EPHB1 — 105 ClinVar variants
All ClinVar germline EPHB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 99 flagged for review →
2 Benign · 1 Benign/Likely benign · 3 Likely benign · 99 Uncertain significance
Full EPHB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 99
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 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EPHB1 p.Ala12Ser Uncertain significance Single submitter
- EPHB1 p.Ala132Gly Uncertain significance Single submitter
- EPHB1 p.Ala182Thr Uncertain significance Single submitter
- EPHB1 p.Ala39Val Uncertain significance Single submitter
- EPHB1 p.Ala547Val Uncertain significance Single submitter
- EPHB1 p.Ala896Thr Uncertain significance Single submitter
- EPHB1 p.Ala982Val Uncertain significance Single submitter
- EPHB1 p.Arg222Gln Uncertain significance Single submitter
- EPHB1 p.Arg292Cys Uncertain significance Single submitter
- EPHB1 p.Arg292His Uncertain significance Single submitter
- EPHB1 p.Arg304Gln Uncertain significance Single submitter
- EPHB1 p.Arg364Gln Uncertain significance Single submitter
- EPHB1 p.Arg485Lys Uncertain significance Single submitter
- EPHB1 p.Arg662His Uncertain significance Single submitter
- EPHB1 p.Arg663Trp Uncertain significance Single submitter
- EPHB1 p.Arg691Pro Uncertain significance Single submitter
- EPHB1 p.Asn866Lys Uncertain significance Single submitter
- EPHB1 p.Asp118His Uncertain significance Single submitter
- EPHB1 p.Asp528Asn Uncertain significance Single submitter
- EPHB1 p.Asp706Tyr Uncertain significance Single submitter
- EPHB1 p.Cys522Tyr Uncertain significance Single submitter
- EPHB1 p.Cys96Tyr Uncertain significance Single submitter
- EPHB1 p.Glu737Asp Uncertain significance Single submitter
- EPHB1 p.Gly587Ala Uncertain significance Single submitter
- EPHB1 p.Gly587Val Uncertain significance Single submitter
- EPHB1 p.Gly727Val Uncertain significance Single submitter
- EPHB1 p.Ile226Phe Uncertain significance Single submitter
- EPHB1 p.Ile226Val Uncertain significance Single submitter
- EPHB1 p.Ile680Phe Uncertain significance Single submitter
- EPHB1 p.Ile907Val Uncertain significance Single submitter
- EPHB1 p.Leu175Phe Uncertain significance Single submitter
- EPHB1 p.Leu3Pro Uncertain significance Single submitter
- EPHB1 p.Lys124Arg Uncertain significance Single submitter
- EPHB1 p.Lys643Arg Uncertain significance Single submitter
- EPHB1 p.Lys889Glu Uncertain significance Single submitter
- EPHB1 p.Met18Thr Uncertain significance Single submitter
- EPHB1 p.Met672Val Uncertain significance Single submitter
- EPHB1 p.Met700Ile Uncertain significance Single submitter
- EPHB1 p.Phe708Ser Uncertain significance Single submitter
- EPHB1 p.Pro249Ser Uncertain significance Single submitter
- EPHB1 p.Pro434Ser Uncertain significance Single submitter
- EPHB1 p.Pro438Ser Uncertain significance Single submitter
- EPHB1 p.Pro692Leu Uncertain significance Single submitter
- EPHB1 p.Pro793Leu Uncertain significance Single submitter
- EPHB1 p.Pro885Leu Uncertain significance Single submitter
- EPHB1 p.Pro980Gln Uncertain significance Single submitter
- EPHB1 p.Ser369Arg Uncertain significance Single submitter
- EPHB1 p.Ser395Arg Uncertain significance Single submitter
- EPHB1 p.Ser486Arg Uncertain significance Single submitter
- EPHB1 p.Ser754Arg Uncertain significance Single submitter
- EPHB1 p.Ser977Asn Uncertain significance Single submitter
- EPHB1 p.Thr400Asn Uncertain significance Single submitter
- EPHB1 p.Thr599Ala Uncertain significance Single submitter
- EPHB1 p.Thr777Ile Uncertain significance Single submitter
- EPHB1 p.Tyr600Asp Uncertain significance Single submitter
- EPHB1 p.Tyr600Cys Uncertain significance Single submitter
- EPHB1 p.Tyr928His Uncertain significance Single submitter
- EPHB1 p.Val205Met Uncertain significance Single submitter
- EPHB1 p.Val553Ile Uncertain significance Single submitter
- EPHB1 p.Val554Leu Uncertain significance Single submitter
- EPHB1 p.Val817Asp Uncertain significance Single submitter
- EPHB1 p.Val833Ala Uncertain significance Single submitter
-
EPHB1 p.Phe708Leu
Uncertain significance
No assertion criteria
autism
Predictors split 36
The independent predictors disagree with each other — read with care.
- EPHB1 p.Ala872Val Uncertain significance Single submitter
- EPHB1 p.Arg304Trp Uncertain significance Single submitter
- EPHB1 p.Arg368Trp Uncertain significance Single submitter
- EPHB1 p.Arg80Gln Uncertain significance Single submitter
- EPHB1 p.Arg90His Uncertain significance Single submitter
- EPHB1 p.Asn604Ser Uncertain significance Single submitter
- EPHB1 p.Asp374Glu Uncertain significance Single submitter
- EPHB1 p.Gln770Arg Uncertain significance Single submitter
- EPHB1 p.Glu214Asp Uncertain significance Single submitter
- EPHB1 p.Glu65Gln Uncertain significance Single submitter
- EPHB1 p.Glu873Gly Uncertain significance Single submitter
- EPHB1 p.Gly306Ser Uncertain significance Single submitter
- EPHB1 p.Ile837Met Uncertain significance Single submitter
- EPHB1 p.Ile874Thr Uncertain significance Single submitter
- EPHB1 p.Leu11Gln Uncertain significance Single submitter
- EPHB1 p.Met724Leu Uncertain significance Single submitter
- EPHB1 p.Met881Ile Uncertain significance Single submitter
- EPHB1 p.Met983Lys Uncertain significance Single submitter
- EPHB1 p.Phe418Leu Uncertain significance Single submitter
- EPHB1 p.Phe552Leu Uncertain significance Single submitter
- EPHB1 p.Pro197His Uncertain significance Single submitter
- EPHB1 p.Pro420Ala Uncertain significance Single submitter
- EPHB1 p.Pro898Leu Uncertain significance Single submitter
- EPHB1 p.Pro901Leu Uncertain significance Single submitter
- EPHB1 p.Ser185Ala Uncertain significance Single submitter
- EPHB1 p.Ser545Leu Uncertain significance Single submitter
- EPHB1 p.Thr160Arg Uncertain significance Single submitter
- EPHB1 p.Thr21Met Uncertain significance Single submitter
- EPHB1 p.Thr403Asn Uncertain significance Single submitter
- EPHB1 p.Thr403Ile Uncertain significance Single submitter
- EPHB1 p.Thr428Ser Uncertain significance Single submitter
- EPHB1 p.Thr717Ala Uncertain significance Single submitter
- EPHB1 p.Thr773Asn Uncertain significance Single submitter
- EPHB1 p.Val423Ile Uncertain significance Single submitter
- EPHB1 p.Val425Ile Uncertain significance Single submitter
- EPHB1 p.Val891Met Uncertain significance Single submitter
All EPHB1 variants
Benign/Likely benign 1
- p.Phe552= Multiple submitters
Likely benign 3
- p.Ile837= Single submitter
- p.Ile956Val Single submitter
- p.Thr27= Single submitter
Uncertain significance 99
- p.Ala12Ser Single submitter ⚠
- p.Ala132Gly Single submitter ⚠
- p.Ala182Thr Single submitter ⚠
- p.Ala39Val Single submitter ⚠
- p.Ala547Val Single submitter ⚠
- p.Ala872Val Single submitter ⚠
- p.Ala896Thr Single submitter ⚠
- p.Ala982Val Single submitter ⚠
- p.Arg222Gln Single submitter ⚠
- p.Arg292Cys Single submitter ⚠
- p.Arg292His Single submitter ⚠
- p.Arg304Gln Single submitter ⚠
- p.Arg304Trp Single submitter ⚠
- p.Arg364Gln Single submitter ⚠
- p.Arg368Trp Single submitter ⚠
- p.Arg485Lys Single submitter ⚠
- p.Arg662His Single submitter ⚠
- p.Arg663Trp Single submitter ⚠
- p.Arg691Pro Single submitter ⚠
- p.Arg80Gln Single submitter ⚠
- p.Arg90His Single submitter ⚠
- p.Asn604Ser Single submitter ⚠
- p.Asn866Lys Single submitter ⚠
- p.Asp118His Single submitter ⚠
- p.Asp374Glu Single submitter ⚠
- p.Asp528Asn Single submitter ⚠
- p.Asp706Tyr Single submitter ⚠
- p.Cys522Tyr Single submitter ⚠
- p.Cys96Tyr Single submitter ⚠
- p.Gln770Arg Single submitter ⚠
- p.Glu214Asp Single submitter ⚠
- p.Glu65Gln Single submitter ⚠
- p.Glu737Asp Single submitter ⚠
- p.Glu873Gly Single submitter ⚠
- p.Gly306Ser Single submitter ⚠
- p.Gly587Ala Single submitter ⚠
- p.Gly587Val Single submitter ⚠
- p.Gly727Val Single submitter ⚠
- p.Ile226Phe Single submitter ⚠
- p.Ile226Val Single submitter ⚠
- p.Ile680Phe Single submitter ⚠
- p.Ile837Met Single submitter ⚠
- p.Ile874Thr Single submitter ⚠
- p.Ile907Val Single submitter ⚠
- p.Leu11Gln Single submitter ⚠
- p.Leu175Phe Single submitter ⚠
- p.Leu3Pro Single submitter ⚠
- p.Lys124Arg Single submitter ⚠
- p.Lys643Arg Single submitter ⚠
- p.Lys889Glu Single submitter ⚠
- p.Met18Thr Single submitter ⚠
- p.Met672Val Single submitter ⚠
- p.Met700Ile Single submitter ⚠
- p.Met724Leu Single submitter ⚠
- p.Met881Ile Single submitter ⚠
- p.Met983Lys Single submitter ⚠
- p.Phe418Leu Single submitter ⚠
- p.Phe552Leu Single submitter ⚠
- p.Phe708Ser Single submitter ⚠
- p.Pro197His Single submitter ⚠
- p.Pro249Ser Single submitter ⚠
- p.Pro420Ala Single submitter ⚠
- p.Pro434Ser Single submitter ⚠
- p.Pro438Ser Single submitter ⚠
- p.Pro692Leu Single submitter ⚠
- p.Pro793Leu Single submitter ⚠
- p.Pro885Leu Single submitter ⚠
- p.Pro898Leu Single submitter ⚠
- p.Pro901Leu Single submitter ⚠
- p.Pro980Gln Single submitter ⚠
- p.Ser185Ala Single submitter ⚠
- p.Ser369Arg Single submitter ⚠
- p.Ser395Arg Single submitter ⚠
- p.Ser486Arg Single submitter ⚠
- p.Ser545Leu Single submitter ⚠
- p.Ser754Arg Single submitter ⚠
- p.Ser977Asn Single submitter ⚠
- p.Thr160Arg Single submitter ⚠
- p.Thr21Met Single submitter ⚠
- p.Thr400Asn Single submitter ⚠
- p.Thr403Asn Single submitter ⚠
- p.Thr403Ile Single submitter ⚠
- p.Thr428Ser Single submitter ⚠
- p.Thr599Ala Single submitter ⚠
- p.Thr717Ala Single submitter ⚠
- p.Thr773Asn Single submitter ⚠
- p.Thr777Ile Single submitter ⚠
- p.Tyr600Asp Single submitter ⚠
- p.Tyr600Cys Single submitter ⚠
- p.Tyr928His Single submitter ⚠
- p.Val205Met Single submitter ⚠
- p.Val423Ile Single submitter ⚠
- p.Val425Ile Single submitter ⚠
- p.Val553Ile Single submitter ⚠
- p.Val554Leu Single submitter ⚠
- p.Val817Asp Single submitter ⚠
- p.Val833Ala Single submitter ⚠
- p.Val891Met Single submitter ⚠
- p.Phe708Leu No assertion criteria autism ⚠