### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EIF2AK1) # 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}}" "EIF2AK1" "eukaryotic translation initiation factor 2-alpha kinase 1" "7" "p22" "unknown" "NC_000007.13" "UD_132438271542" "" "https://www.LOVD.nl/EIF2AK1" "" "1" "24921" "27102" "613635" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/EIF2AK1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-04-04 18:16:42" "00000" "2026-01-20 18:57:21" ## 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}}" "00006964" "EIF2AK1" "transcript variant 1" "002" "NM_014413.3" "" "NP_055228.2" "" "" "" "-146" "4319" "1893" "6098860" "6061878" "" "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" "06775" "LEMSPAD" "?Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome" "" "618878" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "EIF2AK1" "06775" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00296281" "" "" "" "1" "" "00006" "{PMID:Mao 2020:32197074}, {DOI:Mao 2020:10.1016/j.ajhg.2020.02.016}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Ireland;Germany" "" "0" "" "" "" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00296281" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 06775 ## Count = 1 "{{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}}" "0000223756" "00198" "00296281" "00006" "Isolated (sporadic)" "6y" "OFC 51.5 cm (Z=1.0); no neurologic regression with febrile illness reported; urinary and fecal urgency, slow finger tapping movements; dysarthria; ambulatory; no gait ataxia; no truncal ataxia; no hypotonia; hypertonia lower extremities; hyperreflexia lower extremities; spasticity lower extremities; no dystonia; no tremor; no myoclonus; no choreathetosis; no hemiballismus; bradykinesia; no seizures; no dysmorphisms; 21m-spasticity and toewalking; MRI brain 3y, no cerebral volume loss, T1W signal isointense, T2W signal hyperintensity, posterior lateral ventricles, contrast enhancement, no diffusion restriction, no hypomyelination/abnormal myelination, no thinning of the corpus callosum, no vermis volume loss, periventricular gliosis" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000297453" "00296281" "1" "00006" "00006" "2020-04-05 10:21:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000297453" "EIF2AK1" ## 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 = 78 "{{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}}" "0000255688" "0" "90" "7" "6045521" "6045521" "subst" "0" "01943" "PMS2_000206" "g.6045521A>G" "" "" "" "PMS2(NM_000535.5):c.163+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6005890A>G" "" "pathogenic" "" "0000294022" "0" "50" "7" "6045534" "6045534" "subst" "0" "02330" "PMS2_000422" "g.6045534G>A" "" "" "" "PMS2(NM_000535.7):c.152C>T (p.A51V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6005903G>A" "" "VUS" "" "0000294039" "0" "30" "7" "6048630" "6048630" "subst" "4.07448E-6" "02330" "PMS2_000424" "g.6048630C>G" "" "" "" "PMS2(NM_000535.7):c.21G>C (p.S7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6008999C>G" "" "likely benign" "" "0000294040" "0" "10" "7" "6048618" "6048618" "subst" "0.00180061" "02330" "PMS2_000340" "g.6048618C>G" "" "" "" "PMS2(NM_000535.5):c.23+10G>C (p.(=)), PMS2(NM_000535.7):c.23+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6008987C>G" "" "benign" "" "0000294046" "0" "10" "7" "6045634" "6045634" "subst" "0.00906087" "02330" "PMS2_000009" "g.6045634T>C" "" "" "" "PMS2(NM_000535.5):c.52A>G (p.(Ile18Val), p.Ile18Val, p.I18V), PMS2(NM_000535.7):c.52A>G (p.I18V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6006003T>C" "" "benign" "" "0000294047" "0" "10" "7" "6045627" "6045627" "subst" "0.0717514" "02330" "PMS2_000008" "g.6045627C>T" "" "" "" "PMS2(NM_000535.5):c.59G>A (p.R20Q, p.Arg20Gln), PMS2(NM_000535.7):c.59G>A (p.R20Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6005996C>T" "" "benign" "" "0000297162" "0" "30" "7" "6048618" "6048618" "subst" "0.00180061" "02325" "PMS2_000340" "g.6048618C>G" "" "" "" "PMS2(NM_000535.5):c.23+10G>C (p.(=)), PMS2(NM_000535.7):c.23+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6008987C>G" "" "likely benign" "" "0000297168" "0" "10" "7" "6045634" "6045634" "subst" "0.00906087" "02325" "PMS2_000009" "g.6045634T>C" "" "" "" "PMS2(NM_000535.5):c.52A>G (p.(Ile18Val), p.Ile18Val, p.I18V), PMS2(NM_000535.7):c.52A>G (p.I18V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6006003T>C" "" "benign" "" "0000297169" "0" "10" "7" "6045627" "6045627" "subst" "0.0717514" "02325" "PMS2_000008" "g.6045627C>T" "" "" "" "PMS2(NM_000535.5):c.59G>A (p.R20Q, p.Arg20Gln), PMS2(NM_000535.7):c.59G>A (p.R20Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6005996C>T" "" "benign" "" "0000298952" "0" "30" "7" "6048618" "6048618" "subst" "0.00180061" "02329" "PMS2_000340" "g.6048618C>G" "" "" "" "PMS2(NM_000535.5):c.23+10G>C (p.(=)), PMS2(NM_000535.7):c.23+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6008987C>G" "" "likely benign" "" "0000298955" "0" "10" "7" "6045634" "6045634" "subst" "0.00906087" "02329" "PMS2_000009" "g.6045634T>C" "" "" "" "PMS2(NM_000535.5):c.52A>G (p.(Ile18Val), p.Ile18Val, p.I18V), PMS2(NM_000535.7):c.52A>G (p.I18V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6006003T>C" "" "benign" "" "0000301069" "0" "30" "7" "6048618" "6048618" "subst" "0.00180061" "02326" "PMS2_000340" "g.6048618C>G" "" "" "" "PMS2(NM_000535.5):c.23+10G>C (p.(=)), PMS2(NM_000535.7):c.23+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6008987C>G" "" "likely benign" "" "0000301070" "0" "30" "7" "6045634" "6045634" "subst" "0.00906087" "02326" "PMS2_000009" "g.6045634T>C" "" "" "" "PMS2(NM_000535.5):c.52A>G (p.(Ile18Val), p.Ile18Val, p.I18V), PMS2(NM_000535.7):c.52A>G (p.I18V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6006003T>C" "" "likely benign" "" "0000301071" "0" "30" "7" "6045627" "6045627" "subst" "0.0717514" "02326" "PMS2_000008" "g.6045627C>T" "" "" "" "PMS2(NM_000535.5):c.59G>A (p.R20Q, p.Arg20Gln), PMS2(NM_000535.7):c.59G>A (p.R20Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6005996C>T" "" "likely benign" "" "0000302434" "0" "10" "7" "6048556" "6048556" "subst" "0" "02369" "PMS2_000423" "g.6048556G>A" "" "" "" "PMS2(NM_000535.5):c.23+72C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6008925G>A" "" "benign" "" "0000302435" "0" "10" "7" "6045627" "6045627" "subst" "0.0717514" "02369" "PMS2_000008" "g.6045627C>T" "" "" "" "PMS2(NM_000535.5):c.59G>A (p.R20Q, p.Arg20Gln), PMS2(NM_000535.7):c.59G>A (p.R20Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6005996C>T" "" "benign" "" "0000305977" "0" "70" "7" "6045549" "6045549" "subst" "0.000158059" "01943" "PMS2_000061" "g.6045549C>A" "" "" "" "PMS2(NM_000535.5):c.137G>T (p.S46I, p.(Ser46Ile)), PMS2(NM_000535.7):c.137G>T (p.S46I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6005918C>A" "" "likely pathogenic" "" "0000305992" "0" "10" "7" "6045627" "6045627" "subst" "0.0717514" "01943" "PMS2_000008" "g.6045627C>T" "" "" "" "PMS2(NM_000535.5):c.59G>A (p.R20Q, p.Arg20Gln), PMS2(NM_000535.7):c.59G>A (p.R20Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6005996C>T" "" "benign" "" "0000331414" "0" "10" "7" "6048618" "6048618" "subst" "0.00180061" "01804" "PMS2_000340" "g.6048618C>G" "" "" "" "PMS2(NM_000535.5):c.23+10G>C (p.(=)), PMS2(NM_000535.7):c.23+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6008987C>G" "" "benign" "" "0000331417" "0" "50" "7" "6080865" "6080866" "del" "0" "01804" "EIF2AK1_000002" "g.6080865_6080866del" "" "" "" "EIF2AK1(NM_001134335.1):c.789-5_789-4del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6041234_6041235del" "" "VUS" "" "0000331418" "0" "50" "7" "6080866" "6080866" "del" "0" "01804" "EIF2AK1_000003" "g.6080866del" "" "" "" "EIF2AK1(NM_001134335.1):c.789-5del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6041235del" "" "VUS" "" "0000331419" "0" "50" "7" "6094254" "6094254" "subst" "0" "01804" "EIF2AK1_000004" "g.6094254A>T" "" "" "" "EIF2AK1(NM_001134335.1):c.200T>A (p.(Leu67His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6054623A>T" "" "VUS" "" "0000338471" "0" "90" "7" "6045521" "6045521" "subst" "0" "02327" "PMS2_000206" "g.6045521A>G" "" "" "" "PMS2(NM_000535.5):c.163+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6005890A>G" "" "pathogenic" "" "0000342231" "0" "10" "7" "6045627" "6045627" "subst" "0.0717514" "02327" "PMS2_000008" "g.6045627C>T" "" "" "" "PMS2(NM_000535.5):c.59G>A (p.R20Q, p.Arg20Gln), PMS2(NM_000535.7):c.59G>A (p.R20Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6005996C>T" "" "benign" "" "0000347769" "0" "90" "7" "6048650" "6048650" "subst" "2.44602E-5" "02327" "PMS2_000256" "g.6048650T>C" "" "" "" "PMS2(NM_000535.7):c.1A>G (p.M1?), PMS2(NM_001322014.1):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6009019T>C" "" "pathogenic" "" "0000349035" "0" "70" "7" "6045549" "6045549" "subst" "0.000158059" "02327" "PMS2_000061" "g.6045549C>A" "" "" "" "PMS2(NM_000535.5):c.137G>T (p.S46I, p.(Ser46Ile)), PMS2(NM_000535.7):c.137G>T (p.S46I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6005918C>A" "" "likely pathogenic" "" "0000349553" "0" "30" "7" "6045532" "6045532" "subst" "0" "02327" "PMS2_000442" "g.6045532T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6005901T>G" "" "likely benign" "" "0000351303" "0" "10" "7" "6045634" "6045634" "subst" "0.00906087" "02327" "PMS2_000009" "g.6045634T>C" "" "" "" "PMS2(NM_000535.5):c.52A>G (p.(Ile18Val), p.Ile18Val, p.I18V), PMS2(NM_000535.7):c.52A>G (p.I18V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6006003T>C" "" "benign" "" "0000532414" "0" "90" "7" "6045549" "6045549" "subst" "0.000158059" "01804" "PMS2_000061" "g.6045549C>A" "" "" "" "PMS2(NM_000535.5):c.137G>T (p.S46I, p.(Ser46Ile)), PMS2(NM_000535.7):c.137G>T (p.S46I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6005918C>A" "" "pathogenic" "" "0000532415" "0" "30" "7" "6045634" "6045634" "subst" "0.00906087" "01804" "PMS2_000009" "g.6045634T>C" "" "" "" "PMS2(NM_000535.5):c.52A>G (p.(Ile18Val), p.Ile18Val, p.I18V), PMS2(NM_000535.7):c.52A>G (p.I18V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6006003T>C" "" "likely benign" "" "0000532416" "0" "10" "7" "6045634" "6045634" "subst" "0.00906087" "02369" "PMS2_000009" "g.6045634T>C" "" "" "" "PMS2(NM_000535.5):c.52A>G (p.(Ile18Val), p.Ile18Val, p.I18V), PMS2(NM_000535.7):c.52A>G (p.I18V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6006003T>C" "" "benign" "" "0000532417" "0" "30" "7" "6045655" "6045655" "subst" "0" "02327" "AIMP2_000001" "g.6045655G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6006024G>C" "" "likely benign" "" "0000532418" "0" "30" "7" "6048618" "6048618" "subst" "0.00180061" "02369" "PMS2_000340" "g.6048618C>G" "" "" "" "PMS2(NM_000535.5):c.23+10G>C (p.(=)), PMS2(NM_000535.7):c.23+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6008987C>G" "" "likely benign" "" "0000532419" "0" "70" "7" "6048649" "6048649" "subst" "8.15255E-6" "02325" "PMS2_000017" "g.6048649A>T" "" "" "" "PMS2(NM_000535.7):c.2T>A (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6009018A>T" "" "likely pathogenic" "" "0000532420" "0" "50" "7" "6094343" "6094343" "subst" "0" "01804" "AIMP2_000002" "g.6094343T>C" "" "" "" "EIF2AK1(NM_014413.3):c.119-8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6054712T>C" "" "VUS" "" "0000611165" "0" "70" "7" "6045519" "6045519" "subst" "0" "02327" "AIMP2_000003" "g.6045519T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6005888T>C" "" "likely pathogenic" "" "0000611166" "0" "90" "7" "6045549" "6045549" "subst" "0.000158059" "02330" "PMS2_000061" "g.6045549C>A" "" "" "" "PMS2(NM_000535.5):c.137G>T (p.S46I, p.(Ser46Ile)), PMS2(NM_000535.7):c.137G>T (p.S46I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6005918C>A" "" "pathogenic" "" "0000611167" "0" "30" "7" "6045633" "6045633" "subst" "0.00036209" "02330" "PMS2_000295" "g.6045633A>G" "" "" "" "PMS2(NM_000535.7):c.53T>C (p.I18T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6006002A>G" "" "likely benign" "" "0000611168" "0" "30" "7" "6048582" "6048582" "subst" "8.15727E-6" "02369" "AIMP2_000004" "g.6048582G>A" "" "" "" "PMS2(NM_000535.5):c.23+46C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6008951G>A" "" "likely benign" "" "0000611169" "0" "30" "7" "6048693" "6048693" "subst" "4.09051E-6" "02327" "AIMP2_000005" "g.6048693T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6009062T>C" "" "likely benign" "" "0000611170" "0" "50" "7" "6054965" "6054965" "subst" "0" "01943" "AIMP2_000006" "g.6054965G>T" "" "" "" "AIMP2(NM_001326609.1):c.90G>T (p.L30F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6015334G>T" "" "VUS" "" "0000611171" "0" "30" "7" "6057632" "6057632" "subst" "0" "01943" "AIMP2_000007" "g.6057632C>G" "" "" "" "AIMP2(NM_001326609.1):c.296C>G (p.P99R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6018001C>G" "" "likely benign" "" "0000660083" "0" "90" "7" "6068654" "6068654" "subst" "0" "00006" "EIF2AK1_000005" "g.6068654T>C" "" "{PMID:Mao 2020:32197074}, {DOI:Mao 2020:10.1016/j.ajhg.2020.02.016}" "" "" "" "De novo" "" "" "0" "" "" "g.6029023T>C" "" "pathogenic (dominant)" "" "0000690044" "0" "90" "7" "6045522" "6045522" "subst" "0" "02327" "AIMP2_000010" "g.6045522C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690045" "0" "30" "7" "6045653" "6045653" "subst" "4.16507E-6" "02327" "AIMP2_000011" "g.6045653A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690046" "0" "30" "7" "6048618" "6048618" "subst" "0.00180061" "02327" "PMS2_000340" "g.6048618C>G" "" "" "" "PMS2(NM_000535.5):c.23+10G>C (p.(=)), PMS2(NM_000535.7):c.23+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690047" "0" "30" "7" "6054834" "6054834" "subst" "0.000483209" "01943" "AIMP2_000012" "g.6054834C>T" "" "" "" "AIMP2(NM_001362785.1):c.106C>T (p.R36C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690048" "0" "30" "7" "6075264" "6075264" "subst" "0" "01943" "AIMP2_000013" "g.6075264A>C" "" "" "" "ANKRD61(NM_001271700.1):c.504A>C (p.K168N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721518" "0" "50" "7" "6048650" "6048650" "subst" "2.44602E-5" "01943" "PMS2_000256" "g.6048650T>C" "" "" "" "PMS2(NM_000535.7):c.1A>G (p.M1?), PMS2(NM_001322014.1):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803217" "0" "10" "7" "6048743" "6048743" "subst" "0.00564986" "02327" "AIMP2_000014" "g.6048743C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851649" "0" "50" "7" "6066574" "6066574" "subst" "1.6246E-5" "02325" "AIMP2_000016" "g.6066574C>G" "" "" "" "EIF2AK1(NM_014413.4):c.1549G>C (p.G517R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860879" "0" "50" "7" "6045585" "6045585" "subst" "4.57544E-5" "01804" "PMS2_000977" "g.6045585C>A" "" "" "" "PMS2(NM_000535.5):c.101G>T (p.(Ser34Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860880" "0" "70" "7" "6048627" "6048627" "subst" "0" "01804" "AIMP2_000015" "g.6048627C>G" "" "" "" "PMS2(NM_000535.5):c.23+1G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887952" "0" "90" "7" "6045549" "6045549" "subst" "0.000158059" "02325" "PMS2_000061" "g.6045549C>A" "" "" "" "PMS2(NM_000535.5):c.137G>T (p.S46I, p.(Ser46Ile)), PMS2(NM_000535.7):c.137G>T (p.S46I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887953" "0" "90" "7" "6045549" "6045549" "subst" "0.000158059" "02326" "PMS2_000061" "g.6045549C>A" "" "" "" "PMS2(NM_000535.5):c.137G>T (p.S46I, p.(Ser46Ile)), PMS2(NM_000535.7):c.137G>T (p.S46I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887954" "0" "50" "7" "6045600" "6045600" "subst" "0.000598977" "02325" "PMS2_000370" "g.6045600C>G" "" "" "" "PMS2(NM_000535.7):c.86G>C (p.G29A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887955" "0" "90" "7" "6048649" "6048649" "subst" "8.15255E-6" "02327" "PMS2_000017" "g.6048649A>T" "" "" "" "PMS2(NM_000535.7):c.2T>A (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912782" "0" "50" "7" "6048629" "6048629" "subst" "0" "02327" "AIMP2_000017" "g.6048629T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912783" "0" "10" "7" "6048743" "6048743" "subst" "0.00310064" "02327" "PMS2_000448" "g.6048743C>G" "" "" "" "PMS2(NM_000535.7):c.-93G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924746" "0" "30" "7" "6094177" "6094177" "subst" "0.000231551" "02325" "AIMP2_000018" "g.6094177G>A" "" "" "" "EIF2AK1(NM_014413.4):c.277C>T (p.L93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929366" "0" "30" "7" "6045600" "6045600" "subst" "0.000598977" "02327" "PMS2_000370" "g.6045600C>G" "" "" "" "PMS2(NM_000535.7):c.86G>C (p.G29A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948941" "0" "10" "7" "6048703" "6048703" "subst" "0.00177453" "02327" "PMS2_000375" "g.6048703C>T" "" "" "" "PMS2(NM_000535.5):c.-53G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964643" "0" "30" "7" "6045666" "6045666" "subst" "0" "02327" "AIMP2_000019" "g.6045666G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977796" "0" "50" "7" "6077078" "6077078" "subst" "0" "01804" "AIMP2_000020" "g.6077078C>G" "" "" "" "EIF2AK1(NM_014413.4):c.1309G>C (p.(Gly437Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977797" "0" "30" "7" "6078213" "6078213" "subst" "0" "01804" "AIMP2_000021" "g.6078213C>A" "" "" "" "EIF2AK1(NM_014413.4):c.1209G>T (p.(Arg403=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996611" "0" "90" "7" "6045626" "6045674" "del" "0" "01804" "AIMP2_000022" "g.6045626_6045674del" "" "" "" "PMS2(NM_000535.5):c.24-12_60del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000996612" "0" "50" "7" "6045628" "6045628" "subst" "4.99413E-5" "01804" "PMS2_000983" "g.6045628G>A" "" "" "" "PMS2(NM_000535.5):c.58C>T (p.(Arg20Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996613" "0" "70" "7" "6048650" "6048650" "subst" "2.44602E-5" "02325" "PMS2_000256" "g.6048650T>C" "" "" "" "PMS2(NM_000535.7):c.1A>G (p.M1?), PMS2(NM_001322014.1):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000996614" "0" "30" "7" "6064384" "6064384" "subst" "2.68013E-5" "01804" "AIMP2_000023" "g.6064384C>T" "" "" "" "EIF2AK1(NM_014413.3):c.1813G>A (p.(Ala605Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996615" "0" "50" "7" "6078221" "6078221" "subst" "0.000179887" "01804" "AIMP2_000024" "g.6078221G>A" "" "" "" "EIF2AK1(NM_014413.3):c.1201C>T (p.(Arg401Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025422" "0" "50" "7" "6063273" "6063273" "subst" "0" "02325" "AIMP2_000025" "g.6063273C>T" "" "" "" "EIF2AK1(NM_014413.4):c.*1031G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036471" "0" "50" "7" "6045633" "6045633" "subst" "0.00036209" "02329" "PMS2_000295" "g.6045633A>G" "" "" "" "PMS2(NM_000535.7):c.53T>C (p.I18T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036472" "0" "30" "7" "6054991" "6054991" "subst" "0.000186863" "01804" "AIMP2_000026" "g.6054991C>T" "" "" "" "AIMP2(NM_006303.4):c.342+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046125" "0" "90" "7" "6045521" "6045521" "subst" "0" "01804" "PMS2_000206" "g.6045521A>G" "" "" "" "PMS2(NM_000535.5):c.163+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001052600" "0" "30" "7" "6048743" "6048743" "subst" "0.00310064" "02369" "PMS2_000448" "g.6048743C>G" "" "" "" "PMS2(NM_000535.7):c.-93G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052601" "0" "50" "7" "6080777" "6080777" "subst" "0" "01804" "AIMP2_000027" "g.6080777C>A" "" "" "" "EIF2AK1(NM_014413.4):c.865G>T (p.(Glu289*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064689" "0" "10" "7" "6045934" "6045934" "subst" "0" "02327" "AIMP2_000028" "g.6045934T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001064690" "0" "30" "7" "6048703" "6048703" "subst" "0.00177453" "01804" "PMS2_000375" "g.6048703C>T" "" "" "" "PMS2(NM_000535.5):c.-53G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 EIF2AK1 ## Count = 78 "{{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}}" "0000255688" "00006964" "90" "20676" "0" "20676" "0" "c.*18783T>C" "r.(=)" "p.(=)" "" "0000294022" "00006964" "50" "20663" "0" "20663" "0" "c.*18770C>T" "r.(=)" "p.(=)" "" "0000294039" "00006964" "30" "17567" "0" "17567" "0" "c.*15674G>C" "r.(=)" "p.(=)" "" "0000294040" "00006964" "10" "17579" "0" "17579" "0" "c.*15686G>C" "r.(=)" "p.(=)" "" "0000294046" "00006964" "10" "20563" "0" "20563" "0" "c.*18670A>G" "r.(=)" "p.(=)" "" "0000294047" "00006964" "10" "20570" "0" "20570" "0" "c.*18677G>A" "r.(=)" "p.(=)" "" "0000297162" "00006964" "30" "17579" "0" "17579" "0" "c.*15686G>C" "r.(=)" "p.(=)" "" "0000297168" "00006964" "10" "20563" "0" "20563" "0" "c.*18670A>G" "r.(=)" "p.(=)" "" "0000297169" "00006964" "10" "20570" "0" "20570" "0" "c.*18677G>A" "r.(=)" "p.(=)" "" "0000298952" "00006964" "30" "17579" "0" "17579" "0" "c.*15686G>C" "r.(=)" "p.(=)" "" "0000298955" "00006964" "10" "20563" "0" "20563" "0" "c.*18670A>G" "r.(=)" "p.(=)" "" "0000301069" "00006964" "30" "17579" "0" "17579" "0" "c.*15686G>C" "r.(=)" "p.(=)" "" "0000301070" "00006964" "30" "20563" "0" "20563" "0" "c.*18670A>G" "r.(=)" "p.(=)" "" "0000301071" "00006964" "30" "20570" "0" "20570" "0" "c.*18677G>A" "r.(=)" "p.(=)" "" "0000302434" "00006964" "10" "17641" "0" "17641" "0" "c.*15748C>T" "r.(=)" "p.(=)" "" "0000302435" "00006964" "10" "20570" "0" "20570" "0" "c.*18677G>A" "r.(=)" "p.(=)" "" "0000305977" "00006964" "70" "20648" "0" "20648" "0" "c.*18755G>T" "r.(=)" "p.(=)" "" "0000305992" "00006964" "10" "20570" "0" "20570" "0" "c.*18677G>A" "r.(=)" "p.(=)" "" "0000331414" "00006964" "10" "17579" "0" "17579" "0" "c.*15686G>C" "r.(=)" "p.(=)" "" "0000331417" "00006964" "50" "792" "-5" "792" "-4" "c.792-5_792-4del" "r.spl?" "p.?" "" "0000331418" "00006964" "50" "792" "-4" "792" "-4" "c.792-4del" "r.spl?" "p.?" "" "0000331419" "00006964" "50" "200" "0" "200" "0" "c.200T>A" "r.(?)" "p.(Leu67His)" "" "0000338471" "00006964" "90" "20676" "0" "20676" "0" "c.*18783T>C" "r.(=)" "p.(=)" "" "0000342231" "00006964" "10" "20570" "0" "20570" "0" "c.*18677G>A" "r.(=)" "p.(=)" "" "0000347769" "00006964" "90" "17547" "0" "17547" "0" "c.*15654A>G" "r.(=)" "p.(=)" "" "0000349035" "00006964" "70" "20648" "0" "20648" "0" "c.*18755G>T" "r.(=)" "p.(=)" "" "0000349553" "00006964" "30" "20665" "0" "20665" "0" "c.*18772A>C" "r.(=)" "p.(=)" "" "0000351303" "00006964" "10" "20563" "0" "20563" "0" "c.*18670A>G" "r.(=)" "p.(=)" "" "0000532414" "00006964" "90" "20648" "0" "20648" "0" "c.*18755G>T" "r.(=)" "p.(=)" "" "0000532415" "00006964" "30" "20563" "0" "20563" "0" "c.*18670A>G" "r.(=)" "p.(=)" "" "0000532416" "00006964" "10" "20563" "0" "20563" "0" "c.*18670A>G" "r.(=)" "p.(=)" "" "0000532417" "00006964" "30" "20542" "0" "20542" "0" "c.*18649C>G" "r.(=)" "p.(=)" "" "0000532418" "00006964" "30" "17579" "0" "17579" "0" "c.*15686G>C" "r.(=)" "p.(=)" "" "0000532419" "00006964" "70" "17548" "0" "17548" "0" "c.*15655T>A" "r.(=)" "p.(=)" "" "0000532420" "00006964" "50" "119" "-8" "119" "-8" "c.119-8A>G" "r.(=)" "p.(=)" "" "0000611165" "00006964" "70" "20678" "0" "20678" "0" "c.*18785A>G" "r.(=)" "p.(=)" "" "0000611166" "00006964" "90" "20648" "0" "20648" "0" "c.*18755G>T" "r.(=)" "p.(=)" "" "0000611167" "00006964" "30" "20564" "0" "20564" "0" "c.*18671T>C" "r.(=)" "p.(=)" "" "0000611168" "00006964" "30" "17615" "0" "17615" "0" "c.*15722C>T" "r.(=)" "p.(=)" "" "0000611169" "00006964" "30" "17504" "0" "17504" "0" "c.*15611A>G" "r.(=)" "p.(=)" "" "0000611170" "00006964" "50" "11232" "0" "11232" "0" "c.*9339C>A" "r.(=)" "p.(=)" "" "0000611171" "00006964" "30" "8565" "0" "8565" "0" "c.*6672G>C" "r.(=)" "p.(=)" "" "0000660083" "00006964" "90" "1342" "0" "1342" "0" "c.1342A>G" "r.(?)" "p.(Ile448Val)" "" "0000690044" "00006964" "90" "20675" "0" "20675" "0" "c.*18782G>A" "r.(=)" "p.(=)" "" "0000690045" "00006964" "30" "20544" "0" "20544" "0" "c.*18651T>A" "r.(=)" "p.(=)" "" "0000690046" "00006964" "30" "17579" "0" "17579" "0" "c.*15686G>C" "r.(=)" "p.(=)" "" "0000690047" "00006964" "30" "11363" "0" "11363" "0" "c.*9470G>A" "r.(=)" "p.(=)" "" "0000690048" "00006964" "30" "1332" "1791" "1332" "1791" "c.1332+1791T>G" "r.(=)" "p.(=)" "" "0000721518" "00006964" "50" "17547" "0" "17547" "0" "c.*15654A>G" "r.(=)" "p.(=)" "" "0000803217" "00006964" "10" "17454" "0" "17454" "0" "c.*15561G>T" "r.(=)" "p.(=)" "" "0000851649" "00006964" "50" "1549" "0" "1549" "0" "c.1549G>C" "r.(?)" "p.(Gly517Arg)" "" "0000860879" "00006964" "50" "20612" "0" "20612" "0" "c.*18719G>T" "r.(=)" "p.(=)" "" "0000860880" "00006964" "70" "17570" "0" "17570" "0" "c.*15677G>C" "r.(=)" "p.(=)" "" "0000887952" "00006964" "90" "20648" "0" "20648" "0" "c.*18755G>T" "r.(=)" "p.(=)" "" "0000887953" "00006964" "90" "20648" "0" "20648" "0" "c.*18755G>T" "r.(=)" "p.(=)" "" "0000887954" "00006964" "50" "20597" "0" "20597" "0" "c.*18704G>C" "r.(=)" "p.(=)" "" "0000887955" "00006964" "90" "17548" "0" "17548" "0" "c.*15655T>A" "r.(=)" "p.(=)" "" "0000912782" "00006964" "50" "17568" "0" "17568" "0" "c.*15675A>C" "r.(=)" "p.(=)" "" "0000912783" "00006964" "10" "17454" "0" "17454" "0" "c.*15561G>C" "r.(=)" "p.(=)" "" "0000924746" "00006964" "30" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Leu93=)" "" "0000929366" "00006964" "30" "20597" "0" "20597" "0" "c.*18704G>C" "r.(=)" "p.(=)" "" "0000948941" "00006964" "10" "17494" "0" "17494" "0" "c.*15601G>A" "r.(=)" "p.(=)" "" "0000964643" "00006964" "30" "20531" "0" "20531" "0" "c.*18638C>T" "r.(=)" "p.(=)" "" "0000977796" "00006964" "50" "1309" "0" "1309" "0" "c.1309G>C" "r.(?)" "p.(Gly437Arg)" "" "0000977797" "00006964" "30" "1209" "0" "1209" "0" "c.1209G>T" "r.(?)" "p.(=)" "" "0000996611" "00006964" "90" "20523" "0" "20571" "0" "c.*18630_*18678del" "r.(=)" "p.(=)" "" "0000996612" "00006964" "50" "20569" "0" "20569" "0" "c.*18676C>T" "r.(=)" "p.(=)" "" "0000996613" "00006964" "70" "17547" "0" "17547" "0" "c.*15654A>G" "r.(=)" "p.(=)" "" "0000996614" "00006964" "30" "1813" "0" "1813" "0" "c.1813G>A" "r.(?)" "p.(Ala605Thr)" "" "0000996615" "00006964" "50" "1201" "0" "1201" "0" "c.1201C>T" "r.(?)" "p.(Arg401Trp)" "" "0001025422" "00006964" "50" "2924" "0" "2924" "0" "c.*1031G>A" "r.(=)" "p.(=)" "" "0001036471" "00006964" "50" "20564" "0" "20564" "0" "c.*18671T>C" "r.(=)" "p.(=)" "" "0001036472" "00006964" "30" "11206" "0" "11206" "0" "c.*9313G>A" "r.(=)" "p.(=)" "" "0001046125" "00006964" "90" "20676" "0" "20676" "0" "c.*18783T>C" "r.(=)" "p.(=)" "" "0001052600" "00006964" "30" "17454" "0" "17454" "0" "c.*15561G>C" "r.(=)" "p.(=)" "" "0001052601" "00006964" "50" "865" "0" "865" "0" "c.865G>T" "r.(?)" "p.(Glu289*)" "" "0001064689" "00006964" "10" "20263" "0" "20263" "0" "c.*18370A>G" "r.(=)" "p.(=)" "" "0001064690" "00006964" "30" "17494" "0" "17494" "0" "c.*15601G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000297453" "0000660083"