### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = POU4F3) # 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}}" "POU4F3" "POU class 4 homeobox 3" "5" "q32" "no" "NG_011885.1" "UD_132119029869" "" "http://www.LOVD.nl/POU4F3" "" "1" "9220" "5459" "602460" "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/POU4F3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-17 10:24:03" "00000" "2025-11-01 13:22:20" ## 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}}" "00016578" "POU4F3" "POU class 4 homeobox 3" "001" "NM_002700.2" "" "NP_002691.1" "" "" "" "-89" "1093" "1017" "145718587" "145720083" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00350" "DFNA1" "deafness, autosomal dominant, type 1" "AD" "124900" "" "" "" "00081" "2014-03-13 13:45:31" "00006" "2021-12-10 21:51:32" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "02424" "DFNA15" "deafness, autosomal dominant, type 15 (DFNA-15)" "AD" "602459" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "POU4F3" "02424" ## Individuals ## Do not remove or alter this header ## ## Count = 29 "{{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}}" "00059181" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00080005" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080007" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00117279" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1547" "00117280" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "no" "France" "" "0" "" "" "" "S1642" "00282918" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282919" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282920" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282921" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282922" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282923" "" "" "" "1" "" "00004" "{PMID:Wei 2014:25388789}" "" "" "" "" "" "0" "" "" "" "" "00282924" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282925" "" "" "" "1" "" "00004" "{PMID:Yang 2013:23767834}" "" "" "" "" "" "0" "" "" "" "" "00282926" "" "" "" "1" "" "00004" "{PMID:Lee 2010:20434433}" "" "" "" "" "" "0" "" "" "" "" "00282927" "" "" "" "1" "" "00004" "{PMID:Collin 2008:18228599}, {PMID:Shearer 1993:20301607}" "" "" "" "" "" "0" "" "" "" "" "00282928" "" "" "" "1" "" "00004" "{PMID:Baek 2012:22938506}" "" "" "" "" "" "0" "" "" "" "" "00282929" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00282930" "" "" "" "1" "" "00004" "{PMID:Richards 2015:25741868}" "" "" "" "" "" "0" "" "" "" "" "00282931" "" "" "" "1" "" "00004" "{PMID:Collin 2008:18228599}, {PMID:Shearer 1993:20301607}" "" "" "" "" "" "0" "" "" "" "" "00282932" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Weiss 2003:14585957}, {PMID:Vahava 1998:9506947}, {PMID:Frenz 2008:20054994}" "" "" "" "" "" "0" "" "" "" "" "00282933" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Kim 2013:24260153}" "" "" "" "" "" "0" "" "" "" "" "00282934" "" "" "" "1" "" "00004" "{PMID:Mutai 2013:24164807}" "" "" "" "" "" "0" "" "" "" "" "00326998" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB307-610" "00327085" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB376-728" "00327129" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB347-679" "00327146" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB438-852" "00441354" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1595" "00465461" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465462" "" "" "" "5" "" "00006" "{PMID:Lin 2017:28790396}, {PMID:Wu 2019:31581539}" "3-generation family, 5 affected (4F, M)" "F;M" "" "Taiwan" "" "0" "" "" "" "family" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00059181" "00531" "00080005" "05103" "00080007" "05103" "00117279" "05103" "00117280" "05103" "00282923" "05086" "00282925" "05103" "00282926" "05103" "00282927" "05103" "00282928" "05086" "00282929" "05103" "00282931" "05103" "00282932" "05103" "00282933" "05103" "00282934" "05086" "00326998" "00350" "00327085" "05086" "00327129" "05086" "00327146" "05086" "00441354" "05086" "00465461" "05086" "00465462" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00350, 00531, 02424, 05086, 05103 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000092526" "05103" "00117279" "00110" "Familial, autosomal dominant" "61y" "" "" "" "" "" "" "" "" "" "" "0000092527" "05103" "00117280" "00110" "Familial, autosomal dominant" "08y" "" "" "" "" "" "" "" "" "" "" "0000218183" "05086" "00282923" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "0000218184" "05086" "00282928" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "0000218185" "05086" "00282934" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hearing loss, early-childhood" "0000218437" "05103" "00282925" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic" "0000218438" "05103" "00282926" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" "0000218439" "05103" "00282927" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" "0000218440" "05103" "00282929" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "deafness" "0000218441" "05103" "00282931" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" "0000218442" "05103" "00282932" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" "0000218443" "05103" "00282933" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" "0000330794" "05086" "00441354" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss" "0000351009" "05086" "00465461" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "hearing loss" "0000351010" "05086" "00465462" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "hearing loss" ## Screenings ## Do not remove or alter this header ## ## Count = 29 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059164" "00059181" "1" "01551" "01551" "2016-02-29 16:34:57" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000080083" "00080005" "1" "01740" "01740" "2016-09-01 11:42:24" "" "" "SEQ-NG" "DNA" "" "" "0000080085" "00080007" "1" "01740" "01740" "2016-09-01 11:44:54" "" "" "SEQ-NG" "DNA" "" "" "0000117747" "00117279" "1" "00110" "00110" "2017-08-17 11:27:03" "" "" "SEQ;SEQ-NG-I" "DNA" "" "gene panel" "0000117748" "00117280" "1" "00110" "00110" "2017-08-17 11:46:44" "00110" "2017-08-17 11:50:15" "SEQ;SEQ-NG-I" "DNA" "" "gene panel" "0000284068" "00282918" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284069" "00282919" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284070" "00282920" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284071" "00282921" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284072" "00282922" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284073" "00282923" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284074" "00282924" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284075" "00282925" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284076" "00282926" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284077" "00282927" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284078" "00282928" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284079" "00282929" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284080" "00282930" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284081" "00282931" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284082" "00282932" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284083" "00282933" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284084" "00282934" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000328212" "00326998" "1" "03611" "03611" "2021-01-18 09:54:18" "00006" "2021-01-18 10:59:14" "SEQ-NG-I" "DNA" "" "" "0000328299" "00327085" "1" "03611" "03611" "2021-01-20 04:19:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000328341" "00327129" "1" "03611" "03611" "2021-01-20 08:04:35" "" "" "SEQ-NG-I" "DNA" "" "" "0000328358" "00327146" "1" "03611" "03611" "2021-01-20 09:01:28" "" "" "SEQ-NG-I" "DNA" "" "" "0000442840" "00441354" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467110" "00465461" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467111" "00465462" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000059164" "POU4F3" "0000117747" "POU4F3" "0000117748" "POU4F3" "0000284068" "POU4F3" "0000284069" "POU4F3" "0000284070" "POU4F3" "0000284071" "POU4F3" "0000284072" "POU4F3" "0000284073" "POU4F3" "0000284074" "POU4F3" "0000284075" "POU4F3" "0000284076" "POU4F3" "0000284077" "POU4F3" "0000284078" "POU4F3" "0000284079" "POU4F3" "0000284080" "POU4F3" "0000284081" "POU4F3" "0000284082" "POU4F3" "0000284083" "POU4F3" "0000284084" "POU4F3" "0000328212" "POU4F3" ## 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 = 54 "{{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}}" "0000089983" "0" "50" "5" "145719709" "145719711" "del" "0" "01551" "POU4F3_000001" "g.145719709_145719711del" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.146340146_146340148del" "" "VUS" "" "0000128962" "1" "70" "5" "145719818" "145719819" "ins" "0" "01740" "POU4F3_000003" "g.145719818_145719819insT" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.146340255_146340256insT" "" "likely pathogenic" "" "0000128964" "1" "70" "5" "145719658" "145719658" "subst" "0" "01740" "POU4F3_000002" "g.145719658T>C" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.146340095T>C" "" "likely pathogenic" "" "0000188749" "21" "70" "5" "145719955" "145719955" "subst" "0" "00110" "POU4F3_000005" "g.145719955T>C" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.146340392T>C" "" "likely pathogenic" "" "0000188750" "11" "90" "5" "145719576" "145719576" "subst" "0" "00110" "POU4F3_000004" "g.145719576C>T" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.146340013C>T" "" "pathogenic" "" "0000347004" "0" "90" "5" "145719658" "145719658" "subst" "0" "02327" "POU4F3_000002" "g.145719658T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.146340095T>C" "" "pathogenic" "" "0000347508" "0" "90" "5" "145719818" "145719819" "ins" "0" "02327" "POU4F3_000003" "g.145719818_145719819insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.146340255_146340256insT" "" "pathogenic" "" "0000350475" "0" "70" "5" "145719942" "145719942" "subst" "0" "02327" "POU4F3_000008" "g.145719942G>A" "" "" "" "POU4F3(NM_002700.3):c.952G>A (p.V318M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.146340379G>A" "" "likely pathogenic" "" "0000350924" "0" "10" "5" "145718765" "145718765" "subst" "0.0314886" "02327" "POU4F3_000006" "g.145718765C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.146339202C>T" "" "benign" "" "0000524659" "0" "30" "5" "145719368" "145719368" "subst" "0.000579918" "01943" "POU4F3_000009" "g.145719368G>A" "" "" "" "POU4F3(NM_002700.3):c.378G>A (p.T126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146339805G>A" "" "likely benign" "" "0000524660" "0" "30" "5" "145719452" "145719452" "subst" "2.07034E-5" "02327" "POU4F3_000010" "g.145719452C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146339889C>G" "" "likely benign" "" "0000524661" "0" "30" "5" "145719503" "145719503" "subst" "9.88753E-5" "02327" "POU4F3_000011" "g.145719503C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146339940C>A" "" "likely benign" "" "0000524662" "0" "50" "5" "145719513" "145719513" "subst" "0" "01943" "POU4F3_000012" "g.145719513G>T" "" "" "" "POU4F3(NM_002700.3):c.523G>T (p.A175S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146339950G>T" "" "VUS" "" "0000524663" "0" "50" "5" "145719514" "145719514" "subst" "0" "01943" "POU4F3_000013" "g.145719514C>T" "" "" "" "POU4F3(NM_002700.3):c.524C>T (p.A175V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146339951C>T" "" "VUS" "" "0000524664" "0" "90" "5" "145719546" "145719546" "subst" "0" "01943" "POU4F3_000014" "g.145719546G>T" "" "" "" "POU4F3(NM_002700.3):c.556G>T (p.E186*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146339983G>T" "" "pathogenic" "" "0000524665" "0" "90" "5" "145719603" "145719603" "subst" "0" "02327" "POU4F3_000015" "g.145719603C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146340040C>T" "" "pathogenic" "" "0000524666" "0" "50" "5" "145719655" "145719655" "subst" "0" "02327" "POU4F3_000016" "g.145719655C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146340092C>T" "" "VUS" "" "0000524667" "0" "90" "5" "145719708" "145719708" "subst" "0" "02327" "POU4F3_000017" "g.145719708A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146340145A>G" "" "pathogenic" "" "0000609552" "0" "90" "5" "145718772" "145718772" "subst" "0" "02327" "POU4F3_000019" "g.145718772C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146339209C>T" "" "pathogenic" "" "0000609553" "0" "50" "5" "145719480" "145719480" "subst" "6.19824E-5" "02327" "POU4F3_000020" "g.145719480C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146339917C>T" "" "VUS" "" "0000609554" "0" "70" "5" "145719768" "145719768" "subst" "0" "02327" "POU4F3_000021" "g.145719768C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146340205C>T" "" "likely pathogenic" "" "0000639810" "1" "55" "5" "145718778" "145718778" "subst" "2.84257E-5" "00004" "POU4F3_000022" "g.145718778T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.146339215T>C" "" "VUS" "" "0000639811" "1" "33" "5" "145719182" "145719182" "subst" "8.12209E-6" "00004" "POU4F3_000023" "g.145719182T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.146339619T>C" "" "likely benign" "" "0000639812" "1" "33" "5" "145719368" "145719368" "subst" "0" "00004" "POU4F3_000024" "g.145719368G>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.146339805G>T" "" "likely benign" "" "0000639813" "1" "55" "5" "145719393" "145719393" "subst" "2.4854E-5" "00004" "POU4F3_000025" "g.145719393C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.146339830C>T" "" "VUS" "" "0000639814" "1" "55" "5" "145719480" "145719480" "subst" "6.19824E-5" "00004" "POU4F3_000020" "g.145719480C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.146339917C>T" "" "VUS" "" "0000639815" "1" "99" "5" "145719481" "145719481" "subst" "2.4793E-5" "00004" "POU4F3_000026" "g.145719481C>G" "" "{DB:DVD}, {PMID:Wei 2014:25388789}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.146339918C>G" "" "pathogenic" "" "0000639816" "1" "55" "5" "145719481" "145719481" "subst" "2.06608E-5" "00004" "POU4F3_000027" "g.145719481C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.146339918C>T" "" "VUS" "" "0000639817" "1" "99" "5" "145719596" "145719597" "del" "0" "00004" "POU4F3_000028" "g.145719596_145719597del" "" "{DB:DVD}, {PMID:Yang 2013:23767834}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.146340033_146340034del" "" "pathogenic" "" "0000639818" "1" "99" "5" "145719652" "145719665" "del" "0" "00004" "POU4F3_000029" "g.145719652_145719665del" "" "{DB:DVD}, {PMID:Lee 2010:20434433}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.146340089_146340102del" "" "pathogenic" "" "0000639819" "1" "99" "5" "145719658" "145719658" "subst" "0" "00004" "POU4F3_000002" "g.145719658T>C" "" "{DB:DVD}, {PMID:Collin 2008:18228599}, {PMID:Shearer 1993:20301607}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.146340095T>C" "" "pathogenic" "" "0000639820" "1" "99" "5" "145719684" "145719684" "subst" "0" "00004" "POU4F3_000030" "g.145719684G>A" "" "{DB:DVD}, {PMID:Baek 2012:22938506}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.146340121G>A" "" "pathogenic" "" "0000639821" "1" "99" "5" "145719726" "145719726" "subst" "0" "00004" "POU4F3_000031" "g.145719726C>A" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.146340163C>A" "" "pathogenic" "" "0000639822" "1" "77" "5" "145719838" "145719838" "subst" "0" "00004" "POU4F3_000032" "g.145719838C>T" "" "{DB:DVD}, {PMID:Richards 2015:25741868}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.146340275C>T" "" "likely pathogenic" "" "0000639823" "1" "99" "5" "145719855" "145719855" "subst" "0" "00004" "POU4F3_000007" "g.145719855C>T" "" "{DB:DVD}, {PMID:Collin 2008:18228599}, {PMID:Shearer 1993:20301607}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.146340292C>T" "" "pathogenic" "" "0000639824" "1" "99" "5" "145719872" "145719879" "del" "0" "00004" "POU4F3_000033" "g.145719872_145719879del" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Weiss 2003:14585957}, {PMID:Vahava 1998:9506947}, {PMID:Frenz 2008:20054994}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.146340309_146340316del" "" "pathogenic" "" "0000639825" "1" "99" "5" "145719967" "145719967" "subst" "0" "00004" "POU4F3_000034" "g.145719967G>A" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Kim 2013:24260153}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.146340404G>A" "" "pathogenic" "" "0000639826" "1" "99" "5" "145719997" "145719997" "del" "0" "00004" "POU4F3_000035" "g.145719997del" "" "{DB:DVD}, {PMID:Mutai 2013:24164807}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.146340434del" "" "pathogenic" "" "0000655315" "0" "50" "5" "145719108" "145719108" "subst" "8.13167E-6" "02327" "POU4F3_000036" "g.145719108C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146339545C>T" "" "VUS" "" "0000677427" "0" "50" "5" "145719942" "145719942" "subst" "0" "01943" "POU4F3_000008" "g.145719942G>A" "" "" "" "POU4F3(NM_002700.3):c.952G>A (p.V318M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000712147" "0" "50" "5" "145719733" "145719733" "subst" "0" "03611" "POU4F3_000037" "g.145719733T>C" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.146340170T>C" "" "VUS" "ACMG" "0000712245" "0" "50" "5" "145719342" "145719342" "subst" "0" "03611" "POU4F3_000038" "g.145719342G>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.146339779G>A" "" "VUS" "ACMG" "0000712285" "0" "50" "5" "145719942" "145719942" "subst" "0" "03611" "POU4F3_000008" "g.145719942G>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.146340379G>A" "" "VUS" "ACMG" "0000731242" "0" "50" "5" "145719568" "145719568" "subst" "0" "03779" "POU4F3_000040" "g.145719568G>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000794134" "0" "70" "5" "145719886" "145719886" "subst" "0" "03779" "POU4F3_000041" "g.145719886C>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000886658" "0" "90" "5" "145719406" "145719409" "dup" "0" "02327" "POU4F3_000042" "g.145719406_145719409dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000944167" "3" "70" "5" "145719364" "145719364" "subst" "0" "00006" "POU4F3_000043" "g.145719364C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.146339801C>T" "" "likely pathogenic (recessive)" "ACMG" "0000960163" "0" "50" "5" "145719869" "145719869" "subst" "0" "00006" "POU4F3_000039" "g.145719869C>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.146340306C>A" "" "VUS" "ACMG" "0000963500" "0" "90" "5" "145719272" "145719272" "del" "0" "02327" "POU4F3_000044" "g.145719272del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976633" "0" "30" "5" "145718788" "145718788" "subst" "4.06098E-6" "01804" "POU4F3_000045" "g.145718788C>A" "" "" "" "POU4F3(NM_002700.3):c.113C>A (p.(Ala38Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007027" "0" "50" "5" "145719709" "145719709" "subst" "0" "03779" "POU4F3_000046" "g.145719709A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001044879" "1" "90" "5" "145719481" "145719481" "subst" "2.4793E-5" "00006" "POU4F3_000026" "g.145719481C>G" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.146339918C>G" "" "pathogenic (dominant)" "" "0001044880" "1" "90" "5" "145719972" "145719972" "subst" "0" "00006" "POU4F3_000047" "g.145719972A>G" "" "{PMID:Lin 2017:28790396}, {PMID:Wu 2019:31581539}" "" "" "" "Germline" "yes" "" "0" "" "" "g.146340409A>G" "" "pathogenic (dominant)" "" "0001052145" "0" "50" "5" "145719891" "145719891" "subst" "0" "01804" "POU4F3_000048" "g.145719891T>A" "" "" "" "POU4F3(NM_002700.3):c.901T>A (p.(Ser301Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 POU4F3 ## Count = 54 "{{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}}" "0000089983" "00016578" "50" "719" "0" "721" "0" "c.719_721del" "r.(?)" "p.(Asn240del)" "" "0000128962" "00016578" "70" "828" "0" "829" "0" "c.828_829insT" "r.(?)" "p.(Lys277*)" "" "0000128964" "00016578" "70" "668" "0" "668" "0" "c.668T>C" "r.(?)" "p.(Leu223Pro)" "" "0000188749" "00016578" "70" "965" "0" "965" "0" "c.965T>C" "r.(?)" "p.(Phe322Ser)" "2" "0000188750" "00016578" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Gln196*)" "2" "0000347004" "00016578" "90" "668" "0" "668" "0" "c.668T>C" "r.(?)" "p.(Leu223Pro)" "" "0000347508" "00016578" "90" "828" "0" "829" "0" "c.828_829insT" "r.(?)" "p.(Lys277Ter)" "" "0000350475" "00016578" "70" "952" "0" "952" "0" "c.952G>A" "r.(?)" "p.(Val318Met)" "" "0000350924" "00016578" "10" "90" "0" "90" "0" "c.90C>T" "r.(?)" "p.(Ala30=)" "" "0000524659" "00016578" "30" "378" "0" "378" "0" "c.378G>A" "r.(?)" "p.(Thr126=)" "" "0000524660" "00016578" "30" "462" "0" "462" "0" "c.462C>G" "r.(?)" "p.(His154Gln)" "" "0000524661" "00016578" "30" "513" "0" "513" "0" "c.513C>A" "r.(?)" "p.(Ser171Arg)" "" "0000524662" "00016578" "50" "523" "0" "523" "0" "c.523G>T" "r.(?)" "p.(Ala175Ser)" "" "0000524663" "00016578" "50" "524" "0" "524" "0" "c.524C>T" "r.(?)" "p.(Ala175Val)" "" "0000524664" "00016578" "90" "556" "0" "556" "0" "c.556G>T" "r.(?)" "p.(Glu186Ter)" "" "0000524665" "00016578" "90" "613" "0" "613" "0" "c.613C>T" "r.(?)" "p.(Gln205Ter)" "" "0000524666" "00016578" "50" "665" "0" "665" "0" "c.665C>T" "r.(?)" "p.(Ser222Leu)" "" "0000524667" "00016578" "90" "718" "0" "718" "0" "c.718A>G" "r.(?)" "p.(Asn240Asp)" "" "0000609552" "00016578" "90" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Arg33Ter)" "" "0000609553" "00016578" "50" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Pro164Ser)" "" "0000609554" "00016578" "70" "778" "0" "778" "0" "c.778C>T" "r.(?)" "p.(Arg260Ter)" "" "0000639810" "00016578" "55" "103" "0" "103" "0" "c.103T>C" "r.(?)" "p.(Cys35Arg)" "1" "0000639811" "00016578" "33" "192" "0" "192" "0" "c.192T>C" "r.(=)" "p.(=)" "2" "0000639812" "00016578" "33" "378" "0" "378" "0" "c.378G>T" "r.(=)" "p.(=)" "2" "0000639813" "00016578" "55" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Pro135Ser)" "2" "0000639814" "00016578" "55" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Pro164Ser)" "2" "0000639815" "00016578" "99" "491" "0" "491" "0" "c.491C>G" "r.(?)" "p.(Pro164Arg)" "2" "0000639816" "00016578" "55" "491" "0" "491" "0" "c.491C>T" "r.(?)" "p.(Pro164Leu)" "2" "0000639817" "00016578" "99" "606" "0" "607" "0" "c.606_607del" "r.(?)" "p.(Val203Aspfs*11)" "2" "0000639818" "00016578" "99" "662" "0" "675" "0" "c.662_675del" "r.(?)" "p.(Gly221Glufs*77)" "2" "0000639819" "00016578" "99" "668" "0" "668" "0" "c.668T>C" "r.(?)" "p.(Leu223Pro)" "2" "0000639820" "00016578" "99" "694" "0" "694" "0" "c.694G>A" "r.(?)" "p.(Glu232Lys)" "2" "0000639821" "00016578" "99" "736" "0" "736" "0" "c.736C>A" "r.(?)" "p.(Pro246Thr)" "2" "0000639822" "00016578" "77" "848" "0" "848" "0" "c.848C>T" "r.(?)" "p.(Ala283Val)" "2" "0000639823" "00016578" "99" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Leu289Phe)" "2" "0000639824" "00016578" "99" "882" "0" "889" "0" "c.882_889del" "r.(?)" "p.(Ile295Thrfs*5)" "2" "0000639825" "00016578" "99" "977" "0" "977" "0" "c.977G>A" "r.(?)" "p.(Arg326Lys)" "2" "0000639826" "00016578" "99" "1007" "0" "1007" "0" "c.1007del" "r.(?)" "p.(Ala336Valfs*?)" "2" "0000655315" "00016578" "50" "121" "-3" "121" "-3" "c.121-3C>T" "r.spl?" "p.?" "" "0000677427" "00016578" "50" "952" "0" "952" "0" "c.952G>A" "r.(?)" "p.(Val318Met)" "" "0000712147" "00016578" "50" "743" "0" "743" "0" "c.743T>C" "r.(?)" "p.(Leu248Pro)" "" "0000712245" "00016578" "50" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Asp118Asn)" "" "0000712285" "00016578" "50" "952" "0" "952" "0" "c.952G>A" "r.(?)" "p.(Val318Met)" "" "0000731242" "00016578" "50" "578" "0" "578" "0" "c.578G>C" "r.(?)" "p.(Arg193Pro)" "" "0000794134" "00016578" "70" "896" "0" "896" "0" "c.896C>G" "r.(?)" "p.(Pro299Arg)" "" "0000886658" "00016578" "90" "416" "0" "419" "0" "c.416_419dup" "r.(?)" "p.(Met140Ilefs*33)" "" "0000944167" "00016578" "70" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Pro125Leu)" "" "0000960163" "00016578" "50" "879" "0" "879" "0" "c.879C>A" "r.(?)" "p.(Phe293Leu)" "" "0000963500" "00016578" "90" "282" "0" "282" "0" "c.282del" "r.(?)" "p.(Val95Cysfs*33)" "" "0000976633" "00016578" "30" "113" "0" "113" "0" "c.113C>A" "r.(?)" "p.(Ala38Asp)" "" "0001007027" "00016578" "50" "719" "0" "719" "0" "c.719A>G" "r.(?)" "p.(Asn240Ser)" "" "0001044879" "00016578" "90" "491" "0" "491" "0" "c.491C>G" "r,(?)" "p.(Pro164Arg)" "" "0001044880" "00016578" "90" "982" "0" "982" "0" "c.982A>G" "r,(?)" "p.(Lys328Glu)" "" "0001052145" "00016578" "50" "901" "0" "901" "0" "c.901T>A" "r.(?)" "p.(Ser301Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{variantid}}" "0000059164" "0000089983" "0000080083" "0000128962" "0000080085" "0000128964" "0000117747" "0000188749" "0000117748" "0000188750" "0000284068" "0000639810" "0000284069" "0000639811" "0000284070" "0000639812" "0000284071" "0000639813" "0000284072" "0000639814" "0000284073" "0000639815" "0000284074" "0000639816" "0000284075" "0000639817" "0000284076" "0000639818" "0000284077" "0000639819" "0000284078" "0000639820" "0000284079" "0000639821" "0000284080" "0000639822" "0000284081" "0000639823" "0000284082" "0000639824" "0000284083" "0000639825" "0000284084" "0000639826" "0000328212" "0000712147" "0000328299" "0000712245" "0000328341" "0000712285" "0000328358" "0000960163" "0000442840" "0000944167" "0000467110" "0001044879" "0000467111" "0001044880"