### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLIT3) # 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}}" "SLIT3" "slit homolog 3 (Drosophila)" "5" "q35" "unknown" "NG_033081.1" "NC_000005.9" "" "https://www.LOVD.nl/SLIT3" "" "1" "11087" "6586" "603745" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00008" "2012-06-04 00:00:00" "00006" "2017-11-10 19:59:15" "00000" "2025-05-05 21:14:00" ## 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}}" "00025444" "SLIT3" "transcript variant 2" "001" "NM_003062.3" "" "NP_003053.1" "" "" "" "-420" "9293" "4572" "168728133" "168088738" "00001" "2019-07-18 10:47:16" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLIT3" "05342" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00104972" "" "" "" "1" "" "00006" "{PMID:Bi 2012:22865819}, {DOI:Bi 2012:10.1002/humu.22174}" "" "" "" "" "" "0" "" "" "white" "22865819-PatH10121" "00132974" "" "" "" "1" "" "00006" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "Europe" "29100090-PatDC18" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00132974" "05342" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05342 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000082863" "00138" "00104972" "00006" "Unknown" "" "autism spectrum disorder" "" "" "" "" "" "" "" "" "0000105735" "05342" "00132974" "00006" "Unknown" "" "renal agenesis (right, vesicoureteral reflux, hydronephrosis, cysts, patent foramen ovale" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000105445" "00104972" "1" "00006" "00006" "2017-06-13 23:33:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000133808" "00132974" "1" "00006" "00006" "2017-11-10 19:57:14" "" "" "SEQ" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000105445" "SLIT3" "0000133808" "SLIT3" ## 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 = 25 "{{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}}" "0000001340" "0" "70" "5" "168250305" "168250305" "subst" "0" "00013" "SLIT3_000001" "g.168250305G>C" "1/67" "{PMID:Bi 2012:22865819}, {DOI:Bi 2012:10.1002/humu.22174}" "" "" "" "Unknown" "" "" "0" "" "" "g.168823300G>C" "" "likely pathogenic" "" "0000223236" "3" "90" "5" "168201342" "168201342" "del" "0" "00006" "SLIT3_000002" "g.168201342del" "" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "1193delC" "" "Germline" "" "" "0" "" "" "g.168774337del" "" "pathogenic" "" "0000254651" "0" "30" "5" "168620517" "168620517" "subst" "7.7286E-5" "01943" "SLIT3_000004" "g.168620517A>T" "" "" "" "SLIT3(NM_001271946.1):c.379T>A (p.L127M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169193513A>T" "" "likely benign" "" "0000330724" "0" "50" "5" "168093556" "168093556" "subst" "0.00163987" "01804" "SLIT3_000003" "g.168093556C>T" "" "" "" "SLIT3(NM_001271946.1):c.4496G>A (p.(Ser1499Asn)), SLIT3(NM_003062.3):c.4475G>A (p.S1492N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.168666551C>T" "" "VUS" "" "0000330725" "0" "50" "5" "168671777" "168671777" "subst" "0" "01804" "SLIT3_000005" "g.168671777A>T" "" "" "" "SLIT3(NM_001271946.1):c.273T>A (p.(His91Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169244773A>T" "" "VUS" "" "0000330726" "0" "50" "5" "168727530" "168727530" "subst" "0.000670268" "01804" "SLIT3_000006" "g.168727530T>A" "" "" "" "SLIT3(NM_001271946.1):c.184A>T (p.(Asn62Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169300526T>A" "" "VUS" "" "0000330727" "0" "50" "5" "168727578" "168727578" "subst" "0.00177203" "01804" "SLIT3_000007" "g.168727578C>G" "" "" "" "SLIT3(NM_001271946.1):c.136G>C (p.(Asp46His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169300574C>G" "" "VUS" "" "0000525133" "0" "50" "5" "168098406" "168098406" "subst" "0" "01943" "SLIT3_000008" "g.168098406C>G" "" "" "" "SLIT3(NM_001271946.1):c.3945G>C (p.E1315D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.168671401C>G" "" "VUS" "" "0000525134" "0" "30" "5" "168114030" "168114030" "subst" "0.000251813" "01943" "SLIT3_000009" "g.168114030C>T" "" "" "" "SLIT3(NM_001271946.1):c.3289G>A (p.V1097M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.168687025C>T" "" "likely benign" "" "0000525135" "0" "50" "5" "168222516" "168222516" "subst" "2.03138E-5" "02327" "SLIT3_000010" "g.168222516G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.168795511G>A" "" "VUS" "" "0000525136" "0" "30" "5" "168671780" "168671780" "subst" "8.9562E-5" "01943" "SLIT3_000011" "g.168671780C>T" "" "" "" "SLIT3(NM_001271946.1):c.270G>A (p.L90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169244776C>T" "" "likely benign" "" "0000802021" "0" "30" "5" "168112707" "168112707" "subst" "0.00166086" "02326" "SLIT3_000012" "g.168112707G>A" "" "" "" "SLIT3(NM_003062.3):c.3540C>T (p.A1180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850864" "0" "30" "5" "168093556" "168093556" "subst" "0.00163987" "02326" "SLIT3_000003" "g.168093556C>T" "" "" "" "SLIT3(NM_001271946.1):c.4496G>A (p.(Ser1499Asn)), SLIT3(NM_003062.3):c.4475G>A (p.S1492N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850865" "0" "30" "5" "168135089" "168135089" "subst" "0.0013036" "02326" "SLIT3_000013" "g.168135089G>A" "" "" "" "SLIT3(NM_003062.3):c.2736C>T (p.N912=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886732" "0" "30" "5" "168098250" "168098250" "subst" "0.00270598" "02326" "SLIT3_000014" "g.168098250G>A" "" "" "" "SLIT3(NM_003062.3):c.4080C>T (p.T1360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886733" "0" "30" "5" "168111021" "168111021" "subst" "0.00361784" "02326" "SLIT3_000015" "g.168111021G>A" "" "" "" "SLIT3(NM_003062.3):c.3636C>T (p.H1212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886734" "0" "30" "5" "168149315" "168149315" "subst" "0.00340896" "02326" "SLIT3_000016" "g.168149315C>T" "" "" "" "SLIT3(NM_003062.3):c.2429G>A (p.R810Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924294" "0" "30" "5" "168093525" "168093525" "subst" "0.00290414" "02326" "SLIT3_000017" "g.168093525C>T" "" "" "" "SLIT3(NM_003062.3):c.4506G>A (p.T1502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924295" "0" "30" "5" "168199772" "168199772" "subst" "0.00179175" "02326" "SLIT3_000018" "g.168199772C>T" "" "" "" "SLIT3(NM_003062.3):c.1459+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948518" "0" "30" "5" "168098331" "168098331" "subst" "0.00122588" "02326" "SLIT3_000019" "g.168098331C>T" "" "" "" "SLIT3(NM_003062.3):c.3999G>A (p.K1333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963550" "0" "30" "5" "168123346" "168123346" "subst" "0.000600986" "02326" "SLIT3_000020" "g.168123346G>A" "" "" "" "SLIT3(NM_003062.3):c.3033C>T (p.C1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976706" "0" "10" "5" "168112927" "168112927" "subst" "0.0154322" "01804" "SLIT3_000021" "g.168112927G>C" "" "" "" "SLIT3(NM_003062.4):c.3320C>G (p.(Pro1107Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025064" "0" "30" "5" "168175444" "168175444" "subst" "0" "02325" "SLIT3_000022" "g.168175444G>A" "" "" "" "SLIT3(NM_003062.4):c.2138-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035079" "0" "30" "5" "168175324" "168175324" "subst" "0.0471389" "01804" "SLIT3_000023" "g.168175324G>T" "" "" "" "SLIT3(NM_003062.4):c.2253C>A (p.(Pro751=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035080" "0" "30" "5" "168180047" "168180047" "subst" "0.00709528" "01804" "SLIT3_000024" "g.168180047C>T" "" "" "" "SLIT3(NM_003062.4):c.1886G>A (p.(Ser629Asn))" "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 SLIT3 ## Count = 25 "{{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}}" "0000001340" "00025444" "70" "589" "0" "589" "0" "c.589C>G" "r.(589c>g)" "p.(Leu197Val)" "07" "0000223236" "00025444" "90" "1193" "0" "1193" "0" "c.1193del" "r.(?)" "p.(Thr398Serfs*37)" "" "0000254651" "00025444" "30" "379" "0" "379" "0" "c.379T>A" "r.(?)" "p.(Leu127Met)" "" "0000330724" "00025444" "50" "4475" "0" "4475" "0" "c.4475G>A" "r.(?)" "p.(Ser1492Asn)" "" "0000330725" "00025444" "50" "273" "0" "273" "0" "c.273T>A" "r.(?)" "p.(His91Gln)" "" "0000330726" "00025444" "50" "184" "0" "184" "0" "c.184A>T" "r.(?)" "p.(Asn62Tyr)" "" "0000330727" "00025444" "50" "136" "0" "136" "0" "c.136G>C" "r.(?)" "p.(Asp46His)" "" "0000525133" "00025444" "50" "3924" "0" "3924" "0" "c.3924G>C" "r.(?)" "p.(Glu1308Asp)" "" "0000525134" "00025444" "30" "3268" "0" "3268" "0" "c.3268G>A" "r.(?)" "p.(Val1090Met)" "" "0000525135" "00025444" "50" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335Ter)" "" "0000525136" "00025444" "30" "270" "0" "270" "0" "c.270G>A" "r.(?)" "p.(Leu90=)" "" "0000802021" "00025444" "30" "3540" "0" "3540" "0" "c.3540C>T" "r.(?)" "p.(Ala1180=)" "" "0000850864" "00025444" "30" "4475" "0" "4475" "0" "c.4475G>A" "r.(?)" "p.(Ser1492Asn)" "" "0000850865" "00025444" "30" "2736" "0" "2736" "0" "c.2736C>T" "r.(?)" "p.(Asn912=)" "" "0000886732" "00025444" "30" "4080" "0" "4080" "0" "c.4080C>T" "r.(?)" "p.(Thr1360=)" "" "0000886733" "00025444" "30" "3636" "0" "3636" "0" "c.3636C>T" "r.(?)" "p.(His1212=)" "" "0000886734" "00025444" "30" "2429" "0" "2429" "0" "c.2429G>A" "r.(?)" "p.(Arg810Gln)" "" "0000924294" "00025444" "30" "4506" "0" "4506" "0" "c.4506G>A" "r.(?)" "p.(Thr1502=)" "" "0000924295" "00025444" "30" "1459" "14" "1459" "14" "c.1459+14G>A" "r.(=)" "p.(=)" "" "0000948518" "00025444" "30" "3999" "0" "3999" "0" "c.3999G>A" "r.(?)" "p.(=)" "" "0000963550" "00025444" "30" "3033" "0" "3033" "0" "c.3033C>T" "r.(?)" "p.(=)" "" "0000976706" "00025444" "10" "3320" "0" "3320" "0" "c.3320C>G" "r.(?)" "p.(Pro1107Arg)" "" "0001025064" "00025444" "30" "2138" "-5" "2138" "-5" "c.2138-5C>T" "r.spl?" "p.?" "" "0001035079" "00025444" "30" "2253" "0" "2253" "0" "c.2253C>A" "r.(?)" "p.(=)" "" "0001035080" "00025444" "30" "1886" "0" "1886" "0" "c.1886G>A" "r.(?)" "p.(Ser629Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000105445" "0000001340" "0000133808" "0000223236"