Sugi Variant

Sugi Variant/CUX2

CUX2 — 464 ClinVar variants

All ClinVar germline CUX2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 298 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 11 Conflicting · 15 Benign · 9 Benign/Likely benign · 126 Likely benign · 299 Uncertain significance

Full CUX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 298

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 183

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 183

Predictors split 107

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

All CUX2 variants

Pathogenic 1

  • p.Thr945Met No assertion criteria developmental and epileptic encephalopathy, 67

Pathogenic/Likely pathogenic 1

  • p.Glu590Lys Multiple submitters developmental and epileptic encephalopathy, 67

Likely pathogenic 2

  • p.Lys187fs Single submitter developmental and epileptic encephalopathy, 67
  • p.Pro1089Ser No assertion criteria CUX2-related disorder

Conflicting classifications of pathogenicity 11

Benign 15

Benign/Likely benign 9

  • c.560+3G>A Multiple submitters developmental and epileptic encephalopathy, 67
  • p.Arg163Cys Multiple submitters
  • p.Arg599His Multiple submitters Inborn genetic diseases
  • p.Asn1115= Multiple submitters
  • p.Pro139= Multiple submitters
  • p.Pro834Ala Multiple submitters Inborn genetic diseases
  • p.Pro881= Multiple submitters developmental and epileptic encephalopathy, 67
  • p.Thr343= Multiple submitters developmental and epileptic encephalopathy, 67
  • p.Val27= Multiple submitters developmental and epileptic encephalopathy, 67

Likely benign 126

Uncertain significance 299