### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EIF2B4) # 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}}" "EIF2B4" "eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa" "2" "p23.3" "unknown" "NG_009305.1" "UD_132119124771" "" "https://www.LOVD.nl/EIF2B4" "" "1" "3260" "8890" "606687" "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/EIF2B4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2019-02-17 17:35:08" "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}}" "00006971" "EIF2B4" "transcript variant 2" "002" "NM_001034116.1" "" "NP_001029288.1" "" "" "" "-143" "1620" "1572" "27593324" "27587219" "" "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}}" "EIF2B4" "02470" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00225545" "" "" "" "1" "" "00233" "{PMID:15776425 abstract:15776425}" "" "" "" "" "" "0" "" "" "" "" "00225546" "" "" "" "1" "" "00233" "{PMID:15776425 abstract:15776425}" "" "" "" "" "" "0" "" "" "" "" "00225547" "" "" "" "1" "" "00233" "{PMID:11835386 abstract:11835386}" "" "" "" "" "" "0" "" "" "" "" "00225548" "" "" "" "1" "" "00233" "{PMID:15776425 abstract:15776425}" "" "" "" "" "" "0" "" "" "" "" "00225549" "" "" "" "1" "" "00233" "{PMID:11835386 abstract:11835386}" "" "" "" "" "" "0" "" "" "" "" "00225550" "" "" "" "1" "" "00233" "{PMID:11835386 abstract:11835386}" "" "" "" "" "" "0" "" "" "" "" "00225551" "" "" "" "1" "" "00233" "{PMID:12707859 abstract:12707859}" "" "" "" "" "" "0" "" "" "" "" "00225552" "" "" "" "1" "" "00233" "{PMID:12707859 abstract:12707859}" "" "" "" "" "" "0" "" "" "" "" "00225553" "" "" "" "1" "" "00233" "{PMID:11835386 abstract:11835386}" "" "" "" "" "" "0" "" "" "" "" "00292700" "" "" "" "25" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00335516" "" "" "" "1" "" "03566" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00225545" "02470" "00225546" "02470" "00225547" "02470" "00225548" "02470" "00225549" "02470" "00225550" "02470" "00225551" "02470" "00225552" "02470" "00225553" "02470" "00292700" "00198" "00335516" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02470 ## Count = 10 "{{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}}" "0000170659" "02470" "00225545" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170660" "02470" "00225546" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170661" "02470" "00225547" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170662" "02470" "00225548" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170663" "02470" "00225549" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170664" "02470" "00225550" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170665" "02470" "00225551" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170666" "02470" "00225552" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000170667" "02470" "00225553" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWM" "leukoencephalopathy with vanishing white matter" "" "0000253461" "00198" "00335516" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000226624" "00225545" "1" "00233" "00000" "2012-08-09 15:58:16" "" "" "SEQ" "DNA" "" "" "0000226625" "00225546" "1" "00233" "00000" "2012-08-09 15:58:16" "" "" "SEQ" "DNA" "" "" "0000226626" "00225547" "1" "00233" "00000" "2012-08-09 15:58:16" "" "" "SEQ" "DNA" "" "" "0000226627" "00225548" "1" "00233" "00000" "2012-08-09 15:58:16" "" "" "SEQ" "DNA" "" "" "0000226628" "00225549" "1" "00233" "00000" "2012-08-09 15:58:16" "" "" "SEQ" "DNA" "" "" "0000226629" "00225550" "1" "00233" "00000" "2012-08-09 15:58:16" "" "" "SEQ" "DNA" "" "" "0000226630" "00225551" "1" "00233" "00000" "2012-08-09 15:58:16" "" "" "SEQ" "DNA" "" "" "0000226631" "00225552" "1" "00233" "00000" "2012-08-09 15:58:16" "" "" "SEQ" "DNA" "" "" "0000226632" "00225553" "1" "00233" "00000" "2012-08-09 15:58:16" "" "" "SEQ" "DNA" "" "" "0000293868" "00292700" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000336745" "00335516" "1" "03566" "03566" "2021-03-07 07:34:27" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000226624" "EIF2B4" "0000226625" "EIF2B4" "0000226626" "EIF2B4" "0000226627" "EIF2B4" "0000226628" "EIF2B4" "0000226629" "EIF2B4" "0000226630" "EIF2B4" "0000226631" "EIF2B4" "0000226632" "EIF2B4" ## 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 = 39 "{{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}}" "0000267797" "0" "10" "2" "27589810" "27589810" "subst" "0.400838" "02325" "EIF2B4_000013" "g.27589810T>C" "" "" "" "EIF2B4(NM_001034116.2):c.1014-7A>G, EIF2B4(NM_001318966.2):c.969-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27366943T>C" "" "benign" "" "0000267798" "0" "10" "2" "27592423" "27592423" "subst" "0.398784" "02325" "EIF2B4_000016" "g.27592423C>T" "" "" "" "EIF2B4(NM_001034116.2):c.76-7G>A, EIF2B4(NM_001318966.2):c.31-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27369556C>T" "" "benign" "" "0000276039" "0" "30" "2" "27587447" "27587447" "subst" "0.00400835" "01943" "EIF2B4_000011" "g.27587447T>C" "" "" "" "EIF2B4(NM_001318966.1):c.1347A>G (p.Q449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27364580T>C" "" "likely benign" "" "0000276040" "0" "30" "2" "27593162" "27593162" "subst" "0" "01943" "EIF2B4_000018" "g.27593162G>A" "" "" "" "EIF2B4(NM_001034116.1):c.20C>T (p.A7V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27370295G>A" "" "likely benign" "" "0000276041" "0" "10" "2" "27593155" "27593155" "subst" "0.00105321" "01943" "EIF2B4_000017" "g.27593155G>A" "" "" "" "EIF2B4(NM_001034116.1):c.27C>T (p.R9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27370288G>A" "" "benign" "" "0000276042" "0" "30" "2" "27591591" "27591591" "subst" "0.000195003" "01943" "EIF2B4_000015" "g.27591591C>T" "" "" "" "EIF2B4(NM_001034116.1):c.428G>A (p.R143H, p.(Arg143His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27368724C>T" "" "likely benign" "" "0000276043" "0" "30" "2" "27590316" "27590316" "subst" "7.72326E-5" "01943" "EIF2B4_000014" "g.27590316C>G" "" "" "" "EIF2B4(NM_001318966.1):c.840+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27367449C>G" "" "likely benign" "" "0000326911" "0" "50" "2" "27587723" "27587723" "subst" "0" "01804" "EIF2B4_000012" "g.27587723C>T" "" "" "" "EIF2B4(NM_001034116.1):c.1234G>A (p.(Gly412Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27364856C>T" "" "VUS" "" "0000326912" "0" "50" "2" "27597588" "27597588" "subst" "9.74548E-5" "01804" "SNX17_000001" "g.27597588T>C" "" "" "" "SNX17(NM_001267059.1):c.608T>C (p.(Met203Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27374721T>C" "" "VUS" "" "0000458965" "0" "90" "2" "27590403" "27590403" "subst" "0" "00233" "EIF2B4_000001" "g.27590403A>C" "" "{PMID:Ohlenbusch et al (2005):15776425}" "" "" "submitted through SIB; {EXP:068456}" "Germline" "" "" "0" "" "" "g.27367536A>C" "" "pathogenic" "" "0000458966" "0" "90" "2" "27589697" "27589697" "subst" "6.49709E-5" "00233" "EIF2B4_000002" "g.27589697G>A" "" "{PMID:Ohlenbusch et al (2005):15776425}" "" "" "submitted through SIB; {EXP:015408}" "Germline" "" "" "0" "" "" "g.27366830G>A" "" "pathogenic" "" "0000458967" "0" "90" "2" "27589697" "27589697" "subst" "6.49709E-5" "00233" "EIF2B4_000002" "g.27589697G>A" "" "{PMID:van der Knaap et al (2002):11835386}" "" "" "submitted through SIB; {EXP:015408}" "Germline" "" "" "0" "" "" "g.27366830G>A" "" "pathogenic" "" "0000458968" "0" "90" "2" "27590971" "27590971" "subst" "0" "00233" "EIF2B4_000003" "g.27590971C>T" "" "{PMID:Ohlenbusch et al (2005):15776425}" "" "" "submitted through SIB; {EXP:068455}" "Germline" "" "" "0" "" "" "g.27368104C>T" "" "pathogenic" "" "0000458969" "0" "90" "2" "27590914" "27590914" "subst" "0" "00233" "EIF2B4_000004" "g.27590914G>A" "" "{PMID:van der Knaap et al (2002):11835386}" "" "" "submitted through SIB; {EXP:015405}" "Germline" "" "" "0" "" "" "g.27368047G>A" "" "pathogenic" "" "0000458970" "0" "90" "2" "27589747" "27589747" "subst" "1.21843E-5" "00233" "EIF2B4_000005" "g.27589747C>T" "" "{PMID:van der Knaap et al (2002):11835386}" "" "" "submitted through SIB; {EXP:015407}" "Germline" "" "" "0" "" "" "g.27366880C>T" "" "pathogenic" "" "0000458971" "0" "90" "2" "27587446" "27587446" "subst" "0" "00233" "EIF2B4_000006" "g.27587446A>G" "" "{PMID:Fogli et al (2003):12707859}" "" "" "submitted through SIB; {EXP:016843}" "Germline" "" "" "0" "" "" "g.27364579A>G" "" "pathogenic" "" "0000458972" "0" "90" "2" "27587374" "27587374" "subst" "4.06088E-6" "00233" "EIF2B4_000007" "g.27587374A>G" "" "{PMID:Fogli et al (2003):12707859}" "" "" "submitted through SIB; {EXP:016844}" "Germline" "" "" "0" "" "" "g.27364507A>G" "" "pathogenic" "" "0000458973" "0" "11" "2" "27590038" "27590038" "subst" "0.0155816" "00233" "EIF2B4_000008" "g.27590038G>C" "" "{PMID:van der Knaap et al (2002):11835386}" "" "" "submitted through SIB; {EXP:015406}; Corresponds to rs78599355 in dbSNP" "Germline" "" "" "0" "" "" "g.27367171G>C" "" "benign" "" "0000515546" "0" "50" "2" "27592744" "27592744" "subst" "0" "01943" "EIF2B4_000019" "g.27592744C>A" "" "" "" "EIF2B4(NM_001034116.2):c.74G>T (p.(Gly25Val)), EIF2B4(NM_001318966.1):c.29G>T (p.G10V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27369877C>A" "" "VUS" "" "0000607889" "0" "30" "2" "27589933" "27589933" "subst" "7.31267E-5" "01943" "EIF2B4_000020" "g.27589933G>A" "" "" "" "EIF2B4(NM_001318966.1):c.968+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27367066G>A" "" "likely benign" "" "0000650557" "1" "10" "2" "27587724" "27587724" "subst" "0.0115082" "03575" "EIF2B4_000021" "g.27587724G>A" "25/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "25 heterozygous, no homozygous; {DB:CLININrs1058065}" "Germline" "" "rs1058065" "0" "" "" "g.27364857G>A" "" "benign" "" "0000676609" "0" "30" "2" "27592755" "27592755" "subst" "0" "01943" "EIF2B4_000022" "g.27592755G>A" "" "" "" "EIF2B4(NM_001318966.1):c.18C>T (p.P6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718727" "0" "30" "2" "27592296" "27592296" "subst" "0.000150244" "01943" "EIF2B4_000023" "g.27592296C>T" "" "" "" "EIF2B4(NM_001318966.1):c.151G>A (p.A51T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000736275" "0" "90" "2" "27589685" "27589685" "subst" "4.06065E-6" "03566" "EIF2B4_000024" "g.27589685G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27366818G>A" "" "pathogenic" "" "0000800563" "0" "30" "2" "27591919" "27591919" "subst" "0.00059285" "01943" "EIF2B4_000025" "g.27591919T>C" "" "" "" "EIF2B4(NM_001318966.1):c.327A>G (p.G109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911681" "0" "10" "2" "27589810" "27589810" "subst" "0.400838" "02329" "EIF2B4_000013" "g.27589810T>C" "" "" "" "EIF2B4(NM_001034116.2):c.1014-7A>G, EIF2B4(NM_001318966.2):c.969-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911682" "0" "10" "2" "27592101" "27592101" "del" "0" "02329" "EIF2B4_000026" "g.27592101del" "" "" "" "EIF2B4(NM_001318966.2):c.167-12delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911683" "0" "10" "2" "27592423" "27592423" "subst" "0.398784" "02329" "EIF2B4_000016" "g.27592423C>T" "" "" "" "EIF2B4(NM_001034116.2):c.76-7G>A, EIF2B4(NM_001318966.2):c.31-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923676" "0" "10" "2" "27592101" "27592101" "dup" "0" "02329" "EIF2B4_000027" "g.27592101dup" "" "" "" "EIF2B4(NM_001318966.2):c.167-12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000975200" "0" "50" "2" "27589799" "27589799" "subst" "0" "01804" "EIF2B4_000028" "g.27589799A>G" "" "" "" "EIF2B4(NM_001034116.2):c.1018T>C (p.(Ser340Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975201" "0" "30" "2" "27590038" "27590038" "subst" "0.0155816" "01804" "EIF2B4_000008" "g.27590038G>C" "" "" "" "EIF2B4(NM_001034116.2):c.916C>G (p.(Arg306Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975202" "0" "10" "2" "27590666" "27590666" "subst" "0.0170121" "01804" "EIF2B4_000029" "g.27590666C>T" "" "" "" "EIF2B4(NM_001034116.2):c.729G>A (p.(Pro243=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000975203" "0" "50" "2" "27591523" "27591523" "subst" "0" "01804" "EIF2B4_000030" "g.27591523G>C" "" "" "" "EIF2B4(NM_001034116.2):c.496C>G (p.(Gln166Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992790" "0" "70" "2" "27587605" "27587605" "subst" "0" "02329" "EIF2B4_000031" "g.27587605G>C" "" "" "" "EIF2B4(NM_001318966.2):c.1307C>G (p.A436G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000992791" "0" "30" "2" "27591591" "27591591" "subst" "0.000195003" "01804" "EIF2B4_000015" "g.27591591C>T" "" "" "" "EIF2B4(NM_001034116.1):c.428G>A (p.R143H, p.(Arg143His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013718" "0" "10" "2" "27587724" "27587724" "subst" "0.0115082" "02329" "EIF2B4_000021" "g.27587724G>A" "" "" "" "EIF2B4(NM_001034116.2):c.1233C>T (p.(Asn411=)), EIF2B4(NM_001318966.2):c.1188C>T (p.N396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001033253" "0" "30" "2" "27587724" "27587724" "subst" "0.0115082" "01804" "EIF2B4_000021" "g.27587724G>A" "" "" "" "EIF2B4(NM_001034116.2):c.1233C>T (p.(Asn411=)), EIF2B4(NM_001318966.2):c.1188C>T (p.N396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033254" "0" "50" "2" "27589688" "27589688" "subst" "1.21819E-5" "01804" "EIF2B4_000032" "g.27589688C>G" "" "" "" "EIF2B4(NM_001034116.2):c.1129G>C (p.(Val377Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033255" "0" "50" "2" "27592744" "27592744" "subst" "0" "01804" "EIF2B4_000019" "g.27592744C>A" "" "" "" "EIF2B4(NM_001034116.2):c.74G>T (p.(Gly25Val)), EIF2B4(NM_001318966.1):c.29G>T (p.G10V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 EIF2B4 ## Count = 39 "{{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}}" "0000267797" "00006971" "10" "1014" "-7" "1014" "-7" "c.1014-7A>G" "r.(=)" "p.(=)" "" "0000267798" "00006971" "10" "76" "-7" "76" "-7" "c.76-7G>A" "r.(=)" "p.(=)" "" "0000276039" "00006971" "30" "1392" "0" "1392" "0" "c.1392A>G" "r.(?)" "p.(Gln464=)" "" "0000276040" "00006971" "30" "20" "0" "20" "0" "c.20C>T" "r.(?)" "p.(Ala7Val)" "" "0000276041" "00006971" "10" "27" "0" "27" "0" "c.27C>T" "r.(?)" "p.(Arg9=)" "" "0000276042" "00006971" "30" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Arg143His)" "" "0000276043" "00006971" "30" "885" "8" "885" "8" "c.885+8G>C" "r.(=)" "p.(=)" "" "0000326911" "00006971" "50" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Gly412Arg)" "" "0000326912" "00006971" "50" "-4407" "0" "-4407" "0" "c.-4407A>G" "r.(?)" "p.(=)" "" "0000458965" "00006971" "90" "806" "0" "806" "0" "c.806T>G" "r.(?)" "p.(Leu269Arg)" "" "0000458966" "00006971" "90" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Arg374Cys)" "" "0000458967" "00006971" "90" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Arg374Cys)" "" "0000458968" "00006971" "90" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209Gln)" "" "0000458969" "00006971" "90" "683" "0" "683" "0" "c.683C>T" "r.(?)" "p.(Ala228Val)" "" "0000458970" "00006971" "90" "1070" "0" "1070" "0" "c.1070G>A" "r.(?)" "p.(Arg357Gln)" "" "0000458971" "00006971" "90" "1393" "0" "1393" "0" "c.1393T>C" "r.(?)" "p.(Cys465Arg)" "" "0000458972" "00006971" "90" "1465" "0" "1465" "0" "c.1465T>C" "r.(?)" "p.(Tyr489His)" "" "0000458973" "00006971" "11" "916" "0" "916" "0" "c.916C>G" "r.(?)" "p.(Arg306Gly)" "" "0000515546" "00006971" "50" "74" "0" "74" "0" "c.74G>T" "r.(?)" "p.(Gly25Val)" "" "0000607889" "00006971" "30" "1013" "8" "1013" "8" "c.1013+8C>T" "r.(=)" "p.(=)" "" "0000650557" "00006971" "10" "1233" "0" "1233" "0" "c.1233C>T" "r.(=)" "p.(=)" "" "0000676609" "00006971" "30" "63" "0" "63" "0" "c.63C>T" "r.(?)" "p.(Pro21=)" "" "0000718727" "00006971" "30" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Ala66Thr)" "" "0000736275" "00006971" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(His378Tyr)" "" "0000800563" "00006971" "30" "372" "0" "372" "0" "c.372A>G" "r.(?)" "p.(Gly124=)" "" "0000911681" "00006971" "10" "1014" "-7" "1014" "-7" "c.1014-7A>G" "r.(=)" "p.(=)" "" "0000911682" "00006971" "10" "212" "-12" "212" "-12" "c.212-12del" "r.(=)" "p.(=)" "" "0000911683" "00006971" "10" "76" "-7" "76" "-7" "c.76-7G>A" "r.(=)" "p.(=)" "" "0000923676" "00006971" "10" "212" "-12" "212" "-12" "c.212-12dup" "r.(=)" "p.(=)" "" "0000975200" "00006971" "50" "1018" "0" "1018" "0" "c.1018T>C" "r.(?)" "p.(Ser340Pro)" "" "0000975201" "00006971" "30" "916" "0" "916" "0" "c.916C>G" "r.(?)" "p.(Arg306Gly)" "" "0000975202" "00006971" "10" "729" "0" "729" "0" "c.729G>A" "r.(?)" "p.(=)" "" "0000975203" "00006971" "50" "496" "0" "496" "0" "c.496C>G" "r.(?)" "p.(Gln166Glu)" "" "0000992790" "00006971" "70" "1352" "0" "1352" "0" "c.1352C>G" "r.(?)" "p.(Ala451Gly)" "" "0000992791" "00006971" "30" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Arg143His)" "" "0001013718" "00006971" "10" "1233" "0" "1233" "0" "c.1233C>T" "r.(?)" "p.(=)" "" "0001033253" "00006971" "30" "1233" "0" "1233" "0" "c.1233C>T" "r.(?)" "p.(=)" "" "0001033254" "00006971" "50" "1129" "0" "1129" "0" "c.1129G>C" "r.(?)" "p.(Val377Leu)" "" "0001033255" "00006971" "50" "74" "0" "74" "0" "c.74G>T" "r.(?)" "p.(Gly25Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000226624" "0000458965" "0000226625" "0000458966" "0000226626" "0000458967" "0000226627" "0000458968" "0000226628" "0000458969" "0000226629" "0000458970" "0000226630" "0000458971" "0000226631" "0000458972" "0000226632" "0000458973" "0000293868" "0000650557" "0000336745" "0000736275"