REL — 259 ClinVar variants

All ClinVar germline REL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →

6 Pathogenic · 1 Likely pathogenic · 5 Conflicting · 6 Benign · 10 Benign/Likely benign · 145 Likely benign · 86 Uncertain significance

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

⚑ Evidence disagreements 84

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 agree, ClinVar conflicts 4

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

Predictors lean, ClinVar uncertain 74

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

All REL variants

Pathogenic 6

Likely pathogenic 1

Conflicting classifications of pathogenicity 5

Benign 6

Benign/Likely benign 10

Likely benign 145

Uncertain significance 86