Sugi Variant

Sugi Variant/SETD2

SETD2 — 1514 ClinVar variants

All ClinVar germline SETD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 834 flagged for review →

45 Pathogenic · 5 Pathogenic/Likely pathogenic · 30 Likely pathogenic · 75 Conflicting · 96 Benign · 54 Benign/Likely benign · 401 Likely benign · 808 Uncertain significance

Full SETD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 834

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 61

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

Predictors lean, ClinVar uncertain 634

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 634

Predictors split 138

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

All SETD2 variants

Pathogenic 45

Pathogenic/Likely pathogenic 5

Likely pathogenic 30

Conflicting classifications of pathogenicity 75

Benign 96

Benign/Likely benign 54

Likely benign 401

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

Uncertain significance 808

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