Sugi Variant

Sugi Variant/LIPH

LIPH — 131 ClinVar variants

All ClinVar germline LIPH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →

4 Pathogenic · 5 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 26 Benign · 21 Likely benign · 70 Uncertain significance

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

⚑ Evidence disagreements 66

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 lean, ClinVar uncertain 52

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

Predictors split 14

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

All LIPH variants

Pathogenic 4

  • p.Ile220fs Multiple submitters LIPH-related disorder
  • c.886+405_1094+962del No assertion criteria Woolly hair, autosomal recessive 2, with or without hypotrichosis
  • p.Ile116fs No assertion criteria hypotrichosis 7
  • p.Trp108Arg No assertion criteria Woolly hair, autosomal recessive 2, with or without hypotrichosis

Pathogenic/Likely pathogenic 5

Likely pathogenic 5

Benign 26

Likely benign 21

Uncertain significance 70