Sugi Variant

Sugi Variant/C9

C9 — 417 ClinVar variants

All ClinVar germline C9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 187 flagged for review →

29 Pathogenic · 10 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 6 Conflicting · 14 Benign · 7 Benign/Likely benign · 153 Likely benign · 192 Uncertain significance

Full C9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 187

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 2

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

Predictors lean, ClinVar uncertain 111

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

Predictors split 74

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

All C9 variants

Pathogenic 29

Pathogenic/Likely pathogenic 10

  • p.Arg116Ter Multiple submitters age related macular degeneration 15
  • p.Arg154Ter Multiple submitters complement component 9 deficiency
  • p.Arg194Ter Multiple submitters complement component 9 deficiency
  • p.Asp403fs Multiple submitters
  • p.Cys54Ter Multiple submitters complement component 9 deficiency
  • p.Met293fs Multiple submitters C9-related disorder
  • p.Ser240_Leu241insTer Multiple submitters complement component 9 deficiency
  • p.Ser347fs Multiple submitters complement component 9 deficiency
  • p.Ser395fs Multiple submitters C9-related disorder
  • p.Tyr193fs Multiple submitters complement component 9 deficiency

Likely pathogenic 6

Conflicting classifications of pathogenicity 6

Benign 14

Benign/Likely benign 7

Likely benign 153

Uncertain significance 192