Sugi Variant

Sugi Variant/TTBK2

TTBK2 — 532 ClinVar variants

All ClinVar germline TTBK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 295 flagged for review →

6 Pathogenic · 6 Likely pathogenic · 40 Conflicting · 36 Benign · 22 Benign/Likely benign · 110 Likely benign · 312 Uncertain significance

Full TTBK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 295

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 31

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

Predicted LoF vs a conflicting call 1

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 234

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 234

Predictors split 29

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

All TTBK2 variants

Pathogenic 6

Likely pathogenic 6

Conflicting classifications of pathogenicity 40

Benign 36

Benign/Likely benign 22

Likely benign 110

Uncertain significance 312

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