ELP4 — 110 ClinVar variants
All ClinVar germline ELP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 4 Conflicting · 8 Benign · 2 Benign/Likely benign · 22 Likely benign · 71 Uncertain significance
Full ELP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 78
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 vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ELP4 p.Leu296Ile
Likely pathogenic
No assertion criteria
Global developmental delay
-
ELP4 p.Tyr91Cys
Likely pathogenic
No assertion criteria
Seizure
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELP4 p.Arg163His Uncertain significance Multiple submitters
- ELP4 p.Arg395His Uncertain significance Multiple submitters
- ELP4 p.Asn244Ser Uncertain significance Multiple submitters
- ELP4 p.Gln165Pro Uncertain significance Multiple submitters
- ELP4 p.Ala197Val Uncertain significance Single submitter
- ELP4 p.Ala21Gly Uncertain significance Single submitter
- ELP4 p.Arg316Pro Uncertain significance Single submitter
- ELP4 p.Arg355Gln Uncertain significance Single submitter
- ELP4 p.Arg395Cys Uncertain significance Single submitter
- ELP4 p.Arg45Gln Uncertain significance Single submitter
- ELP4 p.Cys271Tyr Uncertain significance Single submitter
- ELP4 p.Glu196Lys Uncertain significance Single submitter
- ELP4 p.Gly173Arg Uncertain significance Single submitter
- ELP4 p.Gly181Asp Uncertain significance Single submitter
- ELP4 p.Gly181Ser Uncertain significance Single submitter
- ELP4 p.Gly256Arg Uncertain significance Single submitter
- ELP4 p.Gly275Ser Uncertain significance Single submitter
- ELP4 p.Gly346Arg Uncertain significance Single submitter
- ELP4 p.Gly76Arg Uncertain significance Single submitter
- ELP4 p.His111Tyr Uncertain significance Single submitter
- ELP4 p.His279Leu Uncertain significance Single submitter
- ELP4 p.Leu253Ser Uncertain significance Single submitter
- ELP4 p.Leu281Pro Uncertain significance Single submitter
- ELP4 p.Leu408Arg Uncertain significance Single submitter
- ELP4 p.Lys208Thr Uncertain significance Single submitter
- ELP4 p.Lys214Thr Uncertain significance Single submitter
- ELP4 p.Lys226Glu Uncertain significance Single submitter
- ELP4 p.Met170Thr Uncertain significance Single submitter
- ELP4 p.Pro130Ser Uncertain significance Single submitter
- ELP4 p.Pro44Thr Uncertain significance Single submitter
- ELP4 p.Ser22Arg Uncertain significance Single submitter
- ELP4 p.Ser321Pro Uncertain significance Single submitter
- ELP4 p.Thr221Asn Uncertain significance Single submitter
- ELP4 p.Thr319Ala Uncertain significance Single submitter
- ELP4 p.Thr82Arg Uncertain significance Single submitter
- ELP4 p.Trp265Cys Uncertain significance Single submitter
- ELP4 p.Tyr183Cys Uncertain significance Single submitter
- ELP4 p.Val146Leu Uncertain significance Single submitter
-
ELP4 p.Val215Ile
Uncertain significance
Single submitter
ELP4-related disorder
- ELP4 p.Val366Ile Uncertain significance Single submitter
- ELP4 p.Val47Ala Uncertain significance Single submitter
-
ELP4 p.Arg179Ile
Uncertain significance
No assertion criteria
ELP4-related disorder
Predictors split 32
The independent predictors disagree with each other — read with care.
- ELP4 p.Arg31Ser Uncertain significance Multiple submitters
- ELP4 p.Leu113Ser Benign Multiple submitters
- ELP4 p.Lys283Thr Uncertain significance Multiple submitters
- ELP4 p.Pro191Gln Benign/Likely benign Multiple submitters
- ELP4 p.Ala69Val Uncertain significance Single submitter
- ELP4 p.Arg289Cys Uncertain significance Single submitter
- ELP4 p.Arg31Met Uncertain significance Single submitter
- ELP4 p.Arg351Trp Conflicting Single submitter
- ELP4 p.Asp121Gly Uncertain significance Single submitter
- ELP4 p.Asp241Glu Uncertain significance Single submitter
- ELP4 p.Asp268Tyr Uncertain significance Single submitter
- ELP4 p.Asp365Val Uncertain significance Single submitter
- ELP4 p.Asp423Tyr Uncertain significance Single submitter
- ELP4 p.Gly110Ala Uncertain significance Single submitter
- ELP4 p.Gly242Glu Uncertain significance Single submitter
- ELP4 p.Gly33Cys Uncertain significance Single submitter
- ELP4 p.Gly43Cys Uncertain significance Single submitter
- ELP4 p.Gly59Ala Uncertain significance Single submitter
- ELP4 p.Ile255Val Uncertain significance Single submitter
- ELP4 p.Ile300Leu Benign Single submitter
- ELP4 p.Ile301Val Uncertain significance Single submitter
- ELP4 p.Leu253Phe Conflicting Single submitter
- ELP4 p.Leu347Phe Uncertain significance Single submitter
- ELP4 p.Ser210Pro Uncertain significance Single submitter
- ELP4 p.Ser22Asn Likely benign Single submitter
- ELP4 p.Ser28Gly Uncertain significance Single submitter
- ELP4 p.Ser295Cys Uncertain significance Single submitter
- ELP4 p.Ser333Thr Uncertain significance Single submitter
- ELP4 p.Thr302Ala Uncertain significance Single submitter
- ELP4 p.Thr337Ala Uncertain significance Single submitter
- ELP4 p.Thr6Ile Uncertain significance Single submitter
- ELP4 p.Val366Phe Uncertain significance Single submitter
All ELP4 variants
Pathogenic 1
- c.1143+14176C>A No assertion criteria aniridia 1
Likely pathogenic 2
- p.Leu296Ile No assertion criteria Global developmental delay ⚠
- p.Tyr91Cys No assertion criteria Seizure ⚠
Conflicting classifications of pathogenicity 4
- p.Arg351Trp Single submitter ⚠
- p.Leu253Phe Single submitter ⚠
- p.Lys406Arg Single submitter ⚠
- p.Met414Thr Single submitter ⚠
Benign 8
- c.927+4C>A Multiple submitters aniridia 2
- p.Ala416= Multiple submitters
- p.Arg407Leu Multiple submitters
- p.Leu113Ser Multiple submitters ⚠
- c.223+12G>A Single submitter
- c.927+17A>G Single submitter
- p.Gly202= Single submitter
- p.Ile300Leu Single submitter ⚠
Benign/Likely benign 2
- p.Pro191Gln Multiple submitters ⚠
- p.Ser394Thr Multiple submitters
Likely benign 22
- p.Asp267= Multiple submitters
- c.1144-19903_1144-19902del Single submitter autism spectrum disorder
- c.1144-19957_1144-19956del Single submitter
- c.927+19T>C Single submitter
- c.927+5G>T Single submitter
- p.Ala11Thr Single submitter
- p.Ala21= Single submitter
- p.Ala405Thr Single submitter
- p.Ala5= Single submitter
- p.Asn109Ser Single submitter
- p.Cys270= Single submitter
- p.Gly276Ser Single submitter
- p.Ile313Val Single submitter
- p.Leu292= Single submitter
- p.Lys226= Single submitter
- p.Ser176= Single submitter
- p.Ser22Asn Single submitter ⚠
- p.Thr294= Single submitter
- p.Thr319= Single submitter
- p.Val80Ile Single submitter
- p.Ala79= No assertion criteria ELP4-related disorder
- p.Ser55= No assertion criteria ELP4-related disorder
Uncertain significance 71
- p.Arg163His Multiple submitters ⚠
- p.Arg31Ser Multiple submitters ⚠
- p.Arg395His Multiple submitters ⚠
- p.Asn244Ser Multiple submitters ⚠
- p.Gln165Pro Multiple submitters ⚠
- p.Lys283Thr Multiple submitters ⚠
- p.Ala197Val Single submitter ⚠
- p.Ala21Gly Single submitter ⚠
- p.Ala69Val Single submitter ⚠
- p.Arg289Cys Single submitter ⚠
- p.Arg316Pro Single submitter ⚠
- p.Arg31Met Single submitter ⚠
- p.Arg355Gln Single submitter ⚠
- p.Arg395Cys Single submitter ⚠
- p.Arg45Gln Single submitter ⚠
- p.Asp121Gly Single submitter ⚠
- p.Asp241Glu Single submitter ⚠
- p.Asp268Tyr Single submitter ⚠
- p.Asp365Val Single submitter ⚠
- p.Asp423Tyr Single submitter ⚠
- p.Cys271Tyr Single submitter ⚠
- p.Glu196Lys Single submitter ⚠
- p.Gly110Ala Single submitter ⚠
- p.Gly173Arg Single submitter ⚠
- p.Gly181Asp Single submitter ⚠
- p.Gly181Ser Single submitter ⚠
- p.Gly242Glu Single submitter ⚠
- p.Gly256Arg Single submitter ⚠
- p.Gly275Ser Single submitter ⚠
- p.Gly33Cys Single submitter ⚠
- p.Gly346Arg Single submitter ⚠
- p.Gly43Cys Single submitter ⚠
- p.Gly59Ala Single submitter ⚠
- p.Gly76Arg Single submitter ⚠
- p.His111Tyr Single submitter ⚠
- p.His279Leu Single submitter ⚠
- p.Ile255Val Single submitter ⚠
- p.Ile301Val Single submitter ⚠
- p.Leu253Ser Single submitter ⚠
- p.Leu281Pro Single submitter ⚠
- p.Leu347Phe Single submitter ⚠
- p.Leu408Arg Single submitter ⚠
- p.Lys208Thr Single submitter ⚠
- p.Lys214Thr Single submitter ⚠
- p.Lys226Glu Single submitter ⚠
- p.Met170Thr Single submitter ⚠
- p.Pro130Ser Single submitter ⚠
- p.Pro44Thr Single submitter ⚠
- p.Ser210Pro Single submitter ⚠
- p.Ser22Arg Single submitter ⚠
- p.Ser28Gly Single submitter ⚠
- p.Ser295Cys Single submitter ⚠
- p.Ser321Pro Single submitter ⚠
- p.Ser333Thr Single submitter ⚠
- p.Thr221Asn Single submitter ⚠
- p.Thr302Ala Single submitter ⚠
- p.Thr319Ala Single submitter ⚠
- p.Thr337Ala Single submitter ⚠
- p.Thr392= Single submitter ELP4-related disorder
- p.Thr6Ile Single submitter ⚠
- p.Thr82Arg Single submitter ⚠
- p.Trp265Cys Single submitter ⚠
- p.Tyr183Cys Single submitter ⚠
- p.Tyr341Ter Single submitter aniridia 2
- p.Val146Leu Single submitter ⚠
- p.Val215Ile Single submitter ELP4-related disorder ⚠
- p.Val366Ile Single submitter ⚠
- p.Val366Phe Single submitter ⚠
- p.Val47Ala Single submitter ⚠
- p.Arg179Ile No assertion criteria ELP4-related disorder ⚠
- p.Gln249fs No assertion criteria ELP4-related disorder