### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = YARS2) # 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}}" "YARS2" "tyrosyl-tRNA synthetase 2, mitochondrial" "12" "p11.21" "unknown" "NG_028122.1" "UD_132118761428" "" "https://www.LOVD.nl/YARS2" "" "1" "24249" "51067" "610957" "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/YARS2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-03-19 12:44:22" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00022955" "YARS2" "tyrosyl-tRNA synthetase 2, mitochondrial" "001" "NM_001040436.2" "" "NP_001035526.1" "" "" "" "-79" "2094" "1434" "32908887" "32899478" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "02705" "RMD2;LGMD1C" "rippling muscle disease, type 2 (LGMD1C)" "AD" "607801" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-01-12 20:42:38" "03363" "MLASA2" "myopathy, lactic acidosis, and sideroblastic anemia, type 2 (MLASA2)" "AR" "613561" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-03-19 12:45:02" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "YARS2" "03363" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00037443" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037444" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037445" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037446" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00204192" "" "" "" "1" "" "01786" "" "" "" "" "Lebanon" "" "0" "" "" "Lebanese" "" "00204193" "" "" "" "1" "" "00000" "{PMID:Riley 2010:20598274}" "" "M" "yes" "Lebanon" "" "0" "" "" "Lebanese" "" "00204194" "" "" "" "1" "" "00000" "{PMID:Riley 2010:20598274}" "Sister of II:2" "F" "yes" "Lebanon" "" "0" "" "" "Lebanese" "" "00204195" "" "" "" "2" "" "00000" "{PMID:Riley 2010:20598274}" "parents of II:2 and II:3, the parents are first cousins" "?" "yes" "Lebanon" "" "0" "" "" "Lebanese" "" "00204196" "" "" "" "1" "" "00000" "{PMID:Riley 2010:20598274}" "A maternal aunt is said to have had transfusion-dependent sideroblastic anemia and a skeletal myopathy, but never had a muscle biopsy. Brothers & sisters are healthy" "F" "yes" "Lebanon" "" "0" "" "" "Lebanese" "" "00295479" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296589" "" "" "" "1" "" "00006" "{PMID:Kemp 2011:21169334}, {PMID:Taylor 2014:25058219}" "" "M" "yes" "Lebanon" "37y" "0" "" "" "" "Pat22" "00309878" "" "" "" "1" "" "03770" "{PMID:Zehravi 2021:33734897}" "" "M" "yes" "Pakistan" "" "0" "Yes" "No" "Asian" "Patient 1" "00310208" "" "" "" "1" "" "03770" "{PMID:Zehravi 2021:33734897}" "" "M" "yes" "Pakistan" "" "0" "Yes" "None" "Asian" "Patient 3" "00454651" "" "" "" "2" "" "00006" "{PMID:Ardissone 2016:25638461}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "no" "Italy" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00204192" "03363" "00204193" "03363" "00204194" "03363" "00204196" "03363" "00295479" "00198" "00296589" "00198" "00309878" "02705" "00310208" "02705" "00454651" "00244" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 02705, 03363 ## Count = 8 "{{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}}" "0000152698" "03363" "00204192" "01786" "Familial, autosomal recessive" "" "" "" "31y" "" "" "" "" "" "" "" "" "" "0000152699" "03363" "00204193" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000152700" "03363" "00204194" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000152701" "03363" "00204196" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223995" "00198" "00296589" "00006" "Familial, autosomal recessive" "37y" "deceased; muscle not affected; central nervous system not affected; heart not affected; liver not affected; Exercise intolerance, sideroblastic anaemia, lactic acidosis" "14y" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000235209" "02705" "00309878" "03770" "Isolated (sporadic)" "08y" "Proximal muscle weakness of lower limbs (HP:0008994), Toe walking (HP:0040083), Frequent falls (HP:0002527), Myalgia (HP:0003326), Gowers sign (HP:0003391), Hyperlordosis (HP:0003307), Calf muscle pseudohypertrophy (HP:0003707), Flexion contracture (HP:0001371), Elevated serum creatinine kinase (HP:0003236), EMG abnormality (HP:0003457)" "02y06m" "08y" "Proximal muscle weakness of lower limbs (HP:0008994)" "" "" "" "" "" "LGMD1C" "Dystrophinopathy" "" "0000235511" "02705" "00310208" "03770" "Isolated (sporadic)" "12y" "Muscle weakness (HP:0001324), Progressive muscle weakness (HP:0003323),Difficulty climbing stairs (HP:0003551), Difficulty walking (HP:0002355), Toe walking (HP:0040083), Frequent falls (HP:0002527), Myalgia (HP:0003326), Gowers sign (HP:0003391), Hyperlordosis (HP:0003307), Calf muscle pseudohypertrophy (HP:0003707), Flexion contracture (HP:0001371), Elevated serum creatinine kinase (HP:0003236), EMG abnormality (HP:0003457)" "05y" "12y" "Gowers sign (HP:0003391)" "" "" "" "" "" "LGMD1C" "DMD/ LGMD" "" "0000343289" "00244" "00454651" "00006" "Familial, autosomal recessive" "" "see paper; ..., anemia, lactic acidemia, required periodic blood transfusions; normal cognitive/motor development" "" "" "" "" "" "" "" "" "MLASA2" "complex III deficiency" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037513" "00037443" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037514" "00037444" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037515" "00037445" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037516" "00037446" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000205221" "00204192" "1" "01786" "01786" "2012-03-13 16:34:27" "" "" "SEQ" "DNA;RNA" "" "" "0000205222" "00204193" "1" "00000" "00115" "2010-08-16 11:43:49" "" "" "SEQ" "DNA" "" "" "0000205223" "00204194" "1" "00000" "00115" "2010-08-16 11:43:49" "" "" "SEQ" "DNA" "" "" "0000205224" "00204195" "1" "00000" "00115" "2010-08-16 11:43:49" "00006" "2012-03-14 20:01:04" "SEQ" "DNA" "" "" "0000205225" "00204196" "1" "00000" "00115" "2010-08-16 11:43:49" "" "" "SEQ" "DNA" "" "" "0000296647" "00295479" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297699" "00296589" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000311036" "00309878" "1" "03770" "03770" "2020-09-04 17:48:00" "03770" "2020-09-10 15:46:14" "SEQ-NG-I" "DNA" "Blood" "WES" "0000311357" "00310208" "1" "03770" "03770" "2020-09-09 18:43:33" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000456264" "00454651" "1" "00006" "00006" "2024-09-23 13:30:45" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000037513" "YARS2" "0000037514" "YARS2" "0000037515" "YARS2" "0000037516" "YARS2" "0000205221" "YARS2" "0000205222" "YARS2" "0000205223" "YARS2" "0000205224" "YARS2" "0000205225" "YARS2" "0000456264" "TTC19" ## 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 = 52 "{{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}}" "0000064638" "1" "10" "12" "32908961" "32908961" "subst" "0" "01164" "YARS2_000004" "g.32908961C>G" "frequency 3-19%" "" "" "" "" "Germline" "" "rs3827883" "0" "" "" "g.32756027C>G" "" "benign" "" "0000064639" "1" "10" "12" "32899929" "32899929" "subst" "0" "01164" "YARS2_000001" "g.32899929C>G" "frequency 5-33%" "" "" "" "" "Germline" "" "rs10844337" "0" "" "" "g.32746995C>G" "" "benign" "" "0000064640" "1" "10" "12" "32908518" "32908518" "subst" "0.123035" "01164" "YARS2_000003" "g.32908518G>A" "frequency 10-19%" "" "" "" "" "Germline" "" "rs11539444" "0" "" "" "g.32755584G>A" "" "benign" "" "0000064641" "1" "10" "12" "32908237" "32908237" "subst" "0.122929" "01164" "YARS2_000002" "g.32908237C>A" "frequency 10-16%" "" "" "" "" "Germline" "" "rs11539445" "0" "" "" "g.32755303C>A" "" "benign" "" "0000256059" "0" "50" "12" "32875412" "32875412" "subst" "0" "01943" "DNM1L_000013" "g.32875412A>G" "" "" "" "DNM1L(NM_001278464.1):c.963A>G (p.I321M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32722478A>G" "" "VUS" "" "0000322746" "0" "30" "12" "32884451" "32884451" "subst" "9.78043E-5" "01804" "DNM1L_000014" "g.32884451G>A" "" "" "" "DNM1L(NM_001278463.1):c.1356+6G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32731517G>A" "" "likely benign" "" "0000339844" "0" "10" "12" "32908518" "32908518" "subst" "0.123035" "02327" "YARS2_000003" "g.32908518G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32755584G>A" "" "benign" "" "0000417808" "3" "95" "12" "32908672" "32908672" "subst" "4.06375E-6" "01786" "YARS2_000006" "g.32908672C>T" "" "" "" "n.216G>A" "0/100 controls" "Germline" "" "" "0" "" "" "g.32755738C>T" "" "pathogenic" "" "0000417809" "11" "95" "12" "32908653" "32908653" "subst" "4.06194E-6" "00000" "YARS2_000005" "g.32908653G>C" "" "{PMID:Riley 2010:20598274}" "" "F52L" "" "Germline" "" "" "0" "" "" "g.32755719G>C" "" "pathogenic" "" "0000417810" "21" "95" "12" "32908653" "32908653" "subst" "4.06194E-6" "00000" "YARS2_000005" "g.32908653G>C" "" "{PMID:Riley 2010:20598274}" "" "F52L" "" "Germline" "" "" "0" "" "" "g.32755719G>C" "" "pathogenic" "" "0000417811" "11" "95" "12" "32908653" "32908653" "subst" "4.06194E-6" "00000" "YARS2_000005" "g.32908653G>C" "" "{PMID:Riley 2010:20598274}" "" "F52L" "" "Germline" "" "" "0" "" "" "g.32755719G>C" "" "pathogenic" "" "0000417812" "21" "95" "12" "32908653" "32908653" "subst" "4.06194E-6" "00000" "YARS2_000005" "g.32908653G>C" "" "{PMID:Riley 2010:20598274}" "" "F52L" "" "Germline" "" "" "0" "" "" "g.32755719G>C" "" "pathogenic" "" "0000417813" "1" "95" "12" "32908653" "32908653" "subst" "4.06194E-6" "00000" "YARS2_000005" "g.32908653G>C" "" "{PMID:Riley 2010:20598274}" "" "F52L" "" "Germline" "" "" "0" "" "" "g.32755719G>C" "" "pathogenic" "" "0000417814" "10" "95" "12" "32908653" "32908653" "subst" "4.06194E-6" "00000" "YARS2_000005" "g.32908653G>C" "" "{PMID:Riley 2010:20598274}" "" "F52L" "" "Germline" "" "" "0" "" "" "g.32755719G>C" "" "pathogenic" "" "0000417815" "20" "95" "12" "32908653" "32908653" "subst" "4.06194E-6" "00000" "YARS2_000005" "g.32908653G>C" "" "{PMID:Riley 2010:20598274}" "" "F52L" "" "Germline" "" "" "0" "" "" "g.32755719G>C" "" "pathogenic" "" "0000547834" "0" "70" "12" "32884296" "32884296" "subst" "0" "02329" "DNM1L_000009" "g.32884296C>T" "" "" "" "DNM1L(NM_001278464.2):c.1246C>T (p.R416C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32731362C>T" "" "likely pathogenic" "" "0000547835" "0" "50" "12" "32902874" "32902874" "subst" "4.0625E-6" "02327" "YARS2_000007" "g.32902874C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32749940C>T" "" "VUS" "" "0000547836" "0" "50" "12" "32908154" "32908154" "subst" "0" "02327" "YARS2_000008" "g.32908154A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32755220A>C" "" "VUS" "" "0000614099" "0" "90" "12" "32884296" "32884296" "subst" "0" "02327" "DNM1L_000009" "g.32884296C>T" "" "" "" "DNM1L(NM_001278464.2):c.1246C>T (p.R416C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32731362C>T" "" "pathogenic" "" "0000622866" "0" "30" "12" "32893124" "32893124" "subst" "0.000495472" "01943" "YARS2_000010" "g.32893124A>T" "" "" "" "DNM1L(NM_001278464.1):c.1873A>T (p.I625F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32740190A>T" "" "likely benign" "" "0000622867" "0" "30" "12" "32908274" "32908274" "subst" "0.000577593" "01943" "YARS2_000011" "g.32908274T>G" "" "" "" "YARS2(NM_001040436.2):c.535A>C (p.K179Q), YARS2(NM_001040436.3):c.535A>C (p.(Lys179Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32755340T>G" "" "likely benign" "" "0000653336" "1" "90" "12" "32908449" "32908449" "dup" "0" "03575" "YARS2_000012" "g.32908449dup" "5/2764 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs797045077}\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs797045077" "0" "" "" "g.32755516dup" "" "pathogenic" "" "0000660308" "3" "90" "12" "32908672" "32908672" "subst" "4.06375E-6" "00006" "YARS2_000006" "g.32908672C>T" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.32755738C>T" "" "pathogenic (recessive)" "" "0000679495" "0" "30" "12" "32875454" "32875454" "subst" "0.00516679" "01943" "YARS2_000009" "g.32875454C>T" "" "" "" "DNM1L(NM_001278464.1):c.1005C>T (p.Y335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679496" "0" "30" "12" "32875577" "32875577" "subst" "0.000599122" "01943" "YARS2_000013" "g.32875577A>G" "" "" "" "DNM1L(NM_001278464.1):c.1118+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679497" "0" "50" "12" "32883961" "32883961" "subst" "0" "01943" "YARS2_000014" "g.32883961A>G" "" "" "" "DNM1L(NM_001278464.1):c.1132A>G (p.R378G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724005" "0" "30" "12" "32875468" "32875468" "subst" "0" "01943" "YARS2_000015" "g.32875468A>C" "" "" "" "DNM1L(NM_001278464.1):c.1019A>C (p.D340A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724006" "0" "90" "12" "32906978" "32906981" "del" "0" "02327" "YARS2_000016" "g.32906978_32906981del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724007" "0" "50" "12" "32908237" "32908237" "subst" "0.122929" "02327" "YARS2_000002" "g.32908237C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000760588" "1" "90" "12" "32908237" "32908237" "subst" "0.122929" "00006" "YARS2_000002" "g.32908237C>A" "" "{PMID:Zehravi 2021:33734897}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000760589" "1" "90" "12" "32908237" "32908237" "subst" "0.122929" "00006" "YARS2_000002" "g.32908237C>A" "" "{PMID:Zehravi 2021:33734897}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000805692" "0" "30" "12" "32873724" "32873724" "subst" "1.21989E-5" "01943" "YARS2_000017" "g.32873724A>G" "" "" "" "DNM1L(NM_001278464.1):c.906A>G (p.L302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805693" "0" "30" "12" "32875481" "32875481" "subst" "0" "01943" "YARS2_000018" "g.32875481T>C" "" "" "" "DNM1L(NM_001278464.1):c.1032T>C (p.A344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805694" "0" "30" "12" "32884358" "32884358" "subst" "1.21866E-5" "01943" "YARS2_000019" "g.32884358T>A" "" "" "" "DNM1L(NM_001278464.1):c.1308T>A (p.R436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853377" "0" "50" "12" "32886737" "32886737" "subst" "7.31707E-5" "01943" "DNM1L_000017" "g.32886737T>C" "" "" "" "DNM1L(NM_001278464.1):c.1574T>C (p.I525T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853378" "0" "30" "12" "32906869" "32906869" "subst" "0.000881297" "02326" "YARS2_000021" "g.32906869C>T" "" "" "" "YARS2(NM_001040436.3):c.930G>A (p.P310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862962" "0" "90" "12" "32902875" "32902875" "subst" "8.12434E-6" "01943" "YARS2_000020" "g.32902875G>A" "" "" "" "YARS2(NM_001040436.2):c.1270C>T (p.R424*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925620" "0" "10" "12" "32900216" "32900216" "subst" "0.00204758" "02325" "YARS2_000022" "g.32900216T>C" "" "" "" "YARS2(NM_001040436.3):c.1356A>G (p.Q452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930080" "0" "50" "12" "32893014" "32893014" "subst" "2.84352E-5" "02325" "YARS2_000023" "g.32893014G>A" "" "" "" "DNM1L(NM_012062.5):c.1724G>A (p.G575D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949936" "0" "70" "12" "32884329" "32884329" "subst" "0" "02325" "YARS2_000024" "g.32884329G>A" "" "" "" "DNM1L(NM_012062.5):c.1240G>A (p.E414K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000966875" "0" "30" "12" "32893162" "32893162" "subst" "4.46715E-5" "02326" "YARS2_000025" "g.32893162C>T" "" "" "" "DNM1L(NM_012062.5):c.1872C>T (p.N624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980229" "0" "50" "12" "32873645" "32873645" "subst" "3.65788E-5" "01804" "YARS2_000026" "g.32873645G>A" "" "" "" "DNM1L(NM_012062.5):c.788G>A (p.(Arg263His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980230" "0" "50" "12" "32890853" "32890853" "subst" "2.43774E-5" "01804" "YARS2_000027" "g.32890853G>A" "" "" "" "DNM1L(NM_001278464.1):c.1690G>A (p.(Ala551Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980231" "0" "50" "12" "32895533" "32895533" "subst" "0" "01804" "YARS2_000028" "g.32895533G>A" "" "" "" "DNM1L(NM_012062.5):c.2005G>A (p.(Ala669Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980232" "0" "50" "12" "32895540" "32895540" "subst" "0" "02325" "YARS2_000029" "g.32895540T>C" "" "" "" "DNM1L(NM_012062.5):c.2012T>C (p.M671T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999957" "0" "30" "12" "32908705" "32908705" "subst" "0.0037835" "01804" "YARS2_000030" "g.32908705G>T" "" "" "" "YARS2(NM_001040436.2):c.104C>A (p.(Ala35Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001008490" "3" "90" "12" "32906866" "32906866" "subst" "2.84287E-5" "00006" "YARS2_000031" "g.32906866G>C" "" "{PMID:Ardissone 2016:25638461}" "" "" "" "Germline" "yes" "" "0" "" "" "g.32753932G>C" "" "pathogenic (recessive)" "" "0001014960" "0" "70" "12" "32906866" "32906866" "subst" "2.84287E-5" "02327" "YARS2_000031" "g.32906866G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001039197" "0" "50" "12" "32890847" "32890847" "subst" "4.0622E-6" "01804" "YARS2_000032" "g.32890847C>T" "" "" "" "DNM1L(NM_012062.5):c.1645C>T (p.(Pro549Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039198" "0" "50" "12" "32903728" "32903728" "subst" "3.65494E-5" "01804" "YARS2_000033" "g.32903728C>T" "" "" "" "YARS2(NM_001040436.3):c.1028G>A (p.(Arg343Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039199" "0" "30" "12" "32908274" "32908274" "subst" "0.000577593" "01804" "YARS2_000011" "g.32908274T>G" "" "" "" "YARS2(NM_001040436.2):c.535A>C (p.K179Q), YARS2(NM_001040436.3):c.535A>C (p.(Lys179Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039200" "0" "50" "12" "32908801" "32908801" "subst" "8.29524E-6" "01804" "YARS2_000034" "g.32908801G>A" "" "" "" "YARS2(NM_001040436.3):c.8C>T (p.(Ala3Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes YARS2 ## Count = 52 "{{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}}" "0000064638" "00022955" "10" "-153" "0" "-153" "0" "c.-153G>C" "r.(=)" "p.(=)" "" "0000064639" "00022955" "10" "1643" "0" "1643" "0" "c.*209G>C" "r.(=)" "p.(=)" "" "0000064640" "00022955" "10" "291" "0" "291" "0" "c.291C>T" "r.(=)" "p.(=)" "" "0000064641" "00022955" "10" "572" "0" "572" "0" "c.572G>T" "r.(=)" "p.(Gly191Val)" "" "0000256059" "00022955" "50" "26160" "0" "26160" "0" "c.*24726T>C" "r.(=)" "p.(=)" "" "0000322746" "00022955" "30" "17121" "0" "17121" "0" "c.*15687C>T" "r.(=)" "p.(=)" "" "0000339844" "00022955" "10" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(Gly97=)" "" "0000417808" "00022955" "95" "137" "0" "137" "0" "c.137G>A" "r.137g>a" "p.Gly46Asp" "1" "0000417809" "00022955" "95" "156" "0" "156" "0" "c.156C>G" "r.(?)" "p.(Phe52Leu)" "1" "0000417810" "00022955" "95" "156" "0" "156" "0" "c.156C>G" "r.(?)" "p.(Phe52Leu)" "1" "0000417811" "00022955" "95" "156" "0" "156" "0" "c.156C>G" "r.(?)" "p.(Phe52Leu)" "1" "0000417812" "00022955" "95" "156" "0" "156" "0" "c.156C>G" "r.(?)" "p.(Phe52Leu)" "1" "0000417813" "00022955" "95" "156" "0" "156" "0" "c.156C>G" "r.(?)" "p.(Phe52Leu)" "1" "0000417814" "00022955" "95" "156" "0" "156" "0" "c.156C>G" "r.(?)" "p.(Phe52Leu)" "1" "0000417815" "00022955" "95" "156" "0" "156" "0" "c.156C>G" "r.(?)" "p.(Phe52Leu)" "1" "0000547834" "00022955" "70" "17276" "0" "17276" "0" "c.*15842G>A" "r.(=)" "p.(=)" "" "0000547835" "00022955" "50" "1271" "0" "1271" "0" "c.1271G>A" "r.(?)" "p.(Arg424Gln)" "" "0000547836" "00022955" "50" "655" "0" "655" "0" "c.655T>G" "r.(?)" "p.(Phe219Val)" "" "0000614099" "00022955" "90" "17276" "0" "17276" "0" "c.*15842G>A" "r.(=)" "p.(=)" "" "0000622866" "00022955" "30" "8448" "0" "8448" "0" "c.*7014T>A" "r.(=)" "p.(=)" "" "0000622867" "00022955" "30" "535" "0" "535" "0" "c.535A>C" "r.(?)" "p.(Lys179Gln)" "" "0000653336" "00022955" "90" "360" "0" "360" "0" "c.360dup" "" "" "" "0000660308" "00022955" "90" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Gly46Asp)" "" "0000679495" "00022955" "30" "26118" "0" "26118" "0" "c.*24684G>A" "r.(=)" "p.(=)" "" "0000679496" "00022955" "30" "25995" "0" "25995" "0" "c.*24561T>C" "r.(=)" "p.(=)" "" "0000679497" "00022955" "50" "17611" "0" "17611" "0" "c.*16177T>C" "r.(=)" "p.(=)" "" "0000724005" "00022955" "30" "26104" "0" "26104" "0" "c.*24670T>G" "r.(=)" "p.(=)" "" "0000724006" "00022955" "90" "820" "0" "823" "0" "c.820_823del" "r.(?)" "p.(Ile274Glnfs*18)" "" "0000724007" "00022955" "50" "572" "0" "572" "0" "c.572G>T" "r.(?)" "p.(Gly191Val)" "" "0000760588" "00022955" "90" "572" "0" "572" "0" "c.572G>T" "r.(?)" "p.(Gly191Val)" "" "0000760589" "00022955" "90" "572" "0" "572" "0" "c.572G>T" "r.(?)" "p.(Gly191Val)" "" "0000805692" "00022955" "30" "27848" "0" "27848" "0" "c.*26414T>C" "r.(=)" "p.(=)" "" "0000805693" "00022955" "30" "26091" "0" "26091" "0" "c.*24657A>G" "r.(=)" "p.(=)" "" "0000805694" "00022955" "30" "17214" "0" "17214" "0" "c.*15780A>T" "r.(=)" "p.(=)" "" "0000853377" "00022955" "50" "14835" "0" "14835" "0" "c.*13401A>G" "r.(=)" "p.(=)" "" "0000853378" "00022955" "30" "930" "0" "930" "0" "c.930G>A" "r.(?)" "p.(Pro310=)" "" "0000862962" "00022955" "90" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424*)" "" "0000925620" "00022955" "10" "1356" "0" "1356" "0" "c.1356A>G" "r.(?)" "p.(Gln452=)" "" "0000930080" "00022955" "50" "8558" "0" "8558" "0" "c.*7124C>T" "r.(=)" "p.(=)" "" "0000949936" "00022955" "70" "17243" "0" "17243" "0" "c.*15809C>T" "r.(=)" "p.(=)" "" "0000966875" "00022955" "30" "8410" "0" "8410" "0" "c.*6976G>A" "r.(=)" "p.(=)" "" "0000980229" "00022955" "50" "27927" "0" "27927" "0" "c.*26493C>T" "r.(=)" "p.(=)" "" "0000980230" "00022955" "50" "10719" "0" "10719" "0" "c.*9285C>T" "r.(=)" "p.(=)" "" "0000980231" "00022955" "50" "6039" "0" "6039" "0" "c.*4605C>T" "r.(=)" "p.(=)" "" "0000980232" "00022955" "50" "6032" "0" "6032" "0" "c.*4598A>G" "r.(=)" "p.(=)" "" "0000999957" "00022955" "30" "104" "0" "104" "0" "c.104C>A" "r.(?)" "p.(Ala35Asp)" "" "0001008490" "00022955" "90" "933" "0" "933" "0" "c.933C>G" "r.(?)" "p.(Asp311Glu)" "" "0001014960" "00022955" "70" "933" "0" "933" "0" "c.933C>G" "r.(?)" "p.(Asp311Glu)" "" "0001039197" "00022955" "50" "10725" "0" "10725" "0" "c.*9291G>A" "r.(=)" "p.(=)" "" "0001039198" "00022955" "50" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Arg343Gln)" "" "0001039199" "00022955" "30" "535" "0" "535" "0" "c.535A>C" "r.(?)" "p.(Lys179Gln)" "" "0001039200" "00022955" "50" "8" "0" "8" "0" "c.8C>T" "r.(?)" "p.(Ala3Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000037513" "0000064638" "0000037514" "0000064639" "0000037515" "0000064640" "0000037516" "0000064641" "0000205221" "0000417808" "0000205222" "0000417809" "0000205222" "0000417810" "0000205223" "0000417811" "0000205223" "0000417812" "0000205224" "0000417813" "0000205225" "0000417814" "0000205225" "0000417815" "0000296647" "0000653336" "0000297699" "0000660308" "0000311036" "0000760588" "0000311357" "0000760589" "0000456264" "0001008490"