ELFN2 — 125 ClinVar variants
All ClinVar germline ELFN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 121 flagged for review →
2 Benign · 3 Likely benign · 120 Uncertain significance
Full ELFN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 121
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 69
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELFN2 p.Ala198Val Uncertain significance Single submitter
- ELFN2 p.Ala243Gly Uncertain significance Single submitter
- ELFN2 p.Ala265Thr Uncertain significance Single submitter
- ELFN2 p.Ala455Thr Uncertain significance Single submitter
- ELFN2 p.Ala484Thr Uncertain significance Single submitter
- ELFN2 p.Ala640Thr Uncertain significance Single submitter
- ELFN2 p.Arg165His Uncertain significance Single submitter
- ELFN2 p.Arg16Trp Uncertain significance Single submitter
- ELFN2 p.Arg212Cys Uncertain significance Single submitter
- ELFN2 p.Arg219Gln Uncertain significance Single submitter
- ELFN2 p.Arg246Gln Uncertain significance Single submitter
- ELFN2 p.Arg3Leu Uncertain significance Single submitter
- ELFN2 p.Arg469His Uncertain significance Single submitter
- ELFN2 p.Arg516Pro Uncertain significance Single submitter
- ELFN2 p.Arg676Gln Uncertain significance Single submitter
- ELFN2 p.Arg727His Uncertain significance Single submitter
- ELFN2 p.Arg781Gln Uncertain significance Single submitter
- ELFN2 p.Asn433Asp Uncertain significance Single submitter
- ELFN2 p.Asp292Glu Uncertain significance Single submitter
- ELFN2 p.Asp446Glu Uncertain significance Single submitter
- ELFN2 p.Asp523Gly Uncertain significance Single submitter
- ELFN2 p.Asp660Asn Uncertain significance Single submitter
- ELFN2 p.Asp740Asn Uncertain significance Single submitter
- ELFN2 p.Gln130His Uncertain significance Single submitter
- ELFN2 p.Glu149Gly Uncertain significance Single submitter
- ELFN2 p.Glu427Gln Uncertain significance Single submitter
- ELFN2 p.Glu597Gln Uncertain significance Single submitter
- ELFN2 p.Glu764Gln Uncertain significance Single submitter
- ELFN2 p.Gly450Asp Uncertain significance Single submitter
- ELFN2 p.Gly510Ser Uncertain significance Single submitter
- ELFN2 p.Gly513Ser Uncertain significance Single submitter
- ELFN2 p.Gly527Ser Uncertain significance Single submitter
- ELFN2 p.Gly594Arg Uncertain significance Single submitter
- ELFN2 p.Gly635Ser Uncertain significance Single submitter
- ELFN2 p.Gly691Ser Uncertain significance Single submitter
- ELFN2 p.Ile345Met Uncertain significance Single submitter
- ELFN2 p.Leu281Arg Uncertain significance Single submitter
- ELFN2 p.Leu439Pro Uncertain significance Single submitter
- ELFN2 p.Leu602Val Uncertain significance Single submitter
- ELFN2 p.Leu670Val Uncertain significance Single submitter
- ELFN2 p.Leu679Pro Uncertain significance Single submitter
- ELFN2 p.Leu731His Uncertain significance Single submitter
- ELFN2 p.Lys543Arg Uncertain significance Single submitter
- ELFN2 p.Lys638Arg Uncertain significance Single submitter
- ELFN2 p.Phe359Tyr Uncertain significance Single submitter
- ELFN2 p.Phe406Val Uncertain significance Single submitter
- ELFN2 p.Pro17Leu Uncertain significance Single submitter
- ELFN2 p.Pro260Ser Uncertain significance Single submitter
- ELFN2 p.Pro466Ser Uncertain significance Single submitter
- ELFN2 p.Pro474Ser Uncertain significance Single submitter
- ELFN2 p.Pro522Leu Uncertain significance Single submitter
- ELFN2 p.Pro613Ser Uncertain significance Single submitter
- ELFN2 p.Pro613Thr Uncertain significance Single submitter
- ELFN2 p.Pro651Leu Uncertain significance Single submitter
- ELFN2 p.Pro669Ala Uncertain significance Single submitter
- ELFN2 p.Pro678Ser Uncertain significance Single submitter
- ELFN2 p.Pro681Arg Uncertain significance Single submitter
- ELFN2 p.Ser262Pro Uncertain significance Single submitter
- ELFN2 p.Ser282Leu Uncertain significance Single submitter
- ELFN2 p.Ser294Leu Uncertain significance Single submitter
- ELFN2 p.Ser559Leu Uncertain significance Single submitter
- ELFN2 p.Ser603Leu Uncertain significance Single submitter
- ELFN2 p.Thr263Pro Uncertain significance Single submitter
- ELFN2 p.Thr766Met Uncertain significance Single submitter
- ELFN2 p.Val467Ala Uncertain significance Single submitter
- ELFN2 p.Val467Ile Uncertain significance Single submitter
- ELFN2 p.Val496Ile Uncertain significance Single submitter
- ELFN2 p.Val624Met Uncertain significance Single submitter
- ELFN2 p.Val728Met Uncertain significance Single submitter
Predictors split 52
The independent predictors disagree with each other — read with care.
- ELFN2 p.Ala183Thr Uncertain significance Single submitter
- ELFN2 p.Ala560Val Uncertain significance Single submitter
- ELFN2 p.Ala583Thr Uncertain significance Single submitter
- ELFN2 p.Ala714Thr Uncertain significance Single submitter
- ELFN2 p.Ala98Ser Uncertain significance Single submitter
- ELFN2 p.Arg21His Uncertain significance Single submitter
- ELFN2 p.Arg230Trp Uncertain significance Single submitter
- ELFN2 p.Arg369His Uncertain significance Single submitter
- ELFN2 p.Arg506Cys Uncertain significance Single submitter
- ELFN2 p.Arg616His Uncertain significance Single submitter
- ELFN2 p.Arg626Cys Likely benign Single submitter
- ELFN2 p.Arg676Trp Uncertain significance Single submitter
- ELFN2 p.Arg736Cys Uncertain significance Single submitter
- ELFN2 p.Asn117Tyr Uncertain significance Single submitter
- ELFN2 p.Asp649His Uncertain significance Single submitter
- ELFN2 p.Gln745Arg Uncertain significance Single submitter
- ELFN2 p.Gln745Lys Uncertain significance Single submitter
- ELFN2 p.Gly121Ser Uncertain significance Single submitter
- ELFN2 p.Gly195Arg Uncertain significance Single submitter
- ELFN2 p.Gly223Ser Uncertain significance Single submitter
- ELFN2 p.Gly407Ser Uncertain significance Single submitter
- ELFN2 p.Gly444Arg Uncertain significance Single submitter
- ELFN2 p.Gly490Arg Uncertain significance Single submitter
- ELFN2 p.Gly511Arg Uncertain significance Single submitter
- ELFN2 p.Gly527Cys Uncertain significance Single submitter
- ELFN2 p.Gly689Ser Uncertain significance Single submitter
- ELFN2 p.Gly692Arg Uncertain significance Single submitter
- ELFN2 p.Gly813Glu Uncertain significance Single submitter
- ELFN2 p.His708Arg Uncertain significance Single submitter
- ELFN2 p.Ile156Leu Uncertain significance Single submitter
- ELFN2 p.Ile299Val Uncertain significance Single submitter
- ELFN2 p.Leu110Val Uncertain significance Single submitter
- ELFN2 p.Phe306Leu Uncertain significance Single submitter
- ELFN2 p.Pro474His Uncertain significance Single submitter
- ELFN2 p.Pro604Leu Uncertain significance Single submitter
- ELFN2 p.Ser103Leu Uncertain significance Single submitter
- ELFN2 p.Ser249Leu Uncertain significance Single submitter
- ELFN2 p.Ser282Trp Uncertain significance Single submitter
- ELFN2 p.Ser308Leu Uncertain significance Single submitter
- ELFN2 p.Ser390Asn Uncertain significance Single submitter
- ELFN2 p.Ser634Arg Uncertain significance Single submitter
- ELFN2 p.Ser744Leu Uncertain significance Single submitter
- ELFN2 p.Thr291Met Uncertain significance Single submitter
- ELFN2 p.Thr305Met Uncertain significance Single submitter
- ELFN2 p.Thr347Met Uncertain significance Single submitter
- ELFN2 p.Thr358Ile Uncertain significance Single submitter
- ELFN2 p.Val14Met Uncertain significance Single submitter
- ELFN2 p.Val304Ile Uncertain significance Single submitter
- ELFN2 p.Val326Met Uncertain significance Single submitter
- ELFN2 p.Val346Met Uncertain significance Single submitter
- ELFN2 p.Val361Leu Uncertain significance Single submitter
- ELFN2 p.Val647Met Uncertain significance Single submitter
All ELFN2 variants
Benign 2
- p.Asn76Ser Multiple submitters
- p.Ser262Tyr Multiple submitters
Likely benign 3
- p.Arg626Cys Single submitter ⚠
- p.Asn236= Single submitter
- p.Gly685Ser Single submitter
Uncertain significance 120
- p.Ala183Thr Single submitter ⚠
- p.Ala198Val Single submitter ⚠
- p.Ala243Gly Single submitter ⚠
- p.Ala265Thr Single submitter ⚠
- p.Ala455Thr Single submitter ⚠
- p.Ala484Thr Single submitter ⚠
- p.Ala560Val Single submitter ⚠
- p.Ala583Thr Single submitter ⚠
- p.Ala640Thr Single submitter ⚠
- p.Ala714Thr Single submitter ⚠
- p.Ala98Ser Single submitter ⚠
- p.Arg165His Single submitter ⚠
- p.Arg16Trp Single submitter ⚠
- p.Arg212Cys Single submitter ⚠
- p.Arg219Gln Single submitter ⚠
- p.Arg21His Single submitter ⚠
- p.Arg230Trp Single submitter ⚠
- p.Arg246Gln Single submitter ⚠
- p.Arg369His Single submitter ⚠
- p.Arg3Leu Single submitter ⚠
- p.Arg469His Single submitter ⚠
- p.Arg506Cys Single submitter ⚠
- p.Arg516Pro Single submitter ⚠
- p.Arg616His Single submitter ⚠
- p.Arg676Gln Single submitter ⚠
- p.Arg676Trp Single submitter ⚠
- p.Arg727His Single submitter ⚠
- p.Arg736Cys Single submitter ⚠
- p.Arg781Gln Single submitter ⚠
- p.Asn117Tyr Single submitter ⚠
- p.Asn433Asp Single submitter ⚠
- p.Asp292Glu Single submitter ⚠
- p.Asp446Glu Single submitter ⚠
- p.Asp523Gly Single submitter ⚠
- p.Asp649His Single submitter ⚠
- p.Asp660Asn Single submitter ⚠
- p.Asp740Asn Single submitter ⚠
- p.Gln130His Single submitter ⚠
- p.Gln745Arg Single submitter ⚠
- p.Gln745Lys Single submitter ⚠
- p.Glu149Gly Single submitter ⚠
- p.Glu427Gln Single submitter ⚠
- p.Glu597Gln Single submitter ⚠
- p.Glu764Gln Single submitter ⚠
- p.Gly121Ser Single submitter ⚠
- p.Gly195Arg Single submitter ⚠
- p.Gly223Ser Single submitter ⚠
- p.Gly407Ser Single submitter ⚠
- p.Gly444Arg Single submitter ⚠
- p.Gly450Asp Single submitter ⚠
- p.Gly490Arg Single submitter ⚠
- p.Gly510Ser Single submitter ⚠
- p.Gly511Arg Single submitter ⚠
- p.Gly513Ser Single submitter ⚠
- p.Gly527Cys Single submitter ⚠
- p.Gly527Ser Single submitter ⚠
- p.Gly594Arg Single submitter ⚠
- p.Gly635Ser Single submitter ⚠
- p.Gly689Ser Single submitter ⚠
- p.Gly691Ser Single submitter ⚠
- p.Gly692Arg Single submitter ⚠
- p.Gly813Glu Single submitter ⚠
- p.His708Arg Single submitter ⚠
- p.Ile156Leu Single submitter ⚠
- p.Ile299Val Single submitter ⚠
- p.Ile345Met Single submitter ⚠
- p.Leu110Val Single submitter ⚠
- p.Leu281Arg Single submitter ⚠
- p.Leu439Pro Single submitter ⚠
- p.Leu602Val Single submitter ⚠
- p.Leu670Val Single submitter ⚠
- p.Leu679Pro Single submitter ⚠
- p.Leu731His Single submitter ⚠
- p.Lys543Arg Single submitter ⚠
- p.Lys638Arg Single submitter ⚠
- p.Phe306Leu Single submitter ⚠
- p.Phe359Tyr Single submitter ⚠
- p.Phe406Val Single submitter ⚠
- p.Pro17Leu Single submitter ⚠
- p.Pro260Ser Single submitter ⚠
- p.Pro466Ser Single submitter ⚠
- p.Pro474His Single submitter ⚠
- p.Pro474Ser Single submitter ⚠
- p.Pro522Leu Single submitter ⚠
- p.Pro604Leu Single submitter ⚠
- p.Pro613Ser Single submitter ⚠
- p.Pro613Thr Single submitter ⚠
- p.Pro651Leu Single submitter ⚠
- p.Pro669Ala Single submitter ⚠
- p.Pro678Ser Single submitter ⚠
- p.Pro681Arg Single submitter ⚠
- p.Ser103Leu Single submitter ⚠
- p.Ser249Leu Single submitter ⚠
- p.Ser262Pro Single submitter ⚠
- p.Ser282Leu Single submitter ⚠
- p.Ser282Trp Single submitter ⚠
- p.Ser294Leu Single submitter ⚠
- p.Ser308Leu Single submitter ⚠
- p.Ser390Asn Single submitter ⚠
- p.Ser559Leu Single submitter ⚠
- p.Ser603Leu Single submitter ⚠
- p.Ser634Arg Single submitter ⚠
- p.Ser744Leu Single submitter ⚠
- p.Thr263Pro Single submitter ⚠
- p.Thr291Met Single submitter ⚠
- p.Thr305Met Single submitter ⚠
- p.Thr347Met Single submitter ⚠
- p.Thr358Ile Single submitter ⚠
- p.Thr766Met Single submitter ⚠
- p.Val14Met Single submitter ⚠
- p.Val304Ile Single submitter ⚠
- p.Val326Met Single submitter ⚠
- p.Val346Met Single submitter ⚠
- p.Val361Leu Single submitter ⚠
- p.Val467Ala Single submitter ⚠
- p.Val467Ile Single submitter ⚠
- p.Val496Ile Single submitter ⚠
- p.Val624Met Single submitter ⚠
- p.Val647Met Single submitter ⚠
- p.Val728Met Single submitter ⚠