Sugi Variant

Sugi Variant/EMILIN1

EMILIN1 — 230 ClinVar variants

All ClinVar germline EMILIN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 203 flagged for review →

6 Pathogenic · 1 Likely pathogenic · 5 Conflicting · 9 Benign · 1 Benign/Likely benign · 14 Likely benign · 194 Uncertain significance

Full EMILIN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 203

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 4

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

Predictors lean, ClinVar uncertain 83

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

Predictors split 116

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

All EMILIN1 variants

Pathogenic 6

  • p.Ser40fs Single submitter arterial tortuosity-bone fragility syndrome
  • p.Ala278fs No assertion criteria arterial tortuosity-bone fragility syndrome
  • p.Arg250Cys No assertion criteria neuronopathy, distal hereditary motor, autosomal dominant 10 ⚠
  • p.Arg51fs No assertion criteria Arterial tortuosity
  • p.Gln536Ter No assertion criteria Arterial tortuosity
  • p.Gln828fs No assertion criteria arterial tortuosity-bone fragility syndrome

Likely pathogenic 1

  • p.Arg445Ter Single submitter arterial tortuosity-bone fragility syndrome

Conflicting classifications of pathogenicity 5

Benign 9

Benign/Likely benign 1

Likely benign 14

Uncertain significance 194