ELOB — 28 ClinVar variants
All ClinVar germline ELOB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
2 Likely benign · 26 Uncertain significance
Full ELOB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 4
The independent predictors disagree with each other — read with care.
All ELOB variants
Uncertain significance 26
- c.*397A>G Single submitter
- c.*402C>A Single submitter
- c.*405A>G Single submitter
- c.*406C>T Single submitter
- c.*408A>G Single submitter
- c.*412C>T Single submitter
- c.*427C>A Single submitter
- c.*447G>C Single submitter
- c.*471G>C Single submitter
- c.*482C>A Single submitter
- c.*489A>G Single submitter
- c.*495G>A Single submitter
- c.*495G>C Single submitter
- c.*496T>C Single submitter
- c.*504C>T Single submitter
- c.*507T>C Single submitter
- c.*513C>A Single submitter
- p.Ala116Ser Single submitter ⚠
- p.Arg80Gln Single submitter ⚠
- p.Asp101Asn Single submitter ⚠
- p.Asp40Asn Single submitter ⚠
- p.Asp83Asn Single submitter ⚠
- p.Gly54Asp Single submitter ⚠
- p.Ile7Met Single submitter ⚠
- p.Ile90Val Single submitter ⚠
- p.Val117Ala Single submitter ⚠