EDN2 — 29 ClinVar variants
All ClinVar germline EDN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
1 Benign · 3 Likely benign · 25 Uncertain significance
Full EDN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EDN2 p.Ala105Thr Uncertain significance Single submitter
- EDN2 p.Ala39Gly Uncertain significance Single submitter
- EDN2 p.Ala39Val Uncertain significance Single submitter
- EDN2 p.Arg102Lys Uncertain significance Single submitter
- EDN2 p.Arg124Gln Uncertain significance Single submitter
- EDN2 p.Arg166Gln Uncertain significance Single submitter
- EDN2 p.Arg166Trp Uncertain significance Single submitter
- EDN2 p.Arg174Gly Uncertain significance Single submitter
- EDN2 p.Arg88Gln Uncertain significance Single submitter
- EDN2 p.Arg89Cys Uncertain significance Single submitter
- EDN2 p.Asp149Gly Uncertain significance Single submitter
- EDN2 p.Cys98Arg Uncertain significance Single submitter
- EDN2 p.Glu167Asp Uncertain significance Single submitter
- EDN2 p.Gly141Glu Uncertain significance Single submitter
- EDN2 p.Leu92Val Uncertain significance Single submitter
- EDN2 p.Ser151Tyr Uncertain significance Single submitter
- EDN2 p.Thr139Ser Uncertain significance Single submitter
- EDN2 p.Val17Met Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- EDN2 p.Ala26Pro Uncertain significance Single submitter
- EDN2 p.Arg124Trp Uncertain significance Single submitter
- EDN2 p.Arg169Gln Uncertain significance Single submitter
- EDN2 p.Arg90His Uncertain significance Single submitter
- EDN2 p.Arg95His Uncertain significance Single submitter
- EDN2 p.Thr42Ile Uncertain significance Single submitter
- EDN2 p.Val130Met Uncertain significance Single submitter
- EDN2 p.Val4Met Likely benign Single submitter
All EDN2 variants
Benign 1
- c.345-4G>A Multiple submitters
Likely benign 3
- p.Gly119Arg Single submitter
- p.Thr133Ala Single submitter
- p.Val4Met Single submitter ⚠
Uncertain significance 25
- p.Ala105Thr Single submitter ⚠
- p.Ala26Pro Single submitter ⚠
- p.Ala39Gly Single submitter ⚠
- p.Ala39Val Single submitter ⚠
- p.Arg102Lys Single submitter ⚠
- p.Arg124Gln Single submitter ⚠
- p.Arg124Trp Single submitter ⚠
- p.Arg166Gln Single submitter ⚠
- p.Arg166Trp Single submitter ⚠
- p.Arg169Gln Single submitter ⚠
- p.Arg174Gly Single submitter ⚠
- p.Arg88Gln Single submitter ⚠
- p.Arg89Cys Single submitter ⚠
- p.Arg90His Single submitter ⚠
- p.Arg95His Single submitter ⚠
- p.Asp149Gly Single submitter ⚠
- p.Cys98Arg Single submitter ⚠
- p.Glu167Asp Single submitter ⚠
- p.Gly141Glu Single submitter ⚠
- p.Leu92Val Single submitter ⚠
- p.Ser151Tyr Single submitter ⚠
- p.Thr139Ser Single submitter ⚠
- p.Thr42Ile Single submitter ⚠
- p.Val130Met Single submitter ⚠
- p.Val17Met Single submitter ⚠