### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = IL1RAPL1)
# 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}}"
"IL1RAPL1"	"interleukin 1 receptor accessory protein-like 1"	"X"	"p22.1-p21.3"	"no"	"NG_008292.1"	"UD_132119025607"	""	"http://www.LOVD.nl/IL1RAPL1"	""	"1"	"5996"	"11141"	"300206"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"http://databases.lovd.nl/shared/refseq/IL1RAPL1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00002"	"2009-03-06 00:00:00"	"00006"	"2015-01-25 11:41:03"	"00000"	"2025-11-01 13:22:20"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000075"	"IL1RAPL1"	"interleukin 1 receptor accessory protein-like 1"	"001"	"NM_014271.3"	""	"NP_055086.1"	""	""	""	"-508"	"2171"	"2091"	"28605681"	"29974017"	"00002"	"2012-05-11 13:12:01"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 14
"{{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"	""	""
"00138"	"autism"	"autism"	""	"209850"	""	""	""	"00084"	"2013-06-04 18:17:33"	"00006"	"2015-12-08 23:54:35"
"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"	"2024-11-23 09:38:12"
"01114"	"MRX21;MRX34"	"mental retardation, X-linked, type 21/34 (MRX21;MRX34)"	"XLR"	"300143"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"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"
"05330"	"TSC"	"tuberous sclerosis"	""	""	""	""	""	"00006"	"2017-09-19 09:35:08"	"00006"	"2022-08-19 09:49:37"
"05378"	"BMD/DMD"	"dystrophinopathy (BMD or DMD)"	""	""	""	""	""	"00006"	"2018-01-13 20:18:25"	"00006"	"2019-03-26 16:49:54"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"IL1RAPL1"	"00139"
"IL1RAPL1"	"00187"
"IL1RAPL1"	"01114"


## Individuals ## Do not remove or alter this header ##
## Count = 53
"{{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}}"
"00000019"	""	""	""	"1"	""	"00004"	"{PMID:Almomani 2011:21102627}"	""	""	""	""	""	"0"	""	""	""	""
"00000208"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00000209"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00017841"	""	""	""	"3"	""	"00740"	"{PMID:Ramos-Brossier 2015:25305082}, {DOI:Ramos-Brossier 2015:10.1093/hmg/ddu523}"	"3-generation family, 3 affecteds (1F, 2M), unaffected carrier (grand)mother"	"M"	"no"	""	""	"0"	""	""	""	""
"00017846"	""	""	""	"1"	""	"00740"	"{PMID:Ramos-Brossier 2015:25305082}, {DOI:Ramos-Brossier 2015:10.1093/hmg/ddu523}"	"2-generation family, affected male, carrier mother/sister"	"M"	"no"	""	""	"0"	""	""	""	""
"00017851"	""	""	""	"2"	""	"00740"	"{PMID:Tarpey 2009:19377476}; {PMID:Ramos-Brossier 2015:25305082}, {DOI:Ramos-Brossier 2015:10.1093/hmg/ddu523}"	"2-generation family, 2 affected males, carrier mother"	"M"	"no"	"(France)"	""	"0"	""	""	""	""
"00017895"	""	""	""	"1"	""	"00124"	"{PMID:Tarpey 2009:19377476}"	""	"M"	"?"	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	"19377158-Pat?"
"00017896"	""	""	""	"1"	""	"00124"	"{PMID:Tarpey 2009:19377476}"	""	"M"	"?"	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	"19377159-Pat?"
"00017898"	""	""	""	"3"	""	"00006"	"{PMID:Carrie 1999:10471494}"	"2-generation family, 3 affected brothers"	"M"	"no"	""	""	"0"	""	""	""	""
"00017899"	""	""	""	"1"	""	"00006"	"{PMID:Carrie 1999:10471494}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00029652"	""	""	""	"2"	""	"00006"	"{PMID:Ramos-Brossier 2015:25305082}, {DOI:Ramos-Brossier 2015:10.1093/hmg/ddu523}"	"family, 2 affected brothers"	"M"	""	""	""	"0"	""	""	""	""
"00029653"	""	""	""	"1"	""	"00006"	"{PMID:Piton 2008:18801879}, {DOI:Piton 2008:10.1093/hmg/ddn300}"	""	"F"	"no"	"Canada"	""	"0"	""	""	"French Canadian"	""
"00029654"	""	""	""	"1"	""	"00006"	"{PMID:Piton 2008:18801879}, {DOI:Piton 2008:10.1093/hmg/ddn300}"	"142 ASD cases"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Anglo-Saxon"	""
"00029655"	""	""	""	"1"	""	"00006"	"{PMID:Piton 2008:18801879}, {DOI:Piton 2008:10.1093/hmg/ddn300}"	"190 controls"	"M"	""	"Canada"	""	"0"	""	""	"French Canadian"	""
"00029656"	""	""	""	"1"	""	"00006"	"{PMID:Piton 2008:18801879}, {DOI:Piton 2008:10.1093/hmg/ddn300}"	""	"M"	""	"Canada"	""	"0"	""	""	"French Canadian"	""
"00029657"	""	""	""	"1"	""	"00006"	"{PMID:Piton 2008:18801879}, {DOI:Piton 2008:10.1093/hmg/ddn300}"	""	"M"	""	"Canada"	""	"0"	""	""	"French Canadian"	""
"00029658"	""	""	""	"1"	""	"00006"	"{PMID:Piton 2008:18801879}, {DOI:Piton 2008:10.1093/hmg/ddn300}"	""	"F"	""	"Canada"	""	"0"	""	""	"French Canadian"	""
"00029659"	""	""	""	"3"	""	"00006"	"{PMID:Piton 2008:18801879}, {DOI:Piton 2008:10.1093/hmg/ddn300}"	"2-generation family, 3 affected brothers, unaffected carrier mother"	"M"	""	""	""	"0"	""	""	""	""
"00029661"	""	""	""	"1"	""	"00006"	"{PMID:Carrie 1999:10471494}"	""	"M"	""	"(France)"	""	"0"	""	""	""	""
"00029662"	""	""	""	"1"	""	"00006"	"{PMID:Carrie 1999:10471494}"	""	"M"	""	""	""	"0"	""	""	""	""
"00029663"	""	""	""	"1"	""	"00006"	"{PMID:Carrie 1999:10471494}"	""	"M"	""	""	""	"0"	""	""	""	""
"00029664"	""	""	""	"1"	""	"00006"	"{PMID:Carrie 1999:10471494}"	""	"M"	""	""	""	"0"	""	""	""	""
"00029665"	""	""	""	"1"	""	"00006"	"{PMID:Carrie 1999:10471494}"	""	"M"	""	""	""	"0"	""	""	""	""
"00029674"	""	""	""	"4"	""	"00006"	"{PMID:Tabolacci 2006:16470793}, {PMID:Kozak 1993:8230164}"	"3-generation family, 4 affected males, 5 carrier females"	""	"no"	"Italy"	""	"0"	""	""	""	""
"00029675"	""	""	""	"1"	""	"00006"	"{PMID:de Brouwer 2007:17221867}, {PMID:Kerr 1992:1605217}"	""	"M"	""	""	""	"0"	""	""	"European"	""
"00029677"	""	""	""	"4"	""	"00006"	"{PMID:Nawara 2008:19012350}"	"4-generation family, 4 affected males, 4 carrier females"	"M"	""	"France"	""	"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"	""	""	""	""
"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"	""	""	""	""
"00122371"	""	""	""	"3"	""	"00006"	"{PMID:Jin 2000:10757639}, {PMID:Greener 2002:12107815}"	"2-generation family, 3 affected brothers (12y, 14y, 17y)"	"M"	"no"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"10757639-Fam4482"
"00168113"	""	""	""	"1"	""	"02537"	"{PMID:Du 2018:30555518}"	""	"M"	""	"China"	""	"0"	""	""	""	""
"00183136"	""	""	""	"3"	""	"00006"	"{PMID:Hu 2016:25644381}"	"family, 3 affected, 1 unaffected heterozygous carrier female"	"M"	""	""	""	"0"	""	""	""	"25644381-FamN14"
"00269499"	""	""	""	"1"	""	"00006"	"{PMID:Mikhail 2011:22031302}, {DOI:Mikhail 2011:10.1002/ajmg.a.34177}"	""	"M"	""	""	""	"0"	""	""	""	"Pat8"
"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"
"00295985"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00296775"	""	""	""	"2"	""	"00006"	"{PMID:Redin 2014:25167861}"	"analysis 106 patients; 2-generation family, 2 affected brothers, unaffected carrier mother"	"M"	""	"France"	""	"0"	""	""	""	"APN-82"
"00307743"	""	""	""	"1"	""	"00006"	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	"M"	""	""	""	"0"	""	""	""	"UK10K_FINDWGA5410964"
"00307744"	""	""	""	"1"	""	"00006"	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	"M"	""	""	""	"0"	""	""	""	"UK10K_FINDWGA5411107"
"00307745"	""	""	""	"1"	""	"00006"	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	"M"	""	""	""	"0"	""	""	""	"UK10K_FINDWGA5410971"
"00374764"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-151"
"00428767"	""	""	""	"1"	""	"00006"	"{PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	""	""	"0"	""	""	""	"Pat21"
"00448785"	""	""	""	"3"	""	"00006"	"{PMID:Fu 2024:38419979}"	"2-generation family, affected mother/daughter/son"	"M"	""	"United States"	""	"0"	""	""	""	"patient"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 82
"{{individualid}}"	"{{diseaseid}}"
"00000019"	"00138"
"00000019"	"05330"
"00000019"	"05378"
"00000208"	"01157"
"00000209"	"01157"
"00017841"	"00139"
"00017846"	"00139"
"00017851"	"00139"
"00017895"	"00187"
"00017896"	"00187"
"00017898"	"00187"
"00017899"	"00187"
"00029652"	"00139"
"00029653"	"00138"
"00029654"	"00138"
"00029655"	"00000"
"00029656"	"00138"
"00029657"	"00000"
"00029658"	"00000"
"00029659"	"00139"
"00029661"	"00187"
"00029662"	"02144"
"00029662"	"04147"
"00029663"	"00139"
"00029663"	"02144"
"00029663"	"02239"
"00029664"	"00139"
"00029664"	"02144"
"00029665"	"00139"
"00029665"	"02144"
"00029674"	"00187"
"00029675"	"00187"
"00029677"	"00187"
"00034404"	"00187"
"00034404"	"02144"
"00034404"	"02239"
"00034406"	"00187"
"00034406"	"02144"
"00034406"	"02239"
"00034407"	"00187"
"00034407"	"02144"
"00034407"	"02239"
"00034408"	"00187"
"00034408"	"02144"
"00034408"	"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"
"00122371"	"02144"
"00122371"	"02239"
"00122371"	"05324"
"00168113"	"00138"
"00183136"	"00187"
"00269499"	"00198"
"00289039"	"00198"
"00289040"	"00198"
"00289438"	"00139"
"00289439"	"00139"
"00295985"	"00198"
"00296775"	"00139"
"00307743"	"00139"
"00307744"	"00139"
"00307745"	"00139"
"00374764"	"00198"
"00428767"	"05611"
"00448785"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00138, 00139, 00187, 00198, 01114, 01157, 02144, 02239, 04147, 05324, 05330, 05378, 05611
## Count = 76
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{Phenotype/Development/Cognition}}"	"{{Phenotype/Seizures}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/TSC}}"	"{{Phenotype/Development_delay_global/HPO_0001263}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Intellectual_dis/HPO_0001249}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000016197"	"00139"	"00017841"	"00740"	"Familial, X-linked recessive"	""	"see paper; PatII2 (30y) moderate ID, autistic-like behavior extraverted, aggressive, language/motor delay, large hands, big ears, long face, synophrys; PatII3 (43y) mild ID, no major behavioral problems, autistic-like behavior, language/motor delay, facial dysmorphism, big ears, round\r\nface, neurological examination normal; PatIII2 (female, 10y) ID needing special care"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000016199"	"00139"	"00017846"	"00740"	"Familial, X-linked recessive"	"02y03m"	"see paper; 9m-some delay motor development, 9m-sitting, 25m-walking; 27m speaks only three words, formal developmental testing confirmed delay, height 84 cm (below 3rd percentile), weight 12.7 kg (25th percentile), head circumference 48.4 cm (25th percentile), mild facial dysmorphism, prominent forehead, generalized joint hyperlaxity, normal male genitalia, skin significant eczema, brain MRI normal; mother learning difficulties, she attended special education; sister with learning difficulties"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000016204"	"00139"	"00017851"	"00740"	"Familial, X-linked recessive"	""	"see paper; PatII1 (deceased) moderate ID (IQ 36–51), gynecomastia, obesity, small testes, normal height (169 cm)/head circumference (54.5 cm), sexual deviant behavior (treated with anti-androgen medication and necessitating living in care); PatII2 (57y) mild ID, obesity, significant behavioral issues, normal head circumference,\r\nnormal facial features, gynecomastia, normal hands and feet; mother I-2 phenotypically normal, normal height (153 cm)/head circumference (54.2 cm), low average intelligence"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000016248"	"00187"	"00017895"	"00124"	"Familial, X-linked recessive"	""	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000016249"	"00187"	"00017896"	"00124"	"Familial, X-linked recessive"	""	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000016251"	"00187"	"00017898"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000016252"	"00187"	"00017899"	"00006"	"Familial, X-linked dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000025675"	"00139"	"00029652"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000025676"	"00138"	"00029653"	"00006"	"Isolated (sporadic)"	""	"see paper; Asperger, autism, no language delay, no intellecutal disability, functioning borderline range intelligence (5h centile Wechsler Intelligence Scale for Children), fluid intelligence around the 25th centile (Raven Matrices Test), adaptation level below the 2nd centile (Vinland Adaptive Behavior Scale)."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000025677"	"00139"	"00029659"	"00006"	"Familial, X-linked recessive"	""	"see paper; PatII3 (8y) intellectual disability, autistic signs (too severely affected to be formally tested), .."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000025678"	"00187"	"00029661"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"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"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000025688"	"00187"	"00029674"	"00006"	"Familial"	""	"see paper; 2 females with learning difficulties"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000025689"	"00187"	"00029675"	"00006"	"Familial"	""	"see paper"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000025691"	"00187"	"00029677"	"00006"	"Familial, X-linked recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"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)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000038983"	"01157"	"00000208"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)"	""	""	""	""	"3w"	""	""	""	""	""	""	""	""	""	""	""	""
"0000038984"	"01157"	"00000209"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)"	""	""	""	""	"07y04m"	""	""	""	""	""	""	""	""	""	""	""	""
"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)"	""
"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)"	""
"0000094728"	"05324"	"00122371"	"00006"	"Familial, X-linked"	"17y"	"all mild myopathy with clear Becker-type course, glycerol kinase deficiency, adrenal\r\nhypoplasia; all  bilateral undescended testes (surgically corrected); eldest 12y-developed epilepsy (treated successfully for 2y, seizures recently recurred; two younger boys short stature (heights below 3rd-centile, eldest in 10th-centile)all mild\r\nmental retardation, younger boys IQ 66–84 (mean 74) and IQ 64–82\r\n(mean 72), eldest expected to perform\r\nsimilarly"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"BMD;GKD;AHC"	"dystrophy, muscular, Duchenne type (DMD)"	""
"0000143890"	"00187"	"00183136"	"00006"	"Familial, X-linked recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"mental retardation"	""
"0000207330"	"00198"	"00269499"	"00006"	"Unknown"	"6y"	"see paper; ..., developmental delay, intellectual disability, no behavioral problems, no seizures, language delay, microcephaly, triangular shaped face, mild hypertelorism, upslanted palpebral fissures, diminished tone and strength"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"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"	""
"0000223452"	"00198"	"00295985"	"01164"	"Unknown"	""	"Abnormality of nervous system physiology (HP:0012638); Motor delay (HP:0001270); Neurological speech impairment (HP:0002167); Language impairment (HP:0002463)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000224174"	"00139"	"00296775"	"00006"	"Familial, X-linked recessive"	""	"see paper; ..., moderate intellectual disability"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000269974"	"00198"	"00374764"	"00006"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000319651"	"05611"	"00428767"	"00006"	"Familial, X-linked"	"18y02m"	"see paper; ..., speech delay, no motor delay, intellectual disability, autistic traits, behavioral problems, dysmorphism, hypospadias"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000337961"	"00198"	"00448785"	"00006"	"Familial"	"02y"	"see paper; ..., global developmental delay, axial hypotonia, poor head control, inability to sit unassisted/walk, elevated triglycerides, abnormal accumulation glycerol; carrier mother/younger sister developmental delay"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"GKD"	"pseudo-hypertriglyceridemia"	""


## Screenings ## Do not remove or alter this header ##
## Count = 53
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000019"	"00000019"	"1"	"00004"	""	"2012-05-11 13:18:40"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000209"	"00000208"	"1"	"00037"	"00001"	"2012-09-13 12:02:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000000210"	"00000209"	"1"	"00037"	"00001"	"2012-09-13 12:09:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000017822"	"00017841"	"1"	"00740"	"00740"	"2014-07-04 16:11:15"	""	""	"PCRlr"	"DNA"	""	""
"0000017827"	"00017846"	"1"	"00740"	"00740"	"2014-07-04 16:50:33"	""	""	"arraySNP"	"DNA"	""	""
"0000017832"	"00017851"	"1"	"00740"	"00740"	"2014-07-04 18:51:22"	"00006"	"2014-10-01 22:23:39"	"SEQ;SEQ-NG"	"DNA"	""	""
"0000017877"	"00017895"	"1"	"00124"	"00006"	"2009-04-08 14:01:02"	"00006"	"2009-05-19 12:33:15"	"SEQ"	"DNA"	""	""
"0000017878"	"00017896"	"1"	"00124"	"00006"	"2009-04-08 14:01:02"	"00006"	"2009-05-19 12:33:15"	"SEQ"	"DNA"	""	""
"0000017880"	"00017898"	"1"	"00006"	"00006"	"2014-07-12 21:41:58"	""	""	"DGGE;SEQ"	"DNA;RNA"	""	""
"0000017881"	"00017899"	"1"	"00006"	"00006"	"2014-07-12 21:57:54"	""	""	"PCR"	"DNA"	""	""
"0000029695"	"00029652"	"1"	"00006"	"00006"	"2015-01-25 12:19:20"	""	""	"SEQ"	"DNA"	""	""
"0000029696"	"00029653"	"1"	"00006"	"00006"	"2015-01-25 15:53:08"	""	""	"SEQ"	"DNA"	""	""
"0000029697"	"00029654"	"1"	"00006"	"00006"	"2015-01-25 15:59:55"	""	""	"SEQ"	"DNA"	""	""
"0000029698"	"00029655"	"1"	"00006"	"00006"	"2015-01-25 16:04:58"	""	""	"SEQ"	"DNA"	""	""
"0000029699"	"00029656"	"1"	"00006"	"00006"	"2015-01-25 16:08:21"	""	""	"SEQ"	"DNA"	""	""
"0000029700"	"00029657"	"1"	"00006"	"00006"	"2015-01-25 16:11:21"	""	""	"SEQ"	"DNA"	""	""
"0000029701"	"00029658"	"1"	"00006"	"00006"	"2015-01-25 16:18:35"	""	""	"SEQ"	"DNA"	""	""
"0000029702"	"00029659"	"1"	"00006"	"00006"	"2015-01-25 16:31:17"	""	""	"arrayCGH"	"DNA"	""	""
"0000029704"	"00029661"	"1"	"00006"	"00006"	"2015-01-25 17:20:03"	""	""	"DGGE;SEQ"	"DNA;RNA"	""	""
"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"	""	""
"0000029716"	"00029674"	"1"	"00006"	"00006"	"2015-01-26 17:05:40"	""	""	"SEQ"	"DNA"	""	""
"0000029717"	"00029675"	"1"	"00006"	"00006"	"2015-01-26 22:06:06"	""	""	"SEQ"	"DNA"	""	""
"0000029719"	"00029677"	"1"	"00006"	"00006"	"2015-01-26 22:27:19"	""	""	"FISH;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"	""	""
"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"	""	""
"0000122839"	"00122371"	"1"	"00006"	"00006"	"2002-07-01 12:00:00"	"00006"	"2017-11-30 16:09:56"	"PCR;RT-PCR;SEQ"	"DNA"	""	""
"0000168985"	"00168113"	"1"	"02537"	"02537"	"2018-07-20 09:07:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000184094"	"00183136"	"1"	"00006"	"00006"	"2018-10-14 12:07:53"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES-X chromosome"
"0000270653"	"00269499"	"1"	"00006"	"00006"	"2019-11-28 19:57:10"	"00006"	"2019-11-29 11:01:56"	"arrayCGH;FISH"	"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"
"0000297156"	"00295985"	"1"	"01164"	"01164"	"2020-04-01 11:00:28"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000297885"	"00296775"	"1"	"00006"	"00006"	"2020-04-13 12:27:32"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"230-gene ID panel"
"0000308883"	"00307743"	"1"	"00006"	"00006"	"2020-08-18 13:19:45"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"565 gene panel"
"0000308884"	"00307744"	"1"	"00006"	"00006"	"2020-08-18 13:19:45"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"565 gene panel"
"0000308885"	"00307745"	"1"	"00006"	"00006"	"2020-08-18 13:19:45"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"565 gene panel"
"0000375958"	"00374764"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000430180"	"00428767"	"1"	"00006"	"00006"	"2023-01-09 21:28:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000450376"	"00448785"	"1"	"00006"	"00006"	"2024-04-17 09:31:33"	""	""	"arraySNP"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 115
"{{screeningid}}"	"{{geneid}}"
"0000000019"	"AFF2"
"0000000019"	"ALG12"
"0000000019"	"ALG6"
"0000000019"	"B3GLCT"
"0000000019"	"B4GALT1"
"0000000019"	"BBS12"
"0000000019"	"CDK5RAP2"
"0000000019"	"CENPJ"
"0000000019"	"CRBN"
"0000000019"	"DHCR7"
"0000000019"	"EP300"
"0000000019"	"IL1RAPL1"
"0000000019"	"KDM5C"
"0000000019"	"KRAS"
"0000000019"	"MCPH1"
"0000000019"	"MED12"
"0000000019"	"NSD1"
"0000000019"	"NUFIP1"
"0000000019"	"POMT1"
"0000000019"	"RAB3GAP2"
"0000000019"	"RAF1"
"0000000019"	"SATB2"
"0000000019"	"SCN8A"
"0000000019"	"SIL1"
"0000000019"	"TSC1"
"0000017822"	"IL1RAPL1"
"0000017827"	"IL1RAPL1"
"0000017832"	"IL1RAPL1"
"0000017877"	"IL1RAPL1"
"0000017878"	"IL1RAPL1"
"0000017880"	"IL1RAPL1"
"0000017881"	"IL1RAPL1"
"0000029695"	"IL1RAPL1"
"0000029696"	"IL1RAPL1"
"0000029697"	"IL1RAPL1"
"0000029698"	"IL1RAPL1"
"0000029699"	"IL1RAPL1"
"0000029700"	"IL1RAPL1"
"0000029701"	"IL1RAPL1"
"0000029702"	"IL1RAPL1"
"0000029704"	"IL1RAPL1"
"0000029705"	"IL1RAPL1"
"0000029705"	"NR0B1"
"0000029706"	"GK"
"0000029706"	"IL1RAPL1"
"0000029706"	"NR0B1"
"0000029707"	"IL1RAPL1"
"0000029707"	"NR0B1"
"0000029708"	"IL1RAPL1"
"0000029708"	"NR0B1"
"0000029716"	"IL1RAPL1"
"0000029717"	"IL1RAPL1"
"0000029719"	"IL1RAPL1"
"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"
"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"
"0000122839"	"DMD"
"0000122839"	"IL1RAPL1"
"0000168985"	"IL1RAPL1"
"0000184094"	"IL1RAPL1"
"0000270653"	"IL1RAPL1"
"0000290208"	"DMD"
"0000290208"	"GK"
"0000290208"	"IL1RAPL1"
"0000290208"	"NR0B1"
"0000290209"	"DMD"
"0000290607"	"DMD"
"0000290608"	"DMD"
"0000297885"	"IL1RAPL1"
"0000308883"	"IL1RAPL1"
"0000308884"	"IL1RAPL1"
"0000308885"	"IL1RAPL1"
"0000375958"	"IL1RAPL1"


## 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 = 101
"{{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}}"
"0000001309"	"3"	"30"	"X"	"28807769"	"28807769"	"subst"	"0"	"00002"	"IL1RAPL1_000011"	"g.28807769T>C"	""	"{PMID:Almomani 2011:21102627}"	""	""	""	"Germline"	"?"	"rs12690144"	"0"	""	""	"g.28789652T>C"	""	"likely benign"	""
"0000001310"	"3"	"30"	"X"	"28807748"	"28807748"	"subst"	"0"	"00002"	"IL1RAPL1_000012"	"g.28807748A>G"	""	"{PMID:Almomani 2011:21102627}"	""	""	""	"Germline"	"?"	"rs6526807"	"0"	""	""	"g.28789631A>G"	""	"likely benign"	""
"0000001844"	"0"	"30"	"X"	"28605887"	"28605887"	"dup"	"0"	"00037"	"IL1RAPL1_000005"	"g.28605887dup"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.28587770dup"	""	"likely benign"	""
"0000001845"	"0"	"30"	"X"	"28606363"	"28606364"	"del"	"0"	"00037"	"IL1RAPL1_000004"	"g.28606363_28606364del"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.28588246_28588247del"	""	"likely benign"	""
"0000006518"	"20"	"30"	"X"	"29417510"	"29417510"	"subst"	"0"	"00037"	"IL1RAPL1_000006"	"g.29417510C>A"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.29399393C>A"	""	"likely benign"	""
"0000008576"	"0"	"30"	"X"	"28606363"	"28606364"	"del"	"0"	"00037"	"IL1RAPL1_000004"	"g.28606363_28606364del"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.28588246_28588247del"	""	"likely benign"	""
"0000014480"	"20"	"30"	"X"	"29417510"	"29417510"	"subst"	"0"	"00037"	"IL1RAPL1_000006"	"g.29417510C>A"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.29399393C>A"	""	"likely benign"	""
"0000038021"	"21"	"90"	"X"	"29684074"	"29691813"	"del"	"0"	"00740"	"IL1RAPL1_000009"	"g.29684074_29691813del"	""	"{PMID:Ramos-Brossier 2015:25305082}, {DOI:Ramos-Brossier 2015:10.1093/hmg/ddu523}"	""	""	"in female patient random X-inactivation (variant APOO gene)"	"Germline"	"yes"	""	"0"	""	""	"g.29665957_29673696del"	""	"pathogenic"	""
"0000038025"	"21"	"90"	"X"	"29517322"	"29746541"	"del"	"0"	"00740"	"IL1RAPL1_000008"	"g.29517322_29746541del"	""	"{PMID:Ramos-Brossier 2015:25305082}, {DOI:Ramos-Brossier 2015:10.1093/hmg/ddu523}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.29499205_29728424del"	""	"pathogenic"	""
"0000038035"	"21"	"90"	"X"	"29301063"	"29301063"	"subst"	"0"	"00740"	"IL1RAPL1_000003"	"g.29301063T>C"	"1/208 families"	"{PMID:Tarpey 2009:19377476}; {PMID:Ramos-Brossier 2015:25305082}, {DOI:Ramos-Brossier 2015:10.1093/hmg/ddu523}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.29282946T>C"	""	"pathogenic"	""
"0000038094"	"20"	"30"	"X"	"29973451"	"29973451"	"subst"	"0.000908805"	"00006"	"IL1RAPL1_000001"	"g.29973451G>T"	""	"{PMID:Tarpey 2009:19377476}"	""	"T535T"	"found once, nonrecurrent change"	"Germline"	"yes"	""	"0"	""	""	"g.29955334G>T"	""	"likely benign"	""
"0000038095"	"20"	"30"	"X"	"28807496"	"28807496"	"subst"	"0.00169027"	"00006"	"IL1RAPL1_000002"	"g.28807496C>T"	""	"{PMID:Tarpey 2009:19377476}"	""	"Y12Y"	"found once, nonrecurrent change"	"Germline"	"yes"	""	"0"	""	""	"g.28789379C>T"	""	"likely benign"	""
"0000038097"	"0"	"90"	"X"	"29973223"	"29973223"	"subst"	"0"	"00006"	"IL1RAPL1_000007"	"g.29973223C>A"	""	"{PMID:Carrie 1999:10471494}, {OMIM300206:0001}"	""	""	"RNA expression lymphoblastoid cell line strongly reduced"	"Unknown"	"yes"	""	"0"	""	""	"g.29955106C>A"	""	"pathogenic"	""
"0000038098"	"21"	"90"	"X"	"28807540"	"29417426"	"del"	"0"	"00006"	"IL1RAPL1_000010"	"g.(28807540_29417426)del"	""	"{PMID:Carrie 1999:10471494}"	""	"del ex3-5"	"deletion incl. DXS1218\r\nVariant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message."	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000053081"	"20"	"30"	"X"	"29973773"	"29973773"	"subst"	"1.12905E-5"	"00006"	"IL1RAPL1_000013"	"g.29973773A>G"	""	"{PMID:Ramos-Brossier 2015:25305082}, {DOI:Ramos-Brossier 2015:10.1093/hmg/ddu523}"	""	""	"variant not in affected brother"	"Unknown"	"no"	""	"0"	""	""	"g.29955656A>G"	""	"likely benign"	""
"0000053082"	"0"	"10"	"X"	"29973773"	"29973773"	"subst"	"1.12905E-5"	"00006"	"IL1RAPL1_000013"	"g.29973773A>G"	""	"{PMID:Ramos-Brossier 2015:25305082}, {DOI:Ramos-Brossier 2015:10.1093/hmg/ddu523}"	""	""	"expression cloning functional assays give normal results"	"In vitro (cloned)"	"-"	""	"0"	""	""	"g.29955656A>G"	""	"NA"	""
"0000053083"	"0"	"90"	"X"	"29686547"	"29686621"	"del"	"0"	"00006"	"IL1RAPL1_000014"	"g.29686547_29686621del"	""	"{PMID:Ramos-Brossier 2015:25305082}, {DOI:Ramos-Brossier 2015:10.1093/hmg/ddu523}"	""	""	"expression cloning shows IL1RAPL1 instability and mislocalization within dendrites; failure to induce pre- and post-synaptic differentiation; HEK293 cells reduced interaction IL1RAPL1/PTPdelta; no effect on cellular signaling (still activating JNK pathway)"	"In vitro (cloned)"	"no"	""	"0"	""	""	"g.29668430_29668504del"	""	"NA"	""
"0000053084"	"0"	"90"	"X"	"29301063"	"29301063"	"subst"	"0"	"00006"	"IL1RAPL1_000003"	"g.29301063T>C"	""	"{PMID:Ramos-Brossier 2015:25305082}, {DOI:Ramos-Brossier 2015:10.1093/hmg/ddu523}"	""	""	"expression cloning shows failure to induce pre- and post-synaptic differentiation; HEK293 cells reduced interaction IL1RAPL1/PTPdelta; no effect on cellular signaling (still activating JNK pathway)"	"In vitro (cloned)"	"-"	""	"0"	""	""	"g.29282946T>C"	""	"NA"	""
"0000053085"	"1"	"90"	"X"	"29959810"	"29959816"	"del"	"0"	"00006"	"IL1RAPL1_000015"	"g.29959810_29959816del"	"1/142 cases"	"{PMID:Piton 2008:18801879}, {DOI:Piton 2008:10.1093/hmg/ddn300}"	""	"1730delTACTCTT"	""	"De novo"	"yes"	""	"0"	""	""	"g.29941693_29941699del"	""	"pathogenic"	""
"0000053086"	"21"	"30"	"X"	"29959846"	"29959846"	"subst"	"0.00041971"	"00006"	"IL1RAPL1_000016"	"g.29959846A>G"	"1/142 cases"	"{PMID:Piton 2008:18801879}, {DOI:Piton 2008:10.1093/hmg/ddn300}"	""	"K379R"	"not in 190 controls"	"Germline"	""	""	"0"	""	""	"g.29941729A>G"	""	"likely benign"	""
"0000053087"	"21"	"30"	"X"	"29973773"	"29973773"	"subst"	"1.12905E-5"	"00006"	"IL1RAPL1_000013"	"g.29973773A>G"	"1/190 controls"	"{PMID:Piton 2008:18801879}, {DOI:Piton 2008:10.1093/hmg/ddn300}"	""	"I643V"	""	"Germline"	""	""	"0"	""	""	"g.29955656A>G"	""	"likely benign"	""
"0000053088"	"21"	"30"	"X"	"29973700"	"29973700"	"subst"	"0"	"00006"	"IL1RAPL1_000017"	"g.29973700A>Y"	"1/142 cases"	"{PMID:Piton 2008:18801879}, {DOI:Piton 2008:10.1093/hmg/ddn300}"	""	"Q618H"	""	"Germline"	""	""	"0"	""	""	"g.29955583A>Y"	""	"likely benign"	""
"0000053089"	"21"	"30"	"X"	"29973700"	"29973700"	"subst"	"0"	"00006"	"IL1RAPL1_000017"	"g.29973700A>Y"	"1/190 controls"	"{PMID:Piton 2008:18801879}, {DOI:Piton 2008:10.1093/hmg/ddn300}"	""	"Q618H"	""	"Germline"	""	""	"0"	""	""	"g.29955583A>Y"	""	"likely benign"	""
"0000053090"	"21"	"30"	"X"	"29973755"	"29973755"	"subst"	"0"	"00006"	"IL1RAPL1_000018"	"g.29973755A>T"	"1/190 controls"	"{PMID:Piton 2008:18801879}, {DOI:Piton 2008:10.1093/hmg/ddn300}"	""	"T637S"	""	"Germline"	""	""	"0"	""	""	"g.29955638A>T"	""	"likely benign"	""
"0000053091"	"0"	"90"	"X"	"29959810"	"29959816"	"del"	"0"	"00006"	"IL1RAPL1_000015"	"g.29959810_29959816del"	""	"{PMID:Piton 2008:18801879}, {DOI:Piton 2008:10.1093/hmg/ddn300}"	""	""	"cDNA expression cloning HEK293 shows mislocalized protein (cytoplasm in cell surface), no rescue increased number/length neurite outgrowths"	"In vitro (cloned)"	""	""	"0"	""	""	"g.29941693_29941699del"	""	"NA"	""
"0000053092"	"21"	"90"	"X"	"29225499"	"29935793"	""	"0"	"00006"	"IL1RAPL1_000019"	"g.(29194665_29225499)_(29935793_29936393)del"	""	"{PMID:Piton 2008:18801879}, {DOI:Piton 2008:10.1093/hmg/ddn300}"	""	"hg18 g.(29104586_29135420)_(29838753_29856482)del"	"730 kb deletion"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000053094"	"0"	"90"	"X"	"26471345"	"30082645"	""	"0"	"00006"	"IL1RAPL1_000020"	"g.(25007364_26471345)_(30082645_30128228)del"	""	"{PMID:Carrie 1999:10471494}"	""	""	"deletion extends from (DXS6764_DXS1202)_(DXS1088_DXS704)"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000053095"	"0"	"90"	"X"	"28315338"	"30327481"	""	"0"	"00006"	"IL1RAPL1_000021"	"g.(28315338_28315338)_(30327481_30671654)del"	""	"{PMID:Carrie 1999:10471494}"	""	""	"deletion extends from (DXS1202_DXS28)_(AHC_GK)"	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000053099"	"0"	"90"	"X"	"28771534"	"30746860"	""	"0"	"00006"	"IL1RAPL1_000022"	"g.(28606165_28771534)_(30746860_31140035)del"	""	"{PMID:Carrie 1999:10471494}"	""	""	"deletion (1i_DXS1147)_(GK_DMD)del"	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000053101"	"0"	"90"	"X"	"29155309"	"30327481"	""	"0"	"00006"	"IL1RAPL1_000023"	"g.(28807543_29155309)_(30327481_30671654)del"	""	"{PMID:Carrie 1999:10471494}"	""	""	"deletion extends from (2i_DXS1218)_(AHC_GK)"	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000053103"	"0"	"90"	"X"	"29935580"	"30327481"	""	"0"	"00006"	"IL1RAPL1_000024"	"g.(29686622_29935580)_(30327481_30671654)del"	""	""	""	""	"deletion extends from (6i_DXS7187)_(AHC_GK)"	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000053111"	"21"	"90"	"X"	"29973306"	"29973306"	"subst"	"0"	"00006"	"IL1RAPL1_000025"	"g.29973306G>A"	""	"{PMID:Tabolacci 2006:16470793}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.29955189G>A"	""	"pathogenic"	""
"0000053112"	"20"	"90"	"X"	"29973356"	"29973356"	"subst"	"0"	"00006"	"IL1RAPL1_000026"	"g.29973356G>T"	""	"{PMID:de Brouwer 2007:17221867}"	""	"1510C>T"	""	"Germline"	"yes"	""	"0"	""	""	"g.29955239G>T"	""	"pathogenic"	""
"0000053114"	"20"	"90"	"X"	"28807542"	"29686622"	""	"0"	"00006"	"IL1RAPL1_000027"	"g.(28807542_28807541)_(29686622_29935580)del"	""	"{PMID:Nawara 2008:19012350}"	""	"del ex2-5"	"mapped by linkage"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000061564"	"0"	"99"	"X"	"28600000"	"33229674"	""	"0"	"00006"	"DMD_040079"	"g.(25040000_28600000)_(33229673_?)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"	"28600000"	"33229674"	""	"0"	"00006"	"DMD_040079"	"g.(25040000_28600000)_(33229673_?)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"	"29935580"	"33229674"	""	"0"	"00006"	"DMD_040080"	"g.(28606165_29935580)_(33229673_?)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)"	""
"0000061571"	"0"	"99"	"X"	"25020000"	"32235181"	""	"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"	"31893491"	""	"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"	"28807460"	"31645980"	"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"	"28600000"	"31241239"	""	"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"	"28600000"	"31241239"	""	"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"	"28500000"	"33357726"	""	"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"	"28500000"	"33357726"	""	"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)"	""
"0000211691"	"1"	"90"	"X"	"29949219"	"31144301"	"del"	"0"	"00006"	"DMD_000533"	"g.29949219_31144301del"	""	"{PMID:Jin 2000:10757639}, {PMID:Greener 2002:12107815}, {GenBank:AF181286.1}"	""	""	"breakpoint in intron 8 IL1RAPL1 gene (antisense strand), RNA contains new 3\' sequence replacing ex79"	"Germline"	"yes"	""	"0"	""	""	"g.29931102_31126184del"	""	"pathogenic (recessive)"	""
"0000256196"	"0"	"50"	"X"	"29301205"	"29301205"	"subst"	"1.67925E-5"	"01943"	"IL1RAPL1_000030"	"g.29301205A>G"	""	""	""	"IL1RAPL1(NM_014271.3):c.233A>G (p.K78R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.29283088A>G"	""	"VUS"	""
"0000281517"	"0"	"10"	"X"	"28807442"	"28807442"	"subst"	"0.581796"	"02325"	"IL1RAPL1_000028"	"g.28807442G>A"	""	""	""	"IL1RAPL1(NM_014271.4):c.-19G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28789325G>A"	""	"benign"	""
"0000285257"	"0"	"30"	"X"	"29973740"	"29973740"	"subst"	"5.76997E-6"	"02326"	"IL1RAPL1_000035"	"g.29973740G>A"	""	""	""	"IL1RAPL1(NM_014271.3):c.1894G>A (p.(Val632Ile)), IL1RAPL1(NM_014271.4):c.1894G>A (p.V632I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.29955623G>A"	""	"likely benign"	""
"0000289587"	"0"	"50"	"X"	"29938193"	"29938193"	"subst"	"5.60265E-6"	"01943"	"IL1RAPL1_000034"	"g.29938193G>T"	""	""	""	"IL1RAPL1(NM_014271.3):c.1039G>T (p.V347F, p.(Val347Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.29920076G>T"	""	"VUS"	""
"0000289588"	"0"	"30"	"X"	"29301203"	"29301203"	"subst"	"3.91843E-5"	"01943"	"IL1RAPL1_000029"	"g.29301203C>T"	""	""	""	"IL1RAPL1(NM_014271.3):c.231C>T (p.Y77=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.29283086C>T"	""	"likely benign"	""
"0000289589"	"0"	"30"	"X"	"29935586"	"29935586"	"subst"	"0.000185256"	"01943"	"IL1RAPL1_000032"	"g.29935586T>G"	""	""	""	"IL1RAPL1(NM_014271.3):c.784T>G (p.S262A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.29917469T>G"	""	"likely benign"	""
"0000289590"	"0"	"50"	"X"	"29935595"	"29935595"	"subst"	"0"	"01943"	"IL1RAPL1_000033"	"g.29935595C>G"	""	""	""	"IL1RAPL1(NM_014271.3):c.793C>G (p.L265V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.29917478C>G"	""	"VUS"	""
"0000333556"	"0"	"50"	"X"	"29973764"	"29973764"	"subst"	"1.69882E-5"	"01804"	"IL1RAPL1_000036"	"g.29973764C>G"	""	""	""	"IL1RAPL1(NM_014271.3):c.1918C>G (p.L640V, p.(Leu640Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.29955647C>G"	""	"VUS"	""
"0000333557"	"0"	"50"	"X"	"29973771"	"29973771"	"subst"	"5.64825E-6"	"01804"	"IL1RAPL1_000037"	"g.29973771C>G"	""	""	""	"IL1RAPL1(NM_014271.3):c.1925C>G (p.(Ser642Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.29955654C>G"	""	"VUS"	""
"0000337655"	"0"	"30"	"X"	"28807442"	"28807442"	"subst"	"0.581796"	"02327"	"IL1RAPL1_000028"	"g.28807442G>A"	""	""	""	"IL1RAPL1(NM_014271.4):c.-19G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28789325G>A"	""	"likely benign"	""
"0000341128"	"0"	"30"	"X"	"29301321"	"29301321"	"subst"	"0"	"02327"	"IL1RAPL1_000038"	"g.29301321G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.29283204G>A"	""	"likely benign"	""
"0000342686"	"0"	"50"	"X"	"29938182"	"29938182"	"subst"	"2.23979E-5"	"02327"	"IL1RAPL1_000040"	"g.29938182G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.29920065G>A"	""	"VUS"	""
"0000342707"	"0"	"90"	"X"	"29938208"	"29938208"	"subst"	"0"	"02327"	"IL1RAPL1_000041"	"g.29938208C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.29920091C>T"	""	"pathogenic"	""
"0000345247"	"0"	"50"	"X"	"29417373"	"29417373"	"subst"	"0.000100959"	"02327"	"IL1RAPL1_000039"	"g.29417373A>C"	""	""	""	"IL1RAPL1(NM_014271.3):c.651A>C (p.E217D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.29399256A>C"	""	"VUS"	""
"0000350616"	"0"	"30"	"X"	"29973740"	"29973740"	"subst"	"5.76997E-6"	"02327"	"IL1RAPL1_000035"	"g.29973740G>A"	""	""	""	"IL1RAPL1(NM_014271.3):c.1894G>A (p.(Val632Ile)), IL1RAPL1(NM_014271.4):c.1894G>A (p.V632I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.29955623G>A"	""	"likely benign"	""
"0000379123"	"0"	"90"	"X"	"29973335"	"29973335"	"subst"	"0"	"02537"	"IL1RAPL1_000042"	"g.29973335C>T"	""	"{PMID:Du 2018:30555518}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.29955218C>T"	""	"pathogenic"	""
"0000408063"	"21"	"90"	"X"	"28960479"	"29301379"	"dup"	"0"	"00006"	"IL1RAPL1_000043"	"g.28960479_29301379dup"	""	"{PMID:Hu 2016:25644381}"	""	"IL1RAPL1"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000575491"	"0"	"30"	"X"	"29414532"	"29414532"	"subst"	"0"	"01943"	"IL1RAPL1_000045"	"g.29414532A>G"	""	""	""	"IL1RAPL1(NM_014271.3):c.520A>G (p.T174A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.29396415A>G"	""	"likely benign"	""
"0000575494"	"0"	"50"	"X"	"29973267"	"29973267"	"subst"	"0"	"01943"	"IL1RAPL1_000046"	"g.29973267T>G"	""	""	""	"IL1RAPL1(NM_014271.3):c.1421T>G (p.I474S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.29955150T>G"	""	"VUS"	""
"0000575495"	"0"	"50"	"X"	"29973764"	"29973764"	"subst"	"1.69882E-5"	"01943"	"IL1RAPL1_000036"	"g.29973764C>G"	""	""	""	"IL1RAPL1(NM_014271.3):c.1918C>G (p.L640V, p.(Leu640Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.29955647C>G"	""	"VUS"	""
"0000575496"	"0"	"30"	"X"	"29973913"	"29973913"	"subst"	"0.0014484"	"01943"	"IL1RAPL1_000047"	"g.29973913C>G"	""	""	""	"IL1RAPL1(NM_014271.3):c.2067C>G (p.T689=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.29955796C>G"	""	"likely benign"	""
"0000604465"	"21"	"90"	"X"	"28683919"	"29753365"	"del"	"0"	"00006"	"IL1RAPL1_000048"	"g.(28606164_28683919)_(29753365_29935580)del"	""	"{PMID:Mikhail 2011:22031302}, {DOI:Mikhail 2011:10.1002/ajmg.a.34177}"	""	"hg19 28,683,919-29,753,365del"	"hg19 28,683,919-29,753,365del"	"Germline"	""	""	"0"	""	""	"g.(28588047_28665802)_(29735248_29917463)del"	""	"pathogenic (recessive)"	""
"0000619447"	"0"	"50"	"X"	"28807521"	"28807521"	"subst"	"0"	"01943"	"IL1RAPL1_000049"	"g.28807521G>T"	""	""	""	"IL1RAPL1(NM_014271.3):c.61G>T (p.V21F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28789404G>T"	""	"VUS"	""
"0000619449"	"0"	"30"	"X"	"29973895"	"29973895"	"subst"	"0.000535957"	"01943"	"IL1RAPL1_000051"	"g.29973895G>A"	""	""	""	"IL1RAPL1(NM_014271.3):c.2049G>A (p.P683=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.29955778G>A"	""	"likely benign"	""
"0000624576"	"0"	"30"	"X"	"28807496"	"28807496"	"subst"	"0.00169027"	"01943"	"IL1RAPL1_000002"	"g.28807496C>T"	""	""	""	"IL1RAPL1(NM_014271.3):c.36C>T (p.Y12=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28789379C>T"	""	"likely benign"	""
"0000624577"	"0"	"50"	"X"	"29417363"	"29417363"	"subst"	"2.24293E-5"	"01943"	"IL1RAPL1_000050"	"g.29417363A>T"	""	""	""	"IL1RAPL1(NM_014271.3):c.641A>T (p.Y214F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.29399246A>T"	""	"VUS"	""
"0000646860"	"20"	"90"	"X"	"29935580"	"31366752"	"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"	"28500000"	"31986632"	"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"	"25878399"	"31987991"	"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"	"29008175"	"31496701"	"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)"	""
"0000659257"	"0"	"50"	"X"	"29301135"	"29301135"	"subst"	"0"	"01943"	"IL1RAPL1_000052"	"g.29301135C>T"	""	""	""	"IL1RAPL1(NM_014271.3):c.163C>T (p.L55F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.29283018C>T"	""	"VUS"	""
"0000659781"	"0"	"70"	"X"	"29973335"	"29973335"	"subst"	"0"	"01164"	"IL1RAPL1_000042"	"g.29973335C>T"	""	""	""	""	"ACMG grading: PVS1,PM2"	"Germline"	""	""	"0"	""	""	"g.29955218C>T"	""	"likely pathogenic"	"ACMG"
"0000660585"	"21"	"90"	"X"	"29935696"	"29935705"	"del"	"0"	"00006"	"IL1RAPL1_000053"	"g.29935696_29935705del"	""	"{PMID:Redin 2014:25167861}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.29917579_29917588del"	""	"pathogenic (recessive)"	""
"0000682372"	"0"	"30"	"X"	"29935585"	"29935585"	"subst"	"0"	"01943"	"IL1RAPL1_000054"	"g.29935585C>G"	""	""	""	"IL1RAPL1(NM_014271.3):c.783C>G (p.D261E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682373"	"0"	"50"	"X"	"29973546"	"29973546"	"subst"	"0"	"02327"	"IL1RAPL1_000055"	"g.29973546T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000683317"	"0"	"70"	"X"	"29935691"	"29935691"	"subst"	"0"	"00006"	"IL1RAPL1_000058"	"g.29935691C>T"	""	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.29917574C>T"	""	"likely pathogenic"	""
"0000683318"	"0"	"70"	"X"	"29417328"	"29417328"	"dup"	"0"	"00006"	"IL1RAPL1_000057"	"g.29417328dup"	""	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.29399211dup"	""	"likely pathogenic"	""
"0000683319"	"0"	"70"	"X"	"29301120"	"29301120"	"subst"	"0"	"00006"	"IL1RAPL1_000056"	"g.29301120C>T"	""	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.29283003C>T"	""	"likely pathogenic"	""
"0000693545"	"0"	"30"	"X"	"29938178"	"29938178"	"subst"	"5.59826E-6"	"02327"	"IL1RAPL1_000059"	"g.29938178C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000693546"	"0"	"30"	"X"	"29973451"	"29973451"	"subst"	"0.000908805"	"01943"	"IL1RAPL1_000001"	"g.29973451G>T"	""	""	""	"IL1RAPL1(NM_014271.3):c.1605G>T (p.T535=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000728810"	"0"	"50"	"X"	"29973289"	"29973289"	"subst"	"0"	"01943"	"IL1RAPL1_000060"	"g.29973289C>A"	""	""	""	"IL1RAPL1(NM_014271.3):c.1443C>A (p.Y481*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000787309"	"0"	"50"	"X"	"29301166"	"29301166"	"subst"	"0"	"00006"	"IL1RAPL1_000061"	"g.29301166C>A"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.29283049C>A"	""	"VUS"	""
"0000810275"	"0"	"50"	"X"	"29301118"	"29301118"	"subst"	"0"	"02325"	"IL1RAPL1_000062"	"g.29301118T>C"	""	""	""	"IL1RAPL1(NM_014271.4):c.146T>C (p.V49A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000810276"	"0"	"50"	"X"	"29417373"	"29417373"	"subst"	"0.000100959"	"01943"	"IL1RAPL1_000039"	"g.29417373A>C"	""	""	""	"IL1RAPL1(NM_014271.3):c.651A>C (p.E217D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000810278"	"0"	"50"	"X"	"29973740"	"29973740"	"subst"	"5.76997E-6"	"02325"	"IL1RAPL1_000035"	"g.29973740G>A"	""	""	""	"IL1RAPL1(NM_014271.3):c.1894G>A (p.(Val632Ile)), IL1RAPL1(NM_014271.4):c.1894G>A (p.V632I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000856548"	"0"	"50"	"X"	"29973756"	"29973756"	"subst"	"4.5476E-5"	"01943"	"IL1RAPL1_000065"	"g.29973756C>G"	""	""	""	"IL1RAPL1(NM_014271.3):c.1910C>G (p.T637S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000867304"	"0"	"30"	"X"	"28807472"	"28807472"	"subst"	"0.00147864"	"01943"	"IL1RAPL1_000063"	"g.28807472G>A"	""	""	""	"IL1RAPL1(NM_014271.3):c.12G>A (p.P4=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000867307"	"0"	"50"	"X"	"29973568"	"29973568"	"subst"	"0"	"02327"	"IL1RAPL1_000064"	"g.29973568T>A"	""	""	""	"(p.Asp574Glu)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000896079"	"0"	"50"	"X"	"29938187"	"29938187"	"subst"	"3.92141E-5"	"02325"	"IL1RAPL1_000066"	"g.29938187G>A"	""	""	""	"IL1RAPL1(NM_014271.4):c.1033G>A (p.A345T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000909964"	"0"	"50"	"X"	"29938193"	"29938193"	"subst"	"5.04238E-5"	"00006"	"IL1RAPL1_000067"	"g.29938193G>A"	""	"{PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}"	""	""	"ACMG BS2, BP4"	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"likely benign"	"ACMG"
"0000927324"	"0"	"50"	"X"	"28807519"	"28807519"	"subst"	"0.000106341"	"02325"	"IL1RAPL1_000068"	"g.28807519A>G"	""	""	""	"IL1RAPL1(NM_014271.4):c.59A>G (p.K20R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000972351"	"21"	"90"	"X"	"29296579"	"33551038"	"del"	"0"	"00006"	"DMD_000533"	"g.(?_29296579)_(33551038_?)del"	""	"{PMID:Fu 2024:38419979}"	""	"del 29296579–33551038 (build not mentioned)"	"4.2 Mb deletion of Xp21.3p21.1 incl. GK, DMD, and NR0B1 genes, and multiple exons of IL1RAPL1"	"Germline"	""	""	"0"	""	""	"g.(?_29278462)_(33532921_?)del"	""	"pathogenic"	""
"0001006680"	"0"	"50"	"X"	"29301108"	"29301108"	"subst"	"5.60362E-6"	"01804"	"IL1RAPL1_000069"	"g.29301108G>A"	""	""	""	"IL1RAPL1(NM_014271.3):c.136G>A (p.(Gly46Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001006681"	"0"	"50"	"X"	"29938193"	"29938193"	"subst"	"5.60265E-6"	"01804"	"IL1RAPL1_000034"	"g.29938193G>T"	""	""	""	"IL1RAPL1(NM_014271.3):c.1039G>T (p.V347F, p.(Val347Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001006682"	"0"	"30"	"X"	"29973740"	"29973740"	"subst"	"5.76997E-6"	"01804"	"IL1RAPL1_000035"	"g.29973740G>A"	""	""	""	"IL1RAPL1(NM_014271.3):c.1894G>A (p.(Val632Ile)), IL1RAPL1(NM_014271.4):c.1894G>A (p.V632I)"	"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 IL1RAPL1
## Count = 101
"{{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}}"
"0000001309"	"00000075"	"30"	"82"	"227"	"82"	"227"	"c.82+227T>C"	"r.(=)"	"p.(=)"	"2i"
"0000001310"	"00000075"	"30"	"82"	"206"	"82"	"206"	"c.82+206A>G"	"r.(=)"	"p.(=)"	"2i"
"0000001844"	"00000075"	"30"	"-302"	"0"	"-302"	"0"	"c.-302dup"	"r.(?)"	"p.(=)"	"1"
"0000001845"	"00000075"	"30"	"-25"	"199"	"-25"	"200"	"c.-25+199_-25+200del"	"r.(=)"	"p.(=)"	"1i"
"0000006518"	"00000075"	"30"	"703"	"85"	"703"	"85"	"c.703+85C>A"	"r.(=)"	"p.(=)"	"5i"
"0000008576"	"00000075"	"30"	"-25"	"199"	"-25"	"200"	"c.-25+199_-25+200del"	"r.(=)"	"p.(=)"	"1i"
"0000014480"	"00000075"	"30"	"703"	"85"	"703"	"85"	"c.703+85C>A"	"r.(=)"	"p.(=)"	"5i"
"0000038021"	"00000075"	"90"	"704"	"-2473"	"778"	"5192"	"c.704-2473_778+5192del"	"r.704_778del"	"p.Ala235_Leu259del"	"5i_6i"
"0000038025"	"00000075"	"90"	"703"	"99897"	"778"	"59920"	"c.703+99897_778+59920del"	"r.(del)"	"p.(Ala235_Leu259del)"	"5i_6i"
"0000038035"	"00000075"	"90"	"91"	"0"	"91"	"0"	"c.91T>C"	"r.(?)"	"p.(Cys31Arg)"	"3"
"0000038094"	"00000075"	"30"	"1605"	"0"	"1605"	"0"	"c.1605G>T"	"r.(?)"	"p.(=)"	"11"
"0000038095"	"00000075"	"30"	"36"	"0"	"36"	"0"	"c.36C>T"	"r.(?)"	"p.(=)"	"2"
"0000038097"	"00000075"	"90"	"1377"	"0"	"1377"	"0"	"c.1377C>A"	"r.1377c>a"	"p.Tyr459*"	"11"
"0000038098"	"00000075"	"90"	"82"	"-1"	"703"	"1"	"c.(81+1_82-1)_(703+1_704-1)del"	"r.del"	"p.?"	"2i_5i"
"0000053081"	"00000075"	"30"	"1927"	"0"	"1927"	"0"	"c.1927A>G"	"r.(?)"	"p.(Ile643Val)"	"11"
"0000053082"	"00000075"	"10"	"1927"	"0"	"1927"	"0"	"c.1927A>G"	"r.(?)"	"p.Ile643Val"	"11"
"0000053083"	"00000075"	"90"	"704"	"0"	"778"	"0"	"c.704_778del"	"r.704_778del"	"p.Ala235_Leu259del"	"6"
"0000053084"	"00000075"	"90"	"91"	"0"	"91"	"0"	"c.91T>C"	"r.(?)"	"p.Cys31Arg"	"3"
"0000053085"	"00000075"	"90"	"1100"	"0"	"1106"	"0"	"c.1100_1106del"	"r.(?)"	"p.(Ile367Serfs*7)"	"9"
"0000053086"	"00000075"	"30"	"1136"	"0"	"1136"	"0"	"c.1136A>G"	"r.(?)"	"p.(Lys379Arg)"	"9"
"0000053087"	"00000075"	"30"	"1927"	"0"	"1927"	"0"	"c.1927A>G"	"r.(?)"	"p.(Ile643Val)"	"11"
"0000053088"	"00000075"	"30"	"1854"	"0"	"1854"	"0"	"c.1854A>Y"	"r.(?)"	"p.(Gln618His)"	"11"
"0000053089"	"00000075"	"30"	"1854"	"0"	"1854"	"0"	"c.1854A>Y"	"r.(?)"	"p.(Gln618His)"	"11"
"0000053090"	"00000075"	"30"	"1909"	"0"	"1909"	"0"	"c.1909A>T"	"r.(?)"	"p.(Thr637Ser)"	"11"
"0000053091"	"00000075"	"90"	"1100"	"0"	"1106"	"0"	"c.1100_1106del"	"r.(?)"	"p.Ile367Serfs*7"	"9"
"0000053092"	"00000075"	"90"	"83"	"-75556"	"911"	"80"	"c.(83-106390_83-75556)_(911+80_911+680)del"	"r.83_911del"	"p.Ala28Glufs"	"2i_7i"
"0000053094"	"00000075"	"90"	"-1"	"0"	"2092"	"0"	"c.-508_*80{0}"	"r.0"	"p.0"	"_1_11_"
"0000053095"	"00000075"	"90"	"-1"	"0"	"2092"	"0"	"c.-508_*80{0}"	"r.0"	"p.0"	"_1_11"
"0000053099"	"00000075"	"90"	"-24"	"-1"	"2092"	"0"	"c.(-24-1_-24-35903)_*80{0}"	"r.0?"	"p.0"	"1i_11_"
"0000053101"	"00000075"	"90"	"0"	"0"	"0"	"0"	"c.(?_83-1)_*80{0}"	"r.?"	"p.?"	"2i_11_"
"0000053103"	"00000075"	"90"	"779"	"-1"	"2092"	"0"	"c.(778+1_779-1)_*80{0}"	"r.?"	"p.?"	"6i_11_"
"0000053111"	"00000075"	"90"	"1460"	"0"	"1460"	"0"	"c.1460G>A"	"r.(?)"	"p.(Trp487*)"	"11"
"0000053112"	"00000075"	"90"	"1510"	"0"	"1510"	"0"	"c.1510G>T"	"r.(?)"	"p.(Glu504*)"	"11"
"0000053114"	"00000075"	"90"	"82"	"-1"	"778"	"1"	"c.(81+1_82-1)_(778+1_779-1)del"	"r.del"	"p.?"	"2i_6i"
"0000061564"	"00000075"	"99"	"0"	"0"	"0"	"0"	"c.-508_*80{0}"	"r.0"	"p.0"	"_1_11_"
"0000061566"	"00000075"	"90"	"-1"	"0"	"2092"	"0"	"c.(?_-1)_(*1_?)del"	"r.0"	"p.0"	"_1_11_"
"0000061567"	"00000075"	"99"	"0"	"0"	"0"	"0"	"c.-508_*80{0}"	"r.0"	"p.0"	"_1_11"
"0000061568"	"00000075"	"00"	"779"	"-1"	"8388607"	"0"	"c.(-25+1_779-1)_?del"	"r.0"	"p.0"	"_1_6i"
"0000061571"	"00000075"	"99"	"0"	"0"	"0"	"0"	"c.-508_*80{0}"	"r.0"	"p.0"	"_1_11_"
"0000061572"	"00000075"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_11_"
"0000061573"	"00000075"	"99"	"-1"	"0"	"2092"	"0"	"c.-508_*80{0}"	"r.0"	"p.0"	"_1_11_"
"0000061574"	"00000075"	"99"	"0"	"0"	"0"	"0"	"c.-508_*80{0}"	"r.0"	"p.0"	"_1_11_"
"0000061575"	"00000075"	"99"	"0"	"0"	"0"	"0"	"c.-508_*80{0}"	"r.0"	"p.0"	"_1_11_"
"0000061578"	"00000075"	"99"	"0"	"0"	"0"	"0"	"c.-508_*80{0}"	"r.0"	"p.0"	"_1_11_"
"0000061579"	"00000075"	"99"	"0"	"0"	"0"	"0"	"c.-508_*80{0}"	"r.0"	"p.0"	"_1_11_"
"0000211691"	"00000075"	"90"	"0"	"0"	"0"	"0"	"c.1058-10549_*80{0}"	"r.?"	"p.?"	"8i_"
"0000256196"	"00000075"	"50"	"233"	"0"	"233"	"0"	"c.233A>G"	"r.(?)"	"p.(Lys78Arg)"	""
"0000281517"	"00000075"	"10"	"-19"	"0"	"-19"	"0"	"c.-19G>A"	"r.(?)"	"p.(=)"	""
"0000285257"	"00000075"	"30"	"1894"	"0"	"1894"	"0"	"c.1894G>A"	"r.(?)"	"p.(Val632Ile)"	""
"0000289587"	"00000075"	"50"	"1039"	"0"	"1039"	"0"	"c.1039G>T"	"r.(?)"	"p.(Val347Phe)"	""
"0000289588"	"00000075"	"30"	"231"	"0"	"231"	"0"	"c.231C>T"	"r.(?)"	"p.(Tyr77=)"	""
"0000289589"	"00000075"	"30"	"784"	"0"	"784"	"0"	"c.784T>G"	"r.(?)"	"p.(Ser262Ala)"	""
"0000289590"	"00000075"	"50"	"793"	"0"	"793"	"0"	"c.793C>G"	"r.(?)"	"p.(Leu265Val)"	""
"0000333556"	"00000075"	"50"	"1918"	"0"	"1918"	"0"	"c.1918C>G"	"r.(?)"	"p.(Leu640Val)"	""
"0000333557"	"00000075"	"50"	"1925"	"0"	"1925"	"0"	"c.1925C>G"	"r.(?)"	"p.(Ser642Cys)"	""
"0000337655"	"00000075"	"30"	"-19"	"0"	"-19"	"0"	"c.-19G>A"	"r.(?)"	"p.(=)"	""
"0000341128"	"00000075"	"30"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Ala117Thr)"	""
"0000342686"	"00000075"	"50"	"1028"	"0"	"1028"	"0"	"c.1028G>A"	"r.(?)"	"p.(Arg343Gln)"	""
"0000342707"	"00000075"	"90"	"1054"	"0"	"1054"	"0"	"c.1054C>T"	"r.(?)"	"p.(Arg352Ter)"	""
"0000345247"	"00000075"	"50"	"651"	"0"	"651"	"0"	"c.651A>C"	"r.(?)"	"p.(Glu217Asp)"	""
"0000350616"	"00000075"	"30"	"1894"	"0"	"1894"	"0"	"c.1894G>A"	"r.(?)"	"p.(Val632Ile)"	""
"0000379123"	"00000075"	"90"	"1489"	"0"	"1489"	"0"	"c.1489C>T"	"r.(1489c>u)"	"p.(Arg497*)"	""
"0000408063"	"00000075"	"00"	"82"	"152937"	"362"	"45"	"c.82+152937_362+45dup"	"r.?"	"p.?"	""
"0000575491"	"00000075"	"30"	"520"	"0"	"520"	"0"	"c.520A>G"	"r.(?)"	"p.(Thr174Ala)"	""
"0000575494"	"00000075"	"50"	"1421"	"0"	"1421"	"0"	"c.1421T>G"	"r.(?)"	"p.(Ile474Ser)"	""
"0000575495"	"00000075"	"50"	"1918"	"0"	"1918"	"0"	"c.1918C>G"	"r.(?)"	"p.(Leu640Val)"	""
"0000575496"	"00000075"	"30"	"2067"	"0"	"2067"	"0"	"c.2067C>G"	"r.(?)"	"p.(Thr689=)"	""
"0000604465"	"00000075"	"90"	"-25"	"77755"	"778"	"66744"	"c.(-26+1_-25+77755)_(778+66744_779-1)del"	"r.?"	"p.0?"	"1i_6i"
"0000619447"	"00000075"	"50"	"61"	"0"	"61"	"0"	"c.61G>T"	"r.(?)"	"p.(Val21Phe)"	""
"0000619449"	"00000075"	"30"	"2049"	"0"	"2049"	"0"	"c.2049G>A"	"r.(?)"	"p.(Pro683=)"	""
"0000624576"	"00000075"	"30"	"36"	"0"	"36"	"0"	"c.36C>T"	"r.(?)"	"p.(Tyr12=)"	""
"0000624577"	"00000075"	"50"	"641"	"0"	"641"	"0"	"c.641A>T"	"r.(?)"	"p.(Tyr214Phe)"	""
"0000646860"	"00000075"	"90"	"0"	"0"	"0"	"0"	"c.(778+1_779-1)_*80{0}"	"r.?"	"p.?"	"5i_11_"
"0000646861"	"00000075"	"90"	"0"	"0"	"0"	"0"	"c.-508_*80{0}"	"r.0"	"p.0"	"_1_11_"
"0000647294"	"00000075"	"90"	"0"	"0"	"0"	"0"	"c.-508_*80{0}"	"r.0"	"p.0"	"_1_11_"
"0000647295"	"00000075"	"90"	"0"	"0"	"0"	"0"	"c.(82+1_82+200633)_*80{0}"	"r.?"	"p.?"	""
"0000659257"	"00000075"	"50"	"163"	"0"	"163"	"0"	"c.163C>T"	"r.(?)"	"p.(Leu55Phe)"	""
"0000659781"	"00000075"	"70"	"1489"	"0"	"1489"	"0"	"c.1489C>T"	"r.(?)"	"p.(Arg497*)"	""
"0000660585"	"00000075"	"90"	"894"	"0"	"903"	"0"	"c.894_903del"	"r.(?)"	"p.(Trp299Thrfs*18)"	""
"0000682372"	"00000075"	"30"	"783"	"0"	"783"	"0"	"c.783C>G"	"r.(?)"	"p.(Asp261Glu)"	""
"0000682373"	"00000075"	"50"	"1700"	"0"	"1700"	"0"	"c.1700T>C"	"r.(?)"	"p.(Ile567Thr)"	""
"0000683317"	"00000075"	"70"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.(Arg297*)"	""
"0000683318"	"00000075"	"70"	"606"	"0"	"606"	"0"	"c.606dup"	"r.(?)"	"p.(Ile203Tyrfs*8)"	""
"0000683319"	"00000075"	"70"	"148"	"0"	"148"	"0"	"c.148C>T"	"r.(?)"	"p.(Arg50*)"	""
"0000693545"	"00000075"	"30"	"1024"	"0"	"1024"	"0"	"c.1024C>T"	"r.(?)"	"p.(Arg342Cys)"	""
"0000693546"	"00000075"	"30"	"1605"	"0"	"1605"	"0"	"c.1605G>T"	"r.(?)"	"p.(Thr535=)"	""
"0000728810"	"00000075"	"50"	"1443"	"0"	"1443"	"0"	"c.1443C>A"	"r.(?)"	"p.(Tyr481*)"	""
"0000787309"	"00000075"	"50"	"194"	"0"	"194"	"0"	"c.194C>A"	"r.(?)"	"p.(Ser65Tyr)"	"3"
"0000810275"	"00000075"	"50"	"146"	"0"	"146"	"0"	"c.146T>C"	"r.(?)"	"p.(Val49Ala)"	""
"0000810276"	"00000075"	"50"	"651"	"0"	"651"	"0"	"c.651A>C"	"r.(?)"	"p.(Glu217Asp)"	""
"0000810278"	"00000075"	"50"	"1894"	"0"	"1894"	"0"	"c.1894G>A"	"r.(?)"	"p.(Val632Ile)"	""
"0000856548"	"00000075"	"50"	"1910"	"0"	"1910"	"0"	"c.1910C>G"	"r.(?)"	"p.(Thr637Ser)"	""
"0000867304"	"00000075"	"30"	"12"	"0"	"12"	"0"	"c.12G>A"	"r.(?)"	"p.(Pro4=)"	""
"0000867307"	"00000075"	"50"	"1722"	"0"	"1722"	"0"	"c.1722T>A"	"r.(?)"	"p.(Asp574Glu)"	""
"0000896079"	"00000075"	"50"	"1033"	"0"	"1033"	"0"	"c.1033G>A"	"r.(?)"	"p.(Ala345Thr)"	""
"0000909964"	"00000075"	"50"	"1039"	"0"	"1039"	"0"	"c.1039G>A"	"r.(?)"	"p.(Val347Ile)"	""
"0000927324"	"00000075"	"50"	"59"	"0"	"59"	"0"	"c.59A>G"	"r.(?)"	"p.(Lys20Arg)"	""
"0000972351"	"00000075"	"90"	"0"	"0"	"0"	"0"	"c.(?_83-4476)_*80{0}"	"r.?"	"p.?"	"_2i_11_"
"0001006680"	"00000075"	"50"	"136"	"0"	"136"	"0"	"c.136G>A"	"r.(?)"	"p.(Gly46Arg)"	""
"0001006681"	"00000075"	"50"	"1039"	"0"	"1039"	"0"	"c.1039G>T"	"r.(?)"	"p.(Val347Phe)"	""
"0001006682"	"00000075"	"30"	"1894"	"0"	"1894"	"0"	"c.1894G>A"	"r.(?)"	"p.(Val632Ile)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 57
"{{screeningid}}"	"{{variantid}}"
"0000000019"	"0000001309"
"0000000019"	"0000001310"
"0000000209"	"0000001844"
"0000000209"	"0000001845"
"0000000209"	"0000006518"
"0000000210"	"0000008576"
"0000000210"	"0000014480"
"0000017822"	"0000038021"
"0000017827"	"0000038025"
"0000017832"	"0000038035"
"0000017877"	"0000038094"
"0000017878"	"0000038095"
"0000017880"	"0000038097"
"0000017881"	"0000038098"
"0000029695"	"0000053081"
"0000029696"	"0000053085"
"0000029697"	"0000053086"
"0000029698"	"0000053087"
"0000029699"	"0000053088"
"0000029700"	"0000053089"
"0000029701"	"0000053090"
"0000029702"	"0000053092"
"0000029704"	"0000053094"
"0000029705"	"0000053095"
"0000029706"	"0000053099"
"0000029707"	"0000053101"
"0000029708"	"0000053103"
"0000029716"	"0000053111"
"0000029717"	"0000053112"
"0000029719"	"0000053114"
"0000034471"	"0000061564"
"0000034473"	"0000061566"
"0000034474"	"0000061567"
"0000034475"	"0000061568"
"0000034478"	"0000061571"
"0000034479"	"0000061572"
"0000034480"	"0000061573"
"0000034481"	"0000061574"
"0000034482"	"0000061575"
"0000034484"	"0000061578"
"0000034485"	"0000061579"
"0000122839"	"0000211691"
"0000168985"	"0000379123"
"0000184094"	"0000408063"
"0000270653"	"0000604465"
"0000290208"	"0000646860"
"0000290209"	"0000646861"
"0000290607"	"0000647294"
"0000290608"	"0000647295"
"0000297156"	"0000659781"
"0000297885"	"0000660585"
"0000308883"	"0000683317"
"0000308884"	"0000683318"
"0000308885"	"0000683319"
"0000375958"	"0000787309"
"0000430180"	"0000909964"
"0000450376"	"0000972351"