Sugi Variant

Sugi Variant/LIFR

LIFR — 1363 ClinVar variants

All ClinVar germline LIFR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 367 flagged for review →

75 Pathogenic · 20 Pathogenic/Likely pathogenic · 74 Likely pathogenic · 38 Conflicting · 76 Benign · 27 Benign/Likely benign · 544 Likely benign · 509 Uncertain significance

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

⚑ Evidence disagreements 367

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 14

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

Predictors lean, ClinVar uncertain 307

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 307

Predictors split 44

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

All LIFR variants

Pathogenic 75

Pathogenic/Likely pathogenic 20

  • c.2497+1G>A Multiple submitters Stüve-Wiedemann syndrome 1
  • c.396_397+2del Multiple submitters Stüve-Wiedemann syndrome 1
  • p.Arg160fs Multiple submitters Stüve-Wiedemann syndrome 1
  • p.Arg418Ter Multiple submitters Stüve-Wiedemann syndrome 1
  • p.Arg692Ter Multiple submitters LIFR-related disorder
  • p.Asn411fs Multiple submitters Stuve-Wiedemann syndrome
  • p.Asn58fs Multiple submitters Stuve-Wiedemann syndrome
  • p.Asn85fs Multiple submitters Stüve-Wiedemann syndrome 1
  • p.Cys7_Leu8insTer Multiple submitters Stüve-Wiedemann syndrome 1
  • p.Gln477fs Multiple submitters Stüve-Wiedemann syndrome 1
  • p.Glu586Ter Multiple submitters Stüve-Wiedemann syndrome 1
  • p.Glu822Ter Multiple submitters Stuve-Wiedemann syndrome
  • p.Ile304fs Multiple submitters Stuve-Wiedemann syndrome
  • p.Ile837fs Multiple submitters Stuve-Wiedemann syndrome
  • p.Leu796fs Multiple submitters Stuve-Wiedemann syndrome
  • p.Lys526fs Multiple submitters Stuve-Wiedemann syndrome
  • p.Lys784fs Multiple submitters Stuve-Wiedemann syndrome
  • p.Ser168Ter Multiple submitters Stüve-Wiedemann syndrome 1
  • p.Ser446Ter Multiple submitters Stuve-Wiedemann syndrome
  • p.Ser490Ter Multiple submitters Stüve-Wiedemann syndrome 1

Likely pathogenic 74

Conflicting classifications of pathogenicity 38

Benign 76

Benign/Likely benign 27

Likely benign 544

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

Uncertain significance 509

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