EML4 — 164 ClinVar variants

All ClinVar germline EML4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 142 flagged for review →

4 Benign · 10 Likely benign · 150 Uncertain significance

Full EML4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 142

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 122

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 20

The independent predictors disagree with each other — read with care.

All EML4 variants

Benign 4

p.Lys283Glu Multiple submitters
p.Ser242= Multiple submitters
c.2155-4C>G Single submitter
c.641+10G>A Single submitter

Likely benign 10

p.Glu941Gln Single submitter
p.Ile685Val Single submitter
p.Lys214= Single submitter
p.Pro905Ser Single submitter
p.Ser196Leu Single submitter
p.Ser740= Single submitter
p.Ser821= Single submitter
p.Val886Ile Single submitter
p.Ala403Thr No assertion criteria EML4-related disorder
p.Ser18Phe No assertion criteria EML4-related disorder

Uncertain significance 150

p.Gly945Cys Multiple submitters ⚠
c.512+1G>A Single submitter
p.Ala143Val Single submitter ⚠
p.Ala15Thr Single submitter ⚠
p.Ala463Val Single submitter ⚠
p.Ala639Thr Single submitter
p.Ala691Gly Single submitter
p.Ala823Thr Single submitter ⚠
p.Ala884Thr Single submitter ⚠
p.Arg158Lys Single submitter ⚠
p.Arg192Cys Single submitter ⚠
p.Arg192His Single submitter ⚠
p.Arg23Leu Single submitter ⚠
p.Arg268Gln Single submitter ⚠
p.Arg303Gln Single submitter ⚠
p.Arg337Met Single submitter ⚠
p.Arg614Ser Single submitter ⚠
p.Arg716Ser Single submitter ⚠
p.Arg915Lys Single submitter ⚠
p.Asn193Lys Single submitter ⚠
p.Asn221Ser Single submitter ⚠
p.Asn246Lys Single submitter ⚠
p.Asn387Ser Single submitter ⚠
p.Asn441Ser Single submitter ⚠
p.Asn581His Single submitter ⚠
p.Asn581Tyr Single submitter ⚠
p.Asn707Asp Single submitter ⚠
p.Asn800Asp Single submitter ⚠
p.Asn839Ser Single submitter ⚠
p.Asn845Ser Single submitter ⚠
p.Asn85Ser Single submitter ⚠
p.Asn959Lys Single submitter ⚠
p.Asp19His Single submitter
p.Asp243Asn Single submitter ⚠
p.Asp249Val Single submitter ⚠
p.Asp335Val Single submitter ⚠
p.Asp421Gly Single submitter ⚠
p.Asp539Val Single submitter ⚠
p.Asp564Asn Single submitter ⚠
p.Asp582Glu Single submitter ⚠
p.Asp582Val Single submitter ⚠
p.Asp666Val Single submitter ⚠
p.Asp673Glu Single submitter ⚠
p.Asp686Gly Single submitter ⚠
p.Asp791His Single submitter ⚠
p.Asp809Asn Single submitter ⚠
p.Asp878His Single submitter ⚠
p.Asp976Gly Single submitter ⚠
p.Cys311Ser Single submitter ⚠
p.Cys763Ser Single submitter ⚠
p.Cys958Gly Single submitter ⚠
p.Gln137Glu Single submitter ⚠
p.Gln975Arg Single submitter ⚠
p.Glu116Gly Single submitter ⚠
p.Glu127Gly Single submitter ⚠
p.Glu676Ala Single submitter ⚠
p.Glu939Lys Single submitter ⚠
p.Glu960Lys Single submitter ⚠
p.Gly233Ser Single submitter ⚠
p.Gly468Ala Single submitter
p.Gly468Glu Single submitter
p.His133Asn Single submitter ⚠
p.His432Arg Single submitter ⚠
p.His508Arg Single submitter ⚠
p.His814Arg Single submitter ⚠
p.His937Gln Single submitter ⚠
p.Ile172Met Single submitter ⚠
p.Ile219Val Single submitter ⚠
p.Ile227Val Single submitter ⚠
p.Ile236Val Single submitter ⚠
p.Ile288Thr Single submitter ⚠
p.Ile317Met Single submitter ⚠
p.Ile317Val Single submitter ⚠
p.Ile425Val Single submitter ⚠
p.Ile546Thr Single submitter ⚠
p.Ile650Leu Single submitter ⚠
p.Ile724Met Single submitter ⚠
p.Ile736Val Single submitter ⚠
p.Ile745Val Single submitter ⚠
p.Ile78Thr Single submitter ⚠
p.Ile792Asn Single submitter ⚠
p.Leu195Trp Single submitter ⚠
p.Leu204Phe Single submitter ⚠
p.Leu254Met Single submitter ⚠
p.Leu606Trp Single submitter ⚠
p.Leu701Phe Single submitter
p.Leu881Ile Single submitter ⚠
p.Leu906Ser Single submitter ⚠
p.Leu927Val Single submitter ⚠
p.Lys104Thr Single submitter ⚠
p.Lys203Gln Single submitter ⚠
p.Lys260Glu Single submitter ⚠
p.Lys484Ile Single submitter ⚠
p.Lys63Glu Single submitter ⚠
p.Lys734Thr Single submitter ⚠
p.Lys755Arg Single submitter ⚠
p.Lys802Glu Single submitter ⚠
p.Met238Thr Single submitter ⚠
p.Met479Val Single submitter ⚠
p.Pro147Ser Single submitter ⚠
p.Pro255His Single submitter ⚠
p.Pro280Ser Single submitter
p.Pro495Leu Single submitter ⚠
p.Pro72Leu Single submitter ⚠
p.Pro871Ser Single submitter ⚠
p.Pro871Thr Single submitter ⚠
p.Pro898Leu Single submitter ⚠
p.Pro900Leu Single submitter ⚠
p.Pro902Arg Single submitter ⚠
p.Pro920Thr Single submitter ⚠
p.Pro933Ala Single submitter ⚠
p.Ser146Cys Single submitter ⚠
p.Ser146Phe Single submitter ⚠
p.Ser184Cys Single submitter ⚠
p.Ser352Cys Single submitter ⚠
p.Ser511Asn Single submitter ⚠
p.Ser61Thr Single submitter ⚠
p.Ser821Cys Single submitter ⚠
p.Ser858Arg Single submitter ⚠
p.Ser94Thr Single submitter ⚠
p.Ser980Trp Single submitter ⚠
p.Thr115Ala Single submitter ⚠
p.Thr17Ile Single submitter ⚠
p.Thr209Asn Single submitter ⚠
p.Thr252Met Single submitter ⚠
p.Thr252Pro Single submitter ⚠
p.Thr420Ala Single submitter ⚠
p.Thr420Lys Single submitter ⚠
p.Thr570Ile Single submitter ⚠
p.Thr579Ala Single submitter ⚠
p.Thr579Arg Single submitter ⚠
p.Thr592Ile Single submitter ⚠
p.Thr629Ser Single submitter ⚠
p.Thr718Ile Single submitter ⚠
p.Thr852Ala Single submitter ⚠
p.Thr880Ile Single submitter ⚠
p.Thr897Asn Single submitter ⚠
p.Trp536Cys Single submitter ⚠
p.Tyr247Cys Single submitter ⚠
p.Tyr247Phe Single submitter ⚠
p.Tyr277His Single submitter ⚠
p.Tyr711His Single submitter ⚠
p.Val343Ile Single submitter ⚠
p.Val415Ala Single submitter ⚠
p.Val415Met Single submitter ⚠
p.Val558Ile Single submitter ⚠
p.Val692Ala Single submitter ⚠
p.Val692Ile Single submitter ⚠
p.Val779Ile Single submitter ⚠
p.Val876Leu Single submitter ⚠