Sugi Variant

Sugi Variant/DLL4

DLL4 — 330 ClinVar variants

All ClinVar germline DLL4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →

14 Pathogenic · 2 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 16 Conflicting · 21 Benign · 5 Benign/Likely benign · 113 Likely benign · 145 Uncertain significance

Full DLL4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 157

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 10

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

Predictors lean, ClinVar uncertain 68

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

Predictors split 78

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

All DLL4 variants

Pathogenic 14

Pathogenic/Likely pathogenic 2

  • p.Cys390Tyr Multiple submitters Adams-Oliver syndrome
  • p.Gln584Ter Multiple submitters Adams-Oliver syndrome 6

Likely pathogenic 14

Conflicting classifications of pathogenicity 16

Benign 21

Benign/Likely benign 5

Likely benign 113

Uncertain significance 145