Sugi Variant

Sugi Variant/TBX20

TBX20 — 760 ClinVar variants

All ClinVar germline TBX20 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 355 flagged for review →

29 Pathogenic · 3 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 17 Conflicting · 19 Benign · 12 Benign/Likely benign · 230 Likely benign · 430 Uncertain significance

Full TBX20 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 355

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 3

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 281

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 281

Predictors split 69

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

All TBX20 variants

Pathogenic 29

Pathogenic/Likely pathogenic 3

  • p.Glu47Ter Multiple submitters Cardiovascular phenotype
  • p.Ser125Ter Multiple submitters atrial septal defect 4
  • p.Trp169Ter Multiple submitters Cardiovascular phenotype

Likely pathogenic 20

Conflicting classifications of pathogenicity 17

Benign 19

Benign/Likely benign 12

  • c.381-21CT[7] Multiple submitters Cardiovascular phenotype
  • c.381-21CT[9] Multiple submitters
  • c.655-13del Multiple submitters
  • p.Ala63Thr Multiple submitters Cardiovascular phenotype
  • p.Arg311Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu344= Multiple submitters Cardiovascular phenotype
  • p.Lys99= Multiple submitters Cardiovascular phenotype
  • p.Pro177= Multiple submitters Cardiovascular phenotype
  • p.Ser167= Multiple submitters Cardiovascular phenotype
  • p.Ser352= Multiple submitters Cardiovascular phenotype
  • p.Thr339= Multiple submitters atrial septal defect 4
  • p.Tyr317= Multiple submitters Cardiovascular phenotype

Likely benign 230

Uncertain significance 430

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