EOMES — 120 ClinVar variants
All ClinVar germline EOMES variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →
2 Conflicting · 2 Benign · 1 Benign/Likely benign · 23 Likely benign · 92 Uncertain significance
Full EOMES gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 85
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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EOMES p.Leu146Phe
Conflicting
Single submitter
microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Predictors lean, ClinVar uncertain 68
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EOMES p.Tyr231Cys Uncertain significance Multiple submitters
- EOMES p.Ala17Pro Uncertain significance Single submitter
- EOMES p.Ala206Gly Uncertain significance Single submitter
- EOMES p.Ala218Thr Uncertain significance Single submitter
- EOMES p.Ala248Gly Uncertain significance Single submitter
- EOMES p.Ala40Val Uncertain significance Single submitter
- EOMES p.Ala531Thr Uncertain significance Single submitter
- EOMES p.Ala63Thr Uncertain significance Single submitter
- EOMES p.Ala70Val Uncertain significance Single submitter
- EOMES p.Ala71Asp Uncertain significance Single submitter
- EOMES p.Ala71Thr Uncertain significance Single submitter
- EOMES p.Ala75Pro Uncertain significance Single submitter
- EOMES p.Ala85Thr Uncertain significance Single submitter
- EOMES p.Ala88Val Uncertain significance Single submitter
- EOMES p.Ala93Thr Uncertain significance Single submitter
- EOMES p.Arg507His Uncertain significance Single submitter
- EOMES p.Asn501Ser Uncertain significance Single submitter
- EOMES p.Asn650Ser Uncertain significance Single submitter
- EOMES p.Asp49Tyr Uncertain significance Single submitter
- EOMES p.Asp690Asn Uncertain significance Single submitter
- EOMES p.Cys61Arg Uncertain significance Single submitter
- EOMES p.Gln623His Uncertain significance Single submitter
- EOMES p.Glu672Gly Uncertain significance Single submitter
- EOMES p.Glu67Lys Uncertain significance Single submitter
- EOMES p.Gly150Asp Uncertain significance Single submitter
- EOMES p.Gly153Ala Uncertain significance Single submitter
- EOMES p.Gly215Ser Uncertain significance Single submitter
- EOMES p.Gly223Ser Uncertain significance Single submitter
- EOMES p.Gly223Val Uncertain significance Single submitter
- EOMES p.Gly257Asp Uncertain significance Single submitter
- EOMES p.Gly257Ser Uncertain significance Single submitter
- EOMES p.Gly259Glu Uncertain significance Single submitter
- EOMES p.Gly30Cys Uncertain significance Single submitter
- EOMES p.Gly31Arg Uncertain significance Single submitter
- EOMES p.Gly331Arg Uncertain significance Single submitter
- EOMES p.Gly490Ser Uncertain significance Single submitter
- EOMES p.His268Arg Uncertain significance Single submitter
- EOMES p.His394Arg Uncertain significance Single submitter
- EOMES p.Ile552Val Uncertain significance Single submitter
- EOMES p.Ile682Val Uncertain significance Single submitter
- EOMES p.Leu538Phe Uncertain significance Single submitter
- EOMES p.Leu7Phe Uncertain significance Single submitter
- EOMES p.Met695Leu Uncertain significance Single submitter
- EOMES p.Met79Thr Uncertain significance Single submitter
- EOMES p.Phe302Leu Uncertain significance Single submitter
- EOMES p.Pro100Ser Uncertain significance Single submitter
- EOMES p.Pro180Ala Uncertain significance Single submitter
- EOMES p.Pro21Arg Uncertain significance Single submitter
- EOMES p.Pro21Ser Uncertain significance Single submitter
- EOMES p.Pro496Arg Uncertain significance Single submitter
- EOMES p.Pro533Ser Uncertain significance Single submitter
- EOMES p.Pro589Ser Uncertain significance Single submitter
- EOMES p.Ser116Phe Uncertain significance Single submitter
- EOMES p.Ser11Leu Uncertain significance Single submitter
- EOMES p.Ser138Asn Uncertain significance Single submitter
- EOMES p.Ser222Arg Uncertain significance Single submitter
- EOMES p.Ser222Asn Uncertain significance Single submitter
- EOMES p.Ser29Arg Uncertain significance Single submitter
- EOMES p.Ser493Pro Uncertain significance Single submitter
- EOMES p.Ser561Cys Uncertain significance Single submitter
- EOMES p.Thr131Ala Uncertain significance Single submitter
- EOMES p.Thr230Ser Uncertain significance Single submitter
- EOMES p.Thr419Ser Uncertain significance Single submitter
- EOMES p.Thr614Arg Uncertain significance Single submitter
- EOMES p.Thr656Ile Uncertain significance Single submitter
- EOMES p.Tyr240Cys Uncertain significance Single submitter
- EOMES p.Val200Met Uncertain significance Single submitter
- EOMES p.Val491Ile Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- EOMES p.Ala118Pro Uncertain significance Single submitter
- EOMES p.Arg663Gln Uncertain significance Single submitter
- EOMES p.Gln284Glu Uncertain significance Single submitter
- EOMES p.Gln284Lys Uncertain significance Single submitter
- EOMES p.Gln345Lys Uncertain significance Single submitter
- EOMES p.Gly182Arg Uncertain significance Single submitter
- EOMES p.Gly213Cys Uncertain significance Single submitter
- EOMES p.Gly257Cys Uncertain significance Single submitter
- EOMES p.Gly520Asp Uncertain significance Single submitter
- EOMES p.His361Gln Uncertain significance Single submitter
- EOMES p.Ile483Thr Uncertain significance Single submitter
- EOMES p.Met344Ile Uncertain significance Single submitter
- EOMES p.Pro516Leu Uncertain significance Single submitter
- EOMES p.Pro616Ala Uncertain significance Single submitter
- EOMES p.Ser234Arg Uncertain significance Single submitter
- EOMES p.Tyr699His Uncertain significance Single submitter
All EOMES variants
Conflicting classifications of pathogenicity 2
- p.Ala119_Ala120insGlyAla Single submitter
- p.Leu146Phe Single submitter microcephaly-polymicrogyria-corpus callosum agenesis syndrome ⚠
Benign 2
- p.Pro641= Multiple submitters
- p.Ala119_Ala120insGly Single submitter
Benign/Likely benign 1
- p.Ala130dup Multiple submitters
Likely benign 23
- p.Ala129_Ala130dup Multiple submitters
- p.Glu113= Multiple submitters
- p.Ser392= Multiple submitters
- p.Ser91Arg Multiple submitters
- c.1159-9T>C Single submitter
- p.Ala126= Single submitter
- p.Ala128= Single submitter
- p.Ala69Thr Single submitter
- p.Ala96= Single submitter
- p.Asp84= Single submitter
- p.Gln6Glu Single submitter
- p.Gly236= Single submitter
- p.Ile367= Single submitter
- p.Leu443= Single submitter
- p.Lys603= Single submitter
- p.Pro244= Single submitter
- p.Thr587= Single submitter
- p.Ala120= No assertion criteria EOMES-related disorder
- p.Ala123= No assertion criteria EOMES-related disorder
- p.Ala125= No assertion criteria EOMES-related disorder
- p.Ala130del No assertion criteria EOMES-related disorder
- p.Ala33= No assertion criteria EOMES-related disorder
- p.Pro203= No assertion criteria EOMES-related disorder
Uncertain significance 92
- p.Tyr231Cys Multiple submitters ⚠
- p.Ala118Pro Single submitter ⚠
- p.Ala17Pro Single submitter ⚠
- p.Ala206Gly Single submitter ⚠
- p.Ala218Thr Single submitter ⚠
- p.Ala248Gly Single submitter ⚠
- p.Ala39= Single submitter
- p.Ala40Val Single submitter ⚠
- p.Ala531Thr Single submitter ⚠
- p.Ala63Thr Single submitter ⚠
- p.Ala70Val Single submitter ⚠
- p.Ala71Asp Single submitter ⚠
- p.Ala71Thr Single submitter ⚠
- p.Ala75Pro Single submitter ⚠
- p.Ala85Thr Single submitter ⚠
- p.Ala88Val Single submitter ⚠
- p.Ala93Thr Single submitter ⚠
- p.Arg507His Single submitter ⚠
- p.Arg663Gln Single submitter ⚠
- p.Asn501Ser Single submitter ⚠
- p.Asn548Lys Single submitter
- p.Asn650Ser Single submitter ⚠
- p.Asp49Tyr Single submitter ⚠
- p.Asp690Asn Single submitter ⚠
- p.Cys61Arg Single submitter ⚠
- p.Gln284Glu Single submitter ⚠
- p.Gln284Lys Single submitter ⚠
- p.Gln345Lys Single submitter ⚠
- p.Gln623His Single submitter ⚠
- p.Glu142Gln Single submitter
- p.Glu558Ala Single submitter
- p.Glu672Gly Single submitter ⚠
- p.Glu67Lys Single submitter ⚠
- p.Gly150Asp Single submitter ⚠
- p.Gly153Ala Single submitter ⚠
- p.Gly182Arg Single submitter ⚠
- p.Gly213Cys Single submitter ⚠
- p.Gly215Ser Single submitter ⚠
- p.Gly223Ser Single submitter ⚠
- p.Gly223Val Single submitter ⚠
- p.Gly257Asp Single submitter ⚠
- p.Gly257Cys Single submitter ⚠
- p.Gly257Ser Single submitter ⚠
- p.Gly259Glu Single submitter ⚠
- p.Gly30Cys Single submitter ⚠
- p.Gly31Arg Single submitter ⚠
- p.Gly331Arg Single submitter ⚠
- p.Gly490Ser Single submitter ⚠
- p.Gly520Asp Single submitter ⚠
- p.His268Arg Single submitter ⚠
- p.His361Gln Single submitter ⚠
- p.His394Arg Single submitter ⚠
- p.Ile483Thr Single submitter ⚠
- p.Ile552Val Single submitter ⚠
- p.Ile682Val Single submitter ⚠
- p.Leu538Phe Single submitter ⚠
- p.Leu7Phe Single submitter ⚠
- p.Met344Ile Single submitter ⚠
- p.Met344Leu Single submitter
- p.Met695Leu Single submitter ⚠
- p.Met79Ile Single submitter
- p.Met79Thr Single submitter ⚠
- p.Phe302Leu Single submitter ⚠
- p.Pro100Ser Single submitter ⚠
- p.Pro180Ala Single submitter ⚠
- p.Pro21Arg Single submitter ⚠
- p.Pro21Ser Single submitter ⚠
- p.Pro496Arg Single submitter ⚠
- p.Pro516Leu Single submitter ⚠
- p.Pro533Ser Single submitter ⚠
- p.Pro589Ser Single submitter ⚠
- p.Pro616Ala Single submitter ⚠
- p.Ser116Phe Single submitter ⚠
- p.Ser11Leu Single submitter ⚠
- p.Ser138Asn Single submitter ⚠
- p.Ser222Arg Single submitter ⚠
- p.Ser222Asn Single submitter ⚠
- p.Ser234Arg Single submitter ⚠
- p.Ser29Arg Single submitter ⚠
- p.Ser493Pro Single submitter ⚠
- p.Ser561Cys Single submitter ⚠
- p.Thr131Ala Single submitter ⚠
- p.Thr230Ser Single submitter ⚠
- p.Thr419Ser Single submitter ⚠
- p.Thr614Arg Single submitter ⚠
- p.Thr656Ile Single submitter ⚠
- p.Tyr240Cys Single submitter ⚠
- p.Tyr699His Single submitter ⚠
- p.Val200Met Single submitter ⚠
- p.Val317Ile Single submitter
- p.Val491Ile Single submitter ⚠
- p.Val515Met Single submitter