Sugi Variant

Sugi Variant/TUBB4B

TUBB4B — 219 ClinVar variants

All ClinVar germline TUBB4B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →

2 Pathogenic · 3 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 4 Conflicting · 8 Benign · 11 Benign/Likely benign · 150 Likely benign · 38 Uncertain significance

Full TUBB4B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 31

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 2

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

Predictors lean, ClinVar uncertain 24

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

Predictors split 5

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

All TUBB4B variants

Pathogenic 2

Pathogenic/Likely pathogenic 3

  • p.Arg391Cys Multiple submitters TUBB4B-related disorder
  • p.Arg391His Multiple submitters TUBB4B-related disorder
  • p.Pro358Ser Multiple submitters Leber congenital amaurosis with early-onset deafness

Likely pathogenic 3

Conflicting classifications of pathogenicity 4

Benign 8

Benign/Likely benign 11

Likely benign 150

Uncertain significance 38