Sugi Variant

Sugi Variant/CKAP2L

CKAP2L — 258 ClinVar variants

All ClinVar germline CKAP2L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 152 flagged for review →

15 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 4 Conflicting · 32 Benign · 3 Benign/Likely benign · 52 Likely benign · 144 Uncertain significance

Full CKAP2L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 152

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 1

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

Predictors agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 97

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

Predictors split 53

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

All CKAP2L variants

Pathogenic 15

Pathogenic/Likely pathogenic 2

Likely pathogenic 6

Conflicting classifications of pathogenicity 4

Benign 32

Benign/Likely benign 3

Likely benign 52

Uncertain significance 144