### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VAV3) # 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}}" "VAV3" "vav 3 guanine nucleotide exchange factor" "1" "p13.3" "unknown" "NC_000001.10" "UD_132319130953" "" "http://www.LOVD.nl/VAV3" "" "1" "12659" "10451" "605541" "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/VAV3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-08-30 12:24:30" "00000" "2021-09-17 14:40:49" ## 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}}" "00022566" "VAV3" "transcript variant 1" "001" "NM_006113.4" "" "NP_006104.4" "" "" "" "-54" "4715" "2544" "108507545" "108113782" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00212" "SCZD" "schizophrenia (SCZD)" "AD" "181500" "" "" "" "00006" "2013-09-24 21:08:12" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00079969" "" "" "" "7" "" "01742" "{PMID:Aleksic 2013:22416266}" "screening 321 schizophrenic patients" "" "" "Japan" "" "0" "" "" "" "" "00081746" "" "" "" "1" "" "00006" "{PMID:Aleksic 2013:22416266}" "" "F;M" "" "Japan" "" "0" "" "" "" "" "00081747" "" "" "" "2" "" "00006" "{PMID:Aleksic 2013:22416266}" "screening 321 schizophrenic patients" "" "" "Japan" "" "0" "" "" "" "" "00081748" "" "" "" "1" "" "00006" "{PMID:Aleksic 2013:22416266}" "screening 321 schizophrenic patients" "" "" "Japan" "" "0" "" "" "" "" "00081749" "" "" "" "3" "" "00006" "{PMID:Aleksic 2013:22416266}" "screening 321 schizophrenic patients" "" "" "Japan" "" "0" "" "" "" "" "00103992" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-025A" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00079969" "00212" "00081746" "00212" "00081747" "00212" "00081748" "00212" "00081749" "00212" "00103992" "03381" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00212, 03381 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000061449" "00212" "00079969" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000061451" "00212" "00081746" "00006" "Unknown" "" "variant associated with schizophrenia, volume left superior (P=0.011)/middle temporal gyri (P=0.013)" "" "" "" "" "" "" "" "" "" "" "0000081926" "03381" "00103992" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080048" "00079969" "1" "01742" "01742" "2016-08-29 15:03:11" "00006" "2016-10-22 17:07:03" "arraySEQ" "DNA" "" "" "0000081876" "00081746" "1" "00006" "00006" "2016-10-22 16:33:40" "00006" "2016-10-22 17:11:56" "SEQ" "DNA" "" "" "0000081877" "00081747" "1" "00006" "00006" "2016-10-22 16:33:40" "00006" "2016-10-22 17:26:09" "SEQ" "DNA" "" "" "0000081878" "00081748" "1" "00006" "00006" "2016-10-22 16:33:40" "00006" "2016-10-22 17:30:25" "SEQ" "DNA" "" "" "0000081879" "00081749" "1" "00006" "00006" "2016-10-22 16:33:40" "00006" "2016-10-22 17:33:46" "SEQ" "DNA" "" "" "0000104463" "00103992" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000080048" "VAV3" "0000081876" "VAV3" "0000081877" "VAV3" "0000081878" "VAV3" "0000081879" "VAV3" ## 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 = 7 "{{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}}" "0000128924" "1" "70" "1" "108138962" "108138962" "subst" "0.000247983" "01742" "VAV3_000001" "g.108138962T>C" "7/321 cases" "{PMID:Aleksic 2013:22416266}" "" "" "associated with schizophrenia (P=0.02)" "Germline" "-" "" "0" "" "" "g.107596340T>C" "" "likely pathogenic" "" "0000132640" "3" "50" "1" "108123685" "108123685" "subst" "0" "00006" "VAV3_000002" "g.108123685C>T" "" "{PMID:Aleksic 2013:22416266}" "" "" "associated with schizophrenia and reduced volume left superior (P=0.011) and middle temporal gyri (P=0.013)" "Germline" "yes" "rs1410403" "0" "" "" "g.107581063C>T" "" "VUS" "" "0000132641" "1" "50" "1" "108185287" "108185287" "subst" "0" "00006" "VAV3_000003" "g.108185287T>A" "2/321 cases" "{PMID:Aleksic 2013:22416266}" "" "" "" "Germline" "-" "" "0" "" "" "g.107642665T>A" "" "VUS" "" "0000132642" "1" "50" "1" "108145748" "108145748" "subst" "9.36314E-5" "00006" "VAV3_000004" "g.108145748C>T" "1/321 cases" "{PMID:Aleksic 2013:22416266}" "" "" "" "Germline" "-" "" "0" "" "" "g.107603126C>T" "" "VUS" "" "0000132643" "1" "50" "1" "108145688" "108145688" "subst" "5.70409E-5" "00006" "VAV3_000005" "g.108145688C>T" "3/321 cases" "{PMID:Aleksic 2013:22416266}" "" "" "" "Germline" "-" "" "0" "" "" "g.107603066C>T" "" "VUS" "" "0000169258" "0" "70" "1" "108303461" "108303461" "subst" "5.28318E-5" "00587" "VAV3_000006" "g.108303461C>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_006113.4(VAV3):c.962G>A p.(Arg321Gln)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.107760839C>T" "" "likely pathogenic" "" "0000252000" "0" "30" "1" "108160272" "108160272" "del" "0" "02326" "VAV3_000007" "g.108160272del" "" "" "" "VAV3(NM_006113.5):c.1915-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107617650del" "" "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 VAV3 ## Count = 7 "{{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}}" "0000128924" "00022566" "70" "2222" "0" "2222" "0" "c.2222A>G" "r.(2222a>g)" "p.(Glu741Gly)" "25" "0000132640" "00022566" "50" "2351" "-6865" "2351" "-6865" "c.2351-6865G>A" "r.(?)" "p.(=)" "25i" "0000132641" "00022566" "50" "1868" "0" "1868" "0" "c.1868A>T" "r.(?)" "p.(Asp623Val)" "20" "0000132642" "00022566" "50" "2053" "0" "2053" "0" "c.2053G>A" "r.(?)" "p.(Glu685Lys)" "23" "0000132643" "00022566" "50" "2113" "0" "2113" "0" "c.2113G>A" "r.(?)" "p.(Glu705Lys)" "23" "0000169258" "00022566" "00" "962" "0" "962" "0" "c.962G>A" "r.(?)" "p.(Arg321Gln)" "" "0000252000" "00022566" "30" "1915" "-7" "1915" "-7" "c.1915-7del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000080048" "0000128924" "0000081876" "0000132640" "0000081877" "0000132641" "0000081878" "0000132642" "0000081879" "0000132643" "0000104463" "0000169258"