Sugi Variant

Sugi Variant/COL11A2

COL11A2 — 3039 ClinVar variants

All ClinVar germline COL11A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1099 flagged for review →

104 Pathogenic · 19 Pathogenic/Likely pathogenic · 70 Likely pathogenic · 298 Conflicting · 121 Benign · 49 Benign/Likely benign · 1391 Likely benign · 987 Uncertain significance

Full COL11A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1099

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 vs ClinVar 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 86

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

Predictors lean, ClinVar uncertain 445

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 445

Predictors split 563

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 563

All COL11A2 variants

Pathogenic 104

Pathogenic/Likely pathogenic 19

  • p.Arg1020Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 53
  • p.Arg1034Cys Multiple submitters Rare genetic deafness ⚠
  • p.Arg1293Ter Multiple submitters oculodentodigital dysplasia, autosomal recessive
  • p.Arg1320Ter Multiple submitters
  • p.Arg1379Ter Multiple submitters Inborn genetic diseases
  • p.Arg1600Ter Multiple submitters fibrochondrogenesis 2
  • p.Arg170Ter Multiple submitters
  • p.Arg177Ter Multiple submitters
  • p.Arg379Ter Multiple submitters otospondylomegaepiphyseal dysplasia, autosomal dominant
  • p.Arg433Ter Multiple submitters autosomal dominant nonsyndromic hearing loss 13
  • p.Arg536Ter Multiple submitters
  • p.Arg627Ter Multiple submitters
  • p.Arg852Ter Multiple submitters COL11A2-related disorder
  • p.Gly1111fs Multiple submitters fibrochondrogenesis 2
  • p.Gly1129Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 53
  • p.Gly1279fs Multiple submitters otospondylomegaepiphyseal dysplasia, autosomal recessive
  • p.Gly694fs Multiple submitters otospondylomegaepiphyseal dysplasia, autosomal recessive
  • p.Pro340_Glu341insTer Multiple submitters
  • p.Pro897fs Multiple submitters otospondylomegaepiphyseal dysplasia, autosomal dominant

Likely pathogenic 70

Conflicting classifications of pathogenicity 298

Benign 121

Benign/Likely benign 49

Likely benign 1391

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

Uncertain significance 987

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