### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ROBO2) # 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}}" "ROBO2" "roundabout, axon guidance receptor, homolog 2 (Drosophila)" "3" "p12.3" "unknown" "NG_027734.1" "UD_132118373648" "" "http://www.LOVD.nl/ROBO2" "" "1" "10250" "6092" "602431" "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/ROBO2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2015-09-21 16:32:57" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00000908" "ROBO2" "transcript variant 1" "001" "NM_001128929.2" "" "NP_001122401.1" "" "" "" "-280" "8094" "4185" "75955845" "77699115" "00000" "2012-09-13 12:58:32" "" "" "00025887" "ROBO2" "transcript variant 23" "000" "NM_001395656.1" "" "NP_001382585.1" "" "" "" "-687" "8331" "4422" "77089250" "77699115" "00006" "2023-12-03 09:52:40" "" "" ## 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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02990" "VUR2" "reflux, vesicoureteral, type 2 (VUR-2)" "AD" "610878" "" "" "" "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 = 1 "{{geneid}}" "{{diseaseid}}" "ROBO2" "02990" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00050100" "" "" "" "2" "" "00006" "{PMID:Lu 2007:17357069}, {DOI:Lu 2007:10.1086/512735}" "2-generation family, affected mother/daugther" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050101" "" "" "" "5" "" "00006" "{PMID:Lu 2007:17357069}, {DOI:Lu 2007:10.1086/512735}" "3-generation family, 5 affecteds (duagther, mother, 2 aunts, grandmother)" "F" "no" "Netherlands" "" "0" "" "" "" "" "00050102" "" "" "" "3" "" "00006" "{PMID:Lu 2007:17357069}, {DOI:Lu 2007:10.1086/512735}" "276 controls and 124 CAKUT/VUR probands" "" "" "" "" "0" "" "" "" "" "00050103" "" "" "" "1" "" "00006" "{PMID:Lu 2007:17357069}, {DOI:Lu 2007:10.1086/512735}" "" "M" "" "" ">18y" "0" "" "" "" "" "00293473" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00443814" "" "" "" "1" "" "00006" "{PMID:Imafidon 2021:34136434}" "prenatal indication abnormal ultrasound" "M" "" "Netherlands" "" "0" "" "" "" "Pat617" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00050100" "02990" "00050101" "02990" "00050103" "02990" "00293473" "00198" "00443814" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 02990 ## 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}}" "0000036715" "02990" "00050100" "00006" "Familial, autosomal dominant" "" "see paper; congenital anomalies kidney and urinary tract incl. vesicoureteral reflux; daugther bilateral VUR, hypoplastic\r\nkidneys, nephropathy; mother required ureteral reimplantation for severe VUR; ..." "" "" "" "" "" "" "" "" "" "" "" "0000036716" "02990" "00050101" "00006" "Familial, autosomal dominant" "" "see paper; proband bilateral VUR, right duplex collecting system and kidney; mother and two aunts urinary tract symptoms, ultrasonographical evidence of CAKUT; grandmother unilateral small kidney; ..." "" "" "" "" "" "" "" "" "" "" "" "0000036717" "02990" "00050103" "00006" "Isolated (sporadic)" "" "see paper; bilateral high-grade VUR, right\r\nmegaureter at UVJ; 9y-required ureteral reimplantation surgery; wide-open right/left ureteral orifices due to bilateral absence of intravesical ureteral\r\nsegments, ..." "" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000333091" "00198" "00443814" "00006" "Isolated (sporadic)" "" "multiple abnormalities of the vertebrae, dysmorphic features" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000050042" "00050100" "1" "00006" "00006" "2015-09-21 20:16:13" "" "" "SEQ" "DNA" "" "" "0000050043" "00050101" "1" "00006" "00006" "2015-09-21 20:29:25" "" "" "SEQ" "DNA" "" "" "0000050044" "00050102" "1" "00006" "00006" "2015-09-21 20:52:05" "" "" "SEQ" "DNA" "" "" "0000050045" "00050103" "1" "00006" "00006" "2015-09-21 21:26:29" "00006" "2015-09-22 16:08:11" "FISH;PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000294641" "00293473" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000445311" "00443814" "1" "00006" "00006" "2023-12-03 11:44:16" "" "" "arraySNP;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000050042" "ROBO2" "0000050043" "ROBO2" "0000050044" "ROBO2" "0000050045" "PCDH11Y" "0000050045" "ROBO2" ## 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}}" "0000011868" "3" "50" "3" "76693546" "76693546" "subst" "0" "00037" "ROBO2_000001" "g.76693546C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.76644395C>T" "" "VUS" "" "0000011869" "0" "50" "3" "77421322" "77421322" "subst" "0" "00037" "ROBO2_000002" "g.77421322G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.77372171G>C" "" "VUS" "" "0000078997" "21" "90" "3" "77645881" "77645881" "subst" "1.21864E-5" "00006" "ROBO2_000003" "g.77645881T>C" "1/124 families" "{PMID:Lu 2007:17357069}, {DOI:Lu 2007:10.1086/512735}, {OMIM602431:0001}" "" "3477T>C (I945T)" "not in 552 control chromosomes" "Germline" "yes" "rs267607014" "0" "" "" "g.77596730T>C" "" "pathogenic" "" "0000078998" "21" "90" "3" "77671529" "77671529" "subst" "0" "00006" "ROBO2_000004" "g.77671529G>A" "1/124 families" "{PMID:Lu 2007:17357069}, {DOI:Lu 2007:10.1086/512735}, {OMIM602431:0002}" "" "4349G>A (A1236T)" "not in 552 control chromosomes" "Germline" "yes" "rs267607015" "0" "" "" "g.77622378G>A" "" "pathogenic" "" "0000078999" "0" "30" "3" "77614215" "77614215" "subst" "0.00377746" "00006" "ROBO2_000005" "g.77614215T>C" "3/552 control chromosomes" "{PMID:Lu 2007:17357069}, {DOI:Lu 2007:10.1086/512735}" "" "2436T>C (I598T)" "" "Unknown" "?" "" "0" "" "" "g.77565064T>C" "" "likely benign" "" "0000079013" "0" "90" "3" "0" "0" "" "0" "00006" "ROBO2_000006" "g.pter_77220642delins[NC_000024.9:pter_4892525]" "" "{PMID:Lu 2007:17357069}, {DOI:Lu 2007:10.1086/512735}" "" "ROBO2-PCDH11Y fusion" "breakpoint in BAC RP11-54A6; fusion transcripts expressed at somewhat reduced levels compared to non-translocated chromosome" "De novo" "" "" "0" "" "46,XY,t(Y;3)(p11;p12)dn" "" "" "pathogenic" "" "0000248533" "0" "10" "3" "75986686" "75986686" "subst" "0" "02325" "ROBO2_000009" "g.75986686A>G" "" "" "" "ROBO2(NM_001128929.3):c.42A>G (p.T14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75937535A>G" "" "benign" "" "0000297701" "0" "10" "3" "75986663" "75986663" "subst" "0" "02325" "ROBO2_000008" "g.75986663C>A" "" "" "" "ROBO2(NM_001128929.3):c.19C>A (p.R7S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75937512C>A" "" "benign" "" "0000297702" "0" "10" "3" "75986717" "75986717" "subst" "0" "02325" "ROBO2_000010" "g.75986717G>A" "" "" "" "ROBO2(NM_001128929.3):c.73G>A (p.V25M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75937566G>A" "" "benign" "" "0000297703" "0" "10" "3" "75986719" "75986719" "subst" "0" "02325" "ROBO2_000011" "g.75986719G>C" "" "" "" "ROBO2(NM_001128929.3):c.75G>C (p.V25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75937568G>C" "" "benign" "" "0000301474" "0" "10" "3" "75986622" "75986622" "subst" "0" "02326" "ROBO2_000007" "g.75986622C>G" "" "" "" "ROBO2(NM_001128929.3):c.-13-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75937471C>G" "" "benign" "" "0000301475" "0" "10" "3" "75986663" "75986663" "subst" "0" "02326" "ROBO2_000008" "g.75986663C>A" "" "" "" "ROBO2(NM_001128929.3):c.19C>A (p.R7S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75937512C>A" "" "benign" "" "0000301476" "0" "10" "3" "77530247" "77530247" "subst" "0.0182706" "02326" "ROBO2_000013" "g.77530247C>T" "" "" "" "ROBO2(NM_001378191.1):c.595-3C>T, ROBO2(NM_002942.5):c.547-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77481096C>T" "" "benign" "" "0000301477" "0" "10" "3" "77542390" "77542390" "del" "0" "02326" "ROBO2_000014" "g.77542390del" "" "" "" "ROBO2(NM_002942.5):c.668-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77493239del" "" "benign" "" "0000301478" "0" "10" "3" "77542389" "77542389" "subst" "2.44208E-5" "02326" "ROBO2_000015" "g.77542389T>C" "" "" "" "ROBO2(NM_002942.5):c.668-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77493238T>C" "" "benign" "" "0000301479" "0" "10" "3" "75986717" "75986717" "subst" "0" "02326" "ROBO2_000010" "g.75986717G>A" "" "" "" "ROBO2(NM_001128929.3):c.73G>A (p.V25M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75937566G>A" "" "benign" "" "0000301480" "0" "10" "3" "75986741" "75986741" "subst" "0" "02326" "ROBO2_000012" "g.75986741G>T" "" "" "" "ROBO2(NM_001128929.3):c.97G>T (p.G33*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75937590G>T" "" "benign" "" "0000307191" "0" "50" "3" "77571941" "77571941" "subst" "0.000196013" "01943" "ROBO2_000016" "g.77571941C>T" "" "" "" "ROBO2(NM_001128929.3):c.870C>T (p.D290=), ROBO2(NM_002942.5):c.822C>T (p.D274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77522790C>T" "" "VUS" "" "0000349828" "0" "50" "3" "77612423" "77612423" "subst" "0" "02327" "ROBO2_000017" "g.77612423G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77563272G>A" "" "VUS" "" "0000520683" "0" "30" "3" "77526562" "77526562" "subst" "2.03449E-5" "01943" "ROBO2_000018" "g.77526562C>T" "" "" "" "ROBO2(NM_001290040.1):c.389-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77477411C>T" "" "likely benign" "" "0000608875" "0" "30" "3" "77617558" "77617558" "subst" "0.000615006" "01943" "ROBO2_000020" "g.77617558T>C" "" "" "" "ROBO2(NM_001290040.1):c.1956T>C (p.T652=), ROBO2(NM_002942.5):c.1944T>C (p.T648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77568407T>C" "" "likely benign" "" "0000608876" "0" "50" "3" "77657066" "77657066" "subst" "0" "02325" "ROBO2_000021" "g.77657066C>T" "" "" "" "ROBO2(NM_001290040.2):c.3266C>T (p.T1089M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77607915C>T" "" "VUS" "" "0000651330" "1" "50" "3" "77629200" "77629200" "subst" "0.00923392" "03575" "ROBO2_000022" "g.77629200C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs188582283}" "Germline" "" "rs188582283" "0" "" "" "g.77580049C>T" "" "VUS" "" "0000677089" "0" "30" "3" "77617558" "77617558" "subst" "0.000615006" "02326" "ROBO2_000020" "g.77617558T>C" "" "" "" "ROBO2(NM_001290040.1):c.1956T>C (p.T652=), ROBO2(NM_002942.5):c.1944T>C (p.T648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677090" "0" "50" "3" "77681786" "77681786" "subst" "0" "01943" "ROBO2_000023" "g.77681786G>A" "" "" "" "ROBO2(NM_001290040.1):c.3934G>A (p.G1312R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677091" "0" "30" "3" "77693976" "77693976" "subst" "0.000597061" "01943" "ROBO2_000024" "g.77693976C>T" "" "" "" "ROBO2(NM_001290040.1):c.4251C>T (p.G1417=), ROBO2(NM_002942.5):c.4056C>T (p.G1352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677092" "0" "30" "3" "77693976" "77693976" "subst" "0.000597061" "02326" "ROBO2_000024" "g.77693976C>T" "" "" "" "ROBO2(NM_001290040.1):c.4251C>T (p.G1417=), ROBO2(NM_002942.5):c.4056C>T (p.G1352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689150" "0" "70" "3" "77526582" "77526582" "subst" "4.06673E-6" "02327" "ROBO2_000025" "g.77526582C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000689151" "0" "10" "3" "77595544" "77595544" "subst" "0.00440036" "02326" "ROBO2_000026" "g.77595544A>G" "" "" "" "ROBO2(NM_001290040.2):c.1002A>G (p.T334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719616" "0" "30" "3" "77530342" "77530342" "subst" "0.000259798" "02326" "ROBO2_000027" "g.77530342C>G" "" "" "" "ROBO2(NM_001290040.2):c.639C>G (p.D213E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719617" "0" "30" "3" "77623752" "77623752" "subst" "0.000770083" "02326" "ROBO2_000028" "g.77623752C>T" "" "" "" "ROBO2(NM_001290040.2):c.2086C>T (p.P696S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801380" "0" "30" "3" "77611844" "77611844" "subst" "4.07123E-6" "01943" "ROBO2_000029" "g.77611844A>G" "" "" "" "ROBO2(NM_001290040.1):c.1492A>G (p.S498G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801381" "0" "30" "3" "77612342" "77612342" "subst" "0.00144716" "02326" "ROBO2_000030" "g.77612342A>T" "" "" "" "ROBO2(NM_002942.5):c.1544A>T (p.N515I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801382" "0" "30" "3" "77614161" "77614161" "subst" "0.000561743" "02326" "ROBO2_000031" "g.77614161A>G" "" "" "" "ROBO2(NM_002942.5):c.1739A>G (p.Y580C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801383" "0" "50" "3" "77629201" "77629201" "subst" "6.10923E-5" "01943" "ROBO2_000032" "g.77629201G>A" "" "" "" "ROBO2(NM_001290040.1):c.2444G>A (p.R815Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801384" "0" "30" "3" "77657059" "77657059" "subst" "6.0935E-5" "02326" "ROBO2_000033" "g.77657059C>T" "" "" "" "ROBO2(NM_002942.5):c.3247C>T (p.P1083S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801385" "0" "30" "3" "77671469" "77671469" "subst" "0" "01943" "ROBO2_000034" "g.77671469G>A" "" "" "" "ROBO2(NM_001290040.1):c.3658G>A (p.V1220I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801386" "0" "50" "3" "77681666" "77681666" "subst" "0" "01943" "ROBO2_000035" "g.77681666C>T" "" "" "" "ROBO2(NM_001290040.1):c.3814C>T (p.R1272C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850413" "0" "30" "3" "77572049" "77572049" "subst" "0.000130586" "02326" "ROBO2_000036" "g.77572049C>T" "" "" "" "ROBO2(NM_002942.5):c.930C>T (p.V310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850414" "0" "30" "3" "77666778" "77666778" "subst" "0.000410372" "02326" "ROBO2_000039" "g.77666778C>T" "" "" "" "ROBO2(NM_002942.5):c.3408C>T (p.G1136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859133" "0" "30" "3" "77607231" "77607231" "subst" "5.69634E-5" "02326" "ROBO2_000037" "g.77607231T>C" "" "" "" "ROBO2(NM_002942.5):c.1368T>C (p.F456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859134" "0" "30" "3" "77629163" "77629163" "subst" "0.000602611" "02326" "ROBO2_000038" "g.77629163C>T" "" "" "" "ROBO2(NM_002942.5):c.2394C>T (p.S798=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885987" "0" "30" "3" "77599959" "77599959" "subst" "0.00175459" "02326" "ROBO2_000040" "g.77599959G>A" "" "" "" "ROBO2(NM_002942.5):c.1060-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885988" "0" "30" "3" "77614236" "77614236" "subst" "7.32547E-5" "02326" "ROBO2_000041" "g.77614236A>G" "" "" "" "ROBO2(NM_002942.5):c.1814A>G (p.D605G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911996" "0" "30" "3" "77607147" "77607147" "subst" "0.000464116" "02326" "ROBO2_000042" "g.77607147G>T" "" "" "" "ROBO2(NM_002942.5):c.1284G>T (p.T428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911997" "0" "30" "3" "77614279" "77614279" "subst" "0.00149043" "02326" "ROBO2_000019" "g.77614279C>G" "" "" "" "ROBO2(NM_002942.5):c.1849+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911998" "0" "30" "3" "77645758" "77645758" "subst" "1.62513E-5" "02326" "ROBO2_000043" "g.77645758G>C" "" "" "" "ROBO2(NM_002942.5):c.2727-16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911999" "0" "90" "3" "77671529" "77671529" "subst" "0" "02326" "ROBO2_000004" "g.77671529G>A" "" "" "" "ROBO2(NM_002942.5):c.3706G>A (p.A1236T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923992" "0" "30" "3" "77656980" "77656980" "subst" "2.43863E-5" "02326" "ROBO2_000044" "g.77656980A>G" "" "" "" "ROBO2(NM_002942.5):c.3168A>G (p.K1056=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928826" "0" "30" "3" "77666724" "77666724" "subst" "0.000873338" "02326" "ROBO2_000045" "g.77666724G>A" "" "" "" "ROBO2(NM_002942.5):c.3354G>A (p.L1118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948216" "0" "50" "3" "77617517" "77617517" "subst" "0" "02326" "ROBO2_000046" "g.77617517G>A" "" "" "" "ROBO2(NM_002942.5):c.1903G>A (p.G635R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948217" "0" "30" "3" "77693958" "77693958" "subst" "0.000194975" "02326" "ROBO2_000047" "g.77693958C>T" "" "" "" "ROBO2(NM_002942.5):c.4038C>T (p.T1346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952254" "0" "50" "3" "77657066" "77657066" "subst" "0" "00006" "ROBO2_000021" "g.77657066C>T" "" "{PMID:Imafidon 2021:34136434}" "" "c.3266C>T (Thr1089Met)" "" "De novo" "" "" "0" "" "" "g.77607915C>T" "" "VUS" "" "0000952255" "0" "50" "18" "52921759" "52921759" "subst" "0" "00006" "TCF4_000168" "g.52921759C>G" "" "{PMID:Imafidon 2021:34136434}" "" "" "" "De novo" "" "" "0" "" "" "g.55254528C>G" "" "VUS" "" "0000962912" "0" "30" "3" "77542390" "77542390" "dup" "0" "02326" "ROBO2_000048" "g.77542390dup" "" "" "" "ROBO2(NM_002942.5):c.668-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962913" "0" "30" "3" "77571941" "77571941" "subst" "0.000196013" "02326" "ROBO2_000016" "g.77571941C>T" "" "" "" "ROBO2(NM_001128929.3):c.870C>T (p.D290=), ROBO2(NM_002942.5):c.822C>T (p.D274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993909" "0" "50" "3" "77657048" "77657048" "subst" "4.06266E-6" "01804" "ROBO2_000049" "g.77657048T>A" "" "" "" "ROBO2(NM_002942.4):c.3236T>A (p.(Val1079Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034181" "0" "50" "3" "77089989" "77089989" "subst" "4.06144E-6" "01804" "ROBO2_000050" "g.77089989G>A" "" "" "" "ROBO2(NM_001290039.2):c.53G>A (p.(Arg18Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034182" "0" "10" "3" "77530247" "77530247" "subst" "0.0182706" "01804" "ROBO2_000013" "g.77530247C>T" "" "" "" "ROBO2(NM_001378191.1):c.595-3C>T, ROBO2(NM_002942.5):c.547-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001034183" "0" "30" "3" "77671586" "77671586" "subst" "2.86263E-5" "01804" "ROBO2_000051" "g.77671586A>G" "" "" "" "ROBO2(NM_001378191.1):c.3946+3A>G" "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 ROBO2 ## Count = 66 "{{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}}" "0000011868" "00000908" "50" "110" "-453619" "110" "-453619" "c.110-453619C>T" "r.(=)" "p.(=)" "" "0000011869" "00000908" "50" "437" "-105243" "437" "-105243" "c.437-105243G>C" "r.(=)" "p.(=)" "" "0000078997" "00000908" "90" "2882" "0" "2882" "0" "c.2882T>C" "r.(?)" "p.(Ile961Thr)" "20" "0000078998" "00000908" "90" "3754" "0" "3754" "0" "c.3754G>A" "r.(?)" "p.(Ala1252Thr)" "24" "0000078999" "00000908" "30" "1841" "0" "1841" "0" "c.1841T>C" "r.(?)" "p.(Ile614Thr)" "13" "0000079013" "00000908" "90" "0" "" "0" "" "c.436+73151_436+73152::?" "r.-280_436::NM_032971.2:r.[33_*1237,-271_*1237]" "p.?" "3i" "0000248533" "00000908" "10" "42" "0" "42" "0" "c.42A>G" "r.(?)" "p.(Thr14=)" "" "0000297701" "00000908" "10" "19" "0" "19" "0" "c.19C>A" "r.(?)" "p.(Arg7Ser)" "" "0000297702" "00000908" "10" "73" "0" "73" "0" "c.73G>A" "r.(?)" "p.(Val25Met)" "" "0000297703" "00000908" "10" "75" "0" "75" "0" "c.75G>C" "r.(?)" "p.(Val25=)" "" "0000301474" "00000908" "10" "-13" "-10" "-13" "-10" "c.-13-10C>G" "r.(=)" "p.(=)" "" "0000301475" "00000908" "10" "19" "0" "19" "0" "c.19C>A" "r.(?)" "p.(Arg7Ser)" "" "0000301476" "00000908" "10" "595" "-3" "595" "-3" "c.595-3C>T" "r.spl?" "p.?" "" "0000301477" "00000908" "10" "716" "-5" "716" "-5" "c.716-5del" "r.spl?" "p.?" "" "0000301478" "00000908" "10" "716" "-6" "716" "-6" "c.716-6T>C" "r.(=)" "p.(=)" "" "0000301479" "00000908" "10" "73" "0" "73" "0" "c.73G>A" "r.(?)" "p.(Val25Met)" "" "0000301480" "00000908" "10" "97" "0" "97" "0" "c.97G>T" "r.(?)" "p.(Gly33Ter)" "" "0000307191" "00000908" "50" "870" "0" "870" "0" "c.870C>T" "r.(?)" "p.(Asp290=)" "" "0000349828" "00000908" "50" "1673" "0" "1673" "0" "c.1673G>A" "r.(?)" "p.(Trp558Ter)" "" "0000520683" "00000908" "30" "437" "-3" "437" "-3" "c.437-3C>T" "r.spl?" "p.?" "" "0000608875" "00000908" "30" "1992" "0" "1992" "0" "c.1992T>C" "r.(?)" "p.(Thr664=)" "" "0000608876" "00000908" "50" "3302" "0" "3302" "0" "c.3302C>T" "r.(?)" "p.(Thr1101Met)" "" "0000651330" "00000908" "50" "2479" "0" "2479" "0" "c.2479C>T" "r.(?)" "p.(Arg827Trp)" "" "0000677089" "00000908" "30" "1992" "0" "1992" "0" "c.1992T>C" "r.(?)" "p.(Thr664=)" "" "0000677090" "00000908" "50" "3809" "-2235" "3809" "-2235" "c.3809-2235G>A" "r.(=)" "p.(=)" "" "0000677091" "00000908" "30" "4104" "0" "4104" "0" "c.4104C>T" "r.(?)" "p.(Gly1368=)" "" "0000677092" "00000908" "30" "4104" "0" "4104" "0" "c.4104C>T" "r.(?)" "p.(Gly1368=)" "" "0000689150" "00000908" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" "" "0000689151" "00000908" "10" "1038" "0" "1038" "0" "c.1038A>G" "r.(?)" "p.(Thr346=)" "" "0000719616" "00000908" "30" "687" "0" "687" "0" "c.687C>G" "r.(?)" "p.(Asp229Glu)" "" "0000719617" "00000908" "30" "2122" "0" "2122" "0" "c.2122C>T" "r.(?)" "p.(Pro708Ser)" "" "0000801380" "00000908" "30" "1528" "0" "1528" "0" "c.1528A>G" "r.(?)" "p.(Ser510Gly)" "" "0000801381" "00000908" "30" "1592" "0" "1592" "0" "c.1592A>T" "r.(?)" "p.(Asn531Ile)" "" "0000801382" "00000908" "30" "1787" "0" "1787" "0" "c.1787A>G" "r.(?)" "p.(Tyr596Cys)" "" "0000801383" "00000908" "50" "2480" "0" "2480" "0" "c.2480G>A" "r.(?)" "p.(Arg827Gln)" "" "0000801384" "00000908" "30" "3295" "0" "3295" "0" "c.3295C>T" "r.(?)" "p.(Pro1099Ser)" "" "0000801385" "00000908" "30" "3694" "0" "3694" "0" "c.3694G>A" "r.(?)" "p.(Val1232Ile)" "" "0000801386" "00000908" "50" "3809" "-2355" "3809" "-2355" "c.3809-2355C>T" "r.(=)" "p.(=)" "" "0000850413" "00000908" "30" "978" "0" "978" "0" "c.978C>T" "r.(?)" "p.(Val326=)" "" "0000850414" "00000908" "30" "3456" "0" "3456" "0" "c.3456C>T" "r.(?)" "p.(Gly1152=)" "" "0000859133" "00000908" "30" "1416" "0" "1416" "0" "c.1416T>C" "r.(?)" "p.(Phe472=)" "" "0000859134" "00000908" "30" "2442" "0" "2442" "0" "c.2442C>T" "r.(?)" "p.(Ser814=)" "" "0000885987" "00000908" "30" "1108" "-10" "1108" "-10" "c.1108-10G>A" "r.(=)" "p.(=)" "" "0000885988" "00000908" "30" "1862" "0" "1862" "0" "c.1862A>G" "r.(?)" "p.(Asp621Gly)" "" "0000911996" "00000908" "30" "1332" "0" "1332" "0" "c.1332G>T" "r.(?)" "p.(Thr444=)" "" "0000911997" "00000908" "30" "1897" "8" "1897" "8" "c.1897+8C>G" "r.(=)" "p.(=)" "" "0000911998" "00000908" "30" "2775" "-16" "2775" "-16" "c.2775-16G>C" "r.(=)" "p.(=)" "" "0000911999" "00000908" "90" "3754" "0" "3754" "0" "c.3754G>A" "r.(?)" "p.(Ala1252Thr)" "" "0000923992" "00000908" "30" "3216" "0" "3216" "0" "c.3216A>G" "r.(?)" "p.(Lys1072=)" "" "0000928826" "00000908" "30" "3402" "0" "3402" "0" "c.3402G>A" "r.(?)" "p.(=)" "" "0000948216" "00025887" "50" "1915" "0" "1915" "0" "c.1915G>A" "r.(?)" "p.(Gly639Arg)" "" "0000948216" "00000908" "50" "1951" "0" "1951" "0" "c.1951G>A" "r.(?)" "p.(Gly651Arg)" "" "0000948217" "00025887" "30" "4323" "0" "4323" "0" "c.4323C>T" "r.(?)" "p.(Thr1441=)" "" "0000948217" "00000908" "30" "4086" "0" "4086" "0" "c.4086C>T" "r.(?)" "p.(=)" "" "0000952254" "00000908" "50" "3302" "0" "3302" "0" "c.3302C>T" "r.(?)" "p.(Thr1101Met)" "" "0000952255" "00000908" "50" "1319" "0" "1319" "0" "c.1319G>C" "r.(?)" "p.(Gly440Ala)" "" "0000962912" "00025887" "30" "668" "-5" "668" "-5" "c.668-5dup" "r.spl?" "p.?" "" "0000962912" "00000908" "30" "716" "-5" "716" "-5" "c.716-5dup" "r.spl?" "p.?" "" "0000962913" "00000908" "30" "870" "0" "870" "0" "c.870C>T" "r.(?)" "p.(Asp290=)" "" "0000993909" "00025887" "50" "3248" "0" "3248" "0" "c.3248T>A" "r.(?)" "p.(Val1083Asp)" "" "0000993909" "00000908" "50" "3284" "0" "3284" "0" "c.3284T>A" "r.(?)" "p.(Val1095Asp)" "" "0001034181" "00025887" "50" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Arg18Gln)" "" "0001034181" "00000908" "50" "110" "-57176" "110" "-57176" "c.110-57176G>A" "r.(=)" "p.(=)" "" "0001034182" "00000908" "10" "595" "-3" "595" "-3" "c.595-3C>T" "r.spl?" "p.?" "" "0001034183" "00025887" "30" "3772" "3" "3772" "3" "c.3772+3A>G" "r.spl?" "p.?" "" "0001034183" "00000908" "30" "3808" "3" "3808" "3" "c.3808+3A>G" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000000210" "0000011868" "0000000210" "0000011869" "0000050042" "0000078997" "0000050043" "0000078998" "0000050044" "0000078999" "0000050045" "0000079013" "0000294641" "0000651330" "0000445311" "0000952254" "0000445311" "0000952255"