Sugi Variant

Sugi Variant/TYK2

TYK2 — 1087 ClinVar variants

All ClinVar germline TYK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 456 flagged for review →

27 Pathogenic · 1 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 40 Conflicting · 75 Benign · 10 Benign/Likely benign · 422 Likely benign · 493 Uncertain significance

Full TYK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 456

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 7

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

Predictors lean, ClinVar uncertain 235

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 235

Predictors split 213

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 213

All TYK2 variants

Pathogenic 27

Pathogenic/Likely pathogenic 1

  • p.Pro216fs Multiple submitters immunodeficiency 35

Likely pathogenic 19

Conflicting classifications of pathogenicity 40

Benign 75

Benign/Likely benign 10

Likely benign 422

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

Uncertain significance 493

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