Sugi Variant

Sugi Variant/HSD11B1

HSD11B1 — 34 ClinVar variants

All ClinVar germline HSD11B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →

2 Pathogenic · 1 Conflicting · 5 Benign · 1 Benign/Likely benign · 4 Likely benign · 21 Uncertain significance

Full HSD11B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 19

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 14

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

Predictors split 3

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

All HSD11B1 variants

Pathogenic 2

  • p.Arg137Cys No assertion criteria cortisone reductase deficiency 2 ⚠
  • p.Lys187Asn No assertion criteria cortisone reductase deficiency 2

Conflicting classifications of pathogenicity 1

Benign 5

  • c.332-29T>G Multiple submitters cortisone reductase deficiency 2
  • p.Val39= Multiple submitters
  • c.331+53dup Single submitter cortisone reductase deficiency 2
  • c.518-9G>A Single submitter
  • p.Ala55= No assertion criteria HSD11B1-related disorder

Benign/Likely benign 1

Likely benign 4

Uncertain significance 21