EPHA1 — 183 ClinVar variants
All ClinVar germline EPHA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 164 flagged for review →
8 Benign · 15 Likely benign · 160 Uncertain significance
Full EPHA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 164
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 93
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EPHA1 p.Ala184Val Uncertain significance Single submitter
- EPHA1 p.Ala235Thr Uncertain significance Single submitter
- EPHA1 p.Ala25Ser Uncertain significance Single submitter
- EPHA1 p.Ala335Pro Uncertain significance Single submitter
- EPHA1 p.Ala396Thr Uncertain significance Single submitter
- EPHA1 p.Ala396Val Uncertain significance Single submitter
- EPHA1 p.Ala468Gly Uncertain significance Single submitter
- EPHA1 p.Ala468Val Uncertain significance Single submitter
- EPHA1 p.Ala477Val Uncertain significance Single submitter
- EPHA1 p.Ala622Glu Uncertain significance Single submitter
- EPHA1 p.Ala868Gly Uncertain significance Single submitter
- EPHA1 p.Ala878Glu Uncertain significance Single submitter
- EPHA1 p.Arg157Gln Uncertain significance Single submitter
- EPHA1 p.Arg175Pro Uncertain significance Single submitter
- EPHA1 p.Arg473Gln Uncertain significance Single submitter
- EPHA1 p.Arg473Gly Uncertain significance Single submitter
- EPHA1 p.Arg534Gln Uncertain significance Single submitter
- EPHA1 p.Arg569Gln Uncertain significance Single submitter
- EPHA1 p.Arg672Gln Uncertain significance Single submitter
- EPHA1 p.Arg791Cys Uncertain significance Single submitter
- EPHA1 p.Arg844Trp Uncertain significance Single submitter
- EPHA1 p.Arg869His Uncertain significance Single submitter
- EPHA1 p.Arg870Trp Uncertain significance Single submitter
- EPHA1 p.Arg88His Uncertain significance Single submitter
- EPHA1 p.Arg88Leu Uncertain significance Single submitter
- EPHA1 p.Arg891Gln Uncertain significance Single submitter
- EPHA1 p.Asn84Ser Uncertain significance Single submitter
- EPHA1 p.Asp252Glu Uncertain significance Single submitter
- EPHA1 p.Asp489Asn Uncertain significance Single submitter
- EPHA1 p.Asp587Asn Uncertain significance Single submitter
- EPHA1 p.Asp775Gly Uncertain significance Single submitter
- EPHA1 p.Cys171Trp Uncertain significance Single submitter
- EPHA1 p.Cys264Gly Uncertain significance Single submitter
- EPHA1 p.Cys294Phe Uncertain significance Single submitter
- EPHA1 p.Cys650Ser Uncertain significance Single submitter
- EPHA1 p.Cys944Arg Uncertain significance Single submitter
- EPHA1 p.Gln202His Uncertain significance Single submitter
- EPHA1 p.Gln326His Uncertain significance Single submitter
- EPHA1 p.Gln347Arg Uncertain significance Single submitter
- EPHA1 p.Gln666His Uncertain significance Single submitter
- EPHA1 p.Gln955His Uncertain significance Single submitter
- EPHA1 p.Glu128Lys Uncertain significance Single submitter
- EPHA1 p.Glu269Gln Uncertain significance Single submitter
- EPHA1 p.Glu716Lys Uncertain significance Single submitter
- EPHA1 p.Gly117Arg Uncertain significance Single submitter
- EPHA1 p.Gly210Ser Uncertain significance Single submitter
- EPHA1 p.Gly267Asp Uncertain significance Single submitter
- EPHA1 p.Gly359Val Uncertain significance Single submitter
- EPHA1 p.Gly380Arg Uncertain significance Single submitter
- EPHA1 p.Gly450Asp Uncertain significance Single submitter
- EPHA1 p.Gly664Arg Uncertain significance Single submitter
- EPHA1 p.Gly786Ala Uncertain significance Single submitter
- EPHA1 p.Gly823Arg Uncertain significance Single submitter
- EPHA1 p.Gly89Arg Uncertain significance Single submitter
- EPHA1 p.Gly957Glu Uncertain significance Single submitter
- EPHA1 p.Gly962Arg Uncertain significance Single submitter
- EPHA1 p.His79Arg Uncertain significance Single submitter
- EPHA1 p.His935Gln Uncertain significance Single submitter
- EPHA1 p.Ile310Leu Uncertain significance Single submitter
- EPHA1 p.Ile790Thr Uncertain significance Single submitter
- EPHA1 p.Ile893Thr Uncertain significance Single submitter
- EPHA1 p.Leu63Met Uncertain significance Single submitter
- EPHA1 p.Leu876Ile Uncertain significance Single submitter
- EPHA1 p.Met289Ile Uncertain significance Single submitter
- EPHA1 p.Met289Lys Uncertain significance Single submitter
- EPHA1 p.Met495Val Uncertain significance Single submitter
- EPHA1 p.Met625Thr Uncertain significance Single submitter
- EPHA1 p.Met71Ile Uncertain significance Single submitter
- EPHA1 p.Met737Ile Uncertain significance Single submitter
- EPHA1 p.Phe873Leu Uncertain significance Single submitter
- EPHA1 p.Pro115Ser Uncertain significance Single submitter
- EPHA1 p.Pro239Ala Uncertain significance Single submitter
- EPHA1 p.Pro460Gln Uncertain significance Single submitter
- EPHA1 p.Pro499Leu Uncertain significance Single submitter
- EPHA1 p.Pro62Thr Uncertain significance Single submitter
- EPHA1 p.Pro663Leu Uncertain significance Single submitter
- EPHA1 p.Pro826Thr Uncertain significance Single submitter
- EPHA1 p.Pro914Leu Uncertain significance Single submitter
- EPHA1 p.Ser570Phe Uncertain significance Single submitter
- EPHA1 p.Ser662Tyr Uncertain significance Single submitter
- EPHA1 p.Ser831Cys Uncertain significance Single submitter
- EPHA1 p.Thr102Pro Uncertain significance Single submitter
- EPHA1 p.Thr230Ser Uncertain significance Single submitter
- EPHA1 p.Thr61Ser Uncertain significance Single submitter
- EPHA1 p.Thr675Ile Uncertain significance Single submitter
- EPHA1 p.Thr892Ile Uncertain significance Single submitter
- EPHA1 p.Trp467Leu Uncertain significance Single submitter
- EPHA1 p.Val103Met Uncertain significance Single submitter
- EPHA1 p.Val164Ala Uncertain significance Single submitter
- EPHA1 p.Val456Leu Uncertain significance Single submitter
- EPHA1 p.Val567Leu Uncertain significance Single submitter
- EPHA1 p.Val849Met Uncertain significance Single submitter
- EPHA1 p.Val95Leu Uncertain significance Single submitter
Predictors split 71
The independent predictors disagree with each other — read with care.
- EPHA1 p.Arg24His Benign Multiple submitters
- EPHA1 p.Ala212Ser Uncertain significance Single submitter
- EPHA1 p.Ala421Val Uncertain significance Single submitter
- EPHA1 p.Arg104Gln Uncertain significance Single submitter
- EPHA1 p.Arg139Gln Uncertain significance Single submitter
- EPHA1 p.Arg170His Uncertain significance Single submitter
- EPHA1 p.Arg178Cys Uncertain significance Single submitter
- EPHA1 p.Arg179Cys Uncertain significance Single submitter
- EPHA1 p.Arg261Gln Likely benign Single submitter
- EPHA1 p.Arg286Trp Uncertain significance Single submitter
- EPHA1 p.Arg361His Uncertain significance Single submitter
- EPHA1 p.Arg397Trp Uncertain significance Single submitter
- EPHA1 p.Arg575Trp Uncertain significance Single submitter
- EPHA1 p.Arg582Cys Uncertain significance Single submitter
- EPHA1 p.Arg582His Uncertain significance Single submitter
- EPHA1 p.Arg617Trp Uncertain significance Single submitter
- EPHA1 p.Arg640Gln Uncertain significance Single submitter
- EPHA1 p.Arg801Gly Uncertain significance Single submitter
- EPHA1 p.Arg801Trp Uncertain significance Single submitter
- EPHA1 p.Arg82Cys Uncertain significance Single submitter
- EPHA1 p.Arg844Gln Uncertain significance Single submitter
- EPHA1 p.Arg867Cys Uncertain significance Single submitter
- EPHA1 p.Arg903Cys Uncertain significance Single submitter
- EPHA1 p.Arg903His Uncertain significance Single submitter
- EPHA1 p.Arg929Cys Uncertain significance Single submitter
- EPHA1 p.Arg94His Uncertain significance Single submitter
- EPHA1 p.Asp45Glu Uncertain significance Single submitter
- EPHA1 p.Glu606Lys Uncertain significance Single submitter
- EPHA1 p.Glu618Gln Uncertain significance Single submitter
- EPHA1 p.Glu689Lys Uncertain significance Single submitter
- EPHA1 p.Glu703Asp Uncertain significance Single submitter
- EPHA1 p.Gly189Asp Uncertain significance Single submitter
- EPHA1 p.Gly260Glu Uncertain significance Single submitter
- EPHA1 p.Gly283Ser Uncertain significance Single submitter
- EPHA1 p.Gly375Ser Uncertain significance Single submitter
- EPHA1 p.Gly381Glu Uncertain significance Single submitter
- EPHA1 p.Gly938Glu Uncertain significance Single submitter
- EPHA1 p.His405Tyr Uncertain significance Single submitter
-
EPHA1 p.Ile86Phe
Uncertain significance
Single submitter
bladder exstrophy-epispadias-cloacal exstrophy complex
- EPHA1 p.Leu14Pro Uncertain significance Single submitter
- EPHA1 p.Leu15Val Uncertain significance Single submitter
- EPHA1 p.Leu295Phe Uncertain significance Single submitter
- EPHA1 p.Leu890Pro Uncertain significance Single submitter
- EPHA1 p.Lys457Met Uncertain significance Single submitter
- EPHA1 p.Phe154Ser Uncertain significance Single submitter
- EPHA1 p.Pro20His Uncertain significance Single submitter
- EPHA1 p.Pro266Ser Uncertain significance Single submitter
- EPHA1 p.Pro332Thr Uncertain significance Single submitter
- EPHA1 p.Pro394Leu Uncertain significance Single submitter
- EPHA1 p.Pro46Ala Uncertain significance Single submitter
- EPHA1 p.Pro526Arg Uncertain significance Single submitter
- EPHA1 p.Pro683Leu Uncertain significance Single submitter
- EPHA1 p.Ser342Cys Uncertain significance Single submitter
- EPHA1 p.Ser919Pro Likely benign Single submitter
- EPHA1 p.Ser936Leu Uncertain significance Single submitter
- EPHA1 p.Thr102Ser Uncertain significance Single submitter
- EPHA1 p.Thr155Ala Uncertain significance Single submitter
- EPHA1 p.Thr436Ile Uncertain significance Single submitter
- EPHA1 p.Thr901Ile Uncertain significance Single submitter
- EPHA1 p.Thr959Ile Uncertain significance Single submitter
- EPHA1 p.Tyr126Phe Uncertain significance Single submitter
- EPHA1 p.Val145Ala Uncertain significance Single submitter
- EPHA1 p.Val199Ile Uncertain significance Single submitter
- EPHA1 p.Val364Ile Uncertain significance Single submitter
- EPHA1 p.Val485Met Uncertain significance Single submitter
- EPHA1 p.Val496Ala Uncertain significance Single submitter
- EPHA1 p.Val501Ile Uncertain significance Single submitter
- EPHA1 p.Val691Ile Likely benign Single submitter
- EPHA1 p.Val746Ile Uncertain significance Single submitter
- EPHA1 p.Val809Met Uncertain significance Single submitter
- EPHA1 p.Val97Met Uncertain significance Single submitter
All EPHA1 variants
Benign 8
- c.835+8C>T Multiple submitters
- p.Ala23= Multiple submitters
- p.Arg24His Multiple submitters ⚠
- p.Glu314= Multiple submitters
- p.His872= Multiple submitters
- p.His963= Multiple submitters
- c.1771+7C>T Single submitter
- p.Ala335= Single submitter
Likely benign 15
- c.1771+10G>A Single submitter
- c.2353-10G>A Single submitter
- p.Arg175His Single submitter
- p.Arg236Gln Single submitter
- p.Arg261Gln Single submitter ⚠
- p.Arg617Gln Single submitter
- p.Arg94= Single submitter
- p.Glu275Lys Single submitter
- p.Met289Val Single submitter
- p.Ser919Pro Single submitter ⚠
- p.Thr230= Single submitter
- p.Thr358Met Single submitter
- p.Val103Leu Single submitter
- p.Val551Ile Single submitter
- p.Val691Ile Single submitter ⚠
Uncertain significance 160
- p.Ala184Val Single submitter ⚠
- p.Ala212Ser Single submitter ⚠
- p.Ala235Thr Single submitter ⚠
- p.Ala25Ser Single submitter ⚠
- p.Ala335Pro Single submitter ⚠
- p.Ala396Thr Single submitter ⚠
- p.Ala396Val Single submitter ⚠
- p.Ala421Val Single submitter ⚠
- p.Ala468Gly Single submitter ⚠
- p.Ala468Val Single submitter ⚠
- p.Ala477Val Single submitter ⚠
- p.Ala622Glu Single submitter ⚠
- p.Ala868Gly Single submitter ⚠
- p.Ala878Glu Single submitter ⚠
- p.Arg104Gln Single submitter ⚠
- p.Arg139Gln Single submitter ⚠
- p.Arg157Gln Single submitter ⚠
- p.Arg170His Single submitter ⚠
- p.Arg175Pro Single submitter ⚠
- p.Arg178Cys Single submitter ⚠
- p.Arg179Cys Single submitter ⚠
- p.Arg286Trp Single submitter ⚠
- p.Arg361His Single submitter ⚠
- p.Arg397Trp Single submitter ⚠
- p.Arg473Gln Single submitter ⚠
- p.Arg473Gly Single submitter ⚠
- p.Arg534Gln Single submitter ⚠
- p.Arg569Gln Single submitter ⚠
- p.Arg575Trp Single submitter ⚠
- p.Arg582Cys Single submitter ⚠
- p.Arg582His Single submitter ⚠
- p.Arg617Trp Single submitter ⚠
- p.Arg640Gln Single submitter ⚠
- p.Arg672Gln Single submitter ⚠
- p.Arg791Cys Single submitter ⚠
- p.Arg801Gly Single submitter ⚠
- p.Arg801Trp Single submitter ⚠
- p.Arg82Cys Single submitter ⚠
- p.Arg844Gln Single submitter ⚠
- p.Arg844Trp Single submitter ⚠
- p.Arg867Cys Single submitter ⚠
- p.Arg869His Single submitter ⚠
- p.Arg870Trp Single submitter ⚠
- p.Arg88His Single submitter ⚠
- p.Arg88Leu Single submitter ⚠
- p.Arg891Gln Single submitter ⚠
- p.Arg903Cys Single submitter ⚠
- p.Arg903His Single submitter ⚠
- p.Arg929Cys Single submitter ⚠
- p.Arg94His Single submitter ⚠
- p.Asn84Ser Single submitter ⚠
- p.Asp252Glu Single submitter ⚠
- p.Asp45Glu Single submitter ⚠
- p.Asp489Asn Single submitter ⚠
- p.Asp587Asn Single submitter ⚠
- p.Asp775Gly Single submitter ⚠
- p.Cys171Trp Single submitter ⚠
- p.Cys264Gly Single submitter ⚠
- p.Cys294Phe Single submitter ⚠
- p.Cys650Ser Single submitter ⚠
- p.Cys944Arg Single submitter ⚠
- p.Gln202His Single submitter ⚠
- p.Gln326His Single submitter ⚠
- p.Gln347Arg Single submitter ⚠
- p.Gln666His Single submitter ⚠
- p.Gln955His Single submitter ⚠
- p.Glu128Lys Single submitter ⚠
- p.Glu269Gln Single submitter ⚠
- p.Glu606Lys Single submitter ⚠
- p.Glu618Gln Single submitter ⚠
- p.Glu689Lys Single submitter ⚠
- p.Glu703Asp Single submitter ⚠
- p.Glu716Lys Single submitter ⚠
- p.Gly117Arg Single submitter ⚠
- p.Gly189Asp Single submitter ⚠
- p.Gly210Ser Single submitter ⚠
- p.Gly260Glu Single submitter ⚠
- p.Gly267Asp Single submitter ⚠
- p.Gly283Ser Single submitter ⚠
- p.Gly359Val Single submitter ⚠
- p.Gly375Ser Single submitter ⚠
- p.Gly380Arg Single submitter ⚠
- p.Gly381Glu Single submitter ⚠
- p.Gly450Asp Single submitter ⚠
- p.Gly664Arg Single submitter ⚠
- p.Gly786Ala Single submitter ⚠
- p.Gly823Arg Single submitter ⚠
- p.Gly89Arg Single submitter ⚠
- p.Gly938Glu Single submitter ⚠
- p.Gly957Glu Single submitter ⚠
- p.Gly962Arg Single submitter ⚠
- p.His405Tyr Single submitter ⚠
- p.His79Arg Single submitter ⚠
- p.His935Gln Single submitter ⚠
- p.Ile310Leu Single submitter ⚠
- p.Ile790Thr Single submitter ⚠
- p.Ile86Phe Single submitter bladder exstrophy-epispadias-cloacal exstrophy complex ⚠
- p.Ile893Thr Single submitter ⚠
- p.Leu14Pro Single submitter ⚠
- p.Leu15Val Single submitter ⚠
- p.Leu295Phe Single submitter ⚠
- p.Leu63Met Single submitter ⚠
- p.Leu876Ile Single submitter ⚠
- p.Leu890Pro Single submitter ⚠
- p.Lys457Met Single submitter ⚠
- p.Met289Ile Single submitter ⚠
- p.Met289Lys Single submitter ⚠
- p.Met495Val Single submitter ⚠
- p.Met625Thr Single submitter ⚠
- p.Met71Ile Single submitter ⚠
- p.Met737Ile Single submitter ⚠
- p.Phe154Ser Single submitter ⚠
- p.Phe873Leu Single submitter ⚠
- p.Pro115Ser Single submitter ⚠
- p.Pro20His Single submitter ⚠
- p.Pro239Ala Single submitter ⚠
- p.Pro266Ser Single submitter ⚠
- p.Pro332Thr Single submitter ⚠
- p.Pro394Leu Single submitter ⚠
- p.Pro460Gln Single submitter ⚠
- p.Pro46Ala Single submitter ⚠
- p.Pro499Leu Single submitter ⚠
- p.Pro526Arg Single submitter ⚠
- p.Pro62Thr Single submitter ⚠
- p.Pro663Leu Single submitter ⚠
- p.Pro683Leu Single submitter ⚠
- p.Pro826Thr Single submitter ⚠
- p.Pro914Leu Single submitter ⚠
- p.Ser342Cys Single submitter ⚠
- p.Ser570Phe Single submitter ⚠
- p.Ser662Tyr Single submitter ⚠
- p.Ser831Cys Single submitter ⚠
- p.Ser936Leu Single submitter ⚠
- p.Thr102Pro Single submitter ⚠
- p.Thr102Ser Single submitter ⚠
- p.Thr155Ala Single submitter ⚠
- p.Thr230Ser Single submitter ⚠
- p.Thr436Ile Single submitter ⚠
- p.Thr61Ser Single submitter ⚠
- p.Thr675Ile Single submitter ⚠
- p.Thr892Ile Single submitter ⚠
- p.Thr901Ile Single submitter ⚠
- p.Thr959Ile Single submitter ⚠
- p.Trp467Leu Single submitter ⚠
- p.Tyr126Phe Single submitter ⚠
- p.Val103Met Single submitter ⚠
- p.Val145Ala Single submitter ⚠
- p.Val164Ala Single submitter ⚠
- p.Val199Ile Single submitter ⚠
- p.Val364Ile Single submitter ⚠
- p.Val456Leu Single submitter ⚠
- p.Val485Met Single submitter ⚠
- p.Val496Ala Single submitter ⚠
- p.Val501Ile Single submitter ⚠
- p.Val567Leu Single submitter ⚠
- p.Val746Ile Single submitter ⚠
- p.Val809Met Single submitter ⚠
- p.Val849Met Single submitter ⚠
- p.Val95Leu Single submitter ⚠
- p.Val97Met Single submitter ⚠