Sugi Variant

Sugi Variant/LIM2

LIM2 — 118 ClinVar variants

All ClinVar germline LIM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Conflicting · 10 Benign · 1 Benign/Likely benign · 15 Likely benign · 82 Uncertain significance

Full LIM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 50

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 3

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

Predictors lean, ClinVar uncertain 24

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

Predictors split 23

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

All LIM2 variants

Pathogenic 2

  • p.Gly154Glu No assertion criteria cataract 19 multiple types
  • p.Phe105Val No assertion criteria cataract 19 multiple types

Pathogenic/Likely pathogenic 1

  • p.Arg130Cys Multiple submitters LIM2-related disorder

Conflicting classifications of pathogenicity 7

Benign 10

Benign/Likely benign 1

  • c.175+11C>T Multiple submitters cataract 19 multiple types

Likely benign 15

  • c.-27C>T Multiple submitters cataract 19 multiple types
  • p.Thr123= Multiple submitters cataract 19 multiple types
  • c.175+103A>G Single submitter Inborn genetic diseases
  • c.175+143G>C Single submitter
  • c.175+29C>T Single submitter cataract 19 multiple types
  • c.175+83A>G Single submitter cataract 19 multiple types
  • c.326-15G>A Single submitter cataract 19 multiple types
  • c.460+13A>T Single submitter cataract 19 multiple types
  • c.461-15C>A Single submitter cataract 19 multiple types
  • p.Ala87Thr Single submitter Inborn genetic diseases
  • p.Asp26= Single submitter
  • p.Cys74= Single submitter cataract 19 multiple types
  • p.Gly48= Single submitter cataract 19 multiple types
  • p.Gly82= Single submitter cataract 19 multiple types
  • p.Tyr161= No assertion criteria LIM2-related disorder

Uncertain significance 82