Sugi Variant

Sugi Variant/C8B

C8B — 423 ClinVar variants

All ClinVar germline C8B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 200 flagged for review →

30 Pathogenic · 3 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 7 Conflicting · 14 Benign · 6 Benign/Likely benign · 147 Likely benign · 208 Uncertain significance

Full C8B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 200

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 4

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

Predictors lean, ClinVar uncertain 116

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

Predictors split 80

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

All C8B variants

Pathogenic 30

Pathogenic/Likely pathogenic 3

  • p.Cys508Ter Multiple submitters C8B-related disorder
  • p.Gln91Ter Multiple submitters C8B-related disorder
  • p.Phe47fs Multiple submitters type II complement component 8 deficiency

Likely pathogenic 8

Conflicting classifications of pathogenicity 7

Benign 14

Benign/Likely benign 6

Likely benign 147

Uncertain significance 208