EPHB3 — 110 ClinVar variants

All ClinVar germline EPHB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 101 flagged for review →

3 Benign · 6 Likely benign · 101 Uncertain significance

Full EPHB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 101

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 50

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 51

The independent predictors disagree with each other — read with care.

All EPHB3 variants

Benign 3

c.1748+4C>T Multiple submitters
p.Phe689= Multiple submitters
p.Pro438= Multiple submitters

Likely benign 6

p.Arg677= Single submitter
p.Arg84His Single submitter
p.Gly588Ser Single submitter
p.Ile497= Single submitter
p.Lys943= Single submitter
p.Ser494= Single submitter

Uncertain significance 101

p.Ala220Thr Single submitter ⚠
p.Ala229Val Single submitter ⚠
p.Ala315Thr Single submitter ⚠
p.Ala332Val Single submitter ⚠
p.Ala442Glu Single submitter ⚠
p.Ala517Thr Single submitter ⚠
p.Ala53Val Single submitter ⚠
p.Ala71Ser Single submitter ⚠
p.Ala850Thr Single submitter ⚠
p.Ala908Thr Single submitter ⚠
p.Arg100Gln Single submitter ⚠
p.Arg104Trp Single submitter ⚠
p.Arg173His Single submitter ⚠
p.Arg326His Single submitter ⚠
p.Arg326Ser Single submitter ⚠
p.Arg363Trp Single submitter ⚠
p.Arg36Gln Single submitter ⚠
p.Arg391Cys Single submitter ⚠
p.Arg3Lys Single submitter ⚠
p.Arg401Gln Single submitter ⚠
p.Arg401Trp Single submitter ⚠
p.Arg408Cys Single submitter ⚠
p.Arg420Cys Single submitter ⚠
p.Arg440His Single submitter ⚠
p.Arg478Trp Single submitter ⚠
p.Arg649His Single submitter ⚠
p.Arg657His Single submitter ⚠
p.Arg658Gln Single submitter ⚠
p.Arg674Thr Single submitter ⚠
p.Arg705Trp Single submitter ⚠
p.Arg813Gln Single submitter ⚠
p.Arg877Gln Single submitter ⚠
p.Arg877Trp Single submitter ⚠
p.Arg919Cys Single submitter ⚠
p.Arg967Cys Single submitter ⚠
p.Asn890Ser Single submitter ⚠
p.Asp330Asn Single submitter ⚠
p.Asp932Asn Single submitter ⚠
p.Asp955His Single submitter ⚠
p.Cys863Ser Single submitter ⚠
p.Glu70Lys Single submitter ⚠
p.Glu751Gln Single submitter ⚠
p.Glu85Gln Single submitter ⚠
p.Gly172Ser Single submitter ⚠
p.Gly258Ser Single submitter ⚠
p.Gly34Arg Single submitter ⚠
p.Gly366Asp Single submitter ⚠
p.Gly382Arg Single submitter ⚠
p.Gly430Ser Single submitter ⚠
p.Gly911Arg Single submitter ⚠
p.His275Arg Single submitter ⚠
p.His418Tyr Single submitter ⚠
p.Ile122Asn Single submitter ⚠
p.Ile639Met Single submitter ⚠
p.Ile709Val Single submitter ⚠
p.Ile888Thr Single submitter ⚠
p.Ile97Ser Single submitter ⚠
p.Leu132Phe Single submitter ⚠
p.Leu23Val Single submitter ⚠
p.Lys668Met Single submitter ⚠
p.Met150Ile Single submitter ⚠
p.Met150Leu Single submitter ⚠
p.Met72Thr Single submitter ⚠
p.Met842Lys Single submitter ⚠
p.Phe730Leu Single submitter ⚠
p.Phe782Val Single submitter ⚠
p.Pro13Arg Single submitter ⚠
p.Pro289Ser Single submitter ⚠
p.Pro303Ser Single submitter ⚠
p.Pro305Ser Single submitter ⚠
p.Pro342Ser Single submitter ⚠
p.Pro475Leu Single submitter ⚠
p.Pro479Ser Single submitter ⚠
p.Pro706Gln Single submitter ⚠
p.Pro807Ser Single submitter ⚠
p.Pro859Ser Single submitter ⚠
p.Pro860Ser Single submitter ⚠
p.Ser139Gly Single submitter ⚠
p.Ser331Thr Single submitter ⚠
p.Ser334Arg Single submitter ⚠
p.Ser341Ala Single submitter ⚠
p.Ser360Asn Single submitter ⚠
p.Ser87Thr Single submitter ⚠
p.Thr319Asn Single submitter ⚠
p.Thr406Met Single submitter ⚠
p.Thr419Arg Single submitter ⚠
p.Thr419Met Single submitter ⚠
p.Thr55Ile Single submitter ⚠
p.Thr594Met Single submitter ⚠
p.Thr613Ile Single submitter ⚠
p.Thr672Ile Single submitter ⚠
p.Thr731Met Single submitter ⚠
p.Thr925Pro Single submitter ⚠
p.Thr928Met Single submitter ⚠
p.Trp804Cys Single submitter ⚠
p.Tyr942Phe Single submitter ⚠
p.Val399Met Single submitter ⚠
p.Val508Met Single submitter ⚠
p.Val630Met Single submitter ⚠
p.Val633Ile Single submitter ⚠
p.Val947Ile Single submitter ⚠