BCORL1 — 458 ClinVar variants

All ClinVar germline BCORL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 332 flagged for review →

3 Pathogenic · 4 Likely pathogenic · 4 Conflicting · 13 Benign · 3 Benign/Likely benign · 69 Likely benign · 362 Uncertain significance

Full BCORL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 332

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 1

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

Predictors lean, ClinVar uncertain 227

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 227

Predictors split 100

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

All BCORL1 variants

Pathogenic 3

Likely pathogenic 4

Conflicting classifications of pathogenicity 4

Benign 13

Benign/Likely benign 3

Likely benign 69

Uncertain significance 362

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