### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = IL23R)
# 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}}"
"IL23R" "interleukin 23 receptor" "1" "p31.2" "unknown" "NG_011498.1" "UD_132084563566" "" "https://www.LOVD.nl/IL23R" "" "1" "19100" "149233" "607562" "1" "1" "1" "1" "We gratefully acknowledge the efforts of Esther van de Vosse, curating this database until 2020. \r\nEstablishment 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" "2022-06-27 15:55:19" "00006" "2021-11-18 11:24:57"
## 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}}"
"00009986" "IL23R" "interleukin 23 receptor" "001" "NM_144701.2" "" "NP_653302.2" "" "" "" "-85" "2741" "1890" "67632169" "67725662" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{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"
"02558" "PSORS7" "psoriasis, susceptibility to, type 47" "" "605606" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02854" "BLAUS" "Blau syndrome (BLAUS, sarcoidosis)" "AD" "186580" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-10-27 16:26:16"
"03109" "IBD17" "bowel disease, inflammatory, type 17 (IBD-17)" "" "612261" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04152" "SPDA" "spondyloarthropathy (SPDA, ankylosing spondylitis)" "" "" "" "associated with" "" "00006" "2014-11-16 17:04:26" "00006" "2018-09-07 14:27:27"
"05467" "Behcet" "Behcet syndrome" "" "109650" "" "" "" "00006" "2018-08-22 09:45:03" "00006" "2021-12-10 21:51:32"
"05468" "uveitis" "uveitis" "" "" "" "" "" "00006" "2018-08-22 09:47:04" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"IL23R" "02558"
"IL23R" "03109"
## 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}}"
"00180403" "" "" "" "1" "" "02555" "{PMID:Brown 2015:25200001}" "European cohort" "F;M" "" "(United Kingdom (Great Britain))" "" "0" "{DB:Uveo3526?snp=rs11209026&t=1535716976}" "" "European" ""
"00180419" "" "" "" "1" "" "02555" "{PMID:Brown 2015:25200001}" "European cohort" "F;M" "" "(United Kingdom (Great Britain))" "" "0" "{DB:Uveo3517?snp=rs79755370&t=1535721411}" "" "European" ""
"00180423" "" "" "" "113" "" "02555" "{PMID:Brown 2016:26610302}" "British, Australian and New Zealand ancestry cohort" "F;M" "" "(United Kingdom (Great Britain))" "" "0" "{DB:Uveo3504?snp=rs11209026&t=1535722544}" "" "British, Australian and New Zealand ancestry" ""
"00180424" "" "" "" "136" "" "02555" "{PMID:Brown 2016:26610302}" "British, Australian and New Zealand ancestry cohort" "F;M" "" "(United Kingdom (Great Britain))" "" "0" "{DB:Uveo3508?snp=rs11465804&t=1535722558}" "" "British, Australian and New Zealand ancestry" ""
"00180447" "" "" "" "47" "" "02555" "{PMID:Dogan 2014:25156021}" "Turkish cohort" "F;M" "" "Turkey" "" "0" "{DB:Uveo3000?snp=rs17375018&t=1535702894}" "" "Turkish" ""
"00180454" "" "" "" "158" "" "02555" "{PMID:González-Escribano 2013:24286189}" "Spanish cohort" "F;M" "" "Spain" "" "0" "{DB:Uveo3703?snp=rs17375018&t=1535706620}" "" "Spanish" ""
"00180455" "" "" "" "201" "" "02555" "{PMID:González-Escribano 2013:24286189}" "Spanish cohort" "F;M" "" "Spain" "" "0" "{DB:Uveo3705?snp=rs1343151&t=1535706597}" "" "Spanish" ""
"00180456" "" "" "" "201" "" "02555" "{PMID:González-Escribano 2013:24286189}" "Spanish cohort" "F;M" "" "Spain" "" "0" "{DB:Uveo3704?snp=rs7517847&t=1535706654}" "" "Spanish" ""
"00180492" "" "" "" "161" "" "02555" "{PMID:Kijlstra 2010:20375120}" "Chinese Han cohort" "F;M" "" "China" "" "0" "{DB:Uveo4047?snp=rs17375018&t=1535374717}" "" "Chinese Han" ""
"00180522" "" "" "" "70" "" "02555" "{PMID:Martin 2011:21846945}" "Caucasian cohort" "F;M" "" "United States" "" "0" "{DB:Uveo3978?snp=rs7517847&t=1535791409}" "" "white" ""
"00180534" "" "" "" "1" "" "02555" "{PMID:Oliveira 2012:22378604}" "Iranian cohort" "F;M" "" "Iran" "" "0" "{DB:Uveo3224?snp=rs7517847&t=1535618149}" "" "Iranian" ""
"00180535" "" "" "" "1" "" "02555" "{PMID:Oliveira 2012:22378604}" "Iranian cohort" "F;M" "" "Iran" "" "0" "{DB:Uveo3225?snp=rs10489629&t=1535273764}" "" "Iranian" ""
"00180536" "" "" "" "1" "" "02555" "{PMID:Oliveira 2012:22378604}" "Iranian cohort" "F;M" "" "Iran" "" "0" "{DB:Uveo3225?snp=rs10489629&t=1535618126}" "" "Iranian" ""
"00180537" "" "" "" "1" "" "02555" "{PMID:Oliveira 2012:22378604}" "Iranian cohort" "F;M" "" "Iran" "" "0" "{DB:Uveo3226?snp=rs1343151%20&t=1535274222}" "" "Iranian" ""
"00180538" "" "" "" "1" "" "02555" "{PMID:Oliveira 2012:22378604}" "Iranian cohort" "F;M" "" "Iran" "" "0" "{DB:Uveo3226?snp=rs1343151&t=1535618108}" "" "Iranian" ""
"00180540" "" "" "" "1" "" "02555" "{PMID:Oliveira 2012:22378604}" "Iranian cohort" "F;M" "" "Iran" "" "0" "{DB:Uveo3223?snp=rs17375018%20&t=1535274679}" "" "Iranian" ""
"00180541" "" "" "" "1" "" "02555" "{PMID:Oliveira 2012:22378604}" "Iranian cohort" "F;M" "" "Iran" "" "0" "{DB:Uveo3223?snp=rs17375018&t=1535618086}" "" "Iranian" ""
"00180544" "" "" "" "1" "" "02555" "{PMID:Oliveira 2012:22378604}" "Iranian cohort" "F;M" "" "Iran" "" "0" "{DB:Uveo3224?snp=%20rs7517847&t=1535273098}" "" "Iranian" ""
"00180712" "" "" "" "512" "" "02555" "{PMID:Yang 2014:25108386}" "Chinese cohort" "F;M" "" "China" "" "0" "{DB:Uveo3498?snp=rs117633859&t=1535716057}" "" "Chinese" ""
"00180732" "" "" "" "14" "" "02555" "{PMID:Yang 2016:26628628}" "Chinese Singaporean cohort" "F;M" "" "China" "" "0" "{DB:Uveo3615?snp=rs117633859&t=1535716667}" "" "Chinese Singaporean" ""
"00289912" "" "" "" "57" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00324291" "" "" "" "1" "" "01723" "{PMID:Martinez-Barricarte 2018:30578351}\r\n\r\n{PMID:Mahdaviani 2020:32602053}" "1 family 2 patients II.1 and II.5\r\n\r\nalso published as P26 and P27 in {PMID:Mahdaviani 2020:32602053}" "F" "yes" "Iran" "12y" "0" "" "" "" "Kindred B II.1"
"00324293" "" "" "" "1" "" "01723" "{PMID:Mahdaviani 2020:32602053}" "" "M" "?" "Iran" ">02y" "0" "" "" "" "P28"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 23
"{{individualid}}" "{{diseaseid}}"
"00180403" "05468"
"00180419" "05468"
"00180423" "05468"
"00180424" "04152"
"00180447" "05467"
"00180454" "05467"
"00180455" "05467"
"00180456" "05467"
"00180492" "05467"
"00180522" "02854"
"00180534" "05467"
"00180535" "05467"
"00180536" "05467"
"00180537" "05467"
"00180538" "05467"
"00180540" "05467"
"00180541" "05467"
"00180544" "05467"
"00180712" "05468"
"00180732" "05468"
"00289912" "00198"
"00324291" "00198"
"00324293" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 02558, 02854, 03109, 04152, 05467, 05468
## Count = 20
"{{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}}"
"0000142798" "05468" "00180403" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Acute anterior uveitis (AAU)" "Uveitis" ""
"0000142814" "05468" "00180419" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Acute anterior uveitis (AAU)" "Uveitis" ""
"0000142818" "05468" "00180423" "02555" "Unknown" "" "with ankylosing spondylitis" "" "" "" "" "" "" "" "" "Acute anterior uveitis (AAU)" "uveitis" ""
"0000142819" "04152" "00180424" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Ankylosing spondylitis (AS)" "Ankylosing spondylitis" ""
"0000142842" "05467" "00180447" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" ""
"0000142849" "05467" "00180454" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" ""
"0000142850" "05467" "00180455" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" ""
"0000142851" "05467" "00180456" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" ""
"0000142887" "05467" "00180492" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" ""
"0000142917" "02854" "00180522" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sarcoidosis " ""
"0000142929" "05467" "00180534" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" ""
"0000142930" "05467" "00180535" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" ""
"0000142931" "05467" "00180536" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" ""
"0000142932" "05467" "00180537" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" ""
"0000142933" "05467" "00180538" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" ""
"0000142935" "05467" "00180540" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" ""
"0000142936" "05467" "00180541" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" ""
"0000142939" "05467" "00180544" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" ""
"0000143107" "05468" "00180712" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Vogt–Koyanagi–Harada syndrome (VKH)" "uveitis" ""
"0000143127" "05468" "00180732" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Vogt–Koyanagi–Harada syndrome (VKH)" "uveitis" ""
## 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}}"
"0000181340" "00180403" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181356" "00180419" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181360" "00180423" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181361" "00180424" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181384" "00180447" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181391" "00180454" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181392" "00180455" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181393" "00180456" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181429" "00180492" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181459" "00180522" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181471" "00180534" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181472" "00180535" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181473" "00180536" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181474" "00180537" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181475" "00180538" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181477" "00180540" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181478" "00180541" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181481" "00180544" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181649" "00180712" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181669" "00180732" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000291080" "00289912" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000325481" "00324291" "1" "01723" "01723" "2020-12-04 22:13:35" "" "" "?" "DNA" "" ""
"0000325483" "00324293" "1" "01723" "01723" "2020-12-04 22:45:26" "" "" "?" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 21
"{{screeningid}}" "{{geneid}}"
"0000181340" "IL23R"
"0000181356" "IL23R"
"0000181360" "IL23R"
"0000181361" "IL23R"
"0000181384" "IL23R"
"0000181391" "IL23R"
"0000181392" "IL23R"
"0000181393" "IL23R"
"0000181429" "IL23R"
"0000181459" "IL23R"
"0000181471" "IL23R"
"0000181472" "IL23R"
"0000181473" "IL23R"
"0000181474" "IL23R"
"0000181475" "IL23R"
"0000181477" "IL23R"
"0000181478" "IL23R"
"0000181481" "IL23R"
"0000181669" "IL23R"
"0000325481" "IL23R"
"0000325483" "IL23R"
## 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}}"
"0000320857" "0" "50" "1" "67724382" "67724382" "subst" "0.000138579" "01804" "IL23R_000002" "g.67724382A>C" "" "" "" "IL23R(NM_144701.2):c.1461A>C (p.(Gln487His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67258699A>C" "" "VUS" ""
"0000405036" "0" "50" "1" "67705958" "67705958" "subst" "0.0423227" "02555" "IL23R_000009" "g.67705958G>A" "" "{PMID:Brown 2015:25200001}" "" "" "{DB:Uveo3526?snp=rs11209026&t=1535716976}" "Germline" "" "rs11209026" "0" "" "" "g.67240275G>A" "" "VUS" ""
"0000405052" "0" "50" "1" "67699915" "67699915" "subst" "0" "02555" "IL23R_000007" "g.67699915C>A" "" "{PMID:Brown 2015:25200001}" "" "" "{DB:Uveo3517?snp=rs79755370&t=1535721411}" "Germline" "" "rs79755370" "0" "" "" "g.67234232C>A" "" "VUS" ""
"0000405056" "0" "50" "1" "67705958" "67705958" "subst" "0.0423227" "02555" "IL23R_000009" "g.67705958G>A" "113/2818 cases" "{PMID:Brown 2016:26610302}" "" "" "{DB:Uveo3504?snp=rs11209026&t=1535722544}" "Germline" "" "rs11209026" "0" "" "" "g.67240275G>A" "" "VUS" ""
"0000405057" "0" "50" "1" "67702526" "67702526" "subst" "0.0443188" "02555" "IL23R_000008" "g.67702526T>G" "136/3390 cases" "{PMID:Brown 2016:26610302}" "" "" "{DB:Uveo3508?snp=rs11465804&t=1535722558}" "Germline" "" "rs11465804" "0" "" "" "g.67236843T>G" "" "VUS" ""
"0000405080" "0" "50" "1" "67655147" "67655147" "subst" "0" "02555" "IL23R_000004" "g.67655147G>A" "47/246 cases" "{PMID:Dogan 2014:25156021}" "" "" "{DB:Uveo3000?snp=rs17375018&t=1535702894}" "Germline" "" "rs17375018" "0" "" "" "g.67189464G>A" "" "VUS" ""
"0000405087" "0" "50" "1" "67655147" "67655147" "subst" "0" "02555" "IL23R_000004" "g.67655147G>A" "158/608 cases" "{PMID:González-Escribano 2013:24286189}" "" "" "{DB:Uveo3703?snp=rs17375018&t=1535706620}" "Germline" "" "rs17375018" "0" "" "" "g.67189464G>A" "" "VUS" ""
"0000405088" "0" "50" "1" "67719129" "67719129" "subst" "0" "02555" "IL23R_000010" "g.67719129G>A" "201/608 cases" "{PMID:González-Escribano 2013:24286189}" "" "" "{DB:Uveo3705?snp=rs1343151&t=1535706597}" "Germline" "" "rs1343151" "0" "" "" "g.67253446G>A" "" "VUS" ""
"0000405089" "0" "50" "1" "67681669" "67681669" "subst" "0" "02555" "IL23R_000005" "g.67681669T>G" "201/608 cases" "{PMID:González-Escribano 2013:24286189}" "" "" "{DB:Uveo3704?snp=rs7517847&t=1535706654}" "Germline" "" "rs7517847" "0" "" "" "g.67215986T>G" "" "VUS" ""
"0000405125" "0" "50" "1" "67655147" "67655147" "subst" "0" "02555" "IL23R_000004" "g.67655147G>A" "161/676 cases" "{PMID:Kijlstra 2010:20375120}" "" "" "{DB:Uveo4047?snp=rs17375018&t=1535374717}" "Germline" "" "rs17375018" "0" "" "" "g.67189464G>A" "" "VUS" ""
"0000405155" "0" "50" "1" "67681669" "67681669" "subst" "0" "02555" "IL23R_000005" "g.67681669T>G" "70/182 cases" "{PMID:Martin 2011:21846945}" "" "" "{DB:Uveo3978?snp=rs7517847&t=1535791409}" "Germline" "" "rs7517847" "0" "" "" "g.67215986T>G" "" "VUS" ""
"0000405167" "0" "50" "1" "67681669" "67681669" "subst" "0" "02555" "IL23R_000005" "g.67681669T>G" "" "{PMID:Oliveira 2012:22378604}" "" "" "{DB:Uveo3224?snp=rs7517847&t=1535618149}" "Germline" "" "rs7517847" "0" "" "" "g.67215986T>G" "" "VUS" ""
"0000405168" "0" "50" "1" "67688349" "67688349" "subst" "0" "02555" "IL23R_000006" "g.67688349T>C" "" "{PMID:Oliveira 2012:22378604}" "" "" "{DB:Uveo3225?snp=rs10489629&t=1535273764}" "Germline" "" "rs10489629" "0" "" "" "g.67222666T>C" "" "VUS" ""
"0000405169" "0" "50" "1" "67688349" "67688349" "subst" "0" "02555" "IL23R_000006" "g.67688349T>C" "" "{PMID:Oliveira 2012:22378604}" "" "" "{DB:Uveo3225?snp=rs10489629&t=1535618126}" "Germline" "" "rs10489629" "0" "" "" "g.67222666T>C" "" "VUS" ""
"0000405170" "0" "50" "1" "67719129" "67719129" "subst" "0" "02555" "IL23R_000010" "g.67719129G>A" "" "{PMID:Oliveira 2012:22378604}" "" "" "{DB:Uveo3226?snp=rs1343151%20&t=1535274222}" "Germline" "" "rs1343151" "0" "" "" "g.67253446G>A" "" "VUS" ""
"0000405171" "0" "50" "1" "67719129" "67719129" "subst" "0" "02555" "IL23R_000010" "g.67719129G>A" "" "{PMID:Oliveira 2012:22378604}" "" "" "{DB:Uveo3226?snp=rs1343151&t=1535618108}" "Germline" "" "rs1343151" "0" "" "" "g.67253446G>A" "" "VUS" ""
"0000405173" "0" "50" "1" "67655147" "67655147" "subst" "0" "02555" "IL23R_000004" "g.67655147G>A" "" "{PMID:Oliveira 2012:22378604}" "" "" "{DB:Uveo3223?snp=rs17375018%20&t=1535274679}" "Germline" "" "rs17375018" "0" "" "" "g.67189464G>A" "" "VUS" ""
"0000405174" "0" "50" "1" "67655147" "67655147" "subst" "0" "02555" "IL23R_000004" "g.67655147G>A" "" "{PMID:Oliveira 2012:22378604}" "" "" "{DB:Uveo3223?snp=rs17375018&t=1535618086}" "Germline" "" "rs17375018" "0" "" "" "g.67189464G>A" "" "VUS" ""
"0000405177" "0" "50" "1" "67681669" "67681669" "subst" "0" "02555" "IL23R_000005" "g.67681669T>G" "" "{PMID:Oliveira 2012:22378604}" "" "" "{DB:Uveo3224?snp=%20rs7517847&t=1535273098}" "Germline" "" "rs7517847" "0" "" "" "g.67215986T>G" "" "VUS" ""
"0000405345" "0" "50" "1" "67627828" "67627828" "subst" "0" "02555" "IL23R_000003" "g.67627828A>G" "512/3198 cases" "{PMID:Yang 2014:25108386}" "" "" "{DB:Uveo3498?snp=rs117633859&t=1535716057}" "Germline" "" "rs117633859" "0" "" "" "g.67162145A>G" "" "VUS" ""
"0000405365" "0" "50" "1" "67627828" "67627828" "subst" "0" "02555" "IL23R_000003" "g.67627828A>G" "14/64 cases" "{PMID:Yang 2016:26628628}" "" "" "{DB:Uveo3615?snp=rs117633859&t=1535716667}" "Germline" "" "rs117633859" "0" "" "" "g.67162145A>G" "" "VUS" ""
"0000508269" "0" "10" "1" "67705900" "67705900" "subst" "0.0110778" "02326" "IL23R_000012" "g.67705900G>A" "" "" "" "IL23R(NM_144701.3):c.1084G>A (p.V362I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67240217G>A" "" "benign" ""
"0000647769" "1" "70" "1" "67705958" "67705958" "subst" "0.0423227" "03575" "IL23R_000009" "g.67705958G>A" "57/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "protective; 57 heterozygous, no homozygous; {DB:CLININrs11209026}" "Germline" "" "rs11209026" "0" "" "" "g.67240275G>A" "" "VUS (!)" ""
"0000708491" "3" "99" "1" "67648563" "67648563" "subst" "0" "01723" "IL23R_000013" "g.67648563C>T" "" "{PMID:Martinez-Barricarte 2018:30578351}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000708493" "3" "99" "1" "67635322" "67635322" "subst" "0" "01723" "IL23R_000014" "g.67635322G>A" "" "{PMID:Mohdaviani 2020:32602053}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
## 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 IL23R
## 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}}"
"0000320857" "00009986" "50" "1461" "0" "1461" "0" "c.1461A>C" "r.(?)" "p.(Gln487His)" ""
"0000405036" "00009986" "00" "1142" "0" "1142" "0" "c.1142G>A" "r.(?)" "p.(Arg381Gln)" ""
"0000405052" "00009986" "00" "956" "-2481" "956" "-2481" "c.956-2481C>A" "r.(=)" "p.(=)" ""
"0000405056" "00009986" "00" "1142" "0" "1142" "0" "c.1142G>A" "r.(?)" "p.(Arg381Gln)" ""
"0000405057" "00009986" "00" "1045" "41" "1045" "41" "c.1045+41T>G" "r.(=)" "p.(=)" ""
"0000405080" "00009986" "00" "491" "6505" "491" "6505" "c.491+6505G>A" "r.(=)" "p.(=)" ""
"0000405087" "00009986" "00" "491" "6505" "491" "6505" "c.491+6505G>A" "r.(=)" "p.(=)" ""
"0000405088" "00009986" "00" "1149" "-2391" "1149" "-2391" "c.1149-2391G>A" "r.(=)" "p.(=)" ""
"0000405089" "00009986" "00" "799" "-3588" "799" "-3588" "c.799-3588T>G" "r.(=)" "p.(=)" ""
"0000405125" "00009986" "00" "491" "6505" "491" "6505" "c.491+6505G>A" "r.(=)" "p.(=)" ""
"0000405155" "00009986" "00" "799" "-3588" "799" "-3588" "c.799-3588T>G" "r.(=)" "p.(=)" ""
"0000405167" "00009986" "00" "799" "-3588" "799" "-3588" "c.799-3588T>G" "r.(=)" "p.(=)" ""
"0000405168" "00009986" "00" "955" "2936" "955" "2936" "c.955+2936T>C" "r.(=)" "p.(=)" ""
"0000405169" "00009986" "00" "955" "2936" "955" "2936" "c.955+2936T>C" "r.(=)" "p.(=)" ""
"0000405170" "00009986" "00" "1149" "-2391" "1149" "-2391" "c.1149-2391G>A" "r.(=)" "p.(=)" ""
"0000405171" "00009986" "00" "1149" "-2391" "1149" "-2391" "c.1149-2391G>A" "r.(=)" "p.(=)" ""
"0000405173" "00009986" "00" "491" "6505" "491" "6505" "c.491+6505G>A" "r.(=)" "p.(=)" ""
"0000405174" "00009986" "00" "491" "6505" "491" "6505" "c.491+6505G>A" "r.(=)" "p.(=)" ""
"0000405177" "00009986" "00" "799" "-3588" "799" "-3588" "c.799-3588T>G" "r.(=)" "p.(=)" ""
"0000405345" "00009986" "00" "-4426" "0" "-4426" "0" "c.-4426A>G" "r.(=)" "p.(=)" ""
"0000405365" "00009986" "00" "-4426" "0" "-4426" "0" "c.-4426A>G" "r.(=)" "p.(=)" ""
"0000508269" "00009986" "10" "1084" "0" "1084" "0" "c.1084G>A" "r.(?)" "p.(Val362Ile)" ""
"0000647769" "00009986" "70" "1142" "0" "1142" "0" "c.1142G>A" "r.(?)" "p.(Arg381Gln)" ""
"0000708491" "00009986" "99" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Cys115Tyr)" "3"
"0000708493" "00009986" "99" "367" "1" "367" "1" "c.367+1G>A" "r.spl?" "p.?" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 23
"{{screeningid}}" "{{variantid}}"
"0000181340" "0000405036"
"0000181356" "0000405052"
"0000181360" "0000405056"
"0000181361" "0000405057"
"0000181384" "0000405080"
"0000181391" "0000405087"
"0000181392" "0000405088"
"0000181393" "0000405089"
"0000181429" "0000405125"
"0000181459" "0000405155"
"0000181471" "0000405167"
"0000181472" "0000405168"
"0000181473" "0000405169"
"0000181474" "0000405170"
"0000181475" "0000405171"
"0000181477" "0000405173"
"0000181478" "0000405174"
"0000181481" "0000405177"
"0000181649" "0000405345"
"0000181669" "0000405365"
"0000291080" "0000647769"
"0000325481" "0000708491"
"0000325483" "0000708493"