4

Likely benign 59

Uncertain significance 83