EFNB3 — 39 ClinVar variants
All ClinVar germline EFNB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
1 Benign · 38 Uncertain significance
Full EFNB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EFNB3 p.Ala192Ser Uncertain significance Single submitter
- EFNB3 p.Ala216Thr Uncertain significance Single submitter
- EFNB3 p.Ala302Thr Uncertain significance Single submitter
- EFNB3 p.Ala65Thr Uncertain significance Single submitter
- EFNB3 p.Ala97Ser Uncertain significance Single submitter
- EFNB3 p.Arg130Cys Uncertain significance Single submitter
- EFNB3 p.Arg145Gln Uncertain significance Single submitter
- EFNB3 p.Arg172Gln Uncertain significance Single submitter
- EFNB3 p.Arg214Gln Uncertain significance Single submitter
- EFNB3 p.Arg286Gln Uncertain significance Single submitter
- EFNB3 p.Arg66Gly Uncertain significance Single submitter
- EFNB3 p.Arg91Leu Uncertain significance Single submitter
- EFNB3 p.Asp206Asn Uncertain significance Single submitter
- EFNB3 p.Gly10Ala Uncertain significance Single submitter
- EFNB3 p.Gly174Glu Uncertain significance Single submitter
- EFNB3 p.Gly241Ser Uncertain significance Single submitter
- EFNB3 p.Gly281Asp Uncertain significance Single submitter
- EFNB3 p.Gly2Glu Uncertain significance Single submitter
- EFNB3 p.Gly301Arg Uncertain significance Single submitter
- EFNB3 p.Gly328Val Uncertain significance Single submitter
- EFNB3 p.Gly85Arg Uncertain significance Single submitter
- EFNB3 p.Gly9Glu Uncertain significance Single submitter
- EFNB3 p.His320Arg Uncertain significance Single submitter
- EFNB3 p.His5Tyr Uncertain significance Single submitter
- EFNB3 p.Lys179Ile Uncertain significance Single submitter
- EFNB3 p.Pro207Leu Uncertain significance Single submitter
- EFNB3 p.Pro222Thr Uncertain significance Single submitter
- EFNB3 p.Pro258Ala Uncertain significance Single submitter
- EFNB3 p.Pro309Leu Uncertain significance Single submitter
- EFNB3 p.Pro3Leu Uncertain significance Single submitter
- EFNB3 p.Ser141Ala Uncertain significance Single submitter
- EFNB3 p.Ser259Leu Uncertain significance Single submitter
- EFNB3 p.Ser261Gly Uncertain significance Single submitter
- EFNB3 p.Val242Met Uncertain significance Single submitter
- EFNB3 p.Val314Leu Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All EFNB3 variants
Benign 1
- p.Gly174Ala Multiple submitters
Uncertain significance 38
- p.Ala192Ser Single submitter ⚠
- p.Ala216Thr Single submitter ⚠
- p.Ala302Thr Single submitter ⚠
- p.Ala65Thr Single submitter ⚠
- p.Ala97Ser Single submitter ⚠
- p.Arg130Cys Single submitter ⚠
- p.Arg130His Single submitter ⚠
- p.Arg145Gln Single submitter ⚠
- p.Arg172Gln Single submitter ⚠
- p.Arg214Gln Single submitter ⚠
- p.Arg286Gln Single submitter ⚠
- p.Arg66Gly Single submitter ⚠
- p.Arg91Leu Single submitter ⚠
- p.Asp206Asn Single submitter ⚠
- p.Gly10Ala Single submitter ⚠
- p.Gly14Arg Single submitter
- p.Gly174Glu Single submitter ⚠
- p.Gly241Ser Single submitter ⚠
- p.Gly281Asp Single submitter ⚠
- p.Gly2Glu Single submitter ⚠
- p.Gly301Arg Single submitter ⚠
- p.Gly328Val Single submitter ⚠
- p.Gly85Arg Single submitter ⚠
- p.Gly9Glu Single submitter ⚠
- p.His320Arg Single submitter ⚠
- p.His5Tyr Single submitter ⚠
- p.Lys179Ile Single submitter ⚠
- p.Pro207Leu Single submitter ⚠
- p.Pro222Thr Single submitter ⚠
- p.Pro258Ala Single submitter ⚠
- p.Pro309Leu Single submitter ⚠
- p.Pro329Leu Single submitter ⚠
- p.Pro3Leu Single submitter ⚠
- p.Ser141Ala Single submitter ⚠
- p.Ser259Leu Single submitter ⚠
- p.Ser261Gly Single submitter ⚠
- p.Val242Met Single submitter ⚠
- p.Val314Leu Single submitter ⚠