Sugi Variant

Sugi Variant/NNT

NNT — 314 ClinVar variants

All ClinVar germline NNT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →

20 Pathogenic · 2 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 2 Conflicting · 22 Benign · 4 Benign/Likely benign · 99 Likely benign · 153 Uncertain significance

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

⚑ Evidence disagreements 146

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 1

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

Predictors lean, ClinVar uncertain 103

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

Predictors split 42

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

All NNT variants

Pathogenic 20

Pathogenic/Likely pathogenic 2

  • p.Leu33fs Multiple submitters NNT-related disorder
  • p.Lys453fs Multiple submitters glucocorticoid deficiency 4

Likely pathogenic 12

Conflicting classifications of pathogenicity 2

Benign 22

Benign/Likely benign 4

Likely benign 99

Uncertain significance 153