### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EIF2B5) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "EIF2B5" "eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa" "3" "q27.3" "unknown" "NG_015826.1" "UD_132118814540" "" "https://www.LOVD.nl/EIF2B5" "" "1" "3261" "8893" "603945" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/EIF2B5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2019-02-17 17:33:48" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00006972" "EIF2B5" "eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa" "001" "NM_003907.2" "" "NP_003898.2" "" "" "" "-364" "2534" "2166" "183852810" "183863099" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02470" "VWM" "leukoencephalopathy with vanishing white matter (VWM)" "AR" "603896" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "EIF2B5" "02470" ## Individuals ## Do not remove or alter this header ## ## Count = 38 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00225554" "" "" "" "1" "" "00233" "{PMID:19158808 abstract:19158808}" "" "" "" "" "" "0" "" "" "" "" "00225555" "" "" "" "1" "" "00233" "{PMID:19158808 abstract:19158808}" "" "" "" "" "" "0" "" "" "" "" "00225556" "" "" "" "1" "" "00233" "{PMID:19158808 abstract:19158808}" "" "" "" "" "" "0" "" "" "" "" "00225557" "" "" "" "1" "" "00233" "{PMID:19158808 abstract:19158808}" "" "" "" "" "" "0" "" "" "" "" "00225558" "" "" "" "1" "" "00233" "{PMID:19158808 abstract:19158808}" "" "" "" "" "" "0" "" "" "" "" "00225559" "" "" "" "1" "" "00233" "{PMID:19158808 abstract:19158808}" "" "" "" "" "" "0" "" "" "" "" "00225560" "" "" "" "1" "" "00233" "{PMID:11704758 abstract:11704758}" "" "" "" "" "" "0" "" "" "" "" "00225561" "" "" "" "1" "" "00233" "{PMID:19158808 abstract:19158808}" "" "" "" "" "" "0" "" "" "" "" "00225562" "" "" "" "1" "" "00233" "{PMID:11704758 abstract:11704758}" "" "" "" "" "" "0" "" "" "" "" "00225563" "" "" "" "1" "" "00233" "{PMID:19158808 abstract:19158808}" "" "" "" "" "" "0" "" "" "" "" "00225564" "" "" "" "1" "" "00233" "{PMID:19158808 abstract:19158808}" "" "" "" "" "" "0" "" "" "" "" "00225565" "" "" "" "1" "" "00233" "{PMID:21484434 abstract:21484434}" "" "" "" "" "" "0" "" "" "" "" "00225566" "" "" "" "1" "" "00233" "{PMID:15776425 abstract:15776425}" "" "" "" "" "" "0" "" "" "" "" "00225567" "" "" "" "1" "" "00233" "{PMID:15776425 abstract:15776425}" "" "" "" "" "" "0" "" "" "" "" "00225568" "" "" "" "1" "" "00233" "{PMID:12707859 abstract:12707859}" "" "" "" "" "" "0" "" "" "" "" "00225569" "" "" "" "1" "" "00233" "{PMID:15776425 abstract:15776425}" "" "" "" "" "" "0" "" "" "" "" "00225570" "" "" "" "1" "" "00233" "{PMID:15776425 abstract:15776425}" "" "" "" "" "" "0" "" "" "" "" "00225571" "" "" "" "1" "" "00233" "{PMID:15776425 abstract:15776425}" "" "" "" "" "" "0" "" "" "" "" "00225572" "" "" "" "1" "" "00233" "{PMID:15776425 abstract:15776425}" "" "" "" "" "" "0" "" "" "" "" "00225573" "" "" "" "1" "" "00233" "{PMID:11704758 abstract:11704758}" "" "" "" "" "" "0" "" "" "" "" "00225574" "" "" "" "1" "" "00233" "{PMID:11704758 abstract:11704758}" "" "" "" "" "" "0" "" "" "" "" "00225575" "" "" "" "1" "" "00233" "{PMID:11704758 abstract:11704758}" "" "" "" "" "" "0" "" "" "" "" "00225576" "" "" "" "1" "" "00233" "{PMID:11704758 abstract:11704758}" "" "" "" "" "" "0" "" "" "" "" "00225577" "" "" "" "1" "" "00233" "{PMID:11704758 abstract:11704758}" "" "" "" "" "" "0" "" "" "" "" "00225578" "" "" "" "1" "" "00233" "{PMID:11704758 abstract:11704758}" "" "" "" "" "" "0" "" "" "" "" "00225579" "" "" "" "1" "" "00233" "{PMID:11704758 abstract:11704758}" "" "" "" "" "" "0" "" "" "" "" "00225580" "" "" "" "1" "" "00233" "{PMID:11704758 abstract:11704758}" "" "" "" "" "" "0" "" "" "" "" "00225581" "" "" "" "1" "" "00233" "{PMID:11704758 abstract:11704758}" "" "" "" "" "" "0" "" "" "" "" "00225582" "" "" "" "1" "" "00233" "{PMID:12325082 abstract:12325082}" "" "" "" "" "" "0" "" "" "" "" "00225583" "" "" "" "1" "" "00233" "{PMID:12707859 abstract:12707859}" "" "" "" "" "" "0" "" "" "" "" "00246628" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00293289" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374724" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2613" "00380794" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?" "00453465" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00455779" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat19" "00455808" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat48" "00455828" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat68" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 38 "{{individualid}}" "{{diseaseid}}" "00225554" "02470" "00225555" "02470" "00225556" "02470" "00225557" "02470" "00225558" "02470" "00225559" "02470" "00225560" "02470" "00225561" "02470" "00225562" "02470" "00225563" "02470" "00225564" "02470" "00225565" "02470" "00225566" "02470" "00225567" "02470" "00225568" "02470" "00225569" "02470" "00225570" "02470" "00225571" "02470" "00225572" "02470" "00225573" "02470" "00225574" "02470" "00225575" "02470" "00225576" "02470" "00225577" "02470" "00225578" "02470" "00225579" "02470" "00225580" "02470" "00225581" "02470" "00225582" "02470" "00225583" "02470" "00246628" "00198" "00293289" "00198" "00374724" "00198" "00380794" "02470" "00453465" "02470" "00455779" "00198" "00455808" "00198" "00455828" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02470 ## Count = 37 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000170668" "02470" "00225554" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170669" "02470" "00225555" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170670" "02470" "00225556" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170671" "02470" "00225557" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170672" "02470" "00225558" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170673" "02470" "00225559" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170674" "02470" "00225560" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170675" "02470" "00225561" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170676" "02470" "00225562" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170677" "02470" "00225563" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170678" "02470" "00225564" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170679" "02470" "00225565" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170680" "02470" "00225566" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170681" "02470" "00225567" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170682" "02470" "00225568" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170683" "02470" "00225569" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170684" "02470" "00225570" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170685" "02470" "00225571" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170686" "02470" "00225572" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170687" "02470" "00225573" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170688" "02470" "00225574" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170689" "02470" "00225575" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170690" "02470" "00225576" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170691" "02470" "00225577" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170692" "02470" "00225578" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170693" "02470" "00225579" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170694" "02470" "00225580" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170695" "02470" "00225581" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170696" "02470" "00225582" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170697" "02470" "00225583" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000186484" "00198" "00246628" "01807" "Unknown" "" "HP:0002415 (Leukodystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000269934" "00198" "00374724" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "leukodystrophy" "" "0000274647" "02470" "00380794" "00000" "Familial" "" "Macrocephaly; ataxia; seizures; regression; leukoencephalopathy; cerebral cysts (Neurological)" "" "" "" "" "" "" "" "" "Leukoencephalopathy with vanishing white matter" "" "" "0000342129" "02470" "00453465" "03544" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "VWM" "VWm" "" "0000344312" "00198" "00455779" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "VWM1" "neurogenetic diseases" "" "0000344341" "00198" "00455808" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "VWM1" "neurogenetic diseases" "" "0000344361" "00198" "00455828" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "VWM1" "neurogenetic diseases" "" ## Screenings ## Do not remove or alter this header ## ## Count = 38 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000226633" "00225554" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226634" "00225555" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226635" "00225556" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226636" "00225557" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226637" "00225558" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226638" "00225559" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226639" "00225560" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226640" "00225561" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226641" "00225562" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226642" "00225563" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226643" "00225564" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226644" "00225565" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226645" "00225566" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226646" "00225567" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226647" "00225568" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226648" "00225569" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226649" "00225570" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226650" "00225571" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226651" "00225572" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226652" "00225573" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226653" "00225574" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226654" "00225575" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226655" "00225576" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226656" "00225577" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226657" "00225578" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226658" "00225579" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226659" "00225580" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226660" "00225581" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226661" "00225582" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000226662" "00225583" "1" "00233" "00000" "2012-08-09 15:37:07" "" "" "SEQ" "DNA" "" "" "0000247739" "00246628" "1" "01807" "01807" "2019-07-15 17:43:36" "" "" "SEQ" "DNA" "" "" "0000294457" "00293289" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375918" "00374724" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000382008" "00380794" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing" "0000455079" "00453465" "1" "03544" "03544" "2024-09-04 09:36:09" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000457395" "00455779" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000457424" "00455808" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000457444" "00455828" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{geneid}}" "0000226633" "EIF2B5" "0000226634" "EIF2B5" "0000226635" "EIF2B5" "0000226636" "EIF2B5" "0000226637" "EIF2B5" "0000226638" "EIF2B5" "0000226639" "EIF2B5" "0000226640" "EIF2B5" "0000226641" "EIF2B5" "0000226642" "EIF2B5" "0000226643" "EIF2B5" "0000226644" "EIF2B5" "0000226645" "EIF2B5" "0000226646" "EIF2B5" "0000226647" "EIF2B5" "0000226648" "EIF2B5" "0000226649" "EIF2B5" "0000226650" "EIF2B5" "0000226651" "EIF2B5" "0000226652" "EIF2B5" "0000226653" "EIF2B5" "0000226654" "EIF2B5" "0000226655" "EIF2B5" "0000226656" "EIF2B5" "0000226657" "EIF2B5" "0000226658" "EIF2B5" "0000226659" "EIF2B5" "0000226660" "EIF2B5" "0000226661" "EIF2B5" "0000226662" "EIF2B5" "0000375918" "EIF2B5" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 70 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000248800" "0" "10" "3" "183861243" "183861243" "subst" "0.350754" "02325" "EIF2B5_000036" "g.183861243A>G" "" "" "" "EIF2B5(NM_003907.3):c.1759A>G (p.I587V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.184143455A>G" "" "benign" "" "0000255842" "0" "50" "3" "183853308" "183853308" "subst" "1.00238E-5" "01943" "EIF2B5_000031" "g.183853308A>G" "" "" "" "EIF2B5(NM_003907.3):c.135A>G (p.A45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.184135520A>G" "" "VUS" "" "0000267799" "0" "90" "3" "183858377" "183858377" "subst" "2.84312E-5" "02325" "EIF2B5_000023" "g.183858377C>T" "" "" "" "EIF2B5(NM_003907.3):c.1015C>T (p.(Arg339Trp), p.R339W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.184140589C>T" "" "pathogenic" "" "0000267800" "0" "70" "3" "183859764" "183859764" "subst" "1.62747E-5" "02325" "EIF2B5_000034" "g.183859764C>T" "" "" "" "EIF2B5(NM_003907.2):c.1208C>T (p.(Ala403Val)), EIF2B5(NM_003907.3):c.1208C>T (p.A403V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.184141976C>T" "" "likely pathogenic" "" "0000267801" "0" "50" "3" "183861932" "183861932" "subst" "3.65527E-5" "02325" "EIF2B5_000037" "g.183861932G>A" "" "" "" "EIF2B5(NM_003907.3):c.1915G>A (p.A639T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.184144144G>A" "" "VUS" "" "0000276044" "0" "30" "3" "183858328" "183858328" "subst" "8.52993E-5" "01943" "EIF2B5_000032" "g.183858328C>G" "" "" "" "EIF2B5(NM_003907.3):c.966C>G (p.T322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.184140540C>G" "" "likely benign" "" "0000343105" "0" "50" "3" "183853336" "183853336" "subst" "0" "02327" "EIF2B5_000038" "g.183853336C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.184135548C>T" "" "VUS" "" "0000458974" "0" "90" "3" "183858305" "183858305" "subst" "1.62456E-5" "00233" "EIF2B5_000001" "g.183858305C>T" "" "{PMID:Wu et al (2009):19158808}" "" "" "submitted through SIB; {EXP:068465}" "Germline" "" "" "0" "" "" "g.184140517C>T" "" "pathogenic" "" "0000458975" "0" "90" "3" "183858488" "183858488" "subst" "0" "00233" "EIF2B5_000002" "g.183858488A>G" "" "{PMID:Wu et al (2009):19158808}" "" "" "submitted through SIB; {EXP:068468}" "Germline" "" "" "0" "" "" "g.184140700A>G" "" "pathogenic" "" "0000458976" "0" "90" "3" "183860062" "183860062" "subst" "4.0655E-6" "00233" "EIF2B5_000003" "g.183860062C>T" "" "{PMID:Wu et al (2009):19158808}" "" "" "submitted through SIB; {EXP:068469}" "Germline" "" "" "0" "" "" "g.184142274C>T" "" "pathogenic" "" "0000458977" "0" "90" "3" "183858366" "183858366" "subst" "0" "00233" "EIF2B5_000004" "g.183858366G>C" "" "{PMID:Wu et al (2009):19158808}" "" "" "submitted through SIB; {EXP:068467}" "Germline" "" "" "0" "" "" "g.184140578G>C" "" "pathogenic" "" "0000458978" "0" "90" "3" "183853358" "183853358" "subst" "0" "00233" "EIF2B5_000005" "g.183853358A>T" "" "{PMID:Wu et al (2009):19158808}" "" "" "submitted through SIB; {EXP:068457}" "Germline" "" "" "0" "" "" "g.184135570A>T" "" "pathogenic" "" "0000458979" "0" "90" "3" "183858378" "183858378" "subst" "0" "00233" "EIF2B5_000006" "g.183858378G>C" "" "{PMID:Wu et al (2009):19158808}" "" "" "submitted through SIB; {EXP:012328}" "Germline" "" "" "0" "" "" "g.184140590G>C" "" "pathogenic" "" "0000458980" "0" "90" "3" "183858378" "183858378" "subst" "0" "00233" "EIF2B5_000006" "g.183858378G>C" "" "{PMID:Leegwater et al (2001):11704758}" "" "" "submitted through SIB; {EXP:012328}" "Germline" "" "" "0" "" "" "g.184140590G>C" "" "pathogenic" "" "0000458981" "0" "90" "3" "183859713" "183859713" "subst" "0" "00233" "EIF2B5_000007" "g.183859713G>T" "" "{PMID:Wu et al (2009):19158808}" "" "" "submitted through SIB; {EXP:012293}" "Germline" "" "" "0" "" "" "g.184141925G>T" "" "pathogenic" "" "0000458982" "0" "90" "3" "183859713" "183859713" "subst" "0" "00233" "EIF2B5_000007" "g.183859713G>T" "" "{PMID:Leegwater et al (2001):11704758}" "" "" "submitted through SIB; {EXP:012293}" "Germline" "" "" "0" "" "" "g.184141925G>T" "" "pathogenic" "" "0000458983" "0" "90" "3" "183855424" "183855424" "subst" "8.12123E-6" "00233" "EIF2B5_000008" "g.183855424C>T" "" "{PMID:Wu et al (2009):19158808}" "" "" "submitted through SIB; {EXP:068460}" "Germline" "" "" "0" "" "" "g.184137636C>T" "" "pathogenic" "" "0000458984" "0" "90" "3" "183857908" "183857908" "subst" "4.06072E-6" "00233" "EIF2B5_000009" "g.183857908G>A" "" "{PMID:Wu et al (2009):19158808}" "" "" "submitted through SIB; {EXP:068462}" "Germline" "" "" "0" "" "" "g.184140120G>A" "" "pathogenic" "" "0000458985" "0" "90" "3" "183857910" "183857910" "subst" "0" "00233" "EIF2B5_000010" "g.183857910G>C" "" "{PMID:Matsukawa et al (2011):21484434}" "" "" "submitted through SIB; {EXP:068463}" "Germline" "" "" "0" "" "" "g.184140122G>C" "" "pathogenic" "" "0000458986" "0" "90" "3" "183857907" "183857907" "subst" "0" "00233" "EIF2B5_000011" "g.183857907C>G" "" "{PMID:Ohlenbusch et al (2005):15776425}" "" "" "submitted through SIB; {EXP:068461}" "Germline" "" "" "0" "" "" "g.184140119C>G" "" "pathogenic" "" "0000458987" "0" "90" "3" "183855425" "183855425" "subst" "0.0002274" "00233" "EIF2B5_000012" "g.183855425G>A" "" "{PMID:Ohlenbusch et al (2005):15776425}" "" "" "submitted through SIB; {EXP:012292}" "Germline" "" "" "0" "" "" "g.184137637G>A" "" "pathogenic" "" "0000458988" "0" "90" "3" "183855425" "183855425" "subst" "0.0002274" "00233" "EIF2B5_000012" "g.183855425G>A" "" "{PMID:Fogli et al (2003):12707859}" "" "" "submitted through SIB; {EXP:012292}" "Germline" "" "" "0" "" "" "g.184137637G>A" "" "pathogenic" "" "0000458989" "0" "90" "3" "183858291" "183858291" "subst" "0" "00233" "EIF2B5_000013" "g.183858291G>T" "" "{PMID:Ohlenbusch et al (2005):15776425}" "" "" "submitted through SIB; {EXP:068464}" "Germline" "" "" "0" "" "" "g.184140503G>T" "" "pathogenic" "" "0000458990" "0" "90" "3" "183854424" "183854424" "subst" "0" "00233" "EIF2B5_000014" "g.183854424G>A" "" "{PMID:Ohlenbusch et al (2005):15776425}" "" "" "submitted through SIB; {EXP:068459}" "Germline" "" "" "0" "" "" "g.184136636G>A" "" "pathogenic" "" "0000458991" "0" "90" "3" "183858365" "183858365" "subst" "0" "00233" "EIF2B5_000015" "g.183858365T>C" "" "{PMID:Ohlenbusch et al (2005):15776425}" "" "" "submitted through SIB; {EXP:068466}" "Germline" "" "" "0" "" "" "g.184140577T>C" "" "pathogenic" "" "0000458992" "0" "90" "3" "183854407" "183854407" "subst" "4.06088E-6" "00233" "EIF2B5_000016" "g.183854407T>C" "" "{PMID:Ohlenbusch et al (2005):15776425}" "" "" "submitted through SIB; {EXP:068458}" "Germline" "" "" "0" "" "" "g.184136619T>C" "" "pathogenic" "" "0000458993" "0" "90" "3" "183854422" "183854422" "subst" "0" "00233" "EIF2B5_000017" "g.183854422T>G" "" "{PMID:Leegwater et al (2001):11704758}" "" "" "submitted through SIB; {EXP:012323}" "Germline" "" "" "0" "" "" "g.184136634T>G" "" "pathogenic" "" "0000458994" "0" "90" "3" "183854522" "183854522" "subst" "4.46853E-5" "00233" "EIF2B5_000018" "g.183854522A>T" "" "{PMID:Leegwater et al (2001):11704758}" "" "" "submitted through SIB; {EXP:012324}" "Germline" "" "" "0" "" "" "g.184136734A>T" "" "pathogenic" "" "0000458995" "0" "90" "3" "183858258" "183858258" "subst" "0" "00233" "EIF2B5_000019" "g.183858258G>A" "" "{PMID:Leegwater et al (2001):11704758}" "" "" "submitted through SIB; {EXP:012325}" "Germline" "" "" "0" "" "" "g.184140470G>A" "" "pathogenic" "" "0000458996" "0" "90" "3" "183858305" "183858305" "subst" "0" "00233" "EIF2B5_000020" "g.183858305C>G" "" "{PMID:Leegwater et al (2001):11704758}" "" "" "submitted through SIB; {EXP:012326}" "Germline" "" "" "0" "" "" "g.184140517C>G" "" "pathogenic" "" "0000458997" "0" "90" "3" "183858306" "183858306" "subst" "1.21857E-5" "00233" "EIF2B5_000021" "g.183858306G>A" "" "{PMID:Leegwater et al (2001):11704758}" "" "" "submitted through SIB; {EXP:012327}" "Germline" "" "" "0" "" "" "g.184140518G>A" "" "pathogenic" "" "0000458998" "0" "90" "3" "183858378" "183858378" "subst" "4.8742E-5" "00233" "EIF2B5_000022" "g.183858378G>A" "" "{PMID:Leegwater et al (2001):11704758}" "" "" "submitted through SIB; {EXP:012329}" "Germline" "" "" "0" "" "" "g.184140590G>A" "" "pathogenic" "" "0000458999" "0" "90" "3" "183858377" "183858377" "subst" "2.84312E-5" "00233" "EIF2B5_000023" "g.183858377C>T" "" "{PMID:Leegwater et al (2001):11704758}" "" "" "submitted through SIB; {EXP:012330}" "Germline" "" "" "0" "" "" "g.184140589C>T" "" "pathogenic" "" "0000459000" "0" "90" "3" "183859845" "183859845" "subst" "8.12156E-6" "00233" "EIF2B5_000024" "g.183859845T>C" "" "{PMID:Leegwater et al (2001):11704758}" "" "" "submitted through SIB; {EXP:012331}" "Germline" "" "" "0" "" "" "g.184142057T>C" "" "pathogenic" "" "0000459001" "0" "90" "3" "183861965" "183861965" "subst" "0" "00233" "EIF2B5_000025" "g.183861965G>A" "" "{PMID:Leegwater et al (2001):11704758}" "" "" "submitted through SIB; {EXP:012333}" "Germline" "" "" "0" "" "" "g.184144177G>A" "" "pathogenic" "" "0000459002" "0" "90" "3" "183855763" "183855763" "subst" "2.0312E-5" "00233" "EIF2B5_000026" "g.183855763G>A" "" "{PMID:Fogli et al (2002):12325082}" "" "" "submitted through SIB; {EXP:016846}" "Germline" "" "" "0" "" "" "g.184137975G>A" "" "pathogenic" "" "0000459003" "0" "90" "3" "183855762" "183855762" "subst" "0" "00233" "EIF2B5_000027" "g.183855762C>T" "" "{PMID:Fogli et al (2003):12707859}" "" "" "submitted through SIB; {EXP:016845}" "Germline" "" "" "0" "" "" "g.184137974C>T" "" "pathogenic" "" "0000500608" "0" "50" "3" "183855847" "183855847" "subst" "0" "01807" "EIF2B5_000039" "g.183855847G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.184138059G>C" "" "VUS" "" "0000518595" "0" "90" "3" "183858308" "183858308" "subst" "0" "02329" "EIF2B5_000040" "g.183858308C>T" "" "" "" "EIF2B5(NM_003907.3):c.946C>T (p.R316*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.184140520C>T" "" "pathogenic" "" "0000518597" "0" "50" "3" "183861951" "183861951" "subst" "0.000272106" "01943" "EIF2B5_000042" "g.183861951C>T" "" "" "" "EIF2B5(NM_003907.3):c.1934C>T (p.A645V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.184144163C>T" "" "VUS" "" "0000621218" "0" "30" "3" "183861932" "183861932" "subst" "3.65527E-5" "01943" "EIF2B5_000037" "g.183861932G>A" "" "" "" "EIF2B5(NM_003907.3):c.1915G>A (p.A639T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.184144144G>A" "" "likely benign" "" "0000651146" "1" "90" "3" "183855763" "183855763" "subst" "2.0312E-5" "03575" "EIF2B5_000026" "g.183855763G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs113994054}" "Germline" "" "rs113994054" "0" "" "" "g.184137975G>A" "" "pathogenic" "" "0000676897" "0" "50" "3" "183855425" "183855425" "subst" "0.0002274" "01943" "EIF2B5_000012" "g.183855425G>A" "" "" "" "EIF2B5(NM_003907.3):c.338G>A (p.R113H, p.(Arg113His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676898" "0" "50" "3" "183855780" "183855780" "subst" "1.62553E-5" "01943" "EIF2B5_000043" "g.183855780G>A" "" "" "" "EIF2B5(NM_003907.3):c.601G>A (p.V201M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688988" "0" "30" "3" "183854503" "183854503" "subst" "0.000430527" "01943" "EIF2B5_000044" "g.183854503C>T" "" "" "" "EIF2B5(NM_003907.3):c.299C>T (p.A100V, p.(Ala100Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719291" "0" "50" "3" "183855693" "183855693" "subst" "4.87401E-5" "01943" "EIF2B5_000045" "g.183855693C>T" "" "" "" "EIF2B5(NM_003907.3):c.514C>T (p.R172W, p.(Arg172Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719292" "0" "90" "3" "183860168" "183860168" "subst" "0" "02329" "EIF2B5_000035" "g.183860168T>C" "" "" "" "EIF2B5(NM_003907.3):c.1444+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000787269" "3" "50" "3" "183856014" "183856014" "subst" "0" "00006" "EIF2B5_000046" "g.183856014A>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.184138226A>T" "" "VUS" "" "0000795642" "3" "70" "3" "183855494" "183855494" "subst" "0" "00000" "EIF2B5_000047" "g.183855494G>A" "" "{PMID:Nair 2018:30293248}" "" "NM_003907.2:c.407G>A; p.Arg136His" "" "Unknown" "?" "rs958193703" "0" "" "" "g.184137706G>A" "" "likely pathogenic" "" "0000885647" "0" "10" "3" "183861243" "183861243" "subst" "0.350754" "02329" "EIF2B5_000036" "g.183861243A>G" "" "" "" "EIF2B5(NM_003907.3):c.1759A>G (p.I587V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923877" "0" "30" "3" "183860871" "183860871" "subst" "0.00220591" "02326" "EIF2B5_000048" "g.183860871G>A" "" "" "" "EIF2B5(NM_003907.3):c.1686G>A (p.(Gln562=), p.Q562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975675" "0" "90" "3" "183855425" "183855425" "subst" "0.0002274" "01804" "EIF2B5_000012" "g.183855425G>A" "" "" "" "EIF2B5(NM_003907.3):c.338G>A (p.R113H, p.(Arg113His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975676" "0" "50" "3" "183858393" "183858393" "subst" "1.21844E-5" "01804" "EIF2B5_000049" "g.183858393G>A" "" "" "" "EIF2B5(NM_003907.3):c.1031G>A (p.(Arg344Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975677" "0" "50" "3" "183858417" "183858417" "subst" "0" "01804" "EIF2B5_000050" "g.183858417A>G" "" "" "" "EIF2B5(NM_003907.3):c.1055A>G (p.(His352Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975678" "0" "30" "3" "183860063" "183860063" "subst" "0.00671648" "01804" "EIF2B5_000051" "g.183860063G>A" "" "" "" "EIF2B5(NM_003907.3):c.1341G>A (p.(Ser447=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975679" "0" "50" "3" "183860894" "183860894" "subst" "4.0709E-6" "01804" "EIF2B5_000052" "g.183860894C>T" "" "" "" "EIF2B5(NM_003907.3):c.1709C>T (p.(Ser570Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985201" "0" "90" "3" "183855709" "183855709" "dup" "0" "03779" "EIF2B5_000053" "g.183855709dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000993465" "0" "70" "3" "183859764" "183859764" "subst" "1.62747E-5" "01804" "EIF2B5_000034" "g.183859764C>T" "" "" "" "EIF2B5(NM_003907.2):c.1208C>T (p.(Ala403Val)), EIF2B5(NM_003907.3):c.1208C>T (p.A403V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001007065" "11" "90" "3" "183857908" "183857908" "subst" "4.06072E-6" "03544" "EIF2B5_000009" "g.183857908G>A" "" "" "" "" "" "Germline" "" "rs113994057" "0" "" "" "g.184140120G>A" "{CV:942204}" "pathogenic" "ACMG" "0001007066" "21" "70" "3" "183858309" "183858309" "subst" "8.12394E-6" "03544" "EIF2B5_000054" "g.183858309G>A" "" "" "" "" "" "Germline" "yes" "rs766187010" "0" "" "" "g.184140521G>A" "" "likely pathogenic" "ACMG" "0001011898" "3" "90" "3" "183854522" "183854522" "subst" "4.46853E-5" "00006" "EIF2B5_000018" "g.183854522A>T" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.184136734A>T" "VCV000195203.1" "pathogenic (recessive)" "" "0001011927" "3" "90" "3" "183854522" "183854522" "subst" "4.46853E-5" "00006" "EIF2B5_000018" "g.183854522A>T" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.184136734A>T" "VCV000195203.1" "pathogenic (recessive)" "" "0001011947" "1" "90" "3" "183858306" "183858306" "subst" "1.21857E-5" "00006" "EIF2B5_000021" "g.183858306G>A" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.184140518G>A" "VCV000005950.2" "pathogenic (recessive)" "" "0001012005" "2" "90" "3" "183858378" "183858378" "subst" "4.8742E-5" "00006" "EIF2B5_000022" "g.183858378G>A" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.184140590G>A" "VCV000381579.4" "pathogenic (recessive)" "" "0001033824" "0" "50" "3" "183853307" "183853307" "subst" "0.000136064" "01804" "EIF2B5_000055" "g.183853307C>G" "" "" "" "EIF2B5(NM_003907.3):c.134C>G (p.(Ala45Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033825" "0" "30" "3" "183854503" "183854503" "subst" "0.000430527" "01804" "EIF2B5_000044" "g.183854503C>T" "" "" "" "EIF2B5(NM_003907.3):c.299C>T (p.A100V, p.(Ala100Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033826" "0" "50" "3" "183855693" "183855693" "subst" "4.87401E-5" "01804" "EIF2B5_000045" "g.183855693C>T" "" "" "" "EIF2B5(NM_003907.3):c.514C>T (p.R172W, p.(Arg172Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033827" "0" "90" "3" "183858377" "183858377" "subst" "2.84312E-5" "01804" "EIF2B5_000023" "g.183858377C>T" "" "" "" "EIF2B5(NM_003907.3):c.1015C>T (p.(Arg339Trp), p.R339W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033828" "0" "30" "3" "183860397" "183860397" "subst" "0" "01804" "EIF2B5_000056" "g.183860397C>A" "" "" "" "EIF2B5(NM_003907.3):c.1546+6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033829" "0" "10" "3" "183860871" "183860871" "subst" "0.00220591" "01804" "EIF2B5_000048" "g.183860871G>A" "" "" "" "EIF2B5(NM_003907.3):c.1686G>A (p.(Gln562=), p.Q562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes EIF2B5 ## Count = 70 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000248800" "00006972" "10" "1759" "0" "1759" "0" "c.1759A>G" "r.(?)" "p.(Ile587Val)" "" "0000255842" "00006972" "50" "135" "0" "135" "0" "c.135A>G" "r.(?)" "p.(Ala45=)" "" "0000267799" "00006972" "90" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Trp)" "" "0000267800" "00006972" "70" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000267801" "00006972" "50" "1915" "0" "1915" "0" "c.1915G>A" "r.(?)" "p.(Ala639Thr)" "" "0000276044" "00006972" "30" "966" "0" "966" "0" "c.966C>G" "r.(?)" "p.(Thr322=)" "" "0000343105" "00006972" "50" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Arg55Cys)" "" "0000458974" "00006972" "90" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Arg315Cys)" "?" "0000458975" "00006972" "90" "1126" "0" "1126" "0" "c.1126A>G" "r.(?)" "p.(Asn376Asp)" "?" "0000458976" "00006972" "90" "1340" "0" "1340" "0" "c.1340C>T" "r.(?)" "p.(Ser447Leu)" "?" "0000458977" "00006972" "90" "1004" "0" "1004" "0" "c.1004G>C" "r.(?)" "p.(Cys335Ser)" "?" "0000458978" "00006972" "90" "185" "0" "185" "0" "c.185A>T" "r.(?)" "p.(Asp62Val)" "?" "0000458979" "00006972" "90" "1016" "0" "1016" "0" "c.1016G>C" "r.(?)" "p.(Arg339Pro)" "?" "0000458980" "00006972" "90" "1016" "0" "1016" "0" "c.1016G>C" "r.(?)" "p.(Arg339Pro)" "?" "0000458981" "00006972" "90" "1157" "0" "1157" "0" "c.1157G>T" "r.(?)" "p.(Gly386Val)" "?" "0000458982" "00006972" "90" "1157" "0" "1157" "0" "c.1157G>T" "r.(?)" "p.(Gly386Val)" "?" "0000458983" "00006972" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Cys)" "?" "0000458984" "00006972" "90" "806" "0" "806" "0" "c.806G>A" "r.(?)" "p.(Arg269Gln)" "?" "0000458985" "00006972" "90" "808" "0" "808" "0" "c.808G>C" "r.(?)" "p.(Asp270His)" "?" "0000458986" "00006972" "90" "805" "0" "805" "0" "c.805C>G" "r.(?)" "p.(Arg269Gly)" "?" "0000458987" "00006972" "90" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Arg113His)" "?" "0000458988" "00006972" "90" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Arg113His)" "?" "0000458989" "00006972" "90" "929" "0" "929" "0" "c.929G>T" "r.(?)" "p.(Cys310Phe)" "?" "0000458990" "00006972" "90" "220" "0" "220" "0" "c.220G>A" "r.(?)" "p.(Ala74Thr)" "?" "0000458991" "00006972" "90" "1003" "0" "1003" "0" "c.1003T>C" "r.(?)" "p.(Cys335Arg)" "?" "0000458992" "00006972" "90" "203" "0" "203" "0" "c.203T>C" "r.(?)" "p.(Leu68Ser)" "?" "0000458993" "00006972" "90" "218" "0" "218" "0" "c.218T>G" "r.(?)" "p.(Val73Gly)" "?" "0000458994" "00006972" "90" "318" "0" "318" "0" "c.318A>T" "r.(?)" "p.(Leu106Phe)" "?" "0000458995" "00006972" "90" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Arg299His)" "?" "0000458996" "00006972" "90" "943" "0" "943" "0" "c.943C>G" "r.(?)" "p.(Arg315Gly)" "?" "0000458997" "00006972" "90" "944" "0" "944" "0" "c.944G>A" "r.(?)" "p.(Arg315His)" "?" "0000458998" "00006972" "90" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Arg339Gln)" "?" "0000458999" "00006972" "90" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Trp)" "?" "0000459000" "00006972" "90" "1289" "0" "1289" "0" "c.1289T>C" "r.(?)" "p.(Val430Ala)" "?" "0000459001" "00006972" "90" "1948" "0" "1948" "0" "c.1948G>A" "r.(?)" "p.(Glu650Lys)" "?" "0000459002" "00006972" "90" "584" "0" "584" "0" "c.584G>A" "r.(?)" "p.(Arg195His)" "?" "0000459003" "00006972" "90" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Arg195Cys)" "?" "0000500608" "00006972" "50" "668" "0" "668" "0" "c.668G>C" "r.(?)" "p.(Arg223Pro)" "" "0000518595" "00006972" "90" "946" "0" "946" "0" "c.946C>T" "r.(?)" "p.(Arg316Ter)" "" "0000518597" "00006972" "50" "1934" "0" "1934" "0" "c.1934C>T" "r.(?)" "p.(Ala645Val)" "" "0000621218" "00006972" "30" "1915" "0" "1915" "0" "c.1915G>A" "r.(?)" "p.(Ala639Thr)" "" "0000651146" "00006972" "90" "584" "0" "584" "0" "c.584G>A" "r.(?)" "p.(Arg195His)" "" "0000676897" "00006972" "50" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Arg113His)" "" "0000676898" "00006972" "50" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Val201Met)" "" "0000688988" "00006972" "30" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Ala100Val)" "" "0000719291" "00006972" "50" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000719292" "00006972" "90" "1444" "2" "1444" "2" "c.1444+2T>C" "r.spl?" "p.?" "" "0000787269" "00006972" "50" "745" "0" "745" "0" "c.745A>T" "r.(?)" "p.(Ile249Phe)" "5" "0000795642" "00006972" "70" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "" "0000885647" "00006972" "10" "1759" "0" "1759" "0" "c.1759A>G" "r.(?)" "p.(Ile587Val)" "" "0000923877" "00006972" "30" "1686" "0" "1686" "0" "c.1686G>A" "r.(?)" "p.(Gln562=)" "" "0000975675" "00006972" "90" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Arg113His)" "" "0000975676" "00006972" "50" "1031" "0" "1031" "0" "c.1031G>A" "r.(?)" "p.(Arg344Gln)" "" "0000975677" "00006972" "50" "1055" "0" "1055" "0" "c.1055A>G" "r.(?)" "p.(His352Arg)" "" "0000975678" "00006972" "30" "1341" "0" "1341" "0" "c.1341G>A" "r.(?)" "p.(=)" "" "0000975679" "00006972" "50" "1709" "0" "1709" "0" "c.1709C>T" "r.(?)" "p.(Ser570Phe)" "" "0000985201" "00006972" "90" "530" "0" "530" "0" "c.530dup" "r.(?)" "p.(Asn177LysfsTer31)" "" "0000993465" "00006972" "70" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0001007065" "00006972" "90" "806" "0" "806" "0" "c.806G>A" "r.(?)" "p.(Arg269Gln)" "6" "0001007066" "00006972" "70" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Arg316Gln)" "7" "0001011898" "00006972" "90" "318" "0" "318" "0" "c.318A>T" "r.(?)" "p.(Leu106Phe)" "" "0001011927" "00006972" "90" "318" "0" "318" "0" "c.318A>T" "r.(?)" "p.(Leu106Phe)" "" "0001011947" "00006972" "90" "944" "0" "944" "0" "c.944G>A" "r.(?)" "p.(Arg315His)" "" "0001012005" "00006972" "90" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Arg339Gln)" "" "0001033824" "00006972" "50" "134" "0" "134" "0" "c.134C>G" "r.(?)" "p.(Ala45Gly)" "" "0001033825" "00006972" "30" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Ala100Val)" "" "0001033826" "00006972" "50" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0001033827" "00006972" "90" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Trp)" "" "0001033828" "00006972" "30" "1546" "6" "1546" "6" "c.1546+6C>A" "r.(=)" "p.(=)" "" "0001033829" "00006972" "10" "1686" "0" "1686" "0" "c.1686G>A" "r.(?)" "p.(Gln562=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{variantid}}" "0000226633" "0000458974" "0000226634" "0000458975" "0000226635" "0000458976" "0000226636" "0000458977" "0000226637" "0000458978" "0000226638" "0000458979" "0000226639" "0000458980" "0000226640" "0000458981" "0000226641" "0000458982" "0000226642" "0000458983" "0000226643" "0000458984" "0000226644" "0000458985" "0000226645" "0000458986" "0000226646" "0000458987" "0000226647" "0000458988" "0000226648" "0000458989" "0000226649" "0000458990" "0000226650" "0000458991" "0000226651" "0000458992" "0000226652" "0000458993" "0000226653" "0000458994" "0000226654" "0000458995" "0000226655" "0000458996" "0000226656" "0000458997" "0000226657" "0000458998" "0000226658" "0000458999" "0000226659" "0000459000" "0000226660" "0000459001" "0000226661" "0000459002" "0000226662" "0000459003" "0000247739" "0000500608" "0000294457" "0000651146" "0000375918" "0000787269" "0000382008" "0000795642" "0000455079" "0001007065" "0000455079" "0001007066" "0000457395" "0001011898" "0000457424" "0001011927" "0000457444" "0001011947" "0000457444" "0001012005"