Sugi Variant

Sugi Variant/CTR9

CTR9 — 750 ClinVar variants

All ClinVar germline CTR9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 334 flagged for review →

1 Pathogenic · 2 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 11 Conflicting · 51 Benign · 12 Benign/Likely benign · 284 Likely benign · 375 Uncertain significance

Full CTR9 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 3

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

Predictors agree, ClinVar conflicts 6

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

Predictors lean, ClinVar uncertain 194

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 194

Predictors split 131

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

All CTR9 variants

Pathogenic 1

  • c.46-1G>T Single submitter CTR9-related neurodevelopmental disorder

Pathogenic/Likely pathogenic 2

  • p.Ile17Thr Multiple submitters neurodevelopmental disorder
  • p.Pro25Arg Multiple submitters CTR9-related neurodevelopmental disorder

Likely pathogenic 14

  • p.Asn455Ser Multiple submitters CTR9-related neurodevelopmental disorder
  • c.1286del Single submitter
  • p.Arg878Gln Single submitter CTR9-related neurodevelopmental disorder ⚠
  • p.Cys85Tyr Single submitter CTR9-related neurodevelopmental disorder
  • p.Glu15Gly Single submitter Inborn genetic diseases
  • p.Glu15Lys Single submitter CTR9-related neurodevelopmental disorder
  • p.Glu26Gln Single submitter CTR9-related neurodevelopmental disorder ⚠
  • p.Glu29Gln Single submitter
  • p.Glu37Gln Single submitter CTR9-related neurodevelopmental disorder
  • p.Glu37Gly Single submitter
  • p.Glu469Lys Single submitter CTR9-related neurodevelopmental disorder
  • p.Ile33Thr Single submitter Inborn genetic diseases ⚠
  • p.Leu19His Single submitter Inborn genetic diseases
  • p.Lys934Arg No assertion criteria ⚠

Conflicting classifications of pathogenicity 11

Benign 51

Benign/Likely benign 12

Likely benign 284

Uncertain significance 375

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