Sugi Variant

Sugi Variant/TBXAS1

TBXAS1 — 357 ClinVar variants

All ClinVar germline TBXAS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 150 flagged for review →

11 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 29 Conflicting · 25 Benign · 12 Benign/Likely benign · 122 Likely benign · 147 Uncertain significance

Full TBXAS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 150

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 18

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

Predictors lean, ClinVar uncertain 102

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

Predictors split 29

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

All TBXAS1 variants

Pathogenic 11

Pathogenic/Likely pathogenic 1

  • p.Ala474fs Multiple submitters ghosal hematodiaphyseal dysplasia

Likely pathogenic 10

Conflicting classifications of pathogenicity 29

Benign 25

Benign/Likely benign 12

Likely benign 122

Uncertain significance 147