### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = LARS)
# 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}}"
"LARS" "leucyl-tRNA synthetase" "5" "q32" "unknown" "NC_000005.9" "UD_132612376410" "" "https://www.LOVD.nl/LARS1" "" "1" "6512" "51520" "151350" "1" "1" "1" "1" "Alias LARS.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from LARS to LARS1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-12-05 11:57:29" "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}}"
"00010973" "LARS" "leucyl-tRNA synthetase" "001" "NM_020117.9" "" "NP_064502.9" "" "" "" "-238" "4611" "3531" "145562294" "145492589" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{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"
"03948" "ILFS1" "liver failure syndrome, infantile, type 1" "AR" "615438" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"LARS" "03948"
## Individuals ## Do not remove or alter this header ##
## Count = 5
"{{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}}"
"00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
"00293772" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00324466" "" "" "" "1" "" "00006" "{PMID:Fuchs 2019:29875423}" "" "F" "" "" "" "0" "" "" "" "Pat3"
"00327416" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "172369"
"00470689" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected" "F" "" "Poland" "" "0" "" "" "" "Pat50"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}" "{{diseaseid}}"
"00050575" "00198"
"00293772" "00198"
"00324466" "00198"
"00327416" "03948"
"00470689" "07210"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 03948, 07210
## Count = 4
"{{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}}"
"0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" ""
"0000243010" "00198" "00324466" "00006" "Familial, autosomal recessive" "05y06m" "see paper; ..." "" "" "" "" "" "" "" "" "" "" ""
"0000245705" "03948" "00327416" "01164" "Unknown" "01y" "(+) Acute encephalopathy,(+) Acute necrotizing encephalopathy; Fever, vomiting, rapid deterioration to coma, cMRI bithalamic space-occupying lesions compatible with encephalitis." "" "" "" "" "" "" "" "" "" "" ""
"0000355583" "07210" "00470689" "00006" "Isolated (sporadic)" "15y" "see paper; ... scoliosis, no other skeletal defects; back pain, respiratory difficulties; physical activity" "" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" ""
## Screenings ## Do not remove or alter this header ##
## Count = 5
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000294940" "00293772" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000325658" "00324466" "1" "00006" "00006" "2020-12-14 10:48:47" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000328628" "00327416" "1" "01164" "01164" "2021-01-21 12:28:38" "" "" "SEQ-NG-I" "DNA" "" ""
"0000472356" "00470689" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{geneid}}"
"0000325658" "LARS"
"0000328628" "LARS"
## 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 = 22
"{{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}}"
"0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" ""
"0000348448" "0" "50" "5" "145532738" "145532738" "subst" "0" "02327" "LARS_000003" "g.145532738G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.146153175G>A" "" "VUS" ""
"0000524657" "0" "50" "5" "145502120" "145502120" "subst" "8.1648E-6" "01943" "LARS_000005" "g.145502120C>T" "" "" "" "LARS(NM_020117.10):c.3127G>A (p.E1043K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146122557C>T" "" "VUS" ""
"0000524658" "0" "30" "5" "145508244" "145508244" "subst" "0" "01943" "LARS_000006" "g.145508244T>G" "" "" "" "LARS(NM_020117.10):c.2871A>C (p.K957N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146128681T>G" "" "likely benign" ""
"0000621499" "0" "50" "5" "145523019" "145523019" "del" "0" "02325" "LARS_000007" "g.145523019del" "" "" "" "LARS1(NM_020117.11):c.1838delG (p.G613Vfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146143456del" "" "VUS" ""
"0000651629" "1" "10" "5" "145503564" "145503564" "subst" "0.00396395" "03575" "LARS_000008" "g.145503564T>C" "3/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs34823161}" "Germline" "" "rs34823161" "0" "" "" "g.146124001T>C" "" "benign" ""
"0000708791" "1" "90" "5" "145493784" "145493784" "del" "0" "00006" "LARS_000002" "g.145493784del" "" "{PMID:Fuchs 2019:29875423}" "" "" "" "Germline" "" "" "0" "" "" "g.146114221del" "" "pathogenic (recessive)" ""
"0000708792" "2" "90" "5" "145532738" "145532738" "subst" "0" "00006" "LARS_000003" "g.145532738G>A" "" "{PMID:Fuchs 2019:29875423}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000712586" "0" "50" "5" "145524256" "145524256" "subst" "0" "01164" "LARS_000009" "g.145524256T>C" "" "" "" "" "ACMG: PM2, PP3: class 3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG"
"0000712587" "0" "50" "5" "145543880" "145543880" "subst" "4.06246E-6" "01164" "LARS_000010" "g.145543880C>G" "" "" "" "" "ACMG: PM2, PP3: class 3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG"
"0000720246" "0" "50" "5" "145529182" "145529182" "subst" "0" "02329" "LARS_000001" "g.145529182T>C" "" "" "" "LARS1(NM_020117.11):c.1503+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000720247" "0" "50" "5" "145531558" "145531558" "subst" "0.00035791" "02329" "LARS_000004" "g.145531558A>T" "" "" "" "LARS1(NM_020117.11):c.1292T>A (p.V431D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000859797" "0" "30" "5" "145499948" "145499948" "subst" "7.72735E-5" "01943" "LARS_000011" "g.145499948T>C" "" "" "" "LARS(NM_020117.10):c.3311A>G (p.N1104S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000859798" "0" "30" "5" "145512520" "145512520" "subst" "3.24952E-5" "01943" "LARS_000012" "g.145512520G>C" "" "" "" "LARS(NM_020117.10):c.2337C>G (p.A779=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001014092" "0" "50" "5" "145508347" "145508347" "subst" "0.00015472" "02325" "LARS_000013" "g.145508347T>C" "" "" "" "LARS(NM_020117.11):c.2770-2A>G, LARS1(NM_020117.11):c.2770-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001046015" "0" "50" "5" "145537108" "145537108" "subst" "0.000361559" "02327" "LARS_000014" "g.145537108C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001046016" "0" "50" "5" "145557173" "145557173" "subst" "8.95E-5" "02327" "LARS_000015" "g.145557173T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001052142" "0" "50" "5" "145508317" "145508317" "subst" "0" "01804" "LARS_000016" "g.145508317G>T" "" "" "" "LARS(NM_020117.11):c.2798C>A (p.(Pro933His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001052143" "0" "50" "5" "145524030" "145524030" "subst" "0" "01804" "LARS_000017" "g.145524030C>T" "" "" "" "LARS(NM_020117.11):c.1655+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001052144" "0" "30" "5" "145533376" "145533376" "subst" "4.06405E-6" "01804" "LARS_000018" "g.145533376T>C" "" "" "" "LARS(NM_020117.11):c.1154-3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001060817" "0" "70" "5" "145543913" "145543913" "subst" "4.07714E-6" "00006" "LARS_000019" "g.145543913G>A" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PM3, PP3, PM2, PP5; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.146164350G>A" "" "likely pathogenic" "ACMG"
"0001064428" "0" "70" "5" "145508347" "145508347" "subst" "0.00015472" "01804" "LARS_000013" "g.145508347T>C" "" "" "" "LARS(NM_020117.11):c.2770-2A>G, LARS1(NM_020117.11):c.2770-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
## 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 LARS
## Count = 22
"{{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}}"
"0000079500" "00010973" "00" "-155229" "0" "8388607" "0" "c.-155229_*21665145dup" "" "" ""
"0000348448" "00010973" "50" "1283" "0" "1283" "0" "c.1283C>T" "r.(?)" "p.(Pro428Leu)" ""
"0000524657" "00010973" "50" "3127" "0" "3127" "0" "c.3127G>A" "r.(?)" "p.(Glu1043Lys)" ""
"0000524658" "00010973" "30" "2871" "0" "2871" "0" "c.2871A>C" "r.(?)" "p.(Lys957Asn)" ""
"0000621499" "00010973" "50" "1838" "0" "1838" "0" "c.1838del" "r.(?)" "p.(Gly613ValfsTer18)" ""
"0000651629" "00010973" "10" "3077" "0" "3077" "0" "c.3077A>G" "r.(?)" "p.(Tyr1026Cys)" ""
"0000708791" "00010973" "90" "3420" "0" "3420" "0" "c.3420del" "r.(?)" "p.(Ile1141Phefs*12)" ""
"0000708792" "00010973" "90" "1283" "0" "1283" "0" "c.1283C>T" "r.(?)" "p.(Pro428Leu)" ""
"0000712586" "00010973" "50" "1520" "0" "1520" "0" "c.1520A>G" "r.(?)" "p.(Tyr507Cys)" ""
"0000712587" "00010973" "50" "587" "0" "587" "0" "c.587G>C" "r.(?)" "p.(Gly196Ala)" ""
"0000720246" "00010973" "50" "1503" "3" "1503" "3" "c.1503+3A>G" "r.spl?" "p.?" ""
"0000720247" "00010973" "50" "1292" "0" "1292" "0" "c.1292T>A" "r.(?)" "p.(Val431Asp)" ""
"0000859797" "00010973" "30" "3311" "0" "3311" "0" "c.3311A>G" "r.(?)" "p.(Asn1104Ser)" ""
"0000859798" "00010973" "30" "2337" "0" "2337" "0" "c.2337C>G" "r.(?)" "p.(Ala779=)" ""
"0001014092" "00010973" "50" "2770" "-2" "2770" "-2" "c.2770-2A>G" "r.spl?" "p.?" ""
"0001046015" "00010973" "50" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Arg308His)" ""
"0001046016" "00010973" "50" "62" "0" "62" "0" "c.62A>G" "r.(?)" "p.(Gln21Arg)" ""
"0001052142" "00010973" "50" "2798" "0" "2798" "0" "c.2798C>A" "r.(?)" "p.(Pro933His)" ""
"0001052143" "00010973" "50" "1655" "5" "1655" "5" "c.1655+5G>A" "r.spl?" "p.?" ""
"0001052144" "00010973" "30" "1154" "-3" "1154" "-3" "c.1154-3A>G" "r.spl?" "p.?" ""
"0001060817" "00010973" "70" "554" "0" "554" "0" "c.554C>T" "r.(?)" "p.(Pro185Leu)" ""
"0001064428" "00010973" "70" "2770" "-2" "2770" "-2" "c.2770-2A>G" "r.spl?" "p.?" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}" "{{variantid}}"
"0000050520" "0000079500"
"0000294940" "0000651629"
"0000325658" "0000708791"
"0000325658" "0000708792"
"0000328628" "0000712586"
"0000328628" "0000712587"
"0000472356" "0001060817"