Sugi Variant

Sugi Variant/HSD11B2

HSD11B2 — 209 ClinVar variants

All ClinVar germline HSD11B2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 105 flagged for review →

13 Pathogenic · 2 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 6 Conflicting · 5 Benign · 6 Benign/Likely benign · 53 Likely benign · 114 Uncertain significance

Full HSD11B2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 105

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 3

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

Predictors agree, ClinVar conflicts 4

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

Predictors lean, ClinVar uncertain 65

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

Predictors split 33

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

All HSD11B2 variants

Pathogenic 13

Pathogenic/Likely pathogenic 2

Likely pathogenic 10

Conflicting classifications of pathogenicity 6

Benign 5

Benign/Likely benign 6

  • c.664+16dup Multiple submitters apparent mineralocorticoid excess
  • p.Ala196= Multiple submitters apparent mineralocorticoid excess
  • p.Ala59= Multiple submitters
  • p.Glu178= Multiple submitters apparent mineralocorticoid excess
  • p.Pro227= Multiple submitters
  • p.Val273Met Multiple submitters apparent mineralocorticoid excess

Likely benign 53

Uncertain significance 114