Sugi Variant

Sugi Variant/EMX2

EMX2 — 57 ClinVar variants

All ClinVar germline EMX2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →

5 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 1 Benign · 3 Benign/Likely benign · 12 Likely benign · 33 Uncertain significance

Full EMX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 31

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 1

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

Predictors lean, ClinVar uncertain 15

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

Predictors split 15

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

All EMX2 variants

Pathogenic 5

  • p.Ser111Ter Single submitter congenital hypogonadotropic hypogonadism
  • c.407-1G>A No assertion criteria schizencephaly
  • c.407-4G>T No assertion criteria schizencephaly
  • p.Gly136Val No assertion criteria schizencephaly
  • p.Ser192fs No assertion criteria schizencephaly

Likely pathogenic 1

  • p.Lys199Gln Single submitter congenital hypogonadotropic hypogonadism

Conflicting classifications of pathogenicity 2

  • p.Ala59dup Single submitter Inborn genetic diseases
  • p.Gly218Asp Single submitter congenital hypogonadotropic hypogonadism ⚠

Benign 1

Benign/Likely benign 3

Likely benign 12

Uncertain significance 33