Sugi Variant

Sugi Variant/DDX11

DDX11 — 433 ClinVar variants

All ClinVar germline DDX11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 195 flagged for review →

12 Pathogenic · 8 Pathogenic/Likely pathogenic · 31 Likely pathogenic · 11 Conflicting · 37 Benign · 14 Benign/Likely benign · 113 Likely benign · 207 Uncertain significance

Full DDX11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 195

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 1

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

Predictors agree, ClinVar conflicts 6

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

Predictors lean, ClinVar uncertain 139

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

Predictors split 49

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

All DDX11 variants

Pathogenic 12

  • c.1763-1G>C Multiple submitters DDX11-related disorders
  • c.1482+2T>C Single submitter Warsaw breakage syndrome
  • c.2373-2A>G Single submitter Warsaw breakage syndrome
  • c.2457+1G>A Single submitter Warsaw breakage syndrome
  • c.2457+1G>T Single submitter Warsaw breakage syndrome
  • p.Gln148Ter Single submitter Warsaw breakage syndrome
  • p.Gln683Ter Single submitter Warsaw breakage syndrome
  • p.Gln737Ter Single submitter Warsaw breakage syndrome
  • p.Glu673Ter Single submitter Warsaw breakage syndrome
  • p.Thr622fs Single submitter Warsaw breakage syndrome
  • c.2271+2T>C No assertion criteria Warsaw breakage syndrome
  • p.Lys897del No assertion criteria Warsaw breakage syndrome

Pathogenic/Likely pathogenic 8

  • c.1949-1G>A Multiple submitters Warsaw breakage syndrome
  • p.Arg263Gln Multiple submitters Warsaw breakage syndrome
  • p.Arg558Ter Multiple submitters Warsaw breakage syndrome
  • p.Arg75Ter Multiple submitters Inborn genetic diseases
  • p.Cys649Ter Multiple submitters Warsaw breakage syndrome
  • p.Gln531Ter Multiple submitters Warsaw breakage syndrome
  • p.Gln744Ter Multiple submitters Warsaw breakage syndrome
  • p.Ser469fs Multiple submitters Warsaw breakage syndrome

Likely pathogenic 31

Conflicting classifications of pathogenicity 11

Benign 37

Benign/Likely benign 14

Likely benign 113

Uncertain significance 207