Sugi Variant

Sugi Variant/CP

CP — 753 ClinVar variants

All ClinVar germline CP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 326 flagged for review →

68 Pathogenic · 4 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 38 Conflicting · 78 Benign · 20 Benign/Likely benign · 189 Likely benign · 332 Uncertain significance

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

⚑ Evidence disagreements 326

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 3

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

Predictors agree, ClinVar conflicts 10

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

Predictors lean, ClinVar uncertain 136

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 177

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 177

All CP variants

Pathogenic 68

Pathogenic/Likely pathogenic 4

  • c.607+1del Multiple submitters aceruloplasminemia
  • p.Gly650Arg Multiple submitters neurodegeneration with brain iron accumulation
  • p.Leu919Pro Multiple submitters neurodegeneration with brain iron accumulation
  • p.Pro689fs Multiple submitters neurodegeneration with brain iron accumulation

Likely pathogenic 24

Conflicting classifications of pathogenicity 38

Benign 78

Benign/Likely benign 20

Likely benign 189

Uncertain significance 332

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