Sugi Variant

Sugi Variant/KMT2B

KMT2B — 2647 ClinVar variants

All ClinVar germline KMT2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 581 flagged for review →

80 Pathogenic · 3 Pathogenic/Likely pathogenic · 70 Likely pathogenic · 177 Conflicting · 274 Benign · 140 Benign/Likely benign · 870 Likely benign · 1033 Uncertain significance

Full KMT2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 581

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 92

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

Predictors lean, ClinVar uncertain 465

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 465

Predictors split 23

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

All KMT2B variants

Pathogenic 80

Pathogenic/Likely pathogenic 3

Likely pathogenic 70

Conflicting classifications of pathogenicity 177

Benign 274

Benign/Likely benign 140

Likely benign 870

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

Uncertain significance 1033

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