Sugi Variant

Sugi Variant/CD28

CD28 — 19 ClinVar variants

All ClinVar germline CD28 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →

1 Pathogenic · 2 Benign · 1 Likely benign · 15 Uncertain significance

Full CD28 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 16

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 lean, ClinVar uncertain 10

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

Predictors split 5

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

All CD28 variants

Pathogenic 1

  • p.Gly18Arg No assertion criteria immunodeficiency 123 with HPV-related verrucosis ⚠

Benign 2

Likely benign 1

Uncertain significance 15