Sugi Variant

Sugi Variant/TBX1

TBX1 — 1117 ClinVar variants

All ClinVar germline TBX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 281 flagged for review →

37 Pathogenic · 3 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 42 Conflicting · 23 Benign · 25 Benign/Likely benign · 368 Likely benign · 598 Uncertain significance

Full TBX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 281

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 11

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

Predictors lean, ClinVar uncertain 228

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 228

Predictors split 41

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

All TBX1 variants

Pathogenic 37

Pathogenic/Likely pathogenic 3

Likely pathogenic 21

Conflicting classifications of pathogenicity 42

Benign 23

Benign/Likely benign 25

  • c.437+11C>T Multiple submitters DiGeorge syndrome
  • c.540-16C>T Multiple submitters DiGeorge syndrome
  • c.540-17A>C Multiple submitters DiGeorge syndrome
  • c.540-7G>A Multiple submitters DiGeorge syndrome
  • c.540-8C>T Multiple submitters DiGeorge syndrome
  • c.936-9del Multiple submitters DiGeorge syndrome
  • c.-39C>T Multiple submitters DiGeorge syndrome
  • c.-86-48C>G Multiple submitters
  • p.Ala320= Multiple submitters Cardiovascular phenotype
  • p.Ala413Gly Multiple submitters DiGeorge syndrome
  • p.Ala475Val Multiple submitters Cardiovascular phenotype
  • p.Ala476_Ala485del Multiple submitters Cardiovascular phenotype
  • p.Arg351Gln Multiple submitters Cardiovascular phenotype
  • p.Asn235= Multiple submitters DiGeorge syndrome
  • p.Asn406His Multiple submitters Cardiovascular phenotype
  • p.Gly319Ser Multiple submitters Cardiovascular phenotype
  • p.Gly415Asp Multiple submitters Cardiovascular phenotype
  • p.His460= Multiple submitters Cardiovascular phenotype
  • p.Leu30= Multiple submitters DiGeorge syndrome
  • p.Phe149= Multiple submitters Cardiovascular phenotype
  • p.Phe157= Multiple submitters Cardiovascular phenotype
  • p.Pro318= Multiple submitters Cardiovascular phenotype
  • p.Pro76dup Multiple submitters DiGeorge syndrome
  • p.Thr198= Multiple submitters Cardiovascular phenotype
  • p.Val116= Multiple submitters DiGeorge syndrome

Likely benign 368

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

Uncertain significance 598

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