### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NR5A1) # 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}}" "NR5A1" "nuclear receptor subfamily 5, group A, member 1" "9" "q33" "unknown" "NG_008176.1" "UD_132118307947" "" "https://www.LOVD.nl/NR5A1" "" "1" "7983" "2516" "184757" "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/NR5A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2017-11-05 11:16:36" "00006" "2025-03-31 14:22:24" ## 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}}" "00014792" "NR5A1" "nuclear receptor subfamily 5, group A, member 1" "001" "NM_004959.4" "" "NP_004950.2" "" "" "" "-187" "2908" "1386" "127269699" "127243515" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01193" "BPES" "blepharophimosis, ptosis, and epicanthus inversus (BPES)" "AD;AR" "110100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-04-20 14:30:33" "03220" "POF7" "ovarian failure, premature, type 7 (POF-7)" "AD" "612964" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03221" "SRXY3" "46,XY sex reversal, type 3 (SRXY-3)" "AD" "612965" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03496" "SPGF8" "spermatogenic failure, type 8 (SPGF-8)" "AD" "613957" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05340" "SRXY" "46,XY sex reversal (SRXY)" "" "" "" "" "" "00006" "2017-11-05 11:48:12" "" "" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" "05584" "SRXX4" "46,XX sex reversal, type 4 (SRXX-4)" "AD" "617480" "" "autosomal dominant" "" "00006" "2019-03-14 07:58:25" "00006" "2021-12-10 21:51:32" "05597" "DSD" "disorder of sex development (DSD)" "" "" "" "" "" "00006" "2019-04-28 14:45:24" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "NR5A1" "03220" "NR5A1" "03221" "NR5A1" "03496" "NR5A1" "05584" ## Individuals ## Do not remove or alter this header ## ## Count = 102 "{{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}}" "00132768" "" "" "" "1" "" "02297" "" "" "M" "no" "China" "" "0" "" "" "Hong Kong" "" "00132769" "" "" "" "7" "" "02298" "" "family, 7 affecteds" "M" "no" "Indonesia" "" "0" "" "" "" "" "00165039" "" "" "" "1" "" "02514" "{PMID:Sreenivasan 2018:30067310}, {DOI:Sreenivasan 2018:10.1002/humu.23603}, contributed by Ken McElreavey (Institut Pasteur)" "46,XY DSD" "" "" "France" "" "0" "" "" "" "Gly165Arg" "00165040" "" "" "" "1" "" "02514" "{PMID:Sreenivasan 2018:30067310}, {DOI:Sreenivasan 2018:10.1002/humu.23603}, contributed by Ken McElreavey (Institut Pasteur)" "" "" "" "France" "" "0" "" "" "" "D8G" "00226682" "" "" "" "1" "" "03225" "{PMID:Fabbri-Scallet 2017:29027717}" "" "M" "" "Brazil" "" "0" "" "" "" "patient 5" "00227771" "" "" "" "1" "" "03225" "{PMID:Fabbri-Scallet 2017:29027717}" "46,XY DSD" "" "" "Brazil" "" "0" "" "" "" "patient 4" "00227772" "" "" "" "1" "" "03225" "{PMID:Fabbri-Scallet 2017:29027717}" "46,XY DSD" "" "" "Brazil" "" "0" "" "" "" "patient 6" "00227773" "" "" "" "1" "" "03225" "{PMID:Fabbri-Scallet 2017:29027717}" "46,XY DSD" "" "" "Brazil" "" "0" "" "" "" "patient 7" "00227774" "" "" "" "3" "" "03225" "{PMID:Fabbri 2014:24405868}" "46,XY DSD; three siblings affected, heterozygous carrier mother" "" "" "Brazil" "" "0" "" "" "" "patient 1/2/3" "00227818" "" "" "" "1" "" "03225" "{PMID:Fabbri 2016:27463801}" "46,XY DSD" "" "" "Brazil" "" "0" "" "" "" "patient 1" "00227861" "" "" "" "1" "" "03225" "{PMID:Fabbri 2016:27463801}" "46,XY DSD" "" "" "Brazil" "" "0" "" "" "" "patient 2" "00227862" "" "" "" "1" "" "03225" "{PMID:Fabbri 2016:27463801}" "46,XY DSD" "" "" "Brazil" "" "0" "" "" "" "patient 3" "00227863" "" "" "" "1" "" "00006" "{PMID:Achermann 1999:10369247}" "2-generation family, unaffected non-carrier parents" "rF" "" "United States" "" "0" "" "" "" "patient" "00227864" "" "" "" "1" "" "00006" "{PMID:Biason-Lauber 2000:11038323}" "" "" "" "" "" "0" "" "" "" "patient" "00227865" "" "" "" "4" "" "00006" "{PMID:Achermann 2002:11932325}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sister" "rF" "" "United States" "" "0" "" "" "" "patient" "00227866" "" "" "" "1" "" "00006" "{PMID:WuQiang 2003:14623279}" "" "" "" "" "" "0" "" "" "" "patient" "00227867" "" "" "" "1" "" "00006" "{PMID:Correa 2004:15070943}" "" "rF" "" "United States" "" "0" "" "" "" "patient" "00227868" "" "" "" "1" "" "00006" "{PMID:Mallet 2004:15472171}" "" "" "" "France" "" "0" "" "" "" "patient" "00227869" "" "" "" "1" "" "00006" "{PMID:Hasegawa 2004:15579739}" "" "rF" "" "Japan" "" "0" "" "" "" "patient" "00227870" "" "" "" "1" "" "00006" "{PMID:Lin 2007:17200175}" "" "rF" "" "Italy" "" "0" "" "" "" "patient 2" "00227871" "" "" "" "1" "" "00006" "{PMID:Lin 2007:17200175}" "" "rF" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient 1" "00227872" "" "" "" "1" "" "00006" "{PMID:Lin 2007:17200175}" "" "rM" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "patient 4" "00227873" "" "" "" "1" "" "00006" "{PMID:Lin 2007:17200175}" "" "rF" "" "Fiji" "" "0" "" "" "" "patient 3" "00227874" "" "" "" "1" "" "00006" "{PMID:Coutant 2007:17488792}" "" "" "" "" "" "0" "" "" "" "patient" "00227875" "" "" "" "1" "" "00006" "{PMID:Reuter 2007:17656604}" "" "" "" "" "" "0" "" "" "" "patient" "00227876" "" "" "" "1" "" "00006" "{PMID:Kohler 2008:17694559}" "" "rF" "" "Germany" "" "0" "" "" "" "patient 2" "00227877" "" "" "" "1" "" "00006" "{PMID:Kohler 2008:17694559}" "" "rF" "" "Germany" "" "0" "" "" "" "patient 3" "00227878" "" "" "" "1" "" "00006" "{PMID:Kohler 2008:17694559}" "" "rF" "" "Germany" "" "0" "" "" "" "patient 1" "00227879" "" "" "" "1" "" "00006" "{PMID:Kohler 2008:17694559}" "" "rF" "" "Germany" "" "0" "" "" "" "patient 5" "00227880" "" "" "" "1" "" "00006" "{PMID:Kohler 2008:17694559}" "" "rF" "" "Germany" "" "0" "" "" "" "patient 4" "00227881" "" "" "" "1" "" "00006" "{PMID:Philibert 2007:17940071}" "heterozygous carrier mother and dizygotic twin brother" "rM" "" "France" "" "0" "" "" "" "patient" "00227882" "" "" "" "1" "" "00006" "{PMID:Lourenço 2009:19246354}" "" "" "" "" "" "0" "" "" "" "patient" "00227883" "" "" "" "1" "" "00006" "{PMID:Lourenço 2009:19246354}" "" "" "" "" "" "0" "" "" "" "patient" "00227884" "" "" "" "1" "" "00006" "{PMID:Lourenço 2009:19246354}" "" "" "" "" "" "0" "" "" "" "patient" "00227885" "" "" "" "1" "" "00006" "{PMID:Lourenço 2009:19246354}" "" "" "" "" "" "0" "" "" "" "patient" "00227886" "" "" "" "1" "" "00006" "{PMID:Lourenço 2009:19246354}" "" "" "" "" "" "0" "" "" "" "patient" "00227887" "" "" "" "1" "" "00006" "{PMID:Tajima 2009:19318730}" "" "" "" "" "" "0" "" "" "" "patient" "00227888" "" "" "" "1" "" "00006" "{PMID:Köhler 2009:19439508}" "" "" "" "" "" "0" "" "" "" "patient" "00227889" "" "" "" "1" "" "00006" "{PMID:Köhler 2009:19439508}" "" "" "" "" "" "0" "" "" "" "patient" "00227890" "" "" "" "1" "" "00006" "{PMID:Köhler 2009:19439508}" "" "" "" "" "" "0" "" "" "" "patient" "00227891" "" "" "" "1" "" "00006" "{PMID:Philibert 2010:20302644}" "" "rF" "" "France" "" "0" "" "" "" "patient 3" "00227892" "" "" "" "1" "" "00006" "{PMID:Philibert 2010:20302644}" "" "rF" "" "France" "" "0" "" "" "" "patient 4" "00227893" "" "" "" "1" "" "00006" "{PMID:Philibert 2010:20302644}" "" "rF" "" "France" "" "0" "" "" "" "patient 7" "00227894" "" "" "" "1" "" "00006" "{PMID:Philibert 2010:20302644}" "" "rF" "" "France" "" "0" "" "" "" "patient 5" "00227895" "" "" "" "1" "" "00006" "{PMID:Philibert 2010:20302644}" "" "rF" "" "France" "" "0" "" "" "" "patient 6" "00227896" "" "" "" "1" "" "00006" "{PMID:Li 2011:20350242}" "" "" "" "" "" "0" "" "" "" "patient" "00227897" "" "" "" "1" "" "00006" "{PMID:Warman 2011:20861607}" "" "" "" "" "" "0" "" "" "" "patient" "00227898" "" "" "" "1" "" "00006" "{PMID:Warman 2011:20861607}" "" "" "" "" "" "0" "" "" "" "patient" "00227899" "" "" "" "1" "" "00006" "{PMID:Warman 2011:20861607}" "" "" "" "" "" "0" "" "" "" "patient" "00227900" "" "" "" "1" "" "00006" "{PMID:Bashamboo 2010:20887963}" "" "" "" "" "" "0" "" "" "" "patient" "00227901" "" "" "" "1" "" "00006" "{PMID:Bashamboo 2010:20887963}" "" "" "" "" "" "0" "" "" "" "patient" "00227902" "" "" "" "1" "" "00006" "{PMID:Bashamboo 2010:20887963}" "" "" "" "" "" "0" "" "" "" "patient" "00227903" "" "" "" "1" "" "00006" "{PMID:Bashamboo 2010:20887963}" "" "" "" "" "" "0" "" "" "" "patient" "00227904" "" "" "" "1" "" "00006" "{PMID:Philibert 2011:21163476}" "unaffected heterozygous mosaic father" "rM" "" "France" "" "0" "" "" "" "patient" "00227905" "" "" "" "1" "" "00006" "{PMID:Paliwal 2011:21242195}" "" "" "" "" "" "0" "" "" "" "patient" "00227906" "" "" "" "1" "" "00006" "{PMID:Philibert 2011:21691958}" "" "" "" "" "" "0" "" "" "" "patient" "00227907" "" "" "" "1" "" "00006" "{PMID:Philibert 2011:21691958}" "" "" "" "" "" "0" "" "" "" "patient" "00227908" "" "" "" "1" "" "00006" "{PMID:Philibert 2011:21691958}" "" "" "" "" "" "0" "" "" "" "patient" "00227909" "" "" "" "1" "" "00006" "{PMID:Philibert 2011:21691958}" "" "" "" "" "" "0" "" "" "" "patient" "00227910" "" "" "" "1" "" "00006" "{PMID:Philibert 2011:21691958}" "" "" "" "" "" "0" "" "" "" "patient" "00227911" "" "" "" "1" "" "00006" "{PMID:Philibert 2011:21691958}" "" "" "" "" "" "0" "" "" "" "patient" "00227912" "" "" "" "1" "" "00006" "{PMID:Philibert 2011:21691958}" "" "" "" "" "" "0" "" "" "" "patient" "00227913" "" "" "" "1" "" "00006" "{PMID:Philibert 2011:21691958}" "" "" "" "" "" "0" "" "" "" "patient" "00227914" "" "" "" "1" "" "00006" "{PMID:Philibert 2011:21691958}" "" "" "" "" "" "0" "" "" "" "patient" "00227915" "" "" "" "1" "" "00006" "{PMID:Philibert 2011:21691958}" "" "" "" "" "" "0" "" "" "" "patient" "00227916" "" "" "" "1" "" "00006" "{PMID:Sinha 2011:21691975}" "" "" "" "" "" "0" "" "" "" "patient" "00227917" "" "" "" "1" "" "00006" "{PMID:Allali 2011:22028768}" "" "rM" "" "France" "" "0" "" "" "" "patient 5" "00227918" "" "" "" "1" "" "00006" "{PMID:Allali 2011:22028768}" "heterozygous apparently healthy mother" "rM" "" "France" "" "0" "" "" "" "patient 1" "00227919" "" "" "" "1" "" "00006" "{PMID:Allali 2011:22028768}" "" "rM" "" "France" "" "0" "" "" "" "patient 4" "00227920" "" "" "00227865" "3" "" "00006" "{PMID:Achermann 2002:11932325}" "parents/sister" "F;M" "" "United States" "" "0" "" "" "" "parents/sister" "00227923" "" "" "" "1" "" "00006" "{PMID:Allali 2011:22028768}" "" "rF" "" "France" "" "0" "" "" "" "patient 2" "00227924" "" "" "" "1" "" "00006" "{PMID:Allali 2011:22028768}" "" "rM" "" "France" "" "0" "" "" "" "patient 3" "00230585" "" "" "" "1" "" "03225" "Fabbri-Scallet, submitted 2019" "46,XY DSD" "" "" "Brazil" "" "0" "" "" "" "" "00230586" "" "" "" "1" "" "03225" "Fabbri-Scallet, submitted 2019" "46,XY DSD" "" "" "Brazil" "" "0" "" "" "" "" "00230587" "" "" "" "1" "" "03225" "Fabbri-Scallet, submitted 2019" "46,XY DSD" "" "" "Brazil" "" "0" "" "" "" "" "00230588" "" "" "" "1" "" "03225" "Fabbri-Scallet, submitted 2019" "46,XY DSD" "" "" "Brazil" "" "0" "" "" "" "" "00230589" "" "" "" "1" "" "03225" "Fabbri-Scallet, submitted 2019" "46,XY DSD" "" "" "Brazil" "" "0" "" "" "" "" "00231415" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat3" "00231419" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat12" "00231438" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat48" "00231452" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat71" "00231454" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat74" "00231459" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat79" "00231462" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat83" "00231477" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat120" "00231486" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat144" "00231487" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat146" "00231509" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat197" "00231510" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat198" "00231511" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat199" "00231512" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat201" "00231535" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat262" "00231551" "" "" "" "2" "" "00006" "{PMID:Eggers 2016:27899157}" "2-generation family, affected father/son, son" "M" "" "" "" "0" "" "" "" "Pat112" "00231552" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat125" "00231553" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat137" "00231556" "" "" "00231551" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "father" "M" "" "" "" "0" "" "" "" "Pat223" "00246900" "" "" "" "1" "" "03225" "" "46,XY DSD" "" "" "Brazil" "" "0" "" "" "" "" "00260853" "" "" "" "1" "" "00006" "{PMID:Lachke 2011:21436445}" "" "rM" "" "United States" "" "0" "" "" "" "DGAP186" "00334623" "" "" "" "5" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00397492" "" "" "" "1" "" "01468" "{PMID:Giannakopoulos 2022:35277652}" "" "F" "no" "Greece" "" "0" "" "" "" "patient" "00419663" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9023" "00440380" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2574.1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 102 "{{individualid}}" "{{diseaseid}}" "00132768" "05340" "00132769" "05340" "00165039" "03221" "00165040" "03221" "00226682" "03221" "00227771" "03221" "00227772" "03221" "00227773" "03221" "00227774" "03221" "00227818" "03221" "00227861" "03221" "00227862" "03221" "00227863" "05340" "00227864" "00198" "00227865" "05340" "00227866" "00198" "00227867" "05340" "00227868" "05340" "00227869" "05340" "00227870" "05340" "00227871" "05340" "00227872" "05340" "00227873" "05340" "00227874" "05340" "00227875" "00198" "00227876" "05340" "00227877" "05340" "00227878" "05340" "00227879" "05340" "00227880" "05340" "00227881" "00198" "00227882" "00198" "00227883" "00198" "00227884" "00198" "00227885" "00198" "00227886" "00198" "00227887" "05340" "00227888" "00198" "00227889" "00198" "00227890" "00198" "00227891" "00198" "00227892" "00198" "00227893" "00198" "00227894" "00198" "00227895" "00198" "00227896" "00198" "00227897" "00198" "00227898" "05340" "00227899" "05340" "00227900" "05562" "00227901" "05562" "00227902" "05562" "00227903" "05562" "00227904" "00198" "00227905" "00198" "00227906" "05340" "00227907" "00198" "00227908" "05340" "00227909" "05340" "00227910" "00198" "00227911" "05340" "00227912" "00198" "00227913" "00198" "00227914" "05340" "00227915" "05340" "00227916" "05340" "00227917" "05340" "00227918" "05340" "00227919" "05340" "00227920" "00000" "00227923" "00198" "00227924" "00198" "00230585" "03221" "00230586" "03221" "00230587" "03221" "00230588" "03221" "00230589" "03221" "00231415" "05597" "00231419" "05597" "00231438" "05597" "00231452" "05597" "00231454" "05597" "00231459" "05597" "00231462" "05597" "00231477" "05597" "00231486" "05597" "00231487" "05597" "00231509" "05597" "00231510" "05597" "00231511" "05597" "00231512" "05597" "00231535" "05597" "00231551" "05597" "00231552" "05597" "00231553" "05597" "00231556" "05597" "00246900" "03221" "00260853" "00198" "00334623" "04214" "00397492" "01193" "00419663" "00198" "00440380" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01193, 03220, 03221, 03496, 04214, 05340, 05562, 05584, 05597 ## Count = 100 "{{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}}" "0000105538" "05340" "00132768" "02297" "Unknown" "" "sex reversal, NR5A1-related; ambiguous external genitalia" "0d" "5y" "ambiguous external genitalia" "" "" "" "" "" "" "" "" "0000105539" "05340" "00132769" "02298" "Familial, autosomal dominant" "" "ambiguous genitalia and gynaecomastia, severe penoscrotal hypospadias, bifid scrotum, micro penis, small bilateral testis (2-3 ml) and primary infertility" "" "" "" "" "" "" "" "" "" "" "" "0000171793" "03221" "00226682" "03225" "Unknown" "" "urethral opening penoscrotal, gonadal location (L/R) labioscrotal folds, low basal testosterone, partial testosterone response to hCG testing, dysgenetic testes bilaterally" "00y04m" "" "" "" "" "" "" "" "" "46,XY DSD" "" "0000171794" "03221" "00227771" "03225" "Unknown" "" "1.5 cm phallus, both gonads palpable in the inguinal channel, no Müllerian derivatives." "" "" "" "" "" "" "" "" "" "" "" "0000171795" "03221" "00227772" "03225" "Unknown" "" "5.5 cm phallus with chordee, penoscrotal urethral opening, right gonad palpable in inguinal channel and left gonad palpable in labioscrotal fold. No Müllerian derivatives." "" "" "" "" "" "" "" "" "46,XY partial gonadal dysgenesis" "" "" "0000171796" "03221" "00227773" "03225" "Unknown" "" "3.5 cm phallus with chordee, perineal urethral opening and both gonads palpable in labioscrotal folds. Male internal genitalia, with no uterus. Dysgenetic testis bilaterally." "" "" "" "" "" "" "" "" "46,XY partial gonadal dysgenesis" "" "" "0000171797" "03221" "00227774" "03225" "Unknown" "" "2-cm phallus, single perineal opening, palpable gonads in the labioscrotal folds. Laboratory data indicated high levels of FSH but normal levels of LH, and a normal testosterone response to hCG test. Absence of mullerian derivatives." "" "" "" "" "" "" "" "" "" "" "" "0000171840" "03221" "00227818" "03225" "Unknown" "" "2.5 cm phallus with chordee, single penoscrotal urethral opening, bilaterally palpable gonads in the inguinal region. Streak gonad showing fibrous tissue without gonadal elements only on the right side and a dysgenetic testis on the left side." "" "" "" "" "" "" "" "" "46,XY partial gonadal dysgenesis" "" "" "0000171863" "03221" "00227861" "03225" "Unknown" "" "2.3 cm phallus with chordee and 2 urethral orifices, both gonads palpable on inguinal channel, no Müllerian derivatives. Dysgenetic testis." "" "" "" "" "" "" "" "" "46,XY partial gonadal dysgenesis" "" "" "0000171864" "03221" "00227862" "03225" "Unknown" "" "1 cm phallus with chordee and a penoscrotal urethral opening, gonads were not palpable, no Müllerian derivatives. Dysgenetic testis." "" "" "" "" "" "" "" "" "46,XY partial gonadal dysgenesis" "" "" "0000171865" "03221" "00165039" "00006" "Unknown" "" "see paper; ..., normal adrenal phenotype, male external genitalia, absent Müllerian cells, normal testis" "" "" "" "" "" "" "" "" "" "mild oligozoospermia" "" "0000171866" "03221" "00165040" "00006" "Unknown" "16y" "see paper; ..., complete gonadal dysgenesis, female external genitalia, normal adrenal phenotype, Müllerian cells present, streak gonads (no evidence of tubules)" "" "" "" "" "" "" "" "" "SRXY-3" "severe 46,XY sex reversal, complete gonadal dysgenesis" "" "0000171867" "05340" "00227898" "00006" "Unknown" "" "see paper; …, 46,XY disorder of sex development" "" "" "" "" "" "" "" "" "SRXY-3" "46,XY sex reversal" "" "0000171868" "05340" "00227899" "00006" "Unknown" "" "see paper; …, 46,XY disorder of sex development" "" "" "" "" "" "" "" "" "SRXY-3" "46,XY sex reversal" "" "0000171869" "05340" "00227906" "00006" "Unknown" "" "see paper; …, 46,XY disorder of sex development" "" "" "" "" "" "" "" "" "SRXY-3" "46,XY sex reversal" "" "0000171870" "05340" "00227908" "00006" "Unknown" "" "see paper; …, 46,XY disorder of sex development" "" "" "" "" "" "" "" "" "SRXY-3" "46,XY sex reversal" "" "0000171871" "05340" "00227911" "00006" "Unknown" "" "see paper; …, 46,XY disorder of sex development" "" "" "" "" "" "" "" "" "SRXY-3" "46,XY sex reversal" "" "0000171872" "05340" "00227914" "00006" "Unknown" "" "see paper; …, 46,XY disorder of sex development" "" "" "" "" "" "" "" "" "SRXY-3" "46,XY sex reversal" "" "0000171873" "05340" "00227915" "00006" "Unknown" "" "see paper; …, 46,XY disorder of sex development" "" "" "" "" "" "" "" "" "SRXY-3" "46,XY sex reversal" "" "0000171874" "05340" "00227917" "00006" "Isolated (sporadic)" "00y00m05d" "see paper; …, 46,XY disorder of sex development, meatus glandular; genitalia hypospadias, phallus 33×15 mm, testes 18 mm in scrotum" "" "" "" "" "" "" "" "" "SRXY-3" "46,XY sex reversal" "" "0000171875" "05340" "00227918" "00006" "Unknown" "" "see paper; …, 46,XY disorder of sex development, meatus penoscrota; genitalia ambiguous phallus 20×10 mm, testis 17 mm, right in scrotum, left inguinal; genitography: vaginal rest 20 mm" "" "" "" "" "" "" "" "" "SRXY-3" "46,XY sex reversal" "" "0000171876" "05340" "00227919" "00006" "Unknown" "00y00m01d" "see paper; …, 46,XY disorder of sex development, meatus penoscrotal; genitalia ambiguous, Prader III, phallus 17×7 mm, gonads 18 mm in scrotum" "" "" "" "" "" "" "" "" "SRXY-3" "46,XY sex reversal" "" "0000171877" "00198" "00227866" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "adrenal disease, association with" "" "0000171878" "00198" "00227864" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "adrenocortical insuffuciency without ovarian defect" "" "0000171879" "00198" "00227881" "00006" "Familial" "" "see paper; …,micropenis, testicular regression" "" "" "" "" "" "" "" "" "" "bilateral anorchia" "" "0000171880" "00198" "00227897" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "low ovarian reserve" "" "0000171881" "00198" "00227907" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "micropenis" "" "0000171882" "00198" "00227882" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "ovarian insufficiency" "" "0000171883" "00198" "00227883" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "ovarian insufficiency" "" "0000171884" "00198" "00227884" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "ovarian insufficiency" "" "0000171885" "00198" "00227885" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "ovarian insufficiency" "" "0000171886" "00198" "00227886" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "ovarian insufficiency" "" "0000171887" "00198" "00227891" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "primary amenorrhea" "" "0000171888" "00198" "00227892" "00006" "Unknown" "" "see paper; …, amenorrhea, clitoromegaly,g onads in labia" "" "" "" "" "" "" "" "" "" "primary amenorrhea" "" "0000171889" "00198" "00227893" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "primary amenorrhea" "" "0000171890" "00198" "00227894" "00006" "Unknown" "" "see paper; …, amenorrhea, clitoromegaly, testicular tissue/inguinal region" "" "" "" "" "" "" "" "" "" "primary amenorrhea" "" "0000171891" "00198" "00227895" "00006" "Unknown" "" "see paper; …, amenorrhea, clitoromegaly, virilization" "" "" "" "" "" "" "" "" "" "primary amenorrhea" "" "0000171892" "00198" "00227910" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "primary amenorrhea" "" "0000171893" "00198" "00227913" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "primary amenorrhea" "" "0000171894" "00198" "00227896" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "primary amenorrhea, poor secondary sexual development" "" "0000171895" "05562" "00227900" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "SPGF-8" "spermatogenic failure" "" "0000171896" "05562" "00227901" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "SPGF-8" "spermatogenic failure" "" "0000171897" "05562" "00227902" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "SPGF-8" "spermatogenic failure" "" "0000171898" "05562" "00227903" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "SPGF-8" "spermatogenic failure" "" "0000171899" "00198" "00227912" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "vanishing testis" "" "0000171900" "00198" "00227875" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "XY gonadal dysgenesis" "" "0000171901" "00198" "00227888" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "XY gonadal dysgenesis" "" "0000171902" "00198" "00227889" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "XY gonadal dysgenesis" "" "0000171903" "00198" "00227890" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "XY gonadal dysgenesis" "" "0000171904" "00198" "00227904" "00006" "Unknown" "" "see paper; …, hypospadias, micropenis, puberty developed spontaneously\r\nwith a rise in T levels/normal LH contrasting with high FSH and low inhibin B concentrations, revealing a Sertoli\r\ncell defect" "" "" "" "" "" "" "" "" "" "XY gonadal dysgenesis" "" "0000171905" "00198" "00227905" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "XY gonadal dysgenesis?" "" "0000171906" "05340" "00227909" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "XY sex reversal" "" "0000171907" "05340" "00227916" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "XY sex reversal" "" "0000171908" "05340" "00227863" "00006" "Isolated (sporadic)" "10y" "see paper; …, primary adrenal failure, complete gonadal dysgenesis, T-deficiency, female external genitalia, Müllerian cells, streak gonads (poorly differentiated tubules)" "" "" "" "" "" "" "" "" "SRXY-3" "adrenal failure, complete gonadal dysgenesis" "" "0000171909" "05340" "00227865" "00006" "Familial" "" "see paper; …, adrenal failure, female external genitalia, Müllerian cells" "" "" "" "" "" "" "" "" "SRXY-3" "XY sex reversal, with adrenal failure" "" "0000171910" "05340" "00227867" "00006" "Isolated (sporadic)" "31y" "see paper; …, no adrenal failure, ambiguous external genitalia, regressed testicular dysgenesis, no Müllerian structures" "" "" "" "" "" "" "" "" "" "XY sex reversal, without adrenal failure" "" "0000171911" "05340" "00227868" "00006" "Isolated (sporadic)" "" "see paper; …, gonadal dysgenesis, normal adrenal function, low basal levels of AMH/testosterone (T), weak T response to hCG, hypoplastic testes with abundant seminiferous tubules, rare germ cells" "" "" "" "" "" "" "" "" "SRXY-3" "46,XY sex reversal" "" "0000171912" "05340" "00227869" "00006" "Isolated (sporadic)" "" "see paper; …, no adrenal failure, ambiguous external genitalia, mild testicular dysgenesis, no Müllerian cells" "" "" "" "" "" "" "" "" "" "XY sex reversal, without adrenal failure" "" "0000171913" "05340" "00227870" "00006" "Unknown" "" "see paper; …, no adrenal failure, phenotype female, inguinal gonad position, remnant Müllerian structures; histology testis, germ cells" "" "" "" "" "" "" "" "" "" "XY sex reversal, without adrenal failure" "" "0000171914" "05340" "00227871" "00006" "Isolated (sporadic)" "" "see paper; …, phenotype female, labial rugosity, labial gonad position, absent Müllerian structures; histology testis, germ cells" "" "" "" "" "" "" "" "" "" "XY sex reversal, without adrenal failure" "" "0000171915" "05340" "00227872" "00006" "Unknown" "06y" "see paper; …, small phallus, penoscrotal hypospadias, high scrotal gonad position, absent Müllerian structures, partial hypogonadotropic hypogonadism; histology hyalinized testis, few germ cells" "" "" "" "" "" "" "" "" "" "XY sex reversal, without adrenal failure" "" "0000171916" "05340" "00227873" "00006" "Unknown" "" "see paper; …, clitoral enlargement, labioscrotal folds, labioscrotal gonad position, remnant Müllerian structures; histology testis, germ cells" "" "" "" "" "" "" "" "" "" "XY sex reversal, without adrenal failure" "" "0000171917" "05340" "00227874" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "XY sex reversal, without adrenal failure" "" "0000171918" "05340" "00227876" "00006" "Unknown" "17y" "see paper; …, clitoromegaly, urogenital sinus, inguinal gonads, no uterus, epididymis, vas deferens; gonadal histology bilateral testes" "" "" "" "" "" "" "" "" "" "XY sex reversal, without adrenal failure" "" "0000171919" "05340" "00227877" "00006" "Unknown" "" "see paper; …, clitoromegaly, urogenital sinuss, inguinal gonads, no uterus, epididymis and vas deferens; gonadal histology bilateral testes, Sertoli cells only" "" "" "" "" "" "" "" "" "" "XY sex reversal, without adrenal failure" "" "0000171920" "05340" "00227878" "00006" "Isolated (sporadic)" "04y" "see paper; …, clitoromegaly, urogenital sinus, inguinal gonads, no uterus, epididymis, vas deferens; gonadal histology bilateral testes, Sertoli rich, few spermatogonia and Leydig cells" "" "" "" "" "" "" "" "" "" "XY sex reversal, without adrenal failure" "" "0000171921" "05340" "00227879" "00006" "Unknown" "" "see paper; …, no adrenal failure, normal female genitalia, no aplpable gonads, uterus, Müllerian cells; gonadal histology bilateral streak gonads" "" "" "" "" "" "" "" "" "" "XY sex reversal, without adrenal failure" "" "0000171922" "05340" "00227880" "00006" "Familial" "08y" "see paper; …, clitoromegaly urogenital sinus, inguinal gonads, no uterus, epididymis, vas deferens; gonadal histology bilateral testes" "" "" "" "" "" "" "" "" "" "XY sex reversal, without adrenal failure" "" "0000171923" "05340" "00227887" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "XY sex reversal, without adrenal failure" "" "0000171924" "00198" "00227923" "00006" "Unknown" "06y" "see paper; ..., meatus penoscrotal; genitalia ambiguous, Prader III, phallus 20 mm, testis 20 mm in labia, surgery: vaginal rest 15 mm" "" "" "" "" "" "" "" "" "" "" "" "0000171925" "00198" "00227924" "00006" "Unknown" "00y00m01d" "see paper; ..., meatus ppenoscrotal; genitalia ambiguous, Prader III, phallus 15×10 mm, testes in scrotum" "" "" "" "" "" "" "" "" "" "" "" "0000173066" "03221" "00230585" "03225" "Unknown" "" "Urethral penoscrotal opening, palpable gonads in the labioscrotal folds. Absence of mullerian derivatives." "" "" "" "" "" "" "" "" "46,XY partial gonadal dysgenesis" "" "" "0000173067" "03221" "00230586" "03225" "Unknown" "" "Perineal urethral opening, predominantly female external genitalia, no palpable gonads. Presence of uterus. Dysgenetic testis." "" "" "" "" "" "" "" "" "46,XY partial gonadal dysgenesis" "" "" "0000173068" "03221" "00230587" "03225" "Unknown" "" "single penoscrotal urethral opening, palpable gonads, normal testosterone production" "" "" "" "" "" "" "" "" "" "" "" "0000173069" "03221" "00230588" "03225" "Unknown" "" "Primary amenorrhea and absence of secondary female sex characteristics. 3-cm phallus, female urethra and a vaginal opening, no gonads were palpable. Mullerian derivatives absent. Dysgenetic testis." "" "" "" "" "" "" "" "" "46,XY partial gonadal dysgenesis" "" "" "0000173070" "03221" "00230589" "03225" "Unknown" "" "single perineal opening, palpable gonads in the labioscrotal folds. Absence of mullerian derivatives. Dysgenetic testis." "" "" "" "" "" "" "" "" "46,XY partial gonadal dysgenesis" "" "" "0000173806" "05597" "00231415" "00006" "Unknown" "" "complete gonadal dysgenesis" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173810" "05597" "00231419" "00006" "Unknown" "" "complete gonadal dysgenesis" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173829" "05597" "00231438" "00006" "Unknown" "" "disorders of androgen synthesis or action" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173843" "05597" "00231452" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173845" "05597" "00231454" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173850" "05597" "00231459" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173853" "05597" "00231462" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173868" "05597" "00231477" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173877" "05597" "00231486" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173878" "05597" "00231487" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173900" "05597" "00231509" "00006" "Unknown" "" "partial gonadal dysgenesis" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173901" "05597" "00231510" "00006" "Unknown" "" "partial gonadal dysgenesis" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173902" "05597" "00231511" "00006" "Unknown" "" "partial gonadal dysgenesis" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173903" "05597" "00231512" "00006" "Unknown" "" "partial gonadal dysgenesis" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173926" "05597" "00231535" "00006" "Unknown" "" "Leydig cell hypoplasia" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173942" "05597" "00231551" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173943" "05597" "00231552" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173944" "05597" "00231553" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173947" "05597" "00231556" "00006" "Unknown" "" "hypospadias" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000186688" "03221" "00246900" "03225" "Unknown" "" "urethral opening penoscrotal, gonadal location (L/R) in labioscrotal folds, dysgenetic testes bilaterally" "" "" "" "" "" "" "" "" "Partial GD" "" "" "0000199385" "00198" "00260853" "00006" "Unknown" "" "see paper; ..., at birth severe hypospadias, absence of testes in bifid scrotal sac; later testes descended, hypospadias treated with testosterone injection combined with surgery; 2y-left leukocoria, bilateral, progressive cataracts" "" "" "" "" "" "" "" "" "" "hypospadias, cataract" "" "0000301256" "01193" "00397492" "01468" "Unknown" "16y" "see paper; ..., amenorrhea, short stature, bilateral blepharophimosis, ptosis eyelids, cubitus valgus; breast/pubic hair Tanner III stage without any signs of further pubertal progression" "" "" "" "" "" "" "" "" "" "amenorrhea, short stature" "" "0000310944" "00198" "00419663" "02300" "Isolated (sporadic)" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "0000330290" "00198" "00440380" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "46,XY sex reversal 3 (MIM #612965)" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 102 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000133603" "00132768" "1" "02297" "02297" "2013-07-17 11:05:11" "00006" "2013-07-21 19:12:30" "SEQ" "DNA" "" "" "0000133604" "00132769" "1" "02298" "02298" "2013-12-23 01:51:02" "00006" "2013-12-24 08:46:12" "SEQ-NG-I" "DNA" "" "" "0000165909" "00165039" "1" "02514" "02514" "2018-06-21 05:13:02" "" "" "SEQ" "DNA" "" "" "0000165910" "00165040" "1" "02514" "02514" "2018-06-21 05:25:22" "" "" "SEQ" "DNA" "" "" "0000227770" "00226682" "1" "03225" "03225" "2019-03-11 16:09:19" "" "" "SEQ" "DNA" "" "" "0000228860" "00227771" "1" "03225" "03225" "2019-03-12 13:59:41" "" "" "SEQ" "DNA" "" "" "0000228861" "00227772" "1" "03225" "03225" "2019-03-12 14:09:02" "" "" "SEQ" "DNA" "" "" "0000228862" "00227773" "1" "03225" "03225" "2019-03-12 14:16:03" "" "" "SEQ" "DNA" "" "" "0000228863" "00227774" "1" "03225" "03225" "2019-03-12 14:23:26" "" "" "SEQ" "DNA" "" "" "0000228907" "00227818" "1" "03225" "03225" "2019-03-12 19:07:05" "" "" "SEQ" "DNA" "" "" "0000228948" "00227861" "1" "03225" "03225" "2019-03-13 19:20:30" "" "" "SEQ" "DNA" "" "" "0000228949" "00227862" "1" "03225" "03225" "2019-03-13 19:30:51" "" "" "SEQ" "DNA" "" "" "0000228950" "00227898" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228951" "00227899" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228952" "00227906" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228953" "00227908" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228954" "00227911" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228955" "00227914" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228956" "00227915" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228957" "00227917" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228958" "00227918" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228959" "00227919" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228960" "00227866" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228961" "00227864" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228962" "00227881" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228963" "00227897" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228964" "00227907" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228965" "00227882" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228966" "00227883" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228967" "00227884" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228968" "00227885" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228969" "00227886" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228970" "00227891" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228971" "00227892" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228972" "00227893" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228973" "00227894" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228974" "00227895" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228975" "00227910" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228976" "00227913" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228977" "00227896" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228978" "00227900" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228979" "00227901" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228980" "00227902" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228981" "00227903" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228982" "00227912" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228983" "00227875" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228984" "00227888" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228985" "00227889" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228986" "00227890" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228987" "00227904" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228988" "00227905" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228989" "00227909" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228990" "00227916" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228991" "00227863" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228992" "00227865" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228993" "00227867" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228994" "00227868" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228995" "00227869" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228996" "00227870" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228997" "00227871" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228998" "00227872" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000228999" "00227873" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000229000" "00227874" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000229001" "00227876" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000229002" "00227877" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000229003" "00227878" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000229004" "00227879" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000229005" "00227880" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000229006" "00227887" "1" "00006" "00006" "2019-03-14 08:19:34" "" "" "SEQ" "DNA" "" "" "0000229007" "00227920" "1" "00006" "00006" "2019-03-14 08:37:36" "" "" "SEQ" "DNA" "" "" "0000229009" "00227923" "1" "00006" "00006" "2019-03-14 18:49:05" "" "" "SEQ" "DNA" "" "" "0000229010" "00227924" "1" "00006" "00006" "2019-03-14 18:52:19" "" "" "SEQ" "DNA" "" "" "0000231679" "00230585" "1" "03225" "03225" "2019-04-16 20:14:42" "" "" "SEQ" "DNA" "" "" "0000231680" "00230586" "1" "03225" "03225" "2019-04-16 20:45:37" "" "" "SEQ" "DNA" "" "" "0000231682" "00230587" "1" "03225" "03225" "2019-04-16 21:31:22" "" "" "SEQ" "DNA" "" "" "0000231683" "00230588" "1" "03225" "03225" "2019-04-16 21:39:00" "" "" "SEQ" "DNA" "" "" "0000231684" "00230589" "1" "03225" "03225" "2019-04-16 21:45:49" "" "" "SEQ" "DNA" "" "" "0000232514" "00231415" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232518" "00231419" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232537" "00231438" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232551" "00231452" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232553" "00231454" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232558" "00231459" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232561" "00231462" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232576" "00231477" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232585" "00231486" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232586" "00231487" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232608" "00231509" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232609" "00231510" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232610" "00231511" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232611" "00231512" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232634" "00231535" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232650" "00231551" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232651" "00231552" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232652" "00231553" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232655" "00231556" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000248008" "00246900" "1" "03225" "03225" "2019-07-16 21:27:11" "" "" "SEQ" "DNA" "" "" "0000261957" "00260853" "1" "00006" "00006" "2019-08-09 09:02:30" "" "" "FISH;microscope" "DNA" "" "" "0000335852" "00334623" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000398732" "00397492" "1" "01468" "01468" "2021-12-22 13:49:10" "00006" "2022-05-03 19:00:04" "SEQ-NG;SEQ-NG-I" "DNA" "BLOOD" "clinical WES, confirmed by Sanger sequencing" "0000420967" "00419663" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000441865" "00440380" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 102 "{{screeningid}}" "{{geneid}}" "0000133603" "NR5A1" "0000133604" "NR5A1" "0000165909" "NR5A1" "0000165910" "NR5A1" "0000227770" "NR5A1" "0000228860" "NR5A1" "0000228862" "NR5A1" "0000228863" "NR5A1" "0000228907" "NR5A1" "0000228948" "NR5A1" "0000228949" "NR5A1" "0000228950" "NR5A1" "0000228951" "NR5A1" "0000228952" "NR5A1" "0000228953" "NR5A1" "0000228954" "NR5A1" "0000228955" "NR5A1" "0000228956" "NR5A1" "0000228957" "NR5A1" "0000228958" "NR5A1" "0000228959" "NR5A1" "0000228960" "NR5A1" "0000228961" "NR5A1" "0000228962" "NR5A1" "0000228963" "NR5A1" "0000228964" "NR5A1" "0000228965" "NR5A1" "0000228966" "NR5A1" "0000228967" "NR5A1" "0000228968" "NR5A1" "0000228969" "NR5A1" "0000228970" "NR5A1" "0000228971" "NR5A1" "0000228972" "NR5A1" "0000228973" "NR5A1" "0000228974" "NR5A1" "0000228975" "NR5A1" "0000228976" "NR5A1" "0000228977" "NR5A1" "0000228978" "NR5A1" "0000228979" "NR5A1" "0000228980" "NR5A1" "0000228981" "NR5A1" "0000228982" "NR5A1" "0000228983" "NR5A1" "0000228984" "NR5A1" "0000228985" "NR5A1" "0000228986" "NR5A1" "0000228987" "NR5A1" "0000228988" "NR5A1" "0000228989" "NR5A1" "0000228990" "NR5A1" "0000228991" "NR5A1" "0000228992" "NR5A1" "0000228993" "NR5A1" "0000228994" "NR5A1" "0000228995" "NR5A1" "0000228996" "NR5A1" "0000228997" "NR5A1" "0000228998" "NR5A1" "0000228999" "NR5A1" "0000229000" "NR5A1" "0000229001" "NR5A1" "0000229002" "NR5A1" "0000229003" "NR5A1" "0000229004" "NR5A1" "0000229005" "NR5A1" "0000229006" "NR5A1" "0000229007" "NR5A1" "0000229009" "NR5A1" "0000229010" "NR5A1" "0000231679" "NR5A1" "0000231680" "NR5A1" "0000231682" "NR5A1" "0000231683" "NR5A1" "0000231684" "NR5A1" "0000232514" "NR5A1" "0000232518" "NR5A1" "0000232537" "NR5A1" "0000232551" "NR5A1" "0000232553" "NR5A1" "0000232558" "NR5A1" "0000232561" "NR5A1" "0000232576" "NR5A1" "0000232585" "NR5A1" "0000232586" "NR5A1" "0000232608" "NR5A1" "0000232609" "NR5A1" "0000232610" "NR5A1" "0000232611" "NR5A1" "0000232634" "NR5A1" "0000232650" "NR5A1" "0000232651" "AR" "0000232651" "FGFR2" "0000232651" "NR5A1" "0000232652" "NR5A1" "0000232652" "ZFPM2" "0000232655" "NR5A1" "0000248008" "NR5A1" "0000261957" "NR5A1" "0000261957" "TDRD7" "0000398732" "NR5A1" ## 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 = 144 "{{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}}" "0000222844" "1" "90" "9" "127262460" "127262460" "subst" "4.13012E-6" "02297" "NR5A1_000002" "g.127262460G>A" "" "" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.124500181G>A" "" "pathogenic" "" "0000222845" "21" "90" "9" "127253382" "127253384" "del" "0" "02298" "NR5A1_000003" "g.127253382_127253384del" "" "" "" "" "46,XY DSD" "Germline" "" "" "0" "" "" "g.124491103_124491105del" "" "pathogenic" "" "0000251435" "0" "10" "9" "127244998" "127244998" "subst" "0" "02326" "NR5A1_000006" "g.127244998A>C" "" "" "" "NR5A1(NM_004959.5):c.*39T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124482719A>C" "" "benign" "" "0000255524" "0" "90" "9" "127262445" "127262445" "del" "0" "01943" "NR5A1_000010" "g.127262445del" "" "" "" "NR5A1(NM_004959.4):c.794delT (p.L265Rfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124500166del" "" "pathogenic" "" "0000296613" "0" "10" "9" "127255448" "127255448" "subst" "0.491235" "02325" "NR5A1_000009" "g.127255448G>A" "" "" "" "NR5A1(NM_004959.4):c.871-20C>T, NR5A1(NM_004959.5):c.871-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124493169G>A" "" "benign" "" "0000300420" "0" "10" "9" "127244955" "127244955" "subst" "0" "02326" "NR5A1_000005" "g.127244955G>A" "" "" "" "NR5A1(NM_004959.5):c.*82C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124482676G>A" "" "benign" "" "0000300421" "0" "50" "9" "127265462" "127265462" "subst" "0" "02326" "NR5A1_000019" "g.127265462T>C" "" "" "" "NR5A1(NM_004959.5):c.140A>G (p.Y47C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124503183T>C" "" "VUS" "" "0000300422" "0" "50" "9" "127262832" "127262832" "subst" "5.08195E-5" "02326" "NR5A1_000014" "g.127262832G>A" "" "" "" "NR5A1(NM_004959.5):c.407C>T (p.P136L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124500553G>A" "" "VUS" "" "0000300423" "0" "50" "9" "127262665" "127262665" "subst" "0" "02326" "NR5A1_000012" "g.127262665C>A" "" "" "" "NR5A1(NM_004959.5):c.574G>T (p.A192S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124500386C>A" "" "VUS" "" "0000300424" "0" "50" "9" "127262605" "127262605" "subst" "0.000124814" "02326" "NR5A1_000011" "g.127262605C>T" "" "" "" "NR5A1(NM_004959.5):c.634G>A (p.G212S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124500326C>T" "" "VUS" "" "0000300425" "0" "50" "9" "127255362" "127255362" "subst" "0" "02326" "NR5A1_000008" "g.127255362G>A" "" "" "" "NR5A1(NM_004959.5):c.937C>T (p.R313C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124493083G>A" "" "VUS" "" "0000304525" "0" "50" "9" "127269524" "127269527" "del" "0" "01943" "NR5A1_000020" "g.127269524_127269527del" "" "" "" "NR5A1(NM_004959.4):c.-16+3_-16+6delAAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124507245_124507248del" "" "VUS" "" "0000304526" "0" "10" "9" "127244864" "127244865" "del" "0" "01943" "NR5A1_000004" "g.127244864_127244865del" "" "" "" "NR5A1(NM_004959.4):c.*172_*173delGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124482585_124482586del" "" "benign" "" "0000304527" "0" "90" "9" "127253391" "127253394" "del" "0" "01943" "NR5A1_000007" "g.127253391_127253394del" "" "" "" "NR5A1(NM_004959.4):c.1106_1109delTCTG (p.V369Afs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124491112_124491115del" "" "pathogenic" "" "0000304528" "0" "90" "9" "127265422" "127265423" "del" "0" "01943" "NR5A1_000018" "g.127265422_127265423del" "" "" "" "NR5A1(NM_004959.4):c.180_181delGC (p.Q61Afs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124503143_124503144del" "" "pathogenic" "" "0000304529" "0" "90" "9" "127265392" "127265392" "del" "0" "01943" "NR5A1_000017" "g.127265392del" "" "" "" "NR5A1(NM_004959.4):c.211delC (p.Q71Rfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124503113del" "" "pathogenic" "" "0000304530" "0" "50" "9" "127262992" "127262992" "subst" "0" "01943" "NR5A1_000016" "g.127262992C>T" "" "" "" "NR5A1(NM_004959.4):c.247G>A (p.V83M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124500713C>T" "" "VUS" "" "0000304531" "0" "10" "9" "127262864" "127262864" "subst" "0.0214816" "01943" "NR5A1_000015" "g.127262864C>T" "" "" "" "NR5A1(NM_004959.4):c.375G>A (p.P125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124500585C>T" "" "benign" "" "0000304532" "0" "10" "9" "127262802" "127262802" "subst" "0.10006" "01943" "NR5A1_000013" "g.127262802C>G" "" "" "" "NR5A1(NM_004959.4):c.437G>C (p.G146A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124500523C>G" "" "benign" "" "0000304533" "0" "10" "9" "127255448" "127255448" "subst" "0.491235" "01943" "NR5A1_000009" "g.127255448G>A" "" "" "" "NR5A1(NM_004959.4):c.871-20C>T, NR5A1(NM_004959.5):c.871-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124493169G>A" "" "benign" "" "0000337093" "0" "10" "9" "127255448" "127255448" "subst" "0.491235" "02327" "NR5A1_000009" "g.127255448G>A" "" "" "" "NR5A1(NM_004959.4):c.871-20C>T, NR5A1(NM_004959.5):c.871-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124493169G>A" "" "benign" "" "0000345733" "0" "10" "9" "127262802" "127262802" "subst" "0.10006" "02327" "NR5A1_000013" "g.127262802C>G" "" "" "" "NR5A1(NM_004959.4):c.437G>C (p.G146A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124500523C>G" "" "benign" "" "0000347006" "0" "70" "9" "127262562" "127262562" "subst" "0" "02327" "NR5A1_000021" "g.127262562A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124500283A>C" "" "likely pathogenic" "" "0000369707" "0" "90" "9" "127262746" "127262746" "subst" "0.000241485" "02514" "NR5A1_000023" "g.127262746C>G" "" "{PMID:Sreenivasan 2018:30067310}, {DOI:Sreenivasan 2018:10.1002/humu.23603}" "" "" "parents not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.124500467C>G" "" "pathogenic" "" "0000369708" "0" "90" "9" "127265652" "127265652" "subst" "0" "02514" "NR5A1_000024" "g.127265652T>C" "" "{PMID:Sreenivasan 2018:30067310}, {DOI:Sreenivasan 2018:10.1002/humu.23603}" "" "" "parents not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.124503373T>C" "" "pathogenic" "" "0000468032" "0" "90" "9" "127265580" "127265580" "subst" "0" "03225" "NR5A1_000025" "g.127265580C>T" "" "{PMID:Fabbri-Scallet 2017:29027717}" "" "" "" "Germline" "" "" "0" "" "" "g.124503301C>T" "" "pathogenic" "" "0000469121" "21" "90" "9" "127265487" "127265487" "subst" "0" "03225" "NR5A1_000031" "g.127265487G>A" "" "{PMID:Fabbri-Scallet 2017:29027717}" "" "" "" "Germline" "" "" "0" "" "" "g.124503208G>A" "" "pathogenic" "" "0000469122" "0" "90" "9" "127262498" "127262498" "subst" "0" "03225" "NR5A1_000032" "g.127262498G>T" "" "{PMID:Fabbri-Scallet 2017:29027717}" "" "" "" "Germline" "" "" "0" "" "" "g.124500219G>T" "" "pathogenic" "" "0000469123" "0" "90" "9" "127245237" "127245237" "del" "0" "03225" "NR5A1_000033" "g.127245237del" "" "{PMID:Fabbri-Scallet 2017:29027717}" "" "1187delA" "" "Germline" "" "" "0" "" "" "g.124482958del" "" "pathogenic" "" "0000469124" "21" "90" "9" "127265408" "127265408" "subst" "0" "03225" "NR5A1_000030" "g.127265408C>T" "" "{PMID:Fabbri 2014:24405868}" "" "195G > A (Cys65Tyr)" "" "Germline" "yes" "" "0" "" "" "g.124503129C>T" "" "pathogenic" "" "0000469170" "0" "90" "9" "127265490" "127265490" "subst" "0" "03225" "NR5A1_000028" "g.127265490T>A" "" "{PMID:Fabbri 2016:27463801}" "" "" "" "Germline" "" "" "0" "" "" "g.124503211T>A" "" "pathogenic" "" "0000469235" "0" "90" "9" "127265365" "127265365" "del" "0" "03225" "NR5A1_000026" "g.127265365del" "" "{PMID:Fabbri 2016:27463801}" "" "238delC" "" "Germline" "" "" "0" "" "" "g.124503086del" "" "likely pathogenic" "" "0000469236" "0" "70" "9" "127253359" "127253359" "subst" "0" "03225" "NR5A1_000027" "g.127253359C>A" "" "{PMID:Fabbri 2016:27463801}" "" "" "" "De novo" "" "" "0" "" "" "g.124491080C>A" "" "likely pathogenic" "" "0000469237" "1" "90" "9" "127262475" "127262475" "subst" "1.25299E-5" "00006" "NR5A1_000067" "g.127262475C>A" "" "{PMID:Biason-Lauber 2000:11038323}" "" "" "" "Germline" "" "" "0" "" "" "g.124500196C>A" "" "pathogenic" "" "0000469238" "21" "90" "9" "127253435" "127253435" "subst" "0.000124661" "00006" "NR5A1_000045" "g.127253435C>T" "" "{PMID:Philibert 2007:17940071}" "" "" "" "Germline" "" "" "0" "" "" "g.124491156C>T" "" "likely pathogenic" "" "0000469239" "1" "90" "9" "127255422" "127255422" "subst" "0" "00006" "NR5A1_000064" "g.127255422C>T" "" "{PMID:Lourenço 2009:19246354}" "" "" "" "Germline" "" "" "0" "" "" "g.124493143C>T" "" "pathogenic" "" "0000469240" "1" "70" "9" "127265486" "127265486" "subst" "0" "00006" "NR5A1_000038" "g.127265486C>G" "" "{PMID:Philibert 2010:20302644}" "" "" "" "Germline" "" "" "0" "" "" "g.124503207C>G" "" "likely pathogenic" "" "0000469241" "0" "70" "9" "127253360" "127253360" "subst" "0" "00006" "NR5A1_000042" "g.127253360C>A" "" "{PMID:Philibert 2010:20302644}" "" "" "" "Germline" "" "" "0" "" "" "g.124491081C>A" "" "likely pathogenic" "" "0000469242" "1" "90" "9" "127262668" "127262668" "subst" "0" "00006" "NR5A1_000072" "g.127262668G>A" "" "{PMID:Bashamboo 2010:20887963}" "" "" "" "Germline" "" "" "0" "" "" "g.124500389G>A" "" "pathogenic" "" "0000469243" "1" "90" "9" "127262989" "127262989" "subst" "0" "00006" "NR5A1_000079" "g.127262989G>A" "" "{PMID:Reuter 2007:17656604}" "" "" "" "Germline" "" "" "0" "" "" "g.124500710G>A" "" "pathogenic" "" "0000469244" "11" "90" "9" "127262397" "127262397" "subst" "0" "00006" "NR5A1_000036" "g.127262397C>G" "" "{PMID:Philibert 2011:21163476}" "" "" "" "Germline" "" "" "0" "father mosaic" "" "g.124500118C>G" "" "pathogenic (recessive)" "" "0000469245" "1" "90" "9" "127253416" "127253416" "subst" "0" "00006" "NR5A1_000061" "g.127253416A>G" "" "{PMID:Sinha 2011:21691975}" "" "" "" "Germline" "" "" "0" "" "" "g.124491137A>G" "" "pathogenic" "" "0000469246" "3" "90" "9" "127262964" "127262964" "subst" "0" "00006" "NR5A1_000035" "g.127262964C>T" "" "{PMID:Achermann 2002:11932325}" "" "" "" "Germline" "" "" "0" "" "" "g.124500685C>T" "" "pathogenic (recessive)" "" "0000469247" "21" "90" "9" "127265368" "127265368" "subst" "0" "00006" "NR5A1_000052" "g.127265368C>T" "" "{PMID:Lin 2007:17200175}" "" "" "inheritance dominant, sex-limited" "Germline" "" "" "0" "" "" "g.124503089C>T" "" "pathogenic (!)" "" "0000469248" "0" "90" "9" "127265632" "127265632" "subst" "0" "00006" "NR5A1_000051" "g.127265632C>T" "" "{PMID:Lin 2007:17200175}" "" "" "" "De novo" "" "" "0" "" "" "g.124503353C>T" "" "pathogenic (dominant)" "" "0000469249" "0" "90" "9" "127245113" "127245113" "subst" "0" "00006" "NR5A1_000054" "g.127245113A>T" "" "{PMID:Lin 2007:17200175}" "" "" "" "De novo" "" "" "0" "" "" "g.124482834A>T" "" "pathogenic (dominant)" "" "0000469250" "21" "90" "9" "127262968" "127262968" "subst" "0" "00006" "NR5A1_000053" "g.127262968C>T" "" "{PMID:Lin 2007:17200175}" "" "" "inheritance dominant, sex-limited" "Germline" "" "" "0" "" "" "g.124500689C>T" "" "pathogenic (!)" "" "0000469251" "0" "70" "9" "127262988" "127262988" "subst" "8.33181E-6" "00006" "NR5A1_000047" "g.127262988C>T" "" "{PMID:Kohler 2008:17694559}" "" "" "father not tested" "Germline/De novo (untested)" "" "" "0" "" "" "g.124500709C>T" "" "likely pathogenic" "" "0000469252" "0" "70" "9" "127265577" "127265577" "subst" "0" "00006" "NR5A1_000046" "g.127265577C>G" "" "{PMID:Kohler 2008:17694559}" "" "" "" "De novo" "" "" "0" "" "" "g.124503298C>G" "" "likely pathogenic" "" "0000469253" "1" "90" "9" "127265480" "127265480" "subst" "0" "00006" "NR5A1_000083" "g.127265480A>C" "" "{PMID:Tajima 2009:19318730}" "" "" "" "Germline" "" "" "0" "" "" "g.124503201A>C" "" "pathogenic" "" "0000469254" "1" "90" "9" "127265672" "127265672" "subst" "0" "00006" "NR5A1_000086" "g.127265672C>T" "" "{PMID:Lourenço 2009:19246354}" "" "" "" "Germline" "" "" "0" "" "" "g.124503393C>T" "" "pathogenic" "" "0000469255" "1" "70" "9" "127262403" "127262403" "subst" "0" "00006" "NR5A1_000066" "g.127262403C>T" "" "{PMID:Warman 2011:20861607}" "" "" "" "Germline" "" "" "0" "" "" "g.124500124C>T" "" "likely pathogenic" "" "0000469256" "1" "70" "9" "127265589" "127265589" "subst" "0" "00006" "NR5A1_000084" "g.127265589G>C" "" "{PMID:Philibert 2011:21691958}" "" "" "" "Germline" "" "" "0" "" "" "g.124503310G>C" "" "likely pathogenic" "" "0000469257" "1" "70" "9" "127245242" "127245242" "subst" "0" "00006" "NR5A1_000059" "g.127245242T>G" "" "{PMID:Philibert 2011:21691958}" "" "" "" "Germline" "" "" "0" "" "" "g.124482963T>G" "" "likely pathogenic" "" "0000469258" "1" "70" "9" "127262932" "127262932" "subst" "0" "00006" "NR5A1_000078" "g.127262932G>C" "" "{PMID:Philibert 2011:21691958}" "" "" "" "Germline" "" "" "0" "" "" "g.124500653G>C" "" "likely pathogenic" "" "0000469259" "1" "70" "9" "127245211" "127245211" "subst" "0" "00006" "NR5A1_000058" "g.127245211G>T" "" "{PMID:Philibert 2011:21691958}" "" "" "" "Germline" "" "" "0" "" "" "g.124482932G>T" "" "likely pathogenic" "" "0000469260" "1" "70" "9" "127265438" "127265438" "subst" "0" "00006" "NR5A1_000082" "g.127265438C>T" "" "{PMID:Philibert 2011:21691958}" "" "" "" "Germline" "" "" "0" "" "" "g.124503159C>T" "" "likely pathogenic" "" "0000469261" "1" "70" "9" "127255362" "127255362" "subst" "0" "00006" "NR5A1_000008" "g.127255362G>A" "" "{PMID:Allali 2011:22028768}" "" "" "" "De novo" "" "" "0" "" "" "g.124493083G>A" "" "pathogenic (recessive)" "" "0000469262" "21" "90" "9" "127262404" "127262404" "subst" "0" "00006" "NR5A1_000037" "g.127262404A>T" "" "{PMID:Allali 2011:22028768}" "" "" "" "Germline" "" "" "0" "" "" "g.124500125A>T" "" "pathogenic" "" "0000469263" "1" "70" "9" "127262690" "127262690" "subst" "0" "00006" "NR5A1_000073" "g.127262690G>T" "" "{PMID:Warman 2011:20861607}" "" "" "" "Germline" "" "" "0" "" "" "g.124500411G>T" "" "likely pathogenic" "" "0000469264" "1" "70" "9" "127265415" "127265415" "subst" "0" "00006" "NR5A1_000081" "g.127265415T>G" "" "{PMID:Philibert 2011:21691958}" "" "" "" "Germline" "" "" "0" "" "" "g.124503136T>G" "" "likely pathogenic" "" "0000469265" "1" "70" "9" "127262476" "127262476" "subst" "5.02424E-5" "00006" "NR5A1_000068" "g.127262476G>A" "" "{PMID:Philibert 2011:21691958}" "" "" "" "Germline" "" "" "0" "" "" "g.124500197G>A" "" "likely pathogenic" "" "0000469266" "1" "70" "9" "127253446" "127253446" "subst" "4.30541E-5" "00006" "NR5A1_000062" "g.127253446G>A" "" "{PMID:Philibert 2011:21691958}" "" "" "" "Germline" "" "" "0" "" "" "g.124491167G>A" "" "likely pathogenic" "" "0000469267" "1" "70" "9" "127262898" "127262898" "subst" "2.07089E-5" "00006" "NR5A1_000076" "g.127262898C>T" "" "{PMID:Philibert 2011:21691958}" "" "" "" "Germline" "" "" "0" "" "" "g.124500619C>T" "" "likely pathogenic" "" "0000469268" "1" "70" "9" "127262920" "127262920" "subst" "0" "00006" "NR5A1_000077" "g.127262920G>A" "" "{PMID:Köhler 2009:19439508}" "" "" "" "Germline" "" "" "0" "" "" "g.124500641G>A" "" "likely pathogenic" "" "0000469269" "1" "70" "9" "127265644" "127265644" "subst" "0" "00006" "NR5A1_000085" "g.127265644C>A" "" "{PMID:Köhler 2009:19439508}" "" "" "" "Germline" "" "" "0" "" "" "g.124503365C>A" "" "likely pathogenic" "" "0000469270" "1" "70" "9" "0" "0" "" "0" "00006" "PTCH1_000000" "g.?" "" "{PMID:Köhler 2009:19439508}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000469271" "1" "70" "9" "127265278" "127265278" "subst" "0" "00006" "NR5A1_000080" "g.127265278C>T" "" "{PMID:Paliwal 2011:21242195}" "" "" "" "Germline" "" "" "0" "" "" "g.124502999C>T" "" "likely pathogenic" "" "0000469272" "1" "70" "9" "127255353" "127255353" "subst" "0" "00006" "NR5A1_000063" "g.127255353G>A" "" "{PMID:Philibert 2011:21691958}" "" "" "" "Germline" "" "" "0" "" "" "g.124493074G>A" "" "likely pathogenic" "" "0000469273" "0" "90" "9" "127265627" "127265627" "subst" "0" "00006" "NR5A1_000055" "g.127265627G>T" "" "{PMID:Mallet 2004:15472171}" "" "" "" "De novo" "" "" "0" "" "" "g.124503348G>T" "" "pathogenic (dominant)" "" "0000469274" "0" "90" "9" "127262825" "127262825" "subst" "0" "00006" "NR5A1_000048" "g.127262825G>T" "" "{PMID:Kohler 2008:17694559}" "" "" "father not tested" "Germline/De novo (untested)" "" "" "0" "" "" "g.124500546G>T" "" "pathogenic" "" "0000469275" "1" "70" "9" "127262802" "127262802" "subst" "0.10006" "00006" "NR5A1_000013" "g.127262802C>G" "" "{PMID:WuQiang 2003:14623279}" "" "" "slightly diminished transactivation activity; associated with with adrenal diseases, frequency controls 0.06 (incl. 2 homozygotes)/cases 0.30" "Germline" "" "" "0" "" "" "g.124500523C>G" "" "association" "" "0000469276" "1" "70" "9" "127262605" "127262605" "subst" "0.000124814" "00006" "NR5A1_000011" "g.127262605C>T" "" "{PMID:Bashamboo 2010:20887963}" "" "" "" "Germline" "" "" "0" "" "" "g.124500326C>T" "" "likely pathogenic" "" "0000469277" "1" "70" "9" "127262527" "127262527" "subst" "6.08916E-5" "00006" "NR5A1_000069" "g.127262527C>T" "" "{PMID:Bashamboo 2010:20887963}" "" "" "" "Germline" "" "" "0" "" "" "g.124500248C>T" "" "likely pathogenic" "" "0000469278" "1" "70" "9" "127265674" "127265674" "subst" "0" "00006" "NR5A1_000039" "g.127265674T>C" "" "{PMID:Philibert 2010:20302644}" "" "M1V" "" "Germline" "" "" "0" "" "" "g.124503395T>C" "" "pathogenic" "" "0000469279" "1" "70" "9" "127262847" "127262847" "subst" "6.30204E-5" "00006" "NR5A1_000075" "g.127262847G>A" "" "{PMID:Bashamboo 2010:20887963}" "" "" "" "Germline" "" "" "0" "" "" "g.124500568G>A" "" "likely pathogenic" "" "0000469280" "1" "70" "9" "127262360" "127262363" "del" "0" "00006" "NR5A1_000065" "g.127262360_127262363del" "" "{PMID:Warman 2011:20861607}" "" "870+8_870+11delTCTC" "" "Germline" "" "" "0" "" "" "g.124500081_124500084del" "" "likely pathogenic" "" "0000469281" "0" "90" "9" "127265458" "127265461" "dup" "0" "00006" "NR5A1_000043" "g.127265458_127265461dup" "" "{PMID:Allali 2011:22028768}" "" "140_141insCACG" "" "Germline" "" "" "0" "" "" "g.124503179_124503182dup" "" "pathogenic" "" "0000469282" "1" "70" "9" "127262549" "127262557" "del" "0" "00006" "NR5A1_000070" "g.127262549_127262557del" "" "{PMID:Lourenço 2009:19246354}" "" "691_699delCTGCAGCTG" "" "Germline" "" "" "0" "" "" "g.124500270_124500278del" "" "likely pathogenic" "" "0000469283" "1" "70" "9" "127262573" "127262573" "del" "0" "00006" "NR5A1_000071" "g.127262573del" "" "{PMID:Lourenço 2009:19246354}" "" "666delC" "" "Germline" "" "" "0" "" "" "g.124500294del" "" "likely pathogenic" "" "0000469284" "1" "70" "9" "127262849" "127262849" "del" "0" "00006" "NR5A1_000044" "g.127262849del" "" "{PMID:Lourenço 2009:19246354}" "" "390delG" "" "Germline" "" "" "0" "" "" "g.124500570del" "" "likely pathogenic" "" "0000469285" "1" "90" "9" "127265451" "127265451" "del" "0" "00006" "NR5A1_000040" "g.127265451del" "" "{PMID:Philibert 2010:20302644}" "" "151delG" "" "Germline" "" "" "0" "" "" "g.124503172del" "" "pathogenic" "" "0000469286" "0" "90" "9" "127262869" "127262869" "dup" "0" "00006" "NR5A1_000041" "g.127262869dup" "" "{PMID:Philibert 2010:20302644}" "" "369insC" "" "Germline" "" "" "0" "" "" "g.124500590dup" "" "pathogenic" "" "0000469287" "1" "70" "9" "127253419" "127253433" "dup" "0" "00006" "NR5A1_000060" "g.127253419_127253433dup" "" "{PMID:Li 2011:20350242}" "" "1075_1089dupCTTGCGCTGCAGCTG" "" "Germline" "" "" "0" "" "" "g.124491140_124491154dup" "" "likely pathogenic" "" "0000469288" "0" "90" "9" "127265497" "127265498" "delins" "0" "00006" "NR5A1_000034" "g.127265497_127265498delinsTT" "" "{PMID:Achermann 1999:10369247}" "" "104_105delGCinsAA" "" "De novo" "" "" "0" "" "" "g.124503218_124503219delinsTT" "" "pathogenic" "" "0000469289" "0" "90" "9" "127253434" "127253441" "del" "0" "00006" "NR5A1_000057" "g.127253434_127253441del" "" "{PMID:Correa 2004:15070943}" "" "1058_1065delAGCTGGTG" "" "De novo" "" "" "0" "" "" "g.124491155_124491162del" "" "pathogenic (dominant)" "" "0000469290" "0" "70" "9" "127265657" "127265657" "del" "0" "00006" "NR5A1_000056" "g.127265657del" "" "{PMID:Hasegawa 2004:15579739}" "" "18delC" "" "De novo" "" "" "0" "" "" "g.124503378del" "" "pathogenic (dominant)" "" "0000469291" "1" "70" "9" "127262704" "127262704" "del" "0" "00006" "NR5A1_000074" "g.127262704del" "" "{PMID:Coutant 2007:17488792}" "" "536delC" "" "Germline" "" "" "0" "" "" "g.124500425del" "" "likely pathogenic" "" "0000469292" "0" "70" "9" "127262812" "127262815" "dup" "0" "00006" "NR5A1_000050" "g.127262812_127262815dup" "" "{PMID:Kohler 2008:17694559}" "" "424_427dupCCCA" "parents not tested" "Germline/De novo (untested)" "" "" "0" "" "" "g.124500533_124500536dup" "" "pathogenic" "" "0000469293" "21" "70" "9" "127245146" "127245146" "dup" "0" "00006" "NR5A1_000049" "g.127245146dup" "" "{PMID:Kohler 2008:17694559}" "" "1277dupT" "" "Germline" "" "" "0" "" "" "g.124482867dup" "" "likely pathogenic" "" "0000469294" "1" "90" "9" "127262964" "127262964" "subst" "0" "00006" "NR5A1_000035" "g.127262964C>T" "" "{PMID:Achermann 2002:11932325}" "" "" "" "Germline" "" "" "0" "" "" "g.124500685C>T" "" "pathogenic (recessive)" "" "0000469295" "0" "70" "9" "127265486" "127265486" "subst" "0" "00006" "NR5A1_000038" "g.127265486C>G" "" "{PMID:Allali 2011:22028768}" "" "" "" "Germline" "" "" "0" "" "" "g.124503207C>G" "" "likely pathogenic" "" "0000469296" "0" "90" "9" "127262849" "127262849" "del" "0" "00006" "NR5A1_000044" "g.127262849del" "" "{PMID:Allali 2011:22028768}" "" "390delG" "" "Germline" "" "" "0" "" "" "g.124500570del" "" "pathogenic" "" "0000469297" "1" "10" "9" "127262802" "127262802" "subst" "0.10006" "00006" "NR5A1_000013" "g.127262802C>G" "" "{PMID:Kohler 2008:17694559}" "" "" "" "Germline" "" "" "0" "" "" "g.124500523C>G" "" "benign" "" "0000473752" "0" "90" "9" "127265664" "127265664" "subst" "0" "03225" "NR5A1_000087" "g.127265664G>T" "" "Fabbri-Scallet, submitted 2019" "" "" "" "Germline" "" "" "0" "" "" "g.124503385G>T" "" "pathogenic" "" "0000473753" "21" "70" "9" "127265599" "127265599" "subst" "0" "03225" "NR5A1_000088" "g.127265599C>T" "" "Fabbri-Scallet, submitted 2019" "" "" "" "Germline" "" "" "0" "" "" "g.124503320C>T" "" "likely pathogenic" "" "0000473754" "0" "70" "9" "127265438" "127265438" "subst" "0" "03225" "NR5A1_000089" "g.127265438C>G" "" "Fabbri-Scallet, submitted 2019" "" "" "" "De novo" "" "" "0" "" "" "g.124503159C>G" "" "likely pathogenic" "" "0000473755" "11" "70" "9" "127262937" "127262953" "del" "0" "03225" "NR5A1_000090" "g.127262937_127262953del" "" "Fabbri-Scallet, submitted 2019" "" "" "" "Germline" "" "" "0" "" "" "g.124500658_124500674del" "" "pathogenic" "" "0000473756" "0" "90" "9" "127255362" "127255362" "subst" "0" "03225" "NR5A1_000008" "g.127255362G>A" "" "Fabbri-Scallet, submitted 2019" "" "" "" "Germline" "" "" "0" "" "" "g.124493083G>A" "" "likely pathogenic" "" "0000475024" "1" "90" "9" "127265441" "127265464" "del" "0" "00006" "NR5A1_000103" "g.127265441_127265464del" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.124503162_124503185del" "" "pathogenic" "" "0000475025" "1" "70" "9" "127253408" "127253408" "subst" "0" "00006" "NR5A1_000093" "g.127253408C>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.124491129C>A" "" "likely pathogenic" "" "0000475026" "1" "50" "9" "127262707" "127262707" "subst" "1.17995E-5" "00006" "NR5A1_000100" "g.127262707C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.124500428C>T" "" "VUS" "" "0000475027" "1" "90" "9" "127262988" "127262988" "subst" "8.33181E-6" "00006" "NR5A1_000047" "g.127262988C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.124500709C>T" "" "pathogenic" "" "0000475028" "1" "90" "9" "127262610" "127262610" "subst" "0" "00006" "NR5A1_000098" "g.127262610G>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.124500331G>T" "" "pathogenic" "" "0000475029" "1" "90" "9" "127253508" "127253508" "subst" "0" "00006" "NR5A1_000094" "g.127253508C>G" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.124491229C>G" "" "pathogenic" "" "0000475030" "1" "90" "9" "127262989" "127262990" "del" "0" "00006" "NR5A1_000102" "g.127262989_127262990del" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.124500710_124500711del" "" "pathogenic" "" "0000475031" "1" "90" "9" "127245285" "127245285" "subst" "0" "00006" "NR5A1_000092" "g.127245285C>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "De novo" "" "" "0" "" "46,XY" "g.124483006C>A" "" "pathogenic" "" "0000475032" "1" "90" "9" "127253382" "127253384" "del" "0" "00006" "NR5A1_000003" "g.127253382_127253384del" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.124491103_124491105del" "" "pathogenic" "" "0000475033" "1" "90" "9" "127262617" "127262617" "del" "0" "00006" "NR5A1_000099" "g.127262617del" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.124500338del" "" "pathogenic" "" "0000475034" "1" "70" "9" "127265483" "127265483" "subst" "0" "00006" "NR5A1_000104" "g.127265483G>C" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.124503204G>C" "" "likely pathogenic" "" "0000475035" "1" "70" "9" "127255371" "127255371" "subst" "0" "00006" "NR5A1_000096" "g.127255371G>C" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.124493092G>C" "" "likely pathogenic" "" "0000475036" "1" "70" "9" "127255371" "127255371" "subst" "0" "00006" "NR5A1_000096" "g.127255371G>C" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.124493092G>C" "" "likely pathogenic" "" "0000475037" "1" "90" "9" "127255314" "127255315" "del" "0" "00006" "NR5A1_000095" "g.127255314_127255315del" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.124493035_124493036del" "" "pathogenic" "" "0000475038" "1" "70" "9" "127265498" "127265498" "subst" "0" "00006" "NR5A1_000022" "g.127265498C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.124503219C>T" "" "likely pathogenic" "" "0000475039" "11" "90" "9" "127262974" "127262974" "del" "0" "00006" "NR5A1_000101" "g.127262974del" "" "{PMID:Eggers 2016:27899157}" "" "" "mother negative" "Germline" "" "" "0" "" "46,XY" "g.124500695del" "" "pathogenic" "" "0000475040" "1" "90" "9" "127262974" "127262974" "del" "0" "00006" "NR5A1_000101" "g.127262974del" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.124500695del" "" "pathogenic" "" "0000475041" "1" "70" "9" "127245167" "127245167" "subst" "0" "00006" "NR5A1_000091" "g.127245167A>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.124482888A>T" "" "likely pathogenic" "" "0000475042" "1" "90" "9" "127262606" "127262606" "subst" "0" "00006" "NR5A1_000097" "g.127262606G>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.124500327G>T" "" "pathogenic" "" "0000475043" "1" "90" "9" "127262988" "127262988" "subst" "8.33181E-6" "00006" "NR5A1_000047" "g.127262988C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.124500709C>T" "" "pathogenic" "" "0000500894" "0" "70" "9" "127265370" "127265370" "subst" "0" "03225" "NR5A1_000105" "g.127265370T>A" "" "Fabbri-Scallet, submitted 2019" "" "" "" "Germline" "" "" "0" "" "" "g.124503091T>A" "" "likely pathogenic" "" "0000536254" "0" "90" "9" "127255361" "127255361" "subst" "0" "01943" "NR5A1_000106" "g.127255361C>T" "" "" "" "NR5A1(NM_004959.4):c.938G>A (p.R313H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124493082C>T" "" "pathogenic" "" "0000536255" "0" "70" "9" "127255422" "127255422" "subst" "0" "01943" "NR5A1_000064" "g.127255422C>T" "" "" "" "NR5A1(NM_004959.4):c.877G>A (p.D293N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124493143C>T" "" "likely pathogenic" "" "0000536256" "0" "50" "9" "127262664" "127262664" "subst" "0" "02326" "NR5A1_000107" "g.127262664G>A" "" "" "" "NR5A1(NM_004959.5):c.575C>T (p.A192V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124500385G>A" "" "VUS" "" "0000536257" "0" "90" "9" "127262988" "127262988" "subst" "8.33181E-6" "01943" "NR5A1_000047" "g.127262988C>T" "" "" "" "NR5A1(NM_004959.4):c.251G>A (p.R84H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124500709C>T" "" "pathogenic" "" "0000536258" "0" "50" "9" "127265394" "127265394" "subst" "0" "02327" "NR5A1_000108" "g.127265394A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124503115A>G" "" "VUS" "" "0000592084" "0" "90" "9" "100195138" "127243515" "inv" "0" "00006" "TDRD7_000013" "g.(100192473_100195138)_(127243515_127269693)inv" "" "{PMID:Lachke 2011:21436445}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "46,XY,inv(9)(q22.33q34.11)" "" "" "pathogenic" "" "0000611850" "0" "50" "9" "127253468" "127253468" "subst" "0" "01943" "NR5A1_000109" "g.127253468G>C" "" "" "" "NR5A1(NM_004959.4):c.1030C>G (p.L344V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124491189G>C" "" "VUS" "" "0000678521" "0" "70" "9" "127265579" "127265579" "subst" "0" "02327" "NR5A1_000110" "g.127265579G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000734764" "0" "30" "9" "127253300" "127253300" "subst" "0" "00000" "NR5A1_000111" "g.127253300A>C" "5/25 families" "{PMID:Maranhao 2015:26352687}" "" "NR5A1:c.1138+60T>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000803871" "0" "50" "9" "127262718" "127262718" "subst" "0" "02325" "NR5A1_000112" "g.127262718G>A" "" "" "" "NR5A1(NM_004959.5):c.521C>T (p.P174L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803872" "0" "50" "9" "127265438" "127265438" "subst" "0" "01943" "NR5A1_000082" "g.127265438C>T" "" "" "" "NR5A1(NM_004959.4):c.164G>A (p.C55Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000814351" "0" "70" "9" "127265389" "127265389" "subst" "4.75543E-6" "03779" "NR5A1_000113" "g.127265389C>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs865902758" "0" "" "" "" "" "likely pathogenic" "" "0000830962" "21" "70" "9" "127262661" "127262661" "subst" "0" "01468" "NR5A1_000114" "g.127262661A>T" "" "{PMID:Giannakopoulos 2022:35277652}" "" "" "" "Germline" "?" "" "0" "" "" "g.124500382A>T" "" "likely pathogenic" "ACMG" "0000852105" "0" "70" "9" "127265396" "127265396" "subst" "0" "02327" "NR5A1_000115" "g.127265396C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000881326" "0" "70" "9" "127262661" "127262661" "subst" "0" "02300" "NR5A1_000114" "g.127262661A>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP2, PP3, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.124500382A>T" "" "likely pathogenic (dominant)" "ACMG" "0000888612" "0" "50" "9" "127262646" "127262646" "subst" "5.99209E-5" "02327" "NR5A1_000116" "g.127262646G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888613" "0" "90" "9" "127262756" "127262756" "del" "0" "02327" "NR5A1_000117" "g.127262756del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929530" "0" "70" "9" "127262607" "127262607" "subst" "2.619E-5" "02327" "NR5A1_000118" "g.127262607T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000939807" "0" "70" "9" "127255309" "127255309" "subst" "0" "00006" "NR5A1_000119" "g.127255309C>T" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.124493030C>T" "" "likely pathogenic (dominant)" "" "0000960180" "0" "90" "9" "127262989" "127262989" "subst" "0" "03779" "NR5A1_000079" "g.127262989G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1832458239" "0" "" "" "" "" "pathogenic" "" "0000997485" "0" "30" "9" "127245186" "127245186" "subst" "0" "01804" "NR5A1_000121" "g.127245186C>G" "" "" "" "NR5A1(NM_004959.4):c.1237G>C (p.(Gly413Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997486" "0" "30" "9" "127245261" "127245261" "subst" "0" "01804" "NR5A1_000122" "g.127245261T>G" "" "" "" "NR5A1(NM_004959.4):c.1162A>C (p.(Ile388Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014497" "0" "50" "9" "127262535" "127262535" "subst" "2.45221E-5" "02327" "NR5A1_000123" "g.127262535G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025584" "0" "50" "9" "127253473" "127253473" "subst" "2.17063E-5" "02325" "NR5A1_000124" "g.127253473G>A" "" "" "" "NR5A1(NM_004959.5):c.1025C>T (p.S342L)" "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 NR5A1 ## Count = 144 "{{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}}" "0000222844" "00014792" "90" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Ala260Val)" "4" "0000222845" "00014792" "90" "1114" "0" "1116" "0" "c.1114_1116del" "r.(?)" "p.(Lys372del)" "6" "0000251435" "00014792" "10" "1425" "0" "1425" "0" "c.*39T>G" "r.(=)" "p.(=)" "" "0000255524" "00014792" "90" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Leu265ArgfsTer31)" "" "0000296613" "00014792" "10" "871" "-20" "871" "-20" "c.871-20C>T" "r.(=)" "p.(=)" "" "0000300420" "00014792" "10" "1468" "0" "1468" "0" "c.*82C>T" "r.(=)" "p.(=)" "" "0000300421" "00014792" "50" "140" "0" "140" "0" "c.140A>G" "r.(?)" "p.(Tyr47Cys)" "" "0000300422" "00014792" "50" "407" "0" "407" "0" "c.407C>T" "r.(?)" "p.(Pro136Leu)" "" "0000300423" "00014792" "50" "574" "0" "574" "0" "c.574G>T" "r.(?)" "p.(Ala192Ser)" "" "0000300424" "00014792" "50" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Gly212Ser)" "" "0000300425" "00014792" "50" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Arg313Cys)" "" "0000304525" "00014792" "50" "-16" "3" "-16" "6" "c.-16+3_-16+6del" "r.spl?" "p.?" "" "0000304526" "00014792" "10" "1558" "0" "1559" "0" "c.*172_*173del" "r.(=)" "p.(=)" "" "0000304527" "00014792" "90" "1106" "0" "1109" "0" "c.1106_1109del" "r.(?)" "p.(Val369AlafsTer12)" "" "0000304528" "00014792" "90" "180" "0" "181" "0" "c.180_181del" "r.(?)" "p.(Gln61AlafsTer25)" "" "0000304529" "00014792" "90" "211" "0" "211" "0" "c.211del" "r.(?)" "p.(Gln71ArgfsTer4)" "" "0000304530" "00014792" "50" "247" "0" "247" "0" "c.247G>A" "r.(?)" "p.(Val83Met)" "" "0000304531" "00014792" "10" "375" "0" "375" "0" "c.375G>A" "r.(?)" "p.(Pro125=)" "" "0000304532" "00014792" "10" "437" "0" "437" "0" "c.437G>C" "r.(?)" "p.(Gly146Ala)" "" "0000304533" "00014792" "10" "871" "-20" "871" "-20" "c.871-20C>T" "r.(=)" "p.(=)" "" "0000337093" "00014792" "10" "871" "-20" "871" "-20" "c.871-20C>T" "r.(=)" "p.(=)" "" "0000345733" "00014792" "10" "437" "0" "437" "0" "c.437G>C" "r.(?)" "p.(Gly146Ala)" "" "0000347006" "00014792" "70" "677" "0" "677" "0" "c.677T>G" "r.(?)" "p.(Leu226Arg)" "" "0000369707" "00014792" "90" "493" "0" "493" "0" "c.493G>C" "r.(?)" "p.(Gly165Arg)" "" "0000369708" "00014792" "90" "23" "0" "23" "0" "c.23A>G" "r.(?)" "p.(Asp8Gly)" "" "0000468032" "00014792" "90" "95" "0" "95" "0" "c.95G>A" "r.(?)" "p.(Ser32Asn)" "" "0000469121" "00014792" "90" "115" "0" "115" "0" "c.115C>T" "r.(?)" "p.(Arg39Cys)" "" "0000469122" "00014792" "90" "741" "0" "741" "0" "c.741C>A" "r.(?)" "p.(Cys247*)" "" "0000469123" "00014792" "90" "1187" "0" "1187" "0" "c.1187del" "r.(?)" "p.(Lys396Argfs*34)" "" "0000469124" "00014792" "90" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Cys65Tyr)" "" "0000469170" "00014792" "90" "112" "0" "112" "0" "c.112A>T" "r.(?)" "p.(Lys38*)" "" "0000469235" "00014792" "90" "238" "0" "238" "0" "c.238del" "r.(?)" "p.(Leu80Trpfs*9)" "" "0000469236" "00014792" "70" "1138" "1" "1138" "1" "c.1138+1G>T" "r.spl" "p.?" "" "0000469237" "00014792" "90" "764" "0" "764" "0" "c.764G>T" "r.(?)" "p.(Arg255Leu)" "5" "0000469238" "00014792" "90" "1063" "0" "1063" "0" "c.1063G>A" "r.(?)" "p.(Val355Met)" "6" "0000469239" "00014792" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Asp293Asn)" "5" "0000469240" "00014792" "70" "116" "0" "116" "0" "c.116G>C" "r.(?)" "p.(Arg39Pro)" "3" "0000469241" "00014792" "70" "1138" "0" "1138" "0" "c.1138G>T" "r.(?)" "p.(Asp380Tyr)" "6" "0000469242" "00014792" "90" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Arg191Cys)" "3" "0000469243" "00014792" "90" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Arg84Cys)" "3" "0000469244" "00014792" "90" "842" "0" "842" "0" "c.842G>C" "r.(?)" "p.(Arg281Pro)" "5" "0000469245" "00014792" "90" "1082" "0" "1082" "0" "c.1082T>C" "r.(?)" "p.(Leu361Pro)" "6" "0000469246" "00014792" "90" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Arg92Gln)" "3" "0000469247" "00014792" "90" "234" "0" "234" "0" "c.234G>A" "r.(?)" "p.(Met78Ile)" "3" "0000469248" "00014792" "90" "43" "0" "43" "0" "c.43G>A" "r.(?)" "p.(Val15Met)" "3" "0000469249" "00014792" "90" "1310" "0" "1310" "0" "c.1310T>A" "r.(?)" "p.(Leu437Gln)" "6" "0000469250" "00014792" "90" "271" "0" "271" "0" "c.271G>A" "r.(?)" "p.(Gly91Ser)" "3" "0000469251" "00014792" "70" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Arg84His)" "3" "0000469252" "00014792" "70" "98" "0" "98" "0" "c.98G>C" "r.(?)" "p.(Cys33Ser)" "3" "0000469253" "00014792" "90" "122" "0" "122" "0" "c.122T>G" "r.(?)" "p.(Val41Gly)" "3" "0000469254" "00014792" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.0?" "3" "0000469255" "00014792" "70" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Trp279*)" "5" "0000469256" "00014792" "70" "86" "0" "86" "0" "c.86C>G" "r.(?)" "p.(Thr29Arg)" "3" "0000469257" "00014792" "70" "1181" "0" "1181" "0" "c.1181A>C" "r.(?)" "p.(Gln394Pro)" "6" "0000469258" "00014792" "70" "307" "0" "307" "0" "c.307C>G" "r.(?)" "p.(Arg103Gly)" "3" "0000469259" "00014792" "70" "1212" "0" "1212" "0" "c.1212C>A" "r.(?)" "p.(Tyr404*)" "6" "0000469260" "00014792" "70" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Cys55Tyr)" "3" "0000469261" "00014792" "70" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Arg313Cys)" "6" "0000469262" "00014792" "90" "835" "0" "835" "0" "c.835T>A" "r.(?)" "p.(Trp279Arg)" "5" "0000469263" "00014792" "70" "549" "0" "549" "0" "c.549C>A" "r.(?)" "p.(Tyr183*)" "3" "0000469264" "00014792" "70" "187" "0" "187" "0" "c.187A>C" "r.(?)" "p.(Lys63Gln)" "3" "0000469265" "00014792" "70" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255Cys)" "5" "0000469266" "00014792" "70" "1052" "0" "1052" "0" "c.1052C>T" "r.(?)" "p.(Ala351Val)" "6" "0000469267" "00014792" "70" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114Gln)" "3" "0000469268" "00014792" "70" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Gln107*)" "3" "0000469269" "00014792" "70" "31" "0" "31" "0" "c.31G>T" "r.(?)" "p.(Glu11*)" "3" "0000469270" "00014792" "70" "103" "-3" "103" "-3" "c.103-3C>A" "r.spl?" "p.?" "" "0000469271" "00014792" "70" "244" "80" "244" "80" "c.244+80G>A" "r.spl?" "p.(=)" "3i" "0000469272" "00014792" "70" "946" "0" "946" "0" "c.946C>T" "r.(?)" "p.(Gln316*)" "6" "0000469273" "00014792" "90" "48" "0" "48" "0" "c.48C>A" "r.(?)" "p.(Cys16*)" "3" "0000469274" "00014792" "90" "414" "0" "414" "0" "c.414C>A" "r.(?)" "p.(Tyr138*)" "3" "0000469275" "00014792" "70" "437" "0" "437" "0" "c.437G>C" "r.(?)" "p.(Gly146Ala)" "3" "0000469276" "00014792" "70" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Gly212Ser)" "4" "0000469277" "00014792" "70" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Asp238Asn)" "4" "0000469278" "00014792" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "3" "0000469279" "00014792" "70" "392" "0" "392" "0" "c.392C>T" "r.(?)" "p.(Pro131Leu)" "3" "0000469280" "00014792" "70" "870" "8" "870" "11" "c.870+8_870+11del" "r.spl?" "p.(=)" "5i" "0000469281" "00014792" "90" "141" "0" "144" "0" "c.141_144dup" "r.(?)" "p.(Cys49Hisfs*39)" "3" "0000469282" "00014792" "70" "691" "0" "699" "0" "c.691_699del" "r.(?)" "p.(Leu231_Leu233del)" "4" "0000469283" "00014792" "70" "666" "0" "666" "0" "c.666del" "r.(?)" "p.(Asn222Lysfs*74)" "4" "0000469284" "00014792" "70" "390" "0" "390" "0" "c.390del" "r.(?)" "p.(Pro131Argfs*165)" "3" "0000469285" "00014792" "90" "151" "0" "151" "0" "c.151del" "r.(?)" "p.(Glu51Argfs*24)" "3" "0000469286" "00014792" "90" "374" "0" "374" "0" "c.374dup" "r.(?)" "p.(Met126Aspfs*23)" "3" "0000469287" "00014792" "70" "1075" "0" "1089" "0" "c.1075_1089dup" "r.(?)" "p.(Leu359_Leu363dup)" "6" "0000469288" "00014792" "90" "104" "0" "105" "0" "c.104_105delinsAA" "r.(?)" "p.(Gly35Glu)" "3" "0000469289" "00014792" "90" "1058" "0" "1065" "0" "c.1058_1065del" "r.(?)" "p.(Glu353Alafs*31)" "6" "0000469290" "00014792" "70" "18" "0" "18" "0" "c.18del" "r.(?)" "p.(Asp6Glufs*69)" "3" "0000469291" "00014792" "70" "536" "0" "536" "0" "c.536del" "r.(?)" "p.(Pro179Hisfs*117)" "3" "0000469292" "00014792" "70" "424" "0" "427" "0" "c.424_427dup" "r.(?)" "p.(Ser143Thrfs*7)" "3" "0000469293" "00014792" "70" "1277" "0" "1277" "0" "c.1277dup" "r.(?)" "p.(Arg427Alafs*140)" "6" "0000469294" "00014792" "90" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Arg92Gln)" "" "0000469295" "00014792" "70" "116" "0" "116" "0" "c.116G>C" "r.(?)" "p.(Arg39Pro)" "" "0000469296" "00014792" "90" "390" "0" "390" "0" "c.390del" "r.(?)" "p.(Pro131Argfs*165)" "" "0000469297" "00014792" "10" "437" "0" "437" "0" "c.437G>C" "r.(?)" "p.(Gly146Ala)" "" "0000473752" "00014792" "90" "11" "0" "11" "0" "c.11C>A" "r.(?)" "p.(Ser4*)" "" "0000473753" "00014792" "70" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Gly26Arg)" "" "0000473754" "00014792" "70" "164" "0" "164" "0" "c.164G>C" "r.(?)" "p.(Cys55Ser)" "" "0000473755" "00014792" "70" "288" "0" "304" "0" "c.288_304del" "r.(?)" "p.(Met98Glyfs*45)" "" "0000473756" "00014792" "90" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Arg313Cys)" "" "0000475024" "00014792" "90" "140" "0" "163" "0" "c.140_163del" "r.(?)" "p.(Ala48_Pro55del)" "" "0000475025" "00014792" "70" "1090" "0" "1090" "0" "c.1090G>T" "r.(?)" "p.(Asp364Tyr)" "" "0000475026" "00014792" "50" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Gly178Arg)" "" "0000475027" "00014792" "90" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Arg84His)" "" "0000475028" "00014792" "90" "629" "0" "629" "0" "c.629C>A" "r.(?)" "p.(Pro210Gln)" "" "0000475029" "00014792" "90" "991" "-1" "991" "-1" "c.991-1G>C" "r.spl" "p.?" "" "0000475030" "00014792" "90" "253" "0" "254" "0" "c.253_254del" "r.(?)" "p.(Ala85Argfs*24)" "" "0000475031" "00014792" "90" "1139" "-1" "1139" "-1" "c.1139-1G>T" "r.spl" "p.?" "" "0000475032" "00014792" "90" "1114" "0" "1116" "0" "c.1114_1116del" "r.(?)" "p.(Lys372del)" "" "0000475033" "00014792" "90" "624" "0" "624" "0" "c.624del" "r.(?)" "p.(Met208Ilefs*39)" "" "0000475034" "00014792" "70" "119" "0" "119" "0" "c.119C>G" "r.(?)" "p.(Thr40Arg)" "" "0000475035" "00014792" "70" "928" "0" "928" "0" "c.928C>G" "r.(?)" "p.(His310Asp)" "" "0000475036" "00014792" "70" "928" "0" "928" "0" "c.928C>G" "r.(?)" "p.(His310Asp)" "" "0000475037" "00014792" "90" "984" "0" "985" "0" "c.984_985del" "r.(?)" "p.(Lys328Asnfs*151)" "" "0000475038" "00014792" "70" "104" "0" "104" "0" "c.104G>A" "r.(?)" "p.(Gly35Asp)" "" "0000475039" "00014792" "90" "265" "0" "265" "0" "c.265del" "r.(?)" "p.(Ala89Profs*120)" "" "0000475040" "00014792" "90" "265" "0" "265" "0" "c.265del" "r.(?)" "p.(Ala89Profs*120)" "" "0000475041" "00014792" "70" "1256" "0" "1256" "0" "c.1256T>A" "r.(?)" "p.(Leu419Gln)" "" "0000475042" "00014792" "90" "633" "0" "633" "0" "c.633C>A" "r.(?)" "p.(Tyr211*)" "" "0000475043" "00014792" "90" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Arg84His)" "" "0000500894" "00014792" "70" "232" "0" "232" "0" "c.232A>T" "r.(?)" "p.(Met78Leu)" "" "0000536254" "00014792" "90" "938" "0" "938" "0" "c.938G>A" "r.(?)" "p.(Arg313His)" "" "0000536255" "00014792" "70" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Asp293Asn)" "" "0000536256" "00014792" "50" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Ala192Val)" "" "0000536257" "00014792" "90" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Arg84His)" "" "0000536258" "00014792" "50" "208" "0" "208" "0" "c.208T>C" "r.(?)" "p.(Phe70Leu)" "" "0000592084" "00014792" "90" "0" "" "0" "" "c.(-181_*1522)::[NM_014290.2:(208-742_563+618)]" "r.?" "p.?" "_1_7_" "0000611850" "00014792" "50" "1030" "0" "1030" "0" "c.1030C>G" "r.(?)" "p.(Leu344Val)" "" "0000678521" "00014792" "70" "96" "0" "96" "0" "c.96C>G" "r.(?)" "p.(Ser32Arg)" "" "0000734764" "00014792" "30" "1138" "60" "1138" "60" "c.1138+60T>G" "r.(=)" "p.(=)" "" "0000803871" "00014792" "50" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Pro174Leu)" "" "0000803872" "00014792" "50" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Cys55Tyr)" "" "0000814351" "00014792" "70" "213" "0" "213" "0" "c.213G>C" "r.(?)" "p.(Gln71His)" "" "0000830962" "00014792" "70" "578" "0" "578" "0" "c.578T>A" "r.(?)" "p.(Ile193Asn)" "4" "0000852105" "00014792" "70" "206" "0" "206" "0" "c.206G>C" "r.(?)" "p.(Arg69Pro)" "" "0000881326" "00014792" "70" "578" "0" "578" "0" "c.578T>A" "r.(?)" "p.(Ile193Asn)" "" "0000888612" "00014792" "50" "593" "0" "593" "0" "c.593C>T" "r.(?)" "p.(Pro198Leu)" "" "0000888613" "00014792" "90" "485" "0" "485" "0" "c.485del" "r.(?)" "p.(Gly162Alafs*134)" "" "0000929530" "00014792" "70" "632" "0" "632" "0" "c.632A>G" "r.(?)" "p.(Tyr211Cys)" "" "0000939807" "00014792" "70" "990" "0" "990" "0" "c.990G>A" "r.?" "p.?" "5" "0000960180" "00014792" "90" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Arg84Cys)" "" "0000997485" "00014792" "30" "1237" "0" "1237" "0" "c.1237G>C" "r.(?)" "p.(Gly413Arg)" "" "0000997486" "00014792" "30" "1162" "0" "1162" "0" "c.1162A>C" "r.(?)" "p.(Ile388Leu)" "" "0001014497" "00014792" "50" "704" "0" "704" "0" "c.704C>T" "r.(?)" "p.(Pro235Leu)" "" "0001025584" "00014792" "50" "1025" "0" "1025" "0" "c.1025C>T" "r.(?)" "p.(Ser342Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 104 "{{screeningid}}" "{{variantid}}" "0000133603" "0000222844" "0000133604" "0000222845" "0000165909" "0000369707" "0000165910" "0000369708" "0000227770" "0000468032" "0000228860" "0000469121" "0000228861" "0000469122" "0000228862" "0000469123" "0000228863" "0000469124" "0000228907" "0000469170" "0000228948" "0000469235" "0000228949" "0000469236" "0000228950" "0000469255" "0000228951" "0000469280" "0000228952" "0000469256" "0000228953" "0000469257" "0000228954" "0000469258" "0000228955" "0000469259" "0000228956" "0000469260" "0000228957" "0000469261" "0000228958" "0000469262" "0000228959" "0000469281" "0000228960" "0000469275" "0000228961" "0000469237" "0000228962" "0000469238" "0000228963" "0000469263" "0000228964" "0000469264" "0000228965" "0000469254" "0000228966" "0000469239" "0000228967" "0000469282" "0000228968" "0000469283" "0000228969" "0000469284" "0000228970" "0000469278" "0000228971" "0000469240" "0000228972" "0000469241" "0000228973" "0000469285" "0000228974" "0000469286" "0000228975" "0000469265" "0000228976" "0000469266" "0000228977" "0000469287" "0000228978" "0000469279" "0000228979" "0000469242" "0000228980" "0000469276" "0000228981" "0000469277" "0000228982" "0000469267" "0000228983" "0000469243" "0000228984" "0000469268" "0000228985" "0000469269" "0000228986" "0000469270" "0000228987" "0000469244" "0000228988" "0000469271" "0000228989" "0000469272" "0000228990" "0000469245" "0000228991" "0000469288" "0000228992" "0000469246" "0000228993" "0000469289" "0000228994" "0000469273" "0000228995" "0000469290" "0000228996" "0000469247" "0000228997" "0000469248" "0000228998" "0000469249" "0000228999" "0000469250" "0000229000" "0000469291" "0000229001" "0000469251" "0000229002" "0000469274" "0000229003" "0000469252" "0000229004" "0000469292" "0000229004" "0000469297" "0000229005" "0000469293" "0000229006" "0000469253" "0000229007" "0000469294" "0000229009" "0000469295" "0000229010" "0000469296" "0000231679" "0000473752" "0000231680" "0000473753" "0000231682" "0000473754" "0000231683" "0000473755" "0000231684" "0000473756" "0000232514" "0000475024" "0000232518" "0000475025" "0000232537" "0000475026" "0000232551" "0000475027" "0000232553" "0000475028" "0000232553" "0000475042" "0000232558" "0000475029" "0000232561" "0000475030" "0000232576" "0000475031" "0000232585" "0000475032" "0000232586" "0000475033" "0000232608" "0000475034" "0000232609" "0000475035" "0000232610" "0000475036" "0000232611" "0000475037" "0000232634" "0000475038" "0000232650" "0000475039" "0000232651" "0000475041" "0000232652" "0000475043" "0000232655" "0000475040" "0000248008" "0000500894" "0000261957" "0000592084" "0000335852" "0000734764" "0000398732" "0000830962" "0000420967" "0000881326" "0000441865" "0000939807"