Sugi Variant

Sugi Variant/COL9A1

COL9A1 — 1510 ClinVar variants

All ClinVar germline COL9A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 500 flagged for review →

46 Pathogenic · 12 Pathogenic/Likely pathogenic · 43 Likely pathogenic · 53 Conflicting · 151 Benign · 33 Benign/Likely benign · 621 Likely benign · 551 Uncertain significance

Full COL9A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 500

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 28

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

Predictors lean, ClinVar uncertain 361

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 361

Predictors split 111

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

All COL9A1 variants

Pathogenic 46

Pathogenic/Likely pathogenic 12

  • p.Ala788fs Multiple submitters COL9A1-related disorder
  • p.Arg258fs Multiple submitters COL9A1-related disorder
  • p.Arg471Ter Multiple submitters COL9A1-related disorder
  • p.Cys4fs Multiple submitters connective tissue disorder
  • p.Gln750Ter Multiple submitters COL9A1-related disorder
  • p.Glu374Ter Multiple submitters COL9A1-related disorder
  • p.Lys139Ter Multiple submitters COL9A1-related disorder
  • p.Phe57fs Multiple submitters
  • p.Pro304fs Multiple submitters epiphyseal dysplasia, multiple, 6
  • p.Pro306fs Multiple submitters
  • p.Pro393fs Multiple submitters COL9A1-related disorder
  • p.Trp5Ter Multiple submitters COL9A1-related disorder

Likely pathogenic 43

Conflicting classifications of pathogenicity 53

Benign 151

Benign/Likely benign 33

Likely benign 621

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

Uncertain significance 551

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