ENO1 — 53 ClinVar variants
All ClinVar germline ENO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
2 Benign · 2 Likely benign · 49 Uncertain significance
Full ENO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ENO1 p.Ala175Val Uncertain significance Single submitter
- ENO1 p.Ala277Val Uncertain significance Single submitter
- ENO1 p.Ala76Ser Uncertain significance Single submitter
- ENO1 p.Arg15His Uncertain significance Single submitter
- ENO1 p.Arg15Ser Uncertain significance Single submitter
- ENO1 p.Arg183Gly Uncertain significance Single submitter
- ENO1 p.Arg183Leu Uncertain significance Single submitter
- ENO1 p.Arg50Gln Uncertain significance Single submitter
- ENO1 p.Asn333Lys Uncertain significance Single submitter
- ENO1 p.Asn427Ser Uncertain significance Single submitter
- ENO1 p.Asp299Gly Uncertain significance Single submitter
- ENO1 p.Cys357Tyr Uncertain significance Single submitter
- ENO1 p.Glu352Asp Uncertain significance Single submitter
- ENO1 p.Glu352Lys Uncertain significance Single submitter
- ENO1 p.Gly212Arg Uncertain significance Single submitter
- ENO1 p.Gly59Arg Uncertain significance Single submitter
- ENO1 p.Met244Val Uncertain significance Single submitter
- ENO1 p.Phe380Leu Uncertain significance Single submitter
- ENO1 p.Thr19Ile Uncertain significance Single submitter
- ENO1 p.Thr41Ala Uncertain significance Single submitter
- ENO1 p.Tyr287Ser Uncertain significance Single submitter
- ENO1 p.Tyr44Cys Uncertain significance Single submitter
- ENO1 p.Tyr57His Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- ENO1 p.Ala424Pro Uncertain significance Single submitter
- ENO1 p.Arg132Cys Uncertain significance Single submitter
- ENO1 p.Arg183Cys Uncertain significance Single submitter
- ENO1 p.Arg183His Uncertain significance Single submitter
- ENO1 p.Arg269Met Uncertain significance Single submitter
- ENO1 p.Arg56His Uncertain significance Single submitter
- ENO1 p.Asp266Glu Uncertain significance Single submitter
- ENO1 p.Glu334Lys Uncertain significance Single submitter
- ENO1 p.Glu96Lys Uncertain significance Single submitter
- ENO1 p.Gly418Ser Uncertain significance Single submitter
- ENO1 p.Ile217Val Uncertain significance Single submitter
- ENO1 p.Ile292Val Uncertain significance Single submitter
- ENO1 p.Met94Ile Uncertain significance Single submitter
- ENO1 p.Pro129Ser Uncertain significance Single submitter
- ENO1 p.Ser141Cys Uncertain significance Single submitter
- ENO1 p.Ser272Trp Uncertain significance Single submitter
- ENO1 p.Thr72Ala Uncertain significance Single submitter
- ENO1 p.Val367Ile Uncertain significance Single submitter
All ENO1 variants
Likely benign 2
- c.668-10C>T Single submitter
- p.Lys54= Single submitter
Uncertain significance 49
- p.Ala175Val Single submitter ⚠
- p.Ala204Ser Single submitter
- p.Ala277Val Single submitter ⚠
- p.Ala33Gly Single submitter
- p.Ala34Gly Single submitter
- p.Ala424Pro Single submitter ⚠
- p.Ala76Ser Single submitter ⚠
- p.Arg132Cys Single submitter ⚠
- p.Arg15His Single submitter ⚠
- p.Arg15Ser Single submitter ⚠
- p.Arg183Cys Single submitter ⚠
- p.Arg183Gly Single submitter ⚠
- p.Arg183His Single submitter ⚠
- p.Arg183Leu Single submitter ⚠
- p.Arg269Met Single submitter ⚠
- p.Arg50Gln Single submitter ⚠
- p.Arg56His Single submitter ⚠
- p.Asn333Lys Single submitter ⚠
- p.Asn427Ser Single submitter ⚠
- p.Asp266Glu Single submitter ⚠
- p.Asp266Gly Single submitter
- p.Asp299Gly Single submitter ⚠
- p.Cys357Tyr Single submitter ⚠
- p.Gln409Glu Single submitter
- p.Glu334Lys Single submitter ⚠
- p.Glu352Asp Single submitter ⚠
- p.Glu352Lys Single submitter ⚠
- p.Glu416Gly Single submitter
- p.Glu96Lys Single submitter ⚠
- p.Gly212Arg Single submitter ⚠
- p.Gly418Ser Single submitter ⚠
- p.Gly59Arg Single submitter ⚠
- p.Ile217Val Single submitter ⚠
- p.Ile292Val Single submitter ⚠
- p.Met244Val Single submitter ⚠
- p.Met94Ile Single submitter ⚠
- p.Phe106Val Single submitter
- p.Phe380Leu Single submitter ⚠
- p.Pro129Ser Single submitter ⚠
- p.Ser141Cys Single submitter ⚠
- p.Ser272Trp Single submitter ⚠
- p.Thr19Ile Single submitter ⚠
- p.Thr41Ala Single submitter ⚠
- p.Thr72Ala Single submitter ⚠
- p.Tyr287Ser Single submitter ⚠
- p.Tyr44Cys Single submitter ⚠
- p.Tyr57His Single submitter ⚠
- p.Val290Leu Single submitter
- p.Val367Ile Single submitter ⚠