Sugi Variant

Sugi Variant/NOG

NOG — 251 ClinVar variants

All ClinVar germline NOG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 123 flagged for review →

32 Pathogenic · 4 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 6 Conflicting · 7 Benign · 3 Benign/Likely benign · 36 Likely benign · 143 Uncertain significance

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

⚑ Evidence disagreements 123

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 70

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

Predictors split 49

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

All NOG variants

Pathogenic 32

Pathogenic/Likely pathogenic 4

  • p.Glu127Ter Multiple submitters brachydactyly type B2
  • p.Pro35Arg Multiple submitters tarsal-carpal coalition syndrome ⚠
  • p.Trp205Gly Multiple submitters NOG-related disorder
  • p.Tyr222Cys Multiple submitters tarsal-carpal coalition syndrome

Likely pathogenic 20

Conflicting classifications of pathogenicity 6

Benign 7

Benign/Likely benign 3

Likely benign 36

Uncertain significance 143