EN1 — 79 ClinVar variants
All ClinVar germline EN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →
1 Pathogenic · 10 Likely benign · 68 Uncertain significance
Full EN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 71
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EN1 p.Ala15Pro Uncertain significance Single submitter
- EN1 p.Ala195Ser Uncertain significance Single submitter
- EN1 p.Ala232Ser Uncertain significance Single submitter
- EN1 p.Ala324Thr Uncertain significance Single submitter
- EN1 p.Ala35Ser Uncertain significance Single submitter
- EN1 p.Ala87Pro Uncertain significance Single submitter
- EN1 p.Arg162Pro Uncertain significance Single submitter
- EN1 p.Arg305Gln Uncertain significance Single submitter
- EN1 p.Arg317Lys Uncertain significance Single submitter
- EN1 p.Asn257Ile Uncertain significance Single submitter
- EN1 p.Asp222Ala Uncertain significance Single submitter
- EN1 p.Cys171Tyr Uncertain significance Single submitter
- EN1 p.Gln238Arg Uncertain significance Single submitter
- EN1 p.Gln238His Uncertain significance Single submitter
- EN1 p.Gln84Arg Uncertain significance Single submitter
- EN1 p.Gln92His Uncertain significance Single submitter
- EN1 p.Glu143Gln Uncertain significance Single submitter
- EN1 p.Glu300Asp Uncertain significance Single submitter
- EN1 p.Glu390Lys Uncertain significance Single submitter
- EN1 p.Glu392Lys Uncertain significance Single submitter
- EN1 p.Gly139Ala Uncertain significance Single submitter
- EN1 p.Gly17Arg Uncertain significance Single submitter
- EN1 p.Gly182Ser Uncertain significance Single submitter
- EN1 p.Gly239Ser Uncertain significance Single submitter
- EN1 p.Gly246Ser Uncertain significance Single submitter
- EN1 p.Gly26Ser Uncertain significance Single submitter
- EN1 p.Gly42Ser Uncertain significance Single submitter
- EN1 p.Ile250Met Uncertain significance Single submitter
- EN1 p.Ile250Val Uncertain significance Single submitter
- EN1 p.Ile347Val Uncertain significance Single submitter
- EN1 p.Leu16Val Uncertain significance Single submitter
- EN1 p.Leu27Val Uncertain significance Single submitter
- EN1 p.Lys119Thr Uncertain significance Single submitter
- EN1 p.Lys365Glu Uncertain significance Single submitter
- EN1 p.Lys9Arg Uncertain significance Single submitter
- EN1 p.Met373Leu Uncertain significance Single submitter
- EN1 p.Pro124Leu Uncertain significance Single submitter
- EN1 p.Pro220Leu Uncertain significance Single submitter
- EN1 p.Pro66Leu Uncertain significance Single submitter
- EN1 p.Ser221Thr Uncertain significance Single submitter
- EN1 p.Thr103Asn Uncertain significance Single submitter
- EN1 p.Thr149Ala Uncertain significance Single submitter
- EN1 p.Thr335Ser Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- EN1 p.Ala132Thr Uncertain significance Single submitter
- EN1 p.Ala150Val Uncertain significance Single submitter
- EN1 p.Ala151Ser Uncertain significance Single submitter
- EN1 p.Ala190Val Uncertain significance Single submitter
- EN1 p.Ala192Val Uncertain significance Single submitter
- EN1 p.Ala200Val Uncertain significance Single submitter
- EN1 p.Ala207Val Uncertain significance Single submitter
- EN1 p.Ala210Thr Uncertain significance Single submitter
- EN1 p.Ala216Ser Uncertain significance Single submitter
- EN1 p.Ala232Val Likely benign Single submitter
- EN1 p.Ala61Thr Uncertain significance Single submitter
- EN1 p.Arg141Gln Uncertain significance Single submitter
- EN1 p.Gly152Cys Uncertain significance Single submitter
- EN1 p.Gly189Arg Uncertain significance Single submitter
- EN1 p.Gly227Cys Uncertain significance Single submitter
- EN1 p.Gly42Cys Uncertain significance Single submitter
- EN1 p.Pro158Thr Uncertain significance Single submitter
- EN1 p.Pro24Leu Uncertain significance Single submitter
- EN1 p.Pro56Thr Uncertain significance Single submitter
- EN1 p.Pro57Ala Uncertain significance Single submitter
- EN1 p.Pro67Arg Uncertain significance Single submitter
- EN1 p.Pro76Thr Likely benign Single submitter
- EN1 p.Pro82Ser Uncertain significance Single submitter
- EN1 p.Ser221Trp Uncertain significance Single submitter
- EN1 p.Ser228Arg Uncertain significance Single submitter
- EN1 p.Ser234Ile Uncertain significance Single submitter
- EN1 p.Ser39Arg Uncertain significance Single submitter
-
EN1 p.Pro56Ala
Likely benign
No assertion criteria
EN1-related disorder
All EN1 variants
Pathogenic 1
- p.Ile107fs No assertion criteria ENDOVE syndrome, limb-brain type
Likely benign 10
- p.Pro76= Multiple submitters
- p.Ala201= Single submitter
- p.Ala232Val Single submitter ⚠
- p.Ala61= Single submitter
- p.Cys171= Single submitter
- p.Pro76Thr Single submitter ⚠
- p.Thr23Ala Single submitter
- p.Val209_Ala218del Single submitter
- p.Pro56Ala No assertion criteria EN1-related disorder ⚠
- p.Val209_Ala216del No assertion criteria EN1-related disorder
Uncertain significance 68
- p.Ala132Thr Single submitter ⚠
- p.Ala150Val Single submitter ⚠
- p.Ala151Ser Single submitter ⚠
- p.Ala15Pro Single submitter ⚠
- p.Ala190Val Single submitter ⚠
- p.Ala192Val Single submitter ⚠
- p.Ala195Ser Single submitter ⚠
- p.Ala200Val Single submitter ⚠
- p.Ala207Val Single submitter ⚠
- p.Ala210Thr Single submitter ⚠
- p.Ala216Ser Single submitter ⚠
- p.Ala232Ser Single submitter ⚠
- p.Ala324Thr Single submitter ⚠
- p.Ala35Ser Single submitter ⚠
- p.Ala61Thr Single submitter ⚠
- p.Ala87Pro Single submitter ⚠
- p.Arg141Gln Single submitter ⚠
- p.Arg162Pro Single submitter ⚠
- p.Arg305Gln Single submitter ⚠
- p.Arg317Lys Single submitter ⚠
- p.Asn257Ile Single submitter ⚠
- p.Asp222Ala Single submitter ⚠
- p.Cys171Tyr Single submitter ⚠
- p.Gln238Arg Single submitter ⚠
- p.Gln238His Single submitter ⚠
- p.Gln84Arg Single submitter ⚠
- p.Gln92His Single submitter ⚠
- p.Glu143Gln Single submitter ⚠
- p.Glu300Asp Single submitter ⚠
- p.Glu390Lys Single submitter ⚠
- p.Glu392Lys Single submitter ⚠
- p.Gly139Ala Single submitter ⚠
- p.Gly152Cys Single submitter ⚠
- p.Gly17Arg Single submitter ⚠
- p.Gly182Ser Single submitter ⚠
- p.Gly189Arg Single submitter ⚠
- p.Gly227Cys Single submitter ⚠
- p.Gly239Ser Single submitter ⚠
- p.Gly246Ser Single submitter ⚠
- p.Gly26Ser Single submitter ⚠
- p.Gly42Cys Single submitter ⚠
- p.Gly42Ser Single submitter ⚠
- p.Ile250Met Single submitter ⚠
- p.Ile250Val Single submitter ⚠
- p.Ile347Val Single submitter ⚠
- p.Leu16Val Single submitter ⚠
- p.Leu27Val Single submitter ⚠
- p.Lys119Thr Single submitter ⚠
- p.Lys365Glu Single submitter ⚠
- p.Lys9Arg Single submitter ⚠
- p.Met373Leu Single submitter ⚠
- p.Pro124Leu Single submitter ⚠
- p.Pro158Thr Single submitter ⚠
- p.Pro220Leu Single submitter ⚠
- p.Pro24Leu Single submitter ⚠
- p.Pro56Thr Single submitter ⚠
- p.Pro57Ala Single submitter ⚠
- p.Pro66Leu Single submitter ⚠
- p.Pro67Arg Single submitter ⚠
- p.Pro82Ser Single submitter ⚠
- p.Ser221Thr Single submitter ⚠
- p.Ser221Trp Single submitter ⚠
- p.Ser228Arg Single submitter ⚠
- p.Ser234Ile Single submitter ⚠
- p.Ser39Arg Single submitter ⚠
- p.Thr103Asn Single submitter ⚠
- p.Thr149Ala Single submitter ⚠
- p.Thr335Ser Single submitter ⚠