CABLES1 — 118 ClinVar variants

All ClinVar germline CABLES1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 109 flagged for review →

1 Conflicting · 6 Likely benign · 111 Uncertain significance

Full CABLES1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 109

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 lean, ClinVar uncertain 88

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

All CABLES1 variants

Conflicting classifications of pathogenicity 1

Likely benign 6

Uncertain significance 111