Sugi Variant

Sugi Variant/C1S

C1S — 681 ClinVar variants

All ClinVar germline C1S variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 361 flagged for review →

29 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 14 Conflicting · 23 Benign · 13 Benign/Likely benign · 212 Likely benign · 381 Uncertain significance

Full C1S gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 361

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 3

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

Predictors lean, ClinVar uncertain 182

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 182

Predictors split 176

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 176

All C1S variants

Pathogenic 29

Pathogenic/Likely pathogenic 1

  • p.Arg437fs Multiple submitters complement component C1s deficiency

Likely pathogenic 8

Conflicting classifications of pathogenicity 14

Benign 23

Benign/Likely benign 13

Likely benign 212

Uncertain significance 381

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