### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UGT1A4) # 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}}" "UGT1A4" "UDP glucuronosyltransferase 1 family, polypeptide A4" "2" "q37" "unknown" "NC_000002.11" "UD_132118967640" "" "https://www.LOVD.nl/UGT1A4" "" "1" "12536" "54657" "606429" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-01-24 08:59:00" "00000" "2025-07-08 13:22:38" ## 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}}" "00022340" "UGT1A4" "UDP glucuronosyltransferase 1 family, polypeptide A4" "001" "NM_007120.2" "" "NP_009051.1" "" "" "" "-29" "2345" "1605" "234627438" "234681945" "" "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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00292644" "" "" "" "191" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292645" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292646" "" "" "" "40" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292647" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304801" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304802" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308698" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00430820" "" "" "" "12" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" "Korea" "" "0" "" "" "" "controls" "00430821" "" "" "" "12" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" "Korea" "" "0" "" "" "" "controls" "00430822" "" "" "" "12" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" "Korea" "" "0" "" "" "" "controls" "00430823" "" "" "" "12" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" "Korea" "" "0" "" "" "" "controls" "00430824" "" "" "" "1" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" "Korea" "" "0" "" "" "" "controls" "00430825" "" "" "" "10" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" "Korea" "" "0" "" "" "" "controls" "00430826" "" "" "" "1" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" "Korea" "" "0" "" "" "" "controls" "00430827" "" "" "" "14" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" "Korea" "" "0" "" "" "" "KOR35" "00430828" "" "" "" "13" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" "Korea" "" "0" "" "" "" "controls" "00430877" "" "" "" "1" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" "Korea" "" "0" "" "" "" "controls" "00430878" "" "" "" "1" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" "Korea" "" "0" "" "" "" "controls" "00430879" "" "" "" "1" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" "Korea" "" "0" "" "" "" "controls" "00430880" "" "" "" "1" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" "Korea" "" "0" "" "" "" "controls" "00430881" "" "" "" "1" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" "Korea" "" "0" "" "" "" "controls" "00430882" "" "" "" "1" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" "Korea" "" "0" "" "" "" "controls" "00430883" "" "" "" "1" "" "00006" "{PMID:Yea 2008:18223459}" "analysis 50 controls" "" "" "Korea" "" "0" "" "" "" "controls" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00292644" "00198" "00292645" "00198" "00292646" "00198" "00292647" "00198" "00304801" "00198" "00304802" "00198" "00308698" "00000" "00430820" "00000" "00430821" "00000" "00430822" "00000" "00430823" "00000" "00430824" "00000" "00430825" "00000" "00430826" "00000" "00430827" "00000" "00430828" "00000" "00430877" "00000" "00430878" "00000" "00430879" "00000" "00430880" "00000" "00430881" "00000" "00430882" "00000" "00430883" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000293812" "00292644" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293813" "00292645" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293814" "00292646" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293815" "00292647" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305930" "00304801" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305931" "00304802" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309843" "00308698" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000432231" "00430820" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432232" "00430821" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432233" "00430822" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432234" "00430823" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432235" "00430824" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432236" "00430825" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432237" "00430826" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432238" "00430827" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432239" "00430828" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432288" "00430877" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432289" "00430878" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432290" "00430879" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432291" "00430880" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432292" "00430881" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432293" "00430882" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" "0000432294" "00430883" "1" "00006" "00006" "2023-01-24 15:32:46" "" "" "SEQ" "DNA" "" "analysis UGT1A1-UGT1A10 genes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000309843" "UGT1A1" ## 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 = 108 "{{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}}" "0000253434" "0" "10" "2" "234669473" "234669473" "subst" "0.00166637" "01943" "UGT1A1_000020" "g.234669473A>G" "" "" "" "UGT1A1(NM_000463.2):c.540A>G (p.E180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760827A>G" "" "benign" "" "0000255493" "0" "90" "2" "234669018" "234669018" "subst" "0" "01943" "UGT1A1_000016" "g.234669018A>T" "" "" "" "UGT1A1(NM_000463.2):c.85A>T (p.K29*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760372A>T" "" "pathogenic" "" "0000255498" "0" "90" "2" "234676986" "234676986" "subst" "0" "01943" "UGT1A1_000042" "g.234676986A>C" "" "" "" "UGT1A1(NM_000463.2):c.1205A>C (p.K402T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768340A>C" "" "pathogenic" "" "0000255499" "0" "90" "2" "234677001" "234677001" "del" "0" "01943" "UGT1A1_000044" "g.234677001del" "" "" "" "UGT1A1(NM_000463.2):c.1220del (p.(Lys407Argfs*5)), UGT1A1(NM_000463.2):c.1220delA (p.K407Rfs*5), UGT1A1(NM_000463.3):c.1220delA (p.K407Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768355del" "" "pathogenic" "" "0000255567" "0" "90" "2" "234669768" "234669768" "subst" "2.8697E-5" "01943" "UGT1A1_000024" "g.234669768A>T" "" "" "" "UGT1A1(NM_000463.2):c.835A>T (p.N279Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233761122A>T" "" "pathogenic" "" "0000255585" "0" "90" "2" "234676568" "234676568" "subst" "4.10179E-6" "01943" "UGT1A1_000035" "g.234676568A>G" "" "" "" "UGT1A1(NM_000463.2):c.1070A>G (p.Q357R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233767922A>G" "" "pathogenic" "" "0000312939" "0" "30" "2" "234676903" "234676903" "subst" "0.000992649" "02325" "UGT1A1_000037" "g.234676903T>C" "" "" "" "UGT1A1(NM_000463.3):c.1122T>C (p.G374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768257T>C" "" "likely benign" "" "0000312940" "0" "30" "2" "234681098" "234681098" "subst" "7.3364E-5" "02325" "UGT1A1_000050" "g.234681098G>A" "" "" "" "UGT1A1(NM_000463.3):c.1495G>A (p.V499M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233772452G>A" "" "likely benign" "" "0000319252" "0" "90" "2" "234676503" "234676503" "subst" "0" "01943" "UGT1A1_000032" "g.234676503G>A" "" "" "" "UGT1A1(NM_000463.2):c.1005G>A (p.W335*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233767857G>A" "" "pathogenic" "" "0000319253" "0" "90" "2" "234676504" "234676504" "subst" "4.10182E-6" "01943" "UGT1A1_000034" "g.234676504C>T" "" "" "" "UGT1A1(NM_000463.2):c.1006C>T (p.R336W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233767858C>T" "" "pathogenic" "" "0000319255" "0" "70" "2" "234676872" "234676872" "subst" "0.00122649" "01943" "UGT1A1_000036" "g.234676872C>T" "" "" "" "UGT1A1(NM_000463.2):c.1091C>T (p.P364L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768226C>T" "" "likely pathogenic" "" "0000319256" "0" "70" "2" "234676926" "234676931" "del" "0" "01943" "UGT1A1_000038" "g.234676926_234676931del" "" "" "" "UGT1A1(NM_000463.2):c.1145_1150delTATGCA (p.I382_C383del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768280_233768285del" "" "likely pathogenic" "" "0000319257" "0" "90" "2" "234676941" "234676941" "subst" "0" "01943" "UGT1A1_000041" "g.234676941C>A" "" "" "" "UGT1A1(NM_000463.2):c.1160C>A (p.P387H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768295C>A" "" "pathogenic" "" "0000319258" "0" "50" "2" "234676988" "234676988" "subst" "3.69173E-5" "01943" "UGT1A1_000043" "g.234676988C>T" "" "" "" "UGT1A1(NM_000463.2):c.1207C>T (p.R403C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768342C>T" "" "VUS" "" "0000319259" "0" "90" "2" "234677086" "234677086" "subst" "0" "01943" "UGT1A1_000045" "g.234677086G>T" "" "" "" "UGT1A1(NM_000463.2):c.1304+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768440G>T" "" "pathogenic" "" "0000319260" "0" "50" "2" "234680951" "234680951" "subst" "4.49894E-5" "01943" "UGT1A1_000046" "g.234680951C>T" "" "" "" "UGT1A1(NM_000463.2):c.1348C>T (p.R450C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233772305C>T" "" "VUS" "" "0000319261" "0" "50" "2" "234681032" "234681032" "subst" "2.03321E-5" "01943" "UGT1A1_000047" "g.234681032G>A" "" "" "" "UGT1A1(NM_000463.2):c.1429G>A (p.A477T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233772386G>A" "" "VUS" "" "0000319262" "0" "90" "2" "234681059" "234681059" "subst" "0.000219555" "01943" "UGT1A1_000048" "g.234681059T>G" "" "" "" "UGT1A1(NM_000463.2):c.1456T>G (p.Y486D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233772413T>G" "" "pathogenic" "" "0000319263" "0" "90" "2" "234669078" "234669078" "subst" "0" "01943" "UGT1A1_000017" "g.234669078C>T" "" "" "" "UGT1A1(NM_000463.2):c.145C>T (p.Q49*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760432C>T" "" "pathogenic" "" "0000319264" "0" "90" "2" "234681092" "234681092" "del" "0" "01943" "UGT1A1_000049" "g.234681092del" "" "" "" "UGT1A1(NM_000463.2):c.1489delG (p.A497Pfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233772446del" "" "pathogenic" "" "0000319265" "0" "70" "2" "234681170" "234681170" "subst" "1.63952E-5" "01943" "UGT1A1_000051" "g.234681170C>T" "" "" "" "UGT1A1(NM_000463.2):c.1567C>T (p.R523*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233772524C>T" "" "likely pathogenic" "" "0000319266" "0" "10" "2" "234669122" "234669122" "subst" "0.000215281" "01943" "UGT1A1_000018" "g.234669122C>T" "" "" "" "UGT1A1(NM_000463.2):c.189C>T (p.D63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760476C>T" "" "benign" "" "0000319267" "0" "90" "2" "234669155" "234669155" "subst" "4.06141E-6" "01943" "UGT1A1_000019" "g.234669155C>A" "" "" "" "UGT1A1(NM_000463.2):c.222C>A (p.Y74*), UGT1A1(NM_000463.3):c.222C>A (p.Y74*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760509C>A" "" "pathogenic" "" "0000319268" "0" "90" "2" "234668977" "234668977" "subst" "0" "01943" "UGT1A1_000003" "g.234668977T>G" "" "" "" "UGT1A1(NM_000463.2):c.44T>G (p.L15R), UGT1A1(NM_000463.3):c.44T>G (p.L15R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760331T>G" "" "pathogenic" "" "0000319269" "0" "90" "2" "234669403" "234669403" "del" "0" "01943" "UGT1A1_000052" "g.234669403del" "" "" "" "UGT1A1(NM_000463.2):c.470delG (p.S157Tfs*48)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760757del" "" "pathogenic" "" "0000319270" "0" "50" "2" "234669505" "234669505" "subst" "0" "01943" "UGT1A1_000053" "g.234669505C>T" "" "" "" "UGT1A1(NM_000463.2):c.572C>T (p.S191F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760859C>T" "" "VUS" "" "0000319271" "0" "90" "2" "234669509" "234669509" "subst" "0" "01943" "UGT1A1_000021" "g.234669509C>A" "" "" "" "UGT1A1(NM_000463.2):c.576C>A (p.Y192*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760863C>A" "" "pathogenic" "" "0000319272" "0" "90" "2" "234669558" "234669558" "subst" "3.24847E-5" "01943" "UGT1A1_000012" "g.234669558C>T" "" "" "" "UGT1A1(NM_000463.2):c.625C>T (p.R209W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760912C>T" "" "pathogenic" "" "0000319273" "0" "90" "2" "234669607" "234669607" "subst" "0.000601069" "01943" "UGT1A1_000010" "g.234669607T>G" "" "" "" "UGT1A1(NM_000463.2):c.674T>G (p.V225G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760961T>G" "" "pathogenic" "" "0000319274" "0" "90" "2" "234669741" "234669749" "del" "0" "01943" "UGT1A1_000022" "g.234669741_234669749del" "" "" "" "UGT1A1(NM_000463.2):c.808_816delCCCAATATG (p.P270_M272del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233761095_233761103del" "" "pathogenic" "" "0000319275" "0" "70" "2" "234669755" "234669755" "del" "0" "01943" "UGT1A1_000023" "g.234669755del" "" "" "" "UGT1A1(NM_000463.2):c.822delT (p.F274Lfs*92)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233761109del" "" "likely pathogenic" "" "0000319276" "0" "90" "2" "234669772" "234669772" "del" "0" "01943" "UGT1A1_000025" "g.234669772del" "" "" "" "UGT1A1(NM_000463.2):c.839delG (p.C280Sfs*86)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233761126del" "" "pathogenic" "" "0000319277" "0" "90" "2" "234675692" "234675706" "delins" "0" "01943" "UGT1A1_000026" "g.234675692_234675706delinsA" "" "" "" "UGT1A1(NM_000463.2):c.877_891delTACATTAATGCTTCTinsA (p.Y293Rfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233767046_233767060delinsA" "" "pathogenic" "" "0000319278" "0" "90" "2" "234675738" "234675738" "subst" "1.23084E-5" "01943" "UGT1A1_000027" "g.234675738G>A" "" "" "" "UGT1A1(NM_000463.2):c.923G>A (p.G308E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233767092G>A" "" "pathogenic" "" "0000319279" "0" "10" "2" "234675826" "234675826" "subst" "0.00307073" "01943" "UGT1A1_000029" "g.234675826T>C" "" "" "" "UGT1A1(NM_000463.2):c.996+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233767180T>C" "" "benign" "" "0000319280" "0" "10" "2" "234675829" "234675829" "subst" "0.00923052" "01943" "UGT1A1_000030" "g.234675829C>T" "" "" "" "UGT1A1(NM_000463.2):c.996+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233767183C>T" "" "benign" "" "0000319282" "0" "50" "2" "234676929" "234676929" "subst" "0" "01943" "UGT1A1_000039" "g.234676929G>A" "" "" "" "UGT1A6(NM_001072.3):c.1145G>A (p.C382Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768283G>A" "" "VUS" "" "0000319283" "0" "30" "2" "234676930" "234676930" "subst" "0" "01943" "UGT1A1_000040" "g.234676930C>T" "" "" "" "UGT1A6(NM_001072.3):c.1146C>T (p.C382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768284C>T" "" "likely benign" "" "0000319284" "0" "50" "2" "234601810" "234601810" "subst" "0" "01943" "UGT1A6_000001" "g.234601810C>G" "" "" "" "UGT1A6(NM_001072.3):c.160C>G (p.H54D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233693164C>G" "" "VUS" "" "0000328188" "0" "50" "2" "234545928" "234545928" "subst" "0.000349758" "01804" "UGT1A8_000001" "g.234545928C>T" "" "" "" "UGT1A10(NM_019075.2):c.760C>T (p.(Arg254Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233637282C>T" "" "VUS" "" "0000328189" "0" "50" "2" "234545998" "234545998" "subst" "0.00190672" "01804" "UGT1A8_000002" "g.234545998G>A" "" "" "" "UGT1A10(NM_019075.2):c.830G>A (p.(Cys277Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233637352G>A" "" "VUS" "" "0000328190" "0" "50" "2" "234675779" "234675779" "subst" "0.00189944" "01804" "UGT1A1_000028" "g.234675779A>G" "" "" "" "UGT1A1(NM_000463.2):c.964A>G (p.(Ile322Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233767133A>G" "" "VUS" "" "0000346239" "0" "50" "2" "234669144" "234669144" "subst" "0.0221034" "02327" "UGT1A1_000001" "g.234669144G>A" "" "" "" "UGT1A1(NM_000463.2):c.211G>A (p.G71R), UGT1A1(NM_000463.3):c.211G>A (p.G71R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760498G>A" "" "VUS" "" "0000347558" "0" "90" "2" "234677001" "234677001" "del" "0" "02327" "UGT1A1_000044" "g.234677001del" "" "" "" "UGT1A1(NM_000463.2):c.1220del (p.(Lys407Argfs*5)), UGT1A1(NM_000463.2):c.1220delA (p.K407Rfs*5), UGT1A1(NM_000463.3):c.1220delA (p.K407Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233768355del" "" "pathogenic" "" "0000350405" "0" "70" "2" "234669607" "234669607" "subst" "0.000601069" "02327" "UGT1A1_000010" "g.234669607T>G" "" "" "" "UGT1A1(NM_000463.2):c.674T>G (p.V225G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.233760961T>G" "" "likely pathogenic" "" "0000515156" "0" "50" "2" "234669115" "234669115" "subst" "4.06207E-6" "02327" "UGT1A1_000054" "g.234669115C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233760469C>G" "" "VUS" "" "0000515157" "0" "90" "2" "234669155" "234669155" "subst" "4.06141E-6" "02327" "UGT1A1_000019" "g.234669155C>A" "" "" "" "UGT1A1(NM_000463.2):c.222C>A (p.Y74*), UGT1A1(NM_000463.3):c.222C>A (p.Y74*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233760509C>A" "" "pathogenic" "" "0000515158" "0" "30" "2" "234669218" "234669218" "subst" "0" "02327" "UGT1A1_000055" "g.234669218C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233760572C>T" "" "likely benign" "" "0000515159" "0" "50" "2" "234669255" "234669255" "subst" "4.87603E-5" "01804" "UGT1A1_000056" "g.234669255C>T" "" "" "" "UGT1A1(NM_000463.3):c.322C>T (p.(Arg108Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233760609C>T" "" "VUS" "" "0000515160" "0" "50" "2" "234669403" "234669403" "subst" "0" "02327" "UGT1A1_000057" "g.234669403G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233760757G>A" "" "VUS" "" "0000515161" "0" "30" "2" "234669410" "234669410" "subst" "0" "02327" "UGT1A1_000058" "g.234669410C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233760764C>A" "" "likely benign" "" "0000515162" "0" "90" "2" "234669773" "234669773" "subst" "0" "01943" "UGT1A1_000059" "g.234669773C>A" "" "" "" "UGT1A1(NM_000463.2):c.840C>A (p.C280*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233761127C>A" "" "pathogenic" "" "0000515163" "0" "10" "2" "234676395" "234676396" "ins" "0" "01943" "UGT1A1_000060" "g.234676395_234676396insGT" "" "" "" "UGT1A1(NM_000463.2):c.997-100_997-99insGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233767749_233767750insGT" "" "benign" "" "0000515164" "0" "90" "2" "234676505" "234676508" "dup" "0" "01943" "UGT1A1_000061" "g.234676505_234676508dup" "" "" "" "UGT1A1(NM_000463.2):c.1007_1010dupGGTA (p.Y337*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233767859_233767862dup" "" "pathogenic" "" "0000515165" "0" "90" "2" "234677001" "234677001" "del" "0" "01804" "UGT1A1_000044" "g.234677001del" "" "" "" "UGT1A1(NM_000463.2):c.1220del (p.(Lys407Argfs*5)), UGT1A1(NM_000463.2):c.1220delA (p.K407Rfs*5), UGT1A1(NM_000463.3):c.1220delA (p.K407Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233768355del" "" "pathogenic" "" "0000620990" "0" "30" "2" "234680946" "234680946" "subst" "0" "01943" "UGT1A1_000062" "g.234680946A>G" "" "" "" "UGT1A1(NM_000463.2):c.1343A>G (p.K448R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233772300A>G" "" "likely benign" "" "0000650501" "1" "50" "2" "234669144" "234669144" "subst" "0.0221034" "03575" "UGT1A1_000001" "g.234669144G>A" "191/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "drug response; 191 heterozygous; {DB:CLININrs4148323}" "Germline" "" "rs4148323" "0" "" "" "g.233760498G>A" "" "VUS" "" "0000650502" "1" "90" "2" "234676583" "234676583" "subst" "0" "03575" "UGT1A1_000063" "g.234676583G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587784535}" "Germline" "" "rs587784535" "0" "" "" "g.233767937G>T" "" "pathogenic" "" "0000650503" "1" "70" "2" "234676872" "234676872" "subst" "0.00122649" "03575" "UGT1A1_000036" "g.234676872C>T" "40/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "40 heterozygous; {DB:CLININrs34946978}" "Germline" "" "rs34946978" "0" "" "" "g.233768226C>T" "" "likely pathogenic" "" "0000650504" "1" "70" "2" "234681059" "234681059" "subst" "0.000219555" "03575" "UGT1A1_000048" "g.234681059T>G" "8/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs34993780.2}" "Germline" "" "rs34993780" "0" "" "" "g.233772413T>G" "" "likely pathogenic" "" "0000654591" "0" "30" "2" "234627668" "234627668" "subst" "0.00247718" "02326" "UGT1A1_000064" "g.234627668C>T" "" "" "" "UGT1A4(NM_007120.3):c.202C>T (p.H68Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.233719022C>T" "" "likely benign" "" "0000669618" "3" "50" "2" "234669144" "234669144" "subst" "0.0221034" "03575" "UGT1A1_000001" "g.234669144G>A" "19/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "drug response; 19 homozygous; {DB:CLININrs4148323}" "Germline" "" "rs4148323" "0" "" "" "g.233760498G>A" "" "VUS" "" "0000669619" "3" "70" "2" "234676872" "234676872" "subst" "0.00122649" "03575" "UGT1A1_000036" "g.234676872C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs34946978}" "Germline" "" "rs34946978" "0" "" "" "g.233768226C>T" "" "likely pathogenic" "" "0000684745" "0" "30" "2" "234669619" "234669619" "subst" "0.00143807" "00004" "UGT1A1_000014" "g.234669619C>A" "frequency 0.016" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.233760973C>A" "" "likely benign" "" "0000688703" "0" "90" "2" "234668977" "234668977" "subst" "0" "02325" "UGT1A1_000003" "g.234668977T>G" "" "" "" "UGT1A1(NM_000463.2):c.44T>G (p.L15R), UGT1A1(NM_000463.3):c.44T>G (p.L15R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688704" "0" "50" "2" "234680925" "234680925" "subst" "8.59789E-5" "02327" "UGT1A1_000071" "g.234680925T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718627" "0" "30" "2" "234669074" "234669074" "subst" "0.00251432" "01943" "UGT1A1_000075" "g.234669074C>T" "" "" "" "UGT1A1(NM_000463.2):c.141C>T (p.I47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718628" "0" "50" "2" "234669112" "234669112" "subst" "0" "02325" "UGT1A1_000076" "g.234669112T>C" "" "" "" "UGT1A1(NM_000463.3):c.179T>C (p.L60P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718629" "0" "90" "2" "234669144" "234669144" "subst" "0.0221034" "01943" "UGT1A1_000001" "g.234669144G>A" "" "" "" "UGT1A1(NM_000463.2):c.211G>A (p.G71R), UGT1A1(NM_000463.3):c.211G>A (p.G71R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800488" "0" "30" "2" "234638210" "234638210" "subst" "2.84282E-5" "01943" "UGT1A1_000077" "g.234638210T>C" "" "" "" "UGT1A3(NM_019093.2):c.438T>C (p.F146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800489" "0" "70" "2" "234681170" "234681170" "subst" "1.63952E-5" "02327" "UGT1A1_000051" "g.234681170C>T" "" "" "" "UGT1A1(NM_000463.2):c.1567C>T (p.R523*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000849798" "0" "90" "2" "234677001" "234677001" "del" "0" "02325" "UGT1A1_000044" "g.234677001del" "" "" "" "UGT1A1(NM_000463.2):c.1220del (p.(Lys407Argfs*5)), UGT1A1(NM_000463.2):c.1220delA (p.K407Rfs*5), UGT1A1(NM_000463.3):c.1220delA (p.K407Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858412" "0" "30" "2" "234638245" "234638245" "subst" "5.68958E-5" "01943" "UGT1A1_000078" "g.234638245C>G" "" "" "" "UGT1A3(NM_019093.2):c.473C>G (p.A158G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885023" "0" "70" "2" "234668893" "234668894" "dup" "0" "02325" "UGT1A4_000105" "g.234668893_234668894dup" "" "" "" "UGT1A1(NM_000463.3):c.-41_-40dupTA, UGT1A6(NM_001072.4):c.862-6788_862-6787dupAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000885024" "0" "70" "2" "234676988" "234676988" "subst" "3.69173E-5" "02327" "UGT1A1_000043" "g.234676988C>T" "" "" "" "UGT1A1(NM_000463.2):c.1207C>T (p.R403C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000917638" "1" "50" "2" "234627010" "234627010" "subst" "0" "00006" "UGT1A4_000106" "g.234627010C>T" "12/50 controls" "{PMID:Yea 2008:18223459}" "" "c.-457C>T" "combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233718364C>T" "" "VUS" "" "0000917639" "1" "50" "2" "234627048" "234627048" "subst" "0" "00006" "UGT1A4_000106" "g.234627048G>A" "12/50 controls" "{PMID:Yea 2008:18223459}" "" "c.-419G>A" "combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233718402G>A" "" "VUS" "" "0000917640" "1" "50" "2" "234627248" "234627248" "subst" "0" "00006" "UGT1A4_000106" "g.234627248C>T" "12/50 controls" "{PMID:Yea 2008:18223459}" "" "c.-219C>T" "combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233718602C>T" "" "VUS" "" "0000917641" "1" "50" "2" "234627304" "234627304" "subst" "0" "00006" "UGT1A4_000106" "g.234627304G>A" "12/50 controls" "{PMID:Yea 2008:18223459}" "" "c.-163G>A" "combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233718658G>A" "" "VUS" "" "0000917642" "1" "50" "2" "234627497" "234627497" "subst" "0.00408034" "00006" "UGT1A4_000107" "g.234627497C>T" "1/50 controls" "{PMID:Yea 2008:18223459}" "" "" "no homozygotes, combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233718851C>T" "" "VUS" "" "0000917643" "1" "50" "2" "234627608" "234627608" "subst" "0.11358" "00006" "UGT1A4_000108" "g.234627608T>G" "10/50 controls" "{PMID:Yea 2008:18223459}" "" "" "combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233718962T>G" "" "VUS" "" "0000917644" "1" "70" "2" "234627758" "234627758" "subst" "0.000142122" "00006" "UGT1A4_000109" "g.234627758C>T" "1/50 controls" "{PMID:Yea 2008:18223459}" "" "" "no homozygotes, combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233719112C>T" "" "VUS" "" "0000917645" "1" "50" "2" "234628270" "234628270" "subst" "0.090119" "00006" "UGT1A4_000110" "g.234628270G>A" "14/50 controls" "{PMID:Yea 2008:18223459}" "" "" "combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233719624G>A" "" "VUS" "" "0000917646" "1" "50" "2" "234628376" "234628376" "subst" "0.0908063" "00006" "UGT1A4_000111" "g.234628376C>T" "13/50 controls" "{PMID:Yea 2008:18223459}" "" "IVS1+43C>T" "combination of variants see Figs.3/4" "Germline" "" "rs2011219" "0" "" "" "g.233719730C>T" "" "VUS" "" "0000917695" "3" "50" "2" "234627010" "234627010" "subst" "0" "00006" "UGT1A4_000106" "g.234627010C>T" "1/50 controls" "{PMID:Yea 2008:18223459}" "" "c.-457C>T" "combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233718364C>T" "" "VUS" "" "0000917696" "3" "50" "2" "234627048" "234627048" "subst" "0" "00006" "UGT1A4_000106" "g.234627048G>A" "1/50 controls" "{PMID:Yea 2008:18223459}" "" "c.-419G>A" "combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233718402G>A" "" "VUS" "" "0000917697" "3" "50" "2" "234627248" "234627248" "subst" "0" "00006" "UGT1A4_000106" "g.234627248C>T" "1/50 controls" "{PMID:Yea 2008:18223459}" "" "c.-219C>T" "combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233718602C>T" "" "VUS" "" "0000917698" "3" "50" "2" "234627304" "234627304" "subst" "0" "00006" "UGT1A4_000106" "g.234627304G>A" "1/50 controls" "{PMID:Yea 2008:18223459}" "" "c.-163G>A" "combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233718658G>A" "" "VUS" "" "0000917699" "3" "50" "2" "234627608" "234627608" "subst" "0.11358" "00006" "UGT1A4_000108" "g.234627608T>G" "1/50 controls" "{PMID:Yea 2008:18223459}" "" "" "combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233718962T>G" "" "VUS" "" "0000917700" "3" "50" "2" "234628270" "234628270" "subst" "0.090119" "00006" "UGT1A4_000110" "g.234628270G>A" "1/50 controls" "{PMID:Yea 2008:18223459}" "" "" "combination of variants see Figs.3/4" "Germline" "" "" "0" "" "" "g.233719624G>A" "" "VUS" "" "0000917701" "3" "50" "2" "234628376" "234628376" "subst" "0.0908063" "00006" "UGT1A4_000111" "g.234628376C>T" "1/50 controls" "{PMID:Yea 2008:18223459}" "" "IVS1+43C>T" "combination of variants see Figs.3/4" "Germline" "" "rs2011219" "0" "" "" "g.233719730C>T" "" "VUS" "" "0000923657" "0" "90" "2" "234668893" "234668894" "dup" "0" "02326" "UGT1A4_000105" "g.234668893_234668894dup" "" "" "" "UGT1A1(NM_000463.3):c.-41_-40dupTA, UGT1A6(NM_001072.4):c.862-6788_862-6787dupAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000961972" "0" "90" "2" "234669048" "234669048" "subst" "0" "02325" "UGT1A1_000005" "g.234669048C>G" "" "" "" "UGT1A1(NM_000463.3):c.115C>G (p.H39D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975095" "0" "50" "2" "234669329" "234669334" "del" "0" "01804" "UGT1A1_000150" "g.234669329_234669334del" "" "" "" "UGT1A1(NM_000463.3):c.396_401del (p.(His132_Lys134delinsGln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975096" "0" "90" "2" "234669619" "234669619" "subst" "0.00143807" "01804" "UGT1A1_000014" "g.234669619C>A" "" "" "" "UGT1A1(NM_000463.3):c.686C>A (p.(Pro229Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000992664" "0" "50" "2" "234669127" "234669127" "subst" "2.437E-5" "02325" "UGT1A1_000190" "g.234669127C>T" "" "" "" "UGT1A1(NM_000463.3):c.194C>T (p.S65L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013686" "0" "50" "2" "234628292" "234628292" "subst" "0.00159641" "02325" "UGT1A1_000191" "g.234628292A>C" "" "" "" "UGT1A4(NM_007120.3):c.826A>C (p.I276L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013687" "0" "50" "2" "234669483" "234669483" "subst" "0" "02327" "UGT1A1_000192" "g.234669483A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013688" "0" "70" "2" "234676582" "234676582" "subst" "4.10179E-5" "02327" "UGT1A1_000169" "g.234676582G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001013689" "0" "50" "2" "234680952" "234680952" "subst" "4.90749E-5" "02325" "UGT1A1_000193" "g.234680952G>A" "" "" "" "UGT1A4(NM_007120.3):c.1352G>A (p.R451H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024557" "0" "90" "2" "234669144" "234669144" "subst" "0.0221034" "02325" "UGT1A1_000001" "g.234669144G>A" "" "" "" "UGT1A1(NM_000463.2):c.211G>A (p.G71R), UGT1A1(NM_000463.3):c.211G>A (p.G71R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033121" "0" "30" "2" "234637905" "234637905" "subst" "0.00428031" "01804" "UGT1A3_000004" "g.234637905C>T" "" "" "" "UGT1A3(NM_019093.4):c.133C>T (p.(Arg45Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033122" "0" "50" "2" "234669331" "234669331" "subst" "8.12229E-6" "01804" "UGT1A1_000194" "g.234669331A>G" "" "" "" "UGT1A1(NM_000463.3):c.398A>G (p.(Asn133Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033123" "0" "50" "2" "234669619" "234669619" "subst" "4.46857E-5" "02325" "UGT1A1_000195" "g.234669619C>T" "" "" "" "UGT1A1(NM_000463.3):c.686C>T (p.P229L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033124" "0" "50" "2" "234669681" "234669681" "subst" "0.000261146" "01804" "UGT1A1_000196" "g.234669681T>C" "" "" "" "UGT1A1(NM_000463.3):c.748T>C (p.(Ser250Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033125" "0" "50" "2" "234676940" "234676940" "subst" "0" "02327" "UGT1A1_000162" "g.234676940C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033126" "0" "50" "2" "234676944" "234676944" "subst" "4.10179E-5" "01804" "UGT1A1_000197" "g.234676944T>C" "" "" "" "UGT1A1(NM_000463.3):c.1163T>C (p.(Met388Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045816" "0" "90" "2" "234669155" "234669155" "subst" "4.06141E-6" "02325" "UGT1A1_000019" "g.234669155C>A" "" "" "" "UGT1A1(NM_000463.2):c.222C>A (p.Y74*), UGT1A1(NM_000463.3):c.222C>A (p.Y74*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 UGT1A4 ## Count = 108 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000253434" "00022340" "10" "868" "-6207" "868" "-6207" "c.868-6207A>G" "r.(=)" "p.(=)" "" "" "0000255493" "00022340" "90" "868" "-6662" "868" "-6662" "c.868-6662A>T" "r.(=)" "p.(=)" "" "" "0000255498" "00022340" "90" "1208" "0" "1208" "0" "c.1208A>C" "r.(?)" "p.(Lys403Thr)" "" "" "0000255499" "00022340" "90" "1223" "0" "1223" "0" "c.1223del" "r.(?)" "p.(Lys408ArgfsTer5)" "" "" "0000255567" "00022340" "90" "868" "-5912" "868" "-5912" "c.868-5912A>T" "r.(=)" "p.(=)" "" "" "0000255585" "00022340" "90" "1073" "0" "1073" "0" "c.1073A>G" "r.(?)" "p.(Gln358Arg)" "" "" "0000312939" "00022340" "30" "1125" "0" "1125" "0" "c.1125T>C" "r.(?)" "p.(Gly375=)" "" "" "0000312940" "00022340" "30" "1498" "0" "1498" "0" "c.1498G>A" "r.(?)" "p.(Val500Met)" "" "" "0000319252" "00022340" "90" "1008" "0" "1008" "0" "c.1008G>A" "r.(?)" "p.(Trp336Ter)" "" "" "0000319253" "00022340" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337Trp)" "" "" "0000319255" "00022340" "70" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Pro365Leu)" "" "" "0000319256" "00022340" "70" "1148" "0" "1153" "0" "c.1148_1153del" "r.(?)" "p.(Ile383_Cys384del)" "" "" "0000319257" "00022340" "90" "1163" "0" "1163" "0" "c.1163C>A" "r.(?)" "p.(Pro388His)" "" "" "0000319258" "00022340" "50" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Arg404Cys)" "" "" "0000319259" "00022340" "90" "1307" "1" "1307" "1" "c.1307+1G>T" "r.spl?" "p.?" "" "" "0000319260" "00022340" "50" "1351" "0" "1351" "0" "c.1351C>T" "r.(?)" "p.(Arg451Cys)" "" "" "0000319261" "00022340" "50" "1432" "0" "1432" "0" "c.1432G>A" "r.(?)" "p.(Ala478Thr)" "" "" "0000319262" "00022340" "90" "1459" "0" "1459" "0" "c.1459T>G" "r.(?)" "p.(Tyr487Asp)" "" "" "0000319263" "00022340" "90" "868" "-6602" "868" "-6602" "c.868-6602C>T" "r.(=)" "p.(=)" "" "" "0000319264" "00022340" "90" "1492" "0" "1492" "0" "c.1492del" "r.(?)" "p.(Ala498ProfsTer4)" "" "" "0000319265" "00022340" "70" "1570" "0" "1570" "0" "c.1570C>T" "r.(?)" "p.(Arg524Ter)" "" "" "0000319266" "00022340" "10" "868" "-6558" "868" "-6558" "c.868-6558C>T" "r.(=)" "p.(=)" "" "" "0000319267" "00022340" "90" "868" "-6525" "868" "-6525" "c.868-6525C>A" "r.(=)" "p.(=)" "" "" "0000319268" "00022340" "90" "868" "-6703" "868" "-6703" "c.868-6703T>G" "r.(=)" "p.(=)" "" "" "0000319269" "00022340" "90" "868" "-6277" "868" "-6277" "c.868-6277del" "r.(=)" "p.(=)" "" "" "0000319270" "00022340" "50" "868" "-6175" "868" "-6175" "c.868-6175C>T" "r.(=)" "p.(=)" "" "" "0000319271" "00022340" "90" "868" "-6171" "868" "-6171" "c.868-6171C>A" "r.(=)" "p.(=)" "" "" "0000319272" "00022340" "90" "868" "-6122" "868" "-6122" "c.868-6122C>T" "r.(=)" "p.(=)" "" "" "0000319273" "00022340" "90" "868" "-6073" "868" "-6073" "c.868-6073T>G" "r.(=)" "p.(=)" "" "" "0000319274" "00022340" "90" "868" "-5939" "868" "-5931" "c.868-5939_868-5931del" "r.(=)" "p.(=)" "" "" "0000319275" "00022340" "70" "868" "-5925" "868" "-5925" "c.868-5925del" "r.(=)" "p.(=)" "" "" "0000319276" "00022340" "90" "868" "-5908" "868" "-5908" "c.868-5908del" "r.(=)" "p.(=)" "" "" "0000319277" "00022340" "90" "880" "0" "894" "0" "c.880_894delinsA" "r.(?)" "p.(Tyr294ArgfsTer27)" "" "" "0000319278" "00022340" "90" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Gly309Glu)" "" "" "0000319279" "00022340" "10" "999" "15" "999" "15" "c.999+15T>C" "r.(=)" "p.(=)" "" "" "0000319280" "00022340" "10" "999" "18" "999" "18" "c.999+18C>T" "r.(=)" "p.(=)" "" "" "0000319282" "00022340" "50" "1151" "0" "1151" "0" "c.1151G>A" "r.(?)" "p.(Cys384Tyr)" "" "" "0000319283" "00022340" "30" "1152" "0" "1152" "0" "c.1152C>T" "r.(?)" "p.(Cys384=)" "" "" "0000319284" "00022340" "50" "-25657" "0" "-25657" "0" "c.-25657C>G" "r.(?)" "p.(=)" "" "" "0000328188" "00022340" "50" "-81539" "0" "-81539" "0" "c.-81539C>T" "r.(?)" "p.(=)" "" "" "0000328189" "00022340" "50" "-81469" "0" "-81469" "0" "c.-81469G>A" "r.(?)" "p.(=)" "" "" "0000328190" "00022340" "50" "967" "0" "967" "0" "c.967A>G" "r.(?)" "p.(Ile323Val)" "" "" "0000346239" "00022340" "50" "868" "-6536" "868" "-6536" "c.868-6536G>A" "r.(=)" "p.(=)" "" "" "0000347558" "00022340" "90" "1223" "0" "1223" "0" "c.1223del" "r.(?)" "p.(Lys408ArgfsTer5)" "" "" "0000350405" "00022340" "70" "868" "-6073" "868" "-6073" "c.868-6073T>G" "r.(=)" "p.(=)" "" "" "0000515156" "00022340" "50" "868" "-6565" "868" "-6565" "c.868-6565C>G" "r.(=)" "p.(=)" "" "" "0000515157" "00022340" "90" "868" "-6525" "868" "-6525" "c.868-6525C>A" "r.(=)" "p.(=)" "" "" "0000515158" "00022340" "30" "868" "-6462" "868" "-6462" "c.868-6462C>T" "r.(=)" "p.(=)" "" "" "0000515159" "00022340" "50" "868" "-6425" "868" "-6425" "c.868-6425C>T" "r.(=)" "p.(=)" "" "" "0000515160" "00022340" "50" "868" "-6277" "868" "-6277" "c.868-6277G>A" "r.(=)" "p.(=)" "" "" "0000515161" "00022340" "30" "868" "-6270" "868" "-6270" "c.868-6270C>A" "r.(=)" "p.(=)" "" "" "0000515162" "00022340" "90" "868" "-5907" "868" "-5907" "c.868-5907C>A" "r.(=)" "p.(=)" "" "" "0000515163" "00022340" "10" "1000" "-100" "1000" "-99" "c.1000-100_1000-99insGT" "r.(=)" "p.(=)" "" "" "0000515164" "00022340" "90" "1010" "0" "1013" "0" "c.1010_1013dup" "r.(?)" "p.(Tyr338Ter)" "" "" "0000515165" "00022340" "90" "1223" "0" "1223" "0" "c.1223del" "r.(?)" "p.(Lys408ArgfsTer5)" "" "" "0000620990" "00022340" "30" "1346" "0" "1346" "0" "c.1346A>G" "r.(?)" "p.(Lys449Arg)" "" "" "0000650501" "00022340" "50" "868" "-6536" "868" "-6536" "c.868-6536G>A" "r.(=)" "p.(=)" "" "" "0000650502" "00022340" "90" "1087" "1" "1087" "1" "c.1087+1G>T" "" "p.?" "" "" "0000650503" "00022340" "70" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Pro365Leu)" "" "" "0000650504" "00022340" "70" "1459" "0" "1459" "0" "c.1459T>G" "r.(?)" "p.(Tyr487Asp)" "" "" "0000654591" "00022340" "30" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(His68Tyr)" "" "" "0000669618" "00022340" "50" "868" "-6536" "868" "-6536" "c.868-6536G>A" "r.(=)" "p.(=)" "" "" "0000669619" "00022340" "70" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Pro365Leu)" "" "" "0000684745" "00022340" "30" "868" "-6061" "868" "-6061" "c.868-6061C>A" "r.(=)" "p.(=)" "" "" "0000688703" "00022340" "90" "868" "-6703" "868" "-6703" "c.868-6703T>G" "r.(=)" "p.(=)" "" "" "0000688704" "00022340" "50" "1325" "0" "1325" "0" "c.1325T>C" "r.(?)" "p.(Met442Thr)" "" "" "0000718627" "00022340" "30" "868" "-6606" "868" "-6606" "c.868-6606C>T" "r.(=)" "p.(=)" "" "" "0000718628" "00022340" "50" "868" "-6568" "868" "-6568" "c.868-6568T>C" "r.(=)" "p.(=)" "" "" "0000718629" "00022340" "90" "868" "-6536" "868" "-6536" "c.868-6536G>A" "r.(=)" "p.(=)" "" "" "0000800488" "00022340" "30" "867" "9877" "867" "9877" "c.867+9877T>C" "r.(=)" "p.(=)" "" "" "0000800489" "00022340" "70" "1570" "0" "1570" "0" "c.1570C>T" "r.(?)" "p.(Arg524Ter)" "" "" "0000849798" "00022340" "90" "1223" "0" "1223" "0" "c.1223del" "r.(?)" "p.(Lys408ArgfsTer5)" "" "" "0000858412" "00022340" "30" "867" "9912" "867" "9912" "c.867+9912C>G" "r.(=)" "p.(=)" "" "" "0000885023" "00022340" "70" "868" "-6787" "868" "-6786" "c.868-6787_868-6786dup" "r.(=)" "p.(=)" "" "" "0000885024" "00022340" "70" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Arg404Cys)" "" "" "0000917638" "00022340" "50" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "" "0000917639" "00022340" "50" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "" "0000917640" "00022340" "50" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "" "0000917641" "00022340" "50" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "" "0000917642" "00022340" "50" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Trp)" "" "UGT1A1*4" "0000917643" "00022340" "50" "142" "0" "142" "0" "c.142T>G" "r.(?)" "p.(Leu48Val)" "" "UGT1A1*3b" "0000917644" "00022340" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Gln98Ter)" "" "" "0000917645" "00022340" "50" "804" "0" "804" "0" "c.804G>A" "r.(?)" "p.(Pro268=)" "" "" "0000917646" "00022340" "50" "867" "43" "867" "43" "c.867+43C>T" "r.(=)" "p.(=)" "" "" "0000917695" "00022340" "50" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "" "0000917696" "00022340" "50" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "" "0000917697" "00022340" "50" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "" "0000917698" "00022340" "50" "" "0" "" "0" "-" "r.(=)" "p.(=)" "" "" "0000917699" "00022340" "50" "142" "0" "142" "0" "c.142T>G" "r.(?)" "p.(Leu48Val)" "" "UGT1A1*3b" "0000917700" "00022340" "50" "804" "0" "804" "0" "c.804G>A" "r.(?)" "p.(Pro268=)" "" "" "0000917701" "00022340" "50" "867" "43" "867" "43" "c.867+43C>T" "r.(=)" "p.(=)" "" "" "0000923657" "00022340" "90" "868" "-6787" "868" "-6786" "c.868-6787_868-6786dup" "r.(=)" "p.(=)" "" "" "0000961972" "00022340" "90" "868" "-6632" "868" "-6632" "c.868-6632C>G" "r.(=)" "p.(=)" "" "" "0000975095" "00022340" "50" "868" "-6351" "868" "-6346" "c.868-6351_868-6346del" "r.(=)" "p.(=)" "" "" "0000975096" "00022340" "90" "868" "-6061" "868" "-6061" "c.868-6061C>A" "r.(=)" "p.(=)" "" "" "0000992664" "00022340" "50" "868" "-6553" "868" "-6553" "c.868-6553C>T" "r.(=)" "p.(=)" "" "" "0001013686" "00022340" "50" "826" "0" "826" "0" "c.826A>C" "r.(?)" "p.(Ile276Leu)" "" "" "0001013687" "00022340" "50" "868" "-6197" "868" "-6197" "c.868-6197A>T" "r.(=)" "p.(=)" "" "" "0001013688" "00022340" "70" "1087" "0" "1087" "0" "c.1087G>A" "r.(?)" "p.(Gly363Ser)" "" "" "0001013689" "00022340" "50" "1352" "0" "1352" "0" "c.1352G>A" "r.(?)" "p.(Arg451His)" "" "" "0001024557" "00022340" "90" "868" "-6536" "868" "-6536" "c.868-6536G>A" "r.(=)" "p.(=)" "" "" "0001033121" "00022340" "30" "867" "9572" "867" "9572" "c.867+9572C>T" "r.(=)" "p.(=)" "" "" "0001033122" "00022340" "50" "868" "-6349" "868" "-6349" "c.868-6349A>G" "r.(=)" "p.(=)" "" "" "0001033123" "00022340" "50" "868" "-6061" "868" "-6061" "c.868-6061C>T" "r.(=)" "p.(=)" "" "" "0001033124" "00022340" "50" "868" "-5999" "868" "-5999" "c.868-5999T>C" "r.(=)" "p.(=)" "" "" "0001033125" "00022340" "50" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Pro388Ser)" "" "" "0001033126" "00022340" "50" "1166" "0" "1166" "0" "c.1166T>C" "r.(?)" "p.(Met389Thr)" "" "" "0001045816" "00022340" "90" "868" "-6525" "868" "-6525" "c.868-6525C>A" "r.(=)" "p.(=)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000293812" "0000650501" "0000293813" "0000650502" "0000293814" "0000650503" "0000293815" "0000650504" "0000305930" "0000669618" "0000305931" "0000669619" "0000309843" "0000684745" "0000432231" "0000917638" "0000432232" "0000917639" "0000432233" "0000917640" "0000432234" "0000917641" "0000432235" "0000917642" "0000432236" "0000917643" "0000432237" "0000917644" "0000432238" "0000917645" "0000432239" "0000917646" "0000432288" "0000917695" "0000432289" "0000917696" "0000432290" "0000917697" "0000432291" "0000917698" "0000432292" "0000917699" "0000432293" "0000917700" "0000432294" "0000917701"