Sugi Variant

Sugi Variant/LMF1

LMF1 — 762 ClinVar variants

All ClinVar germline LMF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 321 flagged for review →

12 Pathogenic · 8 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 31 Conflicting · 62 Benign · 31 Benign/Likely benign · 285 Likely benign · 323 Uncertain significance

Full LMF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 321

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 16

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

Predictors lean, ClinVar uncertain 228

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 228

Predictors split 77

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

All LMF1 variants

Pathogenic 12

Pathogenic/Likely pathogenic 8

  • p.Arg233Ter Multiple submitters Cardiovascular phenotype
  • p.Cys288fs Multiple submitters Cardiovascular phenotype
  • p.Gln299Ter Multiple submitters Cardiovascular phenotype
  • p.Gln422Ter Multiple submitters lipase deficiency, combined
  • p.Glu266fs Multiple submitters lipase deficiency, combined
  • p.Phe441fs Multiple submitters Cardiovascular phenotype
  • p.Ser120Ter Multiple submitters lipase deficiency, combined
  • p.Trp313Ter Multiple submitters

Likely pathogenic 10

Conflicting classifications of pathogenicity 31

Benign 62

Benign/Likely benign 31

Likely benign 285

Uncertain significance 323

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