### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VANGL1) # 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}}" "VANGL1" "vang-like 1 (van gogh, Drosophila)" "1" "p13.1" "unknown" "NG_016548.1" "UD_132084551792" "" "https://www.LOVD.nl/VANGL1" "" "1" "15512" "81839" "610132" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/VANGL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-02-15 13:54:10" "00000" "2025-02-07 18:57:27" ## 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}}" "00025811" "VANGL1" "VANGL planar cell polarity protein 1, transcript variant 1" "001" "NM_138959.2" "" "NP_620409.1" "" "" "" "-271" "8420" "1575" "116184574" "116240845" "00006" "2023-02-15 13:53:29" "" "" ## 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" "00859" "SDAM" "Caudal regression syndrome" "AD" "600145" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00860" "NTD" "neural tube defects, susceptibility to (NTD)" "AD" "182940" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-11-19 16:44:17" "01417" "SLE" "lupus erythematosus, systemic, susceptibility to (SLE)" "AD" "152700" "" "" "" "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}}" "VANGL1" "00859" "VANGL1" "00860" ## 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}}" "00289487" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289488" "" "" "" "194" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289489" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304143" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00431573" "" "" "" "1" "" "00006" "{PMID:Jiang 2021:35028616}, {DOI:Jiang 2021:10.1016/j.xcrm.2021.100475}" "" "" "" "Australia" "" "0" "" "" "" "case/control" "00431574" "" "" "" "1" "" "01941" "{DOI:Alcantara-Ortigoza 2024:10.3390/children11060712}" "analysis 66 pediatric SLE cases with/without nephritis" "" "" "Mexico" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00289487" "00198" "00289488" "00198" "00289489" "00198" "00304143" "00198" "00431573" "01417" "00431574" "01417" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00859, 00860, 01417 ## Count = 0 ## 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}}" "0000290655" "00289487" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290656" "00289488" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290657" "00289489" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305272" "00304143" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000433006" "00431573" "1" "00006" "00006" "2023-02-15 14:00:44" "" "" "SEQ" "DNA" "" "" "0000433007" "00431574" "1" "00006" "00006" "2023-02-15 14:17:15" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000433006" "VANGL1" "0000433007" "VANGL1" ## 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 = 57 "{{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}}" "0000245385" "0" "10" "1" "116243868" "116243868" "subst" "0.0568469" "02330" "CASQ2_000047" "g.116243868A>G" "" "" "" "CASQ2(NM_001232.3):c.1194T>C (p.D398=), CASQ2(NM_001232.4):c.1194T>C (p.D398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115701247A>G" "" "benign" "" "0000245387" "0" "10" "1" "116245551" "116245551" "subst" "0.00516504" "02330" "CASQ2_000050" "g.116245551A>G" "" "" "" "CASQ2(NM_001232.3):c.1005T>C (p.N335=), CASQ2(NM_001232.4):c.1005T>C (p.N335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115702930A>G" "" "benign" "" "0000245539" "0" "30" "1" "116243843" "116243843" "subst" "0" "02330" "CASQ2_000045" "g.116243843A>G" "" "" "" "CASQ2(NM_001232.4):c.*19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115701222A>G" "" "likely benign" "" "0000250663" "0" "10" "1" "116243868" "116243868" "subst" "0.0568469" "02326" "CASQ2_000047" "g.116243868A>G" "" "" "" "CASQ2(NM_001232.3):c.1194T>C (p.D398=), CASQ2(NM_001232.4):c.1194T>C (p.D398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115701247A>G" "" "benign" "" "0000253015" "0" "10" "1" "116243868" "116243868" "subst" "0.0568469" "01943" "CASQ2_000047" "g.116243868A>G" "" "" "" "CASQ2(NM_001232.3):c.1194T>C (p.D398=), CASQ2(NM_001232.4):c.1194T>C (p.D398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115701247A>G" "" "benign" "" "0000253326" "0" "10" "1" "116245551" "116245551" "subst" "0.00516504" "01943" "CASQ2_000050" "g.116245551A>G" "" "" "" "CASQ2(NM_001232.3):c.1005T>C (p.N335=), CASQ2(NM_001232.4):c.1005T>C (p.N335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115702930A>G" "" "benign" "" "0000264281" "0" "10" "1" "116245533" "116245533" "subst" "0.00513294" "02330" "CASQ2_000049" "g.116245533G>A" "" "" "" "CASQ2(NM_001232.3):c.1014+9C>T, CASQ2(NM_001232.4):c.1014+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115702912G>A" "" "benign" "" "0000264282" "0" "10" "1" "116244050" "116244050" "subst" "2.85749E-5" "02330" "CASQ2_000048" "g.116244050G>A" "" "" "" "CASQ2(NM_001232.4):c.1015-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115701429G>A" "" "benign" "" "0000264283" "0" "10" "1" "116243877" "116243879" "del" "0" "02330" "CASQ2_000024" "g.116243877_116243879del" "" "" "" "CASQ2(NM_001232.3):c.1185_1187delCGA (p.D398del), CASQ2(NM_001232.4):c.1185_1187delCGA (p.D398del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115701256_115701258del" "" "benign" "" "0000264284" "0" "10" "1" "116243877" "116243877" "subst" "0.381314" "02330" "CASQ2_000041" "g.116243877G>A" "" "" "" "CASQ2(NM_001232.3):c.1185C>T (p.D395=), CASQ2(NM_001232.4):c.1185C>T (p.D395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115701256G>A" "" "benign" "" "0000264311" "0" "50" "1" "116245571" "116245571" "subst" "0.000220316" "02330" "CASQ2_000052" "g.116245571G>A" "" "" "" "CASQ2(NM_001232.3):c.985C>T (p.P329S), CASQ2(NM_001232.4):c.985C>T (p.P329S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115702950G>A" "" "VUS" "" "0000264312" "0" "50" "1" "116245568" "116245568" "subst" "4.07917E-6" "02330" "CASQ2_000051" "g.116245568G>A" "" "" "" "CASQ2(NM_001232.4):c.988C>T (p.Q330*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115702947G>A" "" "VUS" "" "0000266488" "0" "10" "1" "116243877" "116243877" "subst" "0.381314" "02325" "CASQ2_000041" "g.116243877G>A" "" "" "" "CASQ2(NM_001232.3):c.1185C>T (p.D395=), CASQ2(NM_001232.4):c.1185C>T (p.D395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115701256G>A" "" "benign" "" "0000269772" "0" "10" "1" "116245533" "116245533" "subst" "0.00513294" "02326" "CASQ2_000049" "g.116245533G>A" "" "" "" "CASQ2(NM_001232.3):c.1014+9C>T, CASQ2(NM_001232.4):c.1014+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115702912G>A" "" "benign" "" "0000269773" "0" "10" "1" "116243877" "116243879" "del" "0" "02326" "CASQ2_000024" "g.116243877_116243879del" "" "" "" "CASQ2(NM_001232.3):c.1185_1187delCGA (p.D398del), CASQ2(NM_001232.4):c.1185_1187delCGA (p.D398del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115701256_115701258del" "" "benign" "" "0000272652" "0" "10" "1" "116245533" "116245533" "subst" "0.00513294" "01943" "CASQ2_000049" "g.116245533G>A" "" "" "" "CASQ2(NM_001232.3):c.1014+9C>T, CASQ2(NM_001232.4):c.1014+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115702912G>A" "" "benign" "" "0000272653" "0" "10" "1" "116243928" "116243930" "del" "0" "01943" "CASQ2_000023" "g.116243928_116243930del" "" "" "" "CASQ2(NM_001232.3):c.1147_1149delGAT (p.D383del), CASQ2(NM_001232.4):c.1147_1149delGAT (p.D383del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115701307_115701309del" "" "benign" "" "0000272654" "0" "10" "1" "116243877" "116243877" "subst" "0.381314" "01943" "CASQ2_000041" "g.116243877G>A" "" "" "" "CASQ2(NM_001232.3):c.1185C>T (p.D395=), CASQ2(NM_001232.4):c.1185C>T (p.D395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115701256G>A" "" "benign" "" "0000272655" "0" "10" "1" "116243874" "116243876" "del" "0" "01943" "CASQ2_000046" "g.116243874_116243876del" "" "" "" "CASQ2(NM_001232.3):c.1194_1196delCGA (p.D398del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115701253_115701255del" "" "benign" "" "0000319498" "0" "30" "1" "116233896" "116233896" "subst" "2.43643E-5" "01943" "VANGL1_000002" "g.116233896G>A" "" "" "" "VANGL1(NM_138959.2):c.1471G>A (p.V491I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115691275G>A" "" "likely benign" "" "0000319499" "0" "30" "1" "116206842" "116206842" "subst" "6.55593E-5" "01943" "VANGL1_000001" "g.116206842C>T" "" "" "" "VANGL1(NM_138959.2):c.765C>T (p.V255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115664221C>T" "" "likely benign" "" "0000502592" "0" "30" "1" "116206600" "116206600" "subst" "0.000580664" "02325" "VANGL1_000003" "g.116206600C>T" "" "" "" "VANGL1(NM_138959.3):c.523C>T (p.R175W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115663979C>T" "" "likely benign" "" "0000502593" "0" "30" "1" "116243877" "116243879" "del" "0" "01943" "CASQ2_000024" "g.116243877_116243879del" "" "" "" "CASQ2(NM_001232.3):c.1185_1187delCGA (p.D398del), CASQ2(NM_001232.4):c.1185_1187delCGA (p.D398del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115701256_115701258del" "" "likely benign" "" "0000502595" "0" "30" "1" "116243877" "116243879" "del" "0" "02327" "CASQ2_000024" "g.116243877_116243879del" "" "" "" "CASQ2(NM_001232.3):c.1185_1187delCGA (p.D398del), CASQ2(NM_001232.4):c.1185_1187delCGA (p.D398del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115701256_115701258del" "" "likely benign" "" "0000502596" "0" "50" "1" "116243928" "116243930" "del" "0" "02330" "CASQ2_000023" "g.116243928_116243930del" "" "" "" "CASQ2(NM_001232.3):c.1147_1149delGAT (p.D383del), CASQ2(NM_001232.4):c.1147_1149delGAT (p.D383del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115701307_115701309del" "" "VUS" "" "0000502597" "0" "50" "1" "116245571" "116245571" "subst" "0.000220316" "01943" "CASQ2_000052" "g.116245571G>A" "" "" "" "CASQ2(NM_001232.3):c.985C>T (p.P329S), CASQ2(NM_001232.4):c.985C>T (p.P329S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115702950G>A" "" "VUS" "" "0000502598" "0" "50" "1" "116245571" "116245571" "subst" "0.000220316" "02327" "CASQ2_000052" "g.116245571G>A" "" "" "" "CASQ2(NM_001232.3):c.985C>T (p.P329S), CASQ2(NM_001232.4):c.985C>T (p.P329S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115702950G>A" "" "VUS" "" "0000502599" "0" "10" "1" "116245655" "116245655" "subst" "0.216712" "02327" "CASQ2_000101" "g.116245655G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115703034G>C" "" "benign" "" "0000604680" "0" "50" "1" "116245568" "116245568" "subst" "1.22375E-5" "01943" "CASQ2_000123" "g.116245568G>C" "" "" "" "CASQ2(NM_001232.3):c.988C>G (p.Q330E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115702947G>C" "" "VUS" "" "0000620357" "0" "30" "1" "116228022" "116228022" "subst" "1.21862E-5" "02325" "VANGL1_000004" "g.116228022C>T" "" "" "" "VANGL1(NM_138959.3):c.1188C>T (p.A396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115685401C>T" "" "likely benign" "" "0000620358" "0" "30" "1" "116244012" "116244012" "subst" "8.13756E-6" "02326" "CASQ2_000122" "g.116244012G>A" "" "" "" "CASQ2(NM_001232.3):c.1050C>T (p.D350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115701391G>A" "" "likely benign" "" "0000647344" "1" "50" "1" "116224993" "116224993" "subst" "2.031E-5" "03575" "VANGL1_000005" "g.116224993G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "risk factor; 1 heterozygous, no homozygous; {DB:CLININrs121918219}" "Germline" "" "rs121918219" "0" "" "" "g.115682372G>A" "" "VUS" "" "0000647345" "1" "30" "1" "116236581" "116236581" "subst" "0" "03575" "VANGL1_000006" "g.116236581G>A" "194/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "194 heterozygous; {DB:CLININrs3811008}" "Germline" "" "rs3811008" "0" "" "" "g.115693960G>A" "" "likely benign" "" "0000647346" "1" "30" "1" "116237336" "116237336" "subst" "0" "03575" "VANGL1_000007" "g.116237336G>A" "15/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous, no homozygous; {DB:CLININrs61732170}" "Germline" "" "rs61732170" "0" "" "" "g.115694715G>A" "" "likely benign" "" "0000668960" "3" "30" "1" "116236581" "116236581" "subst" "0" "03575" "VANGL1_000006" "g.116236581G>A" "3/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs3811008}" "Germline" "" "rs3811008" "0" "" "" "g.115693960G>A" "" "likely benign" "" "0000675412" "0" "50" "1" "116206717" "116206717" "subst" "0.000402044" "01943" "VANGL1_000008" "g.116206717C>T" "" "" "" "VANGL1(NM_138959.2):c.640C>T (p.R214W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675413" "0" "50" "1" "116226673" "116226673" "subst" "0" "01943" "VANGL1_000009" "g.116226673G>A" "" "" "" "VANGL1(NM_138959.2):c.1055G>A (p.R352Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716704" "0" "50" "1" "116233974" "116233974" "subst" "0.000162503" "02325" "VANGL1_000010" "g.116233974C>T" "" "" "" "VANGL1(NM_138959.3):c.1549C>T (p.R517C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848242" "0" "30" "1" "116243928" "116243928" "subst" "0" "01943" "CASQ2_000138" "g.116243928A>T" "" "" "" "CASQ2(NM_001232.3):c.1134T>A (p.D378E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848243" "0" "30" "1" "116245551" "116245551" "subst" "0.00516504" "02327" "CASQ2_000050" "g.116245551A>G" "" "" "" "CASQ2(NM_001232.3):c.1005T>C (p.N335=), CASQ2(NM_001232.4):c.1005T>C (p.N335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856892" "0" "50" "1" "116243928" "116243930" "dup" "0" "01943" "CASQ2_000139" "g.116243928_116243930dup" "" "" "" "CASQ2(NM_001232.3):c.1147_1149dupGAT (p.D383dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882698" "0" "30" "1" "116206829" "116206829" "subst" "5.31584E-5" "02325" "VANGL1_000011" "g.116206829C>T" "" "" "" "VANGL1(NM_138959.3):c.752C>T (p.T251M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882699" "0" "50" "1" "116244010" "116244010" "subst" "4.8811E-5" "02327" "CASQ2_000022" "g.116244010T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918418" "3" "30" "1" "116229487" "116232843" "del" "0" "01941" "VANGL1_000013" "g.116229487_116232843del" "0.29" "{DOI:Alcantara-Ortigoza 2024:10.3390/children11060712}" "" "" "3.3 kb deletion intron 7 oVANGL1 investigated in 66 pediatric Mexican patients with juvenile systemic lupus erythematosus (SLE) with or without nephritis, allelic frequency of 0.29 in patients, 0.23 in 181 related healthy controls; breakpoint was delimited by Sanger sequencing identical in all patients and controls" "Germline" "-" "" "0" "" "" "g.115686866_115690222del" "" "association" "ACMG" "0000918638" "0" "50" "1" "116229389" "116232559" "del" "0" "00006" "VANGL1_000012" "g.116229389_116232559del" "" "{PMID:Jiang 2021:35028616}, {DOI:Jiang 2021:10.1016/j.xcrm.2021.100475}" "" "hg18 116030911-116034081del" "3.3kb deletion; in SLE cohort 18 homozygous, 41 heterozygous and 119 no deletion" "Germline" "" "" "0" "" "" "g.115686768_115689938del" "" "association" "" "0000922920" "0" "50" "1" "116243953" "116243953" "subst" "0" "02325" "CASQ2_000146" "g.116243953A>G" "" "" "" "CASQ2(NM_001232.4):c.1109T>C (p.I370T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973197" "0" "50" "1" "116206388" "116206388" "subst" "0" "01804" "VANGL1_000014" "g.116206388G>A" "" "" "" "VANGL1(NM_138959.3):c.311G>A (p.(Gly104Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973198" "0" "30" "1" "116206594" "116206594" "subst" "5.68482E-5" "01804" "VANGL1_000015" "g.116206594C>T" "" "" "" "VANGL1(NM_138959.3):c.517C>T (p.(Arg173Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973199" "0" "50" "1" "116206768" "116206768" "subst" "0" "01804" "VANGL1_000016" "g.116206768C>T" "" "" "" "VANGL1(NM_138959.3):c.691C>T (p.(Leu231Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973200" "0" "30" "1" "116228006" "116228006" "subst" "0.000170682" "01804" "VANGL1_000017" "g.116228006G>T" "" "" "" "VANGL1(NM_138959.3):c.1172G>T (p.(Arg391Met), p.R391M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973201" "0" "30" "1" "116233737" "116233737" "subst" "0" "01804" "VANGL1_000018" "g.116233737C>T" "" "" "" "VANGL1(NM_138959.3):c.1315-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990137" "0" "30" "1" "116194111" "116194111" "subst" "0" "01804" "VANGL1_000019" "g.116194111T>G" "" "" "" "VANGL1(NM_138959.2):c.71+6T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990138" "0" "50" "1" "116202332" "116202332" "subst" "0" "01804" "VANGL1_000020" "g.116202332A>G" "" "" "" "VANGL1(NM_138959.2):c.142A>G (p.(Ile48Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990139" "0" "50" "1" "116206792" "116206792" "subst" "4.88715E-5" "01804" "VANGL1_000021" "g.116206792G>A" "" "" "" "VANGL1(NM_138959.2):c.715G>A (p.(Val239Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990140" "0" "50" "1" "116233816" "116233816" "subst" "0" "01804" "VANGL1_000022" "g.116233816G>A" "" "" "" "VANGL1(NM_138959.2):c.1391G>A (p.(Arg464Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990141" "0" "50" "1" "116233954" "116233954" "subst" "2.03084E-5" "01804" "VANGL1_000023" "g.116233954A>G" "" "" "" "VANGL1(NM_138959.2):c.1529A>G (p.(Lys510Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024013" "0" "30" "1" "116228006" "116228006" "subst" "0.000170682" "02325" "VANGL1_000017" "g.116228006G>T" "" "" "" "VANGL1(NM_138959.3):c.1172G>T (p.(Arg391Met), p.R391M)" "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 VANGL1 ## Count = 57 "{{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}}" "0000245385" "00025811" "10" "11443" "0" "11443" "0" "c.*9868A>G" "r.(=)" "p.(=)" "" "0000245387" "00025811" "10" "13126" "0" "13126" "0" "c.*11551A>G" "r.(=)" "p.(=)" "" "0000245539" "00025811" "30" "11418" "0" "11418" "0" "c.*9843A>G" "r.(=)" "p.(=)" "" "0000250663" "00025811" "10" "11443" "0" "11443" "0" "c.*9868A>G" "r.(=)" "p.(=)" "" "0000253015" "00025811" "10" "11443" "0" "11443" "0" "c.*9868A>G" "r.(=)" "p.(=)" "" "0000253326" "00025811" "10" "13126" "0" "13126" "0" "c.*11551A>G" "r.(=)" "p.(=)" "" "0000264281" "00025811" "10" "13108" "0" "13108" "0" "c.*11533G>A" "r.(=)" "p.(=)" "" "0000264282" "00025811" "10" "11625" "0" "11625" "0" "c.*10050G>A" "r.(=)" "p.(=)" "" "0000264283" "00025811" "10" "11452" "0" "11454" "0" "c.*9877_*9879del" "r.(=)" "p.(=)" "" "0000264284" "00025811" "10" "11452" "0" "11452" "0" "c.*9877G>A" "r.(=)" "p.(=)" "" "0000264311" "00025811" "50" "13146" "0" "13146" "0" "c.*11571G>A" "r.(=)" "p.(=)" "" "0000264312" "00025811" "50" "13143" "0" "13143" "0" "c.*11568G>A" "r.(=)" "p.(=)" "" "0000266488" "00025811" "10" "11452" "0" "11452" "0" "c.*9877G>A" "r.(=)" "p.(=)" "" "0000269772" "00025811" "10" "13108" "0" "13108" "0" "c.*11533G>A" "r.(=)" "p.(=)" "" "0000269773" "00025811" "10" "11452" "0" "11454" "0" "c.*9877_*9879del" "r.(=)" "p.(=)" "" "0000272652" "00025811" "10" "13108" "0" "13108" "0" "c.*11533G>A" "r.(=)" "p.(=)" "" "0000272653" "00025811" "10" "11503" "0" "11505" "0" "c.*9928_*9930del" "r.(=)" "p.(=)" "" "0000272654" "00025811" "10" "11452" "0" "11452" "0" "c.*9877G>A" "r.(=)" "p.(=)" "" "0000272655" "00025811" "10" "11449" "0" "11451" "0" "c.*9874_*9876del" "r.(=)" "p.(=)" "" "0000319498" "00025811" "30" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Val491Ile)" "" "0000319499" "00025811" "30" "765" "0" "765" "0" "c.765C>T" "r.(?)" "p.(Val255=)" "" "0000502592" "00025811" "30" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Arg175Trp)" "" "0000502593" "00025811" "30" "11452" "0" "11454" "0" "c.*9877_*9879del" "r.(=)" "p.(=)" "" "0000502595" "00025811" "30" "11452" "0" "11454" "0" "c.*9877_*9879del" "r.(=)" "p.(=)" "" "0000502596" "00025811" "50" "11503" "0" "11505" "0" "c.*9928_*9930del" "r.(=)" "p.(=)" "" "0000502597" "00025811" "50" "13146" "0" "13146" "0" "c.*11571G>A" "r.(=)" "p.(=)" "" "0000502598" "00025811" "50" "13146" "0" "13146" "0" "c.*11571G>A" "r.(=)" "p.(=)" "" "0000502599" "00025811" "10" "13230" "0" "13230" "0" "c.*11655G>C" "r.(=)" "p.(=)" "" "0000604680" "00025811" "50" "13143" "0" "13143" "0" "c.*11568G>C" "r.(=)" "p.(=)" "" "0000620357" "00025811" "30" "1188" "0" "1188" "0" "c.1188C>T" "r.(?)" "p.(Ala396=)" "" "0000620358" "00025811" "30" "11587" "0" "11587" "0" "c.*10012G>A" "r.(=)" "p.(=)" "" "0000647344" "00025811" "50" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Gln)" "" "0000647345" "00025811" "30" "4156" "0" "4156" "0" "c.*2581G>A" "r.(=)" "p.(=)" "" "0000647346" "00025811" "30" "4911" "0" "4911" "0" "c.*3336G>A" "r.(=)" "p.(=)" "" "0000668960" "00025811" "30" "4156" "0" "4156" "0" "c.*2581G>A" "r.(=)" "p.(=)" "" "0000675412" "00025811" "50" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Arg214Trp)" "" "0000675413" "00025811" "50" "1055" "0" "1055" "0" "c.1055G>A" "r.(?)" "p.(Arg352Gln)" "" "0000716704" "00025811" "50" "1549" "0" "1549" "0" "c.1549C>T" "r.(?)" "p.(Arg517Cys)" "" "0000848242" "00025811" "30" "11503" "0" "11503" "0" "c.*9928A>T" "r.(=)" "p.(=)" "" "0000848243" "00025811" "30" "13126" "0" "13126" "0" "c.*11551A>G" "r.(=)" "p.(=)" "" "0000856892" "00025811" "50" "11503" "0" "11505" "0" "c.*9928_*9930dup" "r.(=)" "p.(=)" "" "0000882698" "00025811" "30" "752" "0" "752" "0" "c.752C>T" "r.(?)" "p.(Thr251Met)" "" "0000882699" "00025811" "50" "11585" "0" "11585" "0" "c.*10010T>C" "r.(=)" "p.(=)" "" "0000918418" "00025811" "30" "1314" "1339" "1315" "-897" "c.1314+1339_1315-897del" "r.(=)" "p.(=)" "" "0000918638" "00025811" "50" "1314" "1241" "1315" "-1181" "c.(?_1314+1241)_(1315-1181_?)del" "r.(?)" "p.(=)" "7i" "0000922920" "00025811" "50" "11528" "0" "11528" "0" "c.*9953A>G" "r.(=)" "p.(=)" "" "0000973197" "00025811" "50" "311" "0" "311" "0" "c.311G>A" "r.(?)" "p.(Gly104Glu)" "" "0000973198" "00025811" "30" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(Arg173Cys)" "" "0000973199" "00025811" "50" "691" "0" "691" "0" "c.691C>T" "r.(?)" "p.(Leu231Phe)" "" "0000973200" "00025811" "30" "1172" "0" "1172" "0" "c.1172G>T" "r.(?)" "p.(Arg391Met)" "" "0000973201" "00025811" "30" "1315" "-3" "1315" "-3" "c.1315-3C>T" "r.spl?" "p.?" "" "0000990137" "00025811" "30" "71" "6" "71" "6" "c.71+6T>G" "r.(=)" "p.(=)" "" "0000990138" "00025811" "50" "142" "0" "142" "0" "c.142A>G" "r.(?)" "p.(Ile48Val)" "" "0000990139" "00025811" "50" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Val239Ile)" "" "0000990140" "00025811" "50" "1391" "0" "1391" "0" "c.1391G>A" "r.(?)" "p.(Arg464Lys)" "" "0000990141" "00025811" "50" "1529" "0" "1529" "0" "c.1529A>G" "r.(?)" "p.(Lys510Arg)" "" "0001024013" "00025811" "30" "1172" "0" "1172" "0" "c.1172G>T" "r.(?)" "p.(Arg391Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000290655" "0000647344" "0000290656" "0000647345" "0000290657" "0000647346" "0000305272" "0000668960" "0000433006" "0000918638" "0000433007" "0000918418"