Sugi Variant

Sugi Variant/CD81

CD81 — 301 ClinVar variants

All ClinVar germline CD81 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 100 flagged for review →

1 Pathogenic · 2 Conflicting · 26 Benign · 4 Benign/Likely benign · 145 Likely benign · 123 Uncertain significance

Full CD81 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 100

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 1

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

Predictors lean, ClinVar uncertain 51

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

Predictors split 48

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

All CD81 variants

Pathogenic 1

  • p.Thr149fs Single submitter immunodeficiency, common variable, 6

Conflicting classifications of pathogenicity 2

Benign 26

Benign/Likely benign 4

  • c.459+4C>T Multiple submitters immunodeficiency, common variable, 6
  • c.648+10C>T Multiple submitters immunodeficiency, common variable, 6
  • p.Asp138= Multiple submitters immunodeficiency, common variable, 6
  • p.Phe74= Multiple submitters

Likely benign 145

Uncertain significance 123