EFNB2 — 34 ClinVar variants
All ClinVar germline EFNB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
1 Likely pathogenic · 1 Benign · 6 Likely benign · 26 Uncertain significance
Full EFNB2 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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EFNB2 p.Ala157Thr Uncertain significance Single submitter
- EFNB2 p.Ala296Ser Uncertain significance Single submitter
- EFNB2 p.Arg156Lys Uncertain significance Single submitter
- EFNB2 p.Arg5Gly Uncertain significance Single submitter
- EFNB2 p.Asp6Asn Uncertain significance Single submitter
-
EFNB2 p.Cys301Tyr
Uncertain significance
Single submitter
EFNB2-related neurodevelopmental disorder
- EFNB2 p.Gly210Ser Uncertain significance Single submitter
- EFNB2 p.Gly309Arg Uncertain significance Single submitter
- EFNB2 p.His215Tyr Uncertain significance Single submitter
- EFNB2 p.Ile220Val Uncertain significance Single submitter
- EFNB2 p.Pro179Ala Uncertain significance Single submitter
- EFNB2 p.Pro314Leu Uncertain significance Single submitter
- EFNB2 p.Ser207Gly Uncertain significance Single submitter
- EFNB2 p.Thr265Asn Uncertain significance Single submitter
- EFNB2 p.Val70Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- EFNB2 p.Arg182His Uncertain significance Single submitter
- EFNB2 p.Arg253Gln Uncertain significance Single submitter
- EFNB2 p.Arg253Trp Uncertain significance Single submitter
- EFNB2 p.Arg277Cys Uncertain significance Single submitter
- EFNB2 p.Asp146Asn Uncertain significance Single submitter
- EFNB2 p.Gln46Arg Uncertain significance Single submitter
- EFNB2 p.Ile108Thr Uncertain significance Single submitter
- EFNB2 p.Ile91Val Uncertain significance Single submitter
- EFNB2 p.Ser194Ala Uncertain significance Single submitter
- EFNB2 p.Ser216Leu Uncertain significance Single submitter
- EFNB2 p.Ser268Leu Uncertain significance Single submitter
All EFNB2 variants
Likely pathogenic 1
- p.Tyr73Ter Single submitter
Benign 1
- p.Ser260= No assertion criteria EFNB2-related disorder
Likely benign 6
- c.406+8T>A Single submitter
- p.Thr266= Single submitter
- c.614-8G>A No assertion criteria EFNB2-related disorder
- p.Leu221= No assertion criteria EFNB2-related disorder
- p.Pro261= No assertion criteria EFNB2-related disorder
- p.Ser38= No assertion criteria EFNB2-related disorder
Uncertain significance 26
- p.Ala157Thr Single submitter ⚠
- p.Ala296Ser Single submitter ⚠
- p.Arg156Lys Single submitter ⚠
- p.Arg182His Single submitter ⚠
- p.Arg253Gln Single submitter ⚠
- p.Arg253Trp Single submitter ⚠
- p.Arg277Cys Single submitter ⚠
- p.Arg5Gly Single submitter ⚠
- p.Asp146Asn Single submitter ⚠
- p.Asp6Asn Single submitter ⚠
- p.Cys301Tyr Single submitter EFNB2-related neurodevelopmental disorder ⚠
- p.Gln46Arg Single submitter ⚠
- p.Gly210Ser Single submitter ⚠
- p.Gly309Arg Single submitter ⚠
- p.His215Tyr Single submitter ⚠
- p.Ile108Thr Single submitter ⚠
- p.Ile220Val Single submitter ⚠
- p.Ile91Val Single submitter ⚠
- p.Pro179Ala Single submitter ⚠
- p.Pro314Leu Single submitter ⚠
- p.Ser194Ala Single submitter ⚠
- p.Ser207Gly Single submitter ⚠
- p.Ser216Leu Single submitter ⚠
- p.Ser268Leu Single submitter ⚠
- p.Thr265Asn Single submitter ⚠
- p.Val70Ile Single submitter ⚠