ELAVL4 — 24 ClinVar variants
All ClinVar germline ELAVL4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
24 Uncertain significance
Full ELAVL4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELAVL4 p.Arg231Gln Uncertain significance Single submitter
- ELAVL4 p.Asn30Ser Uncertain significance Single submitter
- ELAVL4 p.Asn361Ser Uncertain significance Single submitter
- ELAVL4 p.Asp96Gly Uncertain significance Single submitter
- ELAVL4 p.Gly138Ser Uncertain significance Single submitter
- ELAVL4 p.Gly23Glu Uncertain significance Single submitter
- ELAVL4 p.Ile104Val Uncertain significance Single submitter
- ELAVL4 p.Ile262Val Uncertain significance Single submitter
- ELAVL4 p.Ile264Thr Uncertain significance Single submitter
- ELAVL4 p.Lys191Arg Uncertain significance Single submitter
- ELAVL4 p.Pro32Ser Uncertain significance Single submitter
- ELAVL4 p.Ser21Asn Uncertain significance Single submitter
- ELAVL4 p.Ser86Asn Uncertain significance Single submitter
- ELAVL4 p.Thr169Ile Uncertain significance Single submitter
- ELAVL4 p.Val312Ile Uncertain significance Single submitter
- ELAVL4 p.Phe180Leu Uncertain significance No assertion criteria
-
ELAVL4 p.Val50Ile
Uncertain significance
No assertion criteria
High myopia
Predictors split 7
The independent predictors disagree with each other — read with care.
- ELAVL4 p.Arg348His Uncertain significance Single submitter
- ELAVL4 p.Asp293Asn Uncertain significance Single submitter
- ELAVL4 p.Gln150Glu Uncertain significance Single submitter
- ELAVL4 p.Gly200Ser Uncertain significance Single submitter
- ELAVL4 p.Ser153Leu Uncertain significance Single submitter
- ELAVL4 p.Thr206Asn Uncertain significance Single submitter
- ELAVL4 p.Val165Leu Uncertain significance Single submitter
All ELAVL4 variants
Uncertain significance 24
- p.Arg231Gln Single submitter ⚠
- p.Arg348His Single submitter ⚠
- p.Asn30Ser Single submitter ⚠
- p.Asn361Ser Single submitter ⚠
- p.Asp293Asn Single submitter ⚠
- p.Asp96Gly Single submitter ⚠
- p.Gln150Glu Single submitter ⚠
- p.Gly138Ser Single submitter ⚠
- p.Gly200Ser Single submitter ⚠
- p.Gly23Glu Single submitter ⚠
- p.Ile104Val Single submitter ⚠
- p.Ile262Val Single submitter ⚠
- p.Ile264Thr Single submitter ⚠
- p.Lys191Arg Single submitter ⚠
- p.Pro32Ser Single submitter ⚠
- p.Ser153Leu Single submitter ⚠
- p.Ser21Asn Single submitter ⚠
- p.Ser86Asn Single submitter ⚠
- p.Thr169Ile Single submitter ⚠
- p.Thr206Asn Single submitter ⚠
- p.Val165Leu Single submitter ⚠
- p.Val312Ile Single submitter ⚠
- p.Phe180Leu No assertion criteria ⚠
- p.Val50Ile No assertion criteria High myopia ⚠