ELOA — 107 ClinVar variants
All ClinVar germline ELOA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →
1 Benign · 2 Likely benign · 104 Uncertain significance
Full ELOA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 97
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 90
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELOA c.-18G>C Uncertain significance Single submitter
- ELOA c.-29C>T Uncertain significance Single submitter
- ELOA c.-6A>G Uncertain significance Single submitter
- ELOA c.-8T>G Uncertain significance Single submitter
- ELOA p.Ala224Ser Uncertain significance Single submitter
- ELOA p.Ala430Pro Uncertain significance Single submitter
- ELOA p.Ala490Gly Uncertain significance Single submitter
- ELOA p.Ala490Thr Uncertain significance Single submitter
- ELOA p.Arg195Thr Uncertain significance Single submitter
- ELOA p.Arg253Cys Uncertain significance Single submitter
- ELOA p.Arg253His Uncertain significance Single submitter
- ELOA p.Arg281Gln Uncertain significance Single submitter
- ELOA p.Arg496Cys Uncertain significance Single submitter
- ELOA p.Arg496His Uncertain significance Single submitter
- ELOA p.Arg528His Uncertain significance Single submitter
- ELOA p.Arg642Gln Uncertain significance Single submitter
- ELOA p.Arg678Lys Uncertain significance Single submitter
- ELOA p.Arg97Cys Uncertain significance Single submitter
- ELOA p.Arg99Gln Uncertain significance Single submitter
- ELOA p.Asn367Lys Uncertain significance Single submitter
- ELOA p.Asn494Ser Uncertain significance Single submitter
- ELOA p.Asn647Thr Uncertain significance Single submitter
- ELOA p.Asp100Gly Uncertain significance Single submitter
- ELOA p.Asp111Gly Uncertain significance Single submitter
- ELOA p.Asp127His Uncertain significance Single submitter
- ELOA p.Asp287Asn Uncertain significance Single submitter
- ELOA p.Asp287His Uncertain significance Single submitter
- ELOA p.Asp381Gly Uncertain significance Single submitter
- ELOA p.Asp449Asn Uncertain significance Single submitter
- ELOA p.Asp478Asn Uncertain significance Single submitter
- ELOA p.Gln343Glu Uncertain significance Single submitter
- ELOA p.Glu11Gln Uncertain significance Single submitter
- ELOA p.Glu140Lys Uncertain significance Single submitter
- ELOA p.Glu244Asp Uncertain significance Single submitter
- ELOA p.Glu4Gly Uncertain significance Single submitter
- ELOA p.Glu502Asp Uncertain significance Single submitter
- ELOA p.Glu522Ala Uncertain significance Single submitter
- ELOA p.Glu86Gly Uncertain significance Single submitter
- ELOA p.Gly148Arg Uncertain significance Single submitter
- ELOA p.Gly286Arg Uncertain significance Single submitter
- ELOA p.Gly386Asp Uncertain significance Single submitter
- ELOA p.Gly432Arg Uncertain significance Single submitter
- ELOA p.His176Asn Uncertain significance Single submitter
- ELOA p.His249Tyr Uncertain significance Single submitter
- ELOA p.His330Tyr Uncertain significance Single submitter
- ELOA p.Ile423Met Uncertain significance Single submitter
- ELOA p.Ile491Val Uncertain significance Single submitter
- ELOA p.Ile592Val Uncertain significance Single submitter
- ELOA p.Ile713Val Uncertain significance Single submitter
- ELOA p.Leu136Pro Uncertain significance Single submitter
- ELOA p.Leu139Val Uncertain significance Single submitter
- ELOA p.Leu345Gln Uncertain significance Single submitter
- ELOA p.Leu448Val Uncertain significance Single submitter
- ELOA p.Lys104Thr Uncertain significance Single submitter
- ELOA p.Lys144Arg Uncertain significance Single submitter
- ELOA p.Lys209Asn Uncertain significance Single submitter
- ELOA p.Lys243Arg Uncertain significance Single submitter
- ELOA p.Lys243Glu Uncertain significance Single submitter
- ELOA p.Lys292Glu Uncertain significance Single submitter
- ELOA p.Lys337Asn Uncertain significance Single submitter
- ELOA p.Lys340Glu Uncertain significance Single submitter
- ELOA p.Lys453Ile Uncertain significance Single submitter
- ELOA p.Lys456Arg Uncertain significance Single submitter
- ELOA p.Lys472Glu Uncertain significance Single submitter
- ELOA p.Lys96Glu Uncertain significance Single submitter
- ELOA p.Pro315Leu Uncertain significance Single submitter
- ELOA p.Pro372Ala Uncertain significance Single submitter
- ELOA p.Pro487Ser Uncertain significance Single submitter
- ELOA p.Pro489Ala Uncertain significance Single submitter
- ELOA p.Pro727Arg Uncertain significance Single submitter
- ELOA p.Ser137Leu Uncertain significance Single submitter
- ELOA p.Ser166Phe Uncertain significance Single submitter
- ELOA p.Ser225Gly Uncertain significance Single submitter
- ELOA p.Ser308Asn Uncertain significance Single submitter
- ELOA p.Ser341Arg Uncertain significance Single submitter
- ELOA p.Ser441Cys Uncertain significance Single submitter
- ELOA p.Ser462Ala Uncertain significance Single submitter
- ELOA p.Ser505Pro Uncertain significance Single submitter
- ELOA p.Ser711Arg Uncertain significance Single submitter
- ELOA p.Ser94Phe Uncertain significance Single submitter
- ELOA p.Thr404Ser Uncertain significance Single submitter
- ELOA p.Thr444Ile Uncertain significance Single submitter
- ELOA p.Thr444Pro Uncertain significance Single submitter
- ELOA p.Tyr29Asn Uncertain significance Single submitter
- ELOA p.Tyr544Cys Uncertain significance Single submitter
- ELOA p.Tyr744Cys Uncertain significance Single submitter
- ELOA p.Val238Ala Uncertain significance Single submitter
- ELOA p.Val255Ala Uncertain significance Single submitter
- ELOA p.Val424Met Uncertain significance Single submitter
- ELOA p.Val738Gly Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- ELOA p.Ala44Val Uncertain significance Single submitter
- ELOA p.Asp675Glu Uncertain significance Single submitter
- ELOA p.Glu83Lys Uncertain significance Single submitter
- ELOA p.Lys273Met Uncertain significance Single submitter
- ELOA p.Lys300Arg Uncertain significance Single submitter
- ELOA p.Ser714Asn Uncertain significance Single submitter
- ELOA p.Val751Leu Uncertain significance Single submitter
All ELOA variants
Benign 1
- p.Pro620= Multiple submitters
Likely benign 2
- p.Arg122Gln Single submitter
- p.Glu621Lys Single submitter
Uncertain significance 104
- c.-18G>C Single submitter ⚠
- c.-29C>T Single submitter ⚠
- c.-6A>G Single submitter ⚠
- c.-8T>G Single submitter ⚠
- p.Ala224Ser Single submitter ⚠
- p.Ala430Pro Single submitter ⚠
- p.Ala44Val Single submitter ⚠
- p.Ala490Gly Single submitter ⚠
- p.Ala490Thr Single submitter ⚠
- p.Arg195Thr Single submitter ⚠
- p.Arg253Cys Single submitter ⚠
- p.Arg253His Single submitter ⚠
- p.Arg281Gln Single submitter ⚠
- p.Arg496Cys Single submitter ⚠
- p.Arg496His Single submitter ⚠
- p.Arg528His Single submitter ⚠
- p.Arg642Gln Single submitter ⚠
- p.Arg678Lys Single submitter ⚠
- p.Arg97Cys Single submitter ⚠
- p.Arg99Gln Single submitter ⚠
- p.Asn367Lys Single submitter ⚠
- p.Asn494Ser Single submitter ⚠
- p.Asn647Thr Single submitter ⚠
- p.Asp100Gly Single submitter ⚠
- p.Asp111Gly Single submitter ⚠
- p.Asp127His Single submitter ⚠
- p.Asp287Asn Single submitter ⚠
- p.Asp287His Single submitter ⚠
- p.Asp381Gly Single submitter ⚠
- p.Asp449Asn Single submitter ⚠
- p.Asp478Asn Single submitter ⚠
- p.Asp675Glu Single submitter ⚠
- p.Gln343Glu Single submitter ⚠
- p.Gln554His Single submitter
- p.Glu11Gln Single submitter ⚠
- p.Glu140Lys Single submitter ⚠
- p.Glu244Asp Single submitter ⚠
- p.Glu4Gly Single submitter ⚠
- p.Glu502Asp Single submitter ⚠
- p.Glu522Ala Single submitter ⚠
- p.Glu681Gly Single submitter
- p.Glu83Lys Single submitter ⚠
- p.Glu86Gly Single submitter ⚠
- p.Gly148Arg Single submitter ⚠
- p.Gly286Arg Single submitter ⚠
- p.Gly386Asp Single submitter ⚠
- p.Gly432Arg Single submitter ⚠
- p.Gly47Ala Single submitter
- p.Gly570Glu Single submitter
- p.His176Asn Single submitter ⚠
- p.His249Tyr Single submitter ⚠
- p.His330Tyr Single submitter ⚠
- p.Ile423Met Single submitter ⚠
- p.Ile491Val Single submitter ⚠
- p.Ile592Val Single submitter ⚠
- p.Ile713Val Single submitter ⚠
- p.Leu136Pro Single submitter ⚠
- p.Leu139Val Single submitter ⚠
- p.Leu345Gln Single submitter ⚠
- p.Leu448Val Single submitter ⚠
- p.Lys104Thr Single submitter ⚠
- p.Lys144Arg Single submitter ⚠
- p.Lys209Asn Single submitter ⚠
- p.Lys243Arg Single submitter ⚠
- p.Lys243Glu Single submitter ⚠
- p.Lys273Met Single submitter ⚠
- p.Lys292Glu Single submitter ⚠
- p.Lys300Arg Single submitter ⚠
- p.Lys337Asn Single submitter ⚠
- p.Lys340Glu Single submitter ⚠
- p.Lys453Ile Single submitter ⚠
- p.Lys456Arg Single submitter ⚠
- p.Lys472Glu Single submitter ⚠
- p.Lys96Glu Single submitter ⚠
- p.Met548Leu Single submitter
- p.Met757Val Single submitter
- p.Pro315Leu Single submitter ⚠
- p.Pro372Ala Single submitter ⚠
- p.Pro487Ser Single submitter ⚠
- p.Pro489Ala Single submitter ⚠
- p.Pro727Arg Single submitter ⚠
- p.Ser137Leu Single submitter ⚠
- p.Ser166Phe Single submitter ⚠
- p.Ser225Gly Single submitter ⚠
- p.Ser308Asn Single submitter ⚠
- p.Ser341Arg Single submitter ⚠
- p.Ser441Cys Single submitter ⚠
- p.Ser462Ala Single submitter ⚠
- p.Ser505Pro Single submitter ⚠
- p.Ser668Pro Single submitter
- p.Ser711Arg Single submitter ⚠
- p.Ser714Asn Single submitter ⚠
- p.Ser94Phe Single submitter ⚠
- p.Thr404Ser Single submitter ⚠
- p.Thr444Ile Single submitter ⚠
- p.Thr444Pro Single submitter ⚠
- p.Tyr29Asn Single submitter ⚠
- p.Tyr544Cys Single submitter ⚠
- p.Tyr744Cys Single submitter ⚠
- p.Val238Ala Single submitter ⚠
- p.Val255Ala Single submitter ⚠
- p.Val424Met Single submitter ⚠
- p.Val738Gly Single submitter ⚠
- p.Val751Leu Single submitter ⚠