Sugi Variant

Sugi Variant/LYST

LYST — 3865 ClinVar variants

All ClinVar germline LYST variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1224 flagged for review →

132 Pathogenic · 26 Pathogenic/Likely pathogenic · 107 Likely pathogenic · 151 Conflicting · 125 Benign · 60 Benign/Likely benign · 1574 Likely benign · 1690 Uncertain significance

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

⚑ Evidence disagreements 1224

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 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 73

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

Predictors lean, ClinVar uncertain 1096

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 1096

Predictors split 54

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

All LYST variants

Pathogenic 132

Pathogenic/Likely pathogenic 26

  • c.192+1G>A Multiple submitters Chediak-Higashi syndrome
  • c.8358+2T>C Multiple submitters Chediak-Higashi syndrome
  • c.8802-2A>G Multiple submitters Chediak-Higashi syndrome
  • p.Arg1104Ter Multiple submitters Chediak-Higashi syndrome
  • p.Arg1986Ter Multiple submitters Chediak-Higashi syndrome
  • p.Arg2238Ter Multiple submitters Chediak-Higashi syndrome
  • p.Arg2288Ter Multiple submitters Chediak-Higashi syndrome
  • p.Arg2957Ter Multiple submitters Chediak-Higashi syndrome
  • p.Arg3280Ter Multiple submitters Chediak-Higashi syndrome
  • p.Arg329Ter Multiple submitters Chediak-Higashi syndrome
  • p.Arg3449Ter Multiple submitters Chediak-Higashi syndrome
  • p.Arg503Ter Multiple submitters Chediak-Higashi syndrome
  • p.Arg50Ter Multiple submitters Chediak-Higashi syndrome
  • p.Asp1333fs Multiple submitters Chediak-Higashi syndrome
  • p.Gln162Ter Multiple submitters Chediak-Higashi syndrome
  • p.Gln1831Ter Multiple submitters Chediak-Higashi syndrome
  • p.Glu2809fs Multiple submitters Chediak-Higashi syndrome
  • p.Glu3074fs Multiple submitters Chediak-Higashi syndrome
  • p.Glu3292Ter Multiple submitters Chediak-Higashi syndrome
  • p.Glu805Ter Multiple submitters Chediak-Higashi syndrome
  • p.Leu2379fs Multiple submitters Chediak-Higashi syndrome
  • p.Leu3082fs Multiple submitters Chediak-Higashi syndrome
  • p.Leu3548Ter Multiple submitters Chediak-Higashi syndrome
  • p.Ser1201fs Multiple submitters Chediak-Higashi syndrome
  • p.Ser2719Ter Multiple submitters Chediak-Higashi syndrome
  • p.Tyr3628Ter Multiple submitters Chediak-Higashi syndrome

Likely pathogenic 107

Conflicting classifications of pathogenicity 151

Benign 125

Benign/Likely benign 60

Likely benign 1574

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

Uncertain significance 1690

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