Sugi Variant

Sugi Variant/HPS5

HPS5 — 1148 ClinVar variants

All ClinVar germline HPS5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 334 flagged for review →

87 Pathogenic · 9 Pathogenic/Likely pathogenic · 39 Likely pathogenic · 32 Conflicting · 82 Benign · 28 Benign/Likely benign · 479 Likely benign · 392 Uncertain significance

Full HPS5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 334

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 14

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

Predictors lean, ClinVar uncertain 270

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 270

Predictors split 50

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

All HPS5 variants

Pathogenic 87

Pathogenic/Likely pathogenic 9

  • c.2718-2A>G Multiple submitters Hermansky-Pudlak syndrome 5
  • c.825-1G>A Multiple submitters Hermansky-Pudlak syndrome 5
  • p.Arg693fs Multiple submitters Hermansky-Pudlak syndrome 5
  • p.Gln473Ter Multiple submitters Hermansky-Pudlak syndrome 5
  • p.Glu418fs Multiple submitters Hermansky-Pudlak syndrome 5
  • p.Glu686fs Multiple submitters HPS5-related disorder
  • p.Glu792fs Multiple submitters HPS5-related disorder
  • p.Leu475fs Multiple submitters Hermansky-Pudlak syndrome 5
  • p.Ser679Ter Multiple submitters Hermansky-Pudlak syndrome 5

Likely pathogenic 39

Conflicting classifications of pathogenicity 32

Benign 82

Benign/Likely benign 28

Likely benign 479

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

Uncertain significance 392

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