ELOVL3 — 43 ClinVar variants
All ClinVar germline ELOVL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
3 Likely benign · 40 Uncertain significance
Full ELOVL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELOVL3 p.Ala251Ser Uncertain significance Single submitter
- ELOVL3 p.Ala75Glu Uncertain significance Single submitter
- ELOVL3 p.Asn6Ser Uncertain significance Single submitter
- ELOVL3 p.Cys229Arg Uncertain significance Single submitter
- ELOVL3 p.Glu10Asp Uncertain significance Single submitter
- ELOVL3 p.Gly176Ala Uncertain significance Single submitter
- ELOVL3 p.Gly228Glu Uncertain significance Single submitter
- ELOVL3 p.His145Tyr Uncertain significance Single submitter
- ELOVL3 p.Ile180Ser Uncertain significance Single submitter
- ELOVL3 p.Ile202Asn Uncertain significance Single submitter
- ELOVL3 p.Ile222Thr Uncertain significance Single submitter
- ELOVL3 p.Ile248Ser Uncertain significance Single submitter
- ELOVL3 p.Ile68Val Uncertain significance Single submitter
- ELOVL3 p.Leu122Phe Uncertain significance Single submitter
- ELOVL3 p.Leu122Pro Uncertain significance Single submitter
- ELOVL3 p.Leu47Phe Uncertain significance Single submitter
- ELOVL3 p.Leu94Phe Uncertain significance Single submitter
- ELOVL3 p.Met244Val Uncertain significance Single submitter
- ELOVL3 p.Met55Arg Uncertain significance Single submitter
- ELOVL3 p.Met5Val Uncertain significance Single submitter
- ELOVL3 p.Phe254Leu Uncertain significance Single submitter
- ELOVL3 p.Ser150Arg Uncertain significance Single submitter
- ELOVL3 p.Ser150Ile Uncertain significance Single submitter
- ELOVL3 p.Ser78Cys Uncertain significance Single submitter
- ELOVL3 p.Thr156Ala Uncertain significance Single submitter
- ELOVL3 p.Thr183Ala Uncertain significance Single submitter
- ELOVL3 p.Tyr33Cys Uncertain significance Single submitter
- ELOVL3 p.Val102Met Uncertain significance Single submitter
- ELOVL3 p.Val154Met Uncertain significance Single submitter
- ELOVL3 p.Val7Ile Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- ELOVL3 p.Gly96Arg Uncertain significance Single submitter
- ELOVL3 p.Gly97Ser Likely benign Single submitter
- ELOVL3 p.Ile76Asn Uncertain significance Single submitter
- ELOVL3 p.Leu93Pro Uncertain significance Single submitter
- ELOVL3 p.Met89Ile Uncertain significance Single submitter
- ELOVL3 p.Phe107Leu Uncertain significance Single submitter
- ELOVL3 p.Pro66Leu Uncertain significance Single submitter
- ELOVL3 p.Thr245Ile Uncertain significance Single submitter
- ELOVL3 p.Val7Gly Uncertain significance Single submitter
All ELOVL3 variants
Likely benign 3
- p.Gly97Ser Single submitter ⚠
- p.Ile126Val Single submitter
- p.Ile241Val Single submitter
Uncertain significance 40
- p.Ala251Ser Single submitter ⚠
- p.Ala75Glu Single submitter ⚠
- p.Arg137Cys Single submitter
- p.Arg137His Single submitter
- p.Asn6Ser Single submitter ⚠
- p.Cys229Arg Single submitter ⚠
- p.Glu10Asp Single submitter ⚠
- p.Gly176Ala Single submitter ⚠
- p.Gly228Glu Single submitter ⚠
- p.Gly96Arg Single submitter ⚠
- p.His145Tyr Single submitter ⚠
- p.Ile180Ser Single submitter ⚠
- p.Ile202Asn Single submitter ⚠
- p.Ile222Thr Single submitter ⚠
- p.Ile248Ser Single submitter ⚠
- p.Ile68Val Single submitter ⚠
- p.Ile76Asn Single submitter ⚠
- p.Leu122Phe Single submitter ⚠
- p.Leu122Pro Single submitter ⚠
- p.Leu47Phe Single submitter ⚠
- p.Leu93Pro Single submitter ⚠
- p.Leu94Phe Single submitter ⚠
- p.Met244Val Single submitter ⚠
- p.Met55Arg Single submitter ⚠
- p.Met5Val Single submitter ⚠
- p.Met89Ile Single submitter ⚠
- p.Phe107Leu Single submitter ⚠
- p.Phe254Leu Single submitter ⚠
- p.Pro66Leu Single submitter ⚠
- p.Ser150Arg Single submitter ⚠
- p.Ser150Ile Single submitter ⚠
- p.Ser78Cys Single submitter ⚠
- p.Thr156Ala Single submitter ⚠
- p.Thr183Ala Single submitter ⚠
- p.Thr245Ile Single submitter ⚠
- p.Tyr33Cys Single submitter ⚠
- p.Val102Met Single submitter ⚠
- p.Val154Met Single submitter ⚠
- p.Val7Gly Single submitter ⚠
- p.Val7Ile Single submitter ⚠