Sugi Variant

Sugi Variant/NUP93

NUP93 — 336 ClinVar variants

All ClinVar germline NUP93 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 132 flagged for review →

6 Pathogenic · 2 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 3 Conflicting · 40 Benign · 14 Benign/Likely benign · 115 Likely benign · 144 Uncertain significance

Full NUP93 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 132

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 2

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 105

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

Predictors split 24

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

All NUP93 variants

Pathogenic 6

Pathogenic/Likely pathogenic 2

  • p.Gly591Val Multiple submitters NUP93-related disorder
  • p.Tyr629Cys No assertion criteria nephrotic syndrome, type 12

Likely pathogenic 12

Conflicting classifications of pathogenicity 3

Benign 40

Benign/Likely benign 14

Likely benign 115

Uncertain significance 144