Sugi Variant

Sugi Variant/HPS4

HPS4 — 905 ClinVar variants

All ClinVar germline HPS4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 264 flagged for review →

32 Pathogenic · 10 Pathogenic/Likely pathogenic · 48 Likely pathogenic · 48 Conflicting · 38 Benign · 16 Benign/Likely benign · 395 Likely benign · 318 Uncertain significance

Full HPS4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 264

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 22

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

Predictors lean, ClinVar uncertain 203

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 203

Predictors split 39

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

All HPS4 variants

Pathogenic 32

Pathogenic/Likely pathogenic 10

  • c.673_686del Multiple submitters Hermansky-Pudlak syndrome 4
  • c.706+1G>A Multiple submitters Hermansky-Pudlak syndrome 4
  • p.Arg217Ter Multiple submitters HPS4-related disorders
  • p.Asn16fs Multiple submitters Hermansky-Pudlak syndrome 4
  • p.Gln378Ter Multiple submitters Hermansky-Pudlak syndrome
  • p.Gln516Ter Multiple submitters Hermansky-Pudlak syndrome 4
  • p.Glu444Ter Multiple submitters Hermansky-Pudlak syndrome 4
  • p.Leu363fs Multiple submitters Hermansky-Pudlak syndrome 4
  • p.Leu590fs Multiple submitters Hermansky-Pudlak syndrome 4
  • p.Pro685fs Multiple submitters Hermansky-Pudlak syndrome 4

Likely pathogenic 48

Conflicting classifications of pathogenicity 48

Benign 38

Benign/Likely benign 16

Likely benign 395

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

Uncertain significance 318

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