Sugi Variant

Sugi Variant/TBX2

TBX2 — 211 ClinVar variants

All ClinVar germline TBX2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 112 flagged for review →

1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 1 Conflicting · 12 Benign · 4 Benign/Likely benign · 61 Likely benign · 128 Uncertain significance

Full TBX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 112

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 87

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

Predictors split 23

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

All TBX2 variants

Pathogenic/Likely pathogenic 1

  • p.Arg20Gln Multiple submitters vertebral anomalies and variable endocrine and T-cell dysfunction ⚠

Likely pathogenic 4

  • p.His168fs Single submitter vertebral anomalies and variable endocrine and T-cell dysfunction
  • p.Pro364Ser Single submitter TBX2-related disorder ⚠
  • p.Phe167Leu No assertion criteria vertebral anomalies and variable endocrine and T-cell dysfunction
  • p.Phe37Cys No assertion criteria vertebral anomalies and variable endocrine and T-cell dysfunction ⚠

Conflicting classifications of pathogenicity 1

  • c.887+2T>C Single submitter vertebral anomalies and variable endocrine and T-cell dysfunction

Benign 12

  • c.1051+39C>G Multiple submitters vertebral anomalies and variable endocrine and T-cell dysfunction
  • c.1051+43G>A Multiple submitters vertebral anomalies and variable endocrine and T-cell dysfunction
  • c.1687-22C>T Multiple submitters vertebral anomalies and variable endocrine and T-cell dysfunction
  • c.*218G>T Multiple submitters
  • p.Arg616Gln Multiple submitters
  • p.Gly571Ala Multiple submitters
  • p.Pro393= Multiple submitters
  • p.Ser609= Multiple submitters vertebral anomalies and variable endocrine and T-cell dysfunction
  • c.1051+36del Single submitter vertebral anomalies and variable endocrine and T-cell dysfunction
  • p.Glu352= Single submitter
  • p.Pro387Leu Single submitter
  • p.Pro677Leu Single submitter

Benign/Likely benign 4

  • p.Arg404= Multiple submitters vertebral anomalies and variable endocrine and T-cell dysfunction
  • p.Gly122= Multiple submitters
  • p.Pro375= Multiple submitters
  • p.Val263= Multiple submitters

Likely benign 61

Uncertain significance 128