List of variants in gene EIF2AK4 reported as likely pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001013703.4(EIF2AK4):c.257+4A>C	rs371276330	0.00004
NM_001013703.4(EIF2AK4):c.3325G>A (p.Gly1109Arg)	rs771359303	0.00001
NM_001013703.4(EIF2AK4):c.1159_1160del (p.Leu387fs)	rs1595552181
NM_001013703.4(EIF2AK4):c.1392del (p.Arg465fs)	rs587777102
NM_001013703.4(EIF2AK4):c.1739dup (p.Arg581fs)	rs1595402535
NM_001013703.4(EIF2AK4):c.1795G>C (p.Gly599Arg)	rs1291600097
NM_001013703.4(EIF2AK4):c.1820T>G (p.Val607Gly)	rs1595403854
NM_001013703.4(EIF2AK4):c.2727C>G (p.Ser909Arg)	rs1595414835
NM_001013703.4(EIF2AK4):c.2841del (p.Ile948fs)	rs1595418005
NM_001013703.4(EIF2AK4):c.3055_3064del (p.Leu1019fs)	rs767131900
NM_001013703.4(EIF2AK4):c.3605A>T (p.His1202Leu)	rs1159906680
NM_001013703.4(EIF2AK4):c.3884T>G (p.Leu1295Arg)	rs1595431276
NM_001013703.4(EIF2AK4):c.4392dup (p.Lys1465Ter)	rs1181863323
NM_001013703.4(EIF2AK4):c.4400dup (p.Glu1468fs)	rs1595437286
NM_001013703.4(EIF2AK4):c.4769del (p.Ser1589_Leu1590insTer)	rs756315327

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.