### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FOXI1) # 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}}" "FOXI1" "forkhead box I1" "5" "q34" "unknown" "NG_012068.1" "UD_132119026502" "" "http://www.LOVD.nl/FOXI1" "DIgenic diseases DAtabase (DIDA) " "1" "3815" "2299" "601093" "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/FOXI1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-09-09 15:03:17" "00006" "2025-05-22 11:32:24" ## 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}}" "00024165" "FOXI1" "transcript variant 1" "001" "NM_012188.4" "" "NP_036320.2" "" "" "" "-45" "2251" "1137" "169532917" "169536729" "00006" "2016-09-09 15:09:20" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00864" "DFNB4" "deafness, autosomal recessive, type 4, with enlarged vestibular aqueduct" "AR" "600791" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-05-22 11:27:54" "04147" "MRT" "mental retardation, autosomal recessive (MRT, intellectual disability (IDT))" "" "" "" "autosomal recessive" "" "00006" "2014-10-11 12:21:35" "00006" "2018-12-18 09:25:11" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FOXI1" "00864" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00080733" "" "" "" "1" "" "00006" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "2-generation family, 1 affcted, unaffected heterozygous carrier parents and brother" "F" "" "United States" "" "0" "" "" "" "" "00080735" "" "" "" "1" "" "00006" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "" "United States" "" "0" "" "" "" "" "00080736" "" "" "" "1" "" "00006" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "" "United States" "" "0" "" "" "" "" "00080737" "" "" "" "1" "" "00006" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "" "United States" "" "0" "" "" "" "" "00080738" "" "" "" "1" "" "00006" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "" "United States" "" "0" "" "" "" "" "00080739" "" "" "" "1" "" "00006" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "" "United States" "" "0" "" "" "" "" "00087238" "" "" "" "1" "" "01817" "" "" "M" "no" "" "" "0" "" "" "Chinese" "" "00218928" "" "" "" "1" "" "00006" "{PMID:Helbig 2017:28195318}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F;M" "no" "United States" "" "0" "" "" "Jewish-Ashkenazi;Yemen" "28195318-FamPat11/12" "00282819" "" "" "" "1" "" "00004" "{PMID:Landa 2013:23965030}" "" "" "" "" "" "0" "" "" "" "" "00282820" "" "" "" "1" "" "00004" "{PMID:Yang 2007:17503324}" "" "" "" "" "" "0" "" "" "" "" "00282821" "" "" "" "1" "" "00004" "{PMID:Cirello 2012:22285650}" "" "" "" "" "" "0" "" "" "" "" "00282822" "" "" "" "1" "" "00004" "{PMID:Yang 2007:17503324}" "" "" "" "" "" "0" "" "" "" "" "00282823" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301640}, {PMID:Yang 2007:17503324}" "" "" "" "" "" "0" "" "" "" "" "00282824" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301640}, {PMID:Yang 2007:17503324}" "" "" "" "" "" "0" "" "" "" "" "00282825" "" "" "" "1" "" "00004" "{PMID:Yang 2007:17503324}" "" "" "" "" "" "0" "" "" "" "" "00465595" "" "" "" "1" "" "00006" "{PMID:Lin 2019:30268946}" "" "" "" "Taiwan" "" "0" "" "" "" "DE3131" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00080733" "00864" "00080735" "00864" "00080736" "00864" "00080737" "00864" "00080738" "00864" "00080739" "00864" "00087238" "00864" "00218928" "04147" "00282819" "00198" "00282820" "00198" "00282821" "00198" "00282822" "00198" "00282823" "00198" "00282824" "00198" "00282825" "00198" "00465595" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00864, 04147, 05086 ## Count = 16 "{{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}}" "0000060309" "00864" "00080733" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060311" "00864" "00080735" "00006" "Unknown" "" "enlargement vestibular aqueduct with/without cochlear dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000060328" "00864" "00080736" "00006" "Unknown" "" "enlargement vestibular aqueduct with/without cochlear dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000060329" "00864" "00080737" "00006" "Unknown" "" "enlargement vestibular aqueduct with/without cochlear dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000060330" "00864" "00080738" "00006" "Unknown" "" "enlargement vestibular aqueduct with/without cochlear dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000060331" "00864" "00080739" "00006" "Unknown" "" "enlargement vestibular aqueduct with/without cochlear dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000066762" "00864" "00087238" "01817" "Isolated (sporadic)" "07y" "HP:0011387,HP:0000399,HP:0011476" "" "07y" "" "" "" "" "" "" "" "" "" "0000167469" "04147" "00218928" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "NEDIDHA" "" "" "0000216644" "00198" "00282819" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Enlarged vestibular aqueduct" "" "0000216645" "00198" "00282820" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000216646" "00198" "00282821" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000216647" "00198" "00282822" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000216648" "00198" "00282823" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000216649" "00198" "00282824" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000216650" "00198" "00282825" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000351142" "05086" "00465595" "00006" "Familial, autosomal recessive" "" "see paper; ..., deafness, enlarged vestibular aqueduct" "" "" "" "" "" "" "" "" "DFNB4" "deafness" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080829" "00080733" "1" "00006" "00006" "2016-09-09 15:19:31" "" "" "SEQ" "DNA" "" "" "0000080831" "00080735" "1" "00006" "00006" "2016-09-09 15:19:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000080851" "00080736" "1" "00006" "00006" "2016-09-09 15:19:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000080852" "00080737" "1" "00006" "00006" "2016-09-09 15:19:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000080853" "00080738" "1" "00006" "00006" "2016-09-09 15:19:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000080854" "00080739" "1" "00006" "00006" "2016-09-09 15:19:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000087378" "00087238" "1" "01817" "01817" "2016-11-17 04:37:50" "01817" "2016-11-17 05:04:01" "SEQ-NG-I" "DNA" "" "" "0000220000" "00218928" "1" "00006" "00006" "2019-02-01 10:32:03" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000283969" "00282819" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283970" "00282820" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283971" "00282821" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283972" "00282822" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283973" "00282823" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283974" "00282824" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283975" "00282825" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000467243" "00465595" "1" "00006" "00006" "2025-05-22 11:12:40" "00006" "2025-05-22 11:25:21" "SEQ-NG" "DNA" "" "SLC26A4, FOXI1, KCNJ10" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{geneid}}" "0000080829" "FOXI1" "0000080829" "SLC26A4" "0000080831" "FOXI1" "0000080831" "SLC26A4" "0000080851" "FOXI1" "0000080851" "SLC26A4" "0000080852" "FOXI1" "0000080852" "SLC26A4" "0000080853" "FOXI1" "0000080853" "SLC26A4" "0000080854" "FOXI1" "0000080854" "SLC26A4" "0000087378" "FOXI1" "0000087378" "KCNJ10" "0000087378" "SLC26A4" "0000220000" "DOCK3" "0000283969" "FOXI1" "0000283970" "FOXI1" "0000283971" "FOXI1" "0000283972" "FOXI1" "0000283973" "FOXI1" "0000283974" "FOXI1" "0000283975" "FOXI1" "0000467243" "FOXI1" ## 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 = 43 "{{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}}" "0000129880" "11" "90" "5" "169535251" "169535251" "subst" "8.12533E-5" "00006" "FOXI1_000001" "g.169535251G>A" "" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}, {OMIM601093:0001}" "" "G258E" "variant not in 500 control chromosomes; suggested digenic inheritance" "Germline" "yes" "rs121909340" "0" "" "" "g.170108247G>A" "" "pathogenic" "" "0000129882" "0" "90" "5" "169535251" "169535251" "subst" "8.12533E-5" "00006" "FOXI1_000001" "g.169535251G>A" "" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "FOX1 expression cloning and analysis in a promoter-reporter assay shows significantly decreased transcription of a SLC26A4 construct" "In vitro (cloned)" "-" "" "0" "" "" "g.170108247G>A" "" "NA" "" "0000129883" "0" "90" "5" "169535250" "169535250" "subst" "0" "00006" "FOXI1_000002" "g.169535250G>M" "" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "G258R" "FOX1 expression cloning and analysis in a promoter-reporter assay shows significantly decreased transcription of a SLC26A4 construct" "In vitro (cloned)" "-" "" "0" "" "" "g.170108246G>M" "" "NA" "" "0000129884" "0" "90" "5" "169535278" "169535278" "subst" "6.91051E-5" "00006" "FOXI1_000003" "g.169535278G>A" "" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}, {OMIM601093:0002}" "" "R267Q" "FOX1 expression cloning and analysis in a promoter-reporter assay shows significantly decreased transcription of a SLC26A4 construct" "In vitro (cloned)" "-" "rs121909341" "0" "" "" "g.170108274G>A" "" "NA" "" "0000129885" "0" "90" "5" "169533444" "169533446" "del" "0" "00006" "FOXI1_000004" "g.169533444_169533446del" "" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "N161del" "FOX1 expression cloning and analysis in a promoter-reporter assay shows significantly decreased transcription of a SLC26A4 construct" "In vitro (cloned)" "-" "" "0" "" "" "g.170106440_170106442del" "" "NA" "" "0000129886" "0" "90" "5" "169535482" "169535482" "subst" "8.45223E-6" "00006" "FOXI1_000005" "g.169535482G>T" "" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "G335V" "FOX1 expression cloning and analysis in a promoter-reporter assay shows significantly decreased transcription of a SLC26A4 construct" "In vitro (cloned)" "-" "" "0" "" "" "g.170108478G>T" "" "NA" "" "0000129887" "0" "90" "5" "169535278" "169535278" "subst" "6.91051E-5" "00006" "FOXI1_000003" "g.169535278G>A" "" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}, {OMIM601093:0002}" "" "R267Q" "not in 500 control chromosomes" "Germline" "" "rs121909341" "0" "" "" "g.170108274G>A" "" "pathogenic" "" "0000129909" "0" "90" "5" "169535250" "169535250" "subst" "0" "00006" "FOXI1_000002" "g.169535250G>M" "" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "G258R" "not in 500 control chromosomes" "Germline" "" "" "0" "" "" "g.170108246G>M" "" "pathogenic" "" "0000129910" "0" "90" "5" "169535278" "169535278" "subst" "6.91051E-5" "00006" "FOXI1_000003" "g.169535278G>A" "" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}, {OMIM601093:0002}" "" "R267Q" "not in 500 control chromosomes" "Germline" "" "rs121909341" "0" "" "" "g.170108274G>A" "" "pathogenic" "" "0000129911" "0" "90" "5" "169533444" "169533446" "del" "0" "00006" "FOXI1_000004" "g.169533444_169533446del" "" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "N161del" "not in 500 control chromosomes" "Germline" "" "" "0" "" "" "g.170106440_170106442del" "" "pathogenic" "" "0000129912" "0" "90" "5" "169535482" "169535482" "subst" "8.45223E-6" "00006" "FOXI1_000005" "g.169535482G>T" "" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "G335V" "not in 500 control chromosomes" "Germline" "" "" "0" "" "" "g.170108478G>T" "" "pathogenic" "" "0000140550" "0" "50" "5" "169533480" "169533480" "subst" "0" "01817" "FOXI1_000006" "g.169533480C>A" "" "author, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.170106476C>A" "" "VUS" "" "0000254279" "0" "30" "5" "169533378" "169533378" "subst" "0" "01943" "FOXI1_000010" "g.169533378A>G" "" "" "" "FOXI1(NM_012188.4):c.417A>G (p.A139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170106374A>G" "" "likely benign" "" "0000254804" "0" "30" "5" "169535563" "169535563" "subst" "0.000193211" "01943" "FOXI1_000012" "g.169535563A>G" "" "" "" "FOXI1(NM_012188.4):c.1085A>G (p.N362S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170108559A>G" "" "likely benign" "" "0000280864" "0" "10" "5" "169535522" "169535522" "subst" "0.910511" "02325" "FOXI1_000011" "g.169535522T>C" "" "" "" "FOXI1(NM_012188.5):c.1044T>C (p.Y348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170108518T>C" "" "benign" "" "0000280865" "0" "10" "5" "169533240" "169533240" "subst" "0.229621" "02325" "FOXI1_000008" "g.169533240G>A" "" "" "" "FOXI1(NM_012188.5):c.279G>A (p.R93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170106236G>A" "" "benign" "" "0000287856" "0" "50" "5" "169535607" "169535607" "subst" "1.2415E-5" "01943" "FOXI1_000013" "g.169535607G>A" "" "" "" "FOXI1(NM_012188.4):c.1129G>A (p.E377K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170108603G>A" "" "VUS" "" "0000287857" "0" "30" "5" "169532991" "169532991" "subst" "0.000386039" "01943" "FOXI1_000007" "g.169532991C>T" "" "" "" "FOXI1(NM_012188.4):c.30C>T (p.S10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170105987C>T" "" "likely benign" "" "0000287858" "0" "30" "5" "169533279" "169533279" "subst" "0.000643172" "01943" "FOXI1_000009" "g.169533279C>G" "" "" "" "FOXI1(NM_012188.4):c.318C>G (p.D106E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170106275C>G" "" "likely benign" "" "0000339523" "0" "10" "5" "169533240" "169533240" "subst" "0.229621" "02327" "FOXI1_000008" "g.169533240G>A" "" "" "" "FOXI1(NM_012188.5):c.279G>A (p.R93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170106236G>A" "" "benign" "" "0000339524" "0" "10" "5" "169535204" "169535204" "subst" "0.00530796" "02327" "FOXI1_000014" "g.169535204C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170108200C>T" "" "benign" "" "0000339525" "0" "10" "5" "169535450" "169535450" "subst" "0.012261" "02327" "FOXI1_000015" "g.169535450G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170108446G>C" "" "benign" "" "0000339526" "0" "10" "5" "169535522" "169535522" "subst" "0.910511" "02327" "FOXI1_000011" "g.169535522T>C" "" "" "" "FOXI1(NM_012188.5):c.1044T>C (p.Y348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170108518T>C" "" "benign" "" "0000454879" "21" "30" "5" "169535194" "169535194" "subst" "0.000239609" "00006" "FOXI1_000016" "g.169535194C>T" "" "{PMID:Helbig 2017:28195318}" "" "" "excluded single allele in AR disease gene inherited from the healthy mother with no clinical relevance to proband\'s presentation" "Germline" "" "" "0" "" "" "g.170108190C>T" "" "likely benign" "" "0000525158" "0" "50" "5" "169533388" "169533388" "subst" "0" "02327" "FOXI1_000017" "g.169533388C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170106384C>T" "" "VUS" "" "0000525159" "0" "30" "5" "169535194" "169535194" "subst" "0.000239609" "01943" "FOXI1_000016" "g.169535194C>T" "" "" "" "FOXI1(NM_012188.4):c.716C>T (p.P239L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170108190C>T" "" "likely benign" "" "0000525160" "0" "50" "5" "169535300" "169535300" "subst" "0.000854096" "01943" "FOXI1_000018" "g.169535300C>T" "" "" "" "FOXI1(NM_012188.4):c.822C>T (p.G274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170108296C>T" "" "VUS" "" "0000525161" "0" "10" "5" "169535492" "169535492" "subst" "0.00382797" "01943" "FOXI1_000019" "g.169535492G>A" "" "" "" "FOXI1(NM_012188.4):c.1014G>A (p.A338=), FOXI1(NM_012188.5):c.1014G>A (p.A338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170108488G>A" "" "benign" "" "0000525162" "0" "30" "5" "169535568" "169535568" "subst" "2.88101E-5" "01943" "FOXI1_000020" "g.169535568G>A" "" "" "" "FOXI1(NM_012188.4):c.1090G>A (p.V364I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170108564G>A" "" "likely benign" "" "0000525163" "0" "30" "5" "169535588" "169535588" "subst" "4.12643E-6" "01943" "FOXI1_000021" "g.169535588C>G" "" "" "" "FOXI1(NM_012188.4):c.1110C>G (p.L370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170108584C>G" "" "likely benign" "" "0000639711" "1" "77" "5" "169533328" "169533328" "subst" "0" "00004" "FOXI1_000022" "g.169533328C>T" "" "{DB:DVD}, {PMID:Landa 2013:23965030}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.170106324C>T" "" "likely pathogenic" "" "0000639712" "1" "99" "5" "169533444" "169533446" "del" "0" "00004" "FOXI1_000004" "g.169533444_169533446del" "" "{DB:DVD}, {PMID:Yang 2007:17503324}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.170106440_170106442del" "" "pathogenic" "" "0000639713" "1" "77" "5" "169535194" "169535194" "subst" "0.000239609" "00004" "FOXI1_000016" "g.169535194C>T" "" "{DB:DVD}, {PMID:Cirello 2012:22285650}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.170108190C>T" "" "likely pathogenic" "" "0000639714" "1" "99" "5" "169535250" "169535250" "subst" "0" "00004" "FOXI1_000023" "g.169535250G>C" "" "{DB:DVD}, {PMID:Yang 2007:17503324}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.170108246G>C" "" "pathogenic" "" "0000639715" "1" "99" "5" "169535251" "169535251" "subst" "8.12533E-5" "00004" "FOXI1_000001" "g.169535251G>A" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301640}, {PMID:Yang 2007:17503324}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.170108247G>A" "" "pathogenic" "" "0000639716" "1" "99" "5" "169535278" "169535278" "subst" "6.91051E-5" "00004" "FOXI1_000003" "g.169535278G>A" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301640}, {PMID:Yang 2007:17503324}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.170108274G>A" "" "pathogenic" "" "0000639717" "1" "99" "5" "169535482" "169535482" "subst" "8.45223E-6" "00004" "FOXI1_000005" "g.169535482G>T" "" "{DB:DVD}, {PMID:Yang 2007:17503324}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.170108478G>T" "" "pathogenic" "" "0000677466" "0" "50" "5" "169533269" "169533269" "subst" "4.30543E-5" "01943" "FOXI1_000024" "g.169533269G>A" "" "" "" "FOXI1(NM_012188.4):c.308G>A (p.G103E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802026" "0" "30" "5" "169535303" "169535303" "subst" "0.000687159" "01943" "FOXI1_000025" "g.169535303C>T" "" "" "" "FOXI1(NM_012188.4):c.825C>T (p.A275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859869" "0" "30" "5" "169535492" "169535492" "subst" "0.00382797" "02326" "FOXI1_000019" "g.169535492G>A" "" "" "" "FOXI1(NM_012188.4):c.1014G>A (p.A338=), FOXI1(NM_012188.5):c.1014G>A (p.A338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886746" "0" "30" "5" "169533195" "169533195" "subst" "1.0291E-5" "02326" "FOXI1_000026" "g.169533195C>T" "" "" "" "FOXI1(NM_012188.5):c.234C>T (p.G78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924303" "0" "30" "5" "169533269" "169533269" "subst" "0.00216348" "02326" "FOXI1_000027" "g.169533269G>C" "" "" "" "FOXI1(NM_012188.5):c.308G>C (p.G103A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045023" "0" "70" "5" "169533526" "169533526" "subst" "3.24968E-5" "00006" "FOXI1_000028" "g.169533526G>A" "" "{PMID:Lin 2019:30268946}" "" "" "ACMG PM1, PM2, PP3, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.170106522G>A" "" "likely 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 FOXI1 ## Count = 43 "{{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}}" "0000129880" "00024165" "90" "773" "0" "773" "0" "c.773G>A" "r.(773g>a)" "p.(Gly258Glu)" "2" "0000129882" "00024165" "90" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.Gly258Glu" "2" "0000129883" "00024165" "90" "772" "0" "772" "0" "c.772G>M" "r.(?)" "p.Gly258Arg" "2" "0000129884" "00024165" "90" "800" "0" "800" "0" "c.800G>A" "r.(?)" "p.Arg267Gln" "2" "0000129885" "00024165" "90" "483" "0" "485" "0" "c.483_485del" "r.(?)" "p.Asn161del" "1" "0000129886" "00024165" "90" "1004" "0" "1004" "0" "c.1004G>T" "r.(?)" "p.Gly335Val" "2" "0000129887" "00024165" "90" "800" "0" "800" "0" "c.800G>A" "r.(800g>a)" "p.(Arg267Gln)" "2" "0000129909" "00024165" "90" "772" "0" "772" "0" "c.772G>M" "r.(772g>m)" "p.(Gly258Arg)" "2" "0000129910" "00024165" "90" "800" "0" "800" "0" "c.800G>A" "r.(800g>a)" "p.(Arg267Gln)" "2" "0000129911" "00024165" "90" "483" "0" "485" "0" "c.483_485del" "r.(483_485del)" "p.(Asn161del)" "1" "0000129912" "00024165" "90" "1004" "0" "1004" "0" "c.1004G>T" "r.(1004g>t)" "p.(Gly335Val)" "2" "0000140550" "00024165" "50" "519" "0" "519" "0" "c.519C>A" "r.(?)" "p.(His173Gln)" "1" "0000254279" "00024165" "30" "417" "0" "417" "0" "c.417A>G" "r.(?)" "p.(Ala139=)" "" "0000254804" "00024165" "30" "1085" "0" "1085" "0" "c.1085A>G" "r.(?)" "p.(Asn362Ser)" "" "0000280864" "00024165" "10" "1044" "0" "1044" "0" "c.1044T>C" "r.(?)" "p.(Tyr348=)" "" "0000280865" "00024165" "10" "279" "0" "279" "0" "c.279G>A" "r.(?)" "p.(Arg93=)" "" "0000287856" "00024165" "50" "1129" "0" "1129" "0" "c.1129G>A" "r.(?)" "p.(Glu377Lys)" "" "0000287857" "00024165" "30" "30" "0" "30" "0" "c.30C>T" "r.(?)" "p.(Ser10=)" "" "0000287858" "00024165" "30" "318" "0" "318" "0" "c.318C>G" "r.(?)" "p.(Asp106Glu)" "" "0000339523" "00024165" "10" "279" "0" "279" "0" "c.279G>A" "r.(?)" "p.(Arg93=)" "" "0000339524" "00024165" "10" "726" "0" "726" "0" "c.726C>T" "r.(?)" "p.(Ser242=)" "" "0000339525" "00024165" "10" "972" "0" "972" "0" "c.972G>C" "r.(?)" "p.(Pro324=)" "" "0000339526" "00024165" "10" "1044" "0" "1044" "0" "c.1044T>C" "r.(?)" "p.(Tyr348=)" "" "0000454879" "00024165" "30" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Pro239Leu)" "" "0000525158" "00024165" "50" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Cys)" "" "0000525159" "00024165" "30" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Pro239Leu)" "" "0000525160" "00024165" "50" "822" "0" "822" "0" "c.822C>T" "r.(?)" "p.(Gly274=)" "" "0000525161" "00024165" "10" "1014" "0" "1014" "0" "c.1014G>A" "r.(?)" "p.(Ala338=)" "" "0000525162" "00024165" "30" "1090" "0" "1090" "0" "c.1090G>A" "r.(?)" "p.(Val364Ile)" "" "0000525163" "00024165" "30" "1110" "0" "1110" "0" "c.1110C>G" "r.(?)" "p.(Leu370=)" "" "0000639711" "00024165" "77" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123Trp)" "1" "0000639712" "00024165" "99" "483" "0" "485" "0" "c.483_485del" "r.(?)" "p.(Asn161del)" "1" "0000639713" "00024165" "77" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Pro239Leu)" "2" "0000639714" "00024165" "99" "772" "0" "772" "0" "c.772G>C" "r.(?)" "p.(Gly258Arg)" "2" "0000639715" "00024165" "99" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Gly258Glu)" "2" "0000639716" "00024165" "99" "800" "0" "800" "0" "c.800G>A" "r.(?)" "p.(Arg267Gln)" "2" "0000639717" "00024165" "99" "1004" "0" "1004" "0" "c.1004G>T" "r.(?)" "p.(Gly335Val)" "2" "0000677466" "00024165" "50" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Gly103Glu)" "" "0000802026" "00024165" "30" "825" "0" "825" "0" "c.825C>T" "r.(?)" "p.(Ala275=)" "" "0000859869" "00024165" "30" "1014" "0" "1014" "0" "c.1014G>A" "r.(?)" "p.(Ala338=)" "" "0000886746" "00024165" "30" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Gly78=)" "" "0000924303" "00024165" "30" "308" "0" "308" "0" "c.308G>C" "r.(?)" "p.(Gly103Ala)" "" "0001045023" "00024165" "70" "565" "0" "565" "0" "c.565G>A" "r.(?)" "p.(Asp189Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000080829" "0000129880" "0000080831" "0000129887" "0000080851" "0000129909" "0000080852" "0000129910" "0000080853" "0000129911" "0000080854" "0000129912" "0000087378" "0000140550" "0000220000" "0000454879" "0000283969" "0000639711" "0000283970" "0000639712" "0000283971" "0000639713" "0000283972" "0000639714" "0000283973" "0000639715" "0000283974" "0000639716" "0000283975" "0000639717" "0000467243" "0001045023"