Sugi Variant

Sugi Variant/COL9A2

COL9A2 — 1266 ClinVar variants

All ClinVar germline COL9A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 499 flagged for review →

31 Pathogenic · 4 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 50 Conflicting · 75 Benign · 20 Benign/Likely benign · 500 Likely benign · 567 Uncertain significance

Full COL9A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 499

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 11

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

Predictors lean, ClinVar uncertain 258

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 258

Predictors split 230

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 230

All COL9A2 variants

Pathogenic 31

Pathogenic/Likely pathogenic 4

  • c.186+1G>A Multiple submitters epiphyseal dysplasia, multiple, 2
  • p.Arg504Ter Multiple submitters Stickler syndrome
  • p.Asn503fs Multiple submitters Stickler syndrome, type 5
  • p.Gly415fs Multiple submitters epiphyseal dysplasia, multiple, 2

Likely pathogenic 19

Conflicting classifications of pathogenicity 50

Benign 75

Benign/Likely benign 20

Likely benign 500

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 567

Showing the top 300 by review status; the full set is in the sitemap.