Sugi Variant

Sugi Variant/COL18A1

COL18A1 — 3124 ClinVar variants

All ClinVar germline COL18A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1018 flagged for review →

114 Pathogenic · 18 Pathogenic/Likely pathogenic · 72 Likely pathogenic · 132 Conflicting · 216 Benign · 92 Benign/Likely benign · 1279 Likely benign · 1201 Uncertain significance

Full COL18A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1018

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 60

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

Predictors lean, ClinVar uncertain 744

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 744

Predictors split 214

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 214

All COL18A1 variants

Pathogenic 114

Pathogenic/Likely pathogenic 18

  • c.2577+1G>A Multiple submitters Knobloch syndrome 1
  • p.Ala211fs Multiple submitters COL18A1-related disorder
  • p.Arg1081Ter Multiple submitters Knobloch syndrome
  • p.Arg1150Ter Multiple submitters COL18A1-related disorder
  • p.Arg332fs Multiple submitters hereditary glaucoma, primary closed-angle
  • p.Arg915Ter Multiple submitters Knobloch syndrome 1
  • p.Gln230fs Multiple submitters COL18A1-related disorder
  • p.Gln780Ter Multiple submitters
  • p.Glu926fs Multiple submitters COL18A1-related disorder
  • p.Gly1019fs Multiple submitters COL18A1-related disorder
  • p.Gly598fs Multiple submitters Knobloch syndrome 1
  • p.Gly942fs Multiple submitters COL18A1-related disorder
  • p.Gly994fs Multiple submitters COL18A1-related disorder
  • p.Ile1182fs Multiple submitters COL18A1-related disorder
  • p.Pro1015fs Multiple submitters COL18A1-related disorder
  • p.Pro314fs Multiple submitters COL18A1-related disorder
  • p.Pro534fs Multiple submitters
  • p.Pro841fs Multiple submitters COL18A1-related disorder

Likely pathogenic 72

Conflicting classifications of pathogenicity 132

Benign 216

Benign/Likely benign 92

Likely benign 1279

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

Uncertain significance 1201

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