Sugi Variant

Sugi Variant/LAMB1

LAMB1 — 1118 ClinVar variants

All ClinVar germline LAMB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 524 flagged for review →

26 Pathogenic · 1 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 28 Conflicting · 112 Benign · 23 Benign/Likely benign · 334 Likely benign · 577 Uncertain significance

Full LAMB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 524

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 18

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

Predictors lean, ClinVar uncertain 420

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 420

Predictors split 86

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

All LAMB1 variants

Pathogenic 26

Pathogenic/Likely pathogenic 1

  • c.4188+1G>C Multiple submitters classic lissencephaly

Likely pathogenic 17

  • c.1000+1G>T Single submitter cobblestone lissencephaly without muscular or ocular involvement
  • c.1370-1G>C Single submitter
  • c.2458+1G>A Single submitter LAMB1-related disorder
  • c.4537+1G>A Single submitter cobblestone lissencephaly without muscular or ocular involvement
  • c.4888-1G>T Single submitter
  • c.677-2A>G Single submitter
  • c.880-1G>A Single submitter cobblestone lissencephaly without muscular or ocular involvement
  • c.-86-2A>C Single submitter cobblestone lissencephaly without muscular or ocular involvement
  • p.Arg390Ter Single submitter
  • p.Asn270fs Single submitter
  • p.Glu1668fs Single submitter intellectual disability
  • p.Gly909fs Single submitter
  • p.Leu1455fs Single submitter cobblestone lissencephaly without muscular or ocular involvement
  • p.Pro105fs Single submitter
  • p.Pro659fs Single submitter cobblestone lissencephaly without muscular or ocular involvement
  • p.Trp321Ter Single submitter cobblestone lissencephaly without muscular or ocular involvement
  • p.Arg795Trp No assertion criteria multiple sclerosis

Conflicting classifications of pathogenicity 28

Benign 112

Benign/Likely benign 23

Likely benign 334

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

Uncertain significance 577

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