ELF4 — 92 ClinVar variants
All ClinVar germline ELF4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
6 Pathogenic · 1 Likely pathogenic · 3 Conflicting · 4 Benign · 1 Benign/Likely benign · 16 Likely benign · 61 Uncertain significance
Full ELF4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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 agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELF4 p.Ala128Val Uncertain significance Single submitter
- ELF4 p.Ala409Val Uncertain significance Single submitter
- ELF4 p.Ala416Ser Uncertain significance Single submitter
- ELF4 p.Ala476Val Uncertain significance Single submitter
- ELF4 p.Ala493Thr Uncertain significance Single submitter
- ELF4 p.Arg328Gln Uncertain significance Single submitter
- ELF4 p.Arg329Gln Uncertain significance Single submitter
- ELF4 p.Arg495His Uncertain significance Single submitter
- ELF4 p.Asn133Ser Uncertain significance Single submitter
- ELF4 p.Asn145Ser Uncertain significance Single submitter
- ELF4 p.Asn59Lys Uncertain significance Single submitter
- ELF4 p.Asp124Ala Uncertain significance Single submitter
- ELF4 p.Asp142Asn Uncertain significance Single submitter
- ELF4 p.Gln577Pro Uncertain significance Single submitter
- ELF4 p.Glu372Lys Uncertain significance Single submitter
- ELF4 p.Glu538Lys Uncertain significance Single submitter
-
ELF4 p.Gly206Asp
Uncertain significance
Single submitter
autoinflammatory syndrome, familial, X-linked, Behcet-like 2
-
ELF4 p.Gly237Ala
Uncertain significance
Single submitter
autoinflammatory syndrome, familial, X-linked, Behcet-like 2
-
ELF4 p.Gly237Val
Uncertain significance
Single submitter
autoinflammatory syndrome, familial, X-linked, Behcet-like 2
- ELF4 p.Gly357Ser Uncertain significance Single submitter
- ELF4 p.Gly511Arg Uncertain significance Single submitter
- ELF4 p.His58Gln Uncertain significance Single submitter
- ELF4 p.Ile107Asn Uncertain significance Single submitter
- ELF4 p.Ile525Leu Uncertain significance Single submitter
- ELF4 p.Leu489Ile Uncertain significance Single submitter
- ELF4 p.Lys236Glu Uncertain significance Single submitter
- ELF4 p.Lys343Glu Uncertain significance Single submitter
- ELF4 p.Met550Val Uncertain significance Single submitter
- ELF4 p.Phe647Leu Uncertain significance Single submitter
- ELF4 p.Pro368Thr Uncertain significance Single submitter
- ELF4 p.Pro43Thr Uncertain significance Single submitter
- ELF4 p.Pro509Ser Uncertain significance Single submitter
-
ELF4 p.Pro646Ser
Uncertain significance
Single submitter
autoinflammatory syndrome, familial, X-linked, Behcet-like 2
- ELF4 p.Pro660Ala Uncertain significance Single submitter
- ELF4 p.Ser194Asn Uncertain significance Single submitter
- ELF4 p.Ser201Pro Uncertain significance Single submitter
- ELF4 p.Ser369Leu Uncertain significance Single submitter
- ELF4 p.Ser89Ala Uncertain significance Single submitter
- ELF4 p.Ser89Leu Uncertain significance Single submitter
- ELF4 p.Ser8Thr Uncertain significance Single submitter
- ELF4 p.Thr116Ala Uncertain significance Single submitter
- ELF4 p.Thr330Asn Uncertain significance Single submitter
- ELF4 p.Thr421Arg Uncertain significance Single submitter
- ELF4 p.Thr643Ser Uncertain significance Single submitter
- ELF4 p.Thr653Ile Uncertain significance Single submitter
-
ELF4 p.Val242Met
Uncertain significance
Single submitter
autoinflammatory syndrome, familial, X-linked, Behcet-like 2
- ELF4 p.Val474Leu Uncertain significance Single submitter
-
ELF4 p.Pro499Leu
Uncertain significance
No assertion criteria
ELF4-related disorder
Predictors split 15
The independent predictors disagree with each other — read with care.
- ELF4 p.Ser413Leu Uncertain significance Multiple submitters
- ELF4 p.Arg328Trp Uncertain significance Single submitter
- ELF4 p.Arg495Cys Uncertain significance Single submitter
-
ELF4 p.Asn223Ile
Uncertain significance
Single submitter
autoinflammatory syndrome, familial, X-linked, Behcet-like 2
- ELF4 p.Asp662His Uncertain significance Single submitter
- ELF4 p.Gln548His Uncertain significance Single submitter
- ELF4 p.Glu118Lys Uncertain significance Single submitter
- ELF4 p.Gly65Arg Likely benign Single submitter
- ELF4 p.Ser514Cys Uncertain significance Single submitter
- ELF4 p.Ser545Phe Uncertain significance Single submitter
- ELF4 p.Thr503Met Uncertain significance Single submitter
- ELF4 p.Thr552Met Uncertain significance Single submitter
- ELF4 p.Thr70Met Uncertain significance Single submitter
- ELF4 p.Val408Met Likely benign Single submitter
- ELF4 p.Val411Met Likely benign Single submitter
All ELF4 variants
Pathogenic 6
- p.Arg234Ter Single submitter
- p.Arg329Ter Single submitter
- p.Lys173_Ser174insTer Single submitter
- p.Ala339fs No assertion criteria autoinflammatory syndrome, familial, X-linked, Behcet-like 2
- p.Trp231Arg No assertion criteria autoinflammatory syndrome, familial, X-linked, Behcet-like 2
- p.Trp251Ser No assertion criteria autoinflammatory syndrome, familial, X-linked, Behcet-like 2
Likely pathogenic 1
- p.Arg185Ter Single submitter
Conflicting classifications of pathogenicity 3
- p.Arg604His Single submitter ⚠
- p.Pro555Ser Single submitter ⚠
- p.Thr187Asn Single submitter ⚠
Benign 4
- p.Arg604Cys Multiple submitters
- p.Ser369= Multiple submitters
- p.Thr503= Multiple submitters
- p.Leu381= Single submitter
Benign/Likely benign 1
- p.Ala147Val Multiple submitters
Likely benign 16
- c.340+18T>C Single submitter
- c.341-15T>C Single submitter
- c.532+7G>C Single submitter
- c.809+18G>A Single submitter
- c.810-4C>G Single submitter
- p.Ala95= Single submitter
- p.Ala95Thr Single submitter
- p.Asn17= Single submitter
- p.Asp304= Single submitter
- p.Gly65Arg Single submitter ⚠
- p.Ser415_Ala416insGlySer Single submitter
- p.Val382Ile Single submitter
- p.Val408Met Single submitter ⚠
- p.Val411Met Single submitter ⚠
- p.Val547= Single submitter
- p.Gly539= No assertion criteria ELF4-related disorder
Uncertain significance 61
- p.Ser413Leu Multiple submitters ⚠
- p.Ala128Val Single submitter ⚠
- p.Ala409Val Single submitter ⚠
- p.Ala416Ser Single submitter ⚠
- p.Ala476Val Single submitter ⚠
- p.Ala493Thr Single submitter ⚠
- p.Arg328Gln Single submitter ⚠
- p.Arg328Trp Single submitter ⚠
- p.Arg329Gln Single submitter ⚠
- p.Arg495Cys Single submitter ⚠
- p.Arg495His Single submitter ⚠
- p.Asn133Ser Single submitter ⚠
- p.Asn145Ser Single submitter ⚠
- p.Asn223Ile Single submitter autoinflammatory syndrome, familial, X-linked, Behcet-like 2 ⚠
- p.Asn59Lys Single submitter ⚠
- p.Asp124Ala Single submitter ⚠
- p.Asp142Asn Single submitter ⚠
- p.Asp662His Single submitter ⚠
- p.Gln548His Single submitter ⚠
- p.Gln577Pro Single submitter ⚠
- p.Glu118Lys Single submitter ⚠
- p.Glu372Lys Single submitter ⚠
- p.Glu538Lys Single submitter ⚠
- p.Glu628Ter Single submitter
- p.Gly206Asp Single submitter autoinflammatory syndrome, familial, X-linked, Behcet-like 2 ⚠
- p.Gly237Ala Single submitter autoinflammatory syndrome, familial, X-linked, Behcet-like 2 ⚠
- p.Gly237Val Single submitter autoinflammatory syndrome, familial, X-linked, Behcet-like 2 ⚠
- p.Gly357Ser Single submitter ⚠
- p.Gly511Arg Single submitter ⚠
- p.His58Gln Single submitter ⚠
- p.Ile107Asn Single submitter ⚠
- p.Ile525Leu Single submitter ⚠
- p.Leu489Ile Single submitter ⚠
- p.Lys236Glu Single submitter ⚠
- p.Lys343Glu Single submitter ⚠
- p.Met550Val Single submitter ⚠
- p.Phe647Leu Single submitter ⚠
- p.Pro368Thr Single submitter ⚠
- p.Pro43Thr Single submitter ⚠
- p.Pro509Ser Single submitter ⚠
- p.Pro646Ser Single submitter autoinflammatory syndrome, familial, X-linked, Behcet-like 2 ⚠
- p.Pro660Ala Single submitter ⚠
- p.Ser194Asn Single submitter ⚠
- p.Ser201Pro Single submitter ⚠
- p.Ser369Leu Single submitter ⚠
- p.Ser514Cys Single submitter ⚠
- p.Ser545Phe Single submitter ⚠
- p.Ser89Ala Single submitter ⚠
- p.Ser89Leu Single submitter ⚠
- p.Ser8Thr Single submitter ⚠
- p.Thr116Ala Single submitter ⚠
- p.Thr330Asn Single submitter ⚠
- p.Thr421Arg Single submitter ⚠
- p.Thr503Met Single submitter ⚠
- p.Thr552Met Single submitter ⚠
- p.Thr643Ser Single submitter ⚠
- p.Thr653Ile Single submitter ⚠
- p.Thr70Met Single submitter ⚠
- p.Val242Met Single submitter autoinflammatory syndrome, familial, X-linked, Behcet-like 2 ⚠
- p.Val474Leu Single submitter ⚠
- p.Pro499Leu No assertion criteria ELF4-related disorder ⚠