Sugi Variant

Sugi Variant/RAD21

RAD21 — 520 ClinVar variants

All ClinVar germline RAD21 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 188 flagged for review →

37 Pathogenic · 4 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 16 Conflicting · 50 Benign · 18 Benign/Likely benign · 168 Likely benign · 208 Uncertain significance

Full RAD21 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 188

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 8

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

Predictors lean, ClinVar uncertain 153

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 153

Predictors split 27

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

All RAD21 variants

Pathogenic 37

Pathogenic/Likely pathogenic 4

  • p.Arg478Ter Multiple submitters Cornelia de Lange syndrome 4
  • p.Arg65Ter Multiple submitters Cornelia de Lange syndrome 4
  • p.Gln436Ter Multiple submitters Cornelia de Lange syndrome 4
  • p.Gln592del Multiple submitters Cornelia de Lange syndrome 4

Likely pathogenic 19

Conflicting classifications of pathogenicity 16

Benign 50

Benign/Likely benign 18

Likely benign 168

Uncertain significance 208