EEA1 — 154 ClinVar variants
All ClinVar germline EEA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 131 flagged for review →
3 Benign · 7 Likely benign · 144 Uncertain significance
Full EEA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 131
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 119
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EEA1 p.Ala1092Val Uncertain significance Single submitter
- EEA1 p.Ala1184Val Uncertain significance Single submitter
- EEA1 p.Ala1245Val Uncertain significance Single submitter
- EEA1 p.Ala393Val Uncertain significance Single submitter
- EEA1 p.Ala495Ser Uncertain significance Single submitter
- EEA1 p.Ala66Gly Uncertain significance Single submitter
- EEA1 p.Ala794Val Uncertain significance Single submitter
- EEA1 p.Arg12Lys Uncertain significance Single submitter
- EEA1 p.Arg195Cys Uncertain significance Single submitter
- EEA1 p.Arg244His Uncertain significance Single submitter
- EEA1 p.Arg246Gln Uncertain significance Single submitter
- EEA1 p.Arg428His Uncertain significance Single submitter
- EEA1 p.Arg615His Uncertain significance Single submitter
- EEA1 p.Asn1074Ser Uncertain significance Single submitter
- EEA1 p.Asn1346His Uncertain significance Single submitter
- EEA1 p.Asn326Ile Uncertain significance Single submitter
- EEA1 p.Asn34Ser Uncertain significance Single submitter
- EEA1 p.Asn627Ser Uncertain significance Single submitter
- EEA1 p.Asn934Lys Uncertain significance Single submitter
- EEA1 p.Asp1062His Uncertain significance Single submitter
- EEA1 p.Asp180Asn Uncertain significance Single submitter
- EEA1 p.Asp484Gly Uncertain significance Single submitter
- EEA1 p.Cys1134Tyr Uncertain significance Single submitter
- EEA1 p.Gln1188Arg Uncertain significance Single submitter
- EEA1 p.Gln1258Arg Uncertain significance Single submitter
- EEA1 p.Gln1410Arg Uncertain significance Single submitter
- EEA1 p.Gln163Glu Uncertain significance Single submitter
- EEA1 p.Gln208Arg Uncertain significance Single submitter
- EEA1 p.Gln291Lys Uncertain significance Single submitter
- EEA1 p.Gln407Arg Uncertain significance Single submitter
- EEA1 p.Gln418Lys Uncertain significance Single submitter
- EEA1 p.Gln453Arg Uncertain significance Single submitter
- EEA1 p.Gln613Arg Uncertain significance Single submitter
- EEA1 p.Gln689Glu Uncertain significance Single submitter
- EEA1 p.Gln814His Uncertain significance Single submitter
- EEA1 p.Gln93Arg Uncertain significance Single submitter
- EEA1 p.Gln942Arg Uncertain significance Single submitter
- EEA1 p.Glu1026Gln Uncertain significance Single submitter
- EEA1 p.Glu1221Lys Uncertain significance Single submitter
- EEA1 p.Glu1224Gly Uncertain significance Single submitter
- EEA1 p.Glu123Asp Uncertain significance Single submitter
- EEA1 p.Glu1277Lys Uncertain significance Single submitter
- EEA1 p.Glu1305Lys Uncertain significance Single submitter
- EEA1 p.Glu247Asp Uncertain significance Single submitter
- EEA1 p.Glu328Gln Uncertain significance Single submitter
- EEA1 p.Glu379Val Uncertain significance Single submitter
- EEA1 p.Glu385Asp Uncertain significance Single submitter
- EEA1 p.Glu471Gly Uncertain significance Single submitter
- EEA1 p.Glu55Asp Uncertain significance Single submitter
- EEA1 p.Glu713Gln Uncertain significance Single submitter
- EEA1 p.Glu793Asp Uncertain significance Single submitter
- EEA1 p.Glu807Asp Uncertain significance Single submitter
- EEA1 p.Glu829Lys Uncertain significance Single submitter
- EEA1 p.Glu993Gln Uncertain significance Single submitter
- EEA1 p.Gly1302Glu Uncertain significance Single submitter
- EEA1 p.Gly74Arg Uncertain significance Single submitter
- EEA1 p.His1150Arg Uncertain significance Single submitter
- EEA1 p.His571Arg Uncertain significance Single submitter
- EEA1 p.His72Arg Uncertain significance Single submitter
- EEA1 p.Ile1108Val Uncertain significance Single submitter
- EEA1 p.Ile1129Val Uncertain significance Single submitter
- EEA1 p.Ile207Val Uncertain significance Single submitter
- EEA1 p.Ile27Val Uncertain significance Single submitter
- EEA1 p.Ile42Leu Uncertain significance Single submitter
- EEA1 p.Ile941Thr Uncertain significance Single submitter
- EEA1 p.Leu1043Val Uncertain significance Single submitter
- EEA1 p.Leu1196Val Uncertain significance Single submitter
- EEA1 p.Leu1218Trp Uncertain significance Single submitter
- EEA1 p.Leu344Val Uncertain significance Single submitter
- EEA1 p.Leu410Val Uncertain significance Single submitter
- EEA1 p.Leu424Val Uncertain significance Single submitter
- EEA1 p.Leu443Val Uncertain significance Single submitter
- EEA1 p.Leu697Ser Uncertain significance Single submitter
- EEA1 p.Leu740Val Uncertain significance Single submitter
- EEA1 p.Leu890Ser Uncertain significance Single submitter
- EEA1 p.Leu919Phe Uncertain significance Single submitter
- EEA1 p.Lys1081Glu Uncertain significance Single submitter
- EEA1 p.Lys1117Glu Uncertain significance Single submitter
- EEA1 p.Lys1142Glu Uncertain significance Single submitter
- EEA1 p.Lys1183Glu Uncertain significance Single submitter
- EEA1 p.Lys1388Gln Uncertain significance Single submitter
- EEA1 p.Lys192Asn Uncertain significance Single submitter
- EEA1 p.Lys227Arg Uncertain significance Single submitter
- EEA1 p.Lys333Asn Uncertain significance Single submitter
- EEA1 p.Lys370Thr Uncertain significance Single submitter
- EEA1 p.Lys734Glu Uncertain significance Single submitter
- EEA1 p.Lys809Glu Uncertain significance Single submitter
- EEA1 p.Lys870Arg Uncertain significance Single submitter
- EEA1 p.Lys923Glu Uncertain significance Single submitter
- EEA1 p.Met157Leu Uncertain significance Single submitter
- EEA1 p.Met846Arg Uncertain significance Single submitter
- EEA1 p.Met936Ile Uncertain significance Single submitter
- EEA1 p.Met936Val Uncertain significance Single submitter
- EEA1 p.Pro44Ser Uncertain significance Single submitter
- EEA1 p.Ser1015Thr Uncertain significance Single submitter
- EEA1 p.Ser1065Thr Uncertain significance Single submitter
- EEA1 p.Ser1154Arg Uncertain significance Single submitter
- EEA1 p.Ser1394Phe Uncertain significance Single submitter
- EEA1 p.Ser139Phe Uncertain significance Single submitter
- EEA1 p.Ser184Thr Uncertain significance Single submitter
- EEA1 p.Ser36Gly Uncertain significance Single submitter
- EEA1 p.Ser535Gly Uncertain significance Single submitter
-
EEA1 p.Ser633Asn
Uncertain significance
Single submitter
congenital portosystemic shunt
- EEA1 p.Ser797Gly Uncertain significance Single submitter
- EEA1 p.Thr1342Ile Uncertain significance Single submitter
- EEA1 p.Thr426Ala Uncertain significance Single submitter
- EEA1 p.Thr477Ala Uncertain significance Single submitter
- EEA1 p.Thr501Met Uncertain significance Single submitter
- EEA1 p.Thr572Ala Uncertain significance Single submitter
- EEA1 p.Thr621Ile Uncertain significance Single submitter
- EEA1 p.Thr839Ala Uncertain significance Single submitter
- EEA1 p.Thr853Ile Uncertain significance Single submitter
- EEA1 p.Thr893Ser Uncertain significance Single submitter
- EEA1 p.Tyr1036Cys Uncertain significance Single submitter
- EEA1 p.Tyr60Cys Uncertain significance Single submitter
- EEA1 p.Val330Leu Uncertain significance Single submitter
- EEA1 p.Val623Ile Uncertain significance Single submitter
- EEA1 p.Val637Phe Uncertain significance Single submitter
- EEA1 p.Val986Phe Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- EEA1 p.Arg244Cys Uncertain significance Single submitter
- EEA1 p.Arg273Met Uncertain significance Single submitter
- EEA1 p.Asp1048His Uncertain significance Single submitter
- EEA1 p.Asp1403Gly Uncertain significance Single submitter
- EEA1 p.Asp94Tyr Uncertain significance Single submitter
- EEA1 p.Gln45Pro Uncertain significance Single submitter
- EEA1 p.Gln974Pro Uncertain significance Single submitter
- EEA1 p.Glu162Lys Uncertain significance Single submitter
- EEA1 p.Glu190Gly Uncertain significance Single submitter
- EEA1 p.Gly1251Asp Uncertain significance Single submitter
- EEA1 p.Met47Ile Uncertain significance Single submitter
- EEA1 p.Val297Ala Uncertain significance Single submitter
All EEA1 variants
Benign 3
- p.Asn1072Lys Multiple submitters
- p.Tyr718= Multiple submitters
- c.245+4C>T Single submitter
Likely benign 7
- p.Ala204Thr Single submitter
- p.Ala850Thr Single submitter
- p.Arg183Lys Single submitter
- p.Asn624Ser Single submitter
- p.Asn934Ser Single submitter
- p.Ser797Asn Single submitter
- p.Thr823Ala Single submitter
Uncertain significance 144
- c.3468+1G>A Single submitter
- c.4015-1G>C Single submitter
- p.Ala1008fs Single submitter
- p.Ala1092Val Single submitter ⚠
- p.Ala1184Val Single submitter ⚠
- p.Ala1245Val Single submitter ⚠
- p.Ala393Val Single submitter ⚠
- p.Ala495Ser Single submitter ⚠
- p.Ala66Gly Single submitter ⚠
- p.Ala794Val Single submitter ⚠
- p.Arg1275Trp Single submitter
- p.Arg12Lys Single submitter ⚠
- p.Arg195Cys Single submitter ⚠
- p.Arg244Cys Single submitter ⚠
- p.Arg244His Single submitter ⚠
- p.Arg246Gln Single submitter ⚠
- p.Arg273Met Single submitter ⚠
- p.Arg428His Single submitter ⚠
- p.Arg615His Single submitter ⚠
- p.Asn1074Ser Single submitter ⚠
- p.Asn1322Ile Single submitter
- p.Asn1346His Single submitter ⚠
- p.Asn326Ile Single submitter ⚠
- p.Asn34Ser Single submitter ⚠
- p.Asn627Ser Single submitter ⚠
- p.Asn934Lys Single submitter ⚠
- p.Asp1048His Single submitter ⚠
- p.Asp1062His Single submitter ⚠
- p.Asp1403Gly Single submitter ⚠
- p.Asp180Asn Single submitter ⚠
- p.Asp484Gly Single submitter ⚠
- p.Asp520Asn Single submitter
- p.Asp94Tyr Single submitter ⚠
- p.Cys1134Tyr Single submitter ⚠
- p.Gln1188Arg Single submitter ⚠
- p.Gln1258Arg Single submitter ⚠
- p.Gln1410Arg Single submitter ⚠
- p.Gln163Glu Single submitter ⚠
- p.Gln208Arg Single submitter ⚠
- p.Gln291Lys Single submitter ⚠
- p.Gln407Arg Single submitter ⚠
- p.Gln418Lys Single submitter ⚠
- p.Gln453Arg Single submitter ⚠
- p.Gln45Pro Single submitter ⚠
- p.Gln613Arg Single submitter ⚠
- p.Gln689Glu Single submitter ⚠
- p.Gln814His Single submitter ⚠
- p.Gln93Arg Single submitter ⚠
- p.Gln942Arg Single submitter ⚠
- p.Gln974Pro Single submitter ⚠
- p.Glu1026Gln Single submitter ⚠
- p.Glu1210Ter Single submitter
- p.Glu1221Lys Single submitter ⚠
- p.Glu1224Gly Single submitter ⚠
- p.Glu123Asp Single submitter ⚠
- p.Glu1277Lys Single submitter ⚠
- p.Glu1305Lys Single submitter ⚠
- p.Glu162Lys Single submitter ⚠
- p.Glu190Gly Single submitter ⚠
- p.Glu247Asp Single submitter ⚠
- p.Glu328Gln Single submitter ⚠
- p.Glu379Val Single submitter ⚠
- p.Glu385Asp Single submitter ⚠
- p.Glu471Gly Single submitter ⚠
- p.Glu506Asp Single submitter
- p.Glu529Gly Single submitter
- p.Glu55Asp Single submitter ⚠
- p.Glu713Gln Single submitter ⚠
- p.Glu793Asp Single submitter ⚠
- p.Glu807Asp Single submitter ⚠
- p.Glu829Lys Single submitter ⚠
- p.Glu993Gln Single submitter ⚠
- p.Gly1251Asp Single submitter ⚠
- p.Gly1302Glu Single submitter ⚠
- p.Gly74Arg Single submitter ⚠
- p.His1150Arg Single submitter ⚠
- p.His571Arg Single submitter ⚠
- p.His72Arg Single submitter ⚠
- p.Ile1108Val Single submitter ⚠
- p.Ile1129Val Single submitter ⚠
- p.Ile154Asn Single submitter
- p.Ile207Val Single submitter ⚠
- p.Ile27Val Single submitter ⚠
- p.Ile42Leu Single submitter ⚠
- p.Ile941Thr Single submitter ⚠
- p.Leu1043Val Single submitter ⚠
- p.Leu1196Val Single submitter ⚠
- p.Leu1218Trp Single submitter ⚠
- p.Leu258Ser Single submitter
- p.Leu344Val Single submitter ⚠
- p.Leu410Val Single submitter ⚠
- p.Leu424Val Single submitter ⚠
- p.Leu443Val Single submitter ⚠
- p.Leu697Ser Single submitter ⚠
- p.Leu740Val Single submitter ⚠
- p.Leu819fs Single submitter
- p.Leu890Ser Single submitter ⚠
- p.Leu919Phe Single submitter ⚠
- p.Lys1081Glu Single submitter ⚠
- p.Lys1117Glu Single submitter ⚠
- p.Lys1142Glu Single submitter ⚠
- p.Lys1183Glu Single submitter ⚠
- p.Lys1388Gln Single submitter ⚠
- p.Lys192Asn Single submitter ⚠
- p.Lys227Arg Single submitter ⚠
- p.Lys333Asn Single submitter ⚠
- p.Lys370Thr Single submitter ⚠
- p.Lys734Glu Single submitter ⚠
- p.Lys809Glu Single submitter ⚠
- p.Lys870Arg Single submitter ⚠
- p.Lys923Glu Single submitter ⚠
- p.Met157Leu Single submitter ⚠
- p.Met47Ile Single submitter ⚠
- p.Met846Arg Single submitter ⚠
- p.Met936Ile Single submitter ⚠
- p.Met936Val Single submitter ⚠
- p.Pro44Ser Single submitter ⚠
- p.Ser1015Thr Single submitter ⚠
- p.Ser1065Thr Single submitter ⚠
- p.Ser1154Arg Single submitter ⚠
- p.Ser1394Phe Single submitter ⚠
- p.Ser139Phe Single submitter ⚠
- p.Ser184Thr Single submitter ⚠
- p.Ser36Gly Single submitter ⚠
- p.Ser535Gly Single submitter ⚠
- p.Ser633Asn Single submitter congenital portosystemic shunt ⚠
- p.Ser797Gly Single submitter ⚠
- p.Thr1342Ile Single submitter ⚠
- p.Thr426Ala Single submitter ⚠
- p.Thr477Ala Single submitter ⚠
- p.Thr501Met Single submitter ⚠
- p.Thr572Ala Single submitter ⚠
- p.Thr621Ile Single submitter ⚠
- p.Thr839Ala Single submitter ⚠
- p.Thr853Ile Single submitter ⚠
- p.Thr893Ser Single submitter ⚠
- p.Tyr1036Cys Single submitter ⚠
- p.Tyr179Ser Single submitter
- p.Tyr60Cys Single submitter ⚠
- p.Val297Ala Single submitter ⚠
- p.Val330Leu Single submitter ⚠
- p.Val623Ile Single submitter ⚠
- p.Val637Phe Single submitter ⚠
- p.Val986Phe Single submitter ⚠