Sugi Variant

Sugi Variant/NOP56

NOP56 — 112 ClinVar variants

All ClinVar germline NOP56 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →

1 Likely pathogenic · 4 Conflicting · 10 Benign · 19 Likely benign · 78 Uncertain significance

Full NOP56 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 82

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 4

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

Predictors lean, ClinVar uncertain 60

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

Predictors split 18

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

All NOP56 variants

Likely pathogenic 1

  • p.Ala303= No assertion criteria spinocerebellar ataxia type 36

Conflicting classifications of pathogenicity 4

Benign 10

Likely benign 19

Uncertain significance 78