EPHA4 — 282 ClinVar variants
All ClinVar germline EPHA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 149 flagged for review →
2 Likely pathogenic · 2 Conflicting · 20 Benign · 103 Likely benign · 155 Uncertain significance
Full EPHA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 149
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 79
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EPHA4 p.Ala321Thr Uncertain significance Multiple submitters
- EPHA4 p.Arg230Gln Uncertain significance Multiple submitters
- EPHA4 p.Arg466Gln Uncertain significance Multiple submitters
- EPHA4 p.Arg486Gln Uncertain significance Multiple submitters
- EPHA4 p.Gly22Asp Uncertain significance Multiple submitters
- EPHA4 p.Gly248Arg Uncertain significance Multiple submitters
- EPHA4 p.Leu9Val Uncertain significance Multiple submitters
- EPHA4 p.Met734Val Uncertain significance Multiple submitters
- EPHA4 p.Pro905Thr Uncertain significance Multiple submitters
- EPHA4 p.Val548Asp Uncertain significance Multiple submitters
- EPHA4 p.Ala221Ser Uncertain significance Single submitter
- EPHA4 p.Ala304Asp Uncertain significance Single submitter
- EPHA4 p.Ala371Asp Uncertain significance Single submitter
- EPHA4 p.Ala749Ser Uncertain significance Single submitter
- EPHA4 p.Ala749Thr Uncertain significance Single submitter
- EPHA4 p.Ala792Val Uncertain significance Single submitter
- EPHA4 p.Arg269Gln Uncertain significance Single submitter
- EPHA4 p.Arg311Gln Uncertain significance Single submitter
- EPHA4 p.Arg357His Uncertain significance Single submitter
- EPHA4 p.Arg378Leu Uncertain significance Single submitter
- EPHA4 p.Arg789Gln Uncertain significance Single submitter
- EPHA4 p.Arg799His Uncertain significance Single submitter
- EPHA4 p.Arg823Thr Uncertain significance Single submitter
- EPHA4 p.Arg890Thr Uncertain significance Single submitter
- EPHA4 p.Asn504Ser Uncertain significance Single submitter
- EPHA4 p.Asn876Ser Uncertain significance Single submitter
- EPHA4 p.Asp319Asn Uncertain significance Single submitter
- EPHA4 p.Asp373Glu Uncertain significance Single submitter
- EPHA4 p.Asp402Gly Uncertain significance Single submitter
- EPHA4 p.Asp427Asn Uncertain significance Single submitter
- EPHA4 p.Asp746Gly Uncertain significance Single submitter
- EPHA4 p.Asp859Gly Uncertain significance Single submitter
- EPHA4 p.Cys17Ser Uncertain significance Single submitter
- EPHA4 p.Cys369Arg Uncertain significance Single submitter
- EPHA4 p.Cys649Tyr Uncertain significance Single submitter
- EPHA4 p.Gln358Arg Uncertain significance Single submitter
- EPHA4 p.Glu341Lys Uncertain significance Single submitter
- EPHA4 p.Gly543Ala Uncertain significance Single submitter
- EPHA4 p.Gly766Val Uncertain significance Single submitter
- EPHA4 p.Gly840Asp Uncertain significance Single submitter
- EPHA4 p.His385Arg Uncertain significance Single submitter
- EPHA4 p.His945Gln Uncertain significance Single submitter
- EPHA4 p.His980Gln Uncertain significance Single submitter
- EPHA4 p.Ile145Thr Uncertain significance Single submitter
- EPHA4 p.Ile400Val Uncertain significance Single submitter
- EPHA4 p.Ile4Phe Uncertain significance Single submitter
- EPHA4 p.Ile540Phe Uncertain significance Single submitter
- EPHA4 p.Ile540Thr Uncertain significance Single submitter
- EPHA4 p.Ile851Thr Uncertain significance Single submitter
- EPHA4 p.Ile959Val Uncertain significance Single submitter
- EPHA4 p.Lys277Arg Uncertain significance Single submitter
- EPHA4 p.Met972Thr Uncertain significance Single submitter
- EPHA4 p.Phe871Tyr Uncertain significance Single submitter
- EPHA4 p.Phe932Leu Uncertain significance Single submitter
- EPHA4 p.Pro112Leu Uncertain significance Single submitter
- EPHA4 p.Pro328Ser Uncertain significance Single submitter
- EPHA4 p.Pro599Thr Uncertain significance Single submitter
- EPHA4 p.Pro844Ser Uncertain significance Single submitter
- EPHA4 p.Pro845Ala Uncertain significance Single submitter
- EPHA4 p.Pro885Leu Uncertain significance Single submitter
- EPHA4 p.Ser177Asn Uncertain significance Single submitter
- EPHA4 p.Ser306Leu Uncertain significance Single submitter
- EPHA4 p.Ser382Asn Uncertain significance Single submitter
- EPHA4 p.Ser48Asn Uncertain significance Single submitter
- EPHA4 p.Ser763Cys Uncertain significance Single submitter
- EPHA4 p.Ser805Asn Uncertain significance Single submitter
- EPHA4 p.Ser829Tyr Uncertain significance Single submitter
- EPHA4 p.Ser895Thr Uncertain significance Single submitter
- EPHA4 p.Thr407Ile Uncertain significance Single submitter
- EPHA4 p.Thr531Ala Uncertain significance Single submitter
- EPHA4 p.Thr534Ala Uncertain significance Single submitter
- EPHA4 p.Thr960Met Uncertain significance Single submitter
- EPHA4 p.Thr974Ile Uncertain significance Single submitter
- EPHA4 p.Tyr488Asn Uncertain significance Single submitter
- EPHA4 p.Tyr509Cys Uncertain significance Single submitter
- EPHA4 p.Tyr742His Uncertain significance Single submitter
- EPHA4 p.Tyr928Cys Uncertain significance Single submitter
- EPHA4 p.Val157Met Uncertain significance Single submitter
- EPHA4 p.Val984Leu Uncertain significance Single submitter
Predictors split 68
The independent predictors disagree with each other — read with care.
- EPHA4 p.Ala852Val Uncertain significance Multiple submitters
- EPHA4 p.Arg209Cys Uncertain significance Multiple submitters
- EPHA4 p.Arg466Trp Uncertain significance Multiple submitters
- EPHA4 p.Arg573Trp Uncertain significance Multiple submitters
- EPHA4 p.Arg639Cys Uncertain significance Multiple submitters
- EPHA4 p.Arg639His Uncertain significance Multiple submitters
- EPHA4 p.Asn423Lys Uncertain significance Multiple submitters
- EPHA4 p.Ser525Gly Uncertain significance Multiple submitters
- EPHA4 p.Thr893Met Uncertain significance Multiple submitters
- EPHA4 p.Val97Leu Uncertain significance Multiple submitters
- EPHA4 p.Val986Ile Uncertain significance Multiple submitters
- EPHA4 p.Ala283Thr Uncertain significance Single submitter
- EPHA4 p.Ala304Val Uncertain significance Single submitter
- EPHA4 p.Ala777Gly Uncertain significance Single submitter
- EPHA4 p.Ala804Gly Uncertain significance Single submitter
- EPHA4 p.Ala922Val Uncertain significance Single submitter
- EPHA4 p.Arg269Trp Uncertain significance Single submitter
- EPHA4 p.Arg571Gln Uncertain significance Single submitter
- EPHA4 p.Arg571Trp Uncertain significance Single submitter
- EPHA4 p.Arg610Gln Uncertain significance Single submitter
- EPHA4 p.Arg717Ile Uncertain significance Single submitter
- EPHA4 p.Arg953Thr Uncertain significance Single submitter
- EPHA4 p.Asn109Ser Uncertain significance Single submitter
- EPHA4 p.Asn140Lys Uncertain significance Single submitter
- EPHA4 p.Asn235Ser Uncertain significance Single submitter
- EPHA4 p.Asn425His Uncertain significance Single submitter
- EPHA4 p.Asn74Ser Uncertain significance Single submitter
- EPHA4 p.Asn899Lys Benign Single submitter
- EPHA4 p.Asp130His Uncertain significance Single submitter
- EPHA4 p.Asp172Glu Uncertain significance Single submitter
- EPHA4 p.Asp867Asn Uncertain significance Single submitter
- EPHA4 p.Glu238Asp Uncertain significance Single submitter
- EPHA4 p.Gly271Arg Uncertain significance Single submitter
- EPHA4 p.Gly392Val Uncertain significance Single submitter
- EPHA4 p.Gly93Val Uncertain significance Single submitter
- EPHA4 p.Gly981Val Uncertain significance Single submitter
- EPHA4 p.His296Tyr Uncertain significance Single submitter
- EPHA4 p.His684Arg Uncertain significance Single submitter
- EPHA4 p.Ile137Thr Uncertain significance Single submitter
- EPHA4 p.Leu284Val Uncertain significance Single submitter
- EPHA4 p.Leu404Ile Uncertain significance Single submitter
- EPHA4 p.Lys178Thr Uncertain significance Single submitter
- EPHA4 p.Lys292Glu Uncertain significance Single submitter
- EPHA4 p.Lys367Arg Uncertain significance Single submitter
- EPHA4 p.Lys397Glu Uncertain significance Single submitter
- EPHA4 p.Lys641Arg Uncertain significance Single submitter
- EPHA4 p.Met814Val Uncertain significance Single submitter
- EPHA4 p.Met925Val Uncertain significance Single submitter
- EPHA4 p.Pro205Leu Uncertain significance Single submitter
- EPHA4 p.Pro505Ala Uncertain significance Single submitter
- EPHA4 p.Pro643Ser Uncertain significance Single submitter
- EPHA4 p.Ser177Arg Uncertain significance Single submitter
- EPHA4 p.Ser232Phe Uncertain significance Single submitter
- EPHA4 p.Ser443Cys Uncertain significance Single submitter
- EPHA4 p.Ser738Cys Uncertain significance Single submitter
- EPHA4 p.Ser741Cys Uncertain significance Single submitter
- EPHA4 p.Ser756Gly Uncertain significance Single submitter
- EPHA4 p.Ser79Arg Uncertain significance Single submitter
- EPHA4 p.Ser895Arg Uncertain significance Single submitter
- EPHA4 p.Thr168Ile Uncertain significance Single submitter
- EPHA4 p.Thr286Met Likely benign Single submitter
- EPHA4 p.Thr396Ala Uncertain significance Single submitter
- EPHA4 p.Thr433Ala Uncertain significance Single submitter
- EPHA4 p.Tyr127His Uncertain significance Single submitter
-
EPHA4 p.Tyr70Phe
Uncertain significance
Single submitter
Epileptic encephalopathy
- EPHA4 p.Val114Ile Uncertain significance Single submitter
- EPHA4 p.Val695Leu Uncertain significance Single submitter
- EPHA4 p.Val916Met Uncertain significance Single submitter
All EPHA4 variants
Likely pathogenic 2
- p.Ala748Thr Single submitter atypical cerebral palsy
- p.Ser552fs Single submitter
Conflicting classifications of pathogenicity 2
- p.Gly41Ala Single submitter ⚠
- p.Val946Met Single submitter ⚠
Benign 20
- c.2074+15C>A Multiple submitters
- c.2346+20T>A Multiple submitters
- p.Lys625= Multiple submitters
- p.Ser306= Multiple submitters
- p.Thr960= Multiple submitters
- c.1716-17dup Single submitter
- c.2346+13G>A Single submitter
- c.2346+13G>C Single submitter
- c.2347-13C>T Single submitter
- c.2847-17dup Single submitter
- c.824-21dup Single submitter
- c.92-5dup Single submitter
- p.Asn340= Single submitter
- p.Asn899Lys Single submitter ⚠
- p.Cys273= Single submitter
- p.Gly383Glu Single submitter
- p.Ile400= Single submitter
- p.Lys964= Single submitter
- p.Ser196= Single submitter
- p.Val452= Single submitter
Likely benign 103
- c.1318+12A>G Single submitter
- c.1443+11A>C Single submitter
- c.1443+13T>C Single submitter
- c.1443+15A>T Single submitter
- c.1444-18T>C Single submitter
- c.159+10G>C Single submitter
- c.160-12G>C Single submitter
- c.1604-14A>T Single submitter
- c.1715+14C>T Single submitter
- c.1716-11A>T Single submitter
- c.1716-17T>A Single submitter
- c.1716-6T>C Single submitter
- c.1775-16_1775-14del Single submitter
- c.1888+16T>G Single submitter
- c.1888+18C>T Single submitter
- c.1888+8T>C Single submitter
- c.1889-5C>T Single submitter
- c.2074+11_2074+12insT Single submitter
- c.2074+16C>G Single submitter
- c.2136+20T>G Single submitter
- c.2137-17A>G Single submitter
- c.2137-5T>C Single submitter
- c.2346+12C>T Single submitter
- c.2347-17G>C Single submitter
- c.2347-19A>C Single submitter
- c.2690+10G>A Single submitter
- c.2690+18A>G Single submitter
- c.2691-19_2691-17dup Single submitter
- c.2847-13G>A Single submitter
- c.2847-14C>T Single submitter
- c.2847-8A>G Single submitter
- c.824-22_824-19del Single submitter
- c.91+18T>C Single submitter
- c.980-15G>A Single submitter
- c.980-4C>T Single submitter
- p.Ala321= Single submitter
- p.Ala583= Single submitter
- p.Ala777= Single submitter
- p.Ala792= Single submitter
- p.Ala852= Single submitter
- p.Arg106= Single submitter
- p.Arg230= Single submitter
- p.Arg454= Single submitter
- p.Arg573= Single submitter
- p.Arg769= Single submitter
- p.Arg842= Single submitter
- p.Asn109= Single submitter
- p.Asn263= Single submitter
- p.Asn318= Single submitter
- p.Asn334= Single submitter
- p.Asn947= Single submitter
- p.Asp158= Single submitter
- p.Asp287= Single submitter
- p.Asp373= Single submitter
- p.Asp617= Single submitter
- p.Glu268= Single submitter
- p.Glu485= Single submitter
- p.Glu703= Single submitter
- p.Gly113= Single submitter
- p.Gly22= Single submitter
- p.Gly220= Single submitter
- p.Gly231= Single submitter
- p.Gly917= Single submitter
- p.Gly93= Single submitter
- p.His266= Single submitter
- p.His512= Single submitter
- p.His945= Single submitter
- p.Ile413= Single submitter
- p.Ile682= Single submitter
- p.Ile837= Single submitter
- p.Ile959= Single submitter
- p.Leu459= Single submitter
- p.Leu951= Single submitter
- p.Lys622= Single submitter
- p.Phe511= Single submitter
- p.Pro426= Single submitter
- p.Pro680= Single submitter
- p.Pro775= Single submitter
- p.Pro78= Single submitter
- p.Ser270= Single submitter
- p.Ser508= Single submitter
- p.Ser554Leu Single submitter
- p.Ser637= Single submitter
- p.Ser768= Single submitter
- p.Ser819= Single submitter
- p.Thr121= Single submitter
- p.Thr286Met Single submitter ⚠
- p.Thr305= Single submitter
- p.Thr532= Single submitter
- p.Thr780= Single submitter
- p.Thr781= Single submitter
- p.Thr893= Single submitter
- p.Tyr182= Single submitter
- p.Tyr409= Single submitter
- p.Tyr474= Single submitter
- p.Tyr602= Single submitter
- p.Tyr798= Single submitter
- p.Tyr820= Single submitter
- p.Val255= Single submitter
- p.Val419= Single submitter
- p.Val447= Single submitter
- p.Val513= Single submitter
- p.Val762= Single submitter
Uncertain significance 155
- p.Ala321Thr Multiple submitters ⚠
- p.Ala852Val Multiple submitters ⚠
- p.Arg209Cys Multiple submitters ⚠
- p.Arg230Gln Multiple submitters ⚠
- p.Arg466Gln Multiple submitters ⚠
- p.Arg466Trp Multiple submitters ⚠
- p.Arg486Gln Multiple submitters ⚠
- p.Arg573Trp Multiple submitters ⚠
- p.Arg639Cys Multiple submitters ⚠
- p.Arg639His Multiple submitters ⚠
- p.Asn423Lys Multiple submitters ⚠
- p.Gly22Asp Multiple submitters ⚠
- p.Gly248Arg Multiple submitters ⚠
- p.Leu9Val Multiple submitters ⚠
- p.Met734Val Multiple submitters ⚠
- p.Pro905Thr Multiple submitters ⚠
- p.Ser525Gly Multiple submitters ⚠
- p.Thr893Met Multiple submitters ⚠
- p.Val548Asp Multiple submitters ⚠
- p.Val97Leu Multiple submitters ⚠
- p.Val986Ile Multiple submitters ⚠
- c.1604-3C>T Single submitter
- c.1716-2A>G Single submitter
- c.1775-3C>T Single submitter
- c.2074+4C>T Single submitter
- p.Ala221Ser Single submitter ⚠
- p.Ala283Thr Single submitter ⚠
- p.Ala304Asp Single submitter ⚠
- p.Ala304Val Single submitter ⚠
- p.Ala371Asp Single submitter ⚠
- p.Ala749Ser Single submitter ⚠
- p.Ala749Thr Single submitter ⚠
- p.Ala777Gly Single submitter ⚠
- p.Ala792Val Single submitter ⚠
- p.Ala804Gly Single submitter ⚠
- p.Ala912fs Single submitter
- p.Ala922Val Single submitter ⚠
- p.Arg269Gln Single submitter ⚠
- p.Arg269Trp Single submitter ⚠
- p.Arg311Gln Single submitter ⚠
- p.Arg357His Single submitter ⚠
- p.Arg378Leu Single submitter ⚠
- p.Arg571Gln Single submitter ⚠
- p.Arg571Trp Single submitter ⚠
- p.Arg610Gln Single submitter ⚠
- p.Arg717Ile Single submitter ⚠
- p.Arg789Gln Single submitter ⚠
- p.Arg799His Single submitter ⚠
- p.Arg823Thr Single submitter ⚠
- p.Arg890del Single submitter
- p.Arg890Thr Single submitter ⚠
- p.Arg953Thr Single submitter ⚠
- p.Arg973Ter Single submitter
- p.Asn109Ser Single submitter ⚠
- p.Asn140Lys Single submitter ⚠
- p.Asn235Ser Single submitter ⚠
- p.Asn425His Single submitter ⚠
- p.Asn504Ser Single submitter ⚠
- p.Asn74Ser Single submitter ⚠
- p.Asn876Ser Single submitter ⚠
- p.Asp130His Single submitter ⚠
- p.Asp172Glu Single submitter ⚠
- p.Asp319Asn Single submitter ⚠
- p.Asp373Glu Single submitter ⚠
- p.Asp402Gly Single submitter ⚠
- p.Asp427Asn Single submitter ⚠
- p.Asp746Gly Single submitter ⚠
- p.Asp859Gly Single submitter ⚠
- p.Asp867Asn Single submitter ⚠
- p.Cys17Ser Single submitter ⚠
- p.Cys369Arg Single submitter ⚠
- p.Cys649Tyr Single submitter ⚠
- p.Gln358Arg Single submitter ⚠
- p.Glu238Asp Single submitter ⚠
- p.Glu341Lys Single submitter ⚠
- p.Gly271Arg Single submitter ⚠
- p.Gly392Val Single submitter ⚠
- p.Gly543Ala Single submitter ⚠
- p.Gly766Val Single submitter ⚠
- p.Gly840Asp Single submitter ⚠
- p.Gly93Val Single submitter ⚠
- p.Gly981Val Single submitter ⚠
- p.His296Tyr Single submitter ⚠
- p.His385Arg Single submitter ⚠
- p.His684Arg Single submitter ⚠
- p.His945Gln Single submitter ⚠
- p.His980Gln Single submitter ⚠
- p.Ile137Thr Single submitter ⚠
- p.Ile145Thr Single submitter ⚠
- p.Ile400Val Single submitter ⚠
- p.Ile4Phe Single submitter ⚠
- p.Ile540Phe Single submitter ⚠
- p.Ile540Thr Single submitter ⚠
- p.Ile851Thr Single submitter ⚠
- p.Ile959Val Single submitter ⚠
- p.Leu284Val Single submitter ⚠
- p.Leu404Ile Single submitter ⚠
- p.Lys178Thr Single submitter ⚠
- p.Lys277Arg Single submitter ⚠
- p.Lys292Glu Single submitter ⚠
- p.Lys367Arg Single submitter ⚠
- p.Lys397Glu Single submitter ⚠
- p.Lys641Arg Single submitter ⚠
- p.Met814Val Single submitter ⚠
- p.Met925Val Single submitter ⚠
- p.Met972Thr Single submitter ⚠
- p.Phe871Tyr Single submitter ⚠
- p.Phe932Leu Single submitter ⚠
- p.Pro112Leu Single submitter ⚠
- p.Pro205Leu Single submitter ⚠
- p.Pro328Ser Single submitter ⚠
- p.Pro505Ala Single submitter ⚠
- p.Pro599Thr Single submitter ⚠
- p.Pro643Ser Single submitter ⚠
- p.Pro844Ser Single submitter ⚠
- p.Pro845Ala Single submitter ⚠
- p.Pro885Leu Single submitter ⚠
- p.Ser177Arg Single submitter ⚠
- p.Ser177Asn Single submitter ⚠
- p.Ser232Phe Single submitter ⚠
- p.Ser306Leu Single submitter ⚠
- p.Ser382Asn Single submitter ⚠
- p.Ser443Cys Single submitter ⚠
- p.Ser48Asn Single submitter ⚠
- p.Ser554= Single submitter
- p.Ser738Cys Single submitter ⚠
- p.Ser741Cys Single submitter ⚠
- p.Ser756Gly Single submitter ⚠
- p.Ser763Cys Single submitter ⚠
- p.Ser79Arg Single submitter ⚠
- p.Ser805Asn Single submitter ⚠
- p.Ser829Tyr Single submitter ⚠
- p.Ser895Arg Single submitter ⚠
- p.Ser895Thr Single submitter ⚠
- p.Ter987Ser Single submitter
- p.Thr168Ile Single submitter ⚠
- p.Thr286= Single submitter
- p.Thr396Ala Single submitter ⚠
- p.Thr407Ile Single submitter ⚠
- p.Thr433Ala Single submitter ⚠
- p.Thr531Ala Single submitter ⚠
- p.Thr534Ala Single submitter ⚠
- p.Thr960Met Single submitter ⚠
- p.Thr974Ile Single submitter ⚠
- p.Tyr127His Single submitter ⚠
- p.Tyr488Asn Single submitter ⚠
- p.Tyr509Cys Single submitter ⚠
- p.Tyr70Phe Single submitter Epileptic encephalopathy ⚠
- p.Tyr742His Single submitter ⚠
- p.Tyr928Cys Single submitter ⚠
- p.Val114Ile Single submitter ⚠
- p.Val157Met Single submitter ⚠
- p.Val695Leu Single submitter ⚠
- p.Val916Met Single submitter ⚠
- p.Val984Leu Single submitter ⚠