Sugi Variant

Sugi Variant/CTSK

CTSK — 429 ClinVar variants

All ClinVar germline CTSK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →

36 Pathogenic · 26 Pathogenic/Likely pathogenic · 63 Likely pathogenic · 9 Conflicting · 16 Benign · 1 Benign/Likely benign · 167 Likely benign · 111 Uncertain significance

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

⚑ Evidence disagreements 98

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 4

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

Predictors agree, ClinVar conflicts 5

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

Predictors lean, ClinVar uncertain 53

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

Predictors split 36

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

All CTSK variants

Pathogenic 36

Pathogenic/Likely pathogenic 26

Likely pathogenic 63

Conflicting classifications of pathogenicity 9

Benign 16

Benign/Likely benign 1

  • p.Arg225= Multiple submitters pycnodysostosis

Likely benign 167

Uncertain significance 111