Sugi Variant

Sugi Variant/DEF6

DEF6 — 380 ClinVar variants

All ClinVar germline DEF6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 145 flagged for review →

8 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 15 Benign · 3 Benign/Likely benign · 193 Likely benign · 158 Uncertain significance

Full DEF6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 145

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 80

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

Predictors split 63

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

All DEF6 variants

Pathogenic 8

Likely pathogenic 1

  • p.Leu159fs Single submitter immunodeficiency 87 and autoimmunity

Conflicting classifications of pathogenicity 2

Benign 15

Benign/Likely benign 3

Likely benign 193

Uncertain significance 158