### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HARS2) # 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}}" "HARS2" "histidyl-tRNA synthetase 2, mitochondrial" "5" "q31.3" "unknown" "NG_021415.1" "UD_132085290545" "" "http://www.LOVD.nl/HARS2" "" "1" "4817" "23438" "600783" "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/HARS2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-11-13 16:01:17" "00000" "2025-07-08 13:22:38" ## 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}}" "00024198" "HARS2" "transcript variant 1" "002" "NM_012208.3" "" "NP_036340.1" "" "" "" "-223" "2287" "1521" "140071011" "140078903" "00006" "2016-11-13 16:00:04" "" "" ## 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" "00616" "PRLTS" "Perrault syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-06 10:12:39" "03793" "PRLTS2" "Perrault syndrome, type 2 (PRLTS2)" "AR" "614926" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HARS2" "00616" "HARS2" "03793" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "" "00087124" "" "" "" "1" "" "00006" "{PMID:Lerat 2016:27650058}, {DOI:Lerat 2016:10.1002/humu.23120}" "" "" "yes" "" "" "0" "" "" "Morocco" "" "00087125" "" "" "" "1" "" "00006" "{PMID:Lerat 2016:27650058}, {DOI:Lerat 2016:10.1002/humu.23120}" "" "" "yes" "" "" "0" "" "" "Morocco" "" "00282827" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00282828" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00282829" "" "" "" "1" "" "00004" "{PMID:Pierce 2011:21464306}, {PMID:Pallister 1979:517579}" "" "" "" "" "" "0" "" "" "" "" "00282830" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00282831" "" "" "" "1" "" "00004" "{PMID:Pierce 2011:21464306}" "" "" "" "" "" "0" "" "" "" "" "00380580" "" "" "" "1" "" "00006" "{PMID:Souissi 2021:34406847}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Lebanon" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" "00087124" "00616" "00087125" "00616" "00282829" "00616" "00282831" "00616" "00380580" "00616" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00616, 03793 ## 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}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000066705" "00616" "00087124" "00006" "Familial, autosomal recessive" "" "see paper;, ..., profound deafness, amenorrhea II (onset 25y), no neurological symptoms, hypothyroidism" "<03y" "" "" "" "" "" "" "" "" "" "" "0000066706" "00616" "00087125" "00006" "Familial, autosomal recessive" "" "see paper;, ..., profound deafness, amenorrhea II (onset 26y), no neurological symptoms, hypothyroidism" "" "" "" "" "" "" "" "" "" "" "" "0000217855" "00616" "00282829" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Perrault syndrome" "" "0000217856" "00616" "00282831" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Perrault syndrome" "" "0000274432" "00616" "00380580" "00006" "Familial, autosomal recessive" "31y" "see paper; ..." "" "" "" "" "" "" "" "" "PRLTS2" "Perrault syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "0000087263" "00087124" "1" "00006" "00006" "2016-11-13 16:07:00" "" "" "SEQ" "DNA" "" "" "0000087264" "00087125" "1" "00006" "00006" "2016-11-13 16:09:59" "" "" "SEQ" "DNA" "" "" "0000283977" "00282827" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283978" "00282828" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283979" "00282829" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283980" "00282830" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283981" "00282831" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000381793" "00380580" "1" "00006" "00006" "2021-08-19 09:08:11" "" "" "SEQ;SEQ-NG" "DNA" "" "36-gene panel hearing loss" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000087263" "HARS2" "0000087264" "HARS2" "0000283977" "HARS2" "0000283978" "HARS2" "0000283979" "HARS2" "0000283980" "HARS2" "0000283981" "HARS2" ## 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 = 103 "{{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" "" "0000140431" "3" "90" "5" "140076804" "140076804" "subst" "4.06078E-6" "00006" "HARS2_000001" "g.140076804A>G" "" "{PMID:Lerat 2016:27650058}, {DOI:Lerat 2016:10.1002/humu.23120}" "" "" "" "Germline" "" "" "0" "" "" "g.140697219A>G" "" "pathogenic" "" "0000140432" "3" "90" "5" "140076804" "140076804" "subst" "4.06078E-6" "00006" "HARS2_000001" "g.140076804A>G" "" "{PMID:Lerat 2016:27650058}, {DOI:Lerat 2016:10.1002/humu.23120}" "" "" "" "Germline" "" "rs537198287" "0" "" "" "g.140697219A>G" "" "pathogenic" "" "0000246384" "0" "30" "5" "140057256" "140057256" "subst" "1.21821E-5" "02330" "HARS_000003" "g.140057256A>G" "" "" "" "HARS1(NM_002109.6):c.713T>C (p.V238A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140677671A>G" "" "likely benign" "" "0000255368" "0" "70" "5" "140062787" "140062787" "del" "4.06121E-6" "01943" "HARS_000014" "g.140062787del" "" "" "" "HARS(NM_002109.6):c.198delT (p.R68Gfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140683202del" "" "likely pathogenic" "" "0000277542" "0" "50" "5" "140056377" "140056377" "subst" "0" "02330" "HARS_000011" "g.140056377C>T" "" "" "" "HARS1(NM_002109.6):c.1056G>A (p.L352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140676792C>T" "" "VUS" "" "0000277543" "0" "50" "5" "140054604" "140054604" "subst" "0" "02330" "HARS_000009" "g.140054604T>C" "" "" "" "HARS1(NM_002109.6):c.1309A>G (p.K437E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140675019T>C" "" "VUS" "" "0000277544" "0" "10" "5" "140054257" "140054257" "subst" "0.237643" "02330" "HARS_000007" "g.140054257C>T" "" "" "" "HARS1(NM_002109.6):c.1458+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140674672C>T" "" "benign" "" "0000277545" "0" "10" "5" "140070876" "140070876" "subst" "0.00540017" "02330" "HARS_000006" "g.140070876G>T" "" "" "" "HARS(NM_001258040.1):c.14C>A (p.(Ala5Glu)), HARS(NM_002109.6):c.14C>A (p.A5E), HARS1(NM_002109.6):c.14C>A (p.A5E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140691291G>T" "" "benign" "" "0000277546" "0" "10" "5" "140062819" "140062819" "subst" "0.000980312" "02330" "HARS_000015" "g.140062819C>G" "" "" "" "HARS1(NM_002109.6):c.181-15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140683234C>G" "" "benign" "" "0000277547" "0" "10" "5" "140062751" "140062751" "subst" "0.00145783" "02330" "HARS_000016" "g.140062751G>A" "" "" "" "HARS1(NM_002109.6):c.234C>T (p.D78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140683166G>A" "" "benign" "" "0000277548" "0" "10" "5" "140057535" "140057535" "subst" "0.0799795" "02330" "HARS_000012" "g.140057535G>A" "" "" "" "HARS1(NM_002109.6):c.588C>T (p.C196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140677950G>A" "" "benign" "" "0000281227" "0" "10" "5" "140054257" "140054257" "subst" "0.237643" "02325" "HARS_000007" "g.140054257C>T" "" "" "" "HARS1(NM_002109.6):c.1458+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140674672C>T" "" "benign" "" "0000281228" "0" "10" "5" "140073883" "140073883" "subst" "0.237671" "02325" "HARS2_000002" "g.140073883G>A" "" "" "" "HARS2(NM_012208.4):c.399+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140694298G>A" "" "benign" "" "0000288932" "0" "90" "5" "140056238" "140056238" "subst" "0" "01943" "HARS_000010" "g.140056238C>T" "" "" "" "HARS(NM_002109.6):c.1194+1G>A, HARS1(NM_002109.6):c.1194+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140676653C>T" "" "pathogenic" "" "0000288933" "0" "50" "5" "140054277" "140054277" "subst" "0.000629672" "01943" "HARS_000008" "g.140054277G>A" "" "" "" "HARS(NM_002109.6):c.1445C>T (p.T482M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140674692G>A" "" "VUS" "" "0000288934" "0" "10" "5" "140070876" "140070876" "subst" "0.00540017" "01943" "HARS_000006" "g.140070876G>T" "" "" "" "HARS(NM_001258040.1):c.14C>A (p.(Ala5Glu)), HARS(NM_002109.6):c.14C>A (p.A5E), HARS1(NM_002109.6):c.14C>A (p.A5E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140691291G>T" "" "benign" "" "0000288935" "0" "50" "5" "140070441" "140070441" "subst" "0" "01943" "HARS_000019" "g.140070441T>G" "" "" "" "HARS(NM_002109.6):c.179A>C (p.K60T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140690856T>G" "" "VUS" "" "0000288937" "0" "70" "5" "140062789" "140062791" "del" "4.06134E-6" "01943" "HARS_000017" "g.140062789_140062791del" "" "" "" "HARS(NM_002109.6):c.194_196delATA (p.Y65_S66delinsC)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140683204_140683206del" "" "likely pathogenic" "" "0000288938" "0" "50" "5" "140059387" "140059387" "subst" "0.000253349" "01943" "HARS_000013" "g.140059387G>A" "" "" "" "HARS(NM_002109.6):c.382C>T (p.R128C), HARS1(NM_002109.6):c.382C>T (p.R128C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140679802G>A" "" "VUS" "" "0000288939" "0" "50" "5" "140070850" "140070850" "subst" "0.000975715" "01943" "HARS_000020" "g.140070850G>T" "" "" "" "HARS(NM_002109.6):c.40C>A (p.Q14K), HARS1(NM_002109.6):c.40C>A (p.Q14K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140691265G>T" "" "VUS" "" "0000288940" "0" "50" "5" "140076833" "140076833" "subst" "0.000101518" "01943" "HARS2_000006" "g.140076833C>G" "" "" "" "HARS2(NM_012208.3):c.1039C>G (p.Q347E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140697248C>G" "" "VUS" "" "0000288941" "0" "30" "5" "140077210" "140077210" "subst" "7.71523E-5" "01943" "HARS2_000003" "g.140077210G>C" "" "" "" "HARS2(NM_001278731.1):c.1179G>C (p.(Gln393His)), HARS2(NM_012208.3):c.1254G>C (p.Q418H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140697625G>C" "" "likely benign" "" "0000288942" "0" "30" "5" "140073790" "140073790" "subst" "0.00222114" "01943" "HARS2_000004" "g.140073790T>C" "" "" "" "HARS2(NM_012208.3):c.324T>C (p.Y108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140694205T>C" "" "likely benign" "" "0000288943" "0" "50" "5" "140076750" "140076750" "subst" "0.000198996" "01943" "HARS2_000005" "g.140076750T>C" "" "" "" "HARS2(NM_012208.3):c.956T>C (p.I319T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140697165T>C" "" "VUS" "" "0000330564" "0" "30" "5" "140077210" "140077210" "subst" "7.71523E-5" "01804" "HARS2_000003" "g.140077210G>C" "" "" "" "HARS2(NM_001278731.1):c.1179G>C (p.(Gln393His)), HARS2(NM_012208.3):c.1254G>C (p.Q418H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140697625G>C" "" "likely benign" "" "0000524442" "0" "30" "5" "140050894" "140050894" "subst" "0" "01804" "DND1_000001" "g.140050894G>C" "" "" "" "DND1(NM_194249.2):c.1046C>G (p.(Thr349Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140671309G>C" "" "likely benign" "" "0000524443" "0" "30" "5" "140050907" "140050907" "subst" "0" "01804" "DND1_000002" "g.140050907C>T" "" "" "" "DND1(NM_194249.2):c.1033G>A (p.(Ala345Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140671322C>T" "" "likely benign" "" "0000524445" "0" "30" "5" "140051086" "140051086" "subst" "0" "01804" "DND1_000004" "g.140051086C>T" "" "" "" "DND1(NM_194249.2):c.854G>A (p.(Trp285Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140671501C>T" "" "likely benign" "" "0000524446" "0" "30" "5" "140054712" "140054712" "subst" "8.53513E-5" "01943" "DND1_000005" "g.140054712C>T" "" "" "" "HARS(NM_002109.6):c.1201G>A (p.E401K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140675127C>T" "" "likely benign" "" "0000524447" "0" "50" "5" "140056277" "140056277" "subst" "0" "01943" "DND1_000006" "g.140056277C>A" "" "" "" "HARS(NM_002109.6):c.1156G>T (p.V386L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140676692C>A" "" "VUS" "" "0000524448" "0" "10" "5" "140056306" "140056306" "subst" "0.00119388" "02330" "HARS_000002" "g.140056306T>C" "" "" "" "HARS1(NM_002109.6):c.1127A>G (p.K376R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140676721T>C" "" "benign" "" "0000524449" "0" "10" "5" "140056555" "140056555" "subst" "0.0073266" "02330" "DND1_000007" "g.140056555C>T" "" "" "" "HARS1(NM_002109.6):c.951+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140676970C>T" "" "benign" "" "0000524450" "0" "10" "5" "140056622" "140056622" "subst" "6.50137E-5" "02330" "DND1_000008" "g.140056622G>A" "" "" "" "HARS1(NM_002109.6):c.903C>T (p.D301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140677037G>A" "" "benign" "" "0000524451" "0" "30" "5" "140056691" "140056691" "subst" "0" "01943" "DND1_000009" "g.140056691G>T" "" "" "" "HARS(NM_002109.6):c.834C>A (p.S278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140677106G>T" "" "likely benign" "" "0000524453" "0" "30" "5" "140057022" "140057022" "subst" "0.00086534" "02330" "DND1_000011" "g.140057022C>T" "" "" "" "HARS1(NM_001258041.3):c.670-17G>A, HARS1(NM_002109.6):c.730-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140677437C>T" "" "likely benign" "" "0000524454" "0" "10" "5" "140057509" "140057509" "subst" "0.00288841" "02330" "DND1_000012" "g.140057509C>T" "" "" "" "HARS(NM_001258041.2):c.554G>A (p.G185D), HARS1(NM_002109.6):c.614G>A (p.G205D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140677924C>T" "" "benign" "" "0000524455" "0" "50" "5" "140057509" "140057509" "subst" "0.00288841" "01943" "DND1_000012" "g.140057509C>T" "" "" "" "HARS(NM_001258041.2):c.554G>A (p.G185D), HARS1(NM_002109.6):c.614G>A (p.G205D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140677924C>T" "" "VUS" "" "0000524457" "0" "50" "5" "140059387" "140059387" "subst" "0.000253349" "02330" "HARS_000013" "g.140059387G>A" "" "" "" "HARS(NM_002109.6):c.382C>T (p.R128C), HARS1(NM_002109.6):c.382C>T (p.R128C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140679802G>A" "" "VUS" "" "0000524458" "0" "50" "5" "140059429" "140059429" "subst" "0" "02330" "HARS2_000008" "g.140059429T>C" "" "" "" "HARS1(NM_002109.6):c.340A>G (p.I114V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140679844T>C" "" "VUS" "" "0000524459" "0" "30" "5" "140062739" "140062739" "subst" "4.06075E-6" "02330" "HARS2_000009" "g.140062739A>C" "" "" "" "HARS1(NM_002109.6):c.246T>G (p.R82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140683154A>C" "" "likely benign" "" "0000524460" "0" "70" "5" "140062794" "140062794" "dup" "0" "01943" "HARS2_000010" "g.140062794dup" "" "" "" "HARS(NM_002109.6):c.191dupA (p.D64Efs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140683209dup" "" "likely pathogenic" "" "0000524461" "0" "50" "5" "140070796" "140070796" "subst" "2.12668E-5" "01943" "HARS2_000011" "g.140070796T>G" "" "" "" "HARS(NM_002109.6):c.90+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140691211T>G" "" "VUS" "" "0000524462" "0" "30" "5" "140070876" "140070876" "subst" "0.00540017" "01804" "HARS_000006" "g.140070876G>T" "" "" "" "HARS(NM_001258040.1):c.14C>A (p.(Ala5Glu)), HARS(NM_002109.6):c.14C>A (p.A5E), HARS1(NM_002109.6):c.14C>A (p.A5E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140691291G>T" "" "likely benign" "" "0000524463" "0" "10" "5" "140070895" "140070895" "subst" "0" "02330" "HARS2_000012" "g.140070895C>A" "" "" "" "HARS1(NM_002109.6):c.-6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140691310C>A" "" "benign" "" "0000524464" "0" "30" "5" "140071240" "140071240" "subst" "0.00290808" "01943" "HARS2_000013" "g.140071240C>G" "" "" "" "HARS2(NM_012208.3):c.7C>G (p.L3V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140691655C>G" "" "likely benign" "" "0000524466" "0" "50" "5" "140075106" "140075106" "subst" "2.43633E-5" "02327" "ZMAT2_000001" "g.140075106G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140695521G>A" "" "VUS" "" "0000524467" "0" "90" "5" "140075182" "140075182" "dup" "0" "01943" "ZMAT2_000002" "g.140075182dup" "" "" "" "HARS2(NM_012208.3):c.489dupC (p.I164Hfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140695597dup" "" "pathogenic" "" "0000524468" "0" "30" "5" "140075361" "140075361" "subst" "3.24868E-5" "01943" "ZMAT2_000003" "g.140075361C>T" "" "" "" "HARS2(NM_012208.3):c.564C>T (p.P188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140695776C>T" "" "likely benign" "" "0000524469" "0" "50" "5" "140076899" "140076899" "subst" "0.000653802" "01943" "HARS2_000007" "g.140076899G>C" "" "" "" "HARS2(NM_012208.3):c.1105G>C (p.G369R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140697314G>C" "" "VUS" "" "0000524470" "0" "50" "5" "140077623" "140077623" "subst" "0.000572584" "01943" "ZMAT2_000004" "g.140077623A>G" "" "" "" "HARS2(NM_012208.3):c.1421A>G (p.E474G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140698038A>G" "" "VUS" "" "0000524471" "0" "70" "5" "140077641" "140077641" "subst" "7.71611E-5" "02327" "ZMAT2_000005" "g.140077641G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140698056G>A" "" "likely pathogenic" "" "0000609525" "0" "50" "5" "140057256" "140057256" "subst" "1.21821E-5" "02327" "HARS_000003" "g.140057256A>G" "" "" "" "HARS1(NM_002109.6):c.713T>C (p.V238A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140677671A>G" "" "VUS" "" "0000609526" "0" "70" "5" "140058699" "140058699" "subst" "8.12499E-5" "01943" "HARS_000005" "g.140058699C>T" "" "" "" "HARS(NM_002109.4):c.410G>A (p.(Arg137Gln)), HARS(NM_002109.6):c.410G>A (p.R137Q), HARS1(NM_002109.6):c.410G>A (p.R137Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140679114C>T" "" "likely pathogenic" "" "0000609527" "0" "30" "5" "140062688" "140062688" "subst" "0" "01943" "HARS2_000014" "g.140062688T>C" "" "" "" "HARS(NM_001258041.2):c.297A>G (p.L99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140683103T>C" "" "likely benign" "" "0000609528" "0" "50" "5" "140073855" "140073855" "subst" "0" "02327" "ZMAT2_000007" "g.140073855A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140694270A>G" "" "VUS" "" "0000609529" "0" "30" "5" "140075410" "140075410" "subst" "4.06055E-6" "01943" "ZMAT2_000008" "g.140075410T>C" "" "" "" "HARS2(NM_012208.3):c.613T>C (p.L205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140695825T>C" "" "likely benign" "" "0000609530" "0" "50" "5" "140076811" "140076811" "subst" "1.2182E-5" "02327" "ZMAT2_000009" "g.140076811A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140697226A>G" "" "VUS" "" "0000609531" "0" "30" "5" "140077237" "140077237" "subst" "7.30917E-5" "01943" "ZMAT2_000010" "g.140077237G>A" "" "" "" "HARS2(NM_012208.3):c.1281G>A (p.K427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140697652G>A" "" "likely benign" "" "0000621490" "0" "50" "5" "140070801" "140070801" "subst" "0" "02330" "HARS2_000016" "g.140070801A>C" "" "" "" "HARS1(NM_001258041.3):c.89T>G (p.L30R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140691216A>C" "" "VUS" "" "0000621491" "0" "50" "5" "140073833" "140073833" "subst" "0" "01943" "ZMAT2_000006" "g.140073833G>A" "" "" "" "HARS2(NM_001363535.1):c.385G>A (p.G129R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140694248G>A" "" "VUS" "" "0000639719" "1" "77" "5" "140073239" "140073239" "subst" "6.09097E-5" "00004" "HARS2_000017" "g.140073239A>G" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.140693654A>G" "" "likely pathogenic" "" "0000639720" "1" "77" "5" "140075141" "140075141" "subst" "4.87266E-5" "00004" "HARS2_000018" "g.140075141C>T" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.140695556C>T" "" "likely pathogenic" "" "0000639721" "1" "99" "5" "140075395" "140075395" "subst" "0" "00004" "HARS2_000019" "g.140075395C>G" "" "{DB:DVD}, {PMID:Pierce 2011:21464306}, {PMID:Pallister 1979:517579}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.140695810C>G" "" "pathogenic" "" "0000639722" "1" "99" "5" "140075431" "140075431" "subst" "4.06065E-6" "00004" "HARS2_000020" "g.140075431G>A" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.140695846G>A" "" "pathogenic" "" "0000639723" "1" "99" "5" "140076896" "140076896" "subst" "8.12189E-6" "00004" "HARS2_000021" "g.140076896G>T" "" "{DB:DVD}, {PMID:Pierce 2011:21464306}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.140697311G>T" "" "pathogenic" "" "0000655303" "0" "10" "5" "140054652" "140054652" "subst" "0.000808444" "02330" "DND1_000013" "g.140054652G>C" "" "" "" "HARS1(NM_001258041.3):c.1201C>G (p.L401V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140675067G>C" "" "benign" "" "0000655304" "0" "30" "5" "140057509" "140057509" "subst" "0.00288841" "02327" "DND1_000012" "g.140057509C>T" "" "" "" "HARS(NM_001258041.2):c.554G>A (p.G185D), HARS1(NM_002109.6):c.614G>A (p.G205D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140677924C>T" "" "likely benign" "" "0000655305" "0" "10" "5" "140073883" "140073883" "subst" "0.237671" "02327" "HARS2_000002" "g.140073883G>A" "" "" "" "HARS2(NM_012208.4):c.399+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140694298G>A" "" "benign" "" "0000677413" "0" "30" "5" "140054276" "140054276" "subst" "2.84366E-5" "01943" "DND1_000014" "g.140054276C>T" "" "" "" "HARS(NM_001258041.2):c.1386G>A (p.T462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677414" "0" "50" "5" "140056992" "140056992" "subst" "4.06114E-6" "01943" "DND1_000015" "g.140056992T>A" "" "" "" "HARS(NM_001258041.2):c.683A>T (p.E228V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677415" "0" "50" "5" "140058672" "140058674" "dup" "0" "01943" "HARS2_000022" "g.140058672_140058674dup" "" "" "" "HARS(NM_001258041.2):c.437_439dupACA (p.N146dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689441" "0" "50" "5" "140056935" "140056935" "subst" "3.2491E-5" "02330" "DND1_000016" "g.140056935A>G" "" "" "" "HARS1(NM_001258041.3):c.740T>C (p.I247T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720216" "0" "50" "5" "140062767" "140062767" "subst" "3.65473E-5" "02329" "HARS2_000023" "g.140062767C>T" "" "" "" "HARS(NM_001258041.2):c.218G>A (p.R73H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720217" "0" "50" "5" "140062782" "140062782" "subst" "6.49767E-5" "02329" "HARS2_000015" "g.140062782C>T" "" "" "" "HARS(NM_001258041.2):c.203G>A (p.R68Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000795357" "3" "70" "5" "140073596" "140073596" "subst" "8.12117E-6" "00006" "HARS2_000024" "g.140073596G>A" "" "{PMID:Souissi 2021:34406847}" "" "" "" "Germline" "" "rs369075888" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000801922" "0" "10" "5" "140054717" "140054717" "subst" "0.00103274" "02330" "HARS_000026" "g.140054717G>A" "" "" "" "HARS1(NM_001258041.3):c.1136C>T (p.A379V), HARS1(NM_002109.6):c.1196C>T (p.A399V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000801923" "0" "50" "5" "140062783" "140062783" "subst" "1.62459E-5" "01943" "HARS_000027" "g.140062783G>A" "" "" "" "HARS(NM_001258041.2):c.202C>T (p.R68W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850802" "0" "50" "5" "140058699" "140058699" "subst" "8.12499E-5" "02327" "HARS_000005" "g.140058699C>T" "" "" "" "HARS(NM_002109.4):c.410G>A (p.(Arg137Gln)), HARS(NM_002109.6):c.410G>A (p.R137Q), HARS1(NM_002109.6):c.410G>A (p.R137Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850804" "0" "50" "5" "140073804" "140073804" "subst" "2.43635E-5" "01943" "ZMAT2_000011" "g.140073804G>T" "" "" "" "HARS2(NM_001363535.1):c.356G>T (p.G119V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859779" "0" "50" "5" "140056238" "140056238" "subst" "0" "02327" "HARS_000010" "g.140056238C>T" "" "" "" "HARS(NM_002109.6):c.1194+1G>A, HARS1(NM_002109.6):c.1194+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859780" "0" "70" "5" "140058699" "140058699" "subst" "8.12499E-5" "02330" "HARS_000005" "g.140058699C>T" "" "" "" "HARS(NM_002109.4):c.410G>A (p.(Arg137Gln)), HARS(NM_002109.6):c.410G>A (p.R137Q), HARS1(NM_002109.6):c.410G>A (p.R137Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000859781" "0" "30" "5" "140073084" "140073084" "subst" "0.000357535" "01943" "HARS2_000025" "g.140073084G>A" "" "" "" "HARS2(NM_001363535.2):c.117G>A (p.(Glu39=)), HARS2(NM_012208.3):c.109-92G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859782" "0" "30" "5" "140075089" "140075089" "subst" "0" "01943" "ZMAT2_000012" "g.140075089T>C" "" "" "" "HARS2(NM_001363535.1):c.418-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859783" "0" "30" "5" "140078131" "140078131" "subst" "8.93372E-5" "01943" "ZMAT2_000013" "g.140078131G>T" "" "" "" "HARS2(NM_012208.3):c.1515G>T (p.E505D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886643" "0" "90" "5" "140058699" "140058699" "subst" "8.12499E-5" "02326" "HARS_000005" "g.140058699C>T" "" "" "" "HARS(NM_002109.4):c.410G>A (p.(Arg137Gln)), HARS(NM_002109.6):c.410G>A (p.R137Q), HARS1(NM_002109.6):c.410G>A (p.R137Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886644" "0" "50" "5" "140062741" "140062741" "subst" "0" "02330" "HARS2_000026" "g.140062741G>A" "" "" "" "HARS1(NM_001258041.3):c.244C>T (p.R82C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886645" "0" "30" "5" "140062784" "140062784" "subst" "0" "02330" "HARS2_000027" "g.140062784G>A" "" "" "" "HARS1(NM_001258041.3):c.201C>T (p.P67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886646" "0" "10" "5" "140070850" "140070850" "subst" "0.000975715" "02330" "HARS_000020" "g.140070850G>T" "" "" "" "HARS(NM_002109.6):c.40C>A (p.Q14K), HARS1(NM_002109.6):c.40C>A (p.Q14K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886647" "0" "30" "5" "140075434" "140075434" "subst" "2.43641E-5" "02325" "ZMAT2_000014" "g.140075434A>T" "" "" "" "HARS2(NM_012208.4):c.633+4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912246" "0" "10" "5" "140054717" "140054717" "subst" "0.00103274" "02326" "HARS_000026" "g.140054717G>A" "" "" "" "HARS1(NM_001258041.3):c.1136C>T (p.A379V), HARS1(NM_002109.6):c.1196C>T (p.A399V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924253" "0" "50" "5" "140053886" "140053886" "subst" "0" "02325" "DND1_000017" "g.140053886C>T" "" "" "" "HARS1(NM_002109.6):c.1486G>A (p.E496K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929021" "0" "30" "5" "140057357" "140057357" "subst" "1.62451E-5" "02330" "DND1_000018" "g.140057357T>C" "" "" "" "HARS1(NM_002109.6):c.631-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963462" "0" "30" "5" "140057022" "140057022" "subst" "0.00086534" "02326" "DND1_000011" "g.140057022C>T" "" "" "" "HARS1(NM_001258041.3):c.670-17G>A, HARS1(NM_002109.6):c.730-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963463" "0" "30" "5" "140057501" "140057501" "subst" "4.06227E-6" "02330" "DND1_000020" "g.140057501G>A" "" "" "" "HARS1(NM_002109.6):c.622C>T (p.L208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976597" "0" "50" "5" "140056484" "140056484" "subst" "1.6282E-5" "01804" "DND1_000021" "g.140056484G>T" "" "" "" "HARS(NM_002109.6):c.952-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994696" "0" "50" "5" "140052341" "140052341" "subst" "0" "01804" "DND1_000022" "g.140052341C>A" "" "" "" "DND1(NM_194249.2):c.293G>T (p.(Arg98Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994697" "0" "50" "5" "140056997" "140056997" "subst" "0" "01804" "DND1_000023" "g.140056997C>G" "" "" "" "HARS(NM_002109.4):c.738G>C (p.(Trp246Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994698" "0" "50" "5" "140058699" "140058699" "subst" "8.12499E-5" "01804" "HARS_000005" "g.140058699C>T" "" "" "" "HARS(NM_002109.4):c.410G>A (p.(Arg137Gln)), HARS(NM_002109.6):c.410G>A (p.R137Q), HARS1(NM_002109.6):c.410G>A (p.R137Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994699" "0" "30" "5" "140070864" "140070864" "subst" "0" "01804" "HARS2_000028" "g.140070864T>C" "" "" "" "HARS(NM_002109.4):c.26A>G (p.(Glu9Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025046" "0" "50" "5" "140056238" "140056238" "subst" "0" "02330" "HARS_000010" "g.140056238C>T" "" "" "" "HARS(NM_002109.6):c.1194+1G>A, HARS1(NM_002109.6):c.1194+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025047" "0" "50" "5" "140057256" "140057256" "subst" "1.21821E-5" "02325" "HARS_000003" "g.140057256A>G" "" "" "" "HARS1(NM_002109.6):c.713T>C (p.V238A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034935" "0" "30" "5" "140073084" "140073084" "subst" "0.000357535" "01804" "HARS2_000025" "g.140073084G>A" "" "" "" "HARS2(NM_001363535.2):c.117G>A (p.(Glu39=)), HARS2(NM_012208.3):c.109-92G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes HARS2 ## Count = 103 "{{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" "00024198" "00" "-8388608" "0" "5640669" "0" "c.-16242710_*5639148dup" "" "" "" "0000140431" "00024198" "90" "1010" "0" "1010" "0" "c.1010A>G" "r.(?)" "p.(Tyr337Cys)" "10" "0000140432" "00024198" "90" "1010" "0" "1010" "0" "c.1010A>G" "r.(?)" "p.(Tyr337Cys)" "10" "0000246384" "00024198" "30" "-13978" "0" "-13978" "0" "c.-13978A>G" "r.(?)" "p.(=)" "" "0000255368" "00024198" "70" "-8447" "0" "-8447" "0" "c.-8447del" "r.(?)" "p.(=)" "" "0000277542" "00024198" "50" "-14857" "0" "-14857" "0" "c.-14857C>T" "r.(?)" "p.(=)" "" "0000277543" "00024198" "50" "-16630" "0" "-16630" "0" "c.-16630T>C" "r.(?)" "p.(=)" "" "0000277544" "00024198" "10" "-16977" "0" "-16977" "0" "c.-16977C>T" "r.(?)" "p.(=)" "" "0000277545" "00024198" "10" "-358" "0" "-358" "0" "c.-358G>T" "r.(?)" "p.(=)" "" "0000277546" "00024198" "10" "-8415" "0" "-8415" "0" "c.-8415C>G" "r.(?)" "p.(=)" "" "0000277547" "00024198" "10" "-8483" "0" "-8483" "0" "c.-8483G>A" "r.(?)" "p.(=)" "" "0000277548" "00024198" "10" "-13699" "0" "-13699" "0" "c.-13699G>A" "r.(?)" "p.(=)" "" "0000281227" "00024198" "10" "-16977" "0" "-16977" "0" "c.-16977C>T" "r.(?)" "p.(=)" "" "0000281228" "00024198" "10" "399" "18" "399" "18" "c.399+18G>A" "r.(=)" "p.(=)" "" "0000288932" "00024198" "90" "-14996" "0" "-14996" "0" "c.-14996C>T" "r.(?)" "p.(=)" "" "0000288933" "00024198" "50" "-16957" "0" "-16957" "0" "c.-16957G>A" "r.(?)" "p.(=)" "" "0000288934" "00024198" "10" "-358" "0" "-358" "0" "c.-358G>T" "r.(?)" "p.(=)" "" "0000288935" "00024198" "50" "-793" "0" "-793" "0" "c.-793T>G" "r.(?)" "p.(=)" "" "0000288937" "00024198" "70" "-8445" "0" "-8443" "0" "c.-8445_-8443del" "r.(?)" "p.(=)" "" "0000288938" "00024198" "50" "-11847" "0" "-11847" "0" "c.-11847G>A" "r.(?)" "p.(=)" "" "0000288939" "00024198" "50" "-384" "0" "-384" "0" "c.-384G>T" "r.(?)" "p.(=)" "" "0000288940" "00024198" "50" "1039" "0" "1039" "0" "c.1039C>G" "r.(?)" "p.(Gln347Glu)" "" "0000288941" "00024198" "30" "1254" "0" "1254" "0" "c.1254G>C" "r.(?)" "p.(Gln418His)" "" "0000288942" "00024198" "30" "324" "0" "324" "0" "c.324T>C" "r.(?)" "p.(Tyr108=)" "" "0000288943" "00024198" "50" "956" "0" "956" "0" "c.956T>C" "r.(?)" "p.(Ile319Thr)" "" "0000330564" "00024198" "30" "1254" "0" "1254" "0" "c.1254G>C" "r.(?)" "p.(Gln418His)" "" "0000524442" "00024198" "30" "-20340" "0" "-20340" "0" "c.-20340G>C" "r.(?)" "p.(=)" "" "0000524443" "00024198" "30" "-20327" "0" "-20327" "0" "c.-20327C>T" "r.(?)" "p.(=)" "" "0000524445" "00024198" "30" "-20148" "0" "-20148" "0" "c.-20148C>T" "r.(?)" "p.(=)" "" "0000524446" "00024198" "30" "-16522" "0" "-16522" "0" "c.-16522C>T" "r.(?)" "p.(=)" "" "0000524447" "00024198" "50" "-14957" "0" "-14957" "0" "c.-14957C>A" "r.(?)" "p.(=)" "" "0000524448" "00024198" "10" "-14928" "0" "-14928" "0" "c.-14928T>C" "r.(?)" "p.(=)" "" "0000524449" "00024198" "10" "-14679" "0" "-14679" "0" "c.-14679C>T" "r.(?)" "p.(=)" "" "0000524450" "00024198" "10" "-14612" "0" "-14612" "0" "c.-14612G>A" "r.(?)" "p.(=)" "" "0000524451" "00024198" "30" "-14543" "0" "-14543" "0" "c.-14543G>T" "r.(?)" "p.(=)" "" "0000524453" "00024198" "30" "-14212" "0" "-14212" "0" "c.-14212C>T" "r.(?)" "p.(=)" "" "0000524454" "00024198" "10" "-13725" "0" "-13725" "0" "c.-13725C>T" "r.(?)" "p.(=)" "" "0000524455" "00024198" "50" "-13725" "0" "-13725" "0" "c.-13725C>T" "r.(?)" "p.(=)" "" "0000524457" "00024198" "50" "-11847" "0" "-11847" "0" "c.-11847G>A" "r.(?)" "p.(=)" "" "0000524458" "00024198" "50" "-11805" "0" "-11805" "0" "c.-11805T>C" "r.(?)" "p.(=)" "" "0000524459" "00024198" "30" "-8495" "0" "-8495" "0" "c.-8495A>C" "r.(?)" "p.(=)" "" "0000524460" "00024198" "70" "-8440" "0" "-8440" "0" "c.-8440dup" "r.(?)" "p.(=)" "" "0000524461" "00024198" "50" "-438" "0" "-438" "0" "c.-438T>G" "r.(?)" "p.(=)" "" "0000524462" "00024198" "30" "-358" "0" "-358" "0" "c.-358G>T" "r.(?)" "p.(=)" "" "0000524463" "00024198" "10" "-339" "0" "-339" "0" "c.-339C>A" "r.(?)" "p.(=)" "" "0000524464" "00024198" "30" "7" "0" "7" "0" "c.7C>G" "r.(?)" "p.(Leu3Val)" "" "0000524466" "00024198" "50" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138His)" "" "0000524467" "00024198" "90" "489" "0" "489" "0" "c.489dup" "r.(?)" "p.(Ile164HisfsTer7)" "" "0000524468" "00024198" "30" "564" "0" "564" "0" "c.564C>T" "r.(?)" "p.(Pro188=)" "" "0000524469" "00024198" "50" "1105" "0" "1105" "0" "c.1105G>C" "r.(?)" "p.(Gly369Arg)" "" "0000524470" "00024198" "50" "1421" "0" "1421" "0" "c.1421A>G" "r.(?)" "p.(Glu474Gly)" "" "0000524471" "00024198" "70" "1439" "0" "1439" "0" "c.1439G>A" "r.(?)" "p.(Arg480His)" "" "0000609525" "00024198" "50" "-13978" "0" "-13978" "0" "c.-13978A>G" "r.(?)" "p.(=)" "" "0000609526" "00024198" "70" "-12535" "0" "-12535" "0" "c.-12535C>T" "r.(?)" "p.(=)" "" "0000609527" "00024198" "30" "-8546" "0" "-8546" "0" "c.-8546T>C" "r.(?)" "p.(=)" "" "0000609528" "00024198" "50" "389" "0" "389" "0" "c.389A>G" "r.(?)" "p.(Tyr130Cys)" "" "0000609529" "00024198" "30" "613" "0" "613" "0" "c.613T>C" "r.(?)" "p.(Leu205=)" "" "0000609530" "00024198" "50" "1017" "0" "1017" "0" "c.1017A>G" "r.(?)" "p.(Ala339=)" "" "0000609531" "00024198" "30" "1281" "0" "1281" "0" "c.1281G>A" "r.(?)" "p.(Lys427=)" "" "0000621490" "00024198" "50" "-433" "0" "-433" "0" "c.-433A>C" "r.(?)" "p.(=)" "" "0000621491" "00024198" "50" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Gly123Arg)" "" "0000639719" "00024198" "77" "172" "0" "172" "0" "c.172A>G" "r.(?)" "p.(Lys58Glu)" "2" "0000639720" "00024198" "77" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150Cys)" "5" "0000639721" "00024198" "99" "598" "0" "598" "0" "c.598C>G" "r.(?)" "p.(Leu200Val)" "6" "0000639722" "00024198" "99" "633" "1" "633" "1" "c.633+1G>A" "r.spl?" "p.?" "6i" "0000639723" "00024198" "99" "1102" "0" "1102" "0" "c.1102G>T" "r.(?)" "p.(Val368Leu)" "10" "0000655303" "00024198" "10" "-16582" "0" "-16582" "0" "c.-16582G>C" "r.(?)" "p.(=)" "" "0000655304" "00024198" "30" "-13725" "0" "-13725" "0" "c.-13725C>T" "r.(?)" "p.(=)" "" "0000655305" "00024198" "10" "399" "18" "399" "18" "c.399+18G>A" "r.(=)" "p.(=)" "" "0000677413" "00024198" "30" "-16958" "0" "-16958" "0" "c.-16958C>T" "r.(?)" "p.(=)" "" "0000677414" "00024198" "50" "-14242" "0" "-14242" "0" "c.-14242T>A" "r.(?)" "p.(=)" "" "0000677415" "00024198" "50" "-12562" "0" "-12560" "0" "c.-12562_-12560dup" "r.(?)" "p.(=)" "" "0000689441" "00024198" "50" "-14299" "0" "-14299" "0" "c.-14299A>G" "r.(?)" "p.(=)" "" "0000720216" "00024198" "50" "-8467" "0" "-8467" "0" "c.-8467C>T" "r.(?)" "p.(=)" "" "0000720217" "00024198" "50" "-8452" "0" "-8452" "0" "c.-8452C>T" "r.(?)" "p.(=)" "" "0000795357" "00024198" "70" "260" "0" "260" "0" "c.260G>A" "r.(?)" "p.(Arg87His)" "" "0000801922" "00024198" "10" "-16517" "0" "-16517" "0" "c.-16517G>A" "r.(?)" "p.(=)" "" "0000801923" "00024198" "50" "-8451" "0" "-8451" "0" "c.-8451G>A" "r.(?)" "p.(=)" "" "0000850802" "00024198" "50" "-12535" "0" "-12535" "0" "c.-12535C>T" "r.(?)" "p.(=)" "" "0000850804" "00024198" "50" "338" "0" "338" "0" "c.338G>T" "r.(?)" "p.(Gly113Val)" "" "0000859779" "00024198" "50" "-14996" "0" "-14996" "0" "c.-14996C>T" "r.(?)" "p.(=)" "" "0000859780" "00024198" "70" "-12535" "0" "-12535" "0" "c.-12535C>T" "r.(?)" "p.(=)" "" "0000859781" "00024198" "30" "109" "-92" "109" "-92" "c.109-92G>A" "r.(=)" "p.(=)" "" "0000859782" "00024198" "30" "400" "-4" "400" "-4" "c.400-4T>C" "r.spl?" "p.?" "" "0000859783" "00024198" "30" "1515" "0" "1515" "0" "c.1515G>T" "r.(?)" "p.(Glu505Asp)" "" "0000886643" "00024198" "90" "-12535" "0" "-12535" "0" "c.-12535C>T" "r.(?)" "p.(=)" "" "0000886644" "00024198" "50" "-8493" "0" "-8493" "0" "c.-8493G>A" "r.(?)" "p.(=)" "" "0000886645" "00024198" "30" "-8450" "0" "-8450" "0" "c.-8450G>A" "r.(?)" "p.(=)" "" "0000886646" "00024198" "10" "-384" "0" "-384" "0" "c.-384G>T" "r.(?)" "p.(=)" "" "0000886647" "00024198" "30" "633" "4" "633" "4" "c.633+4A>T" "r.spl?" "p.?" "" "0000912246" "00024198" "10" "-16517" "0" "-16517" "0" "c.-16517G>A" "r.(?)" "p.(=)" "" "0000924253" "00024198" "50" "-17348" "0" "-17348" "0" "c.-17348C>T" "r.(?)" "p.(=)" "" "0000929021" "00024198" "30" "-13877" "0" "-13877" "0" "c.-13877T>C" "r.(?)" "p.(=)" "" "0000963462" "00024198" "30" "-14212" "0" "-14212" "0" "c.-14212C>T" "r.(?)" "p.(=)" "" "0000963463" "00024198" "30" "-13733" "0" "-13733" "0" "c.-13733G>A" "r.(?)" "p.(=)" "" "0000976597" "00024198" "50" "-14750" "0" "-14750" "0" "c.-14750G>T" "r.(?)" "p.(=)" "" "0000994696" "00024198" "50" "-18893" "0" "-18893" "0" "c.-18893C>A" "r.(?)" "p.(=)" "" "0000994697" "00024198" "50" "-14237" "0" "-14237" "0" "c.-14237C>G" "r.(?)" "p.(=)" "" "0000994698" "00024198" "50" "-12535" "0" "-12535" "0" "c.-12535C>T" "r.(?)" "p.(=)" "" "0000994699" "00024198" "30" "-370" "0" "-370" "0" "c.-370T>C" "r.(?)" "p.(=)" "" "0001025046" "00024198" "50" "-14996" "0" "-14996" "0" "c.-14996C>T" "r.(?)" "p.(=)" "" "0001025047" "00024198" "50" "-13978" "0" "-13978" "0" "c.-13978A>G" "r.(?)" "p.(=)" "" "0001034935" "00024198" "30" "109" "-92" "109" "-92" "c.109-92G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000050520" "0000079500" "0000087263" "0000140431" "0000087264" "0000140432" "0000283977" "0000639719" "0000283978" "0000639720" "0000283979" "0000639721" "0000283980" "0000639722" "0000283981" "0000639723" "0000381793" "0000795357"