ELP3 — 62 ClinVar variants
All ClinVar germline ELP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
2 Benign · 1 Likely benign · 59 Uncertain significance
Full ELP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELP3 p.Ala47Thr Uncertain significance Single submitter
- ELP3 p.Arg136Ser Uncertain significance Single submitter
- ELP3 p.Arg230Gln Uncertain significance Single submitter
- ELP3 p.Arg2Lys Uncertain significance Single submitter
- ELP3 p.Arg416Gln Uncertain significance Single submitter
- ELP3 p.Arg424Ser Uncertain significance Single submitter
-
ELP3 p.Arg462His
Uncertain significance
Single submitter
amyotrophic lateral sclerosis
- ELP3 p.Asn200Ser Uncertain significance Single submitter
- ELP3 p.Asp117Asn Uncertain significance Single submitter
- ELP3 p.Cys227Tyr Uncertain significance Single submitter
- ELP3 p.Gln3Arg Uncertain significance Single submitter
- ELP3 p.Glu458Gly Uncertain significance Single submitter
- ELP3 p.Glu464Lys Uncertain significance Single submitter
- ELP3 p.Gly172Arg Uncertain significance Single submitter
- ELP3 p.Gly261Asp Uncertain significance Single submitter
- ELP3 p.Gly278Ser Uncertain significance Single submitter
- ELP3 p.Gly377Arg Uncertain significance Single submitter
- ELP3 p.Gly516Arg Uncertain significance Single submitter
- ELP3 p.Ile245Thr Uncertain significance Single submitter
- ELP3 p.Ile61Thr Uncertain significance Single submitter
- ELP3 p.Lys70Arg Uncertain significance Single submitter
- ELP3 p.Phe271Leu Uncertain significance Single submitter
- ELP3 p.Ser249Asn Uncertain significance Single submitter
- ELP3 p.Ser522Leu Uncertain significance Single submitter
- ELP3 p.Thr320Asn Uncertain significance Single submitter
- ELP3 p.Thr435Ile Uncertain significance Single submitter
- ELP3 p.Tyr181Phe Uncertain significance Single submitter
- ELP3 p.Tyr478Ser Uncertain significance Single submitter
- ELP3 p.Tyr535His Uncertain significance Single submitter
- ELP3 p.Val165Met Uncertain significance Single submitter
- ELP3 p.Val247Ala Uncertain significance Single submitter
- ELP3 p.Val282Met Uncertain significance Single submitter
- ELP3 p.Val362Ala Uncertain significance Single submitter
- ELP3 p.Val90Leu Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- ELP3 p.Ala46Gly Uncertain significance Single submitter
- ELP3 p.Ala78Val Uncertain significance Single submitter
- ELP3 p.Arg399Gln Uncertain significance Single submitter
- ELP3 p.Arg462Cys Uncertain significance Single submitter
- ELP3 p.Asn307Lys Uncertain significance Single submitter
- ELP3 p.Asp443Gly Uncertain significance Single submitter
- ELP3 p.Asp488Glu Uncertain significance Single submitter
- ELP3 p.Cys94Ser Uncertain significance Single submitter
- ELP3 p.Gln67Arg Uncertain significance Single submitter
- ELP3 p.Glu347Ala Uncertain significance Single submitter
- ELP3 p.Gly395Arg Uncertain significance Single submitter
- ELP3 p.Gly50Ser Uncertain significance Single submitter
- ELP3 p.Leu317Phe Uncertain significance Single submitter
- ELP3 p.Leu355Val Uncertain significance Single submitter
- ELP3 p.Lys532Arg Uncertain significance Single submitter
- ELP3 p.Met285Val Uncertain significance Single submitter
- ELP3 p.Phe461Ser Uncertain significance Single submitter
- ELP3 p.Pro308Ser Uncertain significance Single submitter
- ELP3 p.Pro540Leu Uncertain significance Single submitter
- ELP3 p.Pro74Leu Uncertain significance Single submitter
- ELP3 p.Ser103Asn Uncertain significance Single submitter
- ELP3 p.Tyr202Cys Uncertain significance Single submitter
- ELP3 p.Val169Leu Uncertain significance Single submitter
- ELP3 p.Val374Ile Uncertain significance Single submitter
- ELP3 p.Val41Met Uncertain significance Single submitter
All ELP3 variants
Likely benign 1
- p.Val110= Single submitter
Uncertain significance 59
- p.Ala46Gly Single submitter ⚠
- p.Ala47Thr Single submitter ⚠
- p.Ala78Val Single submitter ⚠
- p.Arg136Ser Single submitter ⚠
- p.Arg230Gln Single submitter ⚠
- p.Arg2Lys Single submitter ⚠
- p.Arg399Gln Single submitter ⚠
- p.Arg416Gln Single submitter ⚠
- p.Arg424Ser Single submitter ⚠
- p.Arg462Cys Single submitter ⚠
- p.Arg462His Single submitter amyotrophic lateral sclerosis ⚠
- p.Asn200Ser Single submitter ⚠
- p.Asn307Lys Single submitter ⚠
- p.Asp117Asn Single submitter ⚠
- p.Asp443Gly Single submitter ⚠
- p.Asp488Glu Single submitter ⚠
- p.Cys227Tyr Single submitter ⚠
- p.Cys94Ser Single submitter ⚠
- p.Gln3Arg Single submitter ⚠
- p.Gln67Arg Single submitter ⚠
- p.Glu347Ala Single submitter ⚠
- p.Glu458Gly Single submitter ⚠
- p.Glu464Lys Single submitter ⚠
- p.Gly172Arg Single submitter ⚠
- p.Gly261Asp Single submitter ⚠
- p.Gly278Ser Single submitter ⚠
- p.Gly377Arg Single submitter ⚠
- p.Gly395Arg Single submitter ⚠
- p.Gly50Ser Single submitter ⚠
- p.Gly516Arg Single submitter ⚠
- p.Ile245Thr Single submitter ⚠
- p.Ile61Thr Single submitter ⚠
- p.Leu317Phe Single submitter ⚠
- p.Leu355Val Single submitter ⚠
- p.Lys532Arg Single submitter ⚠
- p.Lys70Arg Single submitter ⚠
- p.Met285Val Single submitter ⚠
- p.Phe271Leu Single submitter ⚠
- p.Phe461Ser Single submitter ⚠
- p.Pro308Ser Single submitter ⚠
- p.Pro540Leu Single submitter ⚠
- p.Pro74Leu Single submitter ⚠
- p.Ser103Asn Single submitter ⚠
- p.Ser249Asn Single submitter ⚠
- p.Ser522Leu Single submitter ⚠
- p.Thr320Asn Single submitter ⚠
- p.Thr435Ile Single submitter ⚠
- p.Tyr181Phe Single submitter ⚠
- p.Tyr202Cys Single submitter ⚠
- p.Tyr478Ser Single submitter ⚠
- p.Tyr535His Single submitter ⚠
- p.Val165Met Single submitter ⚠
- p.Val169Leu Single submitter ⚠
- p.Val247Ala Single submitter ⚠
- p.Val282Met Single submitter ⚠
- p.Val362Ala Single submitter ⚠
- p.Val374Ile Single submitter ⚠
- p.Val41Met Single submitter ⚠
- p.Val90Leu Single submitter ⚠