Sugi Variant

Sugi Variant/TAB2

TAB2 — 236 ClinVar variants

All ClinVar germline TAB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →

22 Pathogenic · 3 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 10 Conflicting · 15 Benign · 3 Benign/Likely benign · 64 Likely benign · 109 Uncertain significance

Full TAB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 102

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 agree, ClinVar conflicts 6

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

Predictors lean, ClinVar uncertain 73

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

Predictors split 22

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

All TAB2 variants

Pathogenic 22

Pathogenic/Likely pathogenic 3

Likely pathogenic 10

  • p.Arg574Ter Multiple submitters congenital heart defects, multiple types, 2
  • p.Gln111Ter Single submitter TAB2-related disorder
  • p.Gln135Ter Single submitter
  • p.Gln603fs Single submitter congenital heart defects, multiple types, 2
  • p.His105fs Single submitter
  • p.His89fs Single submitter TAB2-related disorder
  • p.Ile219fs Single submitter congenital heart defects, multiple types, 2
  • p.Pro183Leu Single submitter congenital heart defects, multiple types, 2
  • p.Ser580Ter Single submitter congenital heart defects, multiple types, 2
  • p.Val27fs Single submitter TAB2-related disorder

Conflicting classifications of pathogenicity 10

Benign 15

Benign/Likely benign 3

  • p.Gln7= Multiple submitters congenital heart defects, multiple types, 2
  • p.Glu125= Multiple submitters
  • p.Gly94= Multiple submitters

Likely benign 64

Uncertain significance 109