Sugi Variant

Sugi Variant/ARID2

ARID2 — 536 ClinVar variants

All ClinVar germline ARID2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 289 flagged for review →

67 Pathogenic · 2 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 7 Conflicting · 20 Benign · 10 Benign/Likely benign · 111 Likely benign · 284 Uncertain significance

Full ARID2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 289

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 2

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

Predictors lean, ClinVar uncertain 175

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 175

Predictors split 112

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

All ARID2 variants

Pathogenic 67

Pathogenic/Likely pathogenic 2

  • p.Arg274Ter Multiple submitters ARID2-related BAFopathy
  • p.Gln134fs Multiple submitters Coffin-Siris syndrome 6

Likely pathogenic 35

Conflicting classifications of pathogenicity 7

Benign 20

Benign/Likely benign 10

Likely benign 111

Uncertain significance 284