TBP — 43 ClinVar variants

All ClinVar germline TBP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →

7 Benign · 1 Benign/Likely benign · 9 Likely benign · 26 Uncertain significance

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

⚑ Evidence disagreements 24

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 lean, ClinVar uncertain 20

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

Predictors split 4

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

All TBP variants

Benign 7

Benign/Likely benign 1

  • p.Gln72= Multiple submitters Inborn genetic diseases

Likely benign 9

Uncertain significance 26