### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VARS) # 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}}" "VARS" "valyl-tRNA synthetase" "6" "p21.3" "unknown" "NG_028229.1" "UD_132084439163" "" "https://www.LOVD.nl/VARS" "" "1" "12651" "7407" "192150" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/VARS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-12 17:37:37" "00000" "2024-08-28 13:16:32" ## 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}}" "00022556" "VARS" "valyl-tRNA synthetase" "001" "NM_006295.2" "" "NP_006286.1" "" "" "" "-423" "3871" "3795" "31763712" "31745295" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05129" "AGS" "Aicardi-Goutieres syndrome (AGS)" "" "" "" "" "" "00006" "2016-02-03 07:50:41" "" "" "05376" "NDMSCA" "neurodevelopmental disorder with microcephaly, seizures, cortical atrophy (NDMSCA)" "AR" "617802" "" "autosomal recessive" "" "00006" "2018-01-12 17:39:18" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "VARS" "05376" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00150104" "" "" "" "1" "" "01581" "" "2-generation family, 2 affected siblings; the affected individual manifested with progressive postnatal microcephaly, cerebral atrophy, seizures, developmental delay, micrognathia and speech delay. OMIM number has not yet been assigned since this a novel unpublished genetic cause." "M" "no" "India" "" "0" "" "" "Asian" "" "00150230" "" "" "" "2" "" "00006" "{PMID:Karaca 2015:26539891}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "family structure in paper" "" "" "26539891-FamBAB3186" "00150231" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "26539891-FamBAB3643" "00361906" "" "" "" "1" "" "03219" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00150104" "00198" "00150230" "00198" "00150231" "00198" "00361906" "05129" "00361906" "05376" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05129, 05376 ## Count = 5 "{{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}}" "0000122512" "00198" "00150104" "01581" "Familial, autosomal recessive" "03y" "microcephaly (HP:0000253), seizures (HP:0040168), developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "Microcephaly (HP:0000253), seizures (HP:0040168), developmental delay (HP:0001263)" "" "0000122632" "00198" "00150230" "00006" "Unknown" "" "intellectual diability, microcephaly, cortical atrophy, CCH, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000122633" "00198" "00150231" "00006" "Unknown" "" "intellectual diability, microcephaly, cortical atrophy, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000257302" "05376" "00361906" "03219" "Familial, autosomal recessive" "" "Global developmental delay, seizures, spasticity, microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000257303" "05129" "00361906" "03219" "Familial, autosomal recessive" "" "T2W focal hyperintensities suggestive of calcifications on MRI" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000150960" "00150104" "1" "01581" "01581" "2018-01-10 00:56:36" "" "" "SEQ-NG" "DNA" "" "Whole Exome Sequencing" "0000151085" "00150230" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000151086" "00150231" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000363134" "00361906" "1" "03219" "03219" "2021-04-12 07:06:51" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000151085" "VARS" "0000151086" "VARS" ## 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 = 17 "{{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}}" "0000244105" "21" "90" "6" "31747481" "31747481" "subst" "0" "01581" "VARS_000001" "g.31747481C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.31779704C>T" "" "pathogenic" "" "0000244106" "0" "90" "6" "31752087" "31752087" "subst" "0" "01581" "VARS_000002" "g.31752087T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.31784310T>C" "" "pathogenic" "" "0000244253" "3" "90" "6" "31748712" "31748712" "subst" "0" "00006" "VARS_000004" "g.31748712G>A" "" "{PMID:Karaca 2015:26539891}" "" "NM_006295: c.C2653T; p.L885F" "" "Germline" "" "" "0" "" "" "g.31780935G>A" "" "pathogenic" "" "0000244254" "3" "90" "6" "31747500" "31747500" "subst" "4.15303E-6" "00006" "VARS_000003" "g.31747500C>T" "" "{PMID:Karaca 2015:26539891}" "" "NM_006295: c.G3173A; p.R1058Q" "" "Germline" "" "" "0" "" "" "g.31779723C>T" "" "pathogenic" "" "0000313613" "0" "50" "6" "31760767" "31760767" "subst" "8.25777E-6" "02329" "VARS_000006" "g.31760767C>A" "" "" "" "VARS1(NM_006295.3):c.518G>T (p.R173L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31792990C>A" "" "VUS" "" "0000319501" "0" "50" "6" "31752277" "31752277" "subst" "4.06154E-6" "01943" "VARS_000005" "g.31752277C>T" "" "" "" "VARS(NM_006295.2):c.1470G>A (p.V490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31784500C>T" "" "VUS" "" "0000610264" "0" "30" "6" "31762724" "31762724" "subst" "0" "01804" "LSM2_000001" "g.31762724G>C" "" "" "" "VARS(NM_006295.2):c.271C>G (p.(Arg91Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31794947G>C" "" "likely benign" "" "0000720828" "0" "50" "6" "31747903" "31747903" "subst" "0" "02329" "VARS_000009" "g.31747903G>A" "" "" "" "VARS1(NM_006295.3):c.2953C>T (p.R985C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720829" "0" "50" "6" "31750542" "31750542" "subst" "0.000618838" "02329" "VARS_000010" "g.31750542T>C" "" "" "" "VARS1(NM_006295.3):c.1843A>G (p.M615V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763572" "11" "90" "6" "31750126" "31750126" "subst" "8.73464E-5" "03219" "VARS_000011" "g.31750126C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "ACMG" "0000763573" "21" "70" "6" "31746775" "31746775" "subst" "0" "03219" "VARS_000012" "g.31746775G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "ACMG" "0000977157" "0" "30" "6" "31744580" "31744580" "subst" "0" "01804" "VARS_000014" "g.31744580C>G" "" "" "" "VWA7(NM_025258.3):c.-15-9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977158" "0" "30" "6" "31753423" "31753423" "subst" "0.0229934" "01804" "VARS_000015" "g.31753423T>C" "" "" "" "VARS(NM_006295.3):c.1188A>G (p.(Leu396=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995653" "0" "50" "6" "31747238" "31747238" "subst" "5.00726E-5" "01804" "VARS_000016" "g.31747238G>A" "" "" "" "VARS(NM_006295.2):c.3364C>T (p.(Arg1122Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995654" "0" "50" "6" "31752421" "31752421" "subst" "3.30221E-5" "01804" "VARS_000017" "g.31752421C>T" "" "" "" "VARS(NM_006295.2):c.1418G>A (p.(Arg473His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995655" "0" "50" "6" "31759391" "31759391" "subst" "0" "01804" "VARS_000018" "g.31759391G>A" "" "" "" "VARS(NM_006295.2):c.1096C>T (p.(Arg366*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995656" "0" "30" "6" "31762624" "31762624" "subst" "0.000272697" "01804" "LSM2_000002" "g.31762624G>A" "" "" "" "VARS(NM_006295.2):c.371C>T (p.(Ser124Leu))" "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 VARS ## Count = 17 "{{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}}" "0000244105" "00022556" "90" "3192" "0" "3192" "0" "c.3192G>A" "r.(?)" "p.(Met1064Ile)" "27" "0000244106" "00022556" "90" "1577" "-2" "1577" "-2" "c.1577-2A>G" "r.spl" "p.?" "12i" "0000244253" "00022556" "90" "2653" "0" "2653" "0" "c.2653C>T" "r.(?)" "p.(Leu885Phe)" "" "0000244254" "00022556" "90" "3173" "0" "3173" "0" "c.3173G>A" "r.(?)" "p.(Arg1058Gln)" "" "0000313613" "00022556" "50" "518" "0" "518" "0" "c.518G>T" "r.(?)" "p.(Arg173Leu)" "" "0000319501" "00022556" "50" "1470" "0" "1470" "0" "c.1470G>A" "r.(?)" "p.(Val490=)" "" "0000610264" "00022556" "30" "271" "0" "271" "0" "c.271C>G" "r.(?)" "p.(Arg91Gly)" "" "0000720828" "00022556" "50" "2953" "0" "2953" "0" "c.2953C>T" "r.(?)" "p.(Arg985Cys)" "" "0000720829" "00022556" "50" "1843" "0" "1843" "0" "c.1843A>G" "r.(?)" "p.(Met615Val)" "" "0000763572" "00022556" "90" "2086" "0" "2086" "0" "c.2086G>C" "r.(?)" "p.(Gly696Arg)" "" "0000763573" "00022556" "70" "3695" "0" "3695" "0" "c.3695C>A" "r.(?)" "p.(Pro1232Gln)" "" "0000977157" "00022556" "30" "4586" "0" "4586" "0" "c.*791G>C" "r.(=)" "p.(=)" "" "0000977158" "00022556" "30" "1188" "0" "1188" "0" "c.1188A>G" "r.(?)" "p.(=)" "" "0000995653" "00022556" "50" "3364" "0" "3364" "0" "c.3364C>T" "r.(?)" "p.(Arg1122Trp)" "" "0000995654" "00022556" "50" "1418" "0" "1418" "0" "c.1418G>A" "r.(?)" "p.(Arg473His)" "" "0000995655" "00022556" "50" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Arg366*)" "" "0000995656" "00022556" "30" "371" "0" "371" "0" "c.371C>T" "r.(?)" "p.(Ser124Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000150960" "0000244105" "0000150960" "0000244106" "0000151085" "0000244253" "0000151086" "0000244254" "0000363134" "0000763572" "0000363134" "0000763573"