Sugi Variant

Sugi Variant/C6

C6 — 608 ClinVar variants

All ClinVar germline C6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 295 flagged for review →

33 Pathogenic · 9 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 9 Conflicting · 17 Benign · 14 Benign/Likely benign · 210 Likely benign · 297 Uncertain significance

Full C6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 295

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 7

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

Predictors lean, ClinVar uncertain 193

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 193

Predictors split 95

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

All C6 variants

Pathogenic 33

Pathogenic/Likely pathogenic 9

  • p.Arg596Ter Multiple submitters complement component 6 deficiency
  • p.Cys218Ter Multiple submitters complement component 6 deficiency
  • p.Gln274fs Multiple submitters complement component 6 deficiency
  • p.Gln380fs Multiple submitters complement component 6 deficiency
  • p.Gln544fs Multiple submitters complement component 6 deficiency
  • p.Gln779fs Multiple submitters complement component 6 deficiency
  • p.Tyr451Ter Multiple submitters complement component 6 deficiency
  • p.Tyr683Ter Multiple submitters complement component 6 deficiency
  • p.Val802_Phe803insTer Multiple submitters complement component 6 deficiency

Likely pathogenic 19

Conflicting classifications of pathogenicity 9

Benign 17

Benign/Likely benign 14

Likely benign 210

Uncertain significance 297