Sugi Variant

Sugi Variant/ELFN1

ELFN1 — 201 ClinVar variants

All ClinVar germline ELFN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 165 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Conflicting · 13 Benign · 1 Benign/Likely benign · 18 Likely benign · 162 Uncertain significance

Full ELFN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 165

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 109

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

Predictors split 55

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

All ELFN1 variants

Pathogenic 4

  • p.Ile43fs No assertion criteria Dursun-Ozgul neurodevelopmental syndrome
  • p.Pro50His No assertion criteria Dursun-Ozgul neurodevelopmental syndrome
  • p.Val159del No assertion criteria Dursun-Ozgul neurodevelopmental syndrome
  • p.Val591fs No assertion criteria Dursun-Ozgul neurodevelopmental syndrome

Pathogenic/Likely pathogenic 1

  • p.Ala15fs No assertion criteria Dursun-Ozgul neurodevelopmental syndrome

Conflicting classifications of pathogenicity 2

Benign 13

Benign/Likely benign 1

Likely benign 18

Uncertain significance 162