Sugi Variant

Sugi Variant/EDNRA

EDNRA — 133 ClinVar variants

All ClinVar germline EDNRA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →

2 Pathogenic · 21 Benign · 4 Benign/Likely benign · 35 Likely benign · 71 Uncertain significance

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

⚑ Evidence disagreements 71

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 43

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

Predictors split 27

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

All EDNRA variants

Pathogenic 2

  • p.Glu303Lys No assertion criteria mandibulofacial dysostosis with alopecia
  • p.Tyr129Phe No assertion criteria mandibulofacial dysostosis with alopecia ⚠

Benign 21

Benign/Likely benign 4

  • c.1034+19G>A Multiple submitters migraine with or without aura, susceptibility to, 1
  • p.Ala8= Multiple submitters mandibulofacial dysostosis with alopecia
  • p.Ser382= Multiple submitters migraine with or without aura, susceptibility to, 1
  • p.Tyr370= Multiple submitters mandibulofacial dysostosis with alopecia

Likely benign 35

Uncertain significance 71