EPHB2 — 151 ClinVar variants
All ClinVar germline EPHB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
2 Pathogenic · 14 Benign · 43 Likely benign · 92 Uncertain significance
Full EPHB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
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 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EPHB2 p.Ala31Thr Uncertain significance Single submitter
- EPHB2 p.Ala731Thr Uncertain significance Single submitter
- EPHB2 p.Ala732Val Uncertain significance Single submitter
- EPHB2 p.Ala854Thr Uncertain significance Single submitter
- EPHB2 p.Ala935Thr Uncertain significance Single submitter
- EPHB2 p.Ala976Thr Uncertain significance Single submitter
- EPHB2 p.Arg384Cys Uncertain significance Single submitter
- EPHB2 p.Arg57His Uncertain significance Single submitter
- EPHB2 p.Arg791Leu Uncertain significance Single submitter
- EPHB2 p.Asp144Asn Uncertain significance Single submitter
- EPHB2 p.Asp244Tyr Uncertain significance Single submitter
- EPHB2 p.Asp315Glu Uncertain significance Single submitter
- EPHB2 p.Asp604Asn Uncertain significance Single submitter
- EPHB2 p.Asp678Gly Uncertain significance Single submitter
- EPHB2 p.Gln329Arg Uncertain significance Single submitter
- EPHB2 p.Gln458Arg Uncertain significance Single submitter
- EPHB2 p.Gln534His Uncertain significance Single submitter
- EPHB2 p.Glu145Lys Uncertain significance Single submitter
- EPHB2 p.Glu603Lys Uncertain significance Single submitter
- EPHB2 p.Gly153Arg Uncertain significance Single submitter
- EPHB2 p.Gly183Ser Uncertain significance Single submitter
- EPHB2 p.Gly245Ser Uncertain significance Single submitter
- EPHB2 p.Gly633Cys Uncertain significance Single submitter
- EPHB2 p.Gly644Val Uncertain significance Single submitter
- EPHB2 p.His583Gln Uncertain significance Single submitter
- EPHB2 p.Leu771Val Uncertain significance Single submitter
- EPHB2 p.Lys691Glu Uncertain significance Single submitter
- EPHB2 p.Met131Ile Uncertain significance Single submitter
- EPHB2 p.Met131Val Uncertain significance Single submitter
- EPHB2 p.Pro168Ser Uncertain significance Single submitter
- EPHB2 p.Pro605Ala Uncertain significance Single submitter
-
EPHB2 p.Pro795Gln
Uncertain significance
Single submitter
bleeding disorder, platelet-type, 22
- EPHB2 p.Pro847Gln Uncertain significance Single submitter
- EPHB2 p.Ser122Leu Uncertain significance Single submitter
- EPHB2 p.Ser426Cys Uncertain significance Single submitter
- EPHB2 p.Ser657Leu Uncertain significance Single submitter
- EPHB2 p.Ser897Pro Uncertain significance Single submitter
- EPHB2 p.Thr126Ile Uncertain significance Single submitter
- EPHB2 p.Thr793Ile Uncertain significance Single submitter
- EPHB2 p.Thr879Met Uncertain significance Single submitter
- EPHB2 p.Tyr115Cys Uncertain significance Single submitter
- EPHB2 p.Tyr516Cys Uncertain significance Single submitter
- EPHB2 p.Val944Ile Uncertain significance Single submitter
-
EPHB2 p.Tyr240Asp
Uncertain significance
No assertion criteria
EPHB2-related disorder
Predictors split 48
The independent predictors disagree with each other — read with care.
-
EPHB2 p.Asp678Asn
Likely benign
Multiple submitters
prostate cancer/brain cancer susceptibility
- EPHB2 p.Val414Ile Uncertain significance Multiple submitters
- EPHB2 p.Ala189Thr Uncertain significance Single submitter
- EPHB2 p.Ala228Thr Uncertain significance Single submitter
- EPHB2 p.Arg171His Uncertain significance Single submitter
- EPHB2 p.Arg191His Uncertain significance Single submitter
- EPHB2 p.Arg195Gly Uncertain significance Single submitter
- EPHB2 p.Arg253His Uncertain significance Single submitter
- EPHB2 p.Arg374His Uncertain significance Single submitter
- EPHB2 p.Arg447His Uncertain significance Single submitter
- EPHB2 p.Asn242Lys Uncertain significance Single submitter
- EPHB2 p.Asn378Lys Uncertain significance Single submitter
- EPHB2 p.Asn606Ser Uncertain significance Single submitter
- EPHB2 p.Asp349Asn Uncertain significance Single submitter
- EPHB2 p.Asp416Asn Uncertain significance Single submitter
- EPHB2 p.Asp678Glu Uncertain significance Single submitter
- EPHB2 p.Asp774Asn Uncertain significance Single submitter
- EPHB2 p.Asp911Glu Uncertain significance Single submitter
- EPHB2 p.Gln149His Uncertain significance Single submitter
- EPHB2 p.Gln526His Uncertain significance Single submitter
- EPHB2 p.Glu246Lys Uncertain significance Single submitter
- EPHB2 p.Glu390Lys Uncertain significance Single submitter
- EPHB2 p.Glu477Lys Likely benign Single submitter
- EPHB2 p.Glu532Asp Uncertain significance Single submitter
- EPHB2 p.Glu532Lys Uncertain significance Single submitter
- EPHB2 p.Glu840Asp Uncertain significance Single submitter
- EPHB2 p.Glu920Lys Uncertain significance Single submitter
- EPHB2 p.Gly497Asp Uncertain significance Single submitter
- EPHB2 p.Gly501Ser Uncertain significance Single submitter
- EPHB2 p.Gly82Asp Uncertain significance Single submitter
- EPHB2 p.Ile618Asn Likely benign Single submitter
- EPHB2 p.Ile648Asn Uncertain significance Single submitter
- EPHB2 p.Lys931Thr Uncertain significance Single submitter
- EPHB2 p.Met523Val Uncertain significance Single submitter
- EPHB2 p.Pro778Ala Uncertain significance Single submitter
- EPHB2 p.Ser225Gly Uncertain significance Single submitter
- EPHB2 p.Ser396Gly Uncertain significance Single submitter
- EPHB2 p.Ser446Ile Uncertain significance Single submitter
- EPHB2 p.Ser548Leu Uncertain significance Single submitter
- EPHB2 p.Ser897Tyr Uncertain significance Single submitter
- EPHB2 p.Thr492Met Uncertain significance Single submitter
- EPHB2 p.Thr55Met Uncertain significance Single submitter
- EPHB2 p.Thr779Ala Uncertain significance Single submitter
- EPHB2 p.Thr908Ala Uncertain significance Single submitter
- EPHB2 p.Val233Glu Uncertain significance Single submitter
- EPHB2 p.Val357Ile Uncertain significance Single submitter
- EPHB2 p.Val495Leu Uncertain significance Single submitter
- EPHB2 p.Val759Ile Uncertain significance Single submitter
All EPHB2 variants
Pathogenic 2
- p.Arg745Cys No assertion criteria bleeding disorder, platelet-type, 22
- p.Gln722Ter No assertion criteria prostate cancer/brain cancer susceptibility
Benign 14
- c.1766-9G>T Multiple submitters
- p.Ala279Ser Multiple submitters prostate cancer/brain cancer susceptibility
- p.Asp574= Multiple submitters
- p.Gln875= Multiple submitters
- p.Ser170= Multiple submitters
- p.Tyr310= Multiple submitters
- p.Val650Ala Multiple submitters
- c.1888+9C>T Single submitter
- p.Gln208= Single submitter
- p.Gly515= Single submitter
- p.Ile563= Single submitter
- p.Leu219= Single submitter
- p.Pro459= Single submitter
- p.Val411= Single submitter
Likely benign 43
- p.Asp678Asn Multiple submitters prostate cancer/brain cancer susceptibility ⚠
- c.1700+10G>A Single submitter
- c.2697-9C>T Single submitter
- p.Ala230= Single submitter
- p.Ala327= Single submitter
- p.Arg369Gln Single submitter
- p.Arg568= Single submitter
- p.Arg80= Single submitter
- p.Asn242= Single submitter
- p.Asn70= Single submitter
- p.Asp244= Single submitter
- p.Asp773= Single submitter
- p.Cys303= Single submitter
- p.Glu477Lys Single submitter ⚠
- p.Gly785= Single submitter
- p.His87= Single submitter
- p.Ile227= Single submitter
- p.Ile395= Single submitter
- p.Ile618Asn Single submitter ⚠
- p.Ile652= Single submitter
- p.Leu187= Single submitter
- p.Leu880= Single submitter
- p.Phe260= Single submitter
- p.Phe677= Single submitter
- p.Ser455= Single submitter
- p.Ser709= Single submitter
- p.Thr492= Single submitter
- p.Thr917= Single submitter
- p.Tyr742= Single submitter
- p.Val263Ile Single submitter Peters anomaly
- c.968-7G>A No assertion criteria EPHB2-related disorder
- c.*120G>A No assertion criteria EPHB2-related disorder
- c.*213A>G No assertion criteria EPHB2-related disorder
- c.*291C>T No assertion criteria EPHB2-related disorder
- p.Asn755= No assertion criteria EPHB2-related disorder
- p.His583= No assertion criteria EPHB2-related disorder
- p.Phe803= No assertion criteria EPHB2-related disorder
- p.Ser218= No assertion criteria EPHB2-related disorder
- p.Ser26= No assertion criteria EPHB2-related disorder
- p.Ser805= No assertion criteria EPHB2-related disorder
- p.Ser93= No assertion criteria EPHB2-related disorder
- p.Thr512= No assertion criteria EPHB2-related disorder
- p.Tyr596= No assertion criteria EPHB2-related disorder
Uncertain significance 92
- p.Val414Ile Multiple submitters ⚠
- c.812-3C>G Single submitter
- c.*174_*181dup Single submitter bleeding disorder, platelet-type, 22
- c.*214_*215del Single submitter prostate cancer/brain cancer susceptibility
- p.Ala189Thr Single submitter ⚠
- p.Ala228Thr Single submitter ⚠
- p.Ala31Thr Single submitter ⚠
- p.Ala731Thr Single submitter ⚠
- p.Ala732Val Single submitter ⚠
- p.Ala854Thr Single submitter ⚠
- p.Ala935Thr Single submitter ⚠
- p.Ala976Thr Single submitter ⚠
- p.Arg171His Single submitter ⚠
- p.Arg191His Single submitter ⚠
- p.Arg195Gly Single submitter ⚠
- p.Arg253His Single submitter ⚠
- p.Arg374His Single submitter ⚠
- p.Arg384Cys Single submitter ⚠
- p.Arg447His Single submitter ⚠
- p.Arg57His Single submitter ⚠
- p.Arg791Leu Single submitter ⚠
- p.Asn242Lys Single submitter ⚠
- p.Asn378Lys Single submitter ⚠
- p.Asn606Ser Single submitter ⚠
- p.Asp144Asn Single submitter ⚠
- p.Asp244Tyr Single submitter ⚠
- p.Asp315Glu Single submitter ⚠
- p.Asp349Asn Single submitter ⚠
- p.Asp416Asn Single submitter ⚠
- p.Asp604Asn Single submitter ⚠
- p.Asp678Glu Single submitter ⚠
- p.Asp678Gly Single submitter ⚠
- p.Asp774Asn Single submitter ⚠
- p.Asp911Glu Single submitter ⚠
- p.Gln149His Single submitter ⚠
- p.Gln329Arg Single submitter ⚠
- p.Gln458Arg Single submitter ⚠
- p.Gln526His Single submitter ⚠
- p.Gln534His Single submitter ⚠
- p.Glu145Lys Single submitter ⚠
- p.Glu246Lys Single submitter ⚠
- p.Glu390Lys Single submitter ⚠
- p.Glu532Asp Single submitter ⚠
- p.Glu532Lys Single submitter ⚠
- p.Glu603Lys Single submitter ⚠
- p.Glu840Asp Single submitter ⚠
- p.Glu920Lys Single submitter ⚠
- p.Gly153Arg Single submitter ⚠
- p.Gly183Ser Single submitter ⚠
- p.Gly245Ser Single submitter ⚠
- p.Gly497Asp Single submitter ⚠
- p.Gly501Ser Single submitter ⚠
- p.Gly633Cys Single submitter ⚠
- p.Gly644Val Single submitter ⚠
- p.Gly82Asp Single submitter ⚠
- p.His583Gln Single submitter ⚠
- p.Ile648Asn Single submitter ⚠
- p.Leu771Val Single submitter ⚠
- p.Lys691Glu Single submitter ⚠
- p.Lys931Thr Single submitter ⚠
- p.Met131Ile Single submitter ⚠
- p.Met131Val Single submitter ⚠
- p.Met523Val Single submitter ⚠
- p.Pro168Ser Single submitter ⚠
- p.Pro605Ala Single submitter ⚠
- p.Pro778Ala Single submitter ⚠
- p.Pro795Gln Single submitter bleeding disorder, platelet-type, 22 ⚠
- p.Pro847Gln Single submitter ⚠
- p.Ser122Leu Single submitter ⚠
- p.Ser225Gly Single submitter ⚠
- p.Ser396Gly Single submitter ⚠
- p.Ser426Cys Single submitter ⚠
- p.Ser446Ile Single submitter ⚠
- p.Ser548Leu Single submitter ⚠
- p.Ser657Leu Single submitter ⚠
- p.Ser897Pro Single submitter ⚠
- p.Ser897Tyr Single submitter ⚠
- p.Thr126Ile Single submitter ⚠
- p.Thr492Met Single submitter ⚠
- p.Thr55Met Single submitter ⚠
- p.Thr779Ala Single submitter ⚠
- p.Thr793Ile Single submitter ⚠
- p.Thr879Met Single submitter ⚠
- p.Thr908Ala Single submitter ⚠
- p.Tyr115Cys Single submitter ⚠
- p.Tyr516Cys Single submitter ⚠
- p.Val233Glu Single submitter ⚠
- p.Val357Ile Single submitter ⚠
- p.Val495Leu Single submitter ⚠
- p.Val759Ile Single submitter ⚠
- p.Val944Ile Single submitter ⚠
- p.Tyr240Asp No assertion criteria EPHB2-related disorder ⚠