### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NR0B1) # 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}}" "NR0B1" "nuclear receptor subfamily 0, group B, member 1" "X" "p21.3" "unknown" "NG_009814.1" "UD_132118434485" "" "http://www.LOVD.nl/NR0B1" "" "1" "7960" "190" "300473" "1" "1" "1" "1" "Alias: DAX1\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/NR0B1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2006-03-28 00:00:00" "00006" "2017-08-04 19:42:47" "00000" "2022-05-09 15:47:41" ## 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}}" "00014799" "NR0B1" "nuclear receptor subfamily 0, group B, member 1" "001" "NM_000475.4" "" "NP_000466.2" "" "" "" "-15" "1570" "1413" "30327495" "30322539" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "02137" "SRXY2" "46,XY sex reversal, type 2 (SRXY-2)" "XL" "300018" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02144" "AHC" "adrenal hypoplasia, congenital (AHC, with hypogonadotropic hypogonadism)" "XLR" "300200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02239" "GKD" "deficiency, glycerol kinase (GKD)" "XLR" "307030" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04147" "MRT" "mental retardation, autosomal recessive (MRT, intellectual disability (IDT))" "" "" "" "autosomal recessive" "" "00006" "2014-10-11 12:21:35" "00006" "2018-12-18 09:25:11" "05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NR0B1" "02137" "NR0B1" "02144" ## Individuals ## Do not remove or alter this header ## ## Count = 140 "{{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}}" "00029662" "" "" "" "1" "" "00006" "{PMID:Carrie 1999:10471494}" "" "M" "" "" "" "0" "" "" "" "" "00029663" "" "" "" "1" "" "00006" "{PMID:Carrie 1999:10471494}" "" "M" "" "? (unknown)" "" "0" "" "" "" "" "00029664" "" "" "" "1" "" "00006" "{PMID:Carrie 1999:10471494}" "" "M" "" "? (unknown)" "" "0" "" "" "" "" "00029665" "" "" "" "1" "" "00006" "{PMID:Carrie 1999:10471494}" "" "M" "" "? (unknown)" "" "0" "" "" "" "" "00034404" "" "" "" "1" "" "00006" "{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}" "" "M" "no" "United States" "" "0" "" "" "" "" "00034406" "" "" "" "1" "" "00006" "{PMID:Zhang 2004:15300857}" "" "M" "" "" "" "0" "" "" "" "" "00034407" "" "" "" "1" "" "00006" "{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}" "" "M" "no" "United States" "" "0" "" "" "" "" "00034408" "" "" "" "1" "" "00006" "{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}" "" "M" "no" "United States" "" "0" "" "" "" "" "00034409" "" "" "" "1" "" "00006" "{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}" "" "M" "no" "United States" "" "0" "" "" "" "" "00034411" "" "" "" "1" "" "00006" "{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}" "" "M" "no" "United States" "" "0" "" "" "" "" "00034412" "" "" "" "1" "" "00006" "{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}" "" "M" "no" "United States" "" "0" "" "" "" "" "00034413" "" "" "" "1" "" "00006" "{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}" "" "M" "no" "United States" "" "0" "" "" "" "" "00034414" "" "" "" "1" "" "00006" "{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}" "" "M" "no" "United States" "" "0" "" "" "" "" "00034415" "" "" "" "1" "" "00006" "{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}" "" "M" "no" "United States" "" "0" "" "" "" "" "00034417" "" "" "" "1" "" "00006" "{PMID:Piko 2009:19084397}" "analysis 135 BMD/DMD cases" "?" "" "Hungary" "" "0" "" "" "" "" "00034418" "" "" "" "1" "" "00006" "{PMID:Piko 2009:19084397}" "analysis 135 BMD/DMD cases" "?" "" "Hungary" "" "0" "" "" "" "" "00112403" "" "" "" "1" "" "02152" "{PMID:Guo 1995:7609262}" "" "" "" "" "" "0" "" "" "" "" "00112404" "" "" "" "1" "" "02152" "{PMID:Guo 1995:7609262}" "" "" "" "" "" "0" "" "" "" "" "00112405" "" "" "" "1" "" "02152" "{PMID:Kinoshita 1997:9195207}" "" "M" "" "Japan" "" "0" "" "" "" "09195207-Pat3" "00112406" "" "" "" "1" "" "02152" "{PMID:Ozisik 2003:12519885}" "" "" "" "" "" "0" "" "" "" "" "00112407" "" "" "" "34" "" "00006" "{PMID:Tarpey 2009:19377476}" "for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "M" "" "" "" "0" "" "" "" "" "00112408" "" "" "" "1" "" "02152" "{PMID:Binder 2000:10931108}" "" "" "" "" "" "0" "" "" "" "" "00112409" "" "" "" "1" "" "02152" "{PMID:Meloni 1996:8844218}" "" "" "" "" "" "0" "" "" "" "" "00112410" "" "" "" "1" "" "02152" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00112411" "" "" "" "1" "" "02152" "{PMID:Hamaguchi 1998:9508067}" "" "" "" "" "" "0" "" "" "" "" "00112412" "" "" "" "1" "" "02152" "{PMID:Nakae 1997:9360549}; {OMIM300473:0015}" "" "" "" "" "" "0" "" "" "" "" "00112413" "" "" "" "1" "" "02152" "{PMID:Zhang 2001:11748852}" "" "" "" "" "" "0" "" "" "" "" "00112414" "" "" "" "1" "" "02152" "{PMID:Nakae 1996:8855822}; {OMIM300473:0011}" "2 sibs" "M" "" "Japan" "" "0" "" "" "" "" "00112415" "" "" "" "1" "" "02152" "{PMID:Muscatelli 1994:7990958}" "" "" "" "" "" "0" "" "" "" "" "00112416" "" "" "" "1" "" "02152" "{PMID:Muscatelli 1994:7990958}" "" "" "" "" "" "0" "" "" "" "" "00112417" "" "" "" "1" "" "02152" "{PMID:Phelan 2001:11748841}" "" "" "" "" "" "0" "" "" "" "" "00112418" "" "" "" "1" "" "02152" "{PMID:Zhang 2001:11748852}" "" "" "" "" "" "0" "" "" "" "" "00112419" "" "" "" "1" "" "02152" "{PMID:Zhang 1998:9529340}" "" "" "" "" "" "0" "" "" "" "" "00112420" "" "" "" "6" "" "02152" "{PMID:Kinoshita 1997:9195207}" "3-generation fmily, 6 affecteds (6M), 2 unaffected heterozygous carrier females" "M" "" "Japan" "" "0" "" "" "" "09195207-Fam1Pat1" "00112421" "" "" "" "1" "" "02152" "{PMID:Peter 1998:9709929}" "" "" "" "" "" "0" "" "" "" "" "00112422" "" "" "" "1" "" "02152" "{PMID:Domenice 2001:11549627}" "" "" "" "" "" "0" "" "" "" "" "00112423" "" "" "" "1" "" "02152" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00112424" "" "" "" "1" "" "02152" "{PMID:Reutens 1999:10022408}" "" "" "" "" "" "0" "" "" "" "" "00112425" "" "" "" "1" "" "02152" "{PMID:Zhang 1998:9529340}" "" "" "" "" "" "0" "" "" "" "" "00112426" "" "" "" "1" "" "02152" "{PMID:Binder 2000:10931108}" "" "" "" "" "" "0" "" "" "" "" "00112427" "" "" "" "1" "" "02152" "{PMID:Phelan 2001:11748841}" "" "" "" "" "" "0" "" "" "" "" "00112428" "" "" "" "1" "" "02152" "{PMID:Zhang 2001:11748852}" "" "" "" "" "" "0" "" "" "" "" "00112429" "" "" "" "1" "" "02152" "{PMID:Zhang 1998:9529340}" "" "" "" "" "" "0" "" "" "" "" "00112430" "" "" "" "1" "" "02152" "{PMID:Peter 1998:9709929}" "" "" "" "" "" "0" "" "" "" "" "00112431" "" "" "" "1" "" "02152" "{PMID:Binder 2000:10931108}" "" "" "" "" "" "0" "" "" "" "" "00112432" "" "" "" "28" "" "00006" "{PMID:Tarpey 2009:19377476}" "for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "M" "" "" "" "0" "" "" "" "" "00112433" "" "" "" "1" "" "02152" "{PMID:Zhang 1998:9529340}" "" "" "" "" "" "0" "" "" "" "" "00112434" "" "" "" "1" "" "02152" "{PMID:Reutens 1999:10022408}" "" "" "" "" "" "0" "" "" "" "" "00112435" "" "" "" "1" "" "02152" "{PMID:Zhang 1998:9529340}" "" "M" "" "United States" "" "0" "" "" "" "" "00112436" "" "" "" "1" "" "02152" "{PMID:Yanase 1996:8636263}; {OMIM300473:0006}" "" "M" "" "Korea" "" "0" "" "" "" "" "00112437" "" "" "" "1" "" "02152" "{PMID:Muscatelli 1994:7990958}" "" "" "" "" "" "0" "" "" "" "" "00112438" "" "" "" "1" "" "02152" "{PMID:Zhang 1998:9529340}" "" "M" "" "Japan" "" "0" "" "" "" "" "00112439" "" "" "" "1" "" "02152" "{PMID:Zhang 1998:9529340}" "" "" "" "" "" "0" "" "" "" "" "00112440" "" "" "" "1" "" "02152" "{PMID:Zanaria 1994:7990953}" "" "" "" "" "" "0" "" "" "" "" "00112441" "" "" "" "1" "" "02152" "{PMID:Peter 1998:9709929}" "" "" "" "" "" "0" "" "" "" "" "00112442" "" "" "" "1" "" "02152" "{PMID:Bassett 1999:10341858}" "" "" "" "" "" "0" "" "" "" "" "00112443" "" "" "" "1" "" "02152" "{PMID:Muscatelli 1994:7990958}" "" "" "" "" "" "0" "" "" "" "" "00112444" "" "" "" "1" "" "02152" "{PMID:Muscatelli 1994:7990958}" "" "" "" "" "" "0" "" "" "" "" "00112445" "" "" "" "1" "" "02152" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00112446" "" "" "" "1" "" "02152" "{PMID:Peter 1998:9709929}" "" "" "" "" "" "0" "" "" "" "" "00112447" "" "" "" "1" "" "02152" "{PMID:Caron 1999:10522996}" "" "" "" "" "" "0" "" "" "" "" "00112448" "" "" "" "1" "" "02152" "{PMID:Kinoshita 1997:9195207}" "" "M" "" "Japan" "" "0" "" "" "" "09195207-Pat4" "00112449" "" "" "" "1" "" "02152" "{PMID:Zhang 2001:11748852}" "" "" "" "" "" "0" "" "" "" "" "00112450" "" "" "" "1" "" "02152" "{PMID:Zhang 1998:9529340}" "" "" "" "" "" "0" "" "" "" "" "00112451" "" "" "" "1" "" "02152" "{PMID:Reutens 1999:10022408}" "" "" "" "" "" "0" "" "" "" "" "00112452" "" "" "" "1" "" "02152" "{PMID:Muscatelli 1994:7990958}; {OMIM300473:0005}" "" "M" "" "" "" "0" "" "" "" "" "00112453" "" "" "" "1" "" "02152" "{PMID:Zanaria 1994:7990953}" "" "" "" "" "" "0" "" "" "" "" "00112454" "" "" "" "1" "" "02152" "{PMID:Zhang 1998:9529340}" "" "M" "" "United States" "" "0" "" "" "" "" "00112455" "" "" "" "1" "" "02152" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00112456" "" "" "" "1" "" "02152" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00112457" "" "" "" "1" "" "02152" "{PMID:Zanaria 1994:7990953}" "" "" "" "" "" "0" "" "" "" "" "00112458" "" "" "" "1" "" "02152" "{PMID:Zhang 1998:9529340}" "" "" "" "" "" "0" "" "" "" "" "00112459" "" "" "" "1" "" "02152" "{PMID:Zhang 1998:9529340}" "" "" "" "" "" "0" "" "" "" "" "00112460" "" "" "" "1" "" "02152" "{PMID:Phelan 2001:11748841}" "" "" "" "" "" "0" "" "" "" "" "00112461" "" "" "" "1" "" "02152" "{PMID:Achermann 2001:11443184}" "" "" "" "" "" "0" "" "" "" "" "00112462" "" "" "" "1" "" "02152" "{PMID:Muscatelli 1994:7990958}; {OMIM300473:0003}" "" "" "" "" "" "0" "" "" "" "" "00112463" "" "" "" "2" "" "02152" "{PMID:Muscatelli 1994:7990958}; {OMIM300473:0004}" "2 brothers" "" "" "" "" "0" "" "" "" "" "00112464" "" "" "" "1" "" "02152" "{PMID:Muscatelli 1994:7990958}" "" "" "" "" "" "0" "" "" "" "" "00112465" "" "" "" "1" "" "02152" "{PMID:Zhang 1998:9529340}" "" "M" "" "United States" "" "0" "" "" "" "" "00112466" "" "" "" "1" "" "02152" "{PMID:Nakae 1996:8855822}; {OMIM300473:0010}" "" "" "" "" "" "0" "" "" "" "" "00112467" "" "" "" "1" "" "02152" "{PMID:Bassett 1999:10341858}" "" "" "" "" "" "0" "" "" "" "" "00112468" "" "" "" "1" "" "02152" "{PMID:Yanase 1996:8636263}; {OMIM300473:0007}" "" "M" "" "Japan" "" "0" "" "" "" "" "00112469" "" "" "" "1" "" "02152" "{PMID:Muscatelli 1994:7990958}; {OMIM300473:0001}" "" "M" "" "" "" "0" "" "" "" "" "00112470" "" "" "" "1" "" "02152" "{PMID:Franzese 2005:15800903}" "" "" "" "" "" "0" "" "" "" "" "00112471" "" "" "" "1" "" "02152" "{PMID:Nakae 1997:9360549}; {OMIM300473:0017}" "" "" "" "" "" "0" "" "" "" "" "00112472" "" "" "" "1" "" "02152" "{PMID:Zhang 2001:11748852}" "" "" "" "" "" "0" "" "" "" "" "00112473" "" "" "" "1" "" "02152" "{PMID:Brown 2003:12629128}" "" "" "" "" "" "0" "" "" "" "" "00112474" "" "" "" "1" "" "02152" "{PMID:Achermann 2001:11443184}" "" "" "" "" "" "0" "" "" "" "" "00112475" "" "" "" "1" "" "02152" "{PMID:Takahashi 1997:9063431}" "" "" "" "" "" "0" "" "" "" "" "00112476" "" "" "" "1" "" "02152" "{PMID:Zhang 2001:11748852}" "" "" "" "" "" "0" "" "" "" "" "00112477" "" "" "" "1" "" "02152" "{PMID:Nakae 1996:8855822}; {OMIM300473:0013}" "" "" "" "" "" "0" "" "" "" "" "00112478" "" "" "" "1" "" "02152" "{PMID:Zhang 1998:9529340}" "" "" "" "" "" "0" "" "" "" "" "00112479" "" "" "" "1" "" "02152" "{PMID:Habiby 1996:8770879}" "" "" "" "" "" "0" "" "" "" "" "00112480" "" "" "" "1" "" "02152" "{PMID:Kinoshita 1997:9195207}" "3-generation family, 1 affected" "M" "" "Japan" "" "0" "" "" "" "09195207-Fam2Pat2" "00112481" "" "" "" "1" "" "02152" "{PMID:Zhang 1998:9529340}" "" "" "" "" "" "0" "" "" "" "" "00112482" "" "" "" "1" "" "02152" "{PMID:Muscatelli 1994:7990958}; {OMIM300473:0002}" "" "" "" "" "" "0" "" "" "" "" "00112483" "" "" "" "1" "" "02152" "{PMID:Zhang 1998:9529340}" "" "" "" "" "" "0" "" "" "" "" "00112484" "" "" "" "1" "" "02152" "{PMID:Zhang 2001:11748852}" "" "" "" "" "" "0" "" "" "" "" "00112485" "" "" "" "1" "" "02152" "{PMID:Achermann 2000:11113848}" "" "" "" "" "" "0" "" "" "" "" "00112486" "" "" "" "1" "" "02152" "{PMID:Zhang 2001:11748852}" "" "" "" "" "" "0" "" "" "" "" "00112487" "" "" "" "1" "" "02152" "{PMID:Nakae 1997:9360549}; {OMIM300473:0016}" "" "" "" "" "" "0" "" "" "" "" "00112488" "" "" "" "1" "" "02152" "{PMID:Zhang 1998:9529340}" "" "" "" "" "" "0" "" "" "" "" "00112489" "" "" "" "1" "" "02152" "" "" "" "" "" "" "0" "" "" "" "" "00112490" "" "" "" "1" "" "02152" "{PMID:Peter 1998:9709929}" "" "" "" "" "" "0" "" "" "" "" "00112491" "" "" "" "1" "" "02152" "{PMID:Salvi 2002:12213854}" "mother carrier" "M" "" "United States" "" "0" "" "" "" "" "00112492" "" "" "" "1" "" "02152" "" "" "" "" "" "" "0" "" "" "" "" "00112493" "" "" "" "1" "" "02152" "" "" "" "" "" "" "0" "" "" "" "" "00112494" "" "" "" "1" "" "02152" "{PMID:Nakae 1996:8855822}; {OMIM300473:0009}" "" "M" "" "Japan" "" "0" "" "" "" "" "00112495" "" "" "" "1" "" "02152" "{PMID:Reutens 1999:10022408}" "" "" "" "" "" "0" "" "" "" "" "00112496" "" "" "" "1" "" "02152" "" "" "" "" "" "" "0" "" "" "" "" "00112497" "" "" "" "1" "" "02152" "{PMID:Wang 1999:10361383}" "" "" "" "" "" "0" "" "" "" "" "00112498" "" "" "" "1" "" "02152" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00112499" "" "" "" "1" "" "02152" "{PMID:Habiby 1996:8770879}" "" "" "" "" "" "0" "" "" "" "" "00112500" "" "" "" "1" "" "02152" "{PMID:Peter 1998:9709929}" "" "" "" "" "" "0" "" "" "" "" "00112501" "" "" "" "1" "" "02152" "{PMID:Guo 1996:8675564}" "" "" "" "" "" "0" "" "" "" "" "00112502" "" "" "" "1" "" "02152" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00112503" "" "" "" "1" "" "02152" "{PMID:Zhang 1998:9529340}" "" "" "" "" "" "0" "" "" "" "" "00112504" "" "" "" "1" "" "02152" "{PMID:Achermann 2001:11443184}" "" "" "" "" "" "0" "" "" "" "" "00112505" "" "" "" "1" "" "02152" "{PMID:Zhang 2001:11748852}" "" "" "" "" "" "0" "" "" "" "" "00112506" "" "" "" "1" "" "02152" "{PMID:Balsamo 2005:15884018}" "" "" "" "" "" "0" "" "" "" "" "00112507" "" "" "" "1" "" "02152" "{PMID:Guo 1995:7609262}" "" "" "" "" "" "0" "" "" "" "" "00112508" "" "" "" "1" "" "02152" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00112509" "" "" "" "1" "" "02152" "{PMID:Argente 2003:12559852}" "" "" "" "" "" "0" "" "" "" "" "00112510" "" "" "" "1" "" "02152" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00112511" "" "" "" "1" "" "02152" "{PMID:Tabarin 2000:10675358}" "" "" "" "" "" "0" "" "" "" "" "00112512" "" "" "" "1" "" "02152" "{PMID:Schwartz 1997:9003500}; {PMID:Petersen 1982:6891556}; {PMID:Lalli 2000:10848616}; {OMIM300473:0008}" "5 patients, 10 carrier females" "M" "" "Greenland" "" "0" "" "" "" "" "00112513" "" "" "" "1" "" "02152" "Wasniewska 2001 JEndocrGenet" "" "" "" "" "" "0" "" "" "" "" "00112514" "" "" "" "1" "" "00006" "{PMID:Mueller 2010:20108433}" "" "M" "" "" "" "0" "" "" "" "" "00112515" "" "" "" "1" "" "02152" "{PMID:Nakae 1996:8855822}" "" "" "" "" "" "0" "" "" "" "" "00112516" "" "" "" "1" "" "02152" "{PMID:Nakae 1996:8855822} {OMIM300473:0012}" "" "" "" "" "" "0" "" "" "" "" "00112517" "" "" "" "1" "" "02152" "{PMID:Abe 1999:10323730}" "" "" "" "" "" "0" "" "" "" "" "00112518" "" "" "" "1" "" "02152" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00143753" "" "" "" "1" "" "00006" "{PMID:Oshima 2009:19449031}" "family, carrier mother, fetus" "M" "" "United States" "" "0" "" "" "" "19449031-PatCo2" "00239779" "" "" "" "1" "" "03315" "{PMID:Loke 2009:19339795}, {PMID:Tomar 2019:31081998}" "" "M" "no" "Singapore" "" "0" "" "" "" "patient/Case 45" "00289039" "" "" "" "1" "" "00006" "{PMID:Korkut 2016:27087023}" "" "M" "" "Turkey" "" "0" "" "" "" "Case1" "00289040" "" "" "" "1" "" "00006" "{PMID:Korkut 2016:27087023}" "" "M" "" "Turkey" "" "0" "" "" "" "case2" "00289438" "" "" "" "1" "" "00006" "{PMID:Heide 2015:25917374}" "" "F" "" "France" "" "0" "" "" "" "Pat1" "00289439" "" "" "" "1" "" "00006" "{PMID:Heide 2015:25917374}" "" "F" "" "France" "" "0" "" "" "" "Pat2" "00308774" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00359578" "" "" "" "1" "" "01164" "" "" "M" "?" "Hungary" "" "0" "" "" "" "177428" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 167 "{{individualid}}" "{{diseaseid}}" "00029662" "02144" "00029662" "04147" "00029663" "00139" "00029663" "02144" "00029663" "02239" "00029664" "00139" "00029664" "02144" "00029665" "00139" "00029665" "02144" "00034404" "00187" "00034404" "02144" "00034404" "02239" "00034406" "00187" "00034406" "02144" "00034406" "02239" "00034407" "00187" "00034407" "02144" "00034407" "02239" "00034408" "00187" "00034408" "02144" "00034408" "02239" "00034409" "00187" "00034409" "02239" "00034411" "00187" "00034411" "02144" "00034411" "02239" "00034412" "00187" "00034412" "02144" "00034412" "02239" "00034413" "00187" "00034413" "02144" "00034413" "02239" "00034414" "00187" "00034414" "02144" "00034414" "02239" "00034415" "00187" "00034415" "02144" "00034415" "02239" "00034417" "00187" "00034418" "00187" "00034418" "02144" "00034418" "02239" "00112403" "02144" "00112404" "02144" "00112405" "02144" "00112406" "02144" "00112407" "00187" "00112408" "02144" "00112409" "02144" "00112410" "02144" "00112411" "02144" "00112412" "02144" "00112413" "02144" "00112414" "02144" "00112415" "02144" "00112416" "02144" "00112417" "02144" "00112418" "02144" "00112419" "02144" "00112420" "02144" "00112421" "02144" "00112422" "02144" "00112423" "02144" "00112424" "02144" "00112425" "02144" "00112426" "02144" "00112427" "02144" "00112428" "02144" "00112429" "02144" "00112430" "02144" "00112431" "02144" "00112432" "00187" "00112433" "02144" "00112434" "02144" "00112435" "02144" "00112436" "02144" "00112437" "02144" "00112438" "02144" "00112439" "02144" "00112440" "02144" "00112441" "02144" "00112442" "02144" "00112443" "02144" "00112444" "02144" "00112445" "02144" "00112446" "02144" "00112447" "02144" "00112448" "02144" "00112449" "02144" "00112450" "02144" "00112451" "02144" "00112452" "02144" "00112453" "02144" "00112454" "02144" "00112455" "02144" "00112456" "02144" "00112457" "02144" "00112458" "02144" "00112459" "02144" "00112460" "02144" "00112461" "02144" "00112462" "02144" "00112463" "02144" "00112464" "02144" "00112465" "02144" "00112466" "02144" "00112467" "02144" "00112468" "02144" "00112469" "02144" "00112470" "02144" "00112471" "02144" "00112472" "02144" "00112473" "02144" "00112474" "02144" "00112475" "02144" "00112476" "02144" "00112477" "02144" "00112478" "02144" "00112479" "02144" "00112480" "02144" "00112481" "02144" "00112482" "02144" "00112483" "02144" "00112484" "02144" "00112485" "02144" "00112486" "02144" "00112487" "02144" "00112488" "02144" "00112489" "00198" "00112490" "02144" "00112491" "00198" "00112492" "00198" "00112493" "00198" "00112494" "02144" "00112495" "02144" "00112496" "00198" "00112497" "02144" "00112498" "02144" "00112499" "02144" "00112500" "02144" "00112501" "02144" "00112502" "02144" "00112503" "02144" "00112504" "02144" "00112505" "02144" "00112506" "02144" "00112507" "02144" "00112508" "02144" "00112509" "02144" "00112510" "02144" "00112511" "00198" "00112512" "02144" "00112513" "02144" "00112514" "02144" "00112515" "02144" "00112516" "02144" "00112517" "02144" "00112518" "02144" "00239779" "02144" "00239779" "02239" "00239779" "05324" "00289039" "00198" "00289040" "00198" "00289438" "00139" "00289439" "00139" "00308774" "00000" "00359578" "02144" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00187, 00198, 02137, 02144, 02239, 04147, 05324 ## Count = 174 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000025679" "04147" "00029662" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025680" "02144" "00029662" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025681" "02144" "00029663" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025682" "02239" "00029663" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025683" "00139" "00029663" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025684" "02144" "00029664" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025685" "00139" "00029664" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025686" "02144" "00029665" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025687" "00139" "00029665" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028017" "02239" "00034409" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028018" "00187" "00034409" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028019" "02144" "00034408" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028020" "02239" "00034408" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028021" "00187" "00034408" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028022" "02144" "00034411" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028023" "02239" "00034411" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028024" "00187" "00034411" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028025" "00187" "00034412" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028026" "02239" "00034412" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028027" "02144" "00034412" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028028" "02144" "00034413" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028029" "02239" "00034413" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028030" "00187" "00034413" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028031" "02144" "00034414" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028032" "02239" "00034414" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028033" "00187" "00034414" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028034" "02144" "00034415" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028035" "02239" "00034415" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028036" "00187" "00034415" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028037" "02144" "00034404" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028038" "02239" "00034404" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028039" "00187" "00034404" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028040" "02144" "00034407" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028041" "02239" "00034407" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028042" "00187" "00034407" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000035808" "02144" "00034418" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000035809" "02239" "00034418" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000035810" "00187" "00034418" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000035811" "00187" "00034417" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087967" "02144" "00112403" "02152" "Unknown" "" "phenotype inlcudes GKD; adrenal hypoplasia, congenital (OMIM300200);Glycerol kinase deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000087968" "02144" "00112404" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087969" "02144" "00112405" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087970" "02144" "00112406" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087971" "00187" "00112407" "00006" "Familial" "" "mental retardation, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000087972" "02144" "00112408" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087973" "02144" "00112409" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087974" "02144" "00112410" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087975" "02144" "00112411" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087976" "02144" "00112412" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087977" "02144" "00112413" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087978" "02144" "00112414" "02152" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087979" "02144" "00112415" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087980" "02144" "00112416" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087981" "02144" "00112417" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087982" "02144" "00112418" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087983" "02144" "00112419" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087984" "02144" "00112420" "02152" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087985" "02144" "00112421" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087986" "02144" "00112422" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087987" "02144" "00112423" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087988" "02144" "00112424" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087989" "02144" "00112425" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087990" "02144" "00112426" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087991" "02144" "00112427" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087992" "02144" "00112428" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087993" "02144" "00112429" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087994" "02144" "00112430" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087995" "02144" "00112431" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087996" "00187" "00112432" "00006" "Unknown" "" "mental retardation, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000087997" "02144" "00112433" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087998" "02144" "00112434" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087999" "02144" "00112435" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088000" "02144" "00112436" "02152" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088001" "02144" "00112437" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088002" "02144" "00112438" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088003" "02144" "00112439" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088004" "02144" "00112440" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088005" "02144" "00112441" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088006" "02144" "00112442" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088007" "02144" "00112443" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088008" "02144" "00112444" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088009" "02144" "00112445" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088010" "02144" "00112446" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088011" "02144" "00112447" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088012" "02144" "00112448" "02152" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088013" "02144" "00112449" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088014" "02144" "00112450" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088015" "02144" "00112451" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088016" "02144" "00112452" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088017" "02144" "00112453" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088018" "02144" "00112454" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088019" "02144" "00112455" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088020" "02144" "00112456" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088021" "02144" "00112457" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088022" "02144" "00112458" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088023" "02144" "00112459" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088024" "02144" "00112460" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088025" "02144" "00112461" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088026" "02144" "00112462" "02152" "Unknown" "" "onset 8d" "" "" "" "" "" "" "" "" "" "" "" "" "0000088027" "02144" "00112463" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088028" "02144" "00112464" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088029" "02144" "00112465" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088030" "02144" "00112466" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088031" "02144" "00112467" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088032" "02144" "00112468" "02152" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088033" "02144" "00112469" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088034" "02144" "00112470" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088035" "02144" "00112471" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088036" "02144" "00112472" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088037" "02144" "00112473" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088038" "02144" "00112474" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088039" "02144" "00112475" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088040" "02144" "00112476" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088041" "02144" "00112477" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088042" "02144" "00112478" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088043" "02144" "00112479" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088044" "02144" "00112480" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088045" "02144" "00112481" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088046" "02144" "00112482" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088047" "02144" "00112483" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088048" "02144" "00112484" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088049" "02144" "00112485" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088050" "02144" "00112486" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088051" "02144" "00112487" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088052" "02144" "00112488" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088053" "00198" "00112489" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088054" "02144" "00112490" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088055" "00198" "00112491" "02152" "Unknown" "" "Adrenal insufficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000088056" "00198" "00112492" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088057" "00198" "00112493" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088058" "02144" "00112494" "02152" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088059" "02144" "00112495" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088060" "00198" "00112496" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088061" "02144" "00112497" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088062" "02144" "00112498" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088063" "02144" "00112499" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088064" "02144" "00112500" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088065" "02144" "00112501" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088066" "02144" "00112502" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088067" "02144" "00112503" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088068" "02144" "00112504" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088069" "02144" "00112505" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088070" "02144" "00112506" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088071" "02144" "00112507" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088072" "02144" "00112508" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088073" "02144" "00112509" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088074" "02144" "00112510" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088075" "00198" "00112511" "02152" "Unknown" "" "Adrenal insufficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000088076" "02144" "00112512" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088077" "02144" "00112513" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088078" "02144" "00112514" "00006" "Unknown" "" "3y-speech delay" "" "" "" "" "" "" "" "" "" "" "" "" "0000088079" "02144" "00112515" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088080" "02144" "00112516" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088081" "02144" "00112517" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088082" "02144" "00112518" "02152" "Unknown" "" "adrenal hypoplasia, congenital (OMIM300200)?" "" "" "" "" "" "" "" "" "" "" "" "" "0000092791" "05324" "00034404" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "" "0000092793" "05324" "00034406" "00006" "Unknown" "" "intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "" "0000092794" "05324" "00034407" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "" "0000092795" "05324" "00034408" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "" "0000092796" "05324" "00034409" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "" "0000092798" "05324" "00034411" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "" "0000092799" "05324" "00034412" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "" "0000092800" "05324" "00034413" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "" "0000092801" "05324" "00034414" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "" "0000092802" "05324" "00034415" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "" "0000092804" "05324" "00034417" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "" "0000092805" "05324" "00034418" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "" "0000116523" "05324" "00143753" "00006" "Familial, X-linked recessive" "" "fetus" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "" "0000179993" "02144" "00239779" "00006" "Unknown" "16y" "see paper; ..., Duchenne muscular dystrophy, glycerol kinase deficiency; 6y-central precocious puberty" "" "" "" "" "" "" "" "" "" "DMD;AHC;GKD" "" "" "0000222673" "00198" "00289039" "00006" "Familial, autosomal recessive" "" "see paper; ..., 36d-difficulty to feed, vomiting, weight loss; similarly affected brother died at 7m" "" "" "" "" "" "" "" "" "" "GKD, AHC, DMD" "" "" "0000222674" "00198" "00289040" "00006" "Unknown" "" "see paper; ..., 18d- reduced breastfeeding, vomiting, weight loss" "" "" "" "" "" "" "" "" "" "GKD, AHC, DMD" "" "" "0000223048" "00139" "00289438" "00006" "Isolated (sporadic)" "07y" "pregnancy marked by breakthrough bleeding during first trimester, prenatal ultrasound examination normal; birth 39w, normal measurements; neonatal period uneventful; sit-9m, walk-18m initially difficult with frequent falls; expressive language delayed; hyperopia, multiple serous otitis; 7y-WISC low scores intellectual quotient (50-63); 7y-normal growth height, weight and head circumference; able to write name, recognize alphabet letters; mild joint laxity, no dysmorphic features, no motor deficiency; normal serum CK level; ECG normal, cardiac ultrasound normal, MRI brain normal" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000223049" "00139" "00289439" "00006" "Unknown" "16y" "uneventful pregnancy; normal birth measurements; sit-10m, walk-18m; language delayed, 5y-first words; 11y-not able to read or write; 10y-muscular pains during physical exercises, initially on feet, extending to legs and hands, associated with severe muscular fatigue; no motor deficiency, morphology \'athletic\', global muscular hypertrophy; elevated CK (579 U/l, normal <160 U/l); no myoglobinuria, ECM myogenic pattern, muscle biopsy indicated non-specific histology; ECG and cardiac ultrasound normal; 16y-generalized epilepsy response to monotherapy; MRI brain normal; no dysmorphic features" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000254836" "02144" "00359578" "01164" "Unknown" "00y02m" "(+) Apathy,(+) Small for gestational age,(+) Hypoglycemia,(+) Dehydration,(+) Neonatal hypoglycemia,(+) Vomiting,(+) Nausea and vomiting,(+) Poor suck,(+) Hyperkalemia,(+) Hyponatremia,(+) Hyperbilirubinemia,(+) Muscle spasm,(+) Fatigable weakness,(+) Hypocapnia" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 140 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029705" "00029662" "1" "00006" "00006" "2015-01-25 22:49:42" "" "" "PCR" "DNA" "" "" "0000029706" "00029663" "1" "00006" "00006" "2015-01-25 23:19:09" "" "" "PCR" "DNA" "" "" "0000029707" "00029664" "1" "00006" "00006" "2015-01-25 23:34:12" "" "" "PCR" "DNA" "" "" "0000029708" "00029665" "1" "00006" "00006" "2015-01-25 23:48:10" "" "" "PCR" "DNA" "" "" "0000034471" "00034404" "1" "00006" "00006" "2008-10-05 18:34:50" "00006" "2013-05-17 14:43:46" "PCR" "DNA" "" "" "0000034473" "00034406" "1" "00006" "00006" "2008-10-05 18:34:50" "00006" "2013-05-17 14:43:46" "PCR" "DNA" "" "" "0000034474" "00034407" "1" "00006" "00006" "2008-10-05 18:34:50" "00006" "2013-05-17 14:43:46" "PCR" "DNA" "" "" "0000034475" "00034408" "1" "00006" "00006" "2008-10-05 18:34:50" "00006" "2013-05-17 14:43:46" "PCR" "DNA" "" "" "0000034476" "00034409" "1" "00006" "00006" "2008-10-05 18:34:50" "00006" "2013-05-17 14:43:46" "PCR" "DNA" "" "" "0000034478" "00034411" "1" "00006" "00006" "2008-10-05 18:34:50" "00006" "2013-05-17 14:25:16" "PCR" "DNA" "" "" "0000034479" "00034412" "1" "00006" "00006" "2008-10-05 18:34:50" "00006" "2013-05-17 14:25:16" "PCR" "DNA" "" "" "0000034480" "00034413" "1" "00006" "00006" "2008-10-05 18:34:50" "00006" "2013-05-17 14:25:16" "PCR" "DNA" "" "" "0000034481" "00034414" "1" "00006" "00006" "2008-10-05 18:34:50" "00006" "2013-05-17 14:25:16" "PCR" "DNA" "" "" "0000034482" "00034415" "1" "00006" "00006" "2008-10-05 18:34:50" "00006" "2013-05-17 14:25:16" "PCR" "DNA" "" "" "0000034484" "00034417" "1" "00006" "00006" "2009-03-20 17:08:02" "00006" "2013-05-17 14:43:46" "MLPA" "DNA" "" "" "0000034485" "00034418" "1" "00006" "00006" "2009-03-20 17:08:02" "00006" "2013-05-17 14:43:46" "MLPA" "DNA" "" "" "0000112861" "00112403" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:48:48" "SEQ" "DNA" "" "" "0000112862" "00112404" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112863" "00112405" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112864" "00112406" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112865" "00112407" "1" "00006" "00006" "2009-05-17 13:01:08" "00006" "2011-01-24 22:48:03" "SEQ" "DNA" "" "" "0000112866" "00112408" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112867" "00112409" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112868" "00112410" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112869" "00112411" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112870" "00112412" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112871" "00112413" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112872" "00112414" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112873" "00112415" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112874" "00112416" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112875" "00112417" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112876" "00112418" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112877" "00112419" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112878" "00112420" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112879" "00112421" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112880" "00112422" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112881" "00112423" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112882" "00112424" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112883" "00112425" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112884" "00112426" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112885" "00112427" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112886" "00112428" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112887" "00112429" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112888" "00112430" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112889" "00112431" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112890" "00112432" "1" "00006" "00006" "2009-05-17 13:01:08" "00006" "2011-01-24 22:48:03" "SEQ" "DNA" "" "" "0000112891" "00112433" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112892" "00112434" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112893" "00112435" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SSCA" "DNA" "" "" "0000112894" "00112436" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112895" "00112437" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112896" "00112438" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112897" "00112439" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112898" "00112440" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112899" "00112441" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112900" "00112442" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112901" "00112443" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112902" "00112444" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112903" "00112445" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112904" "00112446" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112905" "00112447" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112906" "00112448" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112907" "00112449" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112908" "00112450" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112909" "00112451" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112910" "00112452" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112911" "00112453" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112912" "00112454" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SSCA" "DNA" "" "" "0000112913" "00112455" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112914" "00112456" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112915" "00112457" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112916" "00112458" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112917" "00112459" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112918" "00112460" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112919" "00112461" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112920" "00112462" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112921" "00112463" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112922" "00112464" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112923" "00112465" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SSCA" "DNA" "" "" "0000112924" "00112466" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112925" "00112467" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112926" "00112468" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112927" "00112469" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112928" "00112470" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112929" "00112471" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112930" "00112472" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112931" "00112473" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112932" "00112474" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112933" "00112475" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112934" "00112476" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112935" "00112477" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112936" "00112478" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112937" "00112479" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112938" "00112480" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112939" "00112481" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112940" "00112482" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112941" "00112483" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112942" "00112484" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112943" "00112485" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112944" "00112486" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112945" "00112487" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112946" "00112488" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112947" "00112489" "1" "02152" "02152" "2007-12-01 15:34:23" "" "" "SEQ" "DNA" "" "" "0000112948" "00112490" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112949" "00112491" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2007-12-01 15:36:03" "PCR;SEQ;Southern" "DNA" "" "" "0000112950" "00112492" "1" "02152" "02152" "2007-12-01 15:34:23" "" "" "SEQ" "DNA" "" "" "0000112951" "00112493" "1" "02152" "02152" "2007-12-01 15:34:23" "" "" "SEQ" "DNA" "" "" "0000112952" "00112494" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112953" "00112495" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112954" "00112496" "1" "02152" "02152" "2007-12-01 15:34:23" "" "" "SEQ" "DNA" "" "" "0000112955" "00112497" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112956" "00112498" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112957" "00112499" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112958" "00112500" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112959" "00112501" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112960" "00112502" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112961" "00112503" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112962" "00112504" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112963" "00112505" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112964" "00112506" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112965" "00112507" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112966" "00112508" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112967" "00112509" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112968" "00112510" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112969" "00112511" "1" "02152" "02152" "2007-12-01 15:34:23" "" "" "SEQ" "DNA" "" "" "0000112970" "00112512" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112971" "00112513" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112972" "00112514" "1" "00006" "00006" "2010-03-25 22:12:48" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112973" "00112515" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112974" "00112516" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112975" "00112517" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000112976" "00112518" "1" "02152" "02152" "2007-12-01 15:34:23" "00006" "2011-01-24 22:47:19" "SEQ" "DNA" "" "" "0000144611" "00143753" "1" "00006" "00006" "2017-12-04 20:44:06" "" "" "arrayCGH;MLPA" "DNA" "" "" "0000240882" "00239779" "1" "00006" "00006" "2019-06-09 10:30:04" "" "" "PCR" "DNA" "" "" "0000290208" "00289039" "1" "00006" "00006" "2020-02-25 21:39:48" "" "" "arrayCGH" "DNA" "" "" "0000290209" "00289040" "1" "00006" "00006" "2020-02-25 21:52:07" "" "" "arrayCGH" "DNA" "" "" "0000290607" "00289438" "1" "00006" "00006" "2020-03-09 19:48:10" "" "" "arrayCNV" "DNA" "" "Illumina CytoSNP12 microarray" "0000290608" "00289439" "1" "00006" "00006" "2020-03-09 20:41:35" "" "" "arrayCNV" "DNA" "" "Illumina CytoSNP12 microarray" "0000309919" "00308774" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000360806" "00359578" "1" "01164" "01164" "2021-03-26 11:08:03" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 186 "{{screeningid}}" "{{geneid}}" "0000029705" "IL1RAPL1" "0000029705" "NR0B1" "0000029706" "GK" "0000029706" "IL1RAPL1" "0000029706" "NR0B1" "0000029707" "IL1RAPL1" "0000029707" "NR0B1" "0000029708" "IL1RAPL1" "0000029708" "NR0B1" "0000034471" "DMD" "0000034471" "GK" "0000034471" "IL1RAPL1" "0000034471" "NR0B1" "0000034473" "DMD" "0000034473" "GK" "0000034473" "IL1RAPL1" "0000034473" "NR0B1" "0000034474" "DMD" "0000034474" "GK" "0000034474" "IL1RAPL1" "0000034474" "NR0B1" "0000034475" "DMD" "0000034475" "GK" "0000034475" "IL1RAPL1" "0000034475" "NR0B1" "0000034476" "DMD" "0000034476" "GK" "0000034476" "NR0B1" "0000034478" "ARX" "0000034478" "DMD" "0000034478" "GK" "0000034478" "IL1RAPL1" "0000034478" "NR0B1" "0000034479" "DMD" "0000034479" "GK" "0000034479" "IL1RAPL1" "0000034479" "NR0B1" "0000034480" "DMD" "0000034480" "GK" "0000034480" "IL1RAPL1" "0000034480" "NR0B1" "0000034481" "DMD" "0000034481" "GK" "0000034481" "IL1RAPL1" "0000034481" "NR0B1" "0000034482" "DMD" "0000034482" "GK" "0000034482" "IL1RAPL1" "0000034482" "NR0B1" "0000034484" "DMD" "0000034484" "GK" "0000034484" "IL1RAPL1" "0000034484" "NR0B1" "0000034485" "DMD" "0000034485" "GK" "0000034485" "IL1RAPL1" "0000034485" "NR0B1" "0000112861" "NR0B1" "0000112862" "NR0B1" "0000112863" "NR0B1" "0000112864" "NR0B1" "0000112865" "NR0B1" "0000112866" "NR0B1" "0000112867" "NR0B1" "0000112868" "NR0B1" "0000112869" "NR0B1" "0000112870" "NR0B1" "0000112871" "NR0B1" "0000112872" "NR0B1" "0000112873" "NR0B1" "0000112874" "NR0B1" "0000112875" "NR0B1" "0000112876" "NR0B1" "0000112877" "NR0B1" "0000112878" "NR0B1" "0000112879" "NR0B1" "0000112880" "NR0B1" "0000112881" "NR0B1" "0000112882" "NR0B1" "0000112883" "NR0B1" "0000112884" "NR0B1" "0000112885" "NR0B1" "0000112886" "NR0B1" "0000112887" "NR0B1" "0000112888" "NR0B1" "0000112889" "NR0B1" "0000112890" "NR0B1" "0000112891" "NR0B1" "0000112892" "NR0B1" "0000112893" "NR0B1" "0000112894" "NR0B1" "0000112895" "NR0B1" "0000112896" "NR0B1" "0000112897" "NR0B1" "0000112898" "NR0B1" "0000112899" "NR0B1" "0000112900" "NR0B1" "0000112901" "NR0B1" "0000112902" "NR0B1" "0000112903" "NR0B1" "0000112904" "NR0B1" "0000112905" "NR0B1" "0000112906" "NR0B1" "0000112907" "NR0B1" "0000112908" "NR0B1" "0000112909" "NR0B1" "0000112910" "NR0B1" "0000112911" "NR0B1" "0000112912" "NR0B1" "0000112913" "NR0B1" "0000112914" "NR0B1" "0000112915" "NR0B1" "0000112916" "NR0B1" "0000112917" "NR0B1" "0000112918" "NR0B1" "0000112919" "NR0B1" "0000112920" "NR0B1" "0000112921" "NR0B1" "0000112922" "NR0B1" "0000112923" "NR0B1" "0000112924" "NR0B1" "0000112925" "NR0B1" "0000112926" "NR0B1" "0000112927" "NR0B1" "0000112928" "NR0B1" "0000112929" "NR0B1" "0000112930" "NR0B1" "0000112931" "NR0B1" "0000112932" "NR0B1" "0000112933" "NR0B1" "0000112934" "NR0B1" "0000112935" "NR0B1" "0000112936" "NR0B1" "0000112937" "NR0B1" "0000112938" "NR0B1" "0000112939" "NR0B1" "0000112940" "NR0B1" "0000112941" "NR0B1" "0000112942" "NR0B1" "0000112943" "NR0B1" "0000112944" "NR0B1" "0000112945" "NR0B1" "0000112946" "NR0B1" "0000112947" "NR0B1" "0000112948" "NR0B1" "0000112949" "NR0B1" "0000112950" "NR0B1" "0000112951" "NR0B1" "0000112952" "NR0B1" "0000112953" "NR0B1" "0000112954" "NR0B1" "0000112955" "NR0B1" "0000112956" "NR0B1" "0000112957" "NR0B1" "0000112958" "NR0B1" "0000112959" "NR0B1" "0000112960" "NR0B1" "0000112961" "NR0B1" "0000112962" "NR0B1" "0000112963" "NR0B1" "0000112964" "NR0B1" "0000112965" "NR0B1" "0000112966" "NR0B1" "0000112967" "NR0B1" "0000112968" "NR0B1" "0000112969" "NR0B1" "0000112970" "NR0B1" "0000112971" "NR0B1" "0000112972" "NR0B1" "0000112973" "NR0B1" "0000112974" "NR0B1" "0000112975" "NR0B1" "0000112976" "NR0B1" "0000144611" "DMD" "0000240882" "DMD" "0000240882" "GK" "0000240882" "NR0B1" "0000290208" "DMD" "0000290208" "GK" "0000290208" "IL1RAPL1" "0000290208" "NR0B1" "0000290209" "DMD" "0000290607" "DMD" "0000290608" "DMD" "0000309919" "NR0B1" "0000360806" "NR0B1" ## 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 = 170 "{{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}}" "0000053096" "0" "90" "X" "28315338" "30499568" "" "0" "00006" "NR0B1_000115" "g.(28315338_28315338)_(30327481_30671654)del" "" "{PMID:Carrie 1999:10471494}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000053098" "0" "90" "X" "28688850" "30943448" "" "0" "00006" "NR0B1_000112" "g.(28606165_28771534)_(30746860_31140035)del" "" "{PMID:Carrie 1999:10471494}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000053100" "0" "90" "X" "28981426" "30499568" "" "0" "00006" "NR0B1_000113" "g.(28807543_29155309)_(30327481_30671654)del" "" "{PMID:Carrie 1999:10471494}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000053102" "0" "90" "X" "29811101" "30499568" "" "0" "00006" "NR0B1_000114" "g.(29686622_29935580)_(30327481_30671654)del" "" "{PMID:Carrie 1999:10471494}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000061564" "0" "99" "X" "26820000" "33229674" "" "0" "00006" "DMD_040079" "g.(25040000_28600000)_(33229674_?)del" "" "{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}" "" "" "deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000061566" "0" "99" "X" "31137345" "33357726" "" "0" "00006" "DMD_050080" "g.(?_31137345)_(33357726_?)del" "" "{PMID:Zhang 2004:15300857}" "" "" "deletion incl. IL1RAPL1, NR0B1, GK" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_31119228)_(33339609_?)del" "" "pathogenic (recessive)" "" "0000061567" "0" "99" "X" "26820000" "33229674" "" "0" "00006" "DMD_040079" "g.(25040000_28600000)_(33229674_?)del" "" "{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}" "" "" "deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000061568" "0" "99" "X" "29270873" "33229674" "" "0" "00006" "DMD_040080" "g.(28606165_29935580)_(33229674_?)del" "" "{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}" "" "" "deletion incl. IL1RAPL1 (partial), NR0B1 (DAX1), GK, DMD" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000061569" "0" "99" "X" "30161000" "33229674" "" "0" "00006" "DMD_040081" "g.(30000000_30322000)_(33229674_?)del" "" "{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}" "" "" "deletion incl. NR0B1 (DAX1), GK, DMD" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000061571" "0" "99" "X" "25020000" "32270413" "" "0" "00006" "DMD_003417" "g.(?_25020000)_(32235181_32305645)del" "" "{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}" "" "" "deletion incl. ARX, IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial)" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000061572" "0" "99" "X" "31137345" "31920602" "" "0" "00006" "DMD_054880" "g.(?_31137345)_(31893491_31947712)del" "" "{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}" "" "" "deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD" "Unknown" "yes" "" "0" "" "" "g.(?_31119228)_(31875374_31929595)del" "" "pathogenic (recessive)" "" "0000061573" "0" "99" "X" "26920730" "31661043" "del" "0" "00006" "DMD_040078" "g.(25034000_28807460)_(31645980_31676106)del" "" "{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}" "" "" "deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial)" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000061574" "0" "99" "X" "26820000" "31260155" "" "0" "00006" "DMD_003416" "g.(25040000_28600000)_(31241239_31279071)del" "" "{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}" "" "" "deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial)" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000061575" "0" "99" "X" "26820000" "31260155" "" "0" "00006" "DMD_003416" "g.(25040000_28600000)_(31241239_31279071)del" "" "{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}" "" "" "deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial)" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000061578" "1" "99" "X" "26750000" "35178863" "" "0" "00006" "DMD_003415" "g.(25000000_28500000)_(33357726_37000000)del" "" "{PMID:Piko 2009:19084397}" "" "" "ARX/PRRG1 present, IL1RAPL1, NR0B1, GK deleted" "Germline" "-" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000061579" "1" "99" "X" "26750000" "35178863" "" "0" "00006" "DMD_003415" "g.(25000000_28500000)_(33357726_37000000)del" "" "{PMID:Piko 2009:19084397}" "" "" "ARX/PRRG1 present, IL1RAPL1, NR0B1, GK deleted" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000181563" "1" "50" "X" "30322836" "30322836" "subst" "0" "02152" "NR0B1_000051" "g.30322836T>C" "" "{PMID:Zhang 1998:9529340}" "" "" "" "Germline" "" "" "0" "" "" "g.30304719T>C" "" "VUS" "" "0000181564" "1" "50" "X" "30322835" "30322835" "subst" "0" "02152" "NR0B1_000074" "g.30322835C>G" "" "{PMID:Achermann 2001:11443184}" "" "" "" "Germline" "" "" "0" "" "" "g.30304718C>G" "" "VUS" "" "0000181565" "1" "50" "X" "30322820" "30322822" "del" "0" "02152" "NR0B1_000094" "g.30322820_30322822del" "" "{PMID:Balsamo 2005:15884018}" "" "" "" "Germline" "" "" "0" "" "" "g.30304703_30304705del" "" "VUS" "" "0000181566" "1" "50" "X" "30322802" "30322802" "subst" "0" "02152" "NR0B1_000108" "g.30322802A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30304685A>C" "" "VUS" "" "0000181567" "1" "50" "X" "30322793" "30322793" "subst" "0" "02152" "NR0B1_000067" "g.30322793A>C" "" "{PMID:Tabarin 2000:10675358}" "" "" "" "Germline" "" "" "0" "" "" "g.30304676A>C" "" "VUS" "" "0000181568" "1" "50" "X" "30322790" "30322790" "subst" "0" "02152" "NR0B1_000029" "g.30322790T>A" "" "{PMID:Schwartz 1997:9003500}; {PMID:Petersen 1982:6891556}; {PMID:Lalli 2000:10848616}; {OMIM300473:0008}" "" "" "change affects RNA-binding activity" "Germline" "" "rs28935481" "0" "" "" "g.30304673T>A" "" "VUS" "" "0000181569" "1" "50" "X" "30322712" "30322712" "subst" "0" "02152" "NR0B1_000062" "g.30322712A>C" "" "{PMID:Abe 1999:10323730}" "" "" "" "Germline" "" "" "0" "" "" "g.30304595A>C" "" "VUS" "" "0000181570" "1" "50" "X" "30322698" "30322698" "subst" "0" "02152" "NR0B1_000109" "g.30322698A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30304581A>G" "" "VUS" "" "0000181571" "20" "50" "X" "30327367" "30327367" "subst" "0.151451" "00006" "NR0B1_000110" "g.30327367G>A" "34/208" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent variant; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "Germline" "" "rs6150" "0" "" "" "g.30309250G>A" "" "VUS" "" "0000181572" "1" "50" "X" "30326696" "30326696" "subst" "0" "02152" "NR0B1_000072" "g.30326696A>T" "" "{PMID:Achermann 2001:11443184}" "" "" "" "Germline" "" "" "0" "" "" "g.30308579A>T" "" "VUS" "" "0000181573" "1" "50" "X" "30326681" "30326681" "subst" "0" "02152" "NR0B1_000014" "g.30326681C>G" "" "{PMID:Muscatelli 1994:7990958}; {OMIM300473:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.30308564C>G" "" "VUS" "" "0000181574" "1" "50" "X" "30326676" "30326678" "del" "0" "02152" "NR0B1_000015" "g.30326676_30326678del" "" "{PMID:Muscatelli 1994:7990958}" "CfoI-" "" "" "Germline" "" "" "0" "" "" "g.30308559_30308561del" "" "VUS" "" "0000181575" "1" "50" "X" "30326676" "30326678" "del" "0" "02152" "NR0B1_000015" "g.30326676_30326678del" "" "{PMID:Zhang 1998:9529340}" "CfoI-" "" "" "Germline" "" "" "0" "" "" "g.30308559_30308561del" "" "VUS" "" "0000181576" "1" "50" "X" "30326648" "30326648" "subst" "0" "02152" "NR0B1_000064" "g.30326648A>G" "" "{PMID:Bassett 1999:10341858}" "" "" "" "Germline" "" "" "0" "" "" "g.30308531A>G" "" "VUS" "" "0000181577" "1" "50" "X" "30326621" "30326621" "subst" "0" "02152" "NR0B1_000093" "g.30326621A>C" "" "{PMID:Franzese 2005:15800903}" "" "" "" "Germline" "" "" "0" "" "" "g.30308504A>C" "" "VUS" "" "0000181578" "1" "50" "X" "30326608" "30326608" "subst" "0" "02152" "NR0B1_000036" "g.30326608C>G" "" "{PMID:Nakae 1997:9360549}; {OMIM300473:0017}" "" "" "" "Germline" "" "rs28935482" "0" "" "" "g.30308491C>G" "" "VUS" "" "0000181579" "1" "50" "X" "30326597" "30326597" "subst" "0" "02152" "NR0B1_000086" "g.30326597A>G" "" "{PMID:Zhang 2001:11748852}" "" "" "" "Germline" "" "" "0" "" "" "g.30308480A>G" "" "VUS" "" "0000181580" "1" "50" "X" "30326591" "30326591" "subst" "0" "02152" "NR0B1_000092" "g.30326591A>G" "" "{PMID:Brown 2003:12629128}" "" "" "" "Germline" "" "" "0" "" "" "g.30308474A>G" "" "VUS" "" "0000181581" "1" "50" "X" "30326583" "30326583" "subst" "0" "02152" "NR0B1_000073" "g.30326583C>G" "" "{PMID:Achermann 2001:11443184}" "" "" "" "Germline" "" "" "0" "" "" "g.30308466C>G" "" "VUS" "" "0000181582" "1" "50" "X" "30326582" "30326582" "subst" "0" "02152" "NR0B1_000030" "g.30326582G>A" "" "{PMID:Takahashi 1997:9063431}" "" "" "" "Germline" "" "" "0" "" "" "g.30308465G>A" "" "VUS" "" "0000181583" "1" "50" "X" "30326352" "30326352" "subst" "0" "02152" "NR0B1_000039" "g.30326352C>T" "" "{PMID:Zhang 1998:9529340}" "" "" "" "Germline" "" "" "0" "" "" "g.30308235C>T" "" "VUS" "" "0000181584" "1" "50" "X" "30326339" "30326339" "subst" "0" "02152" "NR0B1_000071" "g.30326339A>T" "" "{PMID:Achermann 2000:11113848}" "" "" "" "Germline" "" "" "0" "" "" "g.30308222A>T" "" "VUS" "" "0000181585" "1" "50" "X" "30326335" "30326335" "subst" "0" "02152" "NR0B1_000034" "g.30326335C>A" "" "{PMID:Nakae 1997:9360549}; {OMIM300473:0016}" "" "" "" "Germline" "" "" "0" "" "" "g.30308218C>A" "" "VUS" "" "0000181586" "1" "50" "X" "30326327" "30326327" "subst" "0" "02152" "NR0B1_000040" "g.30326327A>C" "" "{PMID:Zhang 1998:9529340}" "" "" "" "Germline" "" "" "0" "" "" "g.30308210A>C" "" "VUS" "" "0000181587" "1" "50" "X" "30325499" "30325499" "subst" "0" "02152" "NR0B1_000097" "g.30325499C>T" "0.11" "" "" "" "" "Germline" "" "rs11095180" "0" "" "" "g.30307382C>T" "" "VUS" "" "0000181588" "1" "50" "X" "30323955" "30323955" "subst" "0" "02152" "NR0B1_000099" "g.30323955T>G" "0.21" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3788890" "0" "" "" "g.30305838T>G" "" "VUS" "" "0000181589" "1" "50" "X" "30323922" "30323922" "subst" "0" "02152" "NR0B1_000098" "g.30323922T>G" "0.56" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3788891" "0" "" "" "g.30305805T>G" "" "VUS" "" "0000181590" "1" "50" "X" "30322907" "30322907" "subst" "0.00000559437" "02152" "NR0B1_000100" "g.30322907T>A" "" "" "" "" "" "Germline" "" "rs11550590" "0" "" "" "g.30304790T>A" "" "VUS" "" "0000181591" "1" "90" "X" "30322695" "30746860" "" "0" "02152" "NR0B1_000002" "g.(?_30322695)_(30746860_?)del" "" "{PMID:Guo 1995:7609262}" "" "" "large deletion, incl. GKD gene" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000181592" "1" "90" "X" "30327329" "30327330" "del" "0" "02152" "NR0B1_000035" "g.30327329_30327330del" "" "{PMID:Nakae 1997:9360549}; {OMIM300473:0015}" "" "" "" "Germline" "" "" "0" "" "" "g.30309212_30309213del" "" "pathogenic" "" "0000181593" "1" "90" "X" "30322845" "30322845" "del" "0" "02152" "NR0B1_000107" "g.30322845del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30304728del" "" "pathogenic" "" "0000181594" "1" "90" "X" "30322827" "30322827" "subst" "0" "02152" "NR0B1_000088" "g.30322827C>A" "" "{PMID:Zhang 2001:11748852}" "" "" "" "Germline" "" "" "0" "" "" "g.30304710C>A" "" "pathogenic" "" "0000181595" "1" "90" "X" "30322817" "30322817" "del" "0" "02152" "NR0B1_000003" "g.30322817del" "" "{PMID:Guo 1995:7609262}" "" "" "" "Germline" "" "" "0" "" "" "g.30304700del" "" "pathogenic" "" "0000181596" "1" "90" "X" "30322817" "30322817" "del" "0" "02152" "NR0B1_000003" "g.30322817del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30304700del" "" "pathogenic" "" "0000181597" "1" "90" "X" "30322811" "30322811" "del" "0" "02152" "NR0B1_000091" "g.30322811del" "" "{PMID:Argente 2003:12559852}" "" "" "" "Germline" "" "" "0" "" "" "g.30304694del" "" "pathogenic" "" "0000181598" "1" "90" "X" "30327238" "30327238" "subst" "0" "02152" "NR0B1_000082" "g.30327238G>C" "" "{PMID:Zhang 2001:11748852}" "" "" "" "Germline" "" "" "0" "" "" "g.30309121G>C" "" "pathogenic" "" "0000181599" "1" "90" "X" "30322764" "30322764" "del" "0" "02152" "NR0B1_000079" "g.30322764del" "" "Wasniewska 2001 JEndocrGenet" "" "" "" "Germline" "" "" "0" "" "" "g.30304647del" "" "pathogenic" "" "0000181600" "20" "90" "X" "30322746" "30322747" "del" "0" "00006" "NR0B1_000111" "g.30322746_30322747del" "" "{PMID:Mueller 2010:20108433}" "" "" "" "Germline" "" "" "0" "" "" "g.30304629_30304630del" "" "pathogenic" "" "0000181601" "1" "90" "X" "30322732" "30322733" "del" "0" "02152" "NR0B1_000027" "g.30322732_30322733del" "" "{PMID:Nakae 1996:8855822}" "" "" "" "Germline" "" "" "0" "" "" "g.30304615_30304616del" "" "pathogenic" "" "0000181602" "1" "90" "X" "30322732" "30322733" "delins" "0" "02152" "NR0B1_000028" "g.30322732_30322733delinsC" "" "{PMID:Nakae 1996:8855822} {OMIM300473:0012}" "" "" "" "Germline" "" "" "0" "" "" "g.30304615_30304616delinsC" "" "pathogenic" "" "0000181603" "1" "90" "X" "30327208" "30327208" "subst" "0" "02152" "NR0B1_000023" "g.30327208G>T" "" "{PMID:Nakae 1996:8855822}; {OMIM300473:0011}" "" "" "" "Germline" "" "" "0" "" "" "g.30309091G>T" "" "pathogenic" "" "0000181604" "1" "90" "X" "30327207" "30327208" "delins" "0" "02152" "NR0B1_000007" "g.30327207_30327208delinsA" "" "{PMID:Muscatelli 1994:7990958}" "" "" "" "Germline" "" "" "0" "" "" "g.30309090_30309091delinsA" "" "pathogenic" "" "0000181605" "1" "90" "X" "30327165" "30327166" "ins" "0" "02152" "NR0B1_000008" "g.30327165_30327166insA" "" "{PMID:Muscatelli 1994:7990958}" "" "" "" "Germline" "" "" "0" "" "" "g.30309048_30309049insA" "" "pathogenic" "" "0000181606" "1" "90" "X" "30327154" "30327154" "subst" "0" "02152" "NR0B1_000076" "g.30327154G>T" "" "{PMID:Phelan 2001:11748841}" "" "" "" "Germline" "" "" "0" "" "" "g.30309037G>T" "" "pathogenic" "" "0000181607" "1" "90" "X" "30327141" "30327141" "del" "0" "02152" "NR0B1_000083" "g.30327141del" "" "{PMID:Zhang 2001:11748852}" "" "" "" "Germline" "" "" "0" "" "" "g.30309024del" "" "pathogenic" "" "0000181608" "1" "90" "X" "30327106" "30327109" "dup" "0" "02152" "NR0B1_000042" "g.30327106_30327109dup" "" "{PMID:Zhang 1998:9529340}" "" "" "" "Germline" "" "" "0" "" "" "g.30308989_30308992dup" "" "pathogenic" "" "0000181609" "21" "50" "X" "30327105" "30327105" "subst" "0.00270253" "02152" "NR0B1_000032" "g.30327105C>T" "" "{PMID:Kinoshita 1997:09195207}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30308988C>T" "" "VUS" "" "0000181610" "1" "90" "X" "30327091" "30327091" "subst" "0" "02152" "NR0B1_000053" "g.30327091G>T" "" "{PMID:Peter 1998:9709929}" "" "" "" "Germline" "" "" "0" "" "" "g.30308974G>T" "" "pathogenic" "" "0000181611" "1" "90" "X" "30322695" "30327481" "" "0" "02152" "NR0B1_000001" "g.(?_30322695)_(30327481_?)del" "" "{PMID:Guo 1995:7609262}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000181612" "1" "90" "X" "30327086" "30327086" "dup" "0" "02152" "NR0B1_000075" "g.30327086dup" "" "{PMID:Domenice 2001:11549627}" "" "" "" "Germline" "" "" "0" "" "" "g.30308969dup" "" "pathogenic" "" "0000181613" "1" "90" "X" "30327077" "30327077" "del" "0" "02152" "NR0B1_000102" "g.30327077del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30308960del" "" "pathogenic" "" "0000181614" "1" "90" "X" "30327076" "30327076" "del" "0" "02152" "NR0B1_000058" "g.30327076del" "" "{PMID:Reutens 1999:10022408}" "" "" "" "Germline" "" "" "0" "" "" "g.30308959del" "" "pathogenic" "" "0000181615" "1" "90" "X" "30327065" "30327065" "dup" "0" "02152" "NR0B1_000043" "g.30327065dup" "" "{PMID:Zhang 1998:9529340}" "" "" "" "Germline" "" "" "0" "" "" "g.30308948dup" "" "pathogenic" "" "0000181616" "1" "90" "X" "30327059" "30327059" "del" "0" "02152" "NR0B1_000069" "g.30327059del" "" "{PMID:Binder 2000:10931108}" "" "" "" "Germline" "" "" "0" "" "" "g.30308942del" "" "pathogenic" "" "0000181617" "1" "90" "X" "30327040" "30327040" "subst" "0" "02152" "NR0B1_000077" "g.30327040G>C" "" "{PMID:Phelan 2001:11748841}" "" "" "" "Germline" "" "" "0" "" "" "g.30308923G>C" "" "pathogenic" "" "0000181618" "1" "90" "X" "30327024" "30327024" "del" "0" "02152" "NR0B1_000084" "g.30327024del" "" "{PMID:Zhang 2001:11748852}" "" "" "" "Germline" "" "" "0" "" "" "g.30308907del" "" "pathogenic" "" "0000181619" "1" "90" "X" "30327023" "30327023" "subst" "0" "02152" "NR0B1_000044" "g.30327023G>C" "" "{PMID:Zhang 1998:9529340}" "" "" "" "Germline" "" "" "0" "" "" "g.30308906G>C" "" "pathogenic" "" "0000181620" "1" "90" "X" "30327004" "30327004" "del" "0" "02152" "NR0B1_000054" "g.30327004del" "" "{PMID:Peter 1998:9709929}" "" "" "" "Germline" "" "" "0" "" "" "g.30308887del" "" "pathogenic" "" "0000181621" "1" "90" "X" "30326986" "30326987" "dup" "0" "02152" "NR0B1_000070" "g.30326986_30326987dup" "" "{PMID:Binder 2000:10931108}" "" "" "" "Germline" "" "" "0" "" "" "g.30308869_30308870dup" "" "pathogenic" "" "0000181622" "0" "90" "X" "30289748" "30327481" "" "0" "02152" "NR0B1_000031" "g.(30256800_30322695)_(30327481_?)del" "" "{PMID:Kinoshita 1997:09195207}" "" "" "deletion does not include DXS319" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000181623" "20" "90" "X" "30326983" "30326983" "subst" "0.332715" "00006" "NR0B1_000096" "g.30326983C>T" "28/208" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent variant; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "Germline" "" "rs2269345" "0" "" "" "g.30308866C>T" "" "pathogenic" "" "0000181624" "1" "90" "X" "30326980" "30326980" "del" "0" "02152" "NR0B1_000045" "g.30326980del" "" "{PMID:Zhang 1998:9529340}" "" "" "" "Germline" "" "" "0" "" "" "g.30308863del" "" "pathogenic" "" "0000181625" "1" "90" "X" "30326969" "30326969" "subst" "0" "02152" "NR0B1_000059" "g.30326969C>T" "" "{PMID:Reutens 1999:10022408}" "" "" "" "Germline" "" "" "0" "" "" "g.30308852C>T" "" "pathogenic" "" "0000181626" "1" "90" "X" "30326968" "30326968" "subst" "0" "02152" "NR0B1_000017" "g.30326968C>T" "" "{PMID:Zhang 1998:9529340}" "" "" "" "Germline" "" "" "0" "" "" "g.30308851C>T" "" "pathogenic" "" "0000181627" "1" "90" "X" "30326968" "30326968" "subst" "0" "02152" "NR0B1_000017" "g.30326968C>T" "" "{PMID:Yanase 1996:8636263}; {OMIM300473:0006}" "" "" "" "Germline" "" "" "0" "" "" "g.30308851C>T" "" "pathogenic" "" "0000181628" "1" "90" "X" "30326965" "30326965" "subst" "0" "02152" "NR0B1_000009" "g.30326965C>T" "" "{PMID:Muscatelli 1994:7990958}" "" "" "" "Germline" "" "" "0" "" "" "g.30308848C>T" "" "pathogenic" "" "0000181629" "1" "90" "X" "30326943" "30326965" "del" "0" "02152" "NR0B1_000041" "g.30326943_30326965del" "" "{PMID:Zhang 1998:9529340}" "" "" "" "Germline" "" "" "0" "" "" "g.30308826_30308848del" "" "pathogenic" "" "0000181630" "1" "90" "X" "30326938" "30326938" "del" "0" "02152" "NR0B1_000046" "g.30326938del" "" "{PMID:Zhang 1998:9529340}" "" "" "" "Germline" "" "" "0" "" "" "g.30308821del" "" "pathogenic" "" "0000181631" "1" "90" "X" "30326935" "30326936" "ins" "0" "02152" "NR0B1_000004" "g.30326935_30326936insGGGT" "" "{PMID:Zanaria 1994:7990953}" "" "" "" "Germline" "" "" "0" "" "" "g.30308818_30308819insGGGT" "" "pathogenic" "" "0000181632" "1" "90" "X" "30326937" "30326937" "del" "0" "02152" "NR0B1_000055" "g.30326937del" "" "{PMID:Peter 1998:9709929}" "" "" "" "Germline" "" "" "0" "" "" "g.30308820del" "" "pathogenic" "" "0000181633" "1" "90" "X" "30327372" "30327372" "subst" "0" "02152" "NR0B1_000090" "g.30327372G>A" "" "{PMID:Ozisik 2003:12519885}" "" "" "" "Germline" "" "" "0" "" "" "g.30309255G>A" "" "pathogenic" "" "0000181634" "1" "90" "X" "30326937" "30326937" "dup" "0" "02152" "NR0B1_000063" "g.30326937dup" "" "{PMID:Bassett 1999:10341858}" "" "" "" "Germline" "" "" "0" "" "" "g.30308820dup" "" "pathogenic" "" "0000181635" "1" "90" "X" "30326930" "30326931" "del" "0" "02152" "NR0B1_000010" "g.30326930_30326931del" "" "{PMID:Muscatelli 1994:7990958}" "" "" "" "Germline" "" "" "0" "" "" "g.30308813_30308814del" "" "pathogenic" "" "0000181636" "1" "90" "X" "30326915" "30326918" "dup" "0" "02152" "NR0B1_000011" "g.30326915_30326918dup" "" "{PMID:Muscatelli 1994:7990958}" "" "" "" "Germline" "" "" "0" "" "" "g.30308798_30308801dup" "" "pathogenic" "" "0000181637" "1" "90" "X" "30326910" "30326911" "ins" "0" "02152" "NR0B1_000103" "g.30326910_30326911insGCCG" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30308793_30308794insGCCG" "" "pathogenic" "" "0000181638" "1" "90" "X" "30326896" "30326896" "delins" "0" "02152" "NR0B1_000056" "g.30326896delinsGG" "" "{PMID:Peter 1998:9709929}" "" "" "" "Germline" "" "" "0" "" "" "g.30308779delinsGG" "" "pathogenic" "" "0000181639" "1" "90" "X" "30326890" "30326890" "subst" "0" "02152" "NR0B1_000066" "g.30326890G>T" "" "{PMID:Caron 1999:10522996}" "" "" "" "Germline" "" "" "0" "" "" "g.30308773G>T" "" "pathogenic" "" "0000181640" "1" "90" "X" "30322695" "30327481" "" "0" "02152" "NR0B1_000001" "g.(?_30322695)_(30327481_?)del" "" "{PMID:Kinoshita 1997:09195207}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000181641" "1" "90" "X" "30326854" "30326854" "del" "0" "02152" "NR0B1_000085" "g.30326854del" "" "{PMID:Zhang 2001:11748852}" "" "" "" "Germline" "" "" "0" "" "" "g.30308737del" "" "pathogenic" "" "0000181642" "1" "90" "X" "30326854" "30326854" "dup" "0" "02152" "NR0B1_000047" "g.30326854dup" "" "{PMID:Zhang 1998:9529340}" "" "" "" "Germline" "" "" "0" "" "" "g.30308737dup" "" "pathogenic" "" "0000181643" "1" "90" "X" "30326783" "30326783" "del" "0" "02152" "NR0B1_000060" "g.30326783del" "" "{PMID:Reutens 1999:10022408}" "" "" "" "Germline" "" "" "0" "" "" "g.30308666del" "" "pathogenic" "" "0000181644" "1" "90" "X" "30326777" "30326777" "subst" "0" "02152" "NR0B1_000012" "g.30326777C>T" "" "{PMID:Muscatelli 1994:7990958}; {OMIM300473:0005}" "MseI+" "" "" "Germline" "" "" "0" "" "" "g.30308660C>T" "" "pathogenic" "" "0000181645" "1" "90" "X" "30326777" "30326777" "subst" "0" "02152" "NR0B1_000012" "g.30326777C>T" "" "{PMID:Zanaria 1994:7990953}" "MseI+" "" "" "Germline" "" "" "0" "" "" "g.30308660C>T" "" "pathogenic" "" "0000181646" "1" "90" "X" "30326777" "30326777" "subst" "0" "02152" "NR0B1_000012" "g.30326777C>T" "" "{PMID:Zhang 1998:9529340}" "MseI+" "" "" "Germline" "" "" "0" "" "" "g.30308660C>T" "" "pathogenic" "" "0000181647" "1" "90" "X" "30326773" "30326773" "subst" "0" "02152" "NR0B1_000104" "g.30326773C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30308656C>T" "" "pathogenic" "" "0000181648" "1" "90" "X" "30326743" "30326743" "dup" "0" "02152" "NR0B1_000105" "g.30326743dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30308626dup" "" "pathogenic" "" "0000181649" "1" "90" "X" "30326722" "30326732" "del" "0" "02152" "NR0B1_000005" "g.30326722_30326732del" "" "{PMID:Zanaria 1994:7990953}" "" "" "" "Germline" "" "" "0" "" "" "g.30308605_30308615del" "" "pathogenic" "" "0000181650" "1" "90" "X" "30326727" "30326727" "subst" "0" "02152" "NR0B1_000048" "g.30326727G>A" "" "{PMID:Zhang 1998:9529340}" "" "" "" "Germline" "" "" "0" "" "" "g.30308610G>A" "" "pathogenic" "" "0000181651" "1" "90" "X" "30326727" "30326727" "del" "0" "02152" "NR0B1_000049" "g.30326727del" "" "{PMID:Zhang 1998:9529340}" "" "" "" "Germline" "" "" "0" "" "" "g.30308610del" "" "pathogenic" "" "0000181652" "1" "90" "X" "30326708" "30326709" "ins" "0" "02152" "NR0B1_000078" "g.30326708_30326709insGCCCGCTGAGGGT" "" "{PMID:Phelan 2001:11748841}" "" "" "" "Germline" "" "" "0" "" "" "g.30308591_30308592insGCCCGCTGAGGGT" "" "pathogenic" "" "0000181653" "1" "90" "X" "30327365" "30327365" "subst" "0" "02152" "NR0B1_000068" "g.30327365C>T" "" "{PMID:Binder 2000:10931108}" "" "" "" "Germline" "" "" "0" "" "" "g.30309248C>T" "" "pathogenic" "" "0000181654" "1" "90" "X" "30326693" "30326693" "subst" "0" "02152" "NR0B1_000013" "g.30326693A>T" "" "{PMID:Muscatelli 1994:7990958}; {OMIM300473:0003}" "BstUI+" "" "" "Germline" "" "" "0" "" "" "g.30308576A>T" "" "pathogenic" "" "0000181655" "1" "90" "X" "30326668" "30326668" "subst" "0" "02152" "NR0B1_000024" "g.30326668G>C" "" "{PMID:Nakae 1996:8855822}; {OMIM300473:0010}" "" "" "" "Germline" "" "" "0" "" "" "g.30308551G>C" "" "pathogenic" "" "0000181656" "1" "90" "X" "30326642" "30326642" "del" "0" "02152" "NR0B1_000018" "g.30326642del" "" "{PMID:Yanase 1996:8636263}; {OMIM300473:0007}" "MspI+" "" "" "De novo" "" "" "0" "" "" "g.30308525del" "" "pathogenic" "" "0000181657" "1" "90" "X" "30326634" "30326634" "subst" "0" "02152" "NR0B1_000016" "g.30326634G>A" "" "{PMID:Muscatelli 1994:7990958}; {OMIM300473:0001}" "PvuII-" "" "" "Germline" "" "" "0" "" "" "g.30308517G>A" "" "pathogenic" "" "0000181658" "1" "90" "X" "30327365" "30327365" "del" "0" "02152" "NR0B1_000022" "g.30327365del" "" "{PMID:Meloni 1996:8844218}" "" "" "" "Germline" "" "" "0" "" "" "g.30309248del" "" "pathogenic" "" "0000181659" "1" "90" "X" "30326556" "30326557" "del" "0" "02152" "NR0B1_000087" "g.30326556_30326557del" "" "{PMID:Zhang 2001:11748852}" "" "" "" "Germline" "" "" "0" "" "" "g.30308439_30308440del" "" "pathogenic" "" "0000181660" "1" "90" "X" "30326546" "30326546" "del" "0" "02152" "NR0B1_000025" "g.30326546del" "" "{PMID:Nakae 1996:8855822}; {OMIM300473:0013}" "" "" "" "Germline" "" "" "0" "" "" "g.30308429del" "" "pathogenic" "" "0000181661" "1" "90" "X" "30326538" "30326539" "dup" "0" "02152" "NR0B1_000050" "g.30326538_30326539dup" "" "{PMID:Zhang 1998:9529340}" "" "" "" "Germline" "" "" "0" "" "" "g.30308421_30308422dup" "" "pathogenic" "" "0000181662" "1" "90" "X" "30326494" "30326495" "delins" "0" "02152" "NR0B1_000020" "g.30326494_30326495delinsT" "" "{PMID:Habiby 1996:8770879}" "" "" "" "Germline" "" "" "0" "" "" "g.30308377_30308378delinsT" "" "pathogenic" "" "0000181663" "1" "90" "X" "30326625" "30326667" "delins" "0" "02152" "NR0B1_000033" "g.30326625_30326667delinsAGTTGCGCACCAAGTTGC" "" "{PMID:Kinoshita 1997:9195207}" "" "" "" "De novo" "" "" "0" "" "" "g.30308508_30308550delinsAGTTGCGCACCAAGTTGC" "" "pathogenic" "" "0000181664" "1" "90" "X" "30326412" "30326412" "subst" "0" "02152" "NR0B1_000038" "g.30326412G>A" "" "{PMID:Zhang 1998:9529340}" "" "" "" "Germline" "" "" "0" "" "" "g.30308295G>A" "" "pathogenic" "" "0000181665" "1" "90" "X" "30327352" "30327352" "subst" "0" "02152" "NR0B1_000101" "g.30327352G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30309235G>T" "" "pathogenic" "" "0000181666" "1" "90" "X" "30326374" "30326374" "subst" "0" "02152" "NR0B1_000006" "g.30326374C>T" "" "{PMID:Muscatelli 1994:7990958}; {OMIM300473:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.30308257C>T" "" "pathogenic" "" "0000181667" "1" "90" "X" "30326351" "30326351" "del" "0" "02152" "NR0B1_000080" "g.30326351del" "" "{PMID:Zhang 2001:11748852}" "" "" "" "Germline" "" "" "0" "" "" "g.30308234del" "" "pathogenic" "" "0000181668" "1" "90" "X" "30326326" "30326340" "del" "0" "02152" "NR0B1_000081" "g.30326326_30326340del" "" "{PMID:Zhang 2001:11748852}" "" "" "" "Germline" "" "" "0" "" "" "g.30308209_30308223del" "" "pathogenic" "" "0000181669" "1" "90" "X" "30322783" "30322783" "del" "0" "02152" "NR0B1_000052" "g.30322783del" "" "{PMID:Peter 1998:9709929}" "" "" "" "Germline" "" "" "0" "" "" "g.30304666del" "" "pathogenic" "" "0000181670" "1" "90" "X" "30322274" "30324511" "delins" "0" "02152" "NR0B1_000089" "g.30322274_30324511delinsGGAAATTATATATATTTCCAAATAA" "" "{PMID:Salvi 2002:12213854}" "" "" "2.2 Kb deletion and insertion" "Germline" "" "" "0" "" "" "g.30304157_30306394delinsGGAAATTATATATATTTCCAAATAA" "" "pathogenic" "" "0000181671" "1" "90" "X" "30327339" "30327339" "del" "0" "02152" "NR0B1_000037" "g.30327339del" "" "{PMID:Hamaguchi 1998:9508067}" "" "" "" "Germline" "" "" "0" "" "" "g.30309222del" "" "pathogenic" "" "0000181672" "1" "90" "X" "30322926" "30322926" "subst" "0" "02152" "NR0B1_000026" "g.30322926G>A" "" "{PMID:Nakae 1996:8855822}; {OMIM300473:0009}" "" "" "" "De novo" "" "" "0" "" "" "g.30304809G>A" "" "pathogenic" "" "0000181673" "1" "90" "X" "30322912" "30322912" "subst" "0" "02152" "NR0B1_000061" "g.30322912G>T" "" "{PMID:Reutens 1999:10022408}" "" "" "" "Germline" "" "" "0" "" "" "g.30304795G>T" "" "pathogenic" "" "0000181674" "1" "90" "X" "30322876" "30322879" "del" "0" "02152" "NR0B1_000065" "g.30322876_30322879del" "" "{PMID:Wang 1999:10361383}" "" "" "" "Germline" "" "" "0" "" "" "g.30304759_30304762del" "" "pathogenic" "" "0000181675" "1" "90" "X" "30322858" "30322870" "del" "0" "02152" "NR0B1_000106" "g.30322858_30322870del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30304741_30304753del" "" "pathogenic" "" "0000181676" "1" "90" "X" "30322859" "30322862" "dup" "0" "02152" "NR0B1_000021" "g.30322859_30322862dup" "" "{PMID:Habiby 1996:8770879}" "" "" "" "Germline" "" "" "0" "" "" "g.30304742_30304745dup" "" "pathogenic" "" "0000181677" "1" "90" "X" "30322851" "30322851" "subst" "0" "02152" "NR0B1_000057" "g.30322851G>A" "" "{PMID:Peter 1998:9709929}" "" "" "" "Germline" "" "" "0" "" "" "g.30304734G>A" "" "pathogenic" "" "0000181678" "1" "90" "X" "30322844" "30322845" "dup" "0" "02152" "NR0B1_000019" "g.30322844_30322845dup" "" "{PMID:Guo 1996:8675564}" "" "" "" "Germline" "" "" "0" "" "" "g.30304727_30304728dup" "" "pathogenic" "" "0000181679" "21" "90" "X" "30326890" "30326890" "subst" "0" "00006" "NR0B1_000066" "g.30326890G>T" "" "{PMID:Kinoshita 1997:09195207}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30308773G>T" "" "pathogenic" "" "0000235412" "21" "50" "X" "29882256" "30355844" "dup" "0" "00006" "NR0B1_000116" "g.(29488607_30275904)_(30353407_30358281)dup" "" "{PMID:Oshima 2009:19449031}" "" "hg18 :g.(29398528_30185825)_(30263328_30268202)dup" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000296608" "0" "10" "X" "30326983" "30326983" "subst" "0.332715" "02325" "NR0B1_000096" "g.30326983C>T" "" "" "" "NR0B1(NM_000475.5):c.498G>A (p.R166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30308866C>T" "" "benign" "" "0000300409" "0" "10" "X" "30327367" "30327367" "subst" "0.151451" "02326" "NR0B1_000110" "g.30327367G>A" "" "" "" "NR0B1(NM_000475.5):c.114C>T (p.C38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30309250G>A" "" "benign" "" "0000300410" "0" "90" "X" "30326312" "30326312" "subst" "0" "02326" "NR0B1_000119" "g.30326312C>A" "" "" "" "NR0B1(NM_000475.5):c.1168+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30308195C>A" "" "pathogenic" "" "0000300411" "0" "50" "X" "30322835" "30322835" "subst" "0" "02326" "NR0B1_000118" "g.30322835C>A" "" "" "" "NR0B1(NM_000475.5):c.1274G>T (p.R425I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30304718C>A" "" "VUS" "" "0000300412" "0" "90" "X" "30322790" "30322790" "subst" "0" "02326" "NR0B1_000029" "g.30322790T>A" "" "" "" "NR0B1(NM_000475.5):c.1319A>T (p.N440I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30304673T>A" "" "pathogenic" "" "0000300413" "0" "90" "X" "30327166" "30327166" "subst" "0" "02326" "NR0B1_000124" "g.30327166C>A" "" "" "" "NR0B1(NM_000475.5):c.315G>T (p.W105C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30309049C>A" "" "pathogenic" "" "0000300414" "0" "10" "X" "30326983" "30326983" "subst" "0.332715" "02326" "NR0B1_000096" "g.30326983C>T" "" "" "" "NR0B1(NM_000475.5):c.498G>A (p.R166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30308866C>T" "" "benign" "" "0000300415" "0" "90" "X" "30326716" "30326716" "subst" "0" "02326" "NR0B1_000121" "g.30326716G>T" "" "" "" "NR0B1(NM_000475.5):c.765C>A (p.C255*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30308599G>T" "" "pathogenic" "" "0000304510" "0" "30" "X" "30322699" "30322699" "subst" "0.000897747" "01943" "NR0B1_000117" "g.30322699T>C" "" "" "" "NR0B1(NM_000475.4):c.1410A>G (p.I470M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30304582T>C" "" "likely benign" "" "0000304511" "0" "30" "X" "30327307" "30327307" "subst" "0.0000232275" "01943" "NR0B1_000125" "g.30327307C>T" "" "" "" "NR0B1(NM_000475.4):c.174G>A (p.R58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30309190C>T" "" "likely benign" "" "0000304512" "0" "30" "X" "30327142" "30327142" "subst" "0" "01943" "NR0B1_000123" "g.30327142G>T" "" "" "" "NR0B1(NM_000475.4):c.339C>A (p.P113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30309025G>T" "" "likely benign" "" "0000304513" "0" "10" "X" "30327105" "30327105" "subst" "0.00270253" "01943" "NR0B1_000032" "g.30327105C>T" "" "" "" "NR0B1(NM_000475.4):c.376G>A (p.V126M, p.(Val126Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30308988C>T" "" "benign" "" "0000304514" "0" "30" "X" "30326960" "30326960" "subst" "0" "01943" "NR0B1_000122" "g.30326960C>G" "" "" "" "NR0B1(NM_000475.4):c.521G>C (p.R174P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30308843C>G" "" "likely benign" "" "0000333568" "0" "30" "X" "30327105" "30327105" "subst" "0.00270253" "01804" "NR0B1_000032" "g.30327105C>T" "" "" "" "NR0B1(NM_000475.4):c.376G>A (p.V126M, p.(Val126Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30308988C>T" "" "likely benign" "" "0000486557" "0" "90" "X" "31137345" "32953097" "del" "0" "03315" "DMD_050380" "g.(?_31137345)_(32867938_33038255)del" "" "{PMID:Loke 2009:19339795}, {PMID:Tomar 2019:31081998}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_31119228)_(32849821_33020138)del" "" "pathogenic (recessive)" "" "0000575518" "0" "50" "X" "30322835" "30322835" "subst" "0" "02326" "NR0B1_000074" "g.30322835C>G" "" "" "" "NR0B1(NM_000475.5):c.1274G>C (p.R425T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30304718C>G" "" "VUS" "" "0000575519" "0" "30" "X" "30326328" "30326328" "subst" "0.0000112025" "01804" "NR0B1_000127" "g.30326328C>A" "" "" "" "NR0B1(NM_000475.4):c.1153G>T (p.(Val385Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30308211C>A" "" "likely benign" "" "0000575520" "0" "90" "X" "30326633" "30326634" "ins" "0" "02326" "NR0B1_000128" "g.30326633_30326634insTTTTTT" "" "" "" "NR0B1(NM_000475.5):c.848_849insAAAAAA (p.Q283_L284insKK)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30308516_30308517insTTTTTT" "" "pathogenic" "" "0000575522" "0" "30" "X" "30326881" "30326881" "subst" "0.000226374" "01943" "NR0B1_000130" "g.30326881G>C" "" "" "" "NR0B1(NM_000475.4):c.600C>G (p.C200W), NR0B1(NM_000475.5):c.600C>G (p.C200W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30308764G>C" "" "likely benign" "" "0000575524" "0" "90" "X" "30327158" "30327158" "subst" "0" "02327" "NR0B1_000132" "g.30327158G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30309041G>T" "" "pathogenic" "" "0000575525" "0" "30" "X" "30327465" "30327465" "subst" "0.00122562" "01804" "NR0B1_000133" "g.30327465G>T" "" "" "" "NR0B1(NM_000475.4):c.16C>A (p.(His6Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30309348G>T" "" "likely benign" "" "0000619454" "0" "30" "X" "30322825" "30322825" "subst" "0.000011185" "01943" "NR0B1_000134" "g.30322825T>A" "" "" "" "NR0B1(NM_000475.4):c.1284A>T (p.E428D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30304708T>A" "" "likely benign" "" "0000619455" "0" "70" "X" "30326399" "30326399" "subst" "0" "01943" "NR0B1_000135" "g.30326399A>T" "" "" "" "NR0B1(NM_000475.4):c.1082T>A (p.I361N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30308282A>T" "" "likely pathogenic" "" "0000646860" "20" "90" "X" "29811101" "31414675" "del" "0" "00006" "DMD_066680" "g.(29686622_29935580)_(31366752_31462597)del" "" "{PMID:Korkut 2016:27087023}" "" "" "deletion involving GK and NR0B1 and part of IL1RAPL1 and DMD" "Germline" "" "" "0" "" "" "g.(29668505_29917463)_(31348635_31444480)del" "" "pathogenic (recessive)" "" "0000646861" "0" "90" "X" "28350000" "32110832" "del" "0" "00006" "DMD_066681" "g.(28200000_28500000)_(31986632_32235032)del" "" "{PMID:Korkut 2016:27087023}" "" "" "3.88 Mb deletion covering IL1RAPL1, GK, NR0B1 and part of DMD" "Germline/De novo (untested)" "" "" "0" "" "" "g.(28180000_28480000)_(31968515_32216915)del" "" "pathogenic (recessive)" "" "0000647294" "0" "90" "X" "25639200" "31993996" "del" "0" "00006" "DMD_066683" "g.(25400000_25878399)_(31987991_32000000)del" "" "{PMID:Heide 2015:25917374}" "" "hg19 25878399_31987991del" "6.09 Mb deletion including IL1RAPL1, DAX1, GK and last 37 exons of DMD" "De novo" "" "" "0" "X-inactivation CpG island 5\' CAG repeat AR gene 59%:41%" "" "" "" "pathogenic (recessive)" "" "0000647295" "0" "90" "X" "28954088" "31548351" "del" "0" "00006" "DMD_066684" "g.(28900000_29008175)_(31496701_31600000)del" "" "" "" "hg19 29008175–31496701del" "2.49 Mb deletion including IL1RAPL1, DAX1, GK and last 22 exons DMD" "Germline/De novo (untested)" "" "" "0" "X-inactivation CpG island 5\' CAG repeat AR gene muscle 50:50, blood 63:37" "" "" "" "pathogenic (recessive)" "" "0000682375" "0" "30" "X" "30326881" "30326881" "subst" "0.000226374" "02326" "NR0B1_000130" "g.30326881G>C" "" "" "" "NR0B1(NM_000475.4):c.600C>G (p.C200W), NR0B1(NM_000475.5):c.600C>G (p.C200W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682376" "0" "50" "X" "30327012" "30327012" "subst" "0.000104266" "01943" "NR0B1_000131" "g.30327012G>A" "" "" "" "NR0B1(NM_000475.4):c.469C>T (p.H157Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684821" "0" "30" "X" "30327105" "30327105" "subst" "0.00270253" "00004" "NR0B1_000032" "g.30327105C>T" "frequency 0.044" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.30308988C>T" "" "likely benign" "" "0000693547" "0" "90" "X" "30326748" "30326754" "del" "0" "02325" "NR0B1_000137" "g.30326748_30326754del" "" "" "" "NR0B1(NM_000475.5):c.728_734delTGCGGCC (p.L243Rfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000693548" "0" "30" "X" "30326984" "30326984" "subst" "0" "01943" "NR0B1_000138" "g.30326984C>A" "" "" "" "NR0B1(NM_000475.4):c.497G>T (p.R166L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000760911" "20" "70" "X" "30326352" "30326352" "subst" "0" "01164" "NR0B1_000039" "g.30326352C>T" "" "PMID: 11443184, PMID: 28741070, PMID: 23018754" "" "" "ACMG: Class 4 (PS4_MOD, PM1, PS3_SUP, PM2_SUP, PP3)" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000810280" "0" "50" "X" "30326954" "30326954" "subst" "0" "02327" "NR0B1_000139" "g.30326954T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856551" "0" "30" "X" "30326447" "30326447" "subst" "0" "01943" "NR0B1_000140" "g.30326447G>T" "" "" "" "NR0B1(NM_000475.4):c.1034C>A (p.P345Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856552" "0" "30" "X" "30326554" "30326554" "subst" "0" "01943" "NR0B1_000141" "g.30326554C>G" "" "" "" "NR0B1(NM_000475.4):c.927G>C (p.V309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 NR0B1 ## Count = 170 "{{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}}" "0000053096" "00014799" "90" "-1" "0" "1414" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_2_" "0000053098" "00014799" "90" "-1" "0" "1414" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_2_" "0000053100" "00014799" "90" "-1" "0" "1414" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_2_" "0000053102" "00014799" "90" "-1" "0" "1414" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_2_" "0000061564" "00014799" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_2_" "0000061566" "00014799" "90" "-1" "0" "1414" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_2_" "0000061567" "00014799" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_2_" "0000061568" "00014799" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_2_" "0000061569" "00014799" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_2_" "0000061571" "00014799" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_2_" "0000061572" "00014799" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_2_" "0000061573" "00014799" "99" "-1" "0" "1414" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_2_" "0000061574" "00014799" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_2_" "0000061575" "00014799" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_2_" "0000061578" "00014799" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_2_" "0000061579" "00014799" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_2_" "0000181563" "00014799" "50" "1273" "0" "1273" "0" "c.1273A>G" "r.(?)" "p.(Arg425Gly)" "2" "0000181564" "00014799" "50" "1274" "0" "1274" "0" "c.1274G>C" "r.(?)" "p.(Arg425Thr)" "2" "0000181565" "00014799" "50" "1289" "0" "1291" "0" "c.1289_1291del" "r.(?)" "p.(Asn430del)" "2" "0000181566" "00014799" "50" "1307" "0" "1307" "0" "c.1307T>G" "r.(?)" "p.(Leu436Arg)" "2" "0000181567" "00014799" "50" "1316" "0" "1316" "0" "c.1316T>G" "r.(?)" "p.(Ile439Ser)" "2" "0000181568" "00014799" "50" "1319" "0" "1319" "0" "c.1319A>T" "r.(?)" "p.(Asn440Ile)" "2" "0000181569" "00014799" "50" "1397" "0" "1397" "0" "c.1397T>G" "r.(?)" "p.(Leu466Arg)" "2" "0000181570" "00014799" "50" "1411" "0" "1411" "0" "c.1411T>C" "r.(?)" "p.(*471Glne*t*18)" "2" "0000181571" "00014799" "50" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(=)" "1" "0000181572" "00014799" "50" "785" "0" "785" "0" "c.785T>A" "r.(?)" "p.(Leu262Gln)" "1" "0000181573" "00014799" "50" "800" "0" "800" "0" "c.800G>C" "r.(?)" "p.(Arg267Pro)" "1" "0000181574" "00014799" "50" "805" "0" "807" "0" "c.805_807del" "r.(?)" "p.(Val269del)" "1" "0000181575" "00014799" "50" "805" "0" "807" "0" "c.805_807del" "r.(?)" "p.(Val269del)" "1" "0000181576" "00014799" "50" "833" "0" "833" "0" "c.833T>C" "r.(?)" "p.(Leu278Pro)" "1" "0000181577" "00014799" "50" "860" "0" "860" "0" "c.860T>G" "r.(?)" "p.(Val287Glu)" "1" "0000181578" "00014799" "50" "873" "0" "873" "0" "c.873G>C" "r.(?)" "p.(Trp291Cys)" "1" "0000181579" "00014799" "50" "884" "0" "884" "0" "c.884T>C" "r.(?)" "p.(Leu295Pro)" "1" "0000181580" "00014799" "50" "890" "0" "890" "0" "c.890T>C" "r.(?)" "p.(Leu297Pro)" "1" "0000181581" "00014799" "50" "898" "0" "898" "0" "c.898G>C" "r.(?)" "p.(Ala300Pro)" "1" "0000181582" "00014799" "50" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Ala300Val)" "1" "0000181583" "00014799" "50" "1129" "0" "1129" "0" "c.1129G>A" "r.(?)" "p.(Glu377Lys)" "1" "0000181584" "00014799" "50" "1142" "0" "1142" "0" "c.1142T>A" "r.(?)" "p.(Leu381His)" "1" "0000181585" "00014799" "50" "1146" "0" "1146" "0" "c.1146G>T" "r.(?)" "p.(Lys382Asn)" "1" "0000181586" "00014799" "50" "1154" "0" "1154" "0" "c.1154T>G" "r.(?)" "p.(Val385Gly)" "1" "0000181587" "00014799" "50" "1168" "814" "1168" "814" "c.1168+814G>A" "r.(?)" "p.(=)" "1" "0000181588" "00014799" "50" "1169" "-1015" "1169" "-1015" "c.1169-1015A>C" "r.(?)" "p.(=)" "2" "0000181589" "00014799" "50" "1169" "-982" "1169" "-982" "c.1169-982A>C" "r.(?)" "p.(=)" "2" "0000181590" "00014799" "50" "1202" "0" "1202" "0" "c.1202A>T" "r.(?)" "p.(Gln401Leu)" "2" "0000181591" "00014799" "90" "-1" "0" "1414" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_2_" "0000181592" "00014799" "90" "155" "0" "156" "0" "c.155_156del" "r.(?)" "p.fs*" "1" "0000181593" "00014799" "90" "1267" "0" "1267" "0" "c.1267del" "r.(?)" "p.(His423Metfs*14)" "2" "0000181594" "00014799" "90" "1282" "0" "1282" "0" "c.1282G>T" "r.(?)" "p.(Glu428*)" "2" "0000181595" "00014799" "90" "1292" "0" "1292" "0" "c.1292del" "r.(?)" "p.(Ser431Ilefs*6)" "2" "0000181596" "00014799" "90" "1292" "0" "1292" "0" "c.1292del" "r.(?)" "p.(Ser431Ilefs*6)" "2" "0000181597" "00014799" "90" "1301" "0" "1301" "0" "c.1301del" "r.(?)" "p.(Phe434SerfsTer3)" "2" "0000181598" "00014799" "90" "243" "0" "243" "0" "c.243C>G" "r.(?)" "p.(Tyr81*)" "1" "0000181599" "00014799" "90" "1346" "0" "1346" "0" "c.1346del" "r.(?)" "p.(Phe449SerfsTer13)" "2" "0000181600" "00014799" "90" "1364" "0" "1365" "0" "c.1364_1365del" "r.(?)" "p.(Thr455Serfs*5)" "2" "0000181601" "00014799" "90" "1376" "0" "1377" "0" "c.1376_1377del" "r.(?)" "p.fs*" "2" "0000181602" "00014799" "90" "1376" "0" "1377" "0" "c.1376_1377delinsG" "r.(?)" "p.fs*" "2" "0000181603" "00014799" "90" "273" "0" "273" "0" "c.273C>A" "r.(?)" "p.(Tyr91*)" "1" "0000181604" "00014799" "90" "273" "0" "274" "0" "c.273_274delinsT" "r.(?)" "p.fs*" "1" "0000181605" "00014799" "90" "315" "0" "316" "0" "c.315_316insT" "r.(?)" "p.fs*" "1" "0000181606" "00014799" "90" "327" "0" "327" "0" "c.327C>A" "r.(?)" "p.(Cys109*)" "1" "0000181607" "00014799" "90" "343" "0" "343" "0" "c.343del" "r.(?)" "p.(Val115TrpfsTer149)" "1" "0000181608" "00014799" "90" "373" "0" "376" "0" "c.373_376dup" "r.(?)" "p.fs*" "1" "0000181609" "00014799" "50" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Val126Met)" "1" "0000181610" "00014799" "90" "390" "0" "390" "0" "c.390C>A" "r.(?)" "p.(Tyr130*)" "1" "0000181611" "00014799" "90" "-1" "0" "1414" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_2_" "0000181612" "00014799" "90" "395" "0" "395" "0" "c.395dup" "r.(?)" "p.(Cys132TrpfsTer6)" "1" "0000181613" "00014799" "90" "404" "0" "404" "0" "c.404del" "r.(?)" "p.(Cys135Leufs*129)" "1" "0000181614" "00014799" "90" "405" "0" "405" "0" "c.405del" "r.(?)" "p.(Cys135TrpfsTer129)" "1" "0000181615" "00014799" "90" "416" "0" "416" "0" "c.416dup" "r.(?)" "p.(His139GlnfsTer14)" "1" "0000181616" "00014799" "90" "423" "0" "423" "0" "c.423del" "r.(?)" "p.(Gln142ArgfsTer122)" "1" "0000181617" "00014799" "90" "441" "0" "441" "0" "c.441C>G" "r.(?)" "p.(Tyr147*)" "1" "0000181618" "00014799" "90" "457" "0" "457" "0" "c.457del" "r.(?)" "p.(Ser153GlnfsTer111)" "1" "0000181619" "00014799" "90" "458" "0" "458" "0" "c.458C>G" "r.(?)" "p.(Ser153*)" "1" "0000181620" "00014799" "90" "477" "0" "477" "0" "c.477del" "r.(?)" "p.(Pro160ArgfsTer104)" "1" "0000181621" "00014799" "90" "495" "0" "496" "0" "c.495_496dup" "r.(?)" "p.fs*" "1" "0000181622" "00014799" "90" "-1" "0" "1414" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_2_" "0000181623" "00014799" "90" "498" "0" "498" "0" "c.498G>A" "r.(?)" "p.(=)" "1" "0000181624" "00014799" "90" "501" "0" "501" "0" "c.501del" "r.(?)" "p.(Gly169AlafsTer95)" "1" "0000181625" "00014799" "90" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Trp171*)" "1" "0000181626" "00014799" "90" "513" "0" "513" "0" "c.513G>A" "r.(?)" "p.(Trp171*)" "1" "0000181627" "00014799" "90" "513" "0" "513" "0" "c.513G>A" "r.(?)" "p.(Trp171*)" "1" "0000181628" "00014799" "90" "516" "0" "516" "0" "c.516G>A" "r.(?)" "p.(Trp172*)" "1" "0000181629" "00014799" "90" "518" "0" "540" "0" "c.518_540del" "r.(?)" "p.fs*" "1" "0000181630" "00014799" "90" "543" "0" "543" "0" "c.543del" "r.(?)" "p.(Gly183ValfsTer81)" "1" "0000181631" "00014799" "90" "545" "0" "546" "0" "c.545_546insACCC" "r.(?)" "p.fs*" "1" "0000181632" "00014799" "90" "548" "0" "548" "0" "c.548del" "r.(?)" "p.(Gly183ValfsTer81)" "1" "0000181633" "00014799" "90" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Gln37*)" "1" "0000181634" "00014799" "90" "548" "0" "548" "0" "c.548dup" "r.(?)" "p.(Lys184Ter)" "1" "0000181635" "00014799" "90" "551" "0" "552" "0" "c.551_552del" "r.(?)" "p.fs*" "1" "0000181636" "00014799" "90" "564" "0" "567" "0" "c.564_567dup" "r.(?)" "p.fs*" "1" "0000181637" "00014799" "90" "573" "0" "574" "0" "c.573_574insCCGG" "r.(?)" "p.(Ala191Profs*14)" "1" "0000181638" "00014799" "90" "585" "0" "585" "0" "c.585delinsCC" "r.(?)" "p.fs*" "1" "0000181639" "00014799" "90" "591" "0" "591" "0" "c.591C>A" "r.(?)" "p.(Tyr197*)" "1" "0000181640" "00014799" "90" "-1" "0" "1414" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_2_" "0000181641" "00014799" "90" "629" "0" "629" "0" "c.629del" "r.(?)" "p.(Gly210AlafsTer54)" "1" "0000181642" "00014799" "90" "629" "0" "629" "0" "c.629dup" "r.(?)" "p.(Ser211GlnfsTer88)" "1" "0000181643" "00014799" "90" "702" "0" "702" "0" "c.702del" "r.(?)" "p.(Trp235GlyfsTer29)" "1" "0000181644" "00014799" "90" "704" "0" "704" "0" "c.704G>A" "r.(?)" "p.(Trp235*)" "1" "0000181645" "00014799" "90" "704" "0" "704" "0" "c.704G>A" "r.(?)" "p.(Trp235*)" "1" "0000181646" "00014799" "90" "704" "0" "704" "0" "c.704G>A" "r.(?)" "p.(Trp235*)" "1" "0000181647" "00014799" "90" "708" "0" "708" "0" "c.708G>A" "r.(?)" "p.(Trp236*)" "1" "0000181648" "00014799" "90" "739" "0" "739" "0" "c.739dup" "r.(?)" "p.(Ala247Glyfs*52)" "1" "0000181649" "00014799" "90" "752" "0" "762" "0" "c.752_762del" "r.(?)" "p.(Pro251LeufsTer44)" "1" "0000181650" "00014799" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Gln252*)" "1" "0000181651" "00014799" "90" "754" "0" "754" "0" "c.754del" "r.(?)" "p.(Gln252ArgfsTer12)" "1" "0000181652" "00014799" "90" "772" "0" "773" "0" "c.772_773insACCCTCAGCGGGC" "r.(?)" "p.fs*" "1" "0000181653" "00014799" "90" "116" "0" "116" "0" "c.116G>A" "r.(?)" "p.(Trp39*)" "1" "0000181654" "00014799" "90" "788" "0" "788" "0" "c.788T>A" "r.(?)" "p.(Leu263*)" "1" "0000181655" "00014799" "90" "813" "0" "813" "0" "c.813C>G" "r.(?)" "p.(Tyr271*)" "1" "0000181656" "00014799" "90" "839" "0" "839" "0" "c.839del" "r.(?)" "p.(Leu280ArgfsTer92)" "1" "0000181657" "00014799" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Gln283*)" "1" "0000181658" "00014799" "90" "119" "0" "119" "0" "c.119del" "r.(?)" "p.(Gly40AlafsTer45)" "1" "0000181659" "00014799" "90" "926" "0" "927" "0" "c.926_927del" "r.(?)" "p.fs*" "1" "0000181660" "00014799" "90" "935" "0" "935" "0" "c.935del" "r.(?)" "p.(Ser312TrpfsTer60)" "1" "0000181661" "00014799" "90" "942" "0" "943" "0" "c.942_943dup" "r.(?)" "p.fs*" "1" "0000181662" "00014799" "90" "986" "0" "987" "0" "c.986_987delinsA" "r.(?)" "p.fs*" "1" "0000181663" "00014799" "90" "814" "0" "856" "0" "c.814_856delinsGCAACTTGGTGCGCAACT" "r.(?)" "p.(Leu272Alafs*92)" "1" "0000181664" "00014799" "90" "1069" "0" "1069" "0" "c.1069C>T" "r.(?)" "p.(Gln357*)" "1" "0000181665" "00014799" "90" "129" "0" "129" "0" "c.129C>A" "r.(?)" "p.(Cys43*)" "1" "0000181666" "00014799" "90" "1107" "0" "1107" "0" "c.1107G>A" "r.(?)" "p.(Trp369*)" "1" "0000181667" "00014799" "90" "1130" "0" "1130" "0" "c.1130del" "r.(?)" "p.(Glu377GlyfsTer21)" "1" "0000181668" "00014799" "90" "1144" "0" "1158" "0" "c.1144_1158del" "r.(?)" "p.fs*" "1" "0000181669" "00014799" "90" "1326" "0" "1326" "0" "c.1326del" "r.(?)" "p.(Asn442LysfsTer20)" "1" "0000181670" "00014799" "90" "1169" "-1572" "1836" "0" "c.1169-1572_*423delinsTTTATTTGGAAATATATATAATTTCCA" "r.?" "p.?" "2" "0000181671" "00014799" "90" "145" "0" "145" "0" "c.145del" "r.(?)" "p.(Val49TrpfsTer36)" "1" "0000181672" "00014799" "90" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Gln395*)" "2" "0000181673" "00014799" "90" "1197" "0" "1197" "0" "c.1197C>A" "r.(?)" "p.(Tyr399*)" "2" "0000181674" "00014799" "90" "1231" "0" "1234" "0" "c.1231_1234del" "r.(?)" "p.fs*" "2" "0000181675" "00014799" "90" "1241" "0" "1253" "0" "c.1241_1253del" "r.(?)" "p.(His414Argfs*19)" "2" "0000181676" "00014799" "90" "1248" "0" "1251" "0" "c.1248_1251dup" "r.(?)" "p.fs*" "2" "0000181677" "00014799" "90" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(Gln420*)" "2" "0000181678" "00014799" "90" "1266" "0" "1267" "0" "c.1266_1267dup" "r.(?)" "p.fs*" "2" "0000181679" "00014799" "90" "591" "0" "591" "0" "c.591C>A" "r.(?)" "p.(Tyr197*)" "1" "0000235412" "00014799" "50" "-1" "0" "1414" "0" "c.(?_-1)_(*1_?)dup" "r.?" "p.?" "_1_2_" "0000296608" "00014799" "10" "498" "0" "498" "0" "c.498G>A" "r.(?)" "p.(Arg166=)" "" "0000300409" "00014799" "10" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(Cys38=)" "" "0000300410" "00014799" "90" "1168" "1" "1168" "1" "c.1168+1G>T" "r.spl?" "p.?" "" "0000300411" "00014799" "50" "1274" "0" "1274" "0" "c.1274G>T" "r.(?)" "p.(Arg425Ile)" "" "0000300412" "00014799" "90" "1319" "0" "1319" "0" "c.1319A>T" "r.(?)" "p.(Asn440Ile)" "" "0000300413" "00014799" "90" "315" "0" "315" "0" "c.315G>T" "r.(?)" "p.(Trp105Cys)" "" "0000300414" "00014799" "10" "498" "0" "498" "0" "c.498G>A" "r.(?)" "p.(Arg166=)" "" "0000300415" "00014799" "90" "765" "0" "765" "0" "c.765C>A" "r.(?)" "p.(Cys255Ter)" "" "0000304510" "00014799" "30" "1410" "0" "1410" "0" "c.1410A>G" "r.(?)" "p.(Ile470Met)" "" "0000304511" "00014799" "30" "174" "0" "174" "0" "c.174G>A" "r.(?)" "p.(Arg58=)" "" "0000304512" "00014799" "30" "339" "0" "339" "0" "c.339C>A" "r.(?)" "p.(Pro113=)" "" "0000304513" "00014799" "10" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Val126Met)" "" "0000304514" "00014799" "30" "521" "0" "521" "0" "c.521G>C" "r.(?)" "p.(Arg174Pro)" "" "0000333568" "00014799" "30" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Val126Met)" "" "0000486557" "00014799" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_2_" "0000575518" "00014799" "50" "1274" "0" "1274" "0" "c.1274G>C" "r.(?)" "p.(Arg425Thr)" "" "0000575519" "00014799" "30" "1153" "0" "1153" "0" "c.1153G>T" "r.(?)" "p.(Val385Leu)" "" "0000575520" "00014799" "90" "848" "0" "849" "0" "c.848_849insAAAAAA" "r.(?)" "p.(Gln283_Leu284insLysLys)" "" "0000575522" "00014799" "30" "600" "0" "600" "0" "c.600C>G" "r.(?)" "p.(Cys200Trp)" "" "0000575524" "00014799" "90" "323" "0" "323" "0" "c.323C>A" "r.(?)" "p.(Ser108Ter)" "" "0000575525" "00014799" "30" "16" "0" "16" "0" "c.16C>A" "r.(?)" "p.(His6Asn)" "" "0000619454" "00014799" "30" "1284" "0" "1284" "0" "c.1284A>T" "r.(?)" "p.(Glu428Asp)" "" "0000619455" "00014799" "70" "1082" "0" "1082" "0" "c.1082T>A" "r.(?)" "p.(Ile361Asn)" "" "0000646860" "00014799" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000646861" "00014799" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000647294" "00014799" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000647295" "00014799" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000682375" "00014799" "30" "600" "0" "600" "0" "c.600C>G" "r.(?)" "p.(Cys200Trp)" "" "0000682376" "00014799" "50" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(His157Tyr)" "" "0000684821" "00014799" "30" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Val126Met)" "" "0000693547" "00014799" "90" "728" "0" "734" "0" "c.728_734del" "r.(?)" "p.(Leu243ArgfsTer19)" "" "0000693548" "00014799" "30" "497" "0" "497" "0" "c.497G>T" "r.(?)" "p.(Arg166Leu)" "" "0000760911" "00014799" "70" "1129" "0" "1129" "0" "c.1129G>A" "r.(?)" "p.(Glu377Lys)" "" "0000810280" "00014799" "50" "527" "0" "527" "0" "c.527A>G" "r.(?)" "p.(Tyr176Cys)" "" "0000856551" "00014799" "30" "1034" "0" "1034" "0" "c.1034C>A" "r.(?)" "p.(Pro345Gln)" "" "0000856552" "00014799" "30" "927" "0" "927" "0" "c.927G>C" "r.(?)" "p.(Val309=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 141 "{{screeningid}}" "{{variantid}}" "0000029705" "0000053096" "0000029706" "0000053098" "0000029707" "0000053100" "0000029708" "0000053102" "0000034471" "0000061564" "0000034473" "0000061566" "0000034474" "0000061567" "0000034475" "0000061568" "0000034476" "0000061569" "0000034478" "0000061571" "0000034479" "0000061572" "0000034480" "0000061573" "0000034481" "0000061574" "0000034482" "0000061575" "0000034484" "0000061578" "0000034485" "0000061579" "0000112861" "0000181591" "0000112862" "0000181611" "0000112863" "0000181622" "0000112864" "0000181633" "0000112865" "0000181571" "0000112866" "0000181653" "0000112867" "0000181658" "0000112868" "0000181665" "0000112869" "0000181671" "0000112870" "0000181592" "0000112871" "0000181598" "0000112872" "0000181603" "0000112873" "0000181604" "0000112874" "0000181605" "0000112875" "0000181606" "0000112876" "0000181607" "0000112877" "0000181608" "0000112878" "0000181609" "0000112878" "0000181679" "0000112879" "0000181610" "0000112880" "0000181612" "0000112881" "0000181613" "0000112882" "0000181614" "0000112883" "0000181615" "0000112884" "0000181616" "0000112885" "0000181617" "0000112886" "0000181618" "0000112887" "0000181619" "0000112888" "0000181620" "0000112889" "0000181621" "0000112890" "0000181623" "0000112891" "0000181624" "0000112892" "0000181625" "0000112893" "0000181626" "0000112894" "0000181627" "0000112895" "0000181628" "0000112896" "0000181629" "0000112897" "0000181630" "0000112898" "0000181631" "0000112899" "0000181632" "0000112900" "0000181634" "0000112901" "0000181635" "0000112902" "0000181636" "0000112903" "0000181637" "0000112904" "0000181638" "0000112905" "0000181639" "0000112906" "0000181640" "0000112907" "0000181641" "0000112908" "0000181642" "0000112909" "0000181643" "0000112910" "0000181644" "0000112911" "0000181645" "0000112912" "0000181646" "0000112913" "0000181647" "0000112914" "0000181648" "0000112915" "0000181649" "0000112916" "0000181650" "0000112917" "0000181651" "0000112918" "0000181652" "0000112919" "0000181572" "0000112920" "0000181654" "0000112921" "0000181573" "0000112922" "0000181574" "0000112923" "0000181575" "0000112924" "0000181655" "0000112925" "0000181576" "0000112926" "0000181656" "0000112927" "0000181657" "0000112928" "0000181577" "0000112929" "0000181578" "0000112930" "0000181579" "0000112931" "0000181580" "0000112932" "0000181581" "0000112933" "0000181582" "0000112934" "0000181659" "0000112935" "0000181660" "0000112936" "0000181661" "0000112937" "0000181662" "0000112938" "0000181663" "0000112939" "0000181664" "0000112940" "0000181666" "0000112941" "0000181583" "0000112942" "0000181667" "0000112943" "0000181584" "0000112944" "0000181668" "0000112945" "0000181585" "0000112946" "0000181586" "0000112947" "0000181587" "0000112948" "0000181669" "0000112949" "0000181670" "0000112950" "0000181588" "0000112951" "0000181589" "0000112952" "0000181672" "0000112953" "0000181673" "0000112954" "0000181590" "0000112955" "0000181674" "0000112956" "0000181675" "0000112957" "0000181676" "0000112958" "0000181677" "0000112959" "0000181678" "0000112960" "0000181593" "0000112961" "0000181563" "0000112962" "0000181564" "0000112963" "0000181594" "0000112964" "0000181565" "0000112965" "0000181595" "0000112966" "0000181596" "0000112967" "0000181597" "0000112968" "0000181566" "0000112969" "0000181567" "0000112970" "0000181568" "0000112971" "0000181599" "0000112972" "0000181600" "0000112973" "0000181601" "0000112974" "0000181602" "0000112975" "0000181569" "0000112976" "0000181570" "0000144611" "0000235412" "0000240882" "0000486557" "0000290208" "0000646860" "0000290209" "0000646861" "0000290607" "0000647294" "0000290608" "0000647295" "0000309919" "0000684821" "0000360806" "0000760911"