ENKUR — 50 ClinVar variants
All ClinVar germline ENKUR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
1 Benign · 5 Likely benign · 44 Uncertain significance
Full ENKUR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ENKUR p.Gly140Glu Uncertain significance Multiple submitters
- ENKUR p.Arg80Gln Uncertain significance Single submitter
- ENKUR p.Asn77Ser Uncertain significance Single submitter
- ENKUR p.Asp38Glu Uncertain significance Single submitter
- ENKUR p.Gly131Arg Uncertain significance Single submitter
- ENKUR p.His208Tyr Uncertain significance Single submitter
- ENKUR p.Ile218Met Uncertain significance Single submitter
- ENKUR p.Ile252Val Uncertain significance Single submitter
- ENKUR p.Pro155His Uncertain significance Single submitter
- ENKUR p.Pro25Ser Uncertain significance Single submitter
- ENKUR p.Thr71Ile Uncertain significance Single submitter
- ENKUR p.Val126Ala Uncertain significance Single submitter
- ENKUR p.Val82Leu Uncertain significance Single submitter
- ENKUR p.Val88Gly Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- ENKUR p.Arg161Gln Uncertain significance Single submitter
- ENKUR p.Arg174Gly Uncertain significance Single submitter
- ENKUR p.Arg174His Likely benign Single submitter
- ENKUR p.Arg174Pro Uncertain significance Single submitter
- ENKUR p.Arg226Cys Uncertain significance Single submitter
- ENKUR p.Arg229Gly Likely benign Single submitter
- ENKUR p.Asn12Asp Uncertain significance Single submitter
- ENKUR p.Asn12Lys Uncertain significance Single submitter
- ENKUR p.Asp112Gly Uncertain significance Single submitter
- ENKUR p.Asp190Asn Uncertain significance Single submitter
- ENKUR p.Asp240Asn Uncertain significance Single submitter
- ENKUR p.Asp37Gly Uncertain significance Single submitter
- ENKUR p.Asp93Tyr Uncertain significance Single submitter
- ENKUR p.Cys9Tyr Uncertain significance Single submitter
- ENKUR p.Glu163Asp Uncertain significance Single submitter
- ENKUR p.Glu238Gln Uncertain significance Single submitter
- ENKUR p.Gly50Arg Uncertain significance Single submitter
- ENKUR p.Leu136Ile Uncertain significance Single submitter
- ENKUR p.Leu13Phe Uncertain significance Single submitter
- ENKUR p.Leu180Phe Uncertain significance Single submitter
- ENKUR p.Lys60Glu Uncertain significance Single submitter
- ENKUR p.Lys85Thr Uncertain significance Single submitter
- ENKUR p.Met97Ile Uncertain significance Single submitter
- ENKUR p.Pro123Leu Uncertain significance Single submitter
- ENKUR p.Pro15Arg Uncertain significance Single submitter
- ENKUR p.Pro15Leu Uncertain significance Single submitter
- ENKUR p.Pro24Leu Uncertain significance Single submitter
- ENKUR p.Pro73Leu Uncertain significance Single submitter
- ENKUR p.Ser189Phe Uncertain significance Single submitter
- ENKUR p.Ser7Phe Uncertain significance Single submitter
- ENKUR p.Ser7Tyr Uncertain significance Single submitter
All ENKUR variants
Benign 1
- c.448-8C>A Single submitter
Likely benign 5
- p.Ala33Thr Single submitter
- p.Arg174His Single submitter ⚠
- p.Arg229Gly Single submitter ⚠
- p.Ile28Lys Single submitter
- p.Val82Met Single submitter
Uncertain significance 44
- p.Gly140Glu Multiple submitters ⚠
- p.Arg161Gln Single submitter ⚠
- p.Arg174Gly Single submitter ⚠
- p.Arg174Pro Single submitter ⚠
- p.Arg226Cys Single submitter ⚠
- p.Arg80Gln Single submitter ⚠
- p.Asn12Asp Single submitter ⚠
- p.Asn12Lys Single submitter ⚠
- p.Asn77Ser Single submitter ⚠
- p.Asp112Gly Single submitter ⚠
- p.Asp190Asn Single submitter ⚠
- p.Asp240Asn Single submitter ⚠
- p.Asp37Gly Single submitter ⚠
- p.Asp38Glu Single submitter ⚠
- p.Asp93Tyr Single submitter ⚠
- p.Cys9Tyr Single submitter ⚠
- p.Glu163Asp Single submitter ⚠
- p.Glu238Gln Single submitter ⚠
- p.Gly131Arg Single submitter ⚠
- p.Gly50Arg Single submitter ⚠
- p.His208Tyr Single submitter ⚠
- p.Ile218Met Single submitter ⚠
- p.Ile252Val Single submitter ⚠
- p.Leu136Ile Single submitter ⚠
- p.Leu13Phe Single submitter ⚠
- p.Leu180Phe Single submitter ⚠
- p.Lys60Glu Single submitter ⚠
- p.Lys85Thr Single submitter ⚠
- p.Met97Ile Single submitter ⚠
- p.Pro123Leu Single submitter ⚠
- p.Pro155His Single submitter ⚠
- p.Pro15Arg Single submitter ⚠
- p.Pro15Leu Single submitter ⚠
- p.Pro24Leu Single submitter ⚠
- p.Pro25Ser Single submitter ⚠
- p.Pro73Leu Single submitter ⚠
- p.Ser189Phe Single submitter ⚠
- p.Ser7Phe Single submitter ⚠
- p.Ser7Tyr Single submitter ⚠
- p.Thr71Ile Single submitter ⚠
- p.Val126Ala Single submitter ⚠
- p.Val82Leu Single submitter ⚠
- p.Val88Gly Single submitter ⚠
- c.224-1del No assertion criteria