Sugi Variant

Sugi Variant/CTNS

CTNS — 850 ClinVar variants

All ClinVar germline CTNS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 180 flagged for review →

76 Pathogenic · 33 Pathogenic/Likely pathogenic · 73 Likely pathogenic · 33 Conflicting · 68 Benign · 6 Benign/Likely benign · 308 Likely benign · 253 Uncertain significance

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

⚑ Evidence disagreements 180

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 10

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

Predictors lean, ClinVar uncertain 83

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

Predictors split 82

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

All CTNS variants

Pathogenic 76

Pathogenic/Likely pathogenic 33

Likely pathogenic 73

Conflicting classifications of pathogenicity 33

Benign 68

Benign/Likely benign 6

  • c.462-7C>A Multiple submitters ocular cystinosis
  • p.Ala172= Multiple submitters ocular cystinosis
  • p.Asn36= Multiple submitters ocular cystinosis
  • p.Leu274= Multiple submitters ocular cystinosis
  • p.Thr109= Multiple submitters nephropathic cystinosis
  • p.Val42Ile Multiple submitters cystinosis ⚠

Likely benign 308

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

Uncertain significance 253