Sugi Variant

Sugi Variant/SOX9

SOX9 — 395 ClinVar variants

All ClinVar germline SOX9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 142 flagged for review →

56 Pathogenic · 9 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 21 Conflicting · 14 Benign · 9 Benign/Likely benign · 97 Likely benign · 154 Uncertain significance

Full SOX9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 142

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 10

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

Predictors lean, ClinVar uncertain 82

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

Predictors split 50

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

All SOX9 variants

Pathogenic 56

Pathogenic/Likely pathogenic 9

Likely pathogenic 35

Conflicting classifications of pathogenicity 21

Benign 14

Benign/Likely benign 9

  • c.685+8G>A Multiple submitters connective tissue disorder
  • p.Arg160= Multiple submitters campomelic dysplasia
  • p.Asp168= Multiple submitters campomelic dysplasia
  • p.His169= Multiple submitters connective tissue disorder
  • p.Pro345Ser Multiple submitters campomelic dysplasia ⚠
  • p.Pro346dup Multiple submitters campomelic dysplasia
  • p.Pro354_Pro356del Multiple submitters campomelic dysplasia
  • p.Ser219= Multiple submitters campomelic dysplasia
  • p.Tyr440= Multiple submitters campomelic dysplasia

Likely benign 97

Uncertain significance 154