EPHA3 — 99 ClinVar variants
All ClinVar germline EPHA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →
6 Benign · 11 Likely benign · 82 Uncertain significance
Full EPHA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 86
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 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EPHA3 p.Ala182Val Uncertain significance Single submitter
- EPHA3 p.Ala427Val Uncertain significance Single submitter
- EPHA3 p.Ala550Pro Uncertain significance Single submitter
- EPHA3 p.Ala895Val Uncertain significance Single submitter
- EPHA3 p.Arg312Trp Uncertain significance Single submitter
- EPHA3 p.Arg712Cys Uncertain significance Single submitter
- EPHA3 p.Arg750Trp Uncertain significance Single submitter
- EPHA3 p.Arg89Lys Uncertain significance Single submitter
- EPHA3 p.Asp17His Uncertain significance Single submitter
- EPHA3 p.Asp446Glu Uncertain significance Single submitter
- EPHA3 p.Asp502Gly Uncertain significance Single submitter
- EPHA3 p.Asp950Gly Uncertain significance Single submitter
- EPHA3 p.Gln607Pro Uncertain significance Single submitter
- EPHA3 p.Gln905Lys Uncertain significance Single submitter
- EPHA3 p.Gln975Arg Uncertain significance Single submitter
- EPHA3 p.Glu21Lys Uncertain significance Single submitter
- EPHA3 p.Glu374Lys Uncertain significance Single submitter
- EPHA3 p.Glu471Gln Uncertain significance Single submitter
- EPHA3 p.Glu476Lys Uncertain significance Single submitter
- EPHA3 p.Gly267Asp Uncertain significance Single submitter
- EPHA3 p.Gly300Ala Uncertain significance Single submitter
- EPHA3 p.Gly518Glu Uncertain significance Single submitter
- EPHA3 p.His927Arg Uncertain significance Single submitter
- EPHA3 p.Ile564Thr Uncertain significance Single submitter
- EPHA3 p.Ile874Ser Uncertain significance Single submitter
- EPHA3 p.Ile882Phe Uncertain significance Single submitter
- EPHA3 p.Ile966Phe Uncertain significance Single submitter
- EPHA3 p.Leu113Ser Uncertain significance Single submitter
- EPHA3 p.Leu668Pro Uncertain significance Single submitter
- EPHA3 p.Lys653Glu Uncertain significance Single submitter
- EPHA3 p.Lys800Met Uncertain significance Single submitter
- EPHA3 p.Met211Val Uncertain significance Single submitter
- EPHA3 p.Met696Thr Uncertain significance Single submitter
- EPHA3 p.Phe268Leu Uncertain significance Single submitter
- EPHA3 p.Ser377Asn Uncertain significance Single submitter
- EPHA3 p.Ser521Asn Uncertain significance Single submitter
- EPHA3 p.Ser536Ala Uncertain significance Single submitter
- EPHA3 p.Ser622Thr Uncertain significance Single submitter
- EPHA3 p.Ser672Arg Uncertain significance Single submitter
- EPHA3 p.Ser768Leu Uncertain significance Single submitter
- EPHA3 p.Thr448Ile Uncertain significance Single submitter
- EPHA3 p.Thr601Ala Uncertain significance Single submitter
- EPHA3 p.Thr67Ile Uncertain significance Single submitter
- EPHA3 p.Thr780Ser Uncertain significance Single submitter
- EPHA3 p.Thr781Lys Uncertain significance Single submitter
- EPHA3 p.Thr933Lys Uncertain significance Single submitter
- EPHA3 p.Tyr310Ser Uncertain significance Single submitter
- EPHA3 p.Tyr596Cys Uncertain significance Single submitter
- EPHA3 p.Tyr854His Uncertain significance Single submitter
- EPHA3 p.Val190Ile Uncertain significance Single submitter
- EPHA3 p.Val759Met Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- EPHA3 p.Ala777Gly Benign Multiple submitters
- EPHA3 p.Val597Ile Likely benign Multiple submitters
- EPHA3 p.Ala546Thr Uncertain significance Single submitter
- EPHA3 p.Arg639Ser Uncertain significance Single submitter
- EPHA3 p.Arg684Gln Uncertain significance Single submitter
- EPHA3 p.Asn233Ser Uncertain significance Single submitter
- EPHA3 p.Asp350Glu Uncertain significance Single submitter
- EPHA3 p.Gln717Arg Uncertain significance Single submitter
- EPHA3 p.Glu307Lys Uncertain significance Single submitter
- EPHA3 p.Glu525Val Uncertain significance Single submitter
- EPHA3 p.Gly586Glu Uncertain significance Single submitter
- EPHA3 p.Gly586Val Uncertain significance Single submitter
- EPHA3 p.Gly592Asp Uncertain significance Single submitter
- EPHA3 p.Gly741Cys Uncertain significance Single submitter
- EPHA3 p.Gly886Cys Uncertain significance Single submitter
- EPHA3 p.Gly955Arg Uncertain significance Single submitter
- EPHA3 p.Ile342Thr Uncertain significance Single submitter
- EPHA3 p.Ile45Met Uncertain significance Single submitter
- EPHA3 p.Ile652Leu Uncertain significance Single submitter
- EPHA3 p.Leu590Phe Uncertain significance Single submitter
- EPHA3 p.Leu902Phe Uncertain significance Single submitter
- EPHA3 p.Lys364Gln Uncertain significance Single submitter
- EPHA3 p.Lys571Arg Uncertain significance Single submitter
- EPHA3 p.Phe524Ser Uncertain significance Single submitter
- EPHA3 p.Pro846Ala Uncertain significance Single submitter
- EPHA3 p.Ser319Pro Uncertain significance Single submitter
- EPHA3 p.Ser328Leu Uncertain significance Single submitter
- EPHA3 p.Thr205Ala Uncertain significance Single submitter
- EPHA3 p.Thr442Met Uncertain significance Single submitter
- EPHA3 p.Thr557Pro Uncertain significance Single submitter
- EPHA3 p.Val231Ile Uncertain significance Single submitter
- EPHA3 p.Val695Leu Uncertain significance Single submitter
- EPHA3 p.Val958Met Uncertain significance Single submitter
-
EPHA3 p.Glu298Gln
Likely benign
No assertion criteria
EPHA3-related disorder
-
EPHA3 p.Lys713Thr
Likely benign
No assertion criteria
EPHA3-related disorder
All EPHA3 variants
Benign 6
Likely benign 11
- p.Val597Ile Multiple submitters ⚠
- p.Ala427= Single submitter
- p.Val542= Single submitter
- c.1432-7C>T No assertion criteria EPHA3-related disorder
- p.Arg883= No assertion criteria EPHA3-related disorder
- p.Glu298Gln No assertion criteria EPHA3-related disorder ⚠
- p.Ile648= No assertion criteria EPHA3-related disorder
- p.Leu281= No assertion criteria EPHA3-related disorder
- p.Lys713Thr No assertion criteria EPHA3-related disorder ⚠
- p.Phe801Tyr No assertion criteria EPHA3-related disorder
- p.Pro24= No assertion criteria EPHA3-related disorder
Uncertain significance 82
- p.Ala182Val Single submitter ⚠
- p.Ala427Val Single submitter ⚠
- p.Ala546Thr Single submitter ⚠
- p.Ala550Pro Single submitter ⚠
- p.Ala895Val Single submitter ⚠
- p.Arg312Trp Single submitter ⚠
- p.Arg639Ser Single submitter ⚠
- p.Arg684Gln Single submitter ⚠
- p.Arg712Cys Single submitter ⚠
- p.Arg750Trp Single submitter ⚠
- p.Arg89Lys Single submitter ⚠
- p.Asn233Ser Single submitter ⚠
- p.Asp17His Single submitter ⚠
- p.Asp350Glu Single submitter ⚠
- p.Asp446Glu Single submitter ⚠
- p.Asp502Gly Single submitter ⚠
- p.Asp950Gly Single submitter ⚠
- p.Gln607Pro Single submitter ⚠
- p.Gln717Arg Single submitter ⚠
- p.Gln905Lys Single submitter ⚠
- p.Gln975Arg Single submitter ⚠
- p.Glu21Lys Single submitter ⚠
- p.Glu307Lys Single submitter ⚠
- p.Glu374Lys Single submitter ⚠
- p.Glu471Gln Single submitter ⚠
- p.Glu476Lys Single submitter ⚠
- p.Glu525Val Single submitter ⚠
- p.Gly267Asp Single submitter ⚠
- p.Gly300Ala Single submitter ⚠
- p.Gly518Glu Single submitter ⚠
- p.Gly586Glu Single submitter ⚠
- p.Gly586Val Single submitter ⚠
- p.Gly592Asp Single submitter ⚠
- p.Gly741Cys Single submitter ⚠
- p.Gly886Cys Single submitter ⚠
- p.Gly955Arg Single submitter ⚠
- p.His927Arg Single submitter ⚠
- p.Ile342Thr Single submitter ⚠
- p.Ile45Met Single submitter ⚠
- p.Ile564Thr Single submitter ⚠
- p.Ile652Leu Single submitter ⚠
- p.Ile874Ser Single submitter ⚠
- p.Ile882Phe Single submitter ⚠
- p.Ile966Phe Single submitter ⚠
- p.Leu113Ser Single submitter ⚠
- p.Leu590Phe Single submitter ⚠
- p.Leu668Pro Single submitter ⚠
- p.Leu902Phe Single submitter ⚠
- p.Lys364Gln Single submitter ⚠
- p.Lys571Arg Single submitter ⚠
- p.Lys653Glu Single submitter ⚠
- p.Lys800Met Single submitter ⚠
- p.Met211Val Single submitter ⚠
- p.Met696Thr Single submitter ⚠
- p.Phe268Leu Single submitter ⚠
- p.Phe524Ser Single submitter ⚠
- p.Pro846Ala Single submitter ⚠
- p.Ser319Pro Single submitter ⚠
- p.Ser328Leu Single submitter ⚠
- p.Ser377Asn Single submitter ⚠
- p.Ser521Asn Single submitter ⚠
- p.Ser536Ala Single submitter ⚠
- p.Ser622Thr Single submitter ⚠
- p.Ser672Arg Single submitter ⚠
- p.Ser768Leu Single submitter ⚠
- p.Thr205Ala Single submitter ⚠
- p.Thr442Met Single submitter ⚠
- p.Thr448Ile Single submitter ⚠
- p.Thr557Pro Single submitter ⚠
- p.Thr601Ala Single submitter ⚠
- p.Thr67Ile Single submitter ⚠
- p.Thr780Ser Single submitter ⚠
- p.Thr781Lys Single submitter ⚠
- p.Thr933Lys Single submitter ⚠
- p.Tyr310Ser Single submitter ⚠
- p.Tyr596Cys Single submitter ⚠
- p.Tyr854His Single submitter ⚠
- p.Val190Ile Single submitter ⚠
- p.Val231Ile Single submitter ⚠
- p.Val695Leu Single submitter ⚠
- p.Val759Met Single submitter ⚠
- p.Val958Met Single submitter ⚠