### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = YARS) # 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}}" "YARS" "tyrosyl-tRNA synthetase" "1" "p35.1" "unknown" "LRG_273" "UD_132118568873" "" "http://www.LOVD.nl/YARS" "" "1" "12840" "8565" "603623" "1" "1" "1" "1" "This database is one of the gene variant databases from the: \r\nVariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB." "" "g" "http://databases.lovd.nl/shared/refseq/YARS_codingDNA.html" "1" "" "This database is one of the gene variant databases from the:" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2016-12-02 12:08:47" "00006" "2025-03-31 12:00:32" ## 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}}" "00022954" "YARS" "tyrosyl-tRNA synthetase" "001" "NM_003680.3" "" "NP_003671.1" "" "" "" "-788" "2329" "1587" "33283633" "33240840" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "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" "02751" "CMTDIC" "Charcot-Marie-Tooth disease, dominant intermediate, type C (CMTDIC)" "AD" "608323" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "YARS" "02751" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00037436" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037437" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037438" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037439" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037440" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037441" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037442" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00089189" "" "" "" "1" "" "00006" "{PMID:Hyun 2015:24354524}" "3-generation family, affected male" "M" "no" "Korea" "" "0" "" "" "" "" "00089192" "" "" "" "2" "" "00006" "{PMID:Jordanova 2006:16429158}" "family" "" "no" "United States" "" "0" "" "" "" "" "00089193" "" "" "" "1" "" "00006" "{PMID:Jordanova 2006:16429158}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Belgium" "" "0" "" "" "" "" "00089194" "" "" "" "2" "" "00006" "{PMID:Jordanova 2006:16429158}" "family" "" "no" "Bulgaria" "" "0" "" "" "" "" "00289818" "" "" "" "24" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295945" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00387895" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, second cousin parents" "" "yes" "" "" "0" "" "" "Azeri" "M9000141" "00464554" "" "" "" "1" "" "04333" "" "" "M" "yes" "Israel" "" "" "" "" "Muslim Arab" "" "00464555" "" "" "" "1" "" "04333" "" "" "F" "yes" "Israel" "" "" "" "" "Muslim Arab" "" "00464556" "" "" "" "1" "" "04333" "" "" "M" "yes" "Israel" "" "" "" "" "Muslim Arab" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00089189" "02751" "00089192" "02751" "00089193" "02751" "00089194" "02751" "00289818" "00198" "00295945" "00198" "00387895" "00139" "00464554" "05086" "00464555" "00112" "00464555" "05086" "00464556" "00112" "00464556" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00139, 00198, 02751, 05086 ## Count = 6 "{{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}}" "0000068579" "02751" "00089189" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000068581" "02751" "00089192" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000068582" "02751" "00089193" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000068583" "02751" "00089194" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000223421" "00198" "00295945" "01164" "Unknown" "" "Pes cavus (HP:0001761); Hammertoe (HP:0001765); Sensorimotor neuropathy (HP:0007141)" "" "" "" "" "" "" "" "" "" "" "" "0000281463" "00139" "00387895" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly (SD-9.5)" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037506" "00037436" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037507" "00037437" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037508" "00037438" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037509" "00037439" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037510" "00037440" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037511" "00037441" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037512" "00037442" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000089335" "00089189" "1" "00006" "00006" "2016-12-02 12:11:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000089337" "00089192" "1" "00006" "00006" "2012-11-07 13:45:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000089338" "00089193" "1" "00006" "00006" "2012-11-07 13:45:39" "" "" "SEQ" "DNA" "" "" "0000089339" "00089194" "1" "00006" "00006" "2012-11-07 13:45:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000290986" "00289818" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297117" "00295945" "1" "01164" "01164" "2020-03-30 10:44:57" "" "" "SEQ-NG-S" "DNA" "" "" "0000389126" "00387895" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466194" "00464554" "1" "04333" "04333" "2025-03-27 13:00:02" "" "" "SEQ" "DNA" "" "" "0000466195" "00464555" "1" "04333" "04333" "2025-03-27 13:03:40" "" "" "SEQ-NG" "DNA" "" "" "0000466196" "00464556" "1" "04333" "04333" "2025-03-27 13:05:53" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000037506" "YARS" "0000037507" "YARS" "0000037508" "YARS" "0000037509" "YARS" "0000037510" "YARS" "0000037511" "YARS" "0000037512" "YARS" "0000089335" "YARS" "0000089337" "YARS" "0000089338" "YARS" "0000089339" "YARS" "0000389126" "YARS" ## 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 = 58 "{{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}}" "0000064631" "1" "10" "1" "33252887" "33252887" "subst" "0" "01164" "YARS_000005" "g.33252887T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32787286T>C" "" "benign" "" "0000064632" "1" "10" "1" "33252116" "33252138" "del" "0" "01164" "YARS_000006" "g.33252116_33252138del" "" "" "" "" "" "Germline" "" "rs3831936" "0" "" "" "g.32786515_32786537del" "" "benign" "" "0000064633" "1" "10" "1" "33256884" "33256884" "subst" "0.312016" "01164" "YARS_000007" "g.33256884C>A" "" "" "" "" "" "Germline" "" "rs1765223" "0" "" "" "g.32791283C>A" "" "benign" "" "0000064634" "1" "10" "1" "33276424" "33276424" "subst" "0" "01164" "YARS_000008" "g.33276424G>A" "" "" "" "" "" "Germline" "" "rs4951787" "0" "" "" "g.32810823G>A" "" "benign" "" "0000064635" "1" "10" "1" "33245802" "33245802" "subst" "0.104112" "01164" "YARS_000009" "g.33245802C>G" "" "" "" "" "" "Germline" "" "rs699005" "0" "" "" "g.32780201C>G" "" "benign" "" "0000064636" "1" "10" "1" "33282775" "33282775" "subst" "0.103632" "01164" "YARS_000010" "g.33282775C>A" "" "" "" "" "" "Germline" "" "rs72654020" "0" "" "" "g.32817174C>A" "" "benign" "" "0000064637" "1" "10" "1" "33252436" "33252436" "subst" "0" "01164" "YARS_000011" "g.33252436G>T" "" "" "" "" "" "Germline" "" "rs41265863" "0" "" "" "g.32786835G>T" "" "benign" "" "0000147273" "0" "70" "1" "33276330" "33276331" "delins" "0" "00006" "YARS_000004" "g.33276330_33276331delinsAT" "" "{PMID:Hyun 2015:24354524}, {OMIM603623:0004}" "" "241_242GA>AT" "" "Germline" "" "rs786204003" "0" "" "" "g.32810729_32810730delinsAT" "" "likely pathogenic" "" "0000147275" "1" "90" "1" "33276595" "33276595" "subst" "0" "00006" "YARS_000001" "g.33276595C>T" "" "{PMID:Jordanova 2006:16429158}, {OMIM603623:0001}" "" "" "not in 622 control chromosomes" "Germline" "yes" "rs121908833" "0" "" "" "g.32810994C>T" "" "pathogenic" "" "0000147276" "0" "90" "1" "33272130" "33272141" "del" "0" "00006" "YARS_000002" "g.33272130_33272141del" "" "{PMID:Jordanova 2006:16429158}, {OMIM603623:0003}" "" "458_469del12" "" "De novo" "-" "rs786200893" "0" "" "" "g.32806529_32806540del" "" "pathogenic" "" "0000147277" "1" "90" "1" "33263369" "33263369" "subst" "0" "00006" "YARS_000003" "g.33263369C>T" "" "{PMID:Jordanova 2006:16429158}, {OMIM603623:0002}" "" "" "not in 622 control chromosomes" "Germline" "yes" "rs121908834" "0" "" "" "g.32797768C>T" "" "pathogenic" "" "0000295222" "0" "10" "1" "33283528" "33283528" "subst" "0" "02330" "S100PBP_000001" "g.33283528G>A" "" "" "" "S100PBP(NM_022753.4):c.-120+238G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32817927G>A" "" "benign" "" "0000295223" "0" "10" "1" "33283583" "33283583" "subst" "0" "02330" "S100PBP_000002" "g.33283583G>C" "" "" "" "S100PBP(NM_022753.4):c.-120+293G>C, YARS1(NM_003680.4):c.-738C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32817982G>C" "" "benign" "" "0000311425" "0" "10" "1" "33248032" "33248032" "subst" "0.00279863" "02330" "YARS_000012" "g.33248032C>T" "" "" "" "YARS1(NM_003680.3):c.1015G>A (p.A339T), YARS1(NM_003680.4):c.1015G>A (p.A339T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32782431C>T" "" "benign" "" "0000311426" "0" "10" "1" "33245802" "33245802" "subst" "0.104112" "02330" "YARS_000009" "g.33245802C>G" "" "" "" "YARS1(NM_003680.4):c.1218G>C (p.L406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32780201C>G" "" "benign" "" "0000311427" "0" "90" "1" "33276595" "33276595" "subst" "0" "02330" "YARS_000001" "g.33276595C>T" "" "" "" "YARS1(NM_003680.4):c.121G>A (p.G41R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32810994C>T" "" "pathogenic" "" "0000311428" "0" "50" "1" "33276594" "33276594" "subst" "0" "02330" "YARS_000014" "g.33276594C>T" "" "" "" "YARS1(NM_003680.4):c.122G>A (p.G41E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32810993C>T" "" "VUS" "" "0000311429" "0" "10" "1" "33282775" "33282775" "subst" "0.103632" "02330" "YARS_000010" "g.33282775C>A" "" "" "" "YARS1(NM_003680.4):c.57+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32817174C>A" "" "benign" "" "0000311430" "0" "90" "1" "33263369" "33263369" "subst" "0" "02330" "YARS_000003" "g.33263369C>T" "" "" "" "YARS1(NM_003680.4):c.586G>A (p.E196K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32797768C>T" "" "pathogenic" "" "0000311431" "0" "10" "1" "33256884" "33256884" "subst" "0.312016" "02330" "YARS_000007" "g.33256884C>A" "" "" "" "YARS1(NM_003680.4):c.592-29G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32791283C>A" "" "benign" "" "0000315517" "0" "10" "1" "33248032" "33248032" "subst" "0.00279863" "02326" "YARS_000012" "g.33248032C>T" "" "" "" "YARS1(NM_003680.3):c.1015G>A (p.A339T), YARS1(NM_003680.4):c.1015G>A (p.A339T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32782431C>T" "" "benign" "" "0000320722" "0" "50" "1" "33236630" "33236630" "subst" "1.63192E-5" "01804" "KIAA1522_000001" "g.33236630C>T" "" "" "" "KIAA1522(NM_001198973.1):c.410-1836C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32771029C>T" "" "VUS" "" "0000320723" "0" "50" "1" "33237607" "33237607" "subst" "0.000165132" "01804" "KIAA1522_000002" "g.33237607G>A" "" "" "" "KIAA1522(NM_001198972.1):c.2650G>A (p.(Ala884Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32772006G>A" "" "VUS" "" "0000320724" "0" "50" "1" "33276309" "33276309" "subst" "0" "01804" "YARS_000013" "g.33276309T>C" "" "" "" "YARS(NM_003680.3):c.263A>G (p.(Glu88Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32810708T>C" "" "VUS" "" "0000349612" "0" "50" "1" "33276363" "33276363" "subst" "2.03047E-5" "02327" "YARS_000015" "g.33276363G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32810762G>A" "" "VUS" "" "0000507115" "0" "30" "1" "33236550" "33236550" "dup" "0" "01804" "KIAA1522_000003" "g.33236550dup" "" "" "" "KIAA1522(NM_001198972.1):c.1593dup (p.(Pro532SerfsTer22))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32770949dup" "" "likely benign" "" "0000507122" "0" "30" "1" "33237885" "33237885" "subst" "0" "01943" "KIAA1522_000010" "g.33237885A>C" "" "" "" "KIAA1522(NM_020888.3):c.3105A>C (p.P1035=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32772284A>C" "" "likely benign" "" "0000507123" "0" "30" "1" "33237892" "33237892" "subst" "0" "01804" "KIAA1522_000011" "g.33237892T>C" "" "" "" "KIAA1522(NM_001198972.1):c.2935T>C (p.(Ser979Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32772291T>C" "" "likely benign" "" "0000507124" "0" "30" "1" "33237898" "33237902" "del" "0" "01804" "KIAA1522_000012" "g.33237898_33237902del" "" "" "" "KIAA1522(NM_001198972.1):c.2941_2945del (p.(Ser981ProfsTer4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32772297_32772301del" "" "likely benign" "" "0000507125" "0" "50" "1" "33245771" "33245771" "subst" "0" "02330" "S100PBP_000003" "g.33245771C>T" "" "" "" "YARS1(NM_003680.4):c.1249G>A (p.D417N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32780170C>T" "" "VUS" "" "0000507126" "0" "30" "1" "33247985" "33247985" "subst" "3.25267E-5" "02330" "S100PBP_000004" "g.33247985C>T" "" "" "" "YARS1(NM_003680.4):c.1042+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32782384C>T" "" "likely benign" "" "0000507127" "0" "50" "1" "33248074" "33248074" "subst" "1.21819E-5" "01943" "S100PBP_000005" "g.33248074G>A" "" "" "" "YARS(NM_003680.3):c.973C>T (p.R325W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32782473G>A" "" "VUS" "" "0000507128" "0" "30" "1" "33256858" "33256858" "subst" "0" "01943" "S100PBP_000006" "g.33256858G>A" "" "" "" "YARS(NM_003680.3):c.592-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32791257G>A" "" "likely benign" "" "0000507129" "0" "30" "1" "33272202" "33272202" "subst" "2.43669E-5" "02330" "S100PBP_000007" "g.33272202G>A" "" "" "" "YARS1(NM_003680.4):c.391C>T (p.L131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32806601G>A" "" "likely benign" "" "0000507139" "0" "10" "1" "33282794" "33282794" "subst" "0.000422575" "02330" "S100PBP_000008" "g.33282794G>A" "" "" "" "YARS1(NM_003680.3):c.52C>T (p.L18=), YARS1(NM_003680.4):c.52C>T (p.L18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32817193G>A" "" "benign" "" "0000605683" "0" "30" "1" "33236550" "33236551" "ins" "0" "01804" "KIAA1522_000015" "g.33236550_33236551insG" "" "" "" "KIAA1522(NM_001198972.1):c.1593_1594insG (p.(Pro532AlafsTer22))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32770949_32770950insG" "" "likely benign" "" "0000605686" "0" "50" "1" "33246689" "33246689" "subst" "4.46817E-5" "02327" "S100PBP_000009" "g.33246689C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32781088C>T" "" "VUS" "" "0000605687" "0" "30" "1" "33252687" "33252687" "subst" "1.62533E-5" "02326" "S100PBP_000010" "g.33252687T>C" "" "" "" "YARS1(NM_003680.3):c.685-11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32787086T>C" "" "likely benign" "" "0000605688" "0" "10" "1" "33276424" "33276424" "subst" "0" "02330" "YARS_000008" "g.33276424G>A" "" "" "" "YARS1(NM_003680.4):c.205-57C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32810823G>A" "" "benign" "" "0000620611" "0" "50" "1" "33282806" "33282806" "subst" "5.68773E-5" "02330" "S100PBP_000011" "g.33282806T>A" "" "" "" "YARS1(NM_003680.4):c.40A>T (p.I14F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32817205T>A" "" "VUS" "" "0000647675" "1" "30" "1" "33283287" "33283287" "subst" "0" "03575" "S100PBP_000012" "g.33283287G>A" "24/2781 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "24 heterozygous, no homozygous; {DB:CLININrs115959445}" "Germline" "" "rs115959445" "0" "" "" "g.32817686G>A" "" "likely benign" "" "0000659733" "0" "70" "1" "33276595" "33276595" "subst" "0" "01164" "YARS_000016" "g.33276595C>G" "" "" "" "" "ACMG grading: PS3,PM2,PP3; Jordanova et al. 2006. Nat Genet 38: 197; Storkebaum et al. 2009. Proc Natl Acad Sci USA 106: 11782" "Germline" "" "" "0" "" "" "g.32810994C>G" "" "likely pathogenic" "ACMG" "0000675817" "0" "30" "1" "33236322" "33236322" "subst" "0" "01943" "KIAA1522_000021" "g.33236322G>A" "" "" "" "KIAA1522(NM_020888.3):c.1542G>A (p.V514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675818" "0" "30" "1" "33248151" "33248151" "subst" "4.06256E-6" "02330" "S100PBP_000013" "g.33248151G>A" "" "" "" "YARS1(NM_003680.4):c.907-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688137" "0" "30" "1" "33235890" "33235890" "subst" "0.000252279" "01943" "KIAA1522_000022" "g.33235890C>T" "" "" "" "KIAA1522(NM_020888.3):c.1110C>T (p.G370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717435" "0" "50" "1" "33245099" "33245099" "subst" "0" "02329" "KIAA1522_000017" "g.33245099G>A" "" "" "" "YARS1(NM_003680.4):c.1360C>T (p.P454S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717436" "0" "50" "1" "33276346" "33276346" "subst" "0" "02330" "S100PBP_000014" "g.33276346G>A" "" "" "" "YARS1(NM_003680.4):c.226C>T (p.L76F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717437" "0" "50" "1" "33282806" "33282806" "subst" "5.68773E-5" "02329" "S100PBP_000011" "g.33282806T>A" "" "" "" "YARS1(NM_003680.4):c.40A>T (p.I14F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817919" "3" "70" "1" "33246690" "33246690" "subst" "4.0623E-5" "00006" "YARS_000017" "g.33246690G>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.32781089G>A" "" "likely pathogenic (recessive)" "ACMG" "0000911061" "0" "30" "1" "33282794" "33282794" "subst" "0.000422575" "02326" "S100PBP_000008" "g.33282794G>A" "" "" "" "YARS1(NM_003680.3):c.52C>T (p.L18=), YARS1(NM_003680.4):c.52C>T (p.L18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923170" "0" "30" "1" "33245085" "33245085" "subst" "0.000954571" "02326" "KIAA1522_000016" "g.33245085C>T" "" "" "" "YARS1(NM_003680.3):c.1374G>A (p.P458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947221" "0" "50" "1" "33245855" "33245855" "subst" "2.43706E-5" "02330" "S100PBP_000015" "g.33245855C>T" "" "" "" "YARS1(NM_003680.4):c.1165G>A (p.V389I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947223" "0" "50" "1" "33282806" "33282806" "subst" "5.68773E-5" "02327" "S100PBP_000011" "g.33282806T>A" "" "" "" "YARS1(NM_003680.4):c.40A>T (p.I14F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973888" "0" "50" "1" "33245723" "33245723" "subst" "0" "02327" "S100PBP_000017" "g.33245723C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973889" "0" "10" "1" "33246707" "33246707" "subst" "0.000662316" "02330" "S100PBP_000018" "g.33246707T>A" "" "" "" "YARS1(NM_003680.4):c.1082A>T (p.E361V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001030092" "3" "50" "1" "33252571" "33252571" "subst" "0" "04333" "YARS_000018" "g.33252571T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.32786970T>A" "" "VUS" "" "0001030093" "3" "50" "1" "33252571" "33252571" "subst" "0" "04333" "YARS_000018" "g.33252571T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32786970T>A" "" "VUS" "" "0001030094" "3" "50" "1" "33252571" "33252571" "subst" "0" "04333" "YARS_000018" "g.33252571T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32786970T>A" "" "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 YARS ## Count = 58 "{{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}}" "0000064631" "00022954" "10" "685" "-211" "685" "-211" "c.685-211A>G" "r.(?)" "p.(=)" "6i" "0000064632" "00022954" "10" "821" "-74" "821" "-52" "c.821-74_821-52del" "r.(?)" "p.(=)" "7i" "0000064633" "00022954" "10" "592" "-29" "592" "-29" "c.592-29G>T" "r.(?)" "p.(=)" "5i" "0000064634" "00022954" "10" "205" "-57" "205" "-57" "c.205-57C>T" "r.(?)" "p.(=)" "2i" "0000064635" "00022954" "10" "1218" "0" "1218" "0" "c.1218G>C" "r.(?)" "p.(=)" "11" "0000064636" "00022954" "10" "57" "14" "57" "14" "c.57+14G>T" "r.(?)" "p.(=)" "1i" "0000064637" "00022954" "10" "820" "105" "820" "105" "c.820+105C>A" "r.(?)" "p.(=)" "7i" "0000147273" "00022954" "70" "241" "0" "242" "0" "c.241_242delinsAT" "r.(?)" "p.(Asp81Ile)" "3" "0000147275" "00022954" "90" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Gly41Arg)" "2" "0000147276" "00022954" "90" "458" "0" "469" "0" "c.458_469del" "r.(?)" "p.(Val153_Val156del)" "4" "0000147277" "00022954" "90" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Glu196Lys)" "5" "0000295222" "00022954" "10" "-683" "0" "-683" "0" "c.-683C>T" "r.(?)" "p.(=)" "" "0000295223" "00022954" "10" "-738" "0" "-738" "0" "c.-738C>G" "r.(?)" "p.(=)" "" "0000311425" "00022954" "10" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Ala339Thr)" "" "0000311426" "00022954" "10" "1218" "0" "1218" "0" "c.1218G>C" "r.(?)" "p.(Leu406=)" "" "0000311427" "00022954" "90" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Gly41Arg)" "" "0000311428" "00022954" "50" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Gly41Glu)" "" "0000311429" "00022954" "10" "57" "14" "57" "14" "c.57+14G>T" "r.(=)" "p.(=)" "" "0000311430" "00022954" "90" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Glu196Lys)" "" "0000311431" "00022954" "10" "592" "-29" "592" "-29" "c.592-29G>T" "r.(=)" "p.(=)" "" "0000315517" "00022954" "10" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Ala339Thr)" "" "0000320722" "00022954" "50" "6539" "0" "6539" "0" "c.*4952G>A" "r.(=)" "p.(=)" "" "0000320723" "00022954" "50" "5562" "0" "5562" "0" "c.*3975C>T" "r.(=)" "p.(=)" "" "0000320724" "00022954" "50" "263" "0" "263" "0" "c.263A>G" "r.(?)" "p.(Glu88Gly)" "" "0000349612" "00022954" "50" "209" "0" "209" "0" "c.209C>T" "r.(?)" "p.(Thr70Ile)" "" "0000507115" "00022954" "30" "6619" "0" "6619" "0" "c.*5032dup" "r.(?)" "p.(=)" "" "0000507122" "00022954" "30" "5284" "0" "5284" "0" "c.*3697T>G" "r.(=)" "p.(=)" "" "0000507123" "00022954" "30" "5277" "0" "5277" "0" "c.*3690A>G" "r.(=)" "p.(=)" "" "0000507124" "00022954" "30" "5267" "0" "5271" "0" "c.*3680_*3684del" "r.(=)" "p.(=)" "" "0000507125" "00022954" "50" "1249" "0" "1249" "0" "c.1249G>A" "r.(?)" "p.(Asp417Asn)" "" "0000507126" "00022954" "30" "1042" "20" "1042" "20" "c.1042+20G>A" "r.(=)" "p.(=)" "" "0000507127" "00022954" "50" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Arg325Trp)" "" "0000507128" "00022954" "30" "592" "-3" "592" "-3" "c.592-3C>T" "r.spl?" "p.?" "" "0000507129" "00022954" "30" "391" "0" "391" "0" "c.391C>T" "r.(?)" "p.(Leu131=)" "" "0000507139" "00022954" "10" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Leu18=)" "" "0000605683" "00022954" "30" "6618" "0" "6619" "0" "c.*5031_*5032insC" "r.(=)" "p.(=)" "" "0000605686" "00022954" "50" "1100" "0" "1100" "0" "c.1100G>A" "r.(?)" "p.(Arg367Gln)" "" "0000605687" "00022954" "30" "685" "-11" "685" "-11" "c.685-11A>G" "r.(=)" "p.(=)" "" "0000605688" "00022954" "10" "205" "-57" "205" "-57" "c.205-57C>T" "r.(=)" "p.(=)" "" "0000620611" "00022954" "50" "40" "0" "40" "0" "c.40A>T" "r.(?)" "p.(Ile14Phe)" "" "0000647675" "00022954" "30" "-442" "0" "-442" "0" "c.-442C>T" "r.(=)" "p.(=)" "" "0000659733" "00022954" "70" "121" "0" "121" "0" "c.121G>C" "r.(?)" "p.(Gly41Arg)" "" "0000675817" "00022954" "30" "6847" "0" "6847" "0" "c.*5260C>T" "r.(=)" "p.(=)" "" "0000675818" "00022954" "30" "907" "-11" "907" "-11" "c.907-11C>T" "r.(=)" "p.(=)" "" "0000688137" "00022954" "30" "7279" "0" "7279" "0" "c.*5692G>A" "r.(=)" "p.(=)" "" "0000717435" "00022954" "50" "1360" "0" "1360" "0" "c.1360C>T" "r.(?)" "p.(Pro454Ser)" "" "0000717436" "00022954" "50" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Leu76Phe)" "" "0000717437" "00022954" "50" "40" "0" "40" "0" "c.40A>T" "r.(?)" "p.(Ile14Phe)" "" "0000817919" "00022954" "70" "1099" "0" "1099" "0" "c.1099C>T" "r.(?)" "p.(Arg367Trp)" "" "0000911061" "00022954" "30" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Leu18=)" "" "0000923170" "00022954" "30" "1374" "0" "1374" "0" "c.1374G>A" "r.(?)" "p.(Pro458=)" "" "0000947221" "00022954" "50" "1165" "0" "1165" "0" "c.1165G>A" "r.(?)" "p.(Val389Ile)" "" "0000947223" "00022954" "50" "40" "0" "40" "0" "c.40A>T" "r.(?)" "p.(Ile14Phe)" "" "0000973888" "00022954" "50" "1297" "0" "1297" "0" "c.1297G>A" "r.(?)" "p.(Gly433Arg)" "" "0000973889" "00022954" "10" "1082" "0" "1082" "0" "c.1082A>T" "r.(?)" "p.(Glu361Val)" "" "0001030092" "00022954" "50" "790" "0" "790" "0" "c.790A>T" "r.(?)" "p.(Ile264Phe)" "" "0001030093" "00022954" "50" "790" "0" "790" "0" "c.790A>T" "r.(?)" "p.(Ile264Phe)" "" "0001030094" "00022954" "50" "790" "0" "790" "0" "c.790A>T" "r.(?)" "p.(Ile264Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000037506" "0000064631" "0000037507" "0000064632" "0000037508" "0000064633" "0000037509" "0000064634" "0000037510" "0000064635" "0000037511" "0000064636" "0000037512" "0000064637" "0000089335" "0000147273" "0000089337" "0000147275" "0000089338" "0000147276" "0000089339" "0000147277" "0000290986" "0000647675" "0000297117" "0000659733" "0000389126" "0000817919" "0000466194" "0001030092" "0000466195" "0001030093" "0000466196" "0001030094"