EN2 — 84 ClinVar variants
All ClinVar germline EN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →
4 Benign · 3 Likely benign · 77 Uncertain significance
Full EN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 75
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EN2 p.Ala167Ser Uncertain significance Single submitter
- EN2 p.Ala297Thr Uncertain significance Single submitter
- EN2 p.Ala40Glu Uncertain significance Single submitter
- EN2 p.Ala40Gly Uncertain significance Single submitter
- EN2 p.Ala47Pro Uncertain significance Single submitter
- EN2 p.Ala52Ser Uncertain significance Single submitter
- EN2 p.Ala90Glu Uncertain significance Single submitter
- EN2 p.Ala90Gly Uncertain significance Single submitter
- EN2 p.Arg130Gln Uncertain significance Single submitter
- EN2 p.Arg130Gly Uncertain significance Single submitter
- EN2 p.Arg246Trp Uncertain significance Single submitter
- EN2 p.Arg273Gln Uncertain significance Single submitter
- EN2 p.Asn132His Uncertain significance Single submitter
- EN2 p.Asn284Lys Uncertain significance Single submitter
- EN2 p.Asn284Ser Uncertain significance Single submitter
- EN2 p.Asn320Lys Uncertain significance Single submitter
- EN2 p.Asp178Asn Uncertain significance Single submitter
- EN2 p.Cys88Arg Uncertain significance Single submitter
- EN2 p.Glu110Asp Uncertain significance Single submitter
- EN2 p.Glu155Lys Uncertain significance Single submitter
- EN2 p.Glu254Lys Uncertain significance Single submitter
- EN2 p.Glu271Asp Uncertain significance Single submitter
- EN2 p.Gly108Ala Uncertain significance Single submitter
- EN2 p.Gly123Arg Uncertain significance Single submitter
- EN2 p.Gly154Arg Uncertain significance Single submitter
- EN2 p.Gly156Ser Uncertain significance Single submitter
- EN2 p.Gly26Ser Uncertain significance Single submitter
- EN2 p.Gly43Arg Uncertain significance Single submitter
- EN2 p.Gly58Ser Uncertain significance Single submitter
- EN2 p.His164Gln Uncertain significance Single submitter
- EN2 p.Lys182Gln Uncertain significance Single submitter
- EN2 p.Met211Ile Uncertain significance Single submitter
- EN2 p.Pro134Ser Uncertain significance Single submitter
- EN2 p.Pro142Gln Uncertain significance Single submitter
- EN2 p.Pro142Leu Uncertain significance Single submitter
- EN2 p.Pro6Thr Uncertain significance Single submitter
- EN2 p.Ser192Trp Uncertain significance Single submitter
- EN2 p.Thr270Met Uncertain significance Single submitter
Predictors split 37
The independent predictors disagree with each other — read with care.
- EN2 p.Ala109Val Uncertain significance Single submitter
- EN2 p.Ala183Thr Uncertain significance Single submitter
- EN2 p.Ala40Val Uncertain significance Single submitter
- EN2 p.Arg130Trp Uncertain significance Single submitter
- EN2 p.Arg19Trp Uncertain significance Single submitter
- EN2 p.Arg45Trp Uncertain significance Single submitter
- EN2 p.Asn68Ser Uncertain significance Single submitter
- EN2 p.Gln272Glu Uncertain significance Single submitter
- EN2 p.Gln61Glu Uncertain significance Single submitter
- EN2 p.Gly101Ser Uncertain significance Single submitter
- EN2 p.Gly102Asp Uncertain significance Single submitter
- EN2 p.Gly111Val Uncertain significance Single submitter
- EN2 p.Gly114Ser Uncertain significance Single submitter
- EN2 p.Gly116Ser Uncertain significance Single submitter
- EN2 p.Gly140Asp Uncertain significance Single submitter
- EN2 p.Gly147Val Uncertain significance Single submitter
- EN2 p.Gly157Val Uncertain significance Single submitter
- EN2 p.Gly165Arg Uncertain significance Single submitter
- EN2 p.Gly179Arg Uncertain significance Single submitter
- EN2 p.Gly188Cys Uncertain significance Single submitter
- EN2 p.Gly26Arg Uncertain significance Single submitter
- EN2 p.Gly27Arg Uncertain significance Single submitter
- EN2 p.Gly30Asp Uncertain significance Single submitter
- EN2 p.Gly38Asp Uncertain significance Single submitter
- EN2 p.Gly58Asp Uncertain significance Single submitter
- EN2 p.Gly94Glu Uncertain significance Single submitter
- EN2 p.Gly99Arg Uncertain significance Single submitter
- EN2 p.His60Tyr Uncertain significance Single submitter
- EN2 p.Pro133Thr Uncertain significance Single submitter
- EN2 p.Pro240Leu Uncertain significance Single submitter
- EN2 p.Pro63Leu Uncertain significance Single submitter
- EN2 p.Ser126Phe Uncertain significance Single submitter
- EN2 p.Ser194Thr Uncertain significance Single submitter
- EN2 p.Ser199Cys Uncertain significance Single submitter
- EN2 p.Ser282Thr Uncertain significance Single submitter
- EN2 p.Ser29Leu Uncertain significance Single submitter
- EN2 p.Thr308Met Uncertain significance Single submitter
All EN2 variants
Benign 4
Likely benign 3
- p.Ala145Gly Single submitter
- p.Gly203Ser Single submitter
- p.Ser332= Single submitter
Uncertain significance 77
- p.Ala109Val Single submitter ⚠
- p.Ala167Ser Single submitter ⚠
- p.Ala183Thr Single submitter ⚠
- p.Ala297Thr Single submitter ⚠
- p.Ala40Glu Single submitter ⚠
- p.Ala40Gly Single submitter ⚠
- p.Ala40Val Single submitter ⚠
- p.Ala47Pro Single submitter ⚠
- p.Ala52Ser Single submitter ⚠
- p.Ala90Glu Single submitter ⚠
- p.Ala90Gly Single submitter ⚠
- p.Arg130Gln Single submitter ⚠
- p.Arg130Gly Single submitter ⚠
- p.Arg130Trp Single submitter ⚠
- p.Arg19Trp Single submitter ⚠
- p.Arg246Trp Single submitter ⚠
- p.Arg273Gln Single submitter ⚠
- p.Arg45Trp Single submitter ⚠
- p.Asn132His Single submitter ⚠
- p.Asn284Lys Single submitter ⚠
- p.Asn284Ser Single submitter ⚠
- p.Asn320Lys Single submitter ⚠
- p.Asn68Ser Single submitter ⚠
- p.Asp178Asn Single submitter ⚠
- p.Cys88Arg Single submitter ⚠
- p.Gln272Glu Single submitter ⚠
- p.Gln61Glu Single submitter ⚠
- p.Glu110Asp Single submitter ⚠
- p.Glu155Lys Single submitter ⚠
- p.Glu254Lys Single submitter ⚠
- p.Glu271Asp Single submitter ⚠
- p.Gly101Ser Single submitter ⚠
- p.Gly102Asp Single submitter ⚠
- p.Gly108Ala Single submitter ⚠
- p.Gly111Val Single submitter ⚠
- p.Gly114Ser Single submitter ⚠
- p.Gly116Ser Single submitter ⚠
- p.Gly123Arg Single submitter ⚠
- p.Gly140Asp Single submitter ⚠
- p.Gly147Val Single submitter ⚠
- p.Gly154Arg Single submitter ⚠
- p.Gly156Ser Single submitter ⚠
- p.Gly157Val Single submitter ⚠
- p.Gly165Arg Single submitter ⚠
- p.Gly179Arg Single submitter ⚠
- p.Gly188Cys Single submitter ⚠
- p.Gly26Arg Single submitter ⚠
- p.Gly26Ser Single submitter ⚠
- p.Gly27Arg Single submitter ⚠
- p.Gly30Asp Single submitter ⚠
- p.Gly38Asp Single submitter ⚠
- p.Gly43Arg Single submitter ⚠
- p.Gly58Asp Single submitter ⚠
- p.Gly58Ser Single submitter ⚠
- p.Gly94Glu Single submitter ⚠
- p.Gly99Arg Single submitter ⚠
- p.His164Gln Single submitter ⚠
- p.His60Tyr Single submitter ⚠
- p.Lys182Gln Single submitter ⚠
- p.Met211Ile Single submitter ⚠
- p.Pro133Thr Single submitter ⚠
- p.Pro134Ser Single submitter ⚠
- p.Pro142Gln Single submitter ⚠
- p.Pro142Leu Single submitter ⚠
- p.Pro240Leu Single submitter ⚠
- p.Pro63Leu Single submitter ⚠
- p.Pro6Thr Single submitter ⚠
- p.Ser126Phe Single submitter ⚠
- p.Ser192Trp Single submitter ⚠
- p.Ser194Thr Single submitter ⚠
- p.Ser199Cys Single submitter ⚠
- p.Ser282Thr Single submitter ⚠
- p.Ser29Leu Single submitter ⚠
- p.Thr270Met Single submitter ⚠
- p.Thr308Met Single submitter ⚠
- c.686-1073G>A No assertion criteria autism, susceptibility to, 10
- c.686-921T>C No assertion criteria autism, susceptibility to, 10