EDA2R — 41 ClinVar variants
All ClinVar germline EDA2R variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
1 Likely pathogenic · 1 Conflicting · 4 Benign · 10 Likely benign · 25 Uncertain significance
Full EDA2R gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EDA2R p.Ala119Val Uncertain significance Single submitter
- EDA2R p.Arg14Gln Uncertain significance Single submitter
- EDA2R p.Cys15Tyr Uncertain significance Single submitter
- EDA2R p.Cys162Gly Uncertain significance Single submitter
- EDA2R p.Cys58Tyr Uncertain significance Single submitter
- EDA2R p.Glu186Lys Uncertain significance Single submitter
- EDA2R p.Glu201Gly Uncertain significance Single submitter
- EDA2R p.Gly275Glu Uncertain significance Single submitter
- EDA2R p.Leu160Phe Uncertain significance Single submitter
- EDA2R p.Phe209Val Uncertain significance Single submitter
- EDA2R p.Pro229Ser Uncertain significance Single submitter
- EDA2R p.Ser243Asn Uncertain significance Single submitter
- EDA2R p.Val125Leu Uncertain significance Single submitter
- EDA2R p.Val279Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- EDA2R p.Pro112Ser Likely benign Multiple submitters
- EDA2R p.Arg47Cys Uncertain significance Single submitter
- EDA2R p.Arg92Gln Likely benign Single submitter
- EDA2R p.Arg95Cys Uncertain significance Single submitter
- EDA2R p.Gln110Pro Uncertain significance Single submitter
- EDA2R p.Glu219Lys Uncertain significance Single submitter
- EDA2R p.Leu214Phe Uncertain significance Single submitter
- EDA2R p.Pro45Leu Uncertain significance Single submitter
- EDA2R p.Ser202Phe Uncertain significance Single submitter
- EDA2R p.Ser224Leu Uncertain significance Single submitter
- EDA2R p.Ser238Tyr Uncertain significance Single submitter
- EDA2R p.Thr78Pro Uncertain significance Single submitter
- EDA2R p.Val192Met Likely benign Single submitter
All EDA2R variants
Likely pathogenic 1
- p.Asn207fs Single submitter tooth agenesis
Conflicting classifications of pathogenicity 1
- p.Gly275Trp Single submitter ⚠
Benign 4
Likely benign 10
- p.Pro112Ser Multiple submitters ⚠
- c.*97A>T Single submitter
- p.Arg20Gln Single submitter
- p.Arg92Gln Single submitter ⚠
- p.Asp220= Single submitter
- p.Glu126= Single submitter
- p.Gly275Arg Single submitter
- p.Pro45= Single submitter
- p.Ser224= Single submitter
- p.Val192Met Single submitter ⚠
Uncertain significance 25
- p.Ala119Val Single submitter ⚠
- p.Arg14Gln Single submitter ⚠
- p.Arg47Cys Single submitter ⚠
- p.Arg95Cys Single submitter ⚠
- p.Cys15Tyr Single submitter ⚠
- p.Cys162Gly Single submitter ⚠
- p.Cys58Tyr Single submitter ⚠
- p.Gln110Pro Single submitter ⚠
- p.Glu186Lys Single submitter ⚠
- p.Glu201Gly Single submitter ⚠
- p.Glu219Lys Single submitter ⚠
- p.Gly275Glu Single submitter ⚠
- p.Leu160Phe Single submitter ⚠
- p.Leu214Phe Single submitter ⚠
- p.Phe209Val Single submitter ⚠
- p.Pro229Ser Single submitter ⚠
- p.Pro45Leu Single submitter ⚠
- p.Ser202Phe Single submitter ⚠
- p.Ser224Leu Single submitter ⚠
- p.Ser238Tyr Single submitter ⚠
- p.Ser243Asn Single submitter ⚠
- p.Thr78Pro Single submitter ⚠
- p.Val125Leu Single submitter ⚠
- p.Val279Ile Single submitter ⚠
- p.Asp85fs No assertion criteria X-linked hypohidrotic ectodermal dysplasia