ELP5 — 57 ClinVar variants
All ClinVar germline ELP5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
3 Benign · 5 Likely benign · 49 Uncertain significance
Full ELP5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELP5 c.-17C>T Uncertain significance Multiple submitters
- ELP5 c.-11G>T Uncertain significance Single submitter
- ELP5 c.-30G>T Uncertain significance Single submitter
- ELP5 p.Arg116Cys Uncertain significance Single submitter
- ELP5 p.Arg188Gln Uncertain significance Single submitter
- ELP5 p.Arg193Cys Uncertain significance Single submitter
- ELP5 p.Arg193His Uncertain significance Single submitter
- ELP5 p.Arg269Gln Uncertain significance Single submitter
- ELP5 p.Arg269Trp Uncertain significance Single submitter
- ELP5 p.Arg53Cys Uncertain significance Single submitter
- ELP5 p.Arg63Trp Uncertain significance Single submitter
- ELP5 p.Asn61Asp Uncertain significance Single submitter
- ELP5 p.Asp133Asn Uncertain significance Single submitter
- ELP5 p.Asp224Tyr Uncertain significance Single submitter
- ELP5 p.Cys95Tyr Uncertain significance Single submitter
- ELP5 p.Gln180Arg Uncertain significance Single submitter
- ELP5 p.Gln197Arg Uncertain significance Single submitter
- ELP5 p.Gln197Glu Uncertain significance Single submitter
- ELP5 p.Glu248Gln Uncertain significance Single submitter
- ELP5 p.Gly44Cys Uncertain significance Single submitter
- ELP5 p.Gly85Arg Uncertain significance Single submitter
- ELP5 p.His67Arg Uncertain significance Single submitter
- ELP5 p.Leu211Phe Uncertain significance Single submitter
- ELP5 p.Leu6Ser Uncertain significance Single submitter
- ELP5 p.Leu8Phe Uncertain significance Single submitter
- ELP5 p.Pro215Ala Uncertain significance Single submitter
- ELP5 p.Pro270Leu Uncertain significance Single submitter
- ELP5 p.Pro84Leu Uncertain significance Single submitter
- ELP5 p.Pro84Ser Uncertain significance Single submitter
- ELP5 p.Pro84Thr Uncertain significance Single submitter
- ELP5 p.Ser182Leu Uncertain significance Single submitter
- ELP5 p.Ser202Phe Uncertain significance Single submitter
- ELP5 p.Ser219Phe Uncertain significance Single submitter
- ELP5 p.Ser223Cys Uncertain significance Single submitter
- ELP5 p.Ser277Thr Uncertain significance Single submitter
- ELP5 p.Thr98Ala Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All ELP5 variants
Benign 3
- p.Gly214Glu Multiple submitters
- c.188+4A>C Single submitter
- p.Val230Ala Single submitter
Likely benign 5
- c.-41C>T Single submitter
- p.Arg191Gln Single submitter
- p.Arg271Gly Single submitter
- p.Ile254Thr Single submitter
- p.Val161Met Single submitter
Uncertain significance 49
- c.-17C>T Multiple submitters ⚠
- c.-11G>T Single submitter ⚠
- c.-30G>T Single submitter ⚠
- p.Arg116Cys Single submitter ⚠
- p.Arg15Gly Single submitter
- p.Arg188Gln Single submitter ⚠
- p.Arg193Cys Single submitter ⚠
- p.Arg193His Single submitter ⚠
- p.Arg269Gln Single submitter ⚠
- p.Arg269Trp Single submitter ⚠
- p.Arg53Cys Single submitter ⚠
- p.Arg53Ser Single submitter ⚠
- p.Arg63Trp Single submitter ⚠
- p.Asn239Ile Single submitter
- p.Asn61Asp Single submitter ⚠
- p.Asp133Asn Single submitter ⚠
- p.Asp224Tyr Single submitter ⚠
- p.Asp290Val Single submitter
- p.Asp295His Single submitter
- p.Cys95Tyr Single submitter ⚠
- p.Gln180Arg Single submitter ⚠
- p.Gln197Arg Single submitter ⚠
- p.Gln197Glu Single submitter ⚠
- p.Glu171Gly Single submitter
- p.Glu248Gln Single submitter ⚠
- p.Gly44Cys Single submitter ⚠
- p.Gly85Arg Single submitter ⚠
- p.His67Arg Single submitter ⚠
- p.Leu204Pro Single submitter
- p.Leu211Phe Single submitter ⚠
- p.Leu6Ser Single submitter ⚠
- p.Leu88Arg Single submitter
- p.Leu8Phe Single submitter ⚠
- p.Pro215Ala Single submitter ⚠
- p.Pro270Leu Single submitter ⚠
- p.Pro73Ser Single submitter
- p.Pro84Leu Single submitter ⚠
- p.Pro84Ser Single submitter ⚠
- p.Pro84Thr Single submitter ⚠
- p.Pro87Gln Single submitter
- p.Pro87Leu Single submitter
- p.Ser182Leu Single submitter ⚠
- p.Ser202Phe Single submitter ⚠
- p.Ser219Phe Single submitter ⚠
- p.Ser223Cys Single submitter ⚠
- p.Ser277Thr Single submitter ⚠
- p.Ser33Pro Single submitter ⚠
- p.Thr98Ala Single submitter ⚠
- p.Tyr281His Single submitter