Sugi Variant

Sugi Variant/HYOU1

HYOU1 — 823 ClinVar variants

All ClinVar germline HYOU1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 411 flagged for review →

3 Pathogenic · 12 Conflicting · 16 Benign · 13 Benign/Likely benign · 266 Likely benign · 513 Uncertain significance

Full HYOU1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 411

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 5

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

Predictors lean, ClinVar uncertain 311

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 311

Predictors split 95

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

All HYOU1 variants

Pathogenic 3

  • p.Pro444His No assertion criteria granulocytopenia with immunoglobulin abnormality
  • p.Pro757_Glu758insAla No assertion criteria granulocytopenia with immunoglobulin abnormality
  • p.Tyr231His No assertion criteria granulocytopenia with immunoglobulin abnormality

Conflicting classifications of pathogenicity 12

Benign 16

Benign/Likely benign 13

Likely benign 266

Uncertain significance 513

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