Sugi Variant

Sugi Variant/LEMD3

LEMD3 — 931 ClinVar variants

All ClinVar germline LEMD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 475 flagged for review →

50 Pathogenic · 5 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 24 Conflicting · 37 Benign · 10 Benign/Likely benign · 260 Likely benign · 519 Uncertain significance

Full LEMD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 475

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 13

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

Predictors lean, ClinVar uncertain 391

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 391

Predictors split 69

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

All LEMD3 variants

Pathogenic 50

Pathogenic/Likely pathogenic 5

  • p.Arg655Ter Multiple submitters LEMD3-related disorder
  • p.Arg678Ter Multiple submitters Buschke-Ollendorff syndrome
  • p.Glu601Ter Multiple submitters Buschke-Ollendorff syndrome
  • p.Thr603fs Multiple submitters Buschke-Ollendorff syndrome
  • p.Tyr532fs Multiple submitters Inborn genetic diseases

Likely pathogenic 26

Conflicting classifications of pathogenicity 24

Benign 37

Benign/Likely benign 10

Likely benign 260

Uncertain significance 519

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