Sugi Variant

Sugi Variant/HPSE2

HPSE2 — 279 ClinVar variants

All ClinVar germline HPSE2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 135 flagged for review →

10 Pathogenic · 3 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 2 Conflicting · 39 Benign · 13 Benign/Likely benign · 49 Likely benign · 153 Uncertain significance

Full HPSE2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 135

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 97

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

Predictors split 38

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

All HPSE2 variants

Pathogenic 10

Pathogenic/Likely pathogenic 3

  • p.Arg153Ter Multiple submitters urofacial syndrome type 1
  • p.Arg506Ter Multiple submitters urofacial syndrome type 1
  • p.Asn489fs Multiple submitters HPSE2-related disorders

Likely pathogenic 10

Conflicting classifications of pathogenicity 2

  • c.1320+5G>A Single submitter urofacial syndrome type 1
  • p.Val432= Single submitter urofacial syndrome type 1

Benign 39

Benign/Likely benign 13

Likely benign 49

Uncertain significance 153