Sugi Variant

Sugi Variant/EML1

EML1 — 237 ClinVar variants

All ClinVar germline EML1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →

7 Pathogenic · 3 Likely pathogenic · 52 Benign · 1 Benign/Likely benign · 73 Likely benign · 101 Uncertain significance

Full EML1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 96

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 lean, ClinVar uncertain 53

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

Predictors split 43

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

All EML1 variants

Pathogenic 7

Likely pathogenic 3

  • p.Arg633Ter Single submitter band heterotopia of brain
  • p.Gln46Ter Single submitter band heterotopia of brain
  • p.Thr243Ala Single submitter band heterotopia of brain

Benign 52

Benign/Likely benign 1

Likely benign 73

Uncertain significance 101