### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EEF1A2) # 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}}" "EEF1A2" "eukaryotic translation elongation factor 1 alpha 2" "20" "q13.3" "unknown" "NG_034083.1" "UD_136021657752" "" "https://www.LOVD.nl/EEF1A2" "" "1" "3192" "1917" "602959" "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/EEF1A2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-06-11 10:59:02" "00000" "2026-02-05 16:53:03" ## 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}}" "00006879" "EEF1A2" "eukaryotic translation elongation factor 1 alpha 2" "001" "NM_001958.3" "" "NP_001949.1" "" "" "" "-329" "1678" "1392" "62130668" "62119365" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "04458" "DEE33" "encephalopathy, developmental and epileptic, type 33" "AD" "616409" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2024-02-02 17:33:40" "04459" "MRD38" "mental retardation, autosomal dominant, type 38 (MRD-38)" "AD" "616393" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "EEF1A2" "04458" "EEF1A2" "04459" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00183076" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "F" "" "Netherlands" "" "0" "" "" "" "23033978-Trio91" "00239789" "" "" "" "1" "" "03318" "" "" "M" "no" "China" "03y" "0" "" "" "" "XYHF4P1" "00269540" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "M" "" "Italy" "" "0" "" "" "" "" "00296405" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00301263" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "M" "" "Italy" "" "" "" "" "" "" "00302989" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat34" "00302990" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat35" "00427812" "" "" "" "1" "" "00006" "{PMID:Veeramah 2013:23647072}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "PatB" "00440408" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED0047.1" "00447938" "" "" "" "1" "" "00006" "{PMID:Ostrander 2018:30109124}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat6" "00467612" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00468844" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00183076" "00139" "00239789" "04458" "00269540" "00344" "00296405" "00198" "00301263" "00841" "00302989" "05521" "00302990" "05521" "00427812" "00344" "00440408" "00198" "00447938" "00841" "00467612" "05611" "00468844" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00344, 00841, 04458, 04459, 05521, 05611 ## Count = 12 "{{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/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000143829" "00139" "00183076" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000179999" "04458" "00239789" "03318" "Isolated (sporadic)" "03y" "" "" "" "" "" "" "" "" "" "" "encephalopathy, epileptic, early infantile, type 33" "Lennox-Gastaut syndrome" "" "0000207371" "00344" "00269540" "03512" "Unknown" "" "Epileptic encephalopathy (HP:0200134)" "" "" "" "" "" "" "" "" "" "" "" "" "0000223819" "00198" "00296405" "01807" "Unknown" "" "Autism (HP:0000717); Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "" "0000228533" "00841" "00301263" "03512" "Unknown" "" "" "" "" "" "" "" "yes" "" "" "" "" "" "" "0000230072" "05521" "00302989" "00006" "Isolated (sporadic)" "" "Epileptic Encephalopathy, Lennox-Gastaut syndrome; age onset childhood" "" "" "" "" "" "" "" "" "" "" "seizures" "" "0000230073" "05521" "00302990" "00006" "Isolated (sporadic)" "" "Focal epilepsy, temporal lobe epilepsy; age onset infantile" "" "" "" "" "" "" "" "" "" "" "seizures" "" "0000318786" "00344" "00427812" "00006" "Isolated (sporadic)" "14y" "gestational diabetes (insulin), hypertension; birth at term, C-section; seizures multifocal myoclonic, generalized myoclonic; 8m-infantile spasms, responsive to pyridoxine, 3y-myoclonic, 4y-myoclonic/tonic, later atonic, generalized tonic-clonic, now refractory; EEG multifocal sharp waves, generalized spike-wave to hypsarrhythmia to pattern of Lennox-Gastaut syndrome (multifocal spikes, runs of slow spike-wave, generalized spike-wave bursts and periods of diffuse supression); epileptic encephalopathy, acquired microcephaly (<2nd percentile); severe delay with episodic regression; nonverbal, limited comprehension; hypotonia, with increased ankle tone; incoordination, gait instability" "00y00m70d" "" "" "" "" "" "" "" "" "" "West syndrome" "" "0000330318" "00198" "00440408" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Early infantile epileptic encephalopathy-33 (MIM #616409)" "" "" "0000337131" "00841" "00447938" "00006" "Isolated (sporadic)" "" "see paper; ..., global developmental delay, dysphagia, quadriparetic spastic cerebral palsy; seizure types migrating partial seizures, myoclonic, flexor spasm; EEG Generalized and multifocal spike wave discharges; MRI brain normal" "<1m" "" "" "" "" "" "" "" "" "DEE33" "early infantile epileptic encephalopathy" "" "0000352823" "05611" "00467612" "03544" "Isolated (sporadic)" "" "HP:0001249, HP:0001250, HP:0001263, HP:0031491" "" "" "" "" "" "" "" "" "" "EEF1A2-related NDD" "" "" "0000353997" "00198" "00468844" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184036" "00183076" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000240892" "00239789" "1" "03318" "03318" "2019-06-09 18:23:52" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" "" "0000270694" "00269540" "1" "03512" "03512" "2019-11-29 12:23:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000297516" "00296405" "1" "01807" "01807" "2020-04-06 09:48:31" "" "" "SEQ" "DNA" "" "" "0000302387" "00301263" "1" "03512" "03512" "2020-05-11 20:51:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000304114" "00302989" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000304115" "00302990" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000429135" "00427812" "1" "00006" "00006" "2022-12-13 13:34:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000441893" "00440408" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449509" "00447938" "1" "00006" "00006" "2024-02-02 18:50:24" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WGS" "0000469277" "00467612" "1" "03544" "03544" "2025-10-24 10:05:02" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000470512" "00468844" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000240892" "EEF1A2" "0000304114" "EEF1A2" "0000304115" "EEF1A2" ## 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 = 56 "{{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}}" "0000248726" "0" "10" "20" "62126185" "62126185" "subst" "0.561967" "02325" "EEF1A2_000008" "g.62126185A>G" "" "" "" "EEF1A2(NM_001958.5):c.594T>C (p.G198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63494832A>G" "" "benign" "" "0000267765" "0" "30" "20" "62119777" "62119777" "subst" "0.00232431" "02325" "EEF1A2_000001" "g.62119777G>T" "" "" "" "EEF1A2(NM_001958.3):c.1266C>A (p.G422=), EEF1A2(NM_001958.5):c.1266C>A (p.G422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63488424G>T" "" "likely benign" "" "0000267766" "0" "10" "20" "62126299" "62126299" "subst" "0.138252" "02325" "EEF1A2_000003" "g.62126299C>T" "" "" "" "EEF1A2(NM_001958.5):c.480G>A (p.P160=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63494946C>T" "" "benign" "" "0000275913" "0" "30" "20" "62120467" "62120467" "subst" "0" "01943" "EEF1A2_000002" "g.62120467G>A" "" "" "" "EEF1A2(NM_001958.3):c.1068C>T (p.G356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63489114G>A" "" "likely benign" "" "0000275914" "0" "30" "20" "62126462" "62126462" "subst" "2.13014E-5" "01943" "EEF1A2_000004" "g.62126462G>A" "" "" "" "EEF1A2(NM_001958.3):c.325-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63495109G>A" "" "likely benign" "" "0000338532" "0" "10" "20" "62121820" "62121820" "subst" "0.0305259" "02327" "EEF1A2_000007" "g.62121820G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63490467G>A" "" "benign" "" "0000338533" "0" "10" "20" "62130403" "62130403" "subst" "0" "02327" "EEF1A2_000011" "g.62130403G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63499050G>T" "" "benign" "" "0000338534" "0" "10" "20" "62130469" "62130469" "subst" "0" "02327" "EEF1A2_000012" "g.62130469C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63499116C>T" "" "benign" "" "0000340335" "0" "10" "20" "62126185" "62126185" "subst" "0.561967" "02327" "EEF1A2_000008" "g.62126185A>G" "" "" "" "EEF1A2(NM_001958.5):c.594T>C (p.G198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63494832A>G" "" "benign" "" "0000340336" "0" "10" "20" "62127326" "62127326" "subst" "0.0681717" "02327" "EEF1A2_000010" "g.62127326G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63495973G>A" "" "benign" "" "0000341012" "0" "10" "20" "62119747" "62119747" "subst" "0.002949" "02327" "EEF1A2_000006" "g.62119747C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63488394C>T" "" "benign" "" "0000345093" "0" "50" "20" "62126409" "62126409" "subst" "0" "02327" "EEF1A2_000009" "g.62126409C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63495056C>T" "" "VUS" "" "0000348220" "0" "10" "20" "62126299" "62126299" "subst" "0.138252" "02327" "EEF1A2_000003" "g.62126299C>T" "" "" "" "EEF1A2(NM_001958.5):c.480G>A (p.P160=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63494946C>T" "" "benign" "" "0000407974" "0" "70" "20" "62127325" "62127325" "subst" "0" "00006" "EEF1A2_000013" "g.62127325C>T" "" "{PMID:de Ligt 2012:23033978}" "" "NM_001958.2:c.208G>A (Gly70Ser)" "candidate variant" "De novo" "" "" "0" "" "" "g.63495972C>T" "" "likely pathogenic" "" "0000486675" "0" "70" "20" "62127241" "62127241" "subst" "0" "03318" "EEF1A2_000014" "g.62127241A>G" "-" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.63495888A>G" "" "pathogenic" "" "0000570287" "0" "10" "20" "62119777" "62119777" "subst" "0.00232431" "01943" "EEF1A2_000001" "g.62119777G>T" "" "" "" "EEF1A2(NM_001958.3):c.1266C>A (p.G422=), EEF1A2(NM_001958.5):c.1266C>A (p.G422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63488424G>T" "" "benign" "" "0000570288" "0" "10" "20" "62120272" "62120272" "subst" "0.00118669" "01943" "EEF1A2_000015" "g.62120272G>A" "" "" "" "EEF1A2(NM_001958.3):c.1263C>T (p.L421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63488919G>A" "" "benign" "" "0000570289" "0" "50" "20" "62120451" "62120451" "subst" "0" "02327" "EEF1A2_000016" "g.62120451C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63489098C>G" "" "VUS" "" "0000570290" "0" "30" "20" "62124548" "62124548" "subst" "0.000102283" "02326" "EEF1A2_000017" "g.62124548G>C" "" "" "" "EEF1A2(NM_001958.3):c.714C>G (p.P238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63493195G>C" "" "likely benign" "" "0000604482" "0" "50" "20" "62126283" "62126283" "subst" "0" "03512" "EEF1A2_000018" "g.62126283G>A" "" "{PMID:Minardi 2020:32725632}" "" "" "mother and brother wild type, father unavailable" "Germline/De novo (untested)" "" "" "0" "" "" "g.63494930G>A" "" "VUS" "" "0000618284" "0" "50" "20" "62121972" "62121972" "subst" "0" "01943" "EEF1A2_000019" "g.62121972C>T" "" "" "" "EEF1A2(NM_001958.3):c.889G>A (p.E297K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63490619C>T" "" "VUS" "" "0000618285" "0" "50" "20" "62124490" "62124490" "subst" "0" "02327" "EEF1A2_000020" "g.62124490C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63493137C>T" "" "VUS" "" "0000618286" "0" "50" "20" "62126421" "62126421" "subst" "0" "02327" "EEF1A2_000021" "g.62126421C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63495068C>T" "" "VUS" "" "0000660118" "0" "70" "20" "62121973" "62121973" "subst" "0" "01807" "EEF1A2_000022" "g.62121973G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.63490620G>T" "" "likely pathogenic" "" "0000665620" "0" "50" "20" "62126283" "62126283" "subst" "0" "03512" "EEF1A2_000018" "g.62126283G>A" "" "{PMID:Minardi 2020:32725632}" "" "" "mother and brother wt" "Germline" "" "" "0" "" "" "g.63494930G>A" "" "VUS" "" "0000667512" "0" "90" "20" "62127325" "62127325" "subst" "0" "00006" "EEF1A2_000013" "g.62127325C>T" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.63495972C>T" "" "pathogenic (dominant)" "ACMG" "0000667513" "0" "90" "20" "62122065" "62122065" "subst" "0" "00006" "EEF1A2_000023" "g.62122065G>A" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.63490712G>A" "" "pathogenic (dominant)" "ACMG" "0000681682" "0" "30" "20" "62122054" "62122054" "subst" "0.000141352" "02326" "EEF1A2_000024" "g.62122054G>A" "" "" "" "EEF1A2(NM_001958.3):c.807C>T (p.T269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681683" "0" "50" "20" "62124546" "62124546" "subst" "0" "02325" "EEF1A2_000025" "g.62124546G>A" "" "" "" "EEF1A2(NM_001958.5):c.716C>T (p.T239M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681684" "0" "30" "20" "62129024" "62129024" "subst" "2.44105E-5" "01943" "EEF1A2_000026" "g.62129024G>A" "" "" "" "EEF1A2(NM_001958.3):c.93C>T (p.C31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693019" "0" "30" "20" "62129063" "62129063" "subst" "8.9516E-5" "01943" "EEF1A2_000027" "g.62129063G>C" "" "" "" "EEF1A2(NM_001958.3):c.54C>G (p.S18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727843" "0" "90" "20" "62127262" "62127262" "subst" "0" "02327" "EEF1A2_000005" "g.62127262C>T" "" "" "" "EEF1A2(NM_001958.5):c.271G>A (p.D91N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727844" "0" "70" "20" "62127262" "62127262" "subst" "0" "02329" "EEF1A2_000005" "g.62127262C>T" "" "" "" "EEF1A2(NM_001958.5):c.271G>A (p.D91N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727845" "0" "90" "20" "62127325" "62127325" "subst" "0" "02329" "EEF1A2_000013" "g.62127325C>T" "" "" "" "EEF1A2(NM_001958.3):c.208G>A (p.(Gly70Ser)), EEF1A2(NM_001958.5):c.208G>A (p.G70S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727846" "0" "30" "20" "62129078" "62129078" "subst" "2.84907E-5" "01943" "EEF1A2_000028" "g.62129078G>A" "" "" "" "EEF1A2(NM_001958.3):c.39C>T (p.I13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895428" "0" "50" "20" "62119739" "62119739" "subst" "0" "02327" "EEF1A2_000029" "g.62119739A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908557" "0" "90" "20" "62127325" "62127325" "subst" "0" "00006" "EEF1A2_000013" "g.62127325C>T" "" "{PMID:Veeramah 2013:23647072}" "" "G208A" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000915429" "0" "70" "20" "62121919" "62121919" "subst" "0" "02327" "EEF1A2_000030" "g.62121919G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000915430" "0" "90" "20" "62127325" "62127325" "subst" "0" "02327" "EEF1A2_000013" "g.62127325C>T" "" "" "" "EEF1A2(NM_001958.3):c.208G>A (p.(Gly70Ser)), EEF1A2(NM_001958.5):c.208G>A (p.G70S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931204" "0" "90" "20" "62126415" "62126415" "subst" "0" "02327" "EEF1A2_000031" "g.62126415C>T" "" "" "" "EEF1A2(NM_001958.5):c.364G>A (p.E122K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931205" "0" "90" "20" "62126415" "62126415" "subst" "0" "02325" "EEF1A2_000031" "g.62126415C>T" "" "" "" "EEF1A2(NM_001958.5):c.364G>A (p.E122K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000939835" "0" "70" "20" "62126409" "62126409" "subst" "0" "00006" "EEF1A2_000009" "g.62126409C>T" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.63495056C>T" "" "likely pathogenic (dominant)" "" "0000959727" "0" "90" "20" "62119776" "62119776" "subst" "0" "00006" "EEF1A2_000032" "g.62119776G>A" "" "{PMID:Ostrander 2018:30109124}" "" "" "ACMG PS1, PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.63488423G>A" "" "pathogenic (dominant)" "ACMG" "0000983918" "0" "30" "20" "62114937" "62114937" "subst" "0" "01804" "EEF1A2_000036" "g.62114937C>T" "" "" "" "EEF1A2(NM_001958.5):c.*4714G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983919" "0" "30" "20" "62120264" "62120264" "subst" "0" "01804" "EEF1A2_000037" "g.62120264G>A" "" "" "" "EEF1A2(NM_001958.5):c.1264+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983920" "0" "30" "20" "62126870" "62126870" "del" "0" "01804" "EEF1A2_000038" "g.62126870del" "" "" "" "EEF1A2(NM_001958.5):c.324+340del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005564" "0" "50" "20" "62120472" "62120472" "subst" "0" "01804" "EEF1A2_000039" "g.62120472C>A" "" "" "" "EEF1A2(NM_001958.3):c.1063G>T (p.(Ala355Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005565" "0" "50" "20" "62126417" "62126417" "subst" "0" "02327" "EEF1A2_000040" "g.62126417C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005566" "0" "90" "20" "62127325" "62127325" "subst" "0" "01804" "EEF1A2_000013" "g.62127325C>T" "" "" "" "EEF1A2(NM_001958.3):c.208G>A (p.(Gly70Ser)), EEF1A2(NM_001958.5):c.208G>A (p.G70S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001043517" "0" "50" "20" "62124171" "62124172" "ins" "0" "01804" "EEF1A2_000041" "g.62124171_62124172insGGGA" "" "" "" "EEF1A2(NM_001958.5):c.772+321_772+322insCTCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043518" "0" "70" "20" "62126282" "62126282" "subst" "0" "02327" "EEF1A2_000042" "g.62126282C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001043519" "0" "30" "20" "62126292" "62126292" "subst" "4.071E-6" "01804" "EEF1A2_000043" "g.62126292T>C" "" "" "" "EEF1A2(NM_001958.5):c.487A>G (p.(Ser163Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049539" "0" "70" "20" "62127247" "62127247" "subst" "0" "03544" "EEF1A2_000044" "g.62127247G>A" "" "" "" "" "" "Germline" "-" "rs865888375" "0" "" "" "g.63495894G>A" "{CV:2664000}" "likely pathogenic" "ACMG" "0001058634" "0" "70" "20" "62119776" "62119776" "subst" "0" "00006" "EEF1A2_000032" "g.62119776G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.63488423G>A" "" "likely pathogenic" "" "0001067379" "0" "50" "20" "62120490" "62120490" "subst" "0" "02325" "EEF1A2_000045" "g.62120490G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001068130" "0" "50" "20" "62119776" "62119776" "subst" "0" "03779" "EEF1A2_000046" "g.62119776G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "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 EEF1A2 ## Count = 56 "{{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}}" "0000248726" "00006879" "10" "594" "0" "594" "0" "c.594T>C" "r.(?)" "p.(Gly198=)" "" "0000267765" "00006879" "30" "1266" "0" "1266" "0" "c.1266C>A" "r.(?)" "p.(Gly422=)" "" "0000267766" "00006879" "10" "480" "0" "480" "0" "c.480G>A" "r.(?)" "p.(Pro160=)" "" "0000275913" "00006879" "30" "1068" "0" "1068" "0" "c.1068C>T" "r.(?)" "p.(Gly356=)" "" "0000275914" "00006879" "30" "325" "-8" "325" "-8" "c.325-8C>T" "r.(=)" "p.(=)" "" "0000338532" "00006879" "10" "1029" "12" "1029" "12" "c.1029+12C>T" "r.(=)" "p.(=)" "" "0000338533" "00006879" "10" "-72" "8" "-72" "8" "c.-72+8C>A" "r.(=)" "p.(=)" "" "0000338534" "00006879" "10" "-130" "0" "-130" "0" "c.-130G>A" "r.(?)" "p.(=)" "" "0000340335" "00006879" "10" "594" "0" "594" "0" "c.594T>C" "r.(?)" "p.(Gly198=)" "" "0000340336" "00006879" "10" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Arg69=)" "" "0000341012" "00006879" "10" "1296" "0" "1296" "0" "c.1296G>A" "r.(?)" "p.(Thr432=)" "" "0000345093" "00006879" "50" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Glu124Lys)" "" "0000348220" "00006879" "10" "480" "0" "480" "0" "c.480G>A" "r.(?)" "p.(Pro160=)" "" "0000407974" "00006879" "00" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Gly70Ser)" "" "0000486675" "00006879" "70" "292" "0" "292" "0" "c.292T>C" "r.(?)" "p.(Phe98Leu)" "" "0000570287" "00006879" "10" "1266" "0" "1266" "0" "c.1266C>A" "r.(?)" "p.(Gly422=)" "" "0000570288" "00006879" "10" "1263" "0" "1263" "0" "c.1263C>T" "r.(?)" "p.(Leu421=)" "" "0000570289" "00006879" "50" "1084" "0" "1084" "0" "c.1084G>C" "r.(?)" "p.(Asp362His)" "" "0000570290" "00006879" "30" "714" "0" "714" "0" "c.714C>G" "r.(?)" "p.(Pro238=)" "" "0000604482" "00006879" "50" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Arg166Cys)" "" "0000618284" "00006879" "50" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Glu297Lys)" "" "0000618285" "00006879" "50" "772" "0" "772" "0" "c.772G>A" "r.(?)" "p.(Gly258Ser)" "" "0000618286" "00006879" "50" "358" "0" "358" "0" "c.358G>A" "r.(?)" "p.(Val120Met)" "" "0000660118" "00006879" "70" "888" "0" "888" "0" "c.888C>A" "r.(?)" "p.(His296Gln)" "" "0000665620" "00006879" "50" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Arg166Cys)" "" "0000667512" "00006879" "90" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Gly70Ser)" "" "0000667513" "00006879" "90" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266Trp)" "" "0000681682" "00006879" "30" "807" "0" "807" "0" "c.807C>T" "r.(?)" "p.(Thr269=)" "" "0000681683" "00006879" "50" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "" "0000681684" "00006879" "30" "93" "0" "93" "0" "c.93C>T" "r.(?)" "p.(Cys31=)" "" "0000693019" "00006879" "30" "54" "0" "54" "0" "c.54C>G" "r.(?)" "p.(Ser18=)" "" "0000727843" "00006879" "90" "271" "0" "271" "0" "c.271G>A" "r.(?)" "p.(Asp91Asn)" "" "0000727844" "00006879" "70" "271" "0" "271" "0" "c.271G>A" "r.(?)" "p.(Asp91Asn)" "" "0000727845" "00006879" "90" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Gly70Ser)" "" "0000727846" "00006879" "30" "39" "0" "39" "0" "c.39C>T" "r.(?)" "p.(Ile13=)" "" "0000895428" "00006879" "50" "1304" "0" "1304" "0" "c.1304T>C" "r.(?)" "p.(Val435Ala)" "" "0000908557" "00006879" "90" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Gly70Ser)" "" "0000915429" "00006879" "70" "942" "0" "942" "0" "c.942C>A" "r.(?)" "p.(Asn314Lys)" "" "0000915430" "00006879" "90" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Gly70Ser)" "" "0000931204" "00006879" "90" "364" "0" "364" "0" "c.364G>A" "r.(?)" "p.(Glu122Lys)" "" "0000931205" "00006879" "90" "364" "0" "364" "0" "c.364G>A" "r.(?)" "p.(Glu122Lys)" "" "0000939835" "00006879" "70" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Glu124Lys)" "4" "0000959727" "00006879" "90" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Arg423Cys)" "" "0000983918" "00006879" "30" "6106" "0" "6106" "0" "c.*4714G>A" "r.(=)" "p.(=)" "" "0000983919" "00006879" "30" "1264" "7" "1264" "7" "c.1264+7C>T" "r.(=)" "p.(=)" "" "0000983920" "00006879" "30" "324" "340" "324" "340" "c.324+340del" "r.(=)" "p.(=)" "" "0001005564" "00006879" "50" "1063" "0" "1063" "0" "c.1063G>T" "r.(?)" "p.(Ala355Ser)" "" "0001005565" "00006879" "50" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Gly121Asp)" "" "0001005566" "00006879" "90" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Gly70Ser)" "" "0001043517" "00006879" "50" "772" "321" "772" "322" "c.772+321_772+322insCTCC" "r.(=)" "p.(=)" "" "0001043518" "00006879" "70" "497" "0" "497" "0" "c.497G>A" "r.(?)" "p.(Arg166His)" "" "0001043519" "00006879" "30" "487" "0" "487" "0" "c.487A>G" "r.(?)" "p.(Ser163Gly)" "" "0001049539" "00006879" "70" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Arg96Cys)" "3" "0001058634" "00006879" "70" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Arg423Cys)" "" "0001067379" "00006879" "50" "1045" "0" "1045" "0" "c.1045C>T" "r.(?)" "p.(His349Tyr)" "" "0001068130" "00006879" "50" "1267" "0" "1267" "0" "c.1267C>G" "r.(?)" "p.(Arg423Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000184036" "0000407974" "0000240892" "0000486675" "0000270694" "0000604482" "0000297516" "0000660118" "0000302387" "0000665620" "0000304114" "0000667512" "0000304115" "0000667513" "0000429135" "0000908557" "0000441893" "0000939835" "0000449509" "0000959727" "0000469277" "0001049539" "0000470512" "0001058634"