Sugi Variant

Sugi Variant/TBC1D1

TBC1D1 — 223 ClinVar variants

All ClinVar germline TBC1D1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 166 flagged for review →

2 Conflicting · 5 Benign · 3 Benign/Likely benign · 44 Likely benign · 169 Uncertain significance

Full TBC1D1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 166

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 125

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

Predictors split 39

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

All TBC1D1 variants

Conflicting classifications of pathogenicity 2

Benign 5

Benign/Likely benign 3

Likely benign 44

Uncertain significance 169