Sugi Variant

Sugi Variant/LMBRD2

LMBRD2 — 154 ClinVar variants

All ClinVar germline LMBRD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 3 Conflicting · 5 Benign · 12 Likely benign · 124 Uncertain significance

Full LMBRD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 115

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

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 81

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 30

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

All LMBRD2 variants

Pathogenic 1

  • p.Trp123Arg Single submitter developmental delay with variable neurologic and brain abnormalities

Pathogenic/Likely pathogenic 1

Likely pathogenic 8

  • p.Arg483Cys Single submitter developmental delay with variable neurologic and brain abnormalities ⚠
  • p.Gln280His Single submitter ⚠
  • p.Gln326Glu Single submitter ⚠
  • p.Phe476Leu Single submitter developmental delay with variable neurologic and brain abnormalities
  • p.Phe50Ser Single submitter developmental delay with variable neurologic and brain abnormalities
  • p.Pro487Leu Single submitter neurodevelopmental disorder
  • p.Ser523Cys Single submitter
  • p.Val114Glu Single submitter developmental delay with variable neurologic and brain abnormalities

Conflicting classifications of pathogenicity 3

Benign 5

Likely benign 12

Uncertain significance 124