Sugi Variant

Sugi Variant/ARID1B

ARID1B — 2778 ClinVar variants

All ClinVar germline ARID1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 678 flagged for review →

398 Pathogenic · 26 Pathogenic/Likely pathogenic · 155 Likely pathogenic · 195 Conflicting · 123 Benign · 133 Benign/Likely benign · 801 Likely benign · 947 Uncertain significance

Full ARID1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 678

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 2

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

Predictors agree, ClinVar conflicts 104

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

Predicted LoF vs a conflicting call 4

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 397

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 397

Predictors split 171

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 171

All ARID1B variants

Pathogenic 398

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

Pathogenic/Likely pathogenic 26

Likely pathogenic 155

Conflicting classifications of pathogenicity 195

Benign 123

Benign/Likely benign 133

Likely benign 801

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

Uncertain significance 947

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