### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = QARS) # 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}}" "QARS" "glutaminyl-tRNA synthetase" "3" "p21.31" "unknown" "NC_000003.11" "UD_132464503640" "" "http://www.LOVD.nl/QARS" "" "1" "9751" "5859" "603727" "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/QARS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-06-18 21:35:59" "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}}" "00017242" "QARS" "glutaminyl-tRNA synthetase" "001" "NM_005051.1" "" "NP_005042.1" "" "" "" "-5" "2425" "2328" "49142171" "49133365" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00393" "MCPH1" "microcephaly, type 1, primary, autosomal recessive (MCPH-1)" "AR" "251200" "" "" "" "00006" "2014-05-30 09:28:05" "00006" "2021-12-10 21:51:32" "04075" "MSCCA" "microcephaly, progressive, seizures, and cerebral and cerebellar atrophy (MSCCA)" "AR" "615760" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "QARS" "04075" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00016844" "" "" "" "2" "" "00705" "{PMID:Zhang 2014:24656866}" "2-generation family, 2 affected borthers, heterozygous carrier parents (mother Raynaud disease, scleroderma; father ADHD), brother of patient II2" "M" "no" "United States" "" "0" "" "trials of phenobarbital, levetiracetam, lorazepam, topiramate, oxcarbazepine, valproic acid, gabapentin, lamotrigine, and clonazepam were ineffective in controlling the seizure activity" "European" "" "00016845" "" "" "00016844" "1" "" "00705" "{PMID:Zhang 2014:24656866}" "brother of 24656866-Fam1PatII1" "M" "no" "United States" "" "0" "" "was treated with clonazepam and gabapentin regularly for seizures after 2 years of age." "European" "" "00016846" "" "" "" "2" "" "00705" "{PMID:Zhang 2014:24656866}" "2-generation family, 2 affecteds (brother/sister), unaffected heterozygous carrier parents, brother of 24656866-FamIIPat2" "M" "no" "France" "" "0" "" "" "European" "" "00016847" "" "" "00016846" "1" "" "00705" "{PMID:Zhang 2014:24656866}" "sister of 24656866-FamIIPat1" "F" "no" "France" "" "0" "" "" "European" "" "00092269" "" "" "" "1" "" "00006" "{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}" "" "" "" "United States" "" "0" "" "" "" "" "00293422" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00324463" "" "" "" "1" "" "00006" "{PMID:Fuchs 2019:29875423}" "" "M" "" "" "" "0" "" "" "" "P5" "00408084" "" "" "" "1" "" "00000" "{PMID:Alabdullatif 2017:27717089}" "" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "11" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00016844" "00393" "00016845" "00393" "00016846" "00393" "00016847" "00393" "00092269" "04075" "00293422" "00198" "00324463" "00198" "00408084" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00393, 04075, 04214 ## Count = 7 "{{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}}" "0000015246" "00393" "00016844" "00705" "Familial, autosomal recessive" "04y" "Seizure Onset One hour after birth, Profound delays,\r\ncortical visual impairment, normal hearing, chronic constipation, tracheomalacia, possible tapetoretinal\r\ndegeneration as seen in Leber\'s congential amaurosis, no meaningful visual response in either eye, nutrition by Gtube. Mixed hypotonia and\r\nhypertonia. Sloping forehead, bitemporal narrowing,\r\nhypotelorism, bilateral epicanthal folds, broad flat nasal bridge, high arched palate. At age 5 months skin exam with slightly raised red rash across his chest and abdomen. Microcephaly -4.8SD at 1.5 months; -10.4SD at 21months" "" "" "" "" "" "" "" "" "" "" "" "0000015247" "00393" "00016845" "00705" "Familial, autosomal recessive" "03y" "Seizure onset first day of life (frequent, recurring, longlasting), Profound delays, no\r\nconstipation, can bubble, nystagmus, nutrition by Gtube. High muscle tone with brisk reflexes. Less of sloping forehead than brother, has bitemporal\r\nnarrowing, epicanthal folds, hyptelorism, low set and posteriorly rotated ears, broad nasal bridge, high\r\npalate. Unremarkable skin exam. Microcephaly -5.8SD at 3 months; -7.8SD at 7 months. 2y:period of illness during which he was reported\r\nto have episodes characterized by sudden onset of constant kicking and thrashing, dehydration, pneumonia, and rhabdomyolysis with a peak creatine kinase level of >7,000 u/l, lasting 2m; 3y: similar period lasting 8m." "" "" "" "" "" "" "" "" "" "" "" "0000015248" "00393" "00016846" "00705" "Familial, autosomal recessive" "04y" "born at 41w of gestation after uneventful pregnancy. At birth, he showed an OFC at 1 SD, normal body weight (tenth percentile), and normal height (51st percentile). Seizures 1st hour of life consisted clonic movements of the right hemiface and lower limbs, drooling, and cyanosis. Seizures\r\nwere polymorphic, long lasting, and harmacoresistant. Ictal EEG showed a ‘‘migrating’’ pattern consistent with migrating partial seizures in infancy. He showed global hypotonia and lack of visual interaction. ;5.5y: profound psychomotor delay, microcephaly (3 SDs), active epilepsy with weekly seizures that were resistant to antiepileptic drugs (AEDs). Dysmorphisms: Coarse facies,\r\nhypoplastic helix of ear and prominent upper lip." "" "" "" "" "" "" "" "" "" "" "" "0000015249" "00393" "00016847" "00705" "Familial, autosomal recessive" "01y03m" "born full term after an uneventful pregnancy and delivery. OFC of 32 cm (1 SD), normal height (40th percentile), normal body weight (11th percentile). 1m: epilepsy, her first seizures were clonic with apnea and cyanosis. Clusters of focal polymorphic seizures then occurred about 2/month, were poorly controlled despite many AED trials. 5m: seizures occurred in clusters of 20–30 several times/day. Variable clinical manifestations: often mild and accompanied by eye deviation, chewing, apnea, cyanosis. Ictal EEG showed migrating focal seizures.\r\n1y3m: head circumference below the 3d percentile, had severe hypotonia with global psychomotor delay. 3y: weekly seizures, failed to gain further developmental skills, microcephaly (2.5 SDs)." "" "" "" "" "" "" "" "" "" "" "" "0000070605" "04075" "00092269" "00006" "Familial, autosomal recessive" "" "profound IDD with developmental arrest, progressive microcephaly with diffuse supra-tentorial cerebral atrophy & severely deficient myelination, intractable seizures; serine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000243007" "00198" "00324463" "00006" "Familial, autosomal recessive" "04y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000300212" "04214" "00408084" "00000" "Familial, autosomal recessive" "11y" "11 years old boy with developmental delay and intellectual disability. He had recurrent complex febrile seizure that resolved, hypotonia, nystagmus, underweight, short stature, and microcephaly. His brain MRI was normal. His parents were cousins and he had 7 brothers and 2 sisters all of whom were healthy." "" "" "" "" "" "" "" "" "Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016811" "00016844" "1" "00705" "00705" "2014-05-31 21:28:39" "00705" "2014-05-31 22:25:48" "SEQ" "DNA" "" "" "0000016812" "00016845" "1" "00705" "00705" "2014-05-31 22:14:58" "" "" "SEQ" "DNA" "" "" "0000016813" "00016846" "1" "00705" "00705" "2014-06-01 21:15:18" "" "" "SEQ" "DNA" "" "" "0000016814" "00016847" "1" "00705" "00705" "2014-06-01 21:34:58" "" "" "SEQ" "DNA" "" "" "0000092410" "00092269" "1" "00006" "00006" "2016-12-16 19:53:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000294590" "00293422" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000325655" "00324463" "1" "00006" "00006" "2020-12-14 10:38:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000409339" "00408084" "1" "00000" "03840" "2022-04-13 19:19:00" "" "" "arraySNP;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000016811" "QARS" "0000016812" "QARS" "0000016813" "QARS" "0000016814" "QARS" "0000092410" "QARS" "0000325655" "QARS" "0000409339" "QARS" ## 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 = 60 "{{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}}" "0000036709" "21" "90" "3" "49141888" "49141888" "subst" "2.43696E-5" "00705" "QARS_000001" "g.49141888C>A" "" "{PMID:Zhang 2014:24656866}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49104455C>A" "" "pathogenic" "" "0000036710" "21" "90" "3" "49141888" "49141888" "subst" "2.43696E-5" "00705" "QARS_000001" "g.49141888C>A" "" "{PMID:Zhang 2014:24656866}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49104455C>A" "" "pathogenic" "" "0000036711" "11" "90" "3" "49137482" "49137482" "subst" "8.12137E-6" "00705" "QARS_000002" "g.49137482G>A" "" "{PMID:Zhang 2014:24656866}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49100049G>A" "" "pathogenic" "" "0000036712" "11" "90" "3" "49137482" "49137482" "subst" "8.12137E-6" "00705" "QARS_000002" "g.49137482G>A" "" "{PMID:Zhang 2014:24656866}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49100049G>A" "" "pathogenic" "" "0000036713" "11" "90" "3" "49141853" "49141853" "subst" "4.06068E-6" "00705" "QARS_000003" "g.49141853A>G" "" "{PMID:Zhang 2014:24656866}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49104420A>G" "" "pathogenic" "" "0000036714" "21" "90" "3" "49136848" "49136848" "subst" "8.12123E-6" "00705" "QARS_000004" "g.49136848G>A" "" "{PMID:Zhang 2014:24656866}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49099415G>A" "" "pathogenic" "" "0000036715" "11" "90" "3" "49141853" "49141853" "subst" "4.06068E-6" "00705" "QARS_000003" "g.49141853A>G" "" "{PMID:Zhang 2014:24656866}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49104420A>G" "" "pathogenic" "" "0000036716" "21" "90" "3" "49136848" "49136848" "subst" "8.12123E-6" "00705" "QARS_000004" "g.49136848G>A" "" "{PMID:Zhang 2014:24656866}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49099415G>A" "" "pathogenic" "" "0000150692" "1" "90" "3" "49137195" "49137195" "subst" "1.62803E-5" "00006" "QARS_000005" "g.49137195G>A" "" "{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}" "" "" "" "Germline" "" "" "0" "" "" "g.49099762G>A" "" "pathogenic" "" "0000150693" "2" "70" "3" "49135476" "49135476" "subst" "0" "00006" "QARS_000006" "g.49135476C>R" "" "{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000150694" "0" "90" "3" "49135476" "49135476" "subst" "0" "00006" "QARS_000007" "g.49135476C>A" "" "{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}" "" "" "aAminoacylation activity reduced to 0.10" "In vitro (cloned)" "" "" "0" "" "" "g.49098043C>A" "" "NA" "" "0000150695" "0" "90" "3" "49137195" "49137195" "subst" "1.62803E-5" "00006" "QARS_000005" "g.49137195G>A" "" "{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}" "" "" "aminoacylation activity reduce to 0.00" "In vitro (cloned)" "" "" "0" "" "" "g.49099762G>A" "" "NA" "" "0000252076" "0" "30" "3" "49138124" "49138124" "subst" "0.000645774" "02326" "QARS_000011" "g.49138124A>G" "" "" "" "QARS1(NM_005051.3):c.877-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49100691A>G" "" "likely benign" "" "0000255952" "0" "50" "3" "49137627" "49137627" "subst" "1.22038E-5" "01943" "QARS_000010" "g.49137627A>C" "" "" "" "QARS(NM_005051.2):c.1160T>G (p.F387C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49100194A>C" "" "VUS" "" "0000297520" "0" "30" "3" "49141793" "49141793" "subst" "9.74651E-5" "02325" "QARS_000013" "g.49141793C>T" "" "" "" "QARS1(NM_005051.3):c.229G>A (p.A77T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49104360C>T" "" "likely benign" "" "0000306654" "0" "30" "3" "49137187" "49137187" "subst" "0.000504446" "01943" "QARS_000009" "g.49137187C>T" "" "" "" "QARS(NM_005051.2):c.1388+7G>A, QARS1(NM_005051.3):c.1388+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49099754C>T" "" "likely benign" "" "0000306655" "0" "10" "3" "49136666" "49136666" "subst" "0.00192087" "01943" "QARS_000008" "g.49136666T>C" "" "" "" "QARS(NM_005051.2):c.1635A>G (p.Q545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49099233T>C" "" "benign" "" "0000306656" "0" "50" "3" "49141355" "49141355" "subst" "0.000264097" "01943" "QARS_000012" "g.49141355C>T" "" "" "" "QARS(NM_005051.2):c.316G>A (p.D106N, p.(Asp106Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49103922C>T" "" "VUS" "" "0000520156" "0" "30" "3" "49135789" "49135789" "subst" "8.12196E-6" "01943" "QRICH1_000001" "g.49135789C>T" "" "" "" "QARS(NM_005051.2):c.2081G>A (p.R694Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49098356C>T" "" "likely benign" "" "0000520157" "0" "30" "3" "49136105" "49136105" "subst" "2.61308E-5" "02326" "QRICH1_000002" "g.49136105C>T" "" "" "" "QARS1(NM_005051.3):c.1884G>A (p.K628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49098672C>T" "" "likely benign" "" "0000520158" "0" "70" "3" "49136126" "49136126" "subst" "0" "02329" "QRICH1_000003" "g.49136126C>T" "" "" "" "QARS1(NM_005051.3):c.1864-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49098693C>T" "" "likely pathogenic" "" "0000520159" "0" "30" "3" "49136849" "49136849" "subst" "0.000207091" "01943" "QARS_000012" "g.49136849T>C" "" "" "" "QARS(NM_005051.2):c.1542A>G (p.P514=), QARS1(NM_005051.3):c.1542A>G (p.P514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49099416T>C" "" "likely benign" "" "0000520160" "0" "30" "3" "49136849" "49136849" "subst" "0.000207091" "02326" "QARS_000012" "g.49136849T>C" "" "" "" "QARS(NM_005051.2):c.1542A>G (p.P514=), QARS1(NM_005051.3):c.1542A>G (p.P514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49099416T>C" "" "likely benign" "" "0000520161" "0" "50" "3" "49137043" "49137043" "subst" "0.00163725" "01943" "QARS_000013" "g.49137043C>T" "" "" "" "QARS(NM_005051.2):c.1426G>A (p.V476I), QARS1(NM_005051.3):c.1426G>A (p.V476I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49099610C>T" "" "VUS" "" "0000520162" "0" "30" "3" "49137043" "49137043" "subst" "0.00163725" "02326" "QARS_000013" "g.49137043C>T" "" "" "" "QARS(NM_005051.2):c.1426G>A (p.V476I), QARS1(NM_005051.3):c.1426G>A (p.V476I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49099610C>T" "" "likely benign" "" "0000520163" "0" "30" "3" "49137187" "49137187" "subst" "0.000504446" "02326" "QARS_000009" "g.49137187C>T" "" "" "" "QARS(NM_005051.2):c.1388+7G>A, QARS1(NM_005051.3):c.1388+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49099754C>T" "" "likely benign" "" "0000520164" "0" "50" "3" "49137494" "49137494" "subst" "0.000194906" "01804" "QARS_000014" "g.49137494C>T" "" "" "" "QARS(NM_005051.2):c.1195G>A (p.(Glu399Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49100061C>T" "" "VUS" "" "0000520165" "0" "50" "3" "49137655" "49137655" "subst" "7.73074E-5" "01943" "QARS_000015" "g.49137655G>A" "" "" "" "QARS(NM_005051.2):c.1132C>T (p.R378C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49100222G>A" "" "VUS" "" "0000520166" "0" "30" "3" "49137803" "49137803" "subst" "0.000889622" "02326" "QARS_000016" "g.49137803C>G" "" "" "" "QARS(NM_005051.2):c.1055+10G>C, QARS1(NM_005051.3):c.1055+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49100370C>G" "" "likely benign" "" "0000520168" "0" "30" "3" "49139327" "49139327" "subst" "0" "01943" "QARS_000018" "g.49139327T>C" "" "" "" "QARS(NM_005051.2):c.637A>G (p.T213A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49101894T>C" "" "likely benign" "" "0000520169" "0" "50" "3" "49141093" "49141093" "subst" "0" "01943" "USP19_000005" "g.49141093C>T" "" "" "" "QARS(NM_005051.2):c.422G>A (p.R141H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49103660C>T" "" "VUS" "" "0000520170" "0" "50" "3" "49141355" "49141355" "subst" "0.000264097" "01804" "QARS_000012" "g.49141355C>T" "" "" "" "QARS(NM_005051.2):c.316G>A (p.D106N, p.(Asp106Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49103922C>T" "" "VUS" "" "0000520171" "0" "50" "3" "49142142" "49142142" "subst" "0.00271195" "01943" "USP19_000006" "g.49142142G>T" "" "" "" "QARS(NM_005051.2):c.25C>A (p.L9I), QARS1(NM_005051.3):c.25C>A (p.L9I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49104709G>T" "" "VUS" "" "0000520172" "0" "10" "3" "49142142" "49142142" "subst" "0.00271195" "02326" "USP19_000006" "g.49142142G>T" "" "" "" "QARS(NM_005051.2):c.25C>A (p.L9I), QARS1(NM_005051.3):c.25C>A (p.L9I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49104709G>T" "" "benign" "" "0000608767" "0" "50" "3" "49136944" "49136944" "subst" "0.00114531" "01943" "QARS_000019" "g.49136944G>A" "" "" "" "QARS(NM_005051.2):c.1525C>T (p.R509W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49099511G>A" "" "VUS" "" "0000608768" "0" "50" "3" "49137518" "49137518" "subst" "1.21827E-5" "01943" "QARS_000020" "g.49137518G>A" "" "" "" "QARS(NM_005051.2):c.1171C>T (p.R391C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49100085G>A" "" "VUS" "" "0000608769" "0" "30" "3" "49141046" "49141046" "subst" "0.000107451" "02326" "USP19_000008" "g.49141046G>A" "" "" "" "QARS1(NM_005051.3):c.451+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49103613G>A" "" "likely benign" "" "0000621290" "0" "50" "3" "49138829" "49138829" "subst" "0" "01943" "QARS_000021" "g.49138829C>T" "" "" "" "QARS(NM_005051.2):c.835G>A (p.G279R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49101396C>T" "" "VUS" "" "0000651279" "1" "30" "3" "49142142" "49142142" "subst" "0.00271195" "03575" "USP19_000006" "g.49142142G>T" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs62621067}" "Germline" "" "rs62621067" "0" "" "" "g.49104709G>T" "" "likely benign" "" "0000654986" "0" "30" "3" "49137803" "49137803" "subst" "0.000889622" "01943" "QARS_000016" "g.49137803C>G" "" "" "" "QARS(NM_005051.2):c.1055+10G>C, QARS1(NM_005051.3):c.1055+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49100370C>G" "" "likely benign" "" "0000654987" "0" "30" "3" "49139291" "49139291" "subst" "0.00223441" "02326" "QARS_000022" "g.49139291G>A" "" "" "" "QARS1(NM_005051.3):c.673C>T (p.R225W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49101858G>A" "" "likely benign" "" "0000677035" "0" "50" "3" "49136832" "49136832" "subst" "2.84243E-5" "01943" "QARS_000024" "g.49136832G>A" "" "" "" "QARS(NM_005051.2):c.1559C>T (p.T520M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689104" "0" "50" "3" "49136823" "49136823" "subst" "0.000138062" "01943" "QARS_000029" "g.49136823C>T" "" "" "" "QARS(NM_005051.2):c.1568G>A (p.R523Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689105" "0" "50" "3" "49139105" "49139105" "subst" "0" "02325" "QARS_000030" "g.49139105G>A" "" "" "" "QARS1(NM_005051.3):c.737C>T (p.T246I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000708785" "1" "90" "3" "49135785" "49135786" "del" "0" "00006" "QARS_000031" "g.49135785_49135786del" "" "{PMID:Fuchs 2019:29875423}" "" "" "" "Germline" "" "" "0" "" "" "g.49098352_49098353del" "" "pathogenic (recessive)" "" "0000708786" "2" "90" "3" "49138871" "49138871" "subst" "0" "00006" "QARS_000032" "g.49138871G>A" "" "{PMID:Fuchs 2019:29875423}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000719493" "0" "30" "3" "49142033" "49142033" "subst" "0.00169107" "02326" "QARS_000033" "g.49142033G>A" "" "" "" "QARS1(NM_005051.3):c.117+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801289" "0" "30" "3" "49136356" "49136356" "subst" "1.62422E-5" "01943" "QARS_000034" "g.49136356C>T" "" "" "" "QARS(NM_005051.2):c.1825G>A (p.A609T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801290" "0" "30" "3" "49139122" "49139122" "subst" "2.03153E-5" "01943" "QARS_000035" "g.49139122G>A" "" "" "" "QARS(NM_005051.2):c.720C>T (p.T240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000846493" "3" "70" "3" "49137729" "49137729" "subst" "0" "00000" "QARS_000036" "g.49137729C>A" "" "{PMID:Alabdullatif 2017:27717089}" "" "QARS c.1058G>T, (p.Gly353Val)" "homozygous" "Germline" "yes" "" "0" "" "" "g.49100296C>A" "" "likely pathogenic" "" "0000850364" "0" "10" "3" "49136630" "49136630" "subst" "0.000584814" "02326" "QARS_000037" "g.49136630C>A" "" "" "" "QARS1(NM_005051.3):c.1671G>T (p.V557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850365" "0" "50" "3" "49137193" "49137193" "subst" "4.06951E-6" "01943" "QARS_000038" "g.49137193C>G" "" "" "" "QARS(NM_005051.2):c.1388+1G>C, QARS(NM_005051.3):c.1388+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850366" "0" "30" "3" "49141350" "49141350" "subst" "1.62524E-5" "01943" "QARS_000039" "g.49141350G>A" "" "" "" "QARS(NM_005051.2):c.321C>T (p.F107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859074" "0" "30" "3" "49141859" "49141859" "subst" "0.00359788" "02326" "QARS_000040" "g.49141859G>A" "" "" "" "QARS1(NM_005051.3):c.163C>T (p.L55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975891" "0" "50" "3" "49137079" "49137079" "subst" "4.06557E-6" "01804" "QARS_000041" "g.49137079G>A" "" "" "" "QARS(NM_005051.3):c.1390C>T (p.(Arg464Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993777" "0" "50" "3" "49138870" "49138870" "subst" "0" "01804" "QARS_000042" "g.49138870C>T" "" "" "" "QARS(NM_005051.2):c.794G>A (p.(Arg265His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034036" "0" "50" "3" "49137193" "49137193" "subst" "4.06951E-6" "01804" "QARS_000038" "g.49137193C>G" "" "" "" "QARS(NM_005051.2):c.1388+1G>C, QARS(NM_005051.3):c.1388+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034037" "0" "90" "3" "49137195" "49137195" "subst" "1.62803E-5" "01804" "QARS_000005" "g.49137195G>A" "" "" "" "QARS(NM_005051.3):c.1387C>T (p.(Arg463*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001034038" "0" "30" "3" "49139342" "49139342" "dup" "0" "01804" "QARS_000043" "g.49139342dup" "" "" "" "QARS(NM_005051.3):c.632-9dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051321" "0" "50" "3" "49137413" "49137413" "subst" "8.12282E-6" "01804" "QARS_000044" "g.49137413G>T" "" "" "" "QARS(NM_005051.3):c.1276C>A (p.(His426Asn))" "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 QARS ## Count = 60 "{{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}}" "0000036709" "00017242" "90" "134" "0" "134" "0" "c.134G>T" "r.(?)" "p.(Gly45Val)" "2" "0000036710" "00017242" "90" "134" "0" "134" "0" "c.134G>T" "r.(?)" "p.(Gly45Val)" "2" "0000036711" "00017242" "90" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Arg403Trp)" "14" "0000036712" "00017242" "90" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Arg403Trp)" "14" "0000036713" "00017242" "90" "169" "0" "169" "0" "c.169T>C" "r.(?)" "p.(Tyr57His)" "2" "0000036714" "00017242" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "17" "0000036715" "00017242" "90" "169" "0" "169" "0" "c.169T>C" "r.(?)" "p.(Tyr57His)" "2" "0000036716" "00017242" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Trp)" "17" "0000150692" "00017242" "90" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.(Arg463*)" "15" "0000150693" "00017242" "70" "2226" "0" "2226" "0" "c.2226G>Y" "r.(?)" "p.(Gln742His)" "23" "0000150694" "00017242" "90" "2226" "0" "2226" "0" "c.2226G>T" "r.(?)" "p.Gln742His" "23" "0000150695" "00017242" "90" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.Arg463*" "15" "0000252076" "00017242" "30" "877" "-17" "877" "-17" "c.877-17T>C" "r.(=)" "p.(=)" "" "0000255952" "00017242" "50" "1160" "0" "1160" "0" "c.1160T>G" "r.(?)" "p.(Phe387Cys)" "" "0000297520" "00017242" "30" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Ala77Thr)" "" "0000306654" "00017242" "30" "1388" "7" "1388" "7" "c.1388+7G>A" "r.(=)" "p.(=)" "" "0000306655" "00017242" "10" "1635" "0" "1635" "0" "c.1635A>G" "r.(?)" "p.(Gln545=)" "" "0000306656" "00017242" "50" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Asp106Asn)" "" "0000520156" "00017242" "30" "2081" "0" "2081" "0" "c.2081G>A" "r.(?)" "p.(Arg694Gln)" "" "0000520157" "00017242" "30" "1884" "0" "1884" "0" "c.1884G>A" "r.(?)" "p.(Lys628=)" "" "0000520158" "00017242" "70" "1864" "-1" "1864" "-1" "c.1864-1G>A" "r.spl?" "p.?" "" "0000520159" "00017242" "30" "1542" "0" "1542" "0" "c.1542A>G" "r.(?)" "p.(Pro514=)" "" "0000520160" "00017242" "30" "1542" "0" "1542" "0" "c.1542A>G" "r.(?)" "p.(Pro514=)" "" "0000520161" "00017242" "50" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Val476Ile)" "" "0000520162" "00017242" "30" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Val476Ile)" "" "0000520163" "00017242" "30" "1388" "7" "1388" "7" "c.1388+7G>A" "r.(=)" "p.(=)" "" "0000520164" "00017242" "50" "1195" "0" "1195" "0" "c.1195G>A" "r.(?)" "p.(Glu399Lys)" "" "0000520165" "00017242" "50" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Arg378Cys)" "" "0000520166" "00017242" "30" "1055" "10" "1055" "10" "c.1055+10G>C" "r.(=)" "p.(=)" "" "0000520168" "00017242" "30" "637" "0" "637" "0" "c.637A>G" "r.(?)" "p.(Thr213Ala)" "" "0000520169" "00017242" "50" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141His)" "" "0000520170" "00017242" "50" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Asp106Asn)" "" "0000520171" "00017242" "50" "25" "0" "25" "0" "c.25C>A" "r.(?)" "p.(Leu9Ile)" "" "0000520172" "00017242" "10" "25" "0" "25" "0" "c.25C>A" "r.(?)" "p.(Leu9Ile)" "" "0000608767" "00017242" "50" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509Trp)" "" "0000608768" "00017242" "50" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "" "0000608769" "00017242" "30" "451" "18" "451" "18" "c.451+18C>T" "r.(=)" "p.(=)" "" "0000621290" "00017242" "50" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Gly279Arg)" "" "0000651279" "00017242" "30" "25" "0" "25" "0" "c.25C>A" "r.(?)" "p.(Leu9Ile)" "" "0000654986" "00017242" "30" "1055" "10" "1055" "10" "c.1055+10G>C" "r.(=)" "p.(=)" "" "0000654987" "00017242" "30" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225Trp)" "" "0000677035" "00017242" "50" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Thr520Met)" "" "0000689104" "00017242" "50" "1568" "0" "1568" "0" "c.1568G>A" "r.(?)" "p.(Arg523Gln)" "" "0000689105" "00017242" "50" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Thr246Ile)" "" "0000708785" "00017242" "90" "2084" "2" "2084" "3" "c.2084+2_2084+3del" "r.spl" "p.?" "" "0000708786" "00017242" "90" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265Cys)" "" "0000719493" "00017242" "30" "117" "17" "117" "17" "c.117+17C>T" "r.(=)" "p.(=)" "" "0000801289" "00017242" "30" "1825" "0" "1825" "0" "c.1825G>A" "r.(?)" "p.(Ala609Thr)" "" "0000801290" "00017242" "30" "720" "0" "720" "0" "c.720C>T" "r.(?)" "p.(Thr240=)" "" "0000846493" "00017242" "70" "1058" "0" "1058" "0" "c.1058G>T" "r.(?)" "p.(Gly353Val)" "" "0000850364" "00017242" "10" "1671" "0" "1671" "0" "c.1671G>T" "r.(?)" "p.(Val557=)" "" "0000850365" "00017242" "50" "1388" "1" "1388" "1" "c.1388+1G>C" "r.spl?" "p.?" "" "0000850366" "00017242" "30" "321" "0" "321" "0" "c.321C>T" "r.(?)" "p.(Phe107=)" "" "0000859074" "00017242" "30" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Leu55=)" "" "0000975891" "00017242" "50" "1390" "0" "1390" "0" "c.1390C>T" "r.(?)" "p.(Arg464Cys)" "" "0000993777" "00017242" "50" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Arg265His)" "" "0001034036" "00017242" "50" "1388" "1" "1388" "1" "c.1388+1G>C" "r.spl?" "p.?" "" "0001034037" "00017242" "90" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.(Arg463*)" "" "0001034038" "00017242" "30" "632" "-9" "632" "-9" "c.632-9dup" "r.(=)" "p.(=)" "" "0001051321" "00017242" "50" "1276" "0" "1276" "0" "c.1276C>A" "r.(?)" "p.(His426Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000016811" "0000036709" "0000016811" "0000036712" "0000016812" "0000036710" "0000016812" "0000036711" "0000016813" "0000036713" "0000016813" "0000036714" "0000016814" "0000036715" "0000016814" "0000036716" "0000092410" "0000150692" "0000092410" "0000150693" "0000294590" "0000651279" "0000325655" "0000708785" "0000325655" "0000708786" "0000409339" "0000846493"