### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LARS2) # 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}}" "LARS2" "leucyl-tRNA synthetase 2, mitochondrial" "3" "p21.3" "unknown" "NC_000003.11" "UD_132463693941" "" "http://www.LOVD.nl/LARS2" "" "1" "17095" "23395" "604544" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/LARS2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-12-18 06:53:48" "00000" "2025-11-01 13:22:20" ## 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}}" "00010974" "LARS2" "leucyl-tRNA synthetase 2, mitochondrial" "001" "NM_015340.3" "" "NP_056155.1" "" "" "" "-185" "4018" "2712" "45430075" "45590328" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00616" "PRLTS" "Perrault syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-06 10:12:39" "03893" "PRLTS4" "Perrault syndrome, type 4 (PRLTS4)" "AR" "615300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "06564" "HLASA" "?Hydrops, lactic acidosis, and sideroblastic anemia" "AR" "617021" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "LARS2" "00616" "LARS2" "03893" "LARS2" "06564" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00056383" "" "" "" "2" "" "01491" "{PMID:Demain 2016:26970254}, {DOI:Demain 2016:10.1111/cge.12776}" "2-generation family, affected sister/brother (II2), unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Argentina" "" "00056384" "" "" "" "2" "" "01491" "{PMID:Demain 2016:26970254}, {DOI:Demain 2016:10.1111/cge.12776}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00080060" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00087126" "" "" "" "1" "" "00006" "{PMID:Lerat 2016:27650058}, {DOI:Lerat 2016:10.1002/humu.23120}" "" "" "no" "" "" "0" "" "" "Sri Lanka" "" "00264153" "" "" "" "1" "" "02476" "" "" "M" "no" "Argentina" "01y" "0" "" "cochlear implant" "white" "" "00282356" "" "" "" "1" "" "00004" "{PMID:Richards 2015:25741868}" "" "" "" "" "" "0" "" "" "" "" "00282357" "" "" "" "1" "" "00004" "{PMID:Soldà 2016:26657938}" "" "" "" "" "" "0" "" "" "" "" "00282358" "" "" "" "1" "" "00004" "{PMID:Pierce 2013:23541342}" "" "" "" "" "" "0" "" "" "" "" "00282359" "" "" "" "1" "" "00004" "{PMID:Pierce 2013:23541342}" "" "" "" "" "" "0" "" "" "" "" "00282360" "" "" "" "1" "" "00004" "{PMID:Pierce 2013:23541342}" "" "" "" "" "" "0" "" "" "" "" "00282361" "" "" "" "1" "" "00004" "{PMID:Soldà 2016:26657938}" "" "" "" "" "" "0" "" "" "" "" "00293395" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295959" "" "" "" "1" "" "03640" "" "" "F" "" "China" "24y" "0" "" "" "" "proband (Ⅱ-2)" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00056383" "03893" "00056384" "03893" "00080060" "05103" "00087126" "00616" "00264153" "05103" "00282357" "05103" "00282358" "00616" "00282359" "00616" "00282360" "00616" "00282361" "05103" "00293395" "00198" "00295959" "03893" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00616, 03893, 05103, 06564 ## Count = 10 "{{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}}" "0000043002" "03893" "00056383" "01491" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000043003" "03893" "00056384" "01491" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000066707" "00616" "00087126" "00006" "Familial, autosomal recessive" "" "see paper;, ..., moderate deafness, amenorrhea I, no neurological symptoms, cleft palate" "<03y" "" "" "" "" "" "" "" "" "" "" "0000201995" "05103" "00264153" "02476" "Familial, autosomal recessive" "01y" "" "01y" "07y" "congenital" "" "" "" "" "" "" "severe-profound prelingual deafness" "" "0000217852" "00616" "00282358" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Perrault syndrome" "" "0000217853" "00616" "00282359" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Perrault syndrome" "" "0000217854" "00616" "00282360" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Perrault syndrome" "" "0000218401" "05103" "00282357" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 4" "Perrault syndrome 4" "" "0000218402" "05103" "00282361" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 4" "Perrault syndrome 4" "" "0000223435" "03893" "00295959" "03640" "Familial, autosomal recessive" "24y" "sensorineural hearing loss (HP:0000407),premature ovarian insufficiency (HP:0008209)" "" "" "" "" "" "" "" "" "Perrault syndrome, type 4 (PRLTS-4)" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000056338" "00056383" "1" "01491" "01491" "2015-12-17 11:42:27" "" "" "SEQ-NG" "DNA" "" "" "0000056339" "00056383" "1" "01491" "01491" "2015-12-17 11:44:10" "" "" "SEQ" "DNA" "" "" "0000056340" "00056384" "1" "01491" "01491" "2015-12-17 11:56:11" "" "" "SEQ-NG" "DNA" "" "" "0000056341" "00056384" "1" "01491" "01491" "2015-12-17 11:57:00" "" "" "SEQ" "DNA" "" "" "0000080139" "00080060" "1" "01740" "01740" "2016-09-01 14:16:51" "" "" "SEQ-NG" "DNA" "" "" "0000087265" "00087126" "1" "00006" "00006" "2016-11-13 16:14:19" "" "" "SEQ" "DNA" "" "" "0000265273" "00264153" "1" "02476" "02476" "2019-09-12 18:41:33" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000283506" "00282356" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283507" "00282357" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283508" "00282358" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283509" "00282359" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283510" "00282360" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283511" "00282361" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000294563" "00293395" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297131" "00295959" "1" "03640" "03640" "2020-03-30 15:46:50" "" "" "PCR;SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000056339" "LARS2" "0000056341" "LARS2" "0000087265" "LARS2" "0000265273" "LARS2" "0000283506" "LARS2" "0000283507" "LARS2" "0000283508" "LARS2" "0000283509" "LARS2" "0000283510" "LARS2" "0000283511" "LARS2" "0000297131" "LARS2" ## 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 = 64 "{{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}}" "0000086579" "3" "70" "3" "45537808" "45537808" "subst" "0.000308604" "01491" "LARS2_000001" "g.45537808C>A" "" "{PMID:Demain 2016:26970254}, {DOI:Demain 2016:10.1111/cge.12776}" "" "" "" "Germline" "yes" "rs199589947" "0" "" "" "g.45496316C>A" "" "likely pathogenic" "" "0000086580" "11" "70" "3" "45441853" "45441853" "subst" "0" "01491" "LARS2_000002" "g.45441853G>C" "" "{PMID:Demain 2016:26970254}, {DOI:Demain 2016:10.1111/cge.12776}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45400361G>C" "" "likely pathogenic" "" "0000086581" "0" "70" "3" "45537808" "45537808" "subst" "0.000308604" "01491" "LARS2_000001" "g.45537808C>A" "" "{PMID:Demain 2016:26970254}, {DOI:Demain 2016:10.1111/cge.12776}" "" "" "" "Germline" "" "rs199589947" "0" "" "" "g.45496316C>A" "" "likely pathogenic" "" "0000129049" "1" "70" "3" "45500311" "45500311" "subst" "0" "01740" "LARS2_000003" "g.45500311G>A" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.45458819G>A" "" "likely pathogenic" "" "0000129050" "2" "70" "3" "45517981" "45517981" "subst" "1.62602E-5" "01740" "LARS2_000004" "g.45517981G>A" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.45476489G>A" "" "likely pathogenic" "" "0000140433" "1" "90" "3" "45533127" "45533127" "subst" "8.12368E-5" "00006" "LARS2_000005" "g.45533127G>A" "" "{PMID:Lerat 2016:27650058}, {DOI:Lerat 2016:10.1002/humu.23120}" "" "" "" "Germline" "" "rs572177274" "0" "" "" "g.45491635G>A" "" "pathogenic" "" "0000140434" "2" "90" "3" "45557610" "45557610" "subst" "6.09583E-5" "00006" "LARS2_000006" "g.45557610C>T" "" "{PMID:Lerat 2016:27650058}, {DOI:Lerat 2016:10.1002/humu.23120}" "" "" "" "Germline" "" "rs398123036" "0" "" "" "g.45516118C>T" "" "pathogenic" "" "0000290878" "0" "30" "3" "45559561" "45559561" "subst" "0.000233186" "01943" "LARS2_000009" "g.45559561T>C" "" "" "" "LARS2(NM_015340.4):c.2211T>C (p.S737=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45518069T>C" "" "likely benign" "" "0000290879" "0" "30" "3" "45441757" "45441757" "subst" "0.00113527" "01943" "LARS2_000007" "g.45441757C>T" "" "" "" "LARS2(NM_015340.4):c.255C>T (p.Y85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45400265C>T" "" "likely benign" "" "0000343607" "0" "50" "3" "45461162" "45461162" "subst" "0" "02327" "LARS2_000010" "g.45461162A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45419670A>C" "" "VUS" "" "0000346450" "0" "10" "3" "45518073" "45518073" "subst" "0.022375" "02327" "LARS2_000011" "g.45518073C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45476581C>A" "" "benign" "" "0000349547" "0" "90" "3" "45537808" "45537808" "subst" "0.000308604" "02327" "LARS2_000001" "g.45537808C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45496316C>A" "" "pathogenic" "" "0000350137" "0" "50" "3" "45541981" "45541981" "subst" "0" "02327" "LARS2_000012" "g.45541981A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45500489A>G" "" "VUS" "" "0000519861" "0" "50" "3" "45441840" "45441840" "subst" "0.00041199" "01943" "LARS2_000013" "g.45441840G>A" "" "" "" "LARS2(NM_015340.4):c.338G>A (p.R113Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45400348G>A" "" "VUS" "" "0000519862" "0" "50" "3" "45441864" "45441864" "subst" "0.00106848" "01943" "LARS2_000014" "g.45441864A>G" "" "" "" "LARS2(NM_015340.4):c.362A>G (p.Q121R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45400372A>G" "" "VUS" "" "0000519863" "0" "50" "3" "45461193" "45461193" "subst" "0.000134015" "01943" "LARS2_000015" "g.45461193G>A" "" "" "" "LARS2(NM_015340.4):c.488G>A (p.R163H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45419701G>A" "" "VUS" "" "0000519864" "0" "50" "3" "45518038" "45518038" "subst" "0" "01943" "LARS2_000016" "g.45518038G>C" "" "" "" "LARS2(NM_015340.4):c.937G>C (p.A313P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45476546G>C" "" "VUS" "" "0000519865" "0" "50" "3" "45518119" "45518119" "subst" "4.07302E-6" "01943" "LARS2_000017" "g.45518119G>A" "" "" "" "LARS2(NM_015340.4):c.1018G>A (p.D340N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45476627G>A" "" "VUS" "" "0000519867" "0" "30" "3" "45542003" "45542003" "subst" "0.00211748" "01943" "LARS2_000018" "g.45542003C>T" "" "" "" "LARS2(NM_015340.4):c.1692C>T (p.A564=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45500511C>T" "" "likely benign" "" "0000519868" "0" "50" "3" "45542064" "45542064" "subst" "0" "01943" "LARS2_000019" "g.45542064A>G" "" "" "" "LARS2(NM_015340.4):c.1753A>G (p.K585E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45500572A>G" "" "VUS" "" "0000519869" "0" "30" "3" "45557662" "45557662" "subst" "0.000109651" "01943" "LARS2_000020" "g.45557662C>T" "" "" "" "LARS2(NM_015340.4):c.1938C>T (p.N646=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45516170C>T" "" "likely benign" "" "0000519870" "0" "30" "3" "45557671" "45557671" "subst" "4.06088E-5" "01943" "LARS2_000021" "g.45557671C>A" "" "" "" "LARS2(NM_015340.4):c.1947C>A (p.D649E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45516179C>A" "" "likely benign" "" "0000519871" "0" "30" "3" "45557694" "45557694" "subst" "0" "01804" "LARS2_000022" "g.45557694A>G" "" "" "" "LARS2(NM_015340.3):c.1970A>G (p.(Tyr657Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45516202A>G" "" "likely benign" "" "0000519872" "0" "50" "3" "45559410" "45559410" "subst" "0" "02327" "LARS2_000023" "g.45559410G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45517918G>A" "" "VUS" "" "0000519873" "0" "50" "3" "45559464" "45559464" "subst" "4.06194E-6" "01943" "LARS2_000024" "g.45559464C>A" "" "" "" "LARS2(NM_015340.4):c.2114C>A (p.A705D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45517972C>A" "" "VUS" "" "0000519874" "0" "30" "3" "45559518" "45559518" "subst" "0.000211348" "01943" "LARS2_000025" "g.45559518C>A" "" "" "" "LARS2(NM_015340.4):c.2168C>A (p.A723D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45518026C>A" "" "likely benign" "" "0000519875" "0" "30" "3" "45559522" "45559522" "subst" "0.000150405" "01804" "LARS2_000026" "g.45559522G>T" "" "" "" "LARS2(NM_015340.3):c.2172G>T (p.(Glu724Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45518030G>T" "" "likely benign" "" "0000519876" "0" "30" "3" "45565503" "45565503" "subst" "0.000601132" "01943" "LARS2_000027" "g.45565503C>T" "" "" "" "LARS2(NM_015340.4):c.2307C>T (p.S769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45524011C>T" "" "likely benign" "" "0000519877" "0" "30" "3" "45583409" "45583409" "subst" "0.00281166" "01804" "LARS2_000028" "g.45583409G>T" "" "" "" "LARS2(NM_015340.3):c.2493G>T (p.(Glu831Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45541917G>T" "" "likely benign" "" "0000519878" "0" "30" "3" "45588882" "45588882" "subst" "2.87404E-5" "01943" "LARS2_000029" "g.45588882C>A" "" "" "" "LARS2(NM_015340.4):c.2572C>A (p.Q858K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45547390C>A" "" "likely benign" "" "0000519879" "0" "30" "3" "45588912" "45588912" "subst" "0.000691636" "01804" "LARS2_000030" "g.45588912G>A" "" "" "" "LARS2(NM_015340.3):c.2602G>A (p.(Glu868Lys)), LARS2(NM_015340.4):c.2602G>A (p.E868K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45547420G>A" "" "likely benign" "" "0000595885" "21" "70" "3" "45557610" "45557610" "subst" "6.09583E-5" "02476" "LARS2_000006" "g.45557610C>T" "1/30 patients analysed in this study" "" "" "" "" "Germline" "yes" "rs398123036" "0" "" "" "g.45516118C>T" "{CV:55872}" "pathogenic (recessive)" "" "0000595886" "11" "70" "3" "45533250" "45533250" "dup" "0" "02476" "LARS2_000031" "g.45533250dup" "1/30 patients analysed in this study" "" "" "" "" "Germline" "yes" "rs762797278" "0" "" "" "g.45491758dup" "" "pathogenic (recessive)" "" "0000608725" "0" "70" "3" "45530302" "45530302" "subst" "2.03307E-5" "02327" "LARS2_000032" "g.45530302G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45488810G>A" "" "likely pathogenic" "" "0000608726" "0" "30" "3" "45557681" "45557681" "subst" "0" "01943" "LARS2_000033" "g.45557681G>C" "" "" "" "LARS2(NM_015340.4):c.1957G>C (p.V653L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45516189G>C" "" "likely benign" "" "0000639248" "1" "77" "3" "45461162" "45461162" "subst" "0" "00004" "LARS2_000010" "g.45461162A>C" "" "{DB:DVD}, {PMID:Richards 2015:25741868}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.45419670A>C" "" "likely pathogenic" "" "0000639249" "1" "99" "3" "45518000" "45518000" "subst" "8.12982E-6" "00004" "LARS2_000034" "g.45518000C>T" "" "{DB:DVD}, {PMID:Soldà 2016:26657938}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.45476508C>T" "" "pathogenic" "" "0000639250" "1" "99" "3" "45527242" "45527242" "del" "0" "00004" "LARS2_000035" "g.45527242del" "" "{DB:DVD}, {PMID:Pierce 2013:23541342}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.45485750del" "" "pathogenic" "" "0000639251" "1" "99" "3" "45537808" "45537808" "subst" "0.000308604" "00004" "LARS2_000001" "g.45537808C>A" "" "{DB:DVD}, {PMID:Pierce 2013:23541342}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.45496316C>A" "" "pathogenic" "" "0000639252" "1" "99" "3" "45557610" "45557610" "subst" "6.09583E-5" "00004" "LARS2_000006" "g.45557610C>T" "" "{DB:DVD}, {PMID:Pierce 2013:23541342}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.45516118C>T" "" "pathogenic" "" "0000639253" "1" "99" "3" "45557636" "45557636" "subst" "0" "00004" "LARS2_000036" "g.45557636G>A" "" "{DB:DVD}, {PMID:Soldà 2016:26657938}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.45516144G>A" "" "pathogenic" "" "0000651252" "1" "90" "3" "45518000" "45518000" "subst" "8.12982E-6" "03575" "LARS2_000034" "g.45518000C>T" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs864309642}" "Germline" "" "rs864309642" "0" "" "" "g.45476508C>T" "" "pathogenic" "" "0000659748" "11" "70" "3" "45559458" "45559458" "subst" "0" "03640" "LARS2_000037" "g.45559458T>C" "" "" "" "g.134384T>C" "" "Germline" "" "" "0" "" "" "g.45517966T>C" "" "likely pathogenic (recessive)" "" "0000659749" "21" "70" "3" "45517981" "45517981" "subst" "1.62602E-5" "03640" "LARS2_000004" "g.45517981G>A" "" "" "" "g.92907G>A" "" "Germline" "" "" "0" "" "" "g.45476489G>A" "" "likely pathogenic (recessive)" "" "0000676993" "0" "30" "3" "45517980" "45517980" "subst" "0.000113804" "01943" "LARS2_000038" "g.45517980C>T" "" "" "" "LARS2(NM_015340.4):c.879C>T (p.G293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676994" "0" "10" "3" "45527218" "45527218" "subst" "0.913313" "02327" "LARS2_000039" "g.45527218T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000676995" "0" "30" "3" "45533152" "45533152" "subst" "0.000312749" "01943" "LARS2_000040" "g.45533152T>C" "" "" "" "LARS2(NM_015340.4):c.1383T>C (p.I461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676996" "0" "10" "3" "45533224" "45533224" "subst" "0.913475" "02327" "LARS2_000041" "g.45533224G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000676997" "0" "10" "3" "45542083" "45542083" "subst" "0.625599" "02327" "LARS2_000042" "g.45542083T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000676998" "0" "10" "3" "45557707" "45557707" "subst" "0.280128" "02327" "LARS2_000043" "g.45557707G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000676999" "0" "10" "3" "45559519" "45559519" "subst" "0.959719" "02327" "LARS2_000044" "g.45559519T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000677000" "0" "10" "3" "45565554" "45565554" "subst" "0.965501" "02327" "LARS2_000045" "g.45565554A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719440" "0" "30" "3" "45518046" "45518046" "subst" "0.00423781" "01943" "LARS2_000046" "g.45518046G>C" "" "" "" "LARS2(NM_015340.4):c.945G>C (p.S315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801233" "0" "50" "3" "45518035" "45518035" "subst" "8.13114E-6" "01943" "LARS2_000047" "g.45518035G>A" "" "" "" "LARS2(NM_015340.4):c.934G>A (p.V312M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801234" "0" "30" "3" "45533222" "45533222" "subst" "1.62529E-5" "01943" "LARS2_000048" "g.45533222G>A" "" "" "" "LARS2(NM_015340.4):c.1453G>A (p.A485T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801235" "0" "50" "3" "45588912" "45588912" "subst" "0.000691636" "01943" "LARS2_000030" "g.45588912G>A" "" "" "" "LARS2(NM_015340.3):c.2602G>A (p.(Glu868Lys)), LARS2(NM_015340.4):c.2602G>A (p.E868K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928788" "0" "30" "3" "45518046" "45518046" "subst" "0.00423781" "02326" "LARS2_000046" "g.45518046G>C" "" "" "" "LARS2(NM_015340.4):c.945G>C (p.S315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962787" "0" "50" "3" "45458981" "45458981" "subst" "4.06118E-6" "02327" "LARS2_000049" "g.45458981A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975834" "0" "50" "3" "45500343" "45500343" "subst" "0" "01804" "LARS2_000050" "g.45500343A>G" "" "" "" "LARS2(NM_015340.4):c.715A>G (p.(Arg239Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975836" "0" "50" "3" "45588870" "45588870" "subst" "1.64692E-5" "01804" "LARS2_000051" "g.45588870C>A" "" "" "" "LARS2(NM_015340.4):c.2560C>A (p.(Pro854Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033970" "0" "50" "3" "45518000" "45518000" "subst" "8.12982E-6" "02325" "LARS2_000034" "g.45518000C>T" "" "" "" "LARS2(NM_015340.4):c.899C>T (p.T300M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045923" "0" "90" "3" "45559430" "45559430" "subst" "1.62658E-5" "02327" "LARS2_000052" "g.45559430C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001051290" "0" "50" "3" "45436134" "45436134" "subst" "4.06197E-6" "01804" "LARS2_000053" "g.45436134G>A" "" "" "" "LARS2(NM_015340.4):c.189G>A (p.(Trp63*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051291" "0" "50" "3" "45557735" "45557735" "subst" "1.62743E-5" "01804" "LARS2_000054" "g.45557735C>T" "" "" "" "LARS2(NM_015340.4):c.2011C>T (p.(Pro671Ser))" "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 LARS2 ## Count = 64 "{{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}}" "0000086579" "00010974" "70" "1565" "0" "1565" "0" "c.1565C>A" "r.(1565c>a)" "p.(Thr522Asn)" "14" "0000086580" "00010974" "70" "351" "0" "351" "0" "c.351G>C" "r.(351g>c)" "p.(Met117Ile)" "4" "0000086581" "00010974" "70" "1565" "0" "1565" "0" "c.1565C>A" "r.(1565c>a)" "p.(Thr522Asn)" "14" "0000129049" "00010974" "70" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Arg228His)" "8" "0000129050" "00010974" "70" "880" "0" "880" "0" "c.880G>A" "r.(?)" "p.(Glu294Lys)" "10" "0000140433" "00010974" "90" "1358" "0" "1358" "0" "c.1358G>A" "r.(?)" "p.(Arg453Gln)" "13" "0000140434" "00010974" "90" "1886" "0" "1886" "0" "c.1886C>T" "r.(?)" "p.(Thr629Met)" "17" "0000290878" "00010974" "30" "2211" "0" "2211" "0" "c.2211T>C" "r.(?)" "p.(Ser737=)" "" "0000290879" "00010974" "30" "255" "0" "255" "0" "c.255C>T" "r.(?)" "p.(Tyr85=)" "" "0000343607" "00010974" "50" "457" "0" "457" "0" "c.457A>C" "r.(?)" "p.(Asn153His)" "" "0000346450" "00010974" "10" "972" "0" "972" "0" "c.972C>A" "r.(?)" "p.(His324Gln)" "" "0000349547" "00010974" "90" "1565" "0" "1565" "0" "c.1565C>A" "r.(?)" "p.(Thr522Asn)" "" "0000350137" "00010974" "50" "1670" "0" "1670" "0" "c.1670A>G" "r.(?)" "p.(Tyr557Cys)" "" "0000519861" "00010974" "50" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Arg113Gln)" "" "0000519862" "00010974" "50" "362" "0" "362" "0" "c.362A>G" "r.(?)" "p.(Gln121Arg)" "" "0000519863" "00010974" "50" "488" "0" "488" "0" "c.488G>A" "r.(?)" "p.(Arg163His)" "" "0000519864" "00010974" "50" "937" "0" "937" "0" "c.937G>C" "r.(?)" "p.(Ala313Pro)" "" "0000519865" "00010974" "50" "1018" "0" "1018" "0" "c.1018G>A" "r.(?)" "p.(Asp340Asn)" "" "0000519867" "00010974" "30" "1692" "0" "1692" "0" "c.1692C>T" "r.(?)" "p.(Ala564=)" "" "0000519868" "00010974" "50" "1753" "0" "1753" "0" "c.1753A>G" "r.(?)" "p.(Lys585Glu)" "" "0000519869" "00010974" "30" "1938" "0" "1938" "0" "c.1938C>T" "r.(?)" "p.(Asn646=)" "" "0000519870" "00010974" "30" "1947" "0" "1947" "0" "c.1947C>A" "r.(?)" "p.(Asp649Glu)" "" "0000519871" "00010974" "30" "1970" "0" "1970" "0" "c.1970A>G" "r.(?)" "p.(Tyr657Cys)" "" "0000519872" "00010974" "50" "2060" "0" "2060" "0" "c.2060G>A" "r.(?)" "p.(Gly687Glu)" "" "0000519873" "00010974" "50" "2114" "0" "2114" "0" "c.2114C>A" "r.(?)" "p.(Ala705Asp)" "" "0000519874" "00010974" "30" "2168" "0" "2168" "0" "c.2168C>A" "r.(?)" "p.(Ala723Asp)" "" "0000519875" "00010974" "30" "2172" "0" "2172" "0" "c.2172G>T" "r.(?)" "p.(Glu724Asp)" "" "0000519876" "00010974" "30" "2307" "0" "2307" "0" "c.2307C>T" "r.(?)" "p.(Ser769=)" "" "0000519877" "00010974" "30" "2493" "0" "2493" "0" "c.2493G>T" "r.(?)" "p.(Glu831Asp)" "" "0000519878" "00010974" "30" "2572" "0" "2572" "0" "c.2572C>A" "r.(?)" "p.(Gln858Lys)" "" "0000519879" "00010974" "30" "2602" "0" "2602" "0" "c.2602G>A" "r.(?)" "p.(Glu868Lys)" "" "0000595885" "00010974" "70" "1886" "0" "1886" "0" "c.1886C>T" "r.(?)" "p.(Thr629Met)" "17" "0000595886" "00010974" "70" "1481" "0" "1481" "0" "c.1481dup" "r.(?)" "p.(Leu495Thrfs*31)" "13" "0000608725" "00010974" "70" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Glu413Lys)" "" "0000608726" "00010974" "30" "1957" "0" "1957" "0" "c.1957G>C" "r.(?)" "p.(Val653Leu)" "" "0000639248" "00010974" "77" "457" "0" "457" "0" "c.457A>C" "r.(?)" "p.(Asn153His)" "5" "0000639249" "00010974" "99" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Thr300Met)" "9" "0000639250" "00010974" "99" "1077" "0" "1077" "0" "c.1077del" "r.(?)" "p.(Ile360Phefs*15)" "10" "0000639251" "00010974" "99" "1565" "0" "1565" "0" "c.1565C>A" "r.(?)" "p.(Thr522Asn)" "13" "0000639252" "00010974" "99" "1886" "0" "1886" "0" "c.1886C>T" "r.(?)" "p.(Thr629Met)" "16" "0000639253" "00010974" "99" "1912" "0" "1912" "0" "c.1912G>A" "r.(?)" "p.(Glu638Lys)" "16" "0000651252" "00010974" "90" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Thr300Met)" "" "0000659748" "00010974" "70" "2108" "0" "2108" "0" "c.2108T>C" "r.(?)" "p.(Ile703Thr)" "" "0000659749" "00010974" "70" "880" "0" "880" "0" "c.880G>A" "r.(?)" "p.(Glu294Lys)" "" "0000676993" "00010974" "30" "879" "0" "879" "0" "c.879C>T" "r.(?)" "p.(Gly293=)" "" "0000676994" "00010974" "10" "1053" "0" "1053" "0" "c.1053T>C" "r.(?)" "p.(Leu351=)" "" "0000676995" "00010974" "30" "1383" "0" "1383" "0" "c.1383T>C" "r.(?)" "p.(Ile461=)" "" "0000676996" "00010974" "10" "1455" "0" "1455" "0" "c.1455G>A" "r.(?)" "p.(Ala485=)" "" "0000676997" "00010974" "10" "1760" "12" "1760" "12" "c.1760+12T>C" "r.(=)" "p.(=)" "" "0000676998" "00010974" "10" "1983" "0" "1983" "0" "c.1983G>A" "r.(?)" "p.(Thr661=)" "" "0000676999" "00010974" "10" "2169" "0" "2169" "0" "c.2169T>C" "r.(?)" "p.(Ala723=)" "" "0000677000" "00010974" "10" "2358" "0" "2358" "0" "c.2358A>G" "r.(?)" "p.(Val786=)" "" "0000719440" "00010974" "30" "945" "0" "945" "0" "c.945G>C" "r.(?)" "p.(Ser315=)" "" "0000801233" "00010974" "50" "934" "0" "934" "0" "c.934G>A" "r.(?)" "p.(Val312Met)" "" "0000801234" "00010974" "30" "1453" "0" "1453" "0" "c.1453G>A" "r.(?)" "p.(Ala485Thr)" "" "0000801235" "00010974" "50" "2602" "0" "2602" "0" "c.2602G>A" "r.(?)" "p.(Glu868Lys)" "" "0000928788" "00010974" "30" "945" "0" "945" "0" "c.945G>C" "r.(?)" "p.(Ser315=)" "" "0000962787" "00010974" "50" "371" "0" "371" "0" "c.371A>G" "r.(?)" "p.(Asn124Ser)" "" "0000975834" "00010974" "50" "715" "0" "715" "0" "c.715A>G" "r.(?)" "p.(Arg239Gly)" "" "0000975836" "00010974" "50" "2560" "0" "2560" "0" "c.2560C>A" "r.(?)" "p.(Pro854Thr)" "" "0001033970" "00010974" "50" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Thr300Met)" "" "0001045923" "00010974" "90" "2080" "0" "2080" "0" "c.2080C>T" "r.(?)" "p.(Arg694*)" "" "0001051290" "00010974" "50" "189" "0" "189" "0" "c.189G>A" "r.(?)" "p.(Trp63*)" "" "0001051291" "00010974" "50" "2011" "0" "2011" "0" "c.2011C>T" "r.(?)" "p.(Pro671Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000056338" "0000086579" "0000056339" "0000086579" "0000056340" "0000086580" "0000056340" "0000086581" "0000056341" "0000086580" "0000056341" "0000086581" "0000080139" "0000129049" "0000080139" "0000129050" "0000087265" "0000140433" "0000087265" "0000140434" "0000265273" "0000595885" "0000265273" "0000595886" "0000283506" "0000639248" "0000283507" "0000639249" "0000283508" "0000639250" "0000283509" "0000639251" "0000283510" "0000639252" "0000283511" "0000639253" "0000294563" "0000651252" "0000297131" "0000659748" "0000297131" "0000659749"