Sugi Variant

Sugi Variant/TBX3

TBX3 — 697 ClinVar variants

All ClinVar germline TBX3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 285 flagged for review →

23 Pathogenic · 21 Likely pathogenic · 19 Conflicting · 46 Benign · 17 Benign/Likely benign · 207 Likely benign · 364 Uncertain significance

Full TBX3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 285

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 12

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

Predictors lean, ClinVar uncertain 211

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 211

Predictors split 62

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

All TBX3 variants

Pathogenic 23

  • p.Gln475Ter Multiple submitters Inborn genetic diseases
  • c.389+1G>A Single submitter
  • p.Ala147fs Single submitter ulnar-mammary syndrome
  • p.Ala357fs Single submitter ulnar-mammary syndrome
  • p.Arg236fs Single submitter ulnar-mammary syndrome
  • p.Arg290Ter Single submitter ulnar-mammary syndrome
  • p.Asp347fs Single submitter ulnar-mammary syndrome
  • p.Glu381Ter Single submitter TBX3-related disorder
  • p.Glu432fs Single submitter ulnar-mammary syndrome
  • p.Glu96fs Single submitter TBX3-related disorder
  • p.Met153fs Single submitter ulnar-mammary syndrome
  • p.Pro47fs Single submitter ulnar-mammary syndrome
  • p.Ser55Ter Single submitter ulnar-mammary syndrome
  • p.Trp170Ter Single submitter ulnar-mammary syndrome
  • p.Tyr17fs Single submitter ulnar-mammary syndrome
  • c.657+1G>A No assertion criteria TBX3-related disorder
  • c.657+1G>C No assertion criteria ulnar-mammary syndrome
  • p.Ala337fs No assertion criteria ulnar-mammary syndrome
  • p.Gln331Ter No assertion criteria ulnar-mammary syndrome
  • p.Ile76fs No assertion criteria ulnar-mammary syndrome
  • p.Lys273Ter No assertion criteria ulnar-mammary syndrome
  • p.Met30fs No assertion criteria ulnar-mammary syndrome
  • p.Ser530fs No assertion criteria ulnar-mammary syndrome

Likely pathogenic 21

Conflicting classifications of pathogenicity 19

Benign 46

Benign/Likely benign 17

  • c.881+14_881+17del Multiple submitters ulnar-mammary syndrome
  • c.-251G>A Multiple submitters ulnar-mammary syndrome
  • c.*12A>T Multiple submitters ulnar-mammary syndrome
  • c.*245C>T Multiple submitters ulnar-mammary syndrome
  • p.Ala542Val Multiple submitters ulnar-mammary syndrome
  • p.Ala590Thr Multiple submitters ulnar-mammary syndrome ⚠
  • p.His365= Multiple submitters ulnar-mammary syndrome
  • p.His365Arg Multiple submitters ulnar-mammary syndrome
  • p.Ile259= Multiple submitters ulnar-mammary syndrome
  • p.Leu21= Multiple submitters ulnar-mammary syndrome
  • p.Leu657= Multiple submitters ulnar-mammary syndrome
  • p.Lys694= Multiple submitters ulnar-mammary syndrome
  • p.Pro103= Multiple submitters ulnar-mammary syndrome
  • p.Pro57= Multiple submitters ulnar-mammary syndrome
  • p.Ser551= Multiple submitters ulnar-mammary syndrome
  • p.Ser633= Multiple submitters ulnar-mammary syndrome
  • p.Thr557= Multiple submitters ulnar-mammary syndrome

Likely benign 207

Uncertain significance 364

Showing the top 300 by review status; the full set is in the sitemap.