Sugi Variant

Sugi Variant/ELMO2

ELMO2 — 103 ClinVar variants

All ClinVar germline ELMO2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →

4 Pathogenic · 3 Likely pathogenic · 19 Benign · 2 Benign/Likely benign · 15 Likely benign · 60 Uncertain significance

Full ELMO2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 58

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 40

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

Predictors split 18

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

All ELMO2 variants

Pathogenic 4

  • c.1065+1G>T Single submitter primary intraosseous venous malformation
  • p.Met104fs Single submitter primary intraosseous venous malformation
  • c.1065+1G>A No assertion criteria primary intraosseous venous malformation
  • p.Leu694fs No assertion criteria primary intraosseous venous malformation

Likely pathogenic 3

  • c.1802-1G>C Single submitter primary intraosseous venous malformation
  • p.Arg483Ter Single submitter primary intraosseous venous malformation
  • p.Arg509Ter Single submitter primary intraosseous venous malformation

Benign 19

Benign/Likely benign 2

  • c.1279+19del Multiple submitters primary intraosseous venous malformation
  • p.Leu378= Multiple submitters primary intraosseous venous malformation

Likely benign 15

Uncertain significance 60