Sugi Variant

Sugi Variant/MAN2B2

MAN2B2 — 334 ClinVar variants

All ClinVar germline MAN2B2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 238 flagged for review →

3 Pathogenic · 2 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 3 Conflicting · 31 Benign · 5 Benign/Likely benign · 39 Likely benign · 250 Uncertain significance

Full MAN2B2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 238

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 2

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

Predictors lean, ClinVar uncertain 173

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 173

Predictors split 63

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

All MAN2B2 variants

Pathogenic 3

  • p.Gln128His No assertion criteria
  • p.Glu790Lys No assertion criteria congenital disorder of glycosylation type 1EE with or without immunodeficiency
  • p.Ile309Asn No assertion criteria

Pathogenic/Likely pathogenic 2

  • p.Gln615Ter Multiple submitters
  • p.Trp284Ter Multiple submitters congenital disorder of glycosylation type 1EE with or without immunodeficiency

Likely pathogenic 1

  • p.Trp358Ter Single submitter congenital disorder of glycosylation type 1EE with or without immunodeficiency

Conflicting classifications of pathogenicity 3

Benign 31

Benign/Likely benign 5

Likely benign 39

Uncertain significance 250