EML2 — 119 ClinVar variants
All ClinVar germline EML2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →
3 Likely benign · 116 Uncertain significance
Full EML2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 116
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.
- EML2 p.Ala121Val Uncertain significance Single submitter
- EML2 p.Ala207Ser Uncertain significance Single submitter
- EML2 p.Ala302Thr Uncertain significance Single submitter
- EML2 p.Ala546Thr Uncertain significance Single submitter
- EML2 p.Ala609Asp Uncertain significance Single submitter
- EML2 p.Ala85Val Uncertain significance Single submitter
- EML2 p.Arg341His Uncertain significance Single submitter
- EML2 p.Arg422Cys Uncertain significance Single submitter
- EML2 p.Arg64Cys Uncertain significance Single submitter
- EML2 p.Arg64Gly Uncertain significance Single submitter
- EML2 p.Arg64His Uncertain significance Single submitter
- EML2 p.Asp191Glu Uncertain significance Single submitter
- EML2 p.Asp200Glu Uncertain significance Single submitter
- EML2 p.Asp451Glu Uncertain significance Single submitter
- EML2 p.Asp640Asn Uncertain significance Single submitter
- EML2 p.Asp67His Uncertain significance Single submitter
- EML2 p.Cys164Tyr Uncertain significance Single submitter
- EML2 p.Cys203Arg Uncertain significance Single submitter
- EML2 p.Gln606His Uncertain significance Single submitter
- EML2 p.Gln98Glu Uncertain significance Single submitter
- EML2 p.Glu379Asp Uncertain significance Single submitter
- EML2 p.Glu79Lys Uncertain significance Single submitter
- EML2 p.Gly156Arg Uncertain significance Single submitter
- EML2 p.Gly322Ser Uncertain significance Single submitter
- EML2 p.Gly425Ser Uncertain significance Single submitter
- EML2 p.Gly492Asp Uncertain significance Single submitter
- EML2 p.Gly560Glu Uncertain significance Single submitter
- EML2 p.Gly615Asp Uncertain significance Single submitter
- EML2 p.Gly637Val Uncertain significance Single submitter
- EML2 p.His104Asn Uncertain significance Single submitter
- EML2 p.His376Gln Uncertain significance Single submitter
- EML2 p.His505Leu Uncertain significance Single submitter
- EML2 p.Ile120Asn Uncertain significance Single submitter
- EML2 p.Ile530Thr Uncertain significance Single submitter
- EML2 p.Ile576Asn Uncertain significance Single submitter
- EML2 p.Ile576Val Uncertain significance Single submitter
- EML2 p.Leu351Val Uncertain significance Single submitter
- EML2 p.Met186Ile Uncertain significance Single submitter
- EML2 p.Met32Arg Uncertain significance Single submitter
- EML2 p.Met33Ile Uncertain significance Single submitter
- EML2 p.Met632Leu Uncertain significance Single submitter
- EML2 p.Phe600Leu Uncertain significance Single submitter
- EML2 p.Pro218Ala Uncertain significance Single submitter
- EML2 p.Ser146Phe Uncertain significance Single submitter
- EML2 p.Ser168Tyr Uncertain significance Single submitter
- EML2 p.Thr216Ala Uncertain significance Single submitter
- EML2 p.Thr523Pro Uncertain significance Single submitter
- EML2 p.Thr635Ile Uncertain significance Single submitter
- EML2 p.Trp628Cys Uncertain significance Single submitter
- EML2 p.Val208Ala Uncertain significance Single submitter
- EML2 p.Val353Leu Uncertain significance Single submitter
Predictors split 65
The independent predictors disagree with each other — read with care.
- EML2 p.Ala288Val Uncertain significance Single submitter
- EML2 p.Ala384Val Uncertain significance Single submitter
- EML2 p.Ala473Pro Uncertain significance Single submitter
- EML2 p.Ala571Val Uncertain significance Single submitter
- EML2 p.Arg242Gln Uncertain significance Single submitter
- EML2 p.Arg284His Uncertain significance Single submitter
- EML2 p.Arg304Gln Uncertain significance Single submitter
- EML2 p.Arg314Cys Uncertain significance Single submitter
- EML2 p.Arg316Trp Uncertain significance Single submitter
- EML2 p.Arg317Gln Uncertain significance Single submitter
- EML2 p.Arg317Trp Uncertain significance Single submitter
- EML2 p.Arg341Ser Uncertain significance Single submitter
- EML2 p.Arg389Trp Uncertain significance Single submitter
- EML2 p.Arg415Ser Uncertain significance Single submitter
- EML2 p.Arg54Gly Uncertain significance Single submitter
- EML2 p.Arg54Trp Uncertain significance Single submitter
- EML2 p.Arg581His Uncertain significance Single submitter
- EML2 p.Arg608Gln Uncertain significance Single submitter
- EML2 p.Arg647Gln Uncertain significance Single submitter
- EML2 p.Asn105Lys Uncertain significance Single submitter
- EML2 p.Asn174Lys Uncertain significance Single submitter
- EML2 p.Asn205Ser Uncertain significance Single submitter
- EML2 p.Asn524Ser Uncertain significance Single submitter
- EML2 p.Asp265Asn Uncertain significance Single submitter
- EML2 p.Asp294His Uncertain significance Single submitter
- EML2 p.Asp349Glu Uncertain significance Single submitter
- EML2 p.Asp471Ala Uncertain significance Single submitter
- EML2 p.Asp534Tyr Uncertain significance Single submitter
- EML2 p.Asp534Val Uncertain significance Single submitter
- EML2 p.Asp629Glu Uncertain significance Single submitter
- EML2 p.Cys257Ser Uncertain significance Single submitter
- EML2 p.Cys301Ser Uncertain significance Single submitter
- EML2 p.Cys68Ser Uncertain significance Single submitter
- EML2 p.Glu37Lys Uncertain significance Single submitter
- EML2 p.Glu418Lys Uncertain significance Single submitter
- EML2 p.Gly237Asp Uncertain significance Single submitter
- EML2 p.Gly322Arg Uncertain significance Single submitter
- EML2 p.Gly322Val Uncertain significance Single submitter
- EML2 p.Gly346Ser Uncertain significance Single submitter
- EML2 p.Gly562Arg Uncertain significance Single submitter
- EML2 p.His249Gln Uncertain significance Single submitter
- EML2 p.His583Tyr Uncertain significance Single submitter
- EML2 p.Ile229Met Uncertain significance Single submitter
- EML2 p.Leu412Pro Uncertain significance Single submitter
- EML2 p.Met186Arg Uncertain significance Single submitter
- EML2 p.Ser631Gly Uncertain significance Single submitter
- EML2 p.Ser92Gly Uncertain significance Single submitter
- EML2 p.Thr216Met Uncertain significance Single submitter
- EML2 p.Thr233Ser Likely benign Single submitter
- EML2 p.Thr286Pro Uncertain significance Single submitter
- EML2 p.Thr307Ala Uncertain significance Single submitter
- EML2 p.Tyr474Cys Uncertain significance Single submitter
- EML2 p.Tyr532Cys Uncertain significance Single submitter
- EML2 p.Tyr91Phe Uncertain significance Single submitter
- EML2 p.Val145Ile Uncertain significance Single submitter
- EML2 p.Val266Met Uncertain significance Single submitter
- EML2 p.Val289Ala Uncertain significance Single submitter
- EML2 p.Val297Met Uncertain significance Single submitter
- EML2 p.Val333Leu Uncertain significance Single submitter
- EML2 p.Val353Met Uncertain significance Single submitter
- EML2 p.Val453Met Uncertain significance Single submitter
- EML2 p.Val558Ile Uncertain significance Single submitter
- EML2 p.Val563Met Uncertain significance Single submitter
- EML2 p.Val87Ile Uncertain significance Single submitter
- EML2 p.Val93Met Uncertain significance Single submitter
All EML2 variants
Likely benign 3
- p.Ala112= Single submitter
- p.Ala544= Single submitter
- p.Thr233Ser Single submitter ⚠
Uncertain significance 116
- p.Ala121Val Single submitter ⚠
- p.Ala207Ser Single submitter ⚠
- p.Ala288Val Single submitter ⚠
- p.Ala302Thr Single submitter ⚠
- p.Ala384Val Single submitter ⚠
- p.Ala473Pro Single submitter ⚠
- p.Ala546Thr Single submitter ⚠
- p.Ala571Val Single submitter ⚠
- p.Ala609Asp Single submitter ⚠
- p.Ala85Val Single submitter ⚠
- p.Arg242Gln Single submitter ⚠
- p.Arg284His Single submitter ⚠
- p.Arg304Gln Single submitter ⚠
- p.Arg314Cys Single submitter ⚠
- p.Arg316Trp Single submitter ⚠
- p.Arg317Gln Single submitter ⚠
- p.Arg317Trp Single submitter ⚠
- p.Arg341His Single submitter ⚠
- p.Arg341Ser Single submitter ⚠
- p.Arg389Trp Single submitter ⚠
- p.Arg415Ser Single submitter ⚠
- p.Arg422Cys Single submitter ⚠
- p.Arg54Gly Single submitter ⚠
- p.Arg54Trp Single submitter ⚠
- p.Arg581His Single submitter ⚠
- p.Arg608Gln Single submitter ⚠
- p.Arg647Gln Single submitter ⚠
- p.Arg64Cys Single submitter ⚠
- p.Arg64Gly Single submitter ⚠
- p.Arg64His Single submitter ⚠
- p.Asn105Lys Single submitter ⚠
- p.Asn174Lys Single submitter ⚠
- p.Asn205Ser Single submitter ⚠
- p.Asn524Ser Single submitter ⚠
- p.Asp191Glu Single submitter ⚠
- p.Asp200Glu Single submitter ⚠
- p.Asp265Asn Single submitter ⚠
- p.Asp294His Single submitter ⚠
- p.Asp349Glu Single submitter ⚠
- p.Asp451Glu Single submitter ⚠
- p.Asp471Ala Single submitter ⚠
- p.Asp534Tyr Single submitter ⚠
- p.Asp534Val Single submitter ⚠
- p.Asp629Glu Single submitter ⚠
- p.Asp640Asn Single submitter ⚠
- p.Asp67His Single submitter ⚠
- p.Cys164Tyr Single submitter ⚠
- p.Cys203Arg Single submitter ⚠
- p.Cys257Ser Single submitter ⚠
- p.Cys301Ser Single submitter ⚠
- p.Cys68Ser Single submitter ⚠
- p.Gln606His Single submitter ⚠
- p.Gln98Glu Single submitter ⚠
- p.Glu379Asp Single submitter ⚠
- p.Glu37Lys Single submitter ⚠
- p.Glu418Lys Single submitter ⚠
- p.Glu79Lys Single submitter ⚠
- p.Gly156Arg Single submitter ⚠
- p.Gly170Arg Single submitter
- p.Gly237Asp Single submitter ⚠
- p.Gly322Arg Single submitter ⚠
- p.Gly322Ser Single submitter ⚠
- p.Gly322Val Single submitter ⚠
- p.Gly346Ser Single submitter ⚠
- p.Gly425Ser Single submitter ⚠
- p.Gly492Asp Single submitter ⚠
- p.Gly560Glu Single submitter ⚠
- p.Gly562Arg Single submitter ⚠
- p.Gly615Asp Single submitter ⚠
- p.Gly637Val Single submitter ⚠
- p.His104Asn Single submitter ⚠
- p.His249Gln Single submitter ⚠
- p.His376Gln Single submitter ⚠
- p.His505Leu Single submitter ⚠
- p.His583Tyr Single submitter ⚠
- p.Ile120Asn Single submitter ⚠
- p.Ile229Met Single submitter ⚠
- p.Ile530Thr Single submitter ⚠
- p.Ile576Asn Single submitter ⚠
- p.Ile576Val Single submitter ⚠
- p.Leu351Val Single submitter ⚠
- p.Leu412Pro Single submitter ⚠
- p.Met186Arg Single submitter ⚠
- p.Met186Ile Single submitter ⚠
- p.Met32Arg Single submitter ⚠
- p.Met33Ile Single submitter ⚠
- p.Met632Leu Single submitter ⚠
- p.Phe600Leu Single submitter ⚠
- p.Pro218Ala Single submitter ⚠
- p.Ser146Phe Single submitter ⚠
- p.Ser168Tyr Single submitter ⚠
- p.Ser631Gly Single submitter ⚠
- p.Ser92Gly Single submitter ⚠
- p.Thr216Ala Single submitter ⚠
- p.Thr216Met Single submitter ⚠
- p.Thr286Pro Single submitter ⚠
- p.Thr307Ala Single submitter ⚠
- p.Thr523Pro Single submitter ⚠
- p.Thr635Ile Single submitter ⚠
- p.Trp628Cys Single submitter ⚠
- p.Tyr474Cys Single submitter ⚠
- p.Tyr532Cys Single submitter ⚠
- p.Tyr91Phe Single submitter ⚠
- p.Val145Ile Single submitter ⚠
- p.Val208Ala Single submitter ⚠
- p.Val266Met Single submitter ⚠
- p.Val289Ala Single submitter ⚠
- p.Val297Met Single submitter ⚠
- p.Val333Leu Single submitter ⚠
- p.Val353Leu Single submitter ⚠
- p.Val353Met Single submitter ⚠
- p.Val453Met Single submitter ⚠
- p.Val558Ile Single submitter ⚠
- p.Val563Met Single submitter ⚠
- p.Val87Ile Single submitter ⚠
- p.Val93Met Single submitter ⚠