Sugi Variant

Sugi Variant/C5

C5 — 890 ClinVar variants

All ClinVar germline C5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 354 flagged for review →

34 Pathogenic · 1 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 21 Conflicting · 26 Benign · 23 Benign/Likely benign · 387 Likely benign · 379 Uncertain significance

Full C5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 354

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 11

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

Predictors lean, ClinVar uncertain 217

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 217

Predictors split 125

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

All C5 variants

Pathogenic 34

Pathogenic/Likely pathogenic 1

  • p.Trp469Ter Multiple submitters Eculizumab, poor response to

Likely pathogenic 19

Conflicting classifications of pathogenicity 21

Benign 26

Benign/Likely benign 23

Likely benign 387

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 379

Showing the top 300 by review status; the full set is in the sitemap.