ELL3 — 56 ClinVar variants
All ClinVar germline ELL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
1 Likely benign · 55 Uncertain significance
Full ELL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELL3 p.Ala134Gly Uncertain significance Single submitter
- ELL3 p.Ala185Thr Uncertain significance Single submitter
- ELL3 p.Ala203Glu Uncertain significance Single submitter
- ELL3 p.Ala203Pro Uncertain significance Single submitter
- ELL3 p.Ala297Thr Uncertain significance Single submitter
- ELL3 p.Ala312Gly Uncertain significance Single submitter
- ELL3 p.Arg212Gly Uncertain significance Single submitter
- ELL3 p.Arg265Lys Uncertain significance Single submitter
- ELL3 p.Arg371His Uncertain significance Single submitter
- ELL3 p.Arg42Gln Uncertain significance Single submitter
- ELL3 p.Arg91His Uncertain significance Single submitter
- ELL3 p.Asp166Val Uncertain significance Single submitter
- ELL3 p.Asp214Asn Uncertain significance Single submitter
- ELL3 p.Asp350Asn Uncertain significance Single submitter
- ELL3 p.Cys373Ser Uncertain significance Single submitter
- ELL3 p.Gln154Glu Uncertain significance Single submitter
- ELL3 p.Gln202Pro Uncertain significance Single submitter
- ELL3 p.Glu227Gln Uncertain significance Single submitter
- ELL3 p.Glu6Gln Uncertain significance Single submitter
- ELL3 p.Gly173Arg Uncertain significance Single submitter
- ELL3 p.Gly243Asp Uncertain significance Single submitter
- ELL3 p.Gly243Ser Uncertain significance Single submitter
- ELL3 p.Gly396Ser Uncertain significance Single submitter
- ELL3 p.His128Gln Uncertain significance Single submitter
- ELL3 p.His183Tyr Uncertain significance Single submitter
- ELL3 p.His54Gln Uncertain significance Single submitter
- ELL3 p.Ile329Thr Uncertain significance Single submitter
- ELL3 p.Ile353Thr Uncertain significance Single submitter
- ELL3 p.Ile72Met Uncertain significance Single submitter
- ELL3 p.Ile72Val Uncertain significance Single submitter
- ELL3 p.Leu12Val Uncertain significance Single submitter
- ELL3 p.Met116Ile Uncertain significance Single submitter
- ELL3 p.Pro285Arg Uncertain significance Single submitter
- ELL3 p.Pro47Arg Uncertain significance Single submitter
- ELL3 p.Ser269Arg Uncertain significance Single submitter
- ELL3 p.Ser84Arg Uncertain significance Single submitter
- ELL3 p.Ser95Phe Uncertain significance Single submitter
- ELL3 p.Val45Ile Uncertain significance Single submitter
- ELL3 p.Val45Leu Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- ELL3 p.Arg109His Uncertain significance Single submitter
- ELL3 p.Arg212Cys Uncertain significance Single submitter
- ELL3 p.Arg217Cys Uncertain significance Single submitter
- ELL3 p.Arg35Pro Uncertain significance Single submitter
- ELL3 p.Arg371Cys Uncertain significance Single submitter
- ELL3 p.Cys40Gly Uncertain significance Single submitter
- ELL3 p.Cys40Phe Uncertain significance Single submitter
- ELL3 p.Glu39Val Uncertain significance Single submitter
- ELL3 p.Gly62Asp Uncertain significance Single submitter
- ELL3 p.Gly96Glu Uncertain significance Single submitter
- ELL3 p.Leu288Val Uncertain significance Single submitter
- ELL3 p.Lys336Asn Uncertain significance Single submitter
- ELL3 p.Pro200His Uncertain significance Single submitter
- ELL3 p.Pro63Arg Uncertain significance Single submitter
- ELL3 p.Ser170Asn Uncertain significance Single submitter
- ELL3 p.Ser179Phe Uncertain significance Single submitter
All ELL3 variants
Likely benign 1
- p.Arg339Gln Single submitter
Uncertain significance 55
- p.Ala134Gly Single submitter ⚠
- p.Ala185Thr Single submitter ⚠
- p.Ala203Glu Single submitter ⚠
- p.Ala203Pro Single submitter ⚠
- p.Ala297Thr Single submitter ⚠
- p.Ala312Gly Single submitter ⚠
- p.Arg109His Single submitter ⚠
- p.Arg212Cys Single submitter ⚠
- p.Arg212Gly Single submitter ⚠
- p.Arg217Cys Single submitter ⚠
- p.Arg265Lys Single submitter ⚠
- p.Arg35Pro Single submitter ⚠
- p.Arg371Cys Single submitter ⚠
- p.Arg371His Single submitter ⚠
- p.Arg42Gln Single submitter ⚠
- p.Arg91His Single submitter ⚠
- p.Asp166Val Single submitter ⚠
- p.Asp214Asn Single submitter ⚠
- p.Asp350Asn Single submitter ⚠
- p.Cys373Ser Single submitter ⚠
- p.Cys40Gly Single submitter ⚠
- p.Cys40Phe Single submitter ⚠
- p.Gln154Glu Single submitter ⚠
- p.Gln202Pro Single submitter ⚠
- p.Glu227Gln Single submitter ⚠
- p.Glu39Val Single submitter ⚠
- p.Glu6Gln Single submitter ⚠
- p.Gly173Arg Single submitter ⚠
- p.Gly243Asp Single submitter ⚠
- p.Gly243Ser Single submitter ⚠
- p.Gly396Ser Single submitter ⚠
- p.Gly62Asp Single submitter ⚠
- p.Gly96Glu Single submitter ⚠
- p.His128Gln Single submitter ⚠
- p.His183Tyr Single submitter ⚠
- p.His54Gln Single submitter ⚠
- p.Ile329Thr Single submitter ⚠
- p.Ile353Thr Single submitter ⚠
- p.Ile72Met Single submitter ⚠
- p.Ile72Val Single submitter ⚠
- p.Leu12Val Single submitter ⚠
- p.Leu288Val Single submitter ⚠
- p.Lys336Asn Single submitter ⚠
- p.Met116Ile Single submitter ⚠
- p.Pro200His Single submitter ⚠
- p.Pro285Arg Single submitter ⚠
- p.Pro47Arg Single submitter ⚠
- p.Pro63Arg Single submitter ⚠
- p.Ser170Asn Single submitter ⚠
- p.Ser179Phe Single submitter ⚠
- p.Ser269Arg Single submitter ⚠
- p.Ser84Arg Single submitter ⚠
- p.Ser95Phe Single submitter ⚠
- p.Val45Ile Single submitter ⚠
- p.Val45Leu Single submitter ⚠