Sugi Variant

Sugi Variant/H6PD

H6PD — 318 ClinVar variants

All ClinVar germline H6PD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 187 flagged for review →

6 Pathogenic · 2 Likely pathogenic · 9 Conflicting · 36 Benign · 7 Benign/Likely benign · 77 Likely benign · 181 Uncertain significance

Full H6PD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 187

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 7

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

Predictors lean, ClinVar uncertain 113

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

Predictors split 67

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

All H6PD variants

Pathogenic 6

Likely pathogenic 2

  • p.Arg551Ter Single submitter cortisone reductase deficiency 1
  • p.Leu372fs Single submitter cortisone reductase deficiency 1

Conflicting classifications of pathogenicity 9

Benign 36

Benign/Likely benign 7

Likely benign 77

Uncertain significance 181