ELAC1 — 46 ClinVar variants
All ClinVar germline ELAC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
1 Likely benign · 45 Uncertain significance
Full ELAC1 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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELAC1 p.Ala269Glu Uncertain significance Single submitter
- ELAC1 p.Arg179Cys Uncertain significance Single submitter
- ELAC1 p.Arg19Trp Uncertain significance Single submitter
- ELAC1 p.Arg305Cys Uncertain significance Single submitter
- ELAC1 p.Cys37Tyr Uncertain significance Single submitter
- ELAC1 p.Gln129Glu Uncertain significance Single submitter
- ELAC1 p.Gln282Leu Uncertain significance Single submitter
- ELAC1 p.Glu108Gln Uncertain significance Single submitter
- ELAC1 p.Glu134Lys Uncertain significance Single submitter
- ELAC1 p.Glu275Lys Uncertain significance Single submitter
- ELAC1 p.Gly198Arg Uncertain significance Single submitter
- ELAC1 p.Gly73Glu Uncertain significance Single submitter
- ELAC1 p.Gly83Ser Uncertain significance Single submitter
- ELAC1 p.His140Arg Uncertain significance Single submitter
- ELAC1 p.Ile233Val Uncertain significance Single submitter
- ELAC1 p.Ile250Lys Uncertain significance Single submitter
- ELAC1 p.Leu303Ser Uncertain significance Single submitter
- ELAC1 p.Lys195Thr Uncertain significance Single submitter
- ELAC1 p.Phe68Leu Uncertain significance Single submitter
- ELAC1 p.Pro147Ala Uncertain significance Single submitter
- ELAC1 p.Pro96Ser Uncertain significance Single submitter
- ELAC1 p.Ser160Leu Uncertain significance Single submitter
- ELAC1 p.Thr10Met Uncertain significance Single submitter
- ELAC1 p.Val115Leu Uncertain significance Single submitter
- ELAC1 p.Val257Leu Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- ELAC1 p.Arg100Trp Uncertain significance Single submitter
- ELAC1 p.Arg196His Uncertain significance Single submitter
- ELAC1 p.Arg27Gln Uncertain significance Single submitter
- ELAC1 p.Asp279Asn Uncertain significance Single submitter
- ELAC1 p.Gly209Asp Uncertain significance Single submitter
- ELAC1 p.Gly83Arg Uncertain significance Single submitter
- ELAC1 p.Ile156Val Uncertain significance Single submitter
- ELAC1 p.Ile78Val Uncertain significance Single submitter
- ELAC1 p.Leu123Val Uncertain significance Single submitter
- ELAC1 p.Leu158Ser Uncertain significance Single submitter
- ELAC1 p.Leu180Val Uncertain significance Single submitter
- ELAC1 p.Leu239Phe Uncertain significance Single submitter
- ELAC1 p.Lys285Thr Uncertain significance Single submitter
- ELAC1 p.Lys302Arg Uncertain significance Single submitter
- ELAC1 p.Met3Val Uncertain significance Single submitter
- ELAC1 p.Phe178Ser Uncertain significance Single submitter
- ELAC1 p.Pro211Leu Uncertain significance Single submitter
- ELAC1 p.Pro242Leu Uncertain significance Single submitter
- ELAC1 p.Ser164Thr Uncertain significance Single submitter
- ELAC1 p.Thr293Ser Uncertain significance Single submitter
All ELAC1 variants
Likely benign 1
- p.His117Arg Single submitter
Uncertain significance 45
- p.Ala269Glu Single submitter ⚠
- p.Arg100Trp Single submitter ⚠
- p.Arg179Cys Single submitter ⚠
- p.Arg196His Single submitter ⚠
- p.Arg19Trp Single submitter ⚠
- p.Arg27Gln Single submitter ⚠
- p.Arg305Cys Single submitter ⚠
- p.Asp279Asn Single submitter ⚠
- p.Cys37Tyr Single submitter ⚠
- p.Gln129Glu Single submitter ⚠
- p.Gln282Leu Single submitter ⚠
- p.Glu108Gln Single submitter ⚠
- p.Glu134Lys Single submitter ⚠
- p.Glu275Lys Single submitter ⚠
- p.Gly198Arg Single submitter ⚠
- p.Gly209Asp Single submitter ⚠
- p.Gly73Glu Single submitter ⚠
- p.Gly83Arg Single submitter ⚠
- p.Gly83Ser Single submitter ⚠
- p.His140Arg Single submitter ⚠
- p.Ile156Val Single submitter ⚠
- p.Ile233Val Single submitter ⚠
- p.Ile250Lys Single submitter ⚠
- p.Ile78Val Single submitter ⚠
- p.Leu123Val Single submitter ⚠
- p.Leu158Ser Single submitter ⚠
- p.Leu180Val Single submitter ⚠
- p.Leu239Phe Single submitter ⚠
- p.Leu303Ser Single submitter ⚠
- p.Lys195Thr Single submitter ⚠
- p.Lys285Thr Single submitter ⚠
- p.Lys302Arg Single submitter ⚠
- p.Met3Val Single submitter ⚠
- p.Phe178Ser Single submitter ⚠
- p.Phe68Leu Single submitter ⚠
- p.Pro147Ala Single submitter ⚠
- p.Pro211Leu Single submitter ⚠
- p.Pro242Leu Single submitter ⚠
- p.Pro96Ser Single submitter ⚠
- p.Ser160Leu Single submitter ⚠
- p.Ser164Thr Single submitter ⚠
- p.Thr10Met Single submitter ⚠
- p.Thr293Ser Single submitter ⚠
- p.Val115Leu Single submitter ⚠
- p.Val257Leu Single submitter ⚠