Sugi Variant

Sugi Variant/COMP

COMP — 856 ClinVar variants

All ClinVar germline COMP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 334 flagged for review →

55 Pathogenic · 27 Pathogenic/Likely pathogenic · 85 Likely pathogenic · 38 Conflicting · 38 Benign · 20 Benign/Likely benign · 196 Likely benign · 397 Uncertain significance

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

⚑ Evidence disagreements 334

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 2

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

Predictors agree, ClinVar conflicts 19

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

Predictors lean, ClinVar uncertain 172

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 172

Predictors split 141

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

All COMP variants

Pathogenic 55

Pathogenic/Likely pathogenic 27

Likely pathogenic 85

Conflicting classifications of pathogenicity 38

Benign 38

Benign/Likely benign 20

  • c.1255-5C>T Multiple submitters
  • c.1668+13T>A Multiple submitters multiple epiphyseal dysplasia type 1
  • c.218-14C>T Multiple submitters multiple epiphyseal dysplasia type 1
  • c.218-6C>G Multiple submitters pseudoachondroplasia
  • c.2227+18G>A Multiple submitters
  • c.2227+8G>A Multiple submitters connective tissue disorder
  • c.762+12C>A Multiple submitters multiple epiphyseal dysplasia type 1
  • c.-9G>T Multiple submitters multiple epiphyseal dysplasia type 1
  • c.*92G>A Multiple submitters multiple epiphyseal dysplasia type 1
  • p.Ala171Thr Multiple submitters multiple epiphyseal dysplasia type 1
  • p.Arg718= Multiple submitters pseudoachondroplasia
  • p.Asn386Asp Multiple submitters connective tissue disorder
  • p.Asn652= Multiple submitters multiple epiphyseal dysplasia type 1
  • p.Asp496Glu Multiple submitters
  • p.Gln756Arg Multiple submitters multiple epiphyseal dysplasia type 1
  • p.Gly120= Multiple submitters pseudoachondroplasia
  • p.Ile308= Multiple submitters pseudoachondroplasia
  • p.Leu754= Multiple submitters
  • p.Phe137Ser Multiple submitters connective tissue disorder ⚠
  • p.Pro156= Multiple submitters pseudoachondroplasia

Likely benign 196

Uncertain significance 397

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