Sugi Variant

Sugi Variant/MAN2B1

MAN2B1 — 1671 ClinVar variants

All ClinVar germline MAN2B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 400 flagged for review →

91 Pathogenic · 58 Pathogenic/Likely pathogenic · 161 Likely pathogenic · 59 Conflicting · 45 Benign · 12 Benign/Likely benign · 805 Likely benign · 440 Uncertain significance

Full MAN2B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 400

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 24

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

Predictors lean, ClinVar uncertain 270

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 270

Predictors split 105

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

All MAN2B1 variants

Pathogenic 91

Pathogenic/Likely pathogenic 58

Likely pathogenic 161

Conflicting classifications of pathogenicity 59

Benign 45

Benign/Likely benign 12

Likely benign 805

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

Uncertain significance 440

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