ELAVL2 — 41 ClinVar variants
All ClinVar germline ELAVL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
41 Uncertain significance
Full ELAVL2 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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELAVL2 p.Ala203Gly Uncertain significance Single submitter
- ELAVL2 p.Ala231Thr Uncertain significance Single submitter
- ELAVL2 p.Ala264Val Uncertain significance Single submitter
- ELAVL2 p.Ala333Val Uncertain significance Single submitter
- ELAVL2 p.Asn12Ser Uncertain significance Single submitter
- ELAVL2 p.Asn338Asp Uncertain significance Single submitter
- ELAVL2 p.Cys25Tyr Uncertain significance Single submitter
- ELAVL2 p.Ile164Val Uncertain significance Single submitter
- ELAVL2 p.Ile177Val Uncertain significance Single submitter
- ELAVL2 p.Ile257Val Uncertain significance Single submitter
- ELAVL2 p.Ile88Val Uncertain significance Single submitter
- ELAVL2 p.Ile97Thr Uncertain significance Single submitter
- ELAVL2 p.Leu46Val Uncertain significance Single submitter
- ELAVL2 p.Lys175Arg Uncertain significance Single submitter
- ELAVL2 p.Met324Val Uncertain significance Single submitter
- ELAVL2 p.Phe252Leu Uncertain significance Single submitter
- ELAVL2 p.Pro191Thr Uncertain significance Single submitter
- ELAVL2 p.Pro9Leu Uncertain significance Single submitter
- ELAVL2 p.Ser165Leu Uncertain significance Single submitter
- ELAVL2 p.Ser26Leu Uncertain significance Single submitter
- ELAVL2 p.Val200Leu Uncertain significance Single submitter
- ELAVL2 p.Val305Met Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
-
ELAVL2 p.Asp36Asn
Uncertain significance
Multiple submitters
ELAVL2-related disorder
- ELAVL2 p.Arg150His Uncertain significance Single submitter
- ELAVL2 p.Asn16Ser Uncertain significance Single submitter
- ELAVL2 p.Asn223Asp Uncertain significance Single submitter
- ELAVL2 p.Asn326Ser Uncertain significance Single submitter
- ELAVL2 p.Asn338Ser Uncertain significance Single submitter
- ELAVL2 p.Glu140Gln Uncertain significance Single submitter
- ELAVL2 p.Gly193Cys Uncertain significance Single submitter
- ELAVL2 p.Ile278Val Uncertain significance Single submitter
- ELAVL2 p.Leu215Phe Uncertain significance Single submitter
- ELAVL2 p.Lys56Glu Uncertain significance Single submitter
- ELAVL2 p.Lys91Arg Uncertain significance Single submitter
- ELAVL2 p.Pro229Gln Uncertain significance Single submitter
- ELAVL2 p.Thr325Ala Uncertain significance Single submitter
- ELAVL2 p.Thr3Ile Uncertain significance Single submitter
- ELAVL2 p.Tyr219Cys Uncertain significance Single submitter
- ELAVL2 p.Tyr226Cys Uncertain significance Single submitter
All ELAVL2 variants
Uncertain significance 41
- p.Asp36Asn Multiple submitters ELAVL2-related disorder ⚠
- p.Ala203Gly Single submitter ⚠
- p.Ala231Thr Single submitter ⚠
- p.Ala264Val Single submitter ⚠
- p.Ala333Val Single submitter ⚠
- p.Arg150His Single submitter ⚠
- p.Asn12Ser Single submitter ⚠
- p.Asn16Ser Single submitter ⚠
- p.Asn223Asp Single submitter ⚠
- p.Asn326Ser Single submitter ⚠
- p.Asn338Asp Single submitter ⚠
- p.Asn338Ser Single submitter ⚠
- p.Cys25Tyr Single submitter ⚠
- p.Glu140Gln Single submitter ⚠
- p.Gly193Cys Single submitter ⚠
- p.Ile164Val Single submitter ⚠
- p.Ile177Val Single submitter ⚠
- p.Ile257Val Single submitter ⚠
- p.Ile278Val Single submitter ⚠
- p.Ile88Val Single submitter ⚠
- p.Ile97Thr Single submitter ⚠
- p.Leu215Phe Single submitter ⚠
- p.Leu46Val Single submitter ⚠
- p.Lys175Arg Single submitter ⚠
- p.Lys56Glu Single submitter ⚠
- p.Lys91Arg Single submitter ⚠
- p.Met324Val Single submitter ⚠
- p.Phe252Leu Single submitter ⚠
- p.Pro191Thr Single submitter ⚠
- p.Pro229Gln Single submitter ⚠
- p.Pro9Leu Single submitter ⚠
- p.Ser165Leu Single submitter ⚠
- p.Ser26Leu Single submitter ⚠
- p.Thr325Ala Single submitter ⚠
- p.Thr3Ile Single submitter ⚠
- p.Tyr219Cys Single submitter ⚠
- p.Tyr219Ter Single submitter
- p.Tyr226Cys Single submitter ⚠
- p.Val200Leu Single submitter ⚠
- p.Val305Met Single submitter ⚠
- p.Glu64Ter No assertion criteria Global developmental delay