### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ESRRB) # 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}}" "ESRRB" "estrogen-related receptor beta" "14" "q24.3" "unknown" "NG_012278.2" "UD_132118559017" "" "https://www.LOVD.nl/ESRRB" "" "1" "3473" "2103" "602167" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ESRRB_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-08-08 15:34:49" "00000" "2025-05-05 21:14:00" ## 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}}" "00007256" "ESRRB" "estrogen-related receptor beta" "001" "NM_004452.3" "" "NP_004443.3" "" "" "" "-371" "2643" "1527" "76837690" "76968180" "" "0000-00-00 00:00:00" "" "" ## 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" "02764" "DFNB35" "deafness, autosomal recessive, type 35 (DFNB-35)" "AR" "608565" "" "" "" "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}}" "ESRRB" "02764" ## 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}}" "00285064" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Collin 2008:18179891}" "" "" "" "" "" "0" "" "" "" "" "00285065" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285066" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285067" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00285068" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00285069" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285070" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285071" "" "" "" "1" "" "00004" "{PMID:Šafka Brožková 2012:22951369}" "" "" "" "" "" "0" "" "" "" "" "00285072" "" "" "" "1" "" "00004" "{PMID:Ben Saïd 2011:21802533}" "" "" "" "" "" "0" "" "" "" "" "00285073" "" "" "" "1" "" "00004" "{PMID:Collin 2008:18179891}" "" "" "" "" "" "0" "" "" "" "" "00285074" "" "" "" "1" "" "00004" "{PMID:Lee 2011:22567352}" "" "" "" "" "" "0" "" "" "" "" "00285075" "" "" "" "1" "" "00004" "{PMID:Collin 2008:18179891}" "" "" "" "" "" "0" "" "" "" "" "00285076" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Ansar 2003:12529709}, {PMID:Collin 2008:18179891}" "" "" "" "" "" "0" "" "" "" "" "00285077" "" "" "" "1" "" "00004" "{PMID:Collin 2008:18179891}" "" "" "" "" "" "0" "" "" "" "" "00285078" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285079" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}, {PMID:Collin 2008:18179891}" "" "" "" "" "" "0" "" "" "" "" "00285080" "" "" "" "1" "" "00004" "{PMID:Collin 2008:18179891}" "" "" "" "" "" "0" "" "" "" "" "00285081" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285082" "" "" "" "1" "" "00004" "{PMID:Yang 2013:23767834}" "" "" "" "" "" "0" "" "" "" "" "00285083" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285084" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00291119" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00441190" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4704" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00285064" "05086" "00285067" "05103" "00285068" "05103" "00285071" "05086" "00285072" "05086" "00285073" "05086" "00285074" "05086" "00285075" "05086" "00285076" "05086" "00285077" "05086" "00285079" "05103" "00285080" "05086" "00285081" "05103" "00285082" "05103" "00291119" "00198" "00441190" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02764, 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/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000218252" "05086" "00285064" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000218253" "05086" "00285071" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000218254" "05086" "00285072" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000218255" "05086" "00285073" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000218256" "05086" "00285074" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000218257" "05086" "00285075" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000218258" "05086" "00285076" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000218259" "05086" "00285077" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000218260" "05086" "00285080" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000218595" "05103" "00285067" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218596" "05103" "00285068" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218597" "05103" "00285079" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "type 35" "deafness, autosomal recessive" "" "0000218598" "05103" "00285081" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "type 35" "deafness, autosomal recessive" "" "0000218599" "05103" "00285082" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic" "" "0000330630" "05086" "00441190" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" ## 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}}" "0000286214" "00285064" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286215" "00285065" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286216" "00285066" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286217" "00285067" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286218" "00285068" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286219" "00285069" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286220" "00285070" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286221" "00285071" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286222" "00285072" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286223" "00285073" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286224" "00285074" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286225" "00285075" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286226" "00285076" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286227" "00285077" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286228" "00285078" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286229" "00285079" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286230" "00285080" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286231" "00285081" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286232" "00285082" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286233" "00285083" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286234" "00285084" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000292287" "00291119" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000442676" "00441190" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000286214" "ESRRB" "0000286215" "ESRRB" "0000286216" "ESRRB" "0000286217" "ESRRB" "0000286218" "ESRRB" "0000286219" "ESRRB" "0000286220" "ESRRB" "0000286221" "ESRRB" "0000286222" "ESRRB" "0000286223" "ESRRB" "0000286224" "ESRRB" "0000286225" "ESRRB" "0000286226" "ESRRB" "0000286227" "ESRRB" "0000286228" "ESRRB" "0000286229" "ESRRB" "0000286230" "ESRRB" "0000286231" "ESRRB" "0000286232" "ESRRB" "0000286233" "ESRRB" "0000286234" "ESRRB" ## 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 = 44 "{{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}}" "0000254954" "0" "30" "14" "76905712" "76905712" "subst" "0.0030824" "01943" "ESRRB_000001" "g.76905712A>G" "" "" "" "ESRRB(NM_004452.3):c.16A>G (p.R6G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76439369A>G" "" "likely benign" "" "0000267896" "0" "10" "14" "76957887" "76957887" "subst" "0.998909" "02325" "ESRRB_000003" "g.76957887T>C" "" "" "" "ESRRB(NM_004452.4):c.885T>C (p.Y295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76491544T>C" "" "benign" "" "0000276412" "0" "30" "14" "76958067" "76958067" "subst" "0.0017854" "01943" "ESRRB_000004" "g.76958067C>T" "" "" "" "ESRRB(NM_004452.3):c.1057+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76491724C>T" "" "likely benign" "" "0000276413" "0" "50" "14" "76964583" "76964583" "subst" "6.93408E-5" "01943" "ESRRB_000005" "g.76964583G>A" "" "" "" "ESRRB(NM_004452.3):c.1084G>A (p.A362T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76498240G>A" "" "VUS" "" "0000276414" "0" "50" "14" "76964643" "76964643" "subst" "0.000609786" "01943" "ESRRB_000006" "g.76964643C>T" "" "" "" "ESRRB(NM_004452.3):c.1144C>T (p.R382C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76498300C>T" "" "VUS" "" "0000276415" "0" "50" "14" "76964761" "76964761" "subst" "0" "01943" "ESRRB_000007" "g.76964761T>C" "" "" "" "ESRRB(NM_004452.3):c.1262T>C (p.M421T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76498418T>C" "" "VUS" "" "0000276416" "0" "30" "14" "76966275" "76966275" "subst" "0.00309649" "01943" "ESRRB_000008" "g.76966275T>C" "" "" "" "ESRRB(NM_004452.3):c.1366T>C (p.F456L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76499932T>C" "" "likely benign" "" "0000276417" "0" "30" "14" "76957863" "76957863" "subst" "0" "01943" "ESRRB_000002" "g.76957863C>A" "" "" "" "ESRRB(NM_004452.3):c.861C>A (p.G287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76491520C>A" "" "likely benign" "" "0000553121" "0" "30" "14" "76905839" "76905839" "subst" "0.000336259" "01943" "ESRRB_000009" "g.76905839C>T" "" "" "" "ESRRB(NM_004452.3):c.143C>T (p.A48V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76439496C>T" "" "likely benign" "" "0000553122" "0" "30" "14" "76928955" "76928955" "subst" "4.06197E-6" "01943" "ESRRB_000010" "g.76928955C>T" "" "" "" "ESRRB(NM_004452.3):c.465C>T (p.C155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76462612C>T" "" "likely benign" "" "0000553123" "0" "50" "14" "76948380" "76948380" "subst" "1.62434E-5" "01943" "ESRRB_000011" "g.76948380G>A" "" "" "" "ESRRB(NM_004452.3):c.536G>A (p.R179H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76482037G>A" "" "VUS" "" "0000553124" "0" "30" "14" "76948456" "76948456" "subst" "4.06147E-6" "01943" "ESRRB_000012" "g.76948456T>C" "" "" "" "ESRRB(NM_004452.3):c.612T>C (p.P204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76482113T>C" "" "likely benign" "" "0000553125" "0" "10" "14" "76957887" "76957887" "subst" "0.998909" "02327" "ESRRB_000003" "g.76957887T>C" "" "" "" "ESRRB(NM_004452.4):c.885T>C (p.Y295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76491544T>C" "" "benign" "" "0000553127" "0" "30" "14" "76966336" "76966336" "subst" "0.00048487" "01943" "ESRRB_000014" "g.76966336G>A" "" "" "" "ESRRB(NM_004452.3):c.1427G>A (p.R476H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76499993G>A" "" "likely benign" "" "0000641956" "1" "99" "14" "76906025" "76906025" "subst" "0" "00004" "ESRRB_000015" "g.76906025C>T" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Collin 2008:18179891}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76439682C>T" "" "pathogenic" "" "0000641957" "1" "33" "14" "76906047" "76906047" "subst" "0.000207359" "00004" "ESRRB_000016" "g.76906047G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76439704G>A" "" "likely benign" "" "0000641958" "1" "33" "14" "76906097" "76906097" "subst" "2.86121E-5" "00004" "ESRRB_000017" "g.76906097C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76439754C>T" "" "likely benign" "" "0000641959" "1" "99" "14" "76928965" "76928965" "subst" "4.06207E-6" "00004" "ESRRB_000018" "g.76928965C>T" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76462622C>T" "" "pathogenic" "" "0000641960" "1" "99" "14" "76948380" "76948380" "subst" "1.62434E-5" "00004" "ESRRB_000011" "g.76948380G>A" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76482037G>A" "" "pathogenic" "" "0000641961" "1" "55" "14" "76948931" "76948931" "subst" "4.87587E-5" "00004" "ESRRB_000019" "g.76948931G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76482588G>A" "" "VUS" "" "0000641962" "1" "33" "14" "76948978" "76948978" "subst" "0.000150249" "00004" "ESRRB_000020" "g.76948978G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76482635G>A" "" "likely benign" "" "0000641963" "1" "99" "14" "76957874" "76957874" "subst" "0" "00004" "ESRRB_000021" "g.76957874G>T" "" "{DB:DVD}, {PMID:Šafka Brožková 2012:22951369}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76491531G>T" "" "pathogenic" "" "0000641964" "1" "99" "14" "76957915" "76957915" "subst" "0" "00004" "ESRRB_000022" "g.76957915T>C" "" "{DB:DVD}, {PMID:Ben Saïd 2011:21802533}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76491572T>C" "" "pathogenic" "" "0000641965" "1" "99" "14" "76957961" "76957961" "subst" "0" "00004" "ESRRB_000023" "g.76957961T>C" "" "{DB:DVD}, {PMID:Collin 2008:18179891}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76491618T>C" "" "pathogenic" "" "0000641966" "1" "99" "14" "76958020" "76958022" "del" "0" "00004" "ESRRB_000024" "g.76958020_76958022del" "" "{DB:DVD}, {PMID:Lee 2011:22567352}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76491677_76491679del" "" "pathogenic" "" "0000641967" "1" "99" "14" "76958020" "76958026" "dup" "0" "00004" "ESRRB_000025" "g.76958020_76958026dup" "" "{DB:DVD}, {PMID:Collin 2008:18179891}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76491677_76491683dup" "" "pathogenic" "" "0000641968" "1" "99" "14" "76958026" "76958026" "subst" "0" "00004" "ESRRB_000026" "g.76958026G>T" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Ansar 2003:12529709}, {PMID:Collin 2008:18179891}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76491683G>T" "" "pathogenic" "" "0000641969" "1" "99" "14" "76958042" "76958042" "subst" "0" "00004" "ESRRB_000027" "g.76958042T>C" "" "{DB:DVD}, {PMID:Collin 2008:18179891}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76491699T>C" "" "pathogenic" "" "0000641970" "1" "33" "14" "76964612" "76964612" "subst" "4.4876E-5" "00004" "ESRRB_000028" "g.76964612C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76498269C>T" "" "likely benign" "" "0000641971" "1" "77" "14" "76964660" "76964660" "subst" "0" "00004" "ESRRB_000029" "g.76964660G>A" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}, {PMID:Collin 2008:18179891}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76498317G>A" "" "likely pathogenic" "" "0000641972" "1" "77" "14" "76964665" "76964665" "subst" "0.000119854" "00004" "ESRRB_000030" "g.76964665C>T" "" "{DB:DVD}, {PMID:Collin 2008:18179891}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76498322C>T" "" "likely pathogenic" "" "0000641973" "1" "77" "14" "76964704" "76964708" "del" "0" "00004" "ESRRB_000031" "g.76964704_76964708del" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76498361_76498365del" "" "likely pathogenic" "" "0000641974" "1" "99" "14" "76964770" "76964770" "subst" "0" "00004" "ESRRB_000032" "g.76964770T>C" "" "{DB:DVD}, {PMID:Yang 2013:23767834}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76498427T>C" "" "pathogenic" "" "0000641975" "1" "33" "14" "76964808" "76964808" "subst" "6.19502E-5" "00004" "ESRRB_000033" "g.76964808C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76498465C>T" "" "likely benign" "" "0000641976" "1" "33" "14" "76966336" "76966336" "subst" "0.00048487" "00004" "ESRRB_000014" "g.76966336G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.76499993G>A" "" "likely benign" "" "0000648976" "1" "10" "14" "76905712" "76905712" "subst" "0.0030824" "03575" "ESRRB_000001" "g.76905712A>G" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs143477571}" "Germline" "" "rs143477571" "0" "" "" "g.76439369A>G" "" "benign" "" "0000680057" "0" "30" "14" "76949060" "76949060" "subst" "4.06095E-6" "01943" "ESRRB_000034" "g.76949060C>A" "" "" "" "ESRRB(NM_004452.3):c.745C>A (p.R249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724881" "0" "50" "14" "76905709" "76905709" "subst" "1.23732E-5" "01943" "ESRRB_000035" "g.76905709G>C" "" "" "" "ESRRB(NM_004452.3):c.13G>C (p.D5H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806507" "0" "30" "14" "76957815" "76957815" "subst" "0.000439942" "01943" "ESRRB_000036" "g.76957815C>T" "" "" "" "ESRRB(NM_004452.3):c.813C>T (p.D271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863689" "0" "50" "14" "76967052" "76967052" "subst" "2.85156E-5" "01943" "ESRRB_000037" "g.76967052G>A" "" "" "" "ESRRB(NM_004452.3):c.1515G>A (p.W505*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925918" "0" "50" "14" "76957816" "76957816" "subst" "0" "02327" "ESRRB_000038" "g.76957816C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930338" "0" "70" "14" "76957789" "76957789" "subst" "0" "02327" "ESRRB_000039" "g.76957789G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000944003" "3" "90" "14" "76948380" "76948380" "subst" "1.62434E-5" "00006" "ESRRB_000011" "g.76948380G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.76482037G>A" "" "pathogenic (recessive)" "" "0001040115" "0" "50" "14" "76948406" "76948406" "subst" "7.30959E-5" "01804" "ESRRB_000040" "g.76948406C>T" "" "" "" "ESRRB(NM_001379180.1):c.625C>T (p.(Arg209Trp))" "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 ESRRB ## Count = 44 "{{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}}" "0000254954" "00007256" "30" "16" "0" "16" "0" "c.16A>G" "r.(?)" "p.(Arg6Gly)" "" "0000267896" "00007256" "10" "885" "0" "885" "0" "c.885T>C" "r.(?)" "p.(Tyr295=)" "" "0000276412" "00007256" "30" "1057" "8" "1057" "8" "c.1057+8C>T" "r.(=)" "p.(=)" "" "0000276413" "00007256" "50" "1084" "0" "1084" "0" "c.1084G>A" "r.(?)" "p.(Ala362Thr)" "" "0000276414" "00007256" "50" "1144" "0" "1144" "0" "c.1144C>T" "r.(?)" "p.(Arg382Cys)" "" "0000276415" "00007256" "50" "1262" "0" "1262" "0" "c.1262T>C" "r.(?)" "p.(Met421Thr)" "" "0000276416" "00007256" "30" "1366" "0" "1366" "0" "c.1366T>C" "r.(?)" "p.(Phe456Leu)" "" "0000276417" "00007256" "30" "861" "0" "861" "0" "c.861C>A" "r.(?)" "p.(Gly287=)" "" "0000553121" "00007256" "30" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Ala48Val)" "" "0000553122" "00007256" "30" "465" "0" "465" "0" "c.465C>T" "r.(?)" "p.(Cys155=)" "" "0000553123" "00007256" "50" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Arg179His)" "" "0000553124" "00007256" "30" "612" "0" "612" "0" "c.612T>C" "r.(?)" "p.(Pro204=)" "" "0000553125" "00007256" "10" "885" "0" "885" "0" "c.885T>C" "r.(?)" "p.(Tyr295=)" "" "0000553127" "00007256" "30" "1427" "0" "1427" "0" "c.1427G>A" "r.(?)" "p.(Arg476His)" "" "0000641956" "00007256" "99" "329" "0" "329" "0" "c.329C>T" "r.(?)" "p.(Ala110Val)" "4" "0000641957" "00007256" "33" "351" "0" "351" "0" "c.351G>A" "r.(=)" "p.(=)" "4" "0000641958" "00007256" "33" "397" "4" "397" "4" "c.397+4C>T" "r.spl?" "p.?" "4i" "0000641959" "00007256" "99" "475" "0" "475" "0" "c.475C>T" "r.(?)" "p.(Arg159Cys)" "5" "0000641960" "00007256" "99" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Arg179His)" "6" "0000641961" "00007256" "55" "626" "-10" "626" "-10" "c.626-10G>A" "r.(=)" "p.(=)" "6i" "0000641962" "00007256" "33" "663" "0" "663" "0" "c.663G>A" "r.(=)" "p.(=)" "7" "0000641963" "00007256" "99" "872" "0" "872" "0" "c.872G>T" "r.(?)" "p.(Arg291Leu)" "8" "0000641964" "00007256" "99" "913" "0" "913" "0" "c.913T>C" "r.(?)" "p.(Tyr305His)" "8" "0000641965" "00007256" "99" "959" "0" "959" "0" "c.959T>C" "r.(?)" "p.(Leu320Pro)" "8" "0000641966" "00007256" "99" "1018" "0" "1020" "0" "c.1018_1020del" "r.(?)" "p.(Glu340del)" "8" "0000641967" "00007256" "99" "1018" "0" "1024" "0" "c.1018_1024dup" "r.(?)" "p.(Val342Glyfs*45)" "8" "0000641968" "00007256" "99" "1024" "0" "1024" "0" "c.1024G>T" "r.(?)" "p.(Val342Leu)" "8" "0000641969" "00007256" "99" "1040" "0" "1040" "0" "c.1040T>C" "r.(?)" "p.(Leu347Pro)" "8" "0000641970" "00007256" "33" "1113" "0" "1113" "0" "c.1113C>T" "r.(=)" "p.(=)" "9" "0000641971" "00007256" "77" "1161" "0" "1161" "0" "c.1161G>A" "r.(?)" "p.(Trp387*)" "9" "0000641972" "00007256" "77" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Thr389Met)" "9" "0000641973" "00007256" "77" "1205" "0" "1209" "0" "c.1205_1209del" "r.(?)" "p.(Thr402Serfs*9)" "9" "0000641974" "00007256" "99" "1271" "0" "1271" "0" "c.1271T>C" "r.(?)" "p.(Leu424Pro)" "9" "0000641975" "00007256" "33" "1296" "13" "1296" "13" "c.1296+13C>T" "r.(=)" "p.(=)" "9i" "0000641976" "00007256" "33" "1427" "0" "1427" "0" "c.1427G>A" "r.(?)" "p.(Arg476His)" "10" "0000648976" "00007256" "10" "16" "0" "16" "0" "c.16A>G" "r.(?)" "p.(Arg6Gly)" "" "0000680057" "00007256" "30" "745" "0" "745" "0" "c.745C>A" "r.(?)" "p.(Arg249=)" "" "0000724881" "00007256" "50" "13" "0" "13" "0" "c.13G>C" "r.(?)" "p.(Asp5His)" "" "0000806507" "00007256" "30" "813" "0" "813" "0" "c.813C>T" "r.(?)" "p.(Asp271=)" "" "0000863689" "00007256" "50" "1515" "0" "1515" "0" "c.1515G>A" "r.(?)" "p.(Trp505*)" "" "0000925918" "00007256" "50" "814" "0" "814" "0" "c.814C>G" "r.(?)" "p.(Gln272Glu)" "" "0000930338" "00007256" "70" "788" "-1" "788" "-1" "c.788-1G>A" "r.spl?" "p.?" "" "0000944003" "00007256" "90" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Arg179His)" "" "0001040115" "00007256" "50" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000286214" "0000641956" "0000286215" "0000641957" "0000286216" "0000641958" "0000286217" "0000641959" "0000286218" "0000641960" "0000286219" "0000641961" "0000286220" "0000641962" "0000286221" "0000641963" "0000286222" "0000641964" "0000286223" "0000641965" "0000286224" "0000641966" "0000286225" "0000641967" "0000286226" "0000641968" "0000286227" "0000641969" "0000286228" "0000641970" "0000286229" "0000641971" "0000286230" "0000641972" "0000286231" "0000641973" "0000286232" "0000641974" "0000286233" "0000641975" "0000286234" "0000641976" "0000292287" "0000648976" "0000442676" "0000944003"