### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MBTPS2)
# 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}}"
"MBTPS2"	"membrane-bound transcription factor peptidase, site 2"	"X"	"p22.12-p22.11"	"unknown"	"NG_012797.2"	"UD_132118629292"	""	"https://www.LOVD.nl/MBTPS2"	"Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases <http://www.le.ac.uk/genetics/collagen/>\r\nOsteogenesis Imperfecta Federation Europe (OIFE) <https://oife.org>"	"1"	"15455"	"51360"	"300294"	"1"	"1"	"1"	"1"	"When using this databse please refer to <a href=\'http://www.ncbi.nlm.nih.gov/pubmed/20672378\'>Aten et al. (2010), Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. Hum.Mutat. 31: 1125-1133</a>.\r\nEstablishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland.\r\nThis database is supported by <a href=\"https://oife.org/\" target=\"_blank\"><img src=\"gfx/LOVD_logo_OIFE.png\" width=\"120\"> Osteogenesis Imperfecta Federation Europe (OIFE)</a>"	""	"g"	"https://databases.lovd.nl/shared/refseq/MBTPS2_codingDNA.html"	"1"	""	"<img src=\"gfx/LOVD_logo_IDdatabase.png\" width=\"320\"><br><b>Osteogenesis Imperfecta Variant Database</b>\r\n<form action=\"\" id=\"SelectGeneDBOI\" method=\"get\" style=\"margin : 0px;\" onsubmit=\"document.location.href=(document.location.href.replace(\'MBTPS2\', $(this).children(\'select\').val())); return false;\">\r\n<select name=\"select_db\" onchange=\"$(this).parent().submit();\">\r\n<option value=\"BMP1\" selected>BMP1 (bone morphogenetic protein 1)</option>\r\n<option value=\"CCDC134\">CCDC134 (coiled-coil domain containing 134)</option>\r\n<option value=\"COL1A1\">COL1A1 (collagen type I alpha 1 chain)</option>\r\n<option value=\"COL1A2\">COL1A2 (collagen type I alpha 2 chain)</option>\r\n<option value=\"CREB3L1\">CREB3L1 (cAMP responsive element binding protein 3 like 1)</option>\r\n<option value=\"CRTAP\">CRTAP (cartilage associated protein)</option>\r\n<option value=\"FAM46A\">FAM46A/TENT5A (family with sequence similarity 46 member A)</option>\r\n<option value=\"FKBP10\">FKBP10 (FKBP prolyl isomerase 10)</option>\r\n<option value=\"IFITM5\">IFITM5 (interferon induced transmembrane protein 5)</option>\r\n<option value=\"KDELR2\">KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2)</option>\r\n<option value=\"LRP5\">LRP5 (LDL receptor related protein 5)</option>\r\n<option value=\"MBTPS2\">MBTPS2 (membrane bound transcription factor peptidase, site 2)</option>\r\n<option value=\"MESDC2\">MESDC2/MESD (mesoderm development candidate 2)</option>\r\n<option value=\"P3H1\">P3H1 (prolyl 3-hydroxylase 1)</option>\r\n<option value=\"P4HB\">P4HB (prolyl 4-hydroxylase subunit beta)</option>\r\n<option value=\"PLOD2\">PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2)</option>\r\n<option value=\"PLS3\">PLS3 (plastin 3)</option>\r\n<option value=\"PPIB\">PPIB (peptidylprolyl isomerase B)</option>\r\n<option value=\"SEC24D\">SEC24D (SEC24 homolog D, COPII coat complex component)</option>\r\n<option value=\"SERPINF1\">SERPINF1 (serpin family F member 1)</option>\r\n<option value=\"SERPINH1\">SERPINH1 (serpin family H member 1)</option>\r\n<option value=\"SP7\">SP7 (Sp7 transcription factor)</option>\r\n<option value=\"SPARC\">SPARC (secreted protein acidic and cysteine rich)</option>\r\n<option value=\"TMEM38B\">TMEM38B (transmembrane protein 38B)</option>\r\n<option value=\"WNT1\">WNT1 (Wnt family member 1)</option>\r\n</select><input type=\"submit\" value=\"Switch OI gene\">\r\n</form>"	"-1"	""	"-1"	"00000"	"2009-08-07 00:00:00"	"00085"	"2022-04-05 13:02:39"	"00006"	"2025-09-24 09:57:29"


## 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}}"
"00000534"	"MBTPS2"	"membrane-bound transcription factor peptidase, site 2"	"001"	"NM_015884.3"	""	"NP_056968.1"	""	""	""	"-197"	"4328"	"1560"	"21857656"	"21903541"	"00000"	"2012-09-13 12:28:58"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 13
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01059"	"IFAP1"	"IFAP syndrome with/without BRESHECK syndrome"	"XLR"	"308205"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2025-09-22 12:55:24"
"01060"	"KFSDX"	"keratosis follicularis spinulosa decalvans, X-linked (KFSDX)"	"XLR"	"308800"	""	""	""	"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"
"02206"	"-"	"Olmsted syndrome, X-linked"	"XLR"	"300918"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"03683"	"OLMS"	"Olmsted syndrome"	"AD"	"614594"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04184"	"stature, short"	"stature, short"	""	""	""	""	""	"00006"	"2015-02-09 15:44:22"	"00006"	"2015-02-09 15:45:17"
"05292"	"IMD"	"immunodeficiency (IMD)"	""	""	""	""	""	"00006"	"2017-06-24 18:16:32"	"00006"	"2017-10-24 17:01:05"
"05296"	"OI"	"osteogenesis imperfecta"	""	""	""	""	""	"00006"	"2017-06-26 22:59:16"	"00006"	"2025-09-23 21:54:31"
"05716"	"KFSD"	"keratosis follicularis spinulosa decalvans (KFDS)"	""	"612843"	""	"follicular hyperkeratosis, progressive cicatricial alopecia, photophobia"	""	"00006"	"2020-04-03 10:05:19"	""	""
"05764"	"IFAP"	"ichthyosis, follicular, with atrichia and photophobia syndrome"	""	""	""	""	""	"00006"	"2020-06-08 19:40:11"	"00006"	"2025-09-22 12:54:03"
"05935"	"OI19"	"osteogenesis imperfecta type XIX (OI19)"	"XLR"	"301014"	""	""	""	"00006"	"2021-05-16 21:41:43"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 8
"{{geneid}}"	"{{diseaseid}}"
"MBTPS2"	"00139"
"MBTPS2"	"01059"
"MBTPS2"	"01060"
"MBTPS2"	"02206"
"MBTPS2"	"05296"
"MBTPS2"	"05716"
"MBTPS2"	"05764"
"MBTPS2"	"05935"


## Individuals ## Do not remove or alter this header ##
## Count = 110
"{{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}}"
"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"	""	""	""	""
"00105902"	""	""	""	"2"	""	"02120"	"{PMID:Lindert 2016:27380894}, {DOI:Lindert 2016:10.1038/ncomms11920}"	"3-generation family, 2 affected males, unaffected heterozygous carrier females, Pat1/II"	"M"	"no"	"Germany"	""	"0"	""	""	"German"	"27380894-FamIIAPat1/II"
"00105905"	""	""	"00105902"	"1"	""	"02120"	"{PMID:Lindert 2016:27380894}, {DOI:Lindert 2016:10.1038/ncomms11920}"	"Pat2/II"	"M"	"no"	"Germany"	"68y"	"0"	""	""	"German"	"27380894-FamIIAPat2/II"
"00105906"	""	""	""	"12"	""	"02120"	"{PMID:Lindert 2016:27380894}, {DOI:Lindert 2016:10.1038/ncomms11920}"	"5-generation family, 12 affecteds, unaffected heterozygous carrier females, PatV7"	"M"	"no"	"Thailand"	""	"0"	""	""	"AsianO"	"27380894-Fam1PatV7"
"00116638"	""	""	""	"1"	""	"01533"	"{PMID:Oeffner 2011:21426410}"	""	"M"	""	""	""	"0"	""	""	"white"	"21426410-Pat2"
"00116639"	""	""	""	"1"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	""	"M"	"?"	"Sweden"	""	"0"	""	""	""	"23316014-Fam10PatII1"
"00116640"	""	""	""	"3"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	"2-generation family, 2 affected males"	"M"	"?"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"23316014-Fam12PatII1"
"00116641"	""	""	"00116640"	"1"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	"affected brother of Fam12PatII1, genotype not analyzed"	"M"	"?"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"23316014-Fam12PatII2"
"00116642"	""	""	"00116640"	"1"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	"mother of Fam12PatII1 and Fam12PatII2, genotype not analyzed"	"F"	"?"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"23316014-Fam12PatI1"
"00116643"	""	""	""	"4"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	""	"M"	"no"	"France"	""	"0"	""	""	""	"23316014-Fam7PatII1"
"00116644"	""	""	"00116643"	"1"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	""	"F"	"?"	"France"	""	"0"	""	""	""	"23316014-Fam7PatI1"
"00116645"	""	""	"00116643"	"1"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	"sister of Fam7PatI1"	"F"	"?"	"France"	""	"0"	""	""	""	"23316014-Fam7PatI3"
"00116646"	""	""	"00116643"	"1"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	"daughter of Fam7PatI3"	"F"	"no"	"France"	""	"0"	""	""	""	"23316014-Fam7PatII2"
"00116647"	""	""	""	"2"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	""	"M"	"?"	"Germany"	""	"0"	""	""	""	"23316014-Fam8PatII2"
"00116648"	""	""	"00116647"	"1"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	"sister of Fam8PatII2"	"F"	"?"	"Germany"	""	"0"	""	""	""	"23316014-Fam8PatII1"
"00116649"	""	""	""	"1"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	""	"M"	"?"	"United States"	""	"0"	""	""	""	"23316014-Fam16PatI1"
"00116650"	""	""	""	"2"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	"son of Fam19PatI1"	"M"	"?"	"France"	""	"0"	""	""	""	"23316014-Fam19PatII1"
"00116651"	""	""	"00116650"	"1"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	"mother of Fam19PatII1"	"F"	"?"	"France"	""	"0"	""	""	""	"23316014-Fam19PatI1"
"00116652"	""	""	""	"2"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	"brother of Fam15PatII2"	"M"	"?"	"Lebanon"	""	"0"	""	""	""	"23316014-Fam15PatII1"
"00116653"	""	""	"00116652"	"1"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	"brother of Fam15PatII1"	"M"	"?"	"Lebanon"	""	"0"	""	""	""	"23316014-Fam15PatII2"
"00116654"	""	""	""	"3"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	""	"M"	"?"	"Germany"	""	"0"	""	""	""	"23316014-Fam9PatII1"
"00116655"	""	""	"00116654"	"1"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	"mother of Fam9PatII1 and Fam9PatII2"	"F"	"?"	"Germany"	""	"0"	""	""	""	"23316014-Fam9PatI1"
"00116656"	""	""	"00116654"	"1"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	"sister of Fam9PatII1"	"F"	"?"	"Germany"	""	"0"	""	""	""	"23316014-Fam9PatII2"
"00116657"	""	""	""	"1"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	""	"M"	"?"	"Algeria"	""	"0"	""	""	""	"23316014-Fam13PatI1"
"00116658"	""	""	""	"2"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	""	"M"	"?"	"Syria"	""	"0"	""	""	""	"23316014-Fam11PatII1"
"00116659"	""	""	"00116658"	"1"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	"brother of Fam11PatII1"	"M"	"?"	"Syria"	""	"0"	""	""	""	"23316014-Fam11PatII2"
"00116660"	""	""	""	"2"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	""	"M"	"?"	"Netherlands"	""	"0"	""	""	""	"23316014-Fam14PatII1"
"00116661"	""	""	"00116660"	"1"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	"mother of Fam14PatII1"	"F"	"?"	"Netherlands"	""	"0"	""	""	""	"23316014-Fam14PatI1"
"00116662"	""	""	""	"1"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	""	"M"	"?"	"Sweden"	""	"0"	""	""	""	"23316014-Fam18PatII2"
"00116663"	""	""	""	"1"	""	"01984"	"{PMID:Bornholdt 2013:23316014}"	""	"M"	"?"	"Sri Lanka"	""	"0"	""	""	""	"23316014-Fam17PatI1"
"00116664"	""	""	""	"5"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"3-generation family, 5 affected carriers (3F, 2M), Fam1PatI2"	"F"	""	"Germany"	""	"0"	""	""	"European"	"19361614-Fam1PatI2"
"00116665"	""	""	"00116664"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam1PatII2"	"F"	""	"Germany"	""	"0"	""	""	"European"	"19361614-Fam1PatII2"
"00116666"	""	""	"00116664"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam1PatII5"	"M"	""	"Germany"	""	"0"	""	""	"European"	"19361614-Fam1PatII5"
"00116667"	""	""	"00116664"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam1PatIII1"	"M"	""	"Germany"	""	"0"	""	""	"European"	"19361614-Fam1PatIII1"
"00116668"	""	""	"00116664"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam1PatIII2"	"F"	""	"Germany"	""	"0"	""	""	"European"	"19361614-Fam1PatIII2"
"00116669"	""	""	""	"7"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"4-generation family, 4 affected carriers (2F, 2M)/3 unaffected carriers (3F), Fam2PatI2"	"F"	""	"Australia"	""	"0"	""	""	"European"	"19361614-Fam2PatI2"
"00116670"	""	""	"00116669"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam2PatII2"	"F"	""	"Australia"	""	"0"	""	""	"European"	"19361614-Fam2PatII2"
"00116671"	""	""	"00116669"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam2PatII8"	"M"	""	"Australia"	""	"0"	""	""	"European"	"19361614-Fam2PatII8"
"00116672"	""	""	"00116669"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam2PatIII1"	"M"	""	"Australia"	""	"0"	""	""	"European"	"19361614-Fam2PatIII1"
"00116673"	""	""	"00116669"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam2PatIII10"	"F"	""	"Australia"	""	"0"	""	""	"European"	"19361614-Fam2PatIII10"
"00116674"	""	""	"00116669"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam2PatIII2"	"F"	""	"Australia"	""	"0"	""	""	"European"	"19361614-Fam2PatIII2"
"00116675"	""	""	"00116669"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam2PatIII9"	"F"	""	"Australia"	""	"0"	""	""	"European"	"19361614-Fam2PatIII9"
"00116676"	""	""	"00116669"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam2PatIV2"	"M"	""	"Australia"	""	"0"	""	""	"European"	"19361614-Fam2PatIV2"
"00116677"	""	""	""	"9"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"3-generation family, 6 affected carriers (2F, 4M)/3 unaffected carriers (3F), Fam2PatI2"	"F"	""	"Germany"	""	"0"	""	""	"European"	"19361614-Fam3PatI2"
"00116678"	""	""	"00116677"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam3PatII2"	"F"	""	"Germany"	""	"0"	""	""	"European"	"19361614-Fam3PatII2"
"00116679"	""	""	"00116677"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam3PatII4"	"F"	""	"Germany"	""	"0"	""	""	"European"	"19361614-Fam3PatII4"
"00116680"	""	""	"00116677"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam3PatII5"	"F"	""	"Germany"	""	"0"	""	""	"European"	"19361614-Fam3PatII5"
"00116681"	""	""	"00116677"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam3PatII6"	"M"	""	"Germany"	""	"0"	""	""	"European"	"19361614-Fam3PatII6"
"00116682"	""	""	"00116677"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam3PatII7"	"M"	""	"Germany"	""	"0"	""	""	"European"	"19361614-Fam3PatII7"
"00116683"	""	""	"00116677"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam3PatIII1"	"F"	""	"Germany"	""	"0"	""	""	"European"	"19361614-Fam3PatIII1"
"00116684"	""	""	"00116677"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam3PatIII3"	"M"	""	"Germany"	""	"0"	""	""	"European"	"19361614-Fam3PatIII3"
"00116685"	""	""	"00116677"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam3PatIII4"	"M"	""	"Germany"	""	"0"	""	""	"European"	"19361614-Fam3PatIII4"
"00116686"	""	""	""	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"mildly affected mother (dry skin, bald patches scalp)"	"M"	""	"Spain"	""	"0"	""	""	"European"	"19361614-Fam4PatI1"
"00116687"	""	""	""	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}, PatIV8 in {PMID:Boente 2000:10694306}"	""	"M"	""	"Argentina"	""	"0"	""	""	"European"	"19361614-Fam5PatI1"
"00116688"	""	""	""	"3"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"ion family, 2 affected brothers and carrier mother PatI2"	"F"	""	"Algeria"	""	"0"	""	""	""	"19361614-Fam6PatI2"
"00116689"	""	""	"00116688"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam6PatII1"	"M"	""	"Algeria"	""	"0"	""	""	""	"19361614-Fam6PatII1"
"00116690"	""	""	"00116688"	"1"	""	"01533"	"{PMID:Oeffner 2009:19361614}"	"Fam6PatII4"	"M"	""	"Algeria"	""	"0"	""	""	""	"19361614-Fam6PatII4"
"00116691"	""	""	""	"1"	""	"01533"	"{PMID:Ming 2009:19689518}"	"maternal second cousin of 19361614.Fam2-I.2, mother of 19361614.Fam2-III.1 / .2"	"M"	""	"Australia"	""	"0"	""	""	"European"	""
"00116692"	""	""	""	"2"	""	"01533"	"{PMID:Ding 2010:20854407}"	"3-generation family, carrier mother with 2 affected brothers, PatIII.2"	"M"	""	"China"	""	"0"	""	""	""	"20545687-FamPatIII1"
"00116693"	""	""	"00116692"	"1"	""	"01533"	"{PMID:Ding 2010:20854407}"	"PatIII2"	"M"	""	"China"	""	"0"	""	""	""	"20545687-FamPatIII2"
"00116694"	""	""	""	"33"	""	"01533"	"{PMID:van Osch 1992:1552542}, {PMID:Oosterwijk 1997:9341865}, {PMID:Aten 2010:20672378}"	"large 8-generation family, 21 male affecteds and 12 carriers"	"M"	""	"Netherlands"	""	"0"	""	""	""	"20672378-FamA"
"00116695"	""	""	""	"8"	""	"01533"	"{PMID:Aten 2010:20672378}"	"large 4-generation family, 5 male affecteds and 3 carriers"	"M"	""	"United States"	""	"0"	""	""	""	"20672378-FamB"
"00116696"	""	""	""	"1"	""	"01533"	"{PMID:Porteous 1998:9598732}, {PMID:Aten 2010:20672378}"	"unrelated families"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"20672378-FamC"
"00116697"	""	""	""	"1"	""	"01533"	""	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00116699"	""	""	""	"1"	""	"01533"	""	"borther of Fam1.b"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00116700"	""	""	""	"1"	""	"01533"	""	"borther of Fam1.a"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00116701"	""	""	""	"2"	""	"01533"	""	"mother has several mild symptoms"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00116702"	""	""	""	"1"	""	"01533"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00116703"	""	""	""	"1"	""	"01533"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00116704"	""	""	""	"1"	""	"01533"	""	"variant reported by LDGA"	""	""	"Canada"	""	"0"	""	""	""	""
"00116705"	""	""	""	"1"	""	"01533"	"{PMID:Tang 2011:21315478}"	""	"M"	""	"China"	""	"0"	""	""	""	"patient"
"00116706"	""	""	""	"1"	""	"00006"	"{PMID:Oeffner 2011:21426410}"	""	"M"	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"21426410-Pat3"
"00295013"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00386950"	""	""	""	"1"	""	"03897"	""	""	"M"	"no"	"Ukraine"	""	""	""	""	""	""
"00433135"	""	""	""	"1"	""	"00006"	"{PMID:Stray-Pedersen 2017:27577878}"	"2-generation family, 1 affected, unaffected heterozygous carrier mother"	"M"	""	"Norway"	""	"0"	""	""	""	"Pat115,1"
"00466659"	""	""	""	"1"	""	"00006"	"{PMID:Cuperus 2025:40960197}, {DOI:Cuperus 2025:10.1111/ddg.15941}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	"no"	"Netherlands"	""	"0"	""	""	""	"patient"
"00466660"	""	""	""	"10"	""	"00006"	"{PMID:Chen 2019:29951998}, {DOI:Chen 2019: 10.1111/ijd.14129}"	"4-generation family, 10 affected, 6 female carriers"	"M"	""	"China"	""	"0"	""	""	""	"FamPatIV5"
"00466661"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2016:27663151}, {DOI:Zhang 2016:10.1111/ced.12889}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	"China"	""	"0"	""	""	""	"patient"
"00466663"	""	""	""	"2"	""	"00006"	"{PMID:Haghighi 2013:22931912}"	"5-generation family, 2 affected males"	"M"	"yes"	"Iran"	""	"0"	""	""	""	"FamPatII1/III2"
"00466664"	""	""	""	"1"	""	"00006"	"{PMID:Araujo 2015:25685152}"	""	"M"	""	"Portugal"	""	"0"	""	""	""	"patient"
"00466665"	""	""	""	"1"	""	"00006"	"{PMID:Fong 2015:25683132}"	"2-generation family, 1 affected, unaffected carrier mother"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"patient"
"00466666"	""	""	""	"4"	""	"00006"	"{PMID:Fong 2012:22816986}"	"4-generation family, 4 affected, 2 affected carrier mothers"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"PamPatIV1"
"00466667"	""	""	""	"1"	""	"00006"	"{PMID:Pietrzak 2012:22781927}"	"2-generation family, 1 affected, unaffected carrier mother/grandmother"	"M"	""	"Poland"	""	"0"	""	""	""	"patient"
"00466668"	""	""	""	"1"	""	"00006"	"{PMID:Naiki 2012:22105905}"	"2-generation family, 1 affected, unaffected carrier mother"	"M"	""	"Japan"	""	"0"	""	""	""	"patient"
"00466669"	""	""	""	"1"	""	"00006"	"{PMID:Nakayama 2011:21179107}"	"2-generation family, 1 affected, unaffected carrier mother"	"M"	""	"Japan"	""	"0"	""	""	""	"patient"
"00466670"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2013:24313295}"	"2-generation family, 1 affected, unaffected carrier mother"	"M"	""	"China"	""	"0"	""	""	""	"patient"
"00466671"	""	""	""	"1"	""	"00006"	"{PMID:Izumi 2013:23551428}"	"2-generation family, 1 affected, unaffected carrier mother"	"M"	""	"United States"	""	"0"	""	""	""	"patient"
"00466672"	""	""	""	"1"	""	"00006"	"{PMID:Corujeira 2013:24090718}"	""	"M"	""	"Portugal"	""	"0"	""	""	""	"patient"
"00466673"	""	""	""	"1"	""	"00006"	"{PMID:Lim 2023:37305034}"	"4-generation family, 3 carrier females, fetus (terinated pregnancy)"	"M"	""	""	""	"0"	""	""	""	"fetus"
"00466674"	""	""	""	"1"	""	"00006"	"{PMID:Ferrari 2017:28329493}"	""	"M"	""	"Argentina"	""	"0"	""	""	""	"patient"
"00466675"	""	""	""	"1"	""	"00006"	"{PMID:Nemer 2017:28717930}"	"family, 2 affected brothers"	"M"	""	"Lebanon"	""	"0"	""	""	""	"family"
"00466676"	""	""	""	"1"	""	"00006"	"{PMID:Yang 2019:30294811}"	"3-generation family, 1 affected, 3 unaffected carrier females"	"M"	""	"China"	""	"0"	""	""	""	"patient"
"00466677"	""	""	""	"1"	""	"00006"	"{PMID:Chen 2020:31646662}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"China"	""	"0"	""	""	""	"patient"
"00466678"	""	""	""	"1"	""	"00006"	"{PMID:Jiang 2019:31215178}"	"2-generation family, 1 affected, unaffected carrier mother"	"M"	""	"China"	""	"0"	""	""	""	"patient"
"00466689"	""	""	""	"1"	""	"00006"	"{PMID:Plachy 2019:30753492}, {PMID:Plachy 2023:36714562}"	""	"M"	""	"Czech Republic"	""	"0"	""	""	""	"Pat10;Pat14"
"00466705"	""	""	""	"2"	""	"00006"	"{PMID:Khan 2019:30589367}"	"2-generation family, 2 affected brothers, carrier mother"	"M"	""	"United Arab Emirates"	""	"0"	""	""	""	"family"
"00466706"	""	""	""	"8"	""	"00006"	"{PMID:Basilious 2020:32482964}"	"4-generation family, 8 affected, 5carrier females"	"M"	""	"Canada"	""	"0"	""	""	""	"FamPatIV8"
"00466707"	""	""	""	"1"	""	"00006"	"{PMID:Murase 2020:31907960}"	""	"F"	""	"China"	""	"0"	""	""	""	"patient"
"00466708"	""	""	""	"8"	""	"00006"	"{PMID:Lindert 2016:27380894}"	"5-generation family, 12 affected, 8 unaffected carrier females"	"M"	""	"Thailand"	""	"0"	""	""	""	"Fam1PatV7"
"00466709"	""	""	""	"7"	""	"00006"	"{PMID:Lindert 2016:27380894}"	"5-generation family, 7 affected, 8 unaffected carrier females"	"M"	""	"Germany"	""	"0"	""	""	""	"Fam2PatV1"
"00466710"	""	""	""	"1"	""	"00006"	"{PMID:Irurzun 2021:33742461}"	"2-generation family, 1 affected, unaffected carrier mother"	"M"	""	"Argentina"	""	"0"	""	""	""	"Fam1Pat"
"00466713"	""	""	""	"1"	""	"00006"	"{PMID:Strong 2021:34655156}"	"2-generation family, 1 affected, unaffected carrier mother"	"M"	""	"United States"	""	"0"	""	""	""	"patient"
"00466829"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat116"
"00466842"	""	""	""	"1"	""	"00006"	"{PMID:Chen 2023:36539961}"	"2-generation family, 1 affected, unaffected carrier mother"	"M"	""	"China"	""	"0"	""	""	""	"patient"
"00466843"	""	""	""	"1"	""	"00006"	"{PMID:Shin 2022:35221597}"	"2-generation family, 1 affected, unaffected carrier mother"	"M"	""	"Korea"	""	"0"	""	""	""	"patient"
"00466844"	""	""	""	"1"	""	"00006"	"{PMID:Rubaian 2023:38089015}"	"2-generation family, 1 affected, unaffected carrier mother"	"M"	""	"Saudi Arabia"	""	"0"	""	""	""	"patient"
"00466845"	""	""	""	"1"	""	"00006"	"{PMID:Caengprasath 2023:37923657}"	"3-generation family, 1 affected, unaffected carrier mother/grandmother"	"M"	""	"Thailand"	""	"0"	""	""	""	"Pat1"
"00466846"	""	""	""	"1"	""	"00006"	"{PMID:Caengprasath 2023:37923657}"	"2-generation family, 1 affected, unaffected carrier mother"	"M"	""	"Thailand"	""	"0"	""	""	""	"Pat2"
"00466847"	""	""	""	"1"	""	"00006"	"{PMID:Migliavacca 2023:37042943}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"Brazil"	""	"0"	""	""	""	"patient"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 110
"{{individualid}}"	"{{diseaseid}}"
"00000208"	"01157"
"00000209"	"01157"
"00105902"	"05296"
"00105905"	"05296"
"00105906"	"05296"
"00116638"	"01059"
"00116639"	"01059"
"00116640"	"01059"
"00116641"	"01059"
"00116642"	"01059"
"00116643"	"01059"
"00116644"	"01059"
"00116645"	"01059"
"00116646"	"01059"
"00116647"	"01059"
"00116648"	"01059"
"00116649"	"01059"
"00116650"	"01059"
"00116651"	"01059"
"00116652"	"01059"
"00116653"	"01059"
"00116654"	"01059"
"00116655"	"01059"
"00116656"	"01059"
"00116657"	"01059"
"00116658"	"01059"
"00116659"	"01059"
"00116660"	"01059"
"00116661"	"01059"
"00116662"	"01060"
"00116663"	"01059"
"00116664"	"00198"
"00116665"	"00198"
"00116666"	"01059"
"00116667"	"01059"
"00116668"	"00198"
"00116669"	"00198"
"00116670"	"00198"
"00116671"	"01059"
"00116672"	"01059"
"00116673"	"00198"
"00116674"	"00198"
"00116675"	"00198"
"00116676"	"01059"
"00116677"	"00198"
"00116678"	"00198"
"00116679"	"00198"
"00116680"	"00198"
"00116681"	"00198"
"00116682"	"00198"
"00116683"	"00198"
"00116684"	"01059"
"00116685"	"01059"
"00116686"	"01059"
"00116687"	"01059"
"00116688"	"00198"
"00116689"	"01059"
"00116690"	"01059"
"00116691"	"01059"
"00116692"	"01059"
"00116693"	"01059"
"00116694"	"01060"
"00116695"	"01060"
"00116696"	"01060"
"00116697"	"01059"
"00116699"	"01059"
"00116700"	"01059"
"00116701"	"01059"
"00116702"	"01059"
"00116703"	"00198"
"00116704"	"00198"
"00116705"	"01059"
"00116706"	"01059"
"00295013"	"00198"
"00386950"	"05935"
"00433135"	"05292"
"00466659"	"05716"
"00466660"	"05716"
"00466661"	"05716"
"00466663"	"03683"
"00466664"	"05764"
"00466665"	"05764"
"00466666"	"05716"
"00466667"	"05764"
"00466668"	"00198"
"00466669"	"05764"
"00466670"	"05764"
"00466671"	"05764"
"00466672"	"00198"
"00466673"	"00198"
"00466674"	"05764"
"00466675"	"05764"
"00466676"	"05764"
"00466677"	"05764"
"00466678"	"05764"
"00466689"	"04184"
"00466705"	"05764"
"00466706"	"05764"
"00466707"	"05764"
"00466708"	"05296"
"00466709"	"05296"
"00466710"	"05764"
"00466713"	"00198"
"00466829"	"05296"
"00466842"	"05764"
"00466843"	"05764"
"00466844"	"05764"
"00466845"	"05764"
"00466846"	"05764"
"00466847"	"05764"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01059, 01060, 01157, 02206, 03683, 04184, 05292, 05296, 05716, 05764, 05935
## Count = 108
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"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"	""	""	""	""	""	""	""	""	""
"0000083821"	"05296"	"00105905"	"02120"	"Familial, X-linked dominant"	""	"osteogenesis imperfecta, multiple fractures, osteopenia, bowing of humeri, radii and tibiae, kyphoscoliosis, anterior vertebral wedging, short stature, fractures declined post puberty, pectus excavatum"	""	""	""	""	""	""	""	""	""	""	""
"0000083822"	"05296"	"00105902"	"02120"	"Familial, X-linked dominant"	""	"osteogenesis Imperfecta, bowing of humeri, radii and tibiae,, fractures of femora, ribs and clavicles, kyphoscoliosis, anterior vertebral wedging, short stature"	""	""	""	""	""	""	""	""	""	""	""
"0000083823"	"05296"	"00105906"	"02120"	"Familial, X-linked dominant"	""	"osteogenesis imperfecta, fractures beginning during gestation, shortstature, white sclerae, variable scoliosis and pectal deformity,, striking tibial anterior angulation and generalized osteopenia"	""	""	""	""	""	""	""	""	""	""	""
"0000092117"	"01059"	"00116638"	"01533"	"Unknown"	"28y"	"congenital ichthyosis, total alopecia, inguinal hernia, short stature, photophobia, thickened dystrophic nails; typical IFAP triad, psychomotor development normal; corneal scars"	"00y00m01d"	""	""	""	""	""	""	""	""	""	""
"0000092119"	"01059"	"00116666"	"01533"	"Familial"	""	"death 1y; IFAP triad, pronounced photophobia; IFAPS"	""	""	""	""	""	""	""	""	""	""	""
"0000092120"	"01059"	"00116667"	"01533"	"Familial"	""	"IFAP triad, eczematous changes shoulders/limbs, frequent skin infections, nail dystrophy, ptosis left upper eyelid; IFAPS"	""	""	""	""	""	""	""	""	""	""	""
"0000092121"	"01059"	"00116671"	"01533"	"Familial"	""	"born with hair, subsequently developed alopecia, dystrophic fingernails; atypical; IFAPS"	""	""	""	""	""	""	""	""	""	""	""
"0000092122"	"01059"	"00116672"	"01533"	"Familial"	""	"birth-full head dark hair; 4m-hair shed, no new hair appeared (scalp/eyebrows); 18m-total alopecia, complete absence scalp hair, eyebrows, diminutive eyelashes, dry skin widespread follicular papules, normal teeth, no dysmorphic features, not photophobic, sweat test normal; 10y-prominent generalized follicular ichthyosis, dystrophy fingernails, mild photophobia, astigmatism, recurrent staphylococcal folliculitis, psoriasiform plaques elbows, knees, Achilles tendons; IFAPS"	""	""	""	""	""	""	""	""	""	""	""
"0000092123"	"01059"	"00116676"	"01533"	"Familial"	""	"IFAP triad, dystrophic nails, perleche; IFAPS"	""	""	""	""	""	""	""	""	""	""	""
"0000092124"	"00198"	"00116681"	"01533"	"Familial"	""	"death neonatal period; atrichia, cleft hand; lethal"	""	""	""	""	""	""	""	""	""	""	""
"0000092125"	"00198"	"00116682"	"01533"	"Familial"	""	"death neonatal period; atrichia, cleft hand; lethal"	""	""	""	""	""	""	""	""	""	""	""
"0000092126"	"01059"	"00116684"	"01533"	"Familial"	""	"IFAPS"	""	""	""	""	""	""	""	""	""	""	""
"0000092127"	"01059"	"00116685"	"01533"	"Familial"	""	"IFAPS"	""	""	""	""	""	""	""	""	""	""	""
"0000092128"	"01059"	"00116686"	"01533"	"Isolated (sporadic)"	""	"IFAP triad with pronounced photophobia, dermatitis arms/legs, corneal pannus; IFAPS"	""	""	""	""	""	""	""	""	""	""	""
"0000092129"	"01059"	"00116687"	"01533"	"Isolated (sporadic)"	""	"IFAP triad, hyperkeratosis around joints, perlèche, perianal erythema, plantar keratoderma, subungual hyperkeratoses, periungual erythema and hyperkeratosis, inguinal hernia, cryptorchidism; IFAPS"	""	""	""	""	""	""	""	""	""	""	""
"0000092130"	"01059"	"00116689"	"01533"	"Isolated (sporadic)"	""	"IFAP triad; see paper ..."	""	""	""	""	""	""	""	""	""	""	""
"0000092131"	"01059"	"00116690"	"01533"	"Isolated (sporadic)"	""	"IFAP triad; IFAPS"	""	""	""	""	""	""	""	""	""	""	""
"0000092132"	"01059"	"00116699"	"01533"	"Unknown"	""	"7y-IFAP, corneal scarring, abnormal nails, development delay, growth retardation, head tilt, corneall involvement, brain abnormalities, seizures; IFAPS"	""	""	""	""	""	""	""	""	""	""	""
"0000092133"	"01059"	"00116700"	"01533"	"Unknown"	""	"4y-IFAP, corneal scarring, abnormal nails, development delay, growth retardation, head tilt, corneall involvement, brain abnormalities, seizures; IFAPS"	""	""	""	""	""	""	""	""	""	""	""
"0000092134"	"01059"	"00116701"	"01533"	"Unknown"	""	"3y-IFAP, corneal scarring, developmental delay, growth retardation; IFAPS"	""	""	""	""	""	""	""	""	""	""	""
"0000092135"	"01059"	"00116702"	"01533"	"Unknown"	""	"15y-IFAP, developmental delay, head tilt; IFAPS"	""	""	""	""	""	""	""	""	""	""	""
"0000092136"	"01059"	"00116691"	"01533"	"Familial"	""	"scalp alopecia; IFAPS"	""	""	""	""	""	""	""	""	""	""	""
"0000092137"	"01060"	"00116694"	"01533"	"Familial"	""	"variable phenotype in females correlating with X-inactivation; normal plasma lipid profile; KFSD"	""	""	""	""	""	""	""	""	""	""	""
"0000092138"	"01060"	"00116695"	"01533"	"Familial"	""	"KFSD"	""	""	""	""	""	""	""	""	""	""	""
"0000092139"	"01060"	"00116696"	"01533"	"Familial"	""	"KFSD"	""	""	""	""	""	""	""	""	""	""	""
"0000092140"	"01059"	"00116692"	"01533"	"Familial"	"09y"	"born with full head of hair. dry and rough skin. hypotrochosis at age 9. mild photophobia. mild myopia; IFAP syndrome; no intellectual disability"	""	""	""	""	""	""	""	""	""	""	""
"0000092141"	"01059"	"00116693"	"01533"	"Familial"	"06y"	"born with full head of hair, later patchy alopecia. photophobia. left inguinal hernia. widespread follicular papules; IFAP syndrome; no intellectual disability"	""	""	""	""	""	""	""	""	""	""	""
"0000092142"	"01059"	"00116697"	"01533"	"Unknown"	"05y"	"congenital alopecia. photophobia. seizures. bilateral cryptorchidism. generalized skin dryness. thickened nails. delayed bone age. growth retardation. psychomotor retardation; IFAP syndrome; intellectual disability"	""	""	""	""	""	""	""	""	""	""	""
"0000092143"	"00198"	"00116664"	"01533"	"Familial"	""	"dry skin, congenital bald patches scalp"	""	""	""	""	""	""	""	""	""	""	""
"0000092144"	"00198"	"00116665"	"01533"	"Familial"	""	"dry skin, congenital bald patches scalp, asymmetrical distribution body hair, linear lesions of scaling, atrophy/hypohidrosis arms/back; atypical"	""	""	""	""	""	""	""	""	""	""	""
"0000092145"	"00198"	"00116668"	"01533"	"Familial"	""	"dry skin, linear lesions of scaling and atrophy, predominantly involving the left arm, congenital bald area scalp; atypical"	""	""	""	""	""	""	""	""	""	""	""
"0000092146"	"00198"	"00116669"	"01533"	"Familial"	""	"sparse hair"	""	""	""	""	""	""	""	""	""	""	""
"0000092147"	"00198"	"00116670"	"01533"	"Familial"	""	"unaffected carrier"	""	""	""	""	""	""	""	""	""	""	""
"0000092148"	"00198"	"00116674"	"01533"	"Familial"	""	"13y-parse scalp hair, dystrophic fingernails"	""	""	""	""	""	""	""	""	""	""	""
"0000092149"	"00198"	"00116675"	"01533"	"Familial"	""	"patchy scalp hair, dystrophic fingernails"	""	""	""	""	""	""	""	""	""	""	""
"0000092150"	"00198"	"00116673"	"01533"	"Familial"	""	"unaffected carrier"	""	""	""	""	""	""	""	""	""	""	""
"0000092151"	"00198"	"00116677"	"01533"	"Familial"	""	"dry skin"	""	""	""	""	""	""	""	""	""	""	""
"0000092152"	"00198"	"00116678"	"01533"	"Familial"	""	"linear lesions atrophoderma, linear hairless scalp lesion, hyperkeratotic plaque right knee, bilateral plantar keratoderma; atypical"	""	""	""	""	""	""	""	""	""	""	""
"0000092153"	"00198"	"00116679"	"01533"	"Familial"	""	"linear lesions atrophoderma, partial absence retinal rods (right eye); atypical"	""	""	""	""	""	""	""	""	""	""	""
"0000092154"	"00198"	"00116680"	"01533"	"Familial"	""	"unaffected carrier"	""	""	""	""	""	""	""	""	""	""	""
"0000092155"	"00198"	"00116683"	"01533"	"Familial"	""	"unaffected carrier"	""	""	""	""	""	""	""	""	""	""	""
"0000092156"	"00198"	"00116688"	"01533"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000092157"	"00198"	"00116703"	"01533"	"Unknown"	""	"GWA"	""	""	""	""	""	""	""	""	""	""	""
"0000092158"	"01059"	"00116705"	"01533"	"Familial"	"11y"	"congenital alopecia, photophobia, absent eyebrows and eyelashes (total atrichia). scaly plaques on scalp, extensor part extremities. spiny keratotic follicular papules abdomen and axillae. impaired vision. delayed bone age. MR; IFAP syndrome; intellectual disability; Ocular_changes"	"01d"	""	""	""	""	""	""	""	""	""	""
"0000092159"	"01059"	"00116639"	"01984"	"Familial"	""	"Dry skin at birth. Follicular keratosis (inflamed) and hair-loss from 3 mo. of age. Alopecia totalis. Photophobia. Psychomotor development normal. The boy´s maternal uncle reportedly has a similar phenotype but did not wish to be investigated; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092160"	"01059"	"00116640"	"01984"	"Familial, X-linked dominant, male sparing"	""	"IFAP triad and follicular hyperkeratosis present from infancy; no hair or eyelashes; corneal ulceration; poor teeth (? caries), poor nails (? chronic fungal infection);  mild global developmental delay, generalised seizures, strabismus, macrocephaly (>90th centile) and frontal bossing; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092161"	"01059"	"00116641"	"01984"	"Familial, X-linked dominant, male sparing"	""	"IFAP triad and follicular hyperkeratosis; punctate epithelial erosions of the cornea with corneal vascularisation; poor teeth (? caries), poor nails (? chronic fungal infection); mild global developmental delay; inguinal hernia; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092162"	"01059"	"00116642"	"01984"	"Familial, X-linked dominant, male sparing"	""	"Single patch of alopecia; normal  skin apart from eczema during childhood); normal eyes (apart from surgically-corrected strabismus); IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092163"	"01059"	"00116643"	"01984"	"Familial, X-linked dominant, male sparing"	""	"IFAP triad; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092164"	"01059"	"00116644"	"01984"	"Familial, X-linked dominant, male sparing"	""	"Eczema and psoriasis; severe ichthyosis with palmo-plantar hyperkeratosis; ungual dysplasia; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092165"	"01059"	"00116645"	"01984"	"Familial, X-linked dominant, male sparing"	""	"Eczema and psoriasis; severe ichthyosis with palmo-plantar hyperkeratosis; ungual dysplasia; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092166"	"01059"	"00116646"	"01984"	"Familial, X-linked dominant, male sparing"	""	"Keratosis pilaris, mainly affecting the lower limbs; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092167"	"01059"	"00116647"	"01984"	"Familial"	""	"Complete atrichia, pronounced mental retardation, short stature, mild photophobia, scarring of cornea at age 3 y, ichthyotic skin, hyperkeratotic nails, mediastinal germ cell tumor at age 20 y; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092168"	"01059"	"00116648"	"01984"	"Familial"	""	"none reported; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092169"	"01059"	"00116649"	"01984"	"Isolated (sporadic)"	""	"Hispanic male born at 38 weeks, pregnancy complicated by polyhydramnios. At birth diffusely red and dry skin, absent scalp hair, eyebrows, eyelashes; diffuse, spiny, keratotic follicular papules most prominent over scalp and eyebrows. At 4 weeks complete loss of scalp hair, eyebrows and eyelashes; very tiny keratotic spicules all over, most noticeable on forehead; nails normal; no keratoderma; hearing screen normal; ophthalmology exam reported as normal; no mention of photophobia. At 1 year 9 month: photophobia present; immunological abnormalities, mild B cell lymphopenia, poor antibody response. No family history of similar disorders; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092170"	"01059"	"00116650"	"01984"	"Familial"	""	"IFAP triad; mental retardation, vertebral anomalies; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092171"	"01059"	"00116651"	"01984"	"Familial"	""	"none reported; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092172"	"00198"	"00116704"	"01533"	"Unknown"	""	"kfsd/ifap"	""	""	""	""	""	""	""	""	""	""	""
"0000092173"	"01059"	"00116652"	"01984"	"Familial"	""	"Ichthyosis follicularis; noncicatricial universal alopecia; photophobia, madarosis; corneal vascularisation; hyperkeratotic psoriasis-like lesions; nail dystrophy; inguineal herniae; cryptorchidism, short statue; seizures; psychomotor developmental delay; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092174"	"01059"	"00116653"	"01984"	"Familial"	""	"Ichthyosis follicularis, noncicatricial universal alopecia, photophobia, madarosis, corneal vascularisation, hyperkeratotic psoriasis-like lesions, nail dystrophy; inguineal herniae; cryptorchidism; short statue; seizures; psychomotor developmental delay; bilateral absence of 4th fingers and camptodactyly; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092175"	"01059"	"00116654"	"01984"	"Familial, X-linked dominant, male sparing"	""	"Congenital ichthyosis with dry skin and mild scaling, follicular keratosis of capillitium with mild erythema, primary universal alopecia, no eyebrows, very small eyelashes, pronounced follicular keratoses on knees and over the Achilles tendon, patches of â??psoriasiform skin lesionsâ? on the lower legs (at age of 3 y), generalized hypohidrosis, history of perioral eczema. Histology: Ichthyosis follicularis, atrichia, hyperkeratosis of the sweet gland ducts. Neurology: delayed speech development, EEG normal. ENT: Moderate hearing deficit (> 40 db). Others: Mild syndactyly of the toe, inguinal hernia at the age of 4y; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092176"	"01059"	"00116655"	"01984"	"Familial, X-linked dominant, male sparing"	""	"Striate hyperkeratosis along Blaschko lines of both legs and soles with striate hypohidrosis (sweat testing). Histology from affected areas: ichthyosis follicularis; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092177"	"01059"	"00116656"	"01984"	"Familial, X-linked dominant, male sparing"	""	"Delayed speech development, skin phenotype:none reported; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092178"	"01059"	"00116657"	"01984"	"Unknown"	""	"At 2 years of age: non inflammatory diffuse follicular hyperkeratosis, noncicatricial generalised congenital alopecia, and photophobia; ophthalmologic examination normal; onychodystrophia of third toe of right foot (mycologic examination negative); right cryptorchidism; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092179"	"01059"	"00116658"	"01984"	"Familial"	""	"Dry skin and keratosis follicularis since birth. Hair-loss at 12 mo. of age resulting in almost complete alopecia. Photophobia and corneal ulcers. Psychomotor development normal; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092180"	"01059"	"00116659"	"01984"	"Familial"	""	"Dry skin and keratosis follicularis since birth. Hair-loss at 12 mo. of age resulting in almost complete alopecia. Photophobia and corneal ulcers. Psychomotor development normal; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092181"	"01059"	"00116660"	"01984"	"Familial"	""	"IFAP; mild psychomotor delay; inguinal hernia; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092182"	"01059"	"00116661"	"01984"	"Familial"	""	"Normal phenotype, without IFAP related problems; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092183"	"01060"	"00116662"	"01984"	"Isolated (sporadic)"	""	"At birth dry, itchy skin, photophobia; at age 4 y corneal dots; at age 8 y widespread follicular hyperkeratosis, red cheeks, and thin eyebrows; hair on scalp appears normal; without family history of KFSD"	""	""	""	""	""	""	""	""	""	""	""
"0000092184"	"01059"	"00116663"	"01984"	"Isolated (sporadic)"	""	"IFAP triad; reduced sweating, normal nails and teeth, marked ichthyosis over pressure areas, extensor surfaces of limbs, buttock cleft; poor vision, myopia; severe photophobia, corneal scars; hoarse voice with vocal nodules; psychomotor development normal; height and weight <0.4th centile, OFC 9-25th centile; IFAP syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000092185"	"01059"	"00116706"	"00006"	"Unknown"	"26y"	"typical IFAP, see paper ..."	""	""	""	""	""	""	""	""	""	""	""
"0000323661"	"05292"	"00433135"	"00006"	"Familial, X-linked"	"5y"	"severe combined immunodeficiency"	""	""	""	""	""	""	""	""	""	"primary immunodeficiency disease"	""
"0000352023"	"05716"	"00466659"	"00006"	"Isolated (sporadic)"	"00y11m"	"see paper; ..., normal birth, low birth weight (2,700g), small placenta, thin maternal cord; erythroderma, collodion membrane, scaling skin, facial erythema, hypohidrosis, non-cicatricial alopecia totalis, absent eyelashes, photophobia; 11m-non-specific febrile seizures, generalized hypohidrosis"	""	""	""	""	""	""	""	""	"KFSDX"	"keratosis follicularis spinulosa decalvans"	""
"0000352024"	"05716"	"00466660"	"00006"	"Familial, X-linked recessive"	"20y"	"see paper; ..., birth little hair, rough skin; 1y-no scalp hair; 20y-complete alopecia, no eyebrows, no eyelashes, dry skin, widespread follicular papules, normal teeth, no intellectual disability, no photophobia performance"	""	""	""	""	""	""	""	""	"KFSDX"	"keratosis follicularis spinulosa decalvans"	""
"0000352025"	"05716"	"00466661"	"00006"	"Unknown"	"06y"	"see paper; ..., mild photophobia; angular cheilitis, dystrophic nails, no scalp hair, no eyebrows, no eyelashes, spiky follicular hyperkeratosis predominantly on scalp and extensor surfaces extremities;normal hearing, normal vision, normal growth development, no intellectual disability"	""	""	""	""	""	""	""	""	"KFSDX"	"keratosis follicularis spinulosa decalvans"	""
"0000352026"	"03683"	"00466663"	"00006"	"Familial, X-linked recessive"	""	"see paper; ..., alopecia universalis, hyperkeratotic lesions, periorificial keratotic plaques, bilateral palmoplantar transgredient keratoderma, no hearing loss, no skeletal abnormalities, no dysmorphic features."	""	""	""	""	""	""	""	""	""	""	""
"0000352027"	"05764"	"00466664"	"00006"	"Unknown"	""	"see paper; ..., birth35w+5, weight 1570 g; 3m-universal alopecia; skin phototype II, no scalp hair, no eyebrows, no eyelashes; prominent forehead, large ears, generalized dryness skin, follicular papules/pustules on erythematous base scattered on trunk/upper and lower limbs"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP syndrome"	""
"0000352028"	"05764"	"00466665"	"00006"	"Familial, X-linked recessive"	"05y"	"see paper; ..., 5y-hair loss, roughened skin texture; birth no eyebrows, no eyelashes, normal scalp hair; photophobia; no intellectual disability"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP syndrome"	""
"0000352029"	"05716"	"00466666"	"00006"	"Familial, X-linked recessive"	"00y06m"	"see paper; ..., 6m-loss of eyebrows, roughness skin; marked loss both eyebrows, erythema, perifollicular accentuation,follicular hyperkeratosis,"	""	""	""	""	""	""	""	""	"KFSDX"	"keratosis follicularis spinulosa decalvans"	""
"0000352030"	"05764"	"00466667"	"00006"	"Familial, X-linked recessive"	"16y"	"see paper; ...,  ichthyosis, follicular, atrichia, photophobia, syndromepsoriasiform skin plaques, nail dystrophy, facial dysmorphy, mental retardation, severe skeletal abnormalities, chorea-like movements"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP syndrome"	""
"0000352031"	"00198"	"00466668"	"00006"	"Familial, X-linked recessive"	"08y"	"see paper; ..., birth 38w, weight 1,996g (-2.6 SD), height 44 cm (-2.6 SD), OFC 32.5 cm (-0.5 SD); intrauterine growth retardation, no follicular ichthyosis, atrichia, photophobia, brain malformation, mental and growth retardation, skeletal (vertebrate) anomalies, Hirschsprung disease, no eye malformation, large ears, no cleft lip/palate, cryptorchidism, kidney malformation, microcephaly, seizures, deafness, no hand anomalies, no cardiac anomalies, no inguinal hernia, trachea anomalies, regression"	""	""	""	""	""	""	""	""	"IFAP1"	"BRESHECK syndrome"	""
"0000352032"	"05764"	"00466669"	"00006"	"Familial, X-linked recessive"	"02y"	"see paper; ..., fetal intrauterine growth retardation; birth 37w; 2y-seizures, severe mental retardation, severe growth retardation"	""	""	""	""	""	""	""	""	"IFAP1"	"seizures and severe mental and growth retardation"	""
"0000352033"	"05764"	"00466670"	"00006"	"Familial, X-linked recessive"	"22y"	"see paper; ..., ichthyosis, alopecia, photophobia, short stature, inguinal hernia, palmoplantar keratoderma, periorificial keratoderma, pachyonychia"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP syndrome"	""
"0000352034"	"05764"	"00466671"	"00006"	"Familial, X-linked recessive"	"01y09m"	"see paper; ..., 34w-birth, weight 10th-25th centile, height <10th centile, no hair, eczematous scaling erythema, xerosis with spiny follicular hyperkeratosis; frequent scalp skin infection; 11m-seizures;  photosensitivity no eye anomalies; global developmental delay"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP syndrome"	""
"0000352035"	"00198"	"00466672"	"00006"	"Unknown"	"00y05m"	"see paper; ..., follicular ichthyosis, alopecia, photophobia, short stature, intellectual disability, no atopic manifestations, recurrent respiratory/cutaneous infections, no seizures, microcephaly, brain abnormalities, skeletal malformations, no cardiac defects, Hirschsprung disease, kidney malformation, no inguinal hernia, no cryptorchidism, no cleft palate, no eye anomalies, no ear anomalies"	""	""	""	""	""	""	""	""	"IFAP1"	""	""
"0000352036"	"00198"	"00466673"	"00006"	"Familial, X-linked recessive"	"<00y00m00d"	"see paper;, terminated pregnancy; 12wg-1st trimester scan  hypoplastic nasal bone; 20wg-shortening all long bones, bowing femurs/tibiae, normal ribs, normal chest circumference"	""	""	""	""	""	""	""	""	""	"bone deformities"	""
"0000352037"	"05764"	"00466674"	"00006"	"Unknown"	"01y06m"	"see paper; ..., collodion baby, congenital hypothyroidism, cutaneous signs present since birth; spiny hyperkeratotic papules on scalp, ears, cheeks, elbows, and knees; periungual erythema on hands, generalized alopecia, photophobia; facial dysmorphism, atopic dermatitis-like lesions, plantar keratoderma"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP syndrome"	""
"0000352038"	"05764"	"00466675"	"00006"	"Familial, X-linked recessive"	"15y/12y"	"see paper; ..., total non-scarring alopecia, follicular ichthyosis trunk, generalized psoriasiform plaques, developmental delay, recurrent seizures, osteoporosis,  renal insufficiency; younger brother ectrodactyly"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP/Olmsted syndrome"	""
"0000352039"	"05764"	"00466676"	"00006"	"Unknown"	"06y"	"see paper; ..., 3m-gradual loss hair/eyebrows/eyelashes; follicular papules on scalp/ears/neck, dry skin, ichthyotic scales, mild photophobia"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP syndrome"	""
"0000352040"	"05764"	"00466677"	"00006"	"Isolated (sporadic)"	"05y"	"see paper; ..., ichthyotic scaling, no hair, mild photophobia; mild xerosis, follicular hyperkeratosis"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP syndrome"	""
"0000352041"	"05764"	"00466678"	"00006"	"Familial, X-linked recessive"	"11y"	"see p`per; ..., diffuse follicular hyperkeratosis, alopecia, photophobia; 3m-no hair, no eyelashes, no eyebrows"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP syndrome"	""
"0000352052"	"04184"	"00466689"	"00006"	"Unknown"	"8y"	"see paper; ..., growth hormone  deficiency, B-cell immunity disorder, skin problems (hyperkeratosis, alopecia), corneal ulceratio; height SDS-4.48; birth weight SDS-1.06, length SDS-1.75"	""	""	""	""	""	""	""	""	""	"short stature"	""
"0000352068"	"05764"	"00466705"	"00006"	"Familial, X-linked recessive"	"12y/9y"	"see paper; ..., congenital alopecia, microcephaly, dermatitis; seizures, neurodevelopmental regression; wheelchair-bound, tube-feeding diet, nonresponsive to verbal command; superficial punctate keratopathy in central band distribution, myopia, central optic nerve head large cupping; mother retinal venous tortuosity"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP syndrome"	""
"0000352069"	"05764"	"00466706"	"00006"	"Familial, X-linked recessive"	"06y"	"see paper; ..., ichthyotic skin, Hirschsprung disease, atrial septal defects,syrinx at cervicomedullary junction; hyperkeratotic eyelids, madarosis,  lagophthalmos,otherwise clear corneas; bilateral central corneal epithelial defects; bilateral limbal thickening, peripheral corneal pannus with underlying stromal scarring, late fluorescein staining corneal surface; abnormal hyperreflective epithelial surface overlying thinned corneal stroma"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP syndrome"	""
"0000352070"	"05764"	"00466707"	"00006"	"Unknown"	"16y"	"see paper; ..., brith dry skin, localized non-progressive non-scarring alopecia; 3y-hyperkeratosis feet; pronounced keratosis Achilles tendon; plantar keratoderma with transgrediens, ungual dysplasia; keratosis pilaris trunk/arms/legs.; esotropia, amblyopia, no photophobia; normal dentition, no intellectual disability; normal eyebrows, normal eyelashes"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP syndrome"	""
"0000352071"	"05296"	"00466708"	"00006"	"Familial, X-linked recessive"	"02y"	"see paper; ..., prenatal fractures ribs/long bones; 2y-moderate short stature, blue sclerae, pectus carinatum bowing lower extremity long bones; no ichthyosis follicularis, no alopecia, no photophobia, no intellectual disability, no seizures; affected adult males fractures beginning during gestation, short stature, white sclerae, variable scoliosis, pectal deformity, striking tibial anterior angulation, generalized osteopenia"	""	""	""	""	""	""	""	""	"OI19"	"osteogenesis imperfecta"	""
"0000352072"	"05296"	"00466709"	"00006"	"Familial, X-linked recessive"	"26y"	"see paper; ..., newborn bowing humeri/radii/tibiae, fractures femora/ribs/clavicles, generalized osteopenia; childhood numerous fractures upper/lower extremity long bones; white sclerae, kyphoscoliosis, anterior vertebral wedging, short stature; no ichthyosis follicularis, no alopecia, no photophobia, no intellectual disability, no seizures"	""	""	""	""	""	""	""	""	"OI19"	"osteogenesis imperfecta"	""
"0000352073"	"05764"	"00466710"	"00006"	"Familial, X-linked recessive"	"02y"	"see paper; ..., 2y-congenital alopecia, follicular keratosis, photophobia; global developmental delay; absence seizures; diffuse non-scarring alopecia scalp/eyebrows, normal eyelashes"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP syndrome"	""
"0000352076"	"00198"	"00466713"	"00006"	"Familial, X-linked recessive"	"04y"	"see paper; ..., prenatal cystic kidneys, intrauterine growth restriction, ongenital heart disease; ichthyosis, sparse hair, pulmonic stenosis, kidney dysplasia, hypospadias, growth failure, thrombocytopenia, anemia, bone marrow fibrosis, chronic diarrhea"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP/BRESHECK"	""
"0000352192"	"05296"	"00466829"	"00006"	"Isolated (sporadic)"	""	"OI3 progressively deforming osteogenesis imperfecta"	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000352205"	"05764"	"00466842"	"00006"	"Familial, X-linked recessive"	"29y"	"see paper; ..., hair loss, painful hyperkeratotic lesions, birth sparse scalp hair; periodic high fevers caused by recurrent infections, rough skin, photophobia; palmoplantar keratoderma; 29y-no scalp hair, eyebrows, no eyelashes, dry skin, rough body skin, diffuse follicular hyperkeratosis scalp/trunk, photophobia, myopia , periorificial keratotic plaques mouth, anal palmoplantar keratoderma, nail dystrophy with pachyonychia, normal hearing, normal sweating, normal mucosa, no short stature, no seizures, no inguinal hernia"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP syndrome"	""
"0000352206"	"05764"	"00466843"	"00006"	"Familial, X-linked recessive"	"07y"	"see paper; ..., birth alopecia, persistent ichthyosis, scanty scalp hair/eyebrows, generalized dryness/roughness whole-body skin"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP syndrome"	""
"0000352207"	"05764"	"00466844"	"00006"	"Familial, X-linked recessive"	"08y"	"see paper; ..., alopecia scalp/eyebrows/eyelashes, mild generalized xerosis, photophobia, ecurrent angular cheilitis; normal developmental milestones"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP syndrome"	""
"0000352208"	"05764"	"00466845"	"00006"	"Familial, X-linked recessive"	"03y"	"see paper; ..., 35w-birth, severe intrauterine growth failure, hydrocephaly, posterior meningocele; 3y-diffuse xerosis, persistent follicular keratosis scalp, corkscrew-like hair, delayed occipital development, severe global developmental delay, inability to walk, measurements below SD weight/height/OFC, able to sit/babble/engage in positive social interactions, MRI brain dysgenesis corpus callosum"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP syndrome"	""
"0000352209"	"05764"	"00466846"	"00006"	"Familial, X-linked recessive"	"18y"	"see paper; ..., birth symmetric papules; infancy hair loss, photophobia, corneal edema, abrasion, conjunctivitis, superficial punctate keratitis; bilateral subepithelial fibrovascular tissue ingrowth cornea; 4y-sparse eyebrows/eyelashes, non-scarring alopecia"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP syndrome"	""
"0000352210"	"05764"	"00466847"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth severe cutaneous abnormality with collodion membrane, congenital ichthyosis with taut skin face, eclabium, ectropion, microcephaly, cryptorchidism, flattened rudimentary ears, no scalp hair, no eyebrows, no eyelashes., upper limb malformations, no right hand, bilateral shortening ulna with radius aplasia, fixed elbows, oligodactyly right hand with only fifth digit present, left foot with absence fourth digit"	""	""	""	""	""	""	""	""	"IFAP1"	"IFAP/BRESHECK"	""


## Screenings ## Do not remove or alter this header ##
## Count = 110
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"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"	""	""
"0000106373"	"00105902"	"1"	"02120"	"02120"	"2017-06-26 14:10:54"	""	""	"SEQ-NG-I"	"DNA"	"Fibroblasts"	""
"0000106375"	"00105905"	"1"	"02120"	"02120"	"2017-06-26 14:40:38"	""	""	"SEQ-NG-I"	"DNA"	"Fibroblasts"	""
"0000106376"	"00105906"	"1"	"02120"	"02120"	"2017-06-26 15:02:36"	"00006"	"2017-06-26 23:13:11"	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000117096"	"00116638"	"1"	"01533"	"01533"	"2012-06-06 14:19:35"	"00006"	"2017-08-08 19:34:57"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000117098"	"00116666"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	""	""	"SEQ"	"DNA"	""	""
"0000117099"	"00116667"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	""	""	"SEQ"	"DNA"	""	""
"0000117100"	"00116671"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	"01533"	"2010-01-25 19:01:19"	"SEQ"	"DNA"	""	""
"0000117101"	"00116672"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	"01533"	"2010-01-25 18:59:23"	"SEQ"	"DNA"	""	""
"0000117102"	"00116676"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	"01533"	"2009-10-31 15:32:24"	"SEQ"	"DNA"	""	""
"0000117103"	"00116681"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	""	""	"SEQ"	"DNA"	""	""
"0000117104"	"00116682"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	""	""	"SEQ"	"DNA"	""	""
"0000117105"	"00116684"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	""	""	"SEQ"	"DNA"	""	""
"0000117106"	"00116685"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	""	""	"SEQ"	"DNA"	""	""
"0000117107"	"00116686"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	""	""	"SEQ"	"DNA"	""	""
"0000117108"	"00116687"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	""	""	"SEQ"	"DNA"	""	""
"0000117109"	"00116689"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	"00006"	"2017-08-08 19:30:51"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000117110"	"00116690"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	""	""	"SEQ"	"DNA"	""	""
"0000117111"	"00116699"	"1"	"01533"	"01533"	"2009-10-31 15:58:48"	""	""	"SEQ"	"DNA"	""	""
"0000117112"	"00116700"	"1"	"01533"	"01533"	"2009-10-31 15:58:48"	""	""	"SEQ"	"DNA"	""	""
"0000117113"	"00116701"	"1"	"01533"	"01533"	"2009-10-31 15:58:48"	""	""	"SEQ"	"DNA"	""	""
"0000117114"	"00116702"	"1"	"01533"	"01533"	"2009-10-31 15:58:48"	""	""	"SEQ"	"DNA"	""	""
"0000117115"	"00116691"	"1"	"01533"	"01533"	"2010-01-25 19:09:45"	""	""	"SEQ"	"DNA"	""	""
"0000117116"	"00116694"	"1"	"01533"	"01533"	"2010-10-30 21:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000117117"	"00116695"	"1"	"01533"	"01533"	"2010-10-30 21:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000117118"	"00116696"	"1"	"01533"	"01533"	"2010-10-30 21:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000117119"	"00116692"	"1"	"01533"	"01533"	"2011-01-16 20:20:20"	"01533"	"2011-04-05 10:26:50"	"SEQ"	"DNA"	""	""
"0000117120"	"00116693"	"1"	"01533"	"01533"	"2011-01-16 20:24:15"	"01533"	"2011-04-05 10:21:41"	"SEQ"	"DNA"	""	""
"0000117121"	"00116697"	"1"	"01533"	"01533"	"2011-01-16 20:37:22"	"01533"	"2011-04-05 10:31:41"	"SEQ"	"DNA"	""	""
"0000117122"	"00116664"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	""	""	"SEQ"	"DNA"	""	""
"0000117123"	"00116665"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	""	""	"SEQ"	"DNA"	""	""
"0000117124"	"00116668"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	""	""	"SEQ"	"DNA"	""	""
"0000117125"	"00116669"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	"01533"	"2010-01-25 18:57:07"	"SEQ"	"DNA"	""	""
"0000117126"	"00116670"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	"01533"	"2009-10-31 15:32:24"	"SEQ"	"DNA"	""	""
"0000117127"	"00116674"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	"01533"	"2010-01-25 19:00:27"	"SEQ"	"DNA"	""	""
"0000117128"	"00116675"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	"01533"	"2009-10-31 15:32:24"	"SEQ"	"DNA"	""	""
"0000117129"	"00116673"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	"01533"	"2009-10-31 15:32:24"	"SEQ"	"DNA"	""	""
"0000117130"	"00116677"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	""	""	"SEQ"	"DNA"	""	""
"0000117131"	"00116678"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	""	""	"SEQ"	"DNA"	""	""
"0000117132"	"00116679"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	""	""	"SEQ"	"DNA"	""	""
"0000117133"	"00116680"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	""	""	"SEQ"	"DNA"	""	""
"0000117134"	"00116683"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	""	""	"SEQ"	"DNA"	""	""
"0000117135"	"00116688"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	""	""	"SEQ"	"DNA"	""	""
"0000117136"	"00116703"	"1"	"01533"	"01533"	"2009-08-18 09:19:58"	""	""	"SEQ"	"DNA"	""	""
"0000117137"	"00116705"	"1"	"01533"	"01533"	"2011-04-05 09:39:59"	""	""	"SEQ"	"DNA"	""	""
"0000117138"	"00116639"	"1"	"01984"	"01984"	"2012-11-27 11:39:15"	""	""	"arrayCGH;SEQ;SSCA"	"DNA"	""	""
"0000117139"	"00116640"	"1"	"01984"	"01984"	"2012-11-27 12:03:26"	""	""	"arrayCGH;SEQ;SSCA"	"DNA"	""	""
"0000117140"	"00116641"	"1"	"01984"	"01984"	"2012-11-27 12:17:37"	""	""	"SEQ"	"DNA"	""	""
"0000117141"	"00116642"	"1"	"01984"	"01984"	"2012-11-27 12:28:06"	""	""	"SEQ"	"DNA"	""	""
"0000117142"	"00116643"	"1"	"01984"	"01984"	"2012-11-26 22:25:49"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000117143"	"00116644"	"1"	"01984"	"01984"	"2012-11-26 22:31:59"	"01533"	"2013-02-06 17:28:13"	"PCR;SEQ"	"DNA"	""	""
"0000117144"	"00116645"	"1"	"01984"	"01984"	"2012-11-27 09:40:50"	"01533"	"2013-02-06 17:28:47"	"PCR;SEQ"	"DNA"	""	""
"0000117145"	"00116646"	"1"	"01984"	"01984"	"2012-11-27 09:45:44"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000117146"	"00116647"	"1"	"01984"	"01984"	"2012-11-27 10:07:17"	""	""	"PCRdig;SEQ"	"DNA"	""	""
"0000117147"	"00116648"	"1"	"01984"	"01984"	"2012-11-27 10:18:22"	""	""	"PCRdig;SEQ"	"DNA"	""	""
"0000117148"	"00116649"	"1"	"01984"	"01984"	"2012-11-27 20:48:55"	"01984"	"2012-12-14 09:21:15"	"PCRdig;SEQ"	"DNA"	""	""
"0000117149"	"00116650"	"1"	"01984"	"01984"	"2012-11-27 21:20:03"	""	""	"PCRdig;SEQ"	"DNA"	""	""
"0000117150"	"00116651"	"1"	"01984"	"01984"	"2012-11-27 21:28:57"	""	""	"PCRdig;SEQ"	"DNA"	""	""
"0000117151"	"00116704"	"1"	"01533"	"01533"	"2011-04-05 14:26:47"	""	""	"SEQ"	"DNA"	""	""
"0000117152"	"00116652"	"1"	"01984"	"01984"	"2012-11-27 20:29:18"	""	""	"SEQ;PCRdig"	"DNA"	""	""
"0000117153"	"00116653"	"1"	"01984"	"01984"	"2012-11-27 20:34:01"	""	""	"SEQ;PCRdig"	"DNA"	""	""
"0000117154"	"00116654"	"1"	"01984"	"01984"	"2012-11-27 10:27:31"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000117155"	"00116655"	"1"	"01984"	"01984"	"2012-11-27 11:20:30"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000117156"	"00116656"	"1"	"01984"	"01984"	"2012-11-27 11:27:20"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000117157"	"00116657"	"1"	"01984"	"01984"	"2012-11-27 12:36:26"	"01984"	"2012-12-14 09:44:25"	"PCR;SEQ"	"DNA"	""	""
"0000117158"	"00116658"	"1"	"01984"	"01984"	"2012-11-27 11:47:20"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000117159"	"00116659"	"1"	"01984"	"01984"	"2012-11-27 11:56:31"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000117160"	"00116660"	"1"	"01984"	"01984"	"2012-11-27 12:43:13"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000117161"	"00116661"	"1"	"01984"	"01984"	"2012-11-27 12:48:42"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000117164"	"00116662"	"1"	"01984"	"01984"	"2012-11-27 21:08:05"	""	""	"PCRdig;RT-PCR;SEQ;MCA;SEQ"	"DNA;RNA"	""	""
"0000117165"	"00116663"	"1"	"01984"	"01984"	"2012-11-27 20:58:34"	""	""	"PCRdig;SEQ"	"DNA"	""	""
"0000117166"	"00116706"	"1"	"00006"	"00006"	"2017-08-08 19:41:05"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000296181"	"00295013"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000388177"	"00386950"	"1"	"03897"	"03897"	"2021-10-28 09:14:25"	"03897"	"2021-10-28 09:25:49"	"SEQ-NG-I"	"DNA"	"blood"	"UA-01-2021"
"0000434566"	"00433135"	"1"	"00006"	"00006"	"2023-02-28 15:41:53"	""	""	"SEQ-NG"	"DNA"	""	""
"0000468323"	"00466659"	"1"	"00006"	"00006"	"2025-09-19 10:26:49"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468324"	"00466660"	"1"	"00006"	"00006"	"2025-09-19 10:36:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000468325"	"00466661"	"1"	"00006"	"00006"	"2025-09-19 13:27:28"	""	""	"SEQ"	"DNA"	""	""
"0000468327"	"00466663"	"1"	"00006"	"00006"	"2025-09-22 12:35:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468328"	"00466664"	"1"	"00006"	"00006"	"2025-09-22 12:47:52"	""	""	"SEQ"	"DNA"	""	""
"0000468329"	"00466665"	"1"	"00006"	"00006"	"2025-09-22 13:35:11"	""	""	"SEQ"	"DNA"	""	""
"0000468330"	"00466666"	"1"	"00006"	"00006"	"2025-09-22 13:47:39"	""	""	"SEQ"	"DNA"	""	""
"0000468331"	"00466667"	"1"	"00006"	"00006"	"2025-09-22 13:55:25"	""	""	"SEQ"	"DNA"	""	""
"0000468332"	"00466668"	"1"	"00006"	"00006"	"2025-09-22 14:09:31"	""	""	"SEQ"	"DNA"	""	""
"0000468333"	"00466669"	"1"	"00006"	"00006"	"2025-09-22 14:15:48"	""	""	"SEQ"	"DNA"	""	""
"0000468334"	"00466670"	"1"	"00006"	"00006"	"2025-09-22 14:22:35"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468335"	"00466671"	"1"	"00006"	"00006"	"2025-09-22 14:31:16"	""	""	"SEQ"	"DNA"	""	""
"0000468336"	"00466672"	"1"	"00006"	"00006"	"2025-09-22 14:48:23"	""	""	"SEQ"	"DNA"	""	""
"0000468337"	"00466673"	"1"	"00006"	"00006"	"2025-09-22 15:19:42"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000468338"	"00466674"	"1"	"00006"	"00006"	"2025-09-22 19:21:41"	""	""	"SEQ"	"DNA"	""	""
"0000468339"	"00466675"	"1"	"00006"	"00006"	"2025-09-22 19:29:06"	""	""	"SEQ"	"DNA"	""	""
"0000468340"	"00466676"	"1"	"00006"	"00006"	"2025-09-22 19:35:59"	""	""	"SEQ"	"DNA"	""	""
"0000468341"	"00466677"	"1"	"00006"	"00006"	"2025-09-22 19:45:43"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000468342"	"00466678"	"1"	"00006"	"00006"	"2025-09-22 19:52:14"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468353"	"00466689"	"1"	"00006"	"00006"	"2025-09-23 14:50:33"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468369"	"00466705"	"1"	"00006"	"00006"	"2025-09-23 15:01:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000468370"	"00466706"	"1"	"00006"	"00006"	"2025-09-23 15:11:23"	""	""	"SEQ"	"DNA"	""	""
"0000468371"	"00466707"	"1"	"00006"	"00006"	"2025-09-23 15:21:13"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468372"	"00466708"	"1"	"00006"	"00006"	"2025-09-23 18:41:41"	""	""	"SEQ"	"DNA"	""	""
"0000468373"	"00466709"	"1"	"00006"	"00006"	"2025-09-23 18:48:35"	""	""	"SEQ"	"DNA"	""	""
"0000468374"	"00466710"	"1"	"00006"	"00006"	"2025-09-23 18:55:55"	""	""	"SEQ"	"DNA"	""	""
"0000468377"	"00466713"	"1"	"00006"	"00006"	"2025-09-23 19:19:43"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000468493"	"00466829"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468506"	"00466842"	"1"	"00006"	"00006"	"2025-09-24 08:45:40"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000468507"	"00466843"	"1"	"00006"	"00006"	"2025-09-24 08:59:07"	""	""	"SEQ"	"DNA"	""	""
"0000468508"	"00466844"	"1"	"00006"	"00006"	"2025-09-24 09:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000468509"	"00466845"	"1"	"00006"	"00006"	"2025-09-24 09:19:11"	""	""	"SEQ"	"DNA"	""	""
"0000468510"	"00466846"	"1"	"00006"	"00006"	"2025-09-24 09:24:09"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000468511"	"00466847"	"1"	"00006"	"00006"	"2025-09-24 09:33:08"	""	""	"SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 93
"{{screeningid}}"	"{{geneid}}"
"0000106373"	"MBTPS2"
"0000106375"	"MBTPS2"
"0000106376"	"MBTPS2"
"0000117096"	"MBTPS2"
"0000117098"	"MBTPS2"
"0000117099"	"MBTPS2"
"0000117100"	"MBTPS2"
"0000117101"	"MBTPS2"
"0000117102"	"MBTPS2"
"0000117103"	"MBTPS2"
"0000117104"	"MBTPS2"
"0000117105"	"MBTPS2"
"0000117106"	"MBTPS2"
"0000117107"	"MBTPS2"
"0000117108"	"MBTPS2"
"0000117109"	"MBTPS2"
"0000117110"	"MBTPS2"
"0000117111"	"MBTPS2"
"0000117112"	"MBTPS2"
"0000117113"	"MBTPS2"
"0000117114"	"MBTPS2"
"0000117115"	"MBTPS2"
"0000117116"	"MBTPS2"
"0000117117"	"MBTPS2"
"0000117118"	"MBTPS2"
"0000117119"	"MBTPS2"
"0000117120"	"MBTPS2"
"0000117121"	"MBTPS2"
"0000117122"	"MBTPS2"
"0000117123"	"MBTPS2"
"0000117124"	"MBTPS2"
"0000117125"	"MBTPS2"
"0000117126"	"MBTPS2"
"0000117127"	"MBTPS2"
"0000117128"	"MBTPS2"
"0000117129"	"MBTPS2"
"0000117130"	"MBTPS2"
"0000117131"	"MBTPS2"
"0000117132"	"MBTPS2"
"0000117133"	"MBTPS2"
"0000117134"	"MBTPS2"
"0000117135"	"MBTPS2"
"0000117136"	"MBTPS2"
"0000117137"	"MBTPS2"
"0000117138"	"MBTPS2"
"0000117139"	"MBTPS2"
"0000117140"	"MBTPS2"
"0000117141"	"MBTPS2"
"0000117142"	"MBTPS2"
"0000117143"	"MBTPS2"
"0000117144"	"MBTPS2"
"0000117145"	"MBTPS2"
"0000117146"	"MBTPS2"
"0000117147"	"MBTPS2"
"0000117148"	"MBTPS2"
"0000117149"	"MBTPS2"
"0000117150"	"MBTPS2"
"0000117151"	"MBTPS2"
"0000117152"	"MBTPS2"
"0000117153"	"MBTPS2"
"0000117154"	"MBTPS2"
"0000117155"	"MBTPS2"
"0000117156"	"MBTPS2"
"0000117157"	"MBTPS2"
"0000117158"	"MBTPS2"
"0000117159"	"MBTPS2"
"0000117160"	"MBTPS2"
"0000117161"	"MBTPS2"
"0000117164"	"MBTPS2"
"0000117165"	"MBTPS2"
"0000117166"	"MBTPS2"
"0000468324"	"MBTPS2"
"0000468325"	"MBTPS2"
"0000468328"	"MBTPS2"
"0000468329"	"MBTPS2"
"0000468330"	"MBTPS2"
"0000468331"	"MBTPS2"
"0000468332"	"MBTPS2"
"0000468333"	"MBTPS2"
"0000468335"	"MBTPS2"
"0000468336"	"MBTPS2"
"0000468338"	"MBTPS2"
"0000468339"	"MBTPS2"
"0000468340"	"MBTPS2"
"0000468369"	"MBTPS2"
"0000468370"	"MBTPS2"
"0000468372"	"MBTPS2"
"0000468373"	"MBTPS2"
"0000468374"	"MBTPS2"
"0000468506"	"MBTPS2"
"0000468507"	"MBTPS2"
"0000468508"	"MBTPS2"
"0000468509"	"MBTPS2"


## 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 = 202
"{{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}}"
"0000002840"	"20"	"50"	"X"	"21875821"	"21875821"	"del"	"0"	"00037"	"MBTPS2_000049"	"g.21875821del"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.21857703del"	""	"VUS"	""
"0000006467"	"20"	"50"	"X"	"21861434"	"21861434"	"subst"	"0.428277"	"00037"	"MBTPS2_000005"	"g.21861434A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.21843316A>G"	""	"VUS"	""
"0000006468"	"20"	"50"	"X"	"21869983"	"21869983"	"subst"	"0"	"00037"	"MBTPS2_000012"	"g.21869983A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.21851865A>G"	""	"VUS"	""
"0000006469"	"20"	"50"	"X"	"21874387"	"21874387"	"subst"	"0"	"00037"	"MBTPS2_000039"	"g.21874387T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.21856269T>C"	""	"VUS"	""
"0000006470"	"20"	"50"	"X"	"21889105"	"21889105"	"subst"	"0"	"00037"	"MBTPS2_000043"	"g.21889105C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.21870987C>T"	""	"VUS"	""
"0000006471"	"20"	"50"	"X"	"21901903"	"21901903"	"subst"	"0"	"00037"	"MBTPS2_000017"	"g.21901903G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.21883785G>A"	""	"VUS"	""
"0000008518"	"20"	"50"	"X"	"21861434"	"21861434"	"subst"	"0.428277"	"00037"	"MBTPS2_000005"	"g.21861434A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.21843316A>G"	""	"VUS"	""
"0000008519"	"20"	"50"	"X"	"21874387"	"21874387"	"subst"	"0"	"00037"	"MBTPS2_000039"	"g.21874387T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.21856269T>C"	""	"VUS"	""
"0000008520"	"20"	"50"	"X"	"21889105"	"21889105"	"subst"	"0"	"00037"	"MBTPS2_000043"	"g.21889105C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.21870987C>T"	""	"VUS"	""
"0000008521"	"20"	"50"	"X"	"21901903"	"21901903"	"subst"	"0"	"00037"	"MBTPS2_000017"	"g.21901903G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.21883785G>A"	""	"VUS"	""
"0000010840"	"20"	"50"	"X"	"21875821"	"21875821"	"del"	"0"	"00037"	"MBTPS2_000049"	"g.21875821del"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.21857703del"	""	"VUS"	""
"0000014423"	"20"	"50"	"X"	"21860960"	"21860960"	"subst"	"0"	"00037"	"MBTPS2_000003"	"g.21860960G>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.21842842G>C"	""	"VUS"	""
"0000014425"	"20"	"50"	"X"	"21869983"	"21869983"	"subst"	"0"	"00037"	"MBTPS2_000012"	"g.21869983A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.21851865A>G"	""	"VUS"	""
"0000014427"	"20"	"50"	"X"	"21876112"	"21876112"	"subst"	"0"	"00037"	"MBTPS2_000042"	"g.21876112A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.21857994A>G"	""	"VUS"	""
"0000171970"	"21"	"90"	"X"	"21900728"	"21900728"	"subst"	"0"	"02120"	"MBTPS2_000041"	"g.21900728G>C"	""	"{PMID:Lindert 2016:27380894}, {DOI:Lindert 2016:10.1038/ncomms11920}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.21882610G>C"	""	"pathogenic"	""
"0000171971"	"21"	"90"	"X"	"21900728"	"21900728"	"subst"	"0"	"02120"	"MBTPS2_000041"	"g.21900728G>C"	""	"{PMID:Lindert 2016:27380894}, {DOI:Lindert 2016:10.1038/ncomms11920}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.21882610G>C"	""	"pathogenic"	""
"0000171975"	"21"	"90"	"X"	"21900589"	"21900589"	"subst"	"0"	"02120"	"MBTPS2_000040"	"g.21900589A>G"	""	"{PMID:Lindert 2016:27380894}, {DOI:Lindert 2016:10.1038/ncomms11920}"	""	""	"variant not in 644 control chromosomes; skewed inactivation in female carriers"	"Germline"	"yes"	""	"0"	""	""	"g.21882471A>G"	""	"pathogenic"	""
"0000187827"	"0"	"90"	"X"	"21886576"	"21886576"	"subst"	"0"	"01533"	"MBTPS2_000028"	"g.21886576T>G"	""	"{PMID:Oeffner 2011:21426410}"	""	""	"patient RNA analysis and minigene construct"	"Germline"	""	""	"0"	""	""	"g.21868458T>G"	""	"pathogenic"	""
"0000187828"	"20"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"01533"	"MBTPS2_000019"	"g.21899039G>A"	""	"{PMID:Oeffner 2009:19361614}"	"TaiI"	""	"not in 225 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.21880921G>A"	""	"pathogenic"	""
"0000187829"	"20"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"01533"	"MBTPS2_000019"	"g.21899039G>A"	""	"{PMID:Oeffner 2009:19361614}"	"TaiI"	""	"not in 225 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.21880921G>A"	""	"pathogenic"	""
"0000187830"	"21"	"90"	"X"	"21886591"	"21886591"	"subst"	"0"	"01533"	"MBTPS2_000020"	"g.21886591G>T"	""	"{PMID:Oeffner 2009:19361614}"	"BstXI"	"c.677T"	"not in 225 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.21868473G>T"	""	"pathogenic"	""
"0000187831"	"20"	"90"	"X"	"21900637"	"21900637"	"subst"	"0"	"01533"	"MBTPS2_000021"	"g.21900637T>C"	""	"{PMID:Oeffner 2009:19361614}"	"Eco130L"	"c.1424C"	"not in 225 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.21882519T>C"	""	"pathogenic"	""
"0000187832"	"21"	"90"	"X"	"21863313"	"21863313"	"subst"	"0"	"01533"	"MBTPS2_000022"	"g.21863283T>A"	""	"{PMID:Oeffner 2009:19361614}, {PMID:Oeffner 2011:21426410}"	""	"c.225-6A"	"not in 225 control chromosomes; splicing studied using minigene construct"	"Germline"	""	""	"0"	""	""	"g.21845165T>A"	""	"pathogenic"	""
"0000187833"	"21"	"90"	"X"	"21863313"	"21863313"	"subst"	"0"	"01533"	"MBTPS2_000022"	"g.21863283T>A"	""	"{PMID:Oeffner 2009:19361614}"	""	"c.225-6A"	"not in 225 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.21845165T>A"	""	"pathogenic"	""
"0000187834"	"20"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"01533"	"MBTPS2_000019"	"g.21899039G>A"	""	"Schwartz 2009, Workshop Fragile-X and XLMR, A96"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.21880921G>A"	""	"pathogenic"	""
"0000187835"	"20"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"01533"	"MBTPS2_000019"	"g.21899039G>A"	""	"Schwartz 2009, Workshop Fragile-X and XLMR, A96"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.21880921G>A"	""	"pathogenic"	""
"0000187836"	"20"	"90"	"X"	"21900681"	"21900681"	"subst"	"0"	"01533"	"MBTPS2_000023"	"g.21900681A>G"	""	"Schwartz 2009, Workshop Fragile-X and XLMR, A96"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.21882563A>G"	""	"pathogenic"	""
"0000187837"	"20"	"90"	"X"	"21900712"	"21900712"	"subst"	"0"	"01533"	"MBTPS2_000024"	"g.21900712G>A"	""	"Schwartz 2009, Workshop Fragile-X and XLMR, A96"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.21882594G>A"	""	"pathogenic"	""
"0000187854"	"20"	"90"	"X"	"21863325"	"21863325"	"subst"	"0"	"01533"	"MBTPS2_000018"	"g.21863325G>A"	""	"{PMID:Ming 2009:19689518}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.21845207G>A"	""	"pathogenic"	""
"0000187855"	"21"	"90"	"X"	"21900736"	"21900736"	"subst"	"0"	"01533"	"MBTPS2_000025"	"g.21900736A>G"	""	"{PMID:Aten 2010:20672378}"	""	""	"linkage analysis; not in 86 control chromosomes; normal protein staining"	"Unknown"	""	""	"0"	""	""	"g.21882618A>G"	""	"pathogenic"	""
"0000187856"	"21"	"90"	"X"	"21900736"	"21900736"	"subst"	"0"	"01533"	"MBTPS2_000025"	"g.21900736A>G"	""	"{PMID:Aten 2010:20672378}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.21882618A>G"	""	"pathogenic"	""
"0000187857"	"21"	"90"	"X"	"21900736"	"21900736"	"subst"	"0"	"01533"	"MBTPS2_000025"	"g.21900736A>G"	""	"{PMID:Aten 2010:20672378}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.21882618A>G"	""	"pathogenic"	""
"0000187858"	"21"	"90"	"X"	"21900736"	"21900736"	"subst"	"0"	"01533"	"MBTPS2_000025"	"g.21900736A>G"	""	"{PMID:Ding 2010:20854407}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.21882618A>G"	""	"pathogenic"	""
"0000187859"	"21"	"90"	"X"	"21900736"	"21900736"	"subst"	"0"	"01533"	"MBTPS2_000025"	"g.21900736A>G"	""	"{PMID:Ding 2010:20854407}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.21882618A>G"	""	"pathogenic"	""
"0000187860"	"0"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"01533"	"MBTPS2_000019"	"g.21899039G>A"	""	"{PMID:Nakayama 2011:21179107}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.21880921G>A"	""	"pathogenic"	""
"0000187861"	"2"	"90"	"X"	"21886594"	"21886594"	"subst"	"0"	"01533"	"MBTPS2_000001"	"g.21886594A>T"	""	"{PMID:Oeffner 2009:19361614}"	""	"c.680T/WT"	"not in 225 control chromosomes; mapped using linkage"	"Germline"	""	""	"0"	""	""	"g.21868476A>T"	""	"pathogenic"	""
"0000187862"	"21"	"90"	"X"	"21886594"	"21886594"	"subst"	"0"	"01533"	"MBTPS2_000001"	"g.21886594A>T"	""	"{PMID:Oeffner 2009:19361614}"	""	"c.680T/WT"	"not in 225 control chromosomes; mapped using linkage"	"Germline"	""	""	"0"	""	""	"g.21868476A>T"	""	"pathogenic"	""
"0000187863"	"21"	"90"	"X"	"21886594"	"21886594"	"subst"	"0"	"01533"	"MBTPS2_000001"	"g.21886594A>T"	""	"{PMID:Oeffner 2009:19361614}"	""	"c.680T/WT"	"not in 225 control chromosomes; mapped using linkage"	"Germline"	""	""	"0"	""	""	"g.21868476A>T"	""	"pathogenic"	""
"0000187864"	"20"	"90"	"X"	"21886594"	"21886594"	"subst"	"0"	"01533"	"MBTPS2_000001"	"g.21886594A>T"	""	"{PMID:Oeffner 2009:19361614}"	""	""	"not in 225 control chromosomes; mapped using linkage"	"Germline"	""	""	"0"	""	""	"g.21868476A>T"	""	"pathogenic"	""
"0000187865"	"2"	"90"	"X"	"21863325"	"21863325"	"subst"	"0"	"01533"	"MBTPS2_000018"	"g.21863325G>A"	""	"{PMID:Oeffner 2009:19361614}"	""	"c.261A/WT"	"not in 225 control chromosomes; mapped using linkage"	"Germline"	""	""	"0"	""	""	"g.21845207G>A"	""	"pathogenic"	""
"0000187866"	"21"	"90"	"X"	"21863325"	"21863325"	"subst"	"0"	"01533"	"MBTPS2_000018"	"g.21863325G>A"	""	"{PMID:Oeffner 2009:19361614}"	""	"c.261A/WT"	"not in 225 control chromosomes; mapped using linkage"	"Germline"	""	""	"0"	""	""	"g.21845207G>A"	""	"pathogenic"	""
"0000187867"	"21"	"90"	"X"	"21863325"	"21863325"	"subst"	"0"	"01533"	"MBTPS2_000018"	"g.21863325G>A"	""	"{PMID:Oeffner 2009:19361614}"	""	"c.261A/WT"	"not in 225 control chromosomes; mapped using linkage"	"Germline"	""	""	"0"	""	""	"g.21845207G>A"	""	"pathogenic"	""
"0000187868"	"21"	"90"	"X"	"21863325"	"21863325"	"subst"	"0"	"01533"	"MBTPS2_000018"	"g.21863325G>A"	""	"{PMID:Oeffner 2009:19361614}"	""	"c.261A/WT"	"not in 225 control chromosomes; mapped using linkage"	"Germline"	""	""	"0"	""	""	"g.21845207G>A"	""	"pathogenic"	""
"0000187869"	"21"	"90"	"X"	"21863325"	"21863325"	"subst"	"0"	"01533"	"MBTPS2_000018"	"g.21863325G>A"	""	"{PMID:Oeffner 2009:19361614}"	""	"c.261A/WT"	"not in 225 control chromosomes; mapped using linkage"	"Germline"	""	""	"0"	""	""	"g.21845207G>A"	""	"pathogenic"	""
"0000187870"	"2"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"01533"	"MBTPS2_000019"	"g.21899039G>A"	""	"{PMID:Oeffner 2009:19361614}"	"TaiI"	"c.1286A/WT"	"not in 225 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.21880921G>A"	""	"pathogenic"	""
"0000187871"	"21"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"01533"	"MBTPS2_000019"	"g.21899039G>A"	""	"{PMID:Oeffner 2009:19361614}"	"TaiI"	"c.1286A/WT"	"not in 225 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.21880921G>A"	""	"pathogenic"	""
"0000187872"	"21"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"01533"	"MBTPS2_000019"	"g.21899039G>A"	""	"{PMID:Oeffner 2009:19361614}"	"TaiI"	"c.1286A/WT"	"not in 225 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.21880921G>A"	""	"pathogenic"	""
"0000187873"	"21"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"01533"	"MBTPS2_000019"	"g.21899039G>A"	""	"{PMID:Oeffner 2009:19361614}"	"TaiI"	"c.1286A/WT"	"not in 225 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.21880921G>A"	""	"pathogenic"	""
"0000187874"	"21"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"01533"	"MBTPS2_000019"	"g.21899039G>A"	""	"{PMID:Oeffner 2009:19361614}"	"TaiI"	"c.1286A/WT"	"not in 225 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.21880921G>A"	""	"pathogenic"	""
"0000187875"	"21"	"90"	"X"	"21886594"	"21886594"	"subst"	"0"	"01533"	"MBTPS2_000001"	"g.21886594A>T"	""	"{PMID:Oeffner 2009:19361614}"	""	"c.680T"	"not in 225 control chromosomes; mapped using linkage"	"Germline"	""	""	"0"	""	""	"g.21868476A>T"	""	"pathogenic"	""
"0000187876"	"20"	"90"	"X"	"21863313"	"21863313"	"subst"	"0"	"01533"	"MBTPS2_000022"	"g.21863283T>A"	""	"{PMID:Oeffner 2009:19361614}"	""	"c.225-6A/WT"	"not in 225 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.21845165T>A"	""	"pathogenic"	""
"0000187877"	"0"	"70"	"X"	"21861434"	"21861434"	"subst"	"0.428277"	"01533"	"MBTPS2_000005"	"g.21861434A>G"	""	"{PMID:Lu 2008:18660489}"	""	""	"association with plasma HDLC levels (women)"	"Unknown"	""	""	"0"	""	""	"g.21843316A>G"	""	"likely pathogenic"	""
"0000187878"	"21"	"99"	"X"	"21900646"	"21900646"	"subst"	"0"	"01533"	"MBTPS2_000026"	"g.21900646C>A"	""	"{PMID:Tang 2011:21315478}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.21882528C>A"	""	"pathogenic"	""
"0000187879"	"0"	"10"	"X"	"21861434"	"21861434"	"subst"	"0.428277"	"01533"	"MBTPS2_000005"	"g.21861434A>G"	""	""	""	""	""	"Unknown"	""	"rs3213451"	"0"	""	""	"g.21843316A>G"	""	"benign"	""
"0000187880"	"20"	"70"	"X"	"21863325"	"21863325"	"subst"	"0"	"01984"	"MBTPS2_000018"	"g.21863325G>A"	""	"{PMID:Oeffner 2009:19361614}; {PMID:Bornholdt 2013:23316014}"	""	""	"not in 225 control chromosomes; mapped using linkage; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness"	"Germline"	""	""	"0"	""	""	"g.21845207G>A"	""	"likely pathogenic"	""
"0000187881"	"20"	"70"	"X"	"21863325"	"21863325"	"subst"	"0"	"01984"	"MBTPS2_000018"	"g.21863325G>A"	""	"{PMID:Oeffner 2009:19361614}; {PMID:Bornholdt 2013:23316014}"	""	""	"not in 225 control chromosomes; mapped using linkage; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness"	"Germline"	""	""	"0"	""	""	"g.21845207G>A"	""	"likely pathogenic"	""
"0000187882"	"0"	"70"	"X"	"21863325"	"21863325"	"subst"	"0"	"01984"	"MBTPS2_000018"	"g.21863325G>A"	""	"{PMID:Oeffner 2009:19361614}; {PMID:Bornholdt 2013:23316014}"	""	""	"Genotype not analyzed in this patient; not in 225 control chromosomes; previously mapped using linkage in other family;cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness"	"Germline"	""	""	"0"	""	""	"g.21845207G>A"	""	"likely pathogenic"	""
"0000187883"	"0"	"70"	"X"	"21863325"	"21863325"	"subst"	"0"	"01984"	"MBTPS2_000018"	"g.21863325G>A"	""	"{PMID:Oeffner 2009:19361614}; {PMID:Bornholdt 2013:23316014}"	""	""	"Genotype not analyzed in this patient; not in 225 control chromosomes; previously mapped using linkage in other family;cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness"	"Germline"	""	""	"0"	""	""	"g.21845207G>A"	""	"likely pathogenic"	""
"0000187884"	"21"	"90"	"X"	"21863325"	"21863325"	"subst"	"0"	"01533"	"MBTPS2_000018"	"g.21863325G>A"	""	"{PMID:Oeffner 2009:19361614}"	""	"c.261A"	"not in 225 control chromosomes; mapped using linkage"	"Germline"	""	""	"0"	""	""	"g.21845207G>A"	""	"pathogenic"	""
"0000187885"	"20"	"70"	"X"	"21886600"	"21886600"	"subst"	"0"	"01984"	"MBTPS2_000029"	"g.21886600T>C"	""	"{PMID:Bornholdt 2013:23316014}"	""	""	"Variant absent from 160 control X-chromosomes."	"Germline"	""	""	"0"	""	""	"g.21868482T>C"	""	"likely pathogenic"	""
"0000187886"	"0"	"70"	"X"	"21886600"	"21886600"	"subst"	"0"	"01984"	"MBTPS2_000029"	"g.21886600T>C"	""	"{PMID:Bornholdt 2013:23316014}"	""	""	"Variant absent from 160 control X-chromosomes."	"Germline"	""	""	"0"	""	""	"g.21868482T>C"	""	"likely pathogenic"	""
"0000187887"	"0"	"70"	"X"	"21886600"	"21886600"	"subst"	"0"	"01984"	"MBTPS2_000029"	"g.21886600T>C"	""	"{PMID:Bornholdt 2013:23316014}"	""	""	"Variant absent from 160 control X-chromosomes."	"Germline"	""	""	"0"	""	""	"g.21868482T>C"	""	"likely pathogenic"	""
"0000187888"	"20"	"70"	"X"	"21886600"	"21886600"	"subst"	"0"	"01984"	"MBTPS2_000029"	"g.21886600T>C"	""	"{PMID:Bornholdt 2013:23316014}"	""	""	"Variant absent from 160 control X-chromosomes."	"Germline"	""	""	"0"	""	""	"g.21868482T>C"	""	"likely pathogenic"	""
"0000187889"	"21"	"90"	"X"	"21863325"	"21863325"	"subst"	"0"	"01533"	"MBTPS2_000018"	"g.21863325G>A"	""	"{PMID:Oeffner 2009:19361614}"	""	"c.261A"	"not in 225 control chromosomes; mapped using linkage"	"Germline"	""	""	"0"	""	""	"g.21845207G>A"	""	"pathogenic"	""
"0000187890"	"0"	"70"	"X"	"21886672"	"21886672"	"subst"	"0"	"01984"	"MBTPS2_000030"	"g.21886672G>C"	""	"{PMID:Bornholdt 2013:23316014}"	""	""	"Variant absent from 160 control X-chromosomes; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness"	"Germline"	""	""	"0"	""	""	"g.21868554G>C"	""	"likely pathogenic"	""
"0000187891"	"0"	"70"	"X"	"21886672"	"21886672"	"subst"	"0"	"01984"	"MBTPS2_000030"	"g.21886672G>C"	""	"{PMID:Bornholdt 2013:23316014}"	"PstI"	""	"Variant absent from 160 control X-chromosomes; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness"	"Germline"	""	""	"0"	""	""	"g.21868554G>C"	""	"likely pathogenic"	""
"0000187892"	"0"	"50"	"X"	"21886688"	"21886688"	"subst"	"0"	"01984"	"MBTPS2_000033"	"g.21886688C>G"	""	"{PMID:Bornholdt 2013:23316014}"	"PagI"	""	"Variant absent from 160 control X-chromosomes."	"Unknown"	""	""	"0"	""	""	"g.21868570C>G"	""	"VUS"	""
"0000187893"	"20"	"70"	"X"	"21899039"	"21899039"	"subst"	"0"	"01984"	"MBTPS2_000019"	"g.21899039G>A"	""	"{PMID:Oeffner 2009:19361614}; {PMID:Bornholdt 2013:23316014}"	"TaiI"	""	"not in 225 control chromosomes; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness."	"Germline"	""	""	"0"	""	""	"g.21880921G>A"	""	"likely pathogenic"	""
"0000187894"	"0"	"70"	"X"	"21899039"	"21899039"	"subst"	"0"	"01984"	"MBTPS2_000019"	"g.21899039G>A"	""	"{PMID:Oeffner 2009:19361614}; {PMID:Bornholdt 2013:23316014}"	"TaiI"	""	"not in 225 control chromosomes; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness."	"Germline"	""	""	"0"	""	""	"g.21880921G>A"	""	"likely pathogenic"	""
"0000187895"	"0"	"70"	"X"	"21900601"	"21900601"	"subst"	"0"	"01533"	"MBTPS2_000027"	"g.21900601G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.21882483G>T"	""	"likely pathogenic"	""
"0000187896"	"21"	"90"	"X"	"21863325"	"21863325"	"subst"	"0"	"01533"	"MBTPS2_000018"	"g.21863325G>A"	""	"{PMID:Oeffner 2009:19361614}"	""	"c.261A"	"not in 225 control chromosomes; mapped using linkage"	"Germline"	""	""	"0"	""	""	"g.21845207G>A"	""	"pathogenic"	""
"0000187897"	"0"	"70"	"X"	"21900637"	"21900637"	"subst"	"0"	"01984"	"MBTPS2_000021"	"g.21900637T>C"	""	"{PMID:Oeffner 2009:19361614}; {PMID:Bornholdt 2013:23316014}"	"Eco130i"	""	"not in 225 control chromosomes; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness."	"Germline"	""	""	"0"	""	""	"g.21882519T>C"	""	"likely pathogenic"	""
"0000187898"	"0"	"70"	"X"	"21900637"	"21900637"	"subst"	"0"	"01984"	"MBTPS2_000021"	"g.21900637T>C"	""	"{PMID:Oeffner 2009:19361614}; {PMID:Bornholdt 2013:23316014}"	"Eco130i"	""	"not in 225 control chromosomes; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness."	"Germline"	""	""	"0"	""	""	"g.21882519T>C"	""	"likely pathogenic"	""
"0000187899"	"0"	"70"	"X"	"21900640"	"21900640"	"subst"	"0"	"01984"	"MBTPS2_000031"	"g.21900640T>C"	""	"{PMID:Bornholdt 2013:23316014}"	""	""	"Variant absent from 160 control X-chromosomes; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness"	"Germline"	""	""	"0"	""	""	"g.21882522T>C"	""	"likely pathogenic"	""
"0000187900"	"0"	"70"	"X"	"21900640"	"21900640"	"subst"	"0"	"01984"	"MBTPS2_000031"	"g.21900640T>C"	""	"{PMID:Bornholdt 2013:23316014}"	""	""	"Variant absent from 160 control X-chromosomes; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness"	"Unknown"	""	""	"0"	""	""	"g.21882522T>C"	""	"likely pathogenic"	""
"0000187901"	"20"	"70"	"X"	"21900640"	"21900640"	"subst"	"0"	"01984"	"MBTPS2_000031"	"g.21900640T>C"	""	"{PMID:Bornholdt 2013:23316014}"	""	""	"Variant absent from 160 control X-chromosomes; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness"	"Germline"	""	""	"0"	""	""	"g.21882522T>C"	""	"likely pathogenic"	""
"0000187902"	"0"	"70"	"X"	"21900643"	"21900643"	"subst"	"0"	"01984"	"MBTPS2_000032"	"g.21900643A>T"	""	"{PMID:Bornholdt 2013:23316014}"	""	""	"Variant absent from 160 control X-chromosomes; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness"	"Unknown"	""	""	"0"	""	""	"g.21882525A>T"	""	"likely pathogenic"	""
"0000187903"	"0"	"70"	"X"	"21900712"	"21900712"	"subst"	"0"	"01984"	"MBTPS2_000024"	"g.21900712G>A"	""	"{PMID:Bornholdt 2013:23316014}"	""	""	"Variant absent from 160 control X-chromosomes; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness"	"Germline"	""	""	"0"	""	""	"g.21882594G>A"	""	"likely pathogenic"	""
"0000187904"	"0"	"70"	"X"	"21900712"	"21900712"	"subst"	"0"	"01984"	"MBTPS2_000024"	"g.21900712G>A"	""	"{PMID:Bornholdt 2013:23316014}"	""	""	"Variant absent from 160 control X-chromosomes; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness"	"Germline"	""	""	"0"	""	""	"g.21882594G>A"	""	"likely pathogenic"	""
"0000187905"	"20"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"01533"	"MBTPS2_000019"	"g.21899039G>A"	""	"{PMID:Oeffner 2009:19361614}"	"TaiI"	""	"not in 225 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.21880921G>A"	""	"pathogenic"	""
"0000187906"	"20"	"70"	"X"	"21900712"	"21900712"	"subst"	"0"	"01984"	"MBTPS2_000024"	"g.21900712G>A"	""	"{PMID:Bornholdt 2013:23316014}"	""	""	"Variant absent from 160 control X-chromosomes; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness"	"Germline"	""	""	"0"	""	""	"g.21882594G>A"	""	"likely pathogenic"	""
"0000187907"	"0"	"70"	"X"	"21900712"	"21900712"	"subst"	"0"	"01984"	"MBTPS2_000024"	"g.21900712G>A"	""	"{PMID:Bornholdt 2013:23316014}"	""	""	"Variant absent from 160 control X-chromosomes; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness"	"Unknown"	""	""	"0"	""	""	"g.21882594G>A"	""	"likely pathogenic"	""
"0000187908"	"0"	"70"	"X"	"21900736"	"21900736"	"subst"	"0"	"01984"	"MBTPS2_000025"	"g.21900736A>G"	""	"{PMID:Aten 2010:20672378}; {PMID:Bornholdt 2013:23316014}"	"BsrI"	""	"linkage analysis; not in 86 control chromosomes; normal protein staining: not in additional 160 control X-chromosomes; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness."	"Unknown"	""	""	"0"	""	""	"g.21882618A>G"	""	"likely pathogenic"	""
"0000187909"	"0"	"70"	"X"	"21900751"	"21900751"	"subst"	"0"	"01984"	"MBTPS2_000034"	"g.21900751T>C"	""	"{PMID:Bornholdt 2013:23316014}"	"EcoO109I"	""	"Variant absent from 160 control X-chromosomes."	"Unknown"	""	""	"0"	""	""	"g.21882633T>C"	""	"likely pathogenic"	""
"0000187910"	"20"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"01533"	"MBTPS2_000019"	"g.21899039G>A"	""	"{PMID:Oeffner 2009:19361614}"	"TaiI"	""	"not in 225 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.21880921G>A"	""	"pathogenic"	""
"0000187911"	"0"	"10"	"X"	"21899039"	"21899039"	"subst"	"0"	"01533"	"MBTPS2_000019"	"g.21899039G>A"	""	"{PMID:Oeffner 2009:19361614}"	""	""	"cloned in EYFP fusion construc in pcDNA3.1; CHO expression normal protein synthesis/localisation"	"In vitro (cloned)"	""	""	"0"	""	""	"g.21880921G>A"	""	"NA"	""
"0000187912"	"0"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"01533"	"MBTPS2_000019"	"g.21899039G>A"	""	"{PMID:Oeffner 2009:19361614}"	""	""	"cloned in EYFP fusion construc in pcDNA3.1; CHO expression no complementation SP2 deficiency"	"In vitro (cloned)"	""	""	"0"	""	""	"g.21880921G>A"	""	"NA"	""
"0000187913"	"0"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"01533"	"MBTPS2_000019"	"g.21899039G>A"	""	"{PMID:Oeffner 2009:19361614}"	""	""	"cloned in EYFP fusion construc in pcDNA3.1; CHO expression strongly reduced sterol resposiveness"	"In vitro (cloned)"	""	""	"0"	""	""	"g.21880921G>A"	""	"NA"	""
"0000187914"	"0"	"10"	"X"	"21900637"	"21900637"	"subst"	"0"	"01533"	"MBTPS2_000021"	"g.21900637T>C"	""	"{PMID:Oeffner 2009:19361614}"	""	""	"cloned in EYFP fusion construc in pcDNA3.1; CHO expression normal protein synthesis/localisation"	"In vitro (cloned)"	""	""	"0"	""	""	"g.21882519T>C"	""	"NA"	""
"0000187915"	"0"	"90"	"X"	"21900637"	"21900637"	"subst"	"0"	"01533"	"MBTPS2_000021"	"g.21900637T>C"	""	"{PMID:Oeffner 2009:19361614}"	""	""	"cloned in EYFP fusion construc in pcDNA3.1; CHO expression no complementation SP2 deficiency"	"In vitro (cloned)"	""	""	"0"	""	""	"g.21882519T>C"	""	"NA"	""
"0000187916"	"0"	"70"	"X"	"21900637"	"21900637"	"subst"	"0"	"01533"	"MBTPS2_000021"	"g.21900637T>C"	""	"{PMID:Oeffner 2009:19361614}"	""	""	"cloned in EYFP fusion construc in pcDNA3.1; CHO expression reduced sterol resposiveness"	"In vitro (cloned)"	""	""	"0"	""	""	"g.21882519T>C"	""	"NA"	""
"0000187917"	"0"	"90"	"X"	"21900736"	"21900736"	"subst"	"0"	"01533"	"MBTPS2_000025"	"g.21900736A>G"	""	"{PMID:Aten 2010:20672378}"	""	""	"cloned in EYFP fusion construc in pcDNA3.1; CHO expression reduced sterol resposiveness"	"In vitro (cloned)"	""	""	"0"	""	""	"g.21882618A>G"	""	"NA"	""
"0000187918"	"0"	"90"	"X"	"21900736"	"21900736"	"subst"	"0"	"01533"	"MBTPS2_000025"	"g.21900736A>G"	""	"{PMID:Aten 2010:20672378}"	""	""	"cloned in EYFP fusion construc in pcDNA3.1; CHO expression no complementation SP2 deficiency"	"In vitro (cloned)"	""	""	"0"	""	""	"g.21882618A>G"	""	"NA"	""
"0000187919"	"0"	"10"	"X"	"21863325"	"21863325"	"subst"	"0"	"01533"	"MBTPS2_000018"	"g.21863325G>A"	""	"{PMID:Oeffner 2009:19361614}"	""	""	"cloned in EYFP fusion construc in pcDNA3.1; CHO expression normal protein synthesis/localisation"	"In vitro (cloned)"	""	""	"0"	""	""	"g.21845207G>A"	""	"NA"	""
"0000187920"	"0"	"70"	"X"	"21863325"	"21863325"	"subst"	"0"	"01533"	"MBTPS2_000018"	"g.21863325G>A"	""	"{PMID:Oeffner 2009:19361614}"	""	""	"cloned in EYFP fusion construc in pcDNA3.1; CHO expression limited complementation SP2 deficiency"	"In vitro (cloned)"	""	""	"0"	""	""	"g.21845207G>A"	""	"NA"	""
"0000187921"	"0"	"70"	"X"	"21863325"	"21863325"	"subst"	"0"	"01533"	"MBTPS2_000018"	"g.21863325G>A"	""	"{PMID:Oeffner 2009:19361614}"	""	""	"cloned in EYFP fusion construc in pcDNA3.1; CHO expression reduced sterol resposiveness"	"In vitro (cloned)"	""	""	"0"	""	""	"g.21845207G>A"	""	"NA"	""
"0000187922"	"0"	"10"	"X"	"21886591"	"21886591"	"subst"	"0"	"01533"	"MBTPS2_000020"	"g.21886591G>T"	""	"{PMID:Oeffner 2009:19361614}"	""	""	"cloned in EYFP fusion construc in pcDNA3.1; CHO expression normal protein synthesis/localisation"	"In vitro (cloned)"	""	""	"0"	""	""	"g.21868473G>T"	""	"NA"	""
"0000187923"	"0"	"70"	"X"	"21886591"	"21886591"	"subst"	"0"	"01533"	"MBTPS2_000020"	"g.21886591G>T"	""	"{PMID:Oeffner 2009:19361614}"	""	""	"cloned in EYFP fusion construc in pcDNA3.1; CHO expression limited complementation SP2 deficiency"	"In vitro (cloned)"	""	""	"0"	""	""	"g.21868473G>T"	""	"NA"	""
"0000187924"	"0"	"70"	"X"	"21886591"	"21886591"	"subst"	"0"	"01533"	"MBTPS2_000020"	"g.21886591G>T"	""	"{PMID:Oeffner 2009:19361614}"	""	""	"cloned in EYFP fusion construc in pcDNA3.1; CHO expression reduced sterol resposiveness"	"In vitro (cloned)"	""	""	"0"	""	""	"g.21868473G>T"	""	"NA"	""
"0000187925"	"0"	"10"	"X"	"21886594"	"21886594"	"subst"	"0"	"01533"	"MBTPS2_000001"	"g.21886594A>T"	""	"{PMID:Oeffner 2009:19361614}"	""	""	"cloned in EYFP fusion construc in pcDNA3.1; CHO expression normal protein synthesis/localisation"	"In vitro (cloned)"	""	""	"0"	""	""	"g.21868476A>T"	""	"NA"	""
"0000187926"	"0"	"70"	"X"	"21886594"	"21886594"	"subst"	"0"	"01533"	"MBTPS2_000001"	"g.21886594A>T"	""	"{PMID:Oeffner 2009:19361614}"	""	""	"cloned in EYFP fusion construc in pcDNA3.1; CHO expression limited complementation SP2 deficiency"	"In vitro (cloned)"	""	""	"0"	""	""	"g.21868476A>T"	""	"NA"	""
"0000187927"	"0"	"30"	"X"	"21886594"	"21886594"	"subst"	"0"	"01533"	"MBTPS2_000001"	"g.21886594A>T"	""	"{PMID:Oeffner 2009:19361614}"	""	""	"cloned in EYFP fusion construc in pcDNA3.1; CHO expression restores sterol resposiveness"	"In vitro (cloned)"	""	""	"0"	""	""	"g.21868476A>T"	""	"NA"	""
"0000187928"	"0"	"90"	"X"	"21886576"	"21886576"	"subst"	"0"	"00006"	"MBTPS2_000028"	"g.21886576T>G"	""	"{PMID:Oeffner 2011:21426410}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.21868458T>G"	""	"pathogenic"	""
"0000187929"	"0"	"50"	"X"	"21901903"	"21901903"	"subst"	"0"	"01533"	"MBTPS2_000017"	"g.21901903G>A"	"0.22-0.56"	""	""	""	""	"Germline"	""	"rs5951476"	"0"	""	""	"g.21883785G>A"	""	"VUS"	""
"0000187930"	"0"	"50"	"X"	"21857591"	"21857591"	"subst"	"0"	"01533"	"MBTPS2_000002"	"g.21857591C>A"	"0.14-0.39"	""	""	""	""	"Germline"	""	"rs6528055"	"0"	""	""	"g.21839473C>A"	""	"VUS"	""
"0000187931"	"0"	"50"	"X"	"21860960"	"21860960"	"subst"	"0"	"01533"	"MBTPS2_000003"	"g.21860960G>C"	"0.24"	""	""	""	""	"Germline"	""	"rs6528056"	"0"	""	""	"g.21842842G>C"	""	"VUS"	""
"0000187932"	"0"	"50"	"X"	"21861409"	"21861409"	"subst"	"0"	"01533"	"MBTPS2_000004"	"g.21861409G>C"	"0.00"	""	""	""	""	"Germline"	""	"rs5951639"	"0"	""	""	"g.21843291G>C"	""	"VUS"	""
"0000187933"	"0"	"50"	"X"	"21861434"	"21861434"	"subst"	"0.428277"	"01533"	"MBTPS2_000005"	"g.21861434A>G"	"0.24-0.57"	""	""	""	""	"Germline"	""	"rs3213451"	"0"	""	""	"g.21843316A>G"	""	"VUS"	""
"0000187934"	"0"	"50"	"X"	"21861487"	"21861487"	"subst"	"0"	"01533"	"MBTPS2_000006"	"g.21861487G>A"	"0.00-0.005"	""	""	""	""	"Germline"	""	"rs3213452"	"0"	""	""	"g.21843369G>A"	""	"VUS"	""
"0000187935"	"0"	"50"	"X"	"21862918"	"21862918"	"subst"	"0"	"01533"	"MBTPS2_000007"	"g.21862918G>A"	"0.00-0.002"	""	""	""	""	"Germline"	""	"rs7057211"	"0"	""	""	"g.21844800G>A"	""	"VUS"	""
"0000187936"	"0"	"50"	"X"	"21863402"	"21863402"	"subst"	"0"	"01533"	"MBTPS2_000008"	"g.21863402A>C"	"0.00"	""	""	""	""	"Germline"	""	"rs7059508"	"0"	""	""	"g.21845284A>C"	""	"VUS"	""
"0000187937"	"0"	"50"	"X"	"21863403"	"21863403"	"subst"	"0"	"01533"	"MBTPS2_000009"	"g.21863403C>T"	"0.00"	""	""	""	"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"	""	"rs7063422"	"0"	""	""	"g.21845285C>T"	""	"VUS"	""
"0000187938"	"0"	"50"	"X"	"21863451"	"21863453"	"del"	"0"	"01533"	"MBTPS2_000010"	"g.21863451_21863453del"	""	""	""	""	""	"Germline"	""	"rs3834687"	"0"	""	""	"g.21845333_21845335del"	""	"VUS"	""
"0000187939"	"0"	"50"	"X"	"21863561"	"21863561"	"subst"	"0"	"01533"	"MBTPS2_000011"	"g.21863561A>C"	"0.00-0.08"	""	""	""	""	"Germline"	""	"rs7063399"	"0"	""	""	"g.21845443A>C"	""	"VUS"	""
"0000187940"	"0"	"50"	"X"	"21869983"	"21869983"	"subst"	"0"	"01533"	"MBTPS2_000012"	"g.21869983A>G"	"0.12-0.20"	""	""	""	""	"Germline"	""	"rs2071210"	"0"	""	""	"g.21851865A>G"	""	"VUS"	""
"0000187941"	"0"	"50"	"X"	"21886807"	"21886807"	"subst"	"0"	"01533"	"MBTPS2_000013"	"g.21886807C>T"	"0.00-0.04"	""	""	""	""	"Germline"	""	"rs6653655"	"0"	""	""	"g.21868689C>T"	""	"VUS"	""
"0000187942"	"0"	"50"	"X"	"21887387"	"21887387"	"subst"	"0"	"01533"	"MBTPS2_000014"	"g.21887387C>T"	"0.13-0.40"	""	""	""	""	"Germline"	""	"rs2071191"	"0"	""	""	"g.21869269C>T"	""	"VUS"	""
"0000187943"	"0"	"50"	"X"	"21896913"	"21896913"	"subst"	"0"	"01533"	"MBTPS2_000015"	"g.21896913A>G"	"0.03-0.33"	""	""	""	""	"Germline"	""	"rs3752405"	"0"	""	""	"g.21878795A>G"	""	"VUS"	""
"0000187944"	"0"	"50"	"X"	"21898842"	"21898842"	"subst"	"0"	"01533"	"MBTPS2_000016"	"g.21898842C>A"	"0.03-0.33"	""	""	""	""	"Germline"	""	"rs6633469"	"0"	""	""	"g.21880724C>A"	""	"VUS"	""
"0000291583"	"0"	"30"	"X"	"21896786"	"21896786"	"subst"	"0.000431549"	"01943"	"MBTPS2_000059"	"g.21896786C>T"	""	""	""	"MBTPS2(NM_015884.3):c.1237C>T (p.H413Y, p.(His413Tyr)), MBTPS2(NM_015884.4):c.1237C>T (p.H413Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.21878668C>T"	""	"likely benign"	""
"0000291584"	"0"	"30"	"X"	"21863355"	"21863355"	"subst"	"7.3539E-5"	"01943"	"MBTPS2_000050"	"g.21863355G>A"	""	""	""	"MBTPS2(NM_015884.3):c.291G>A (p.T97=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.21845237G>A"	""	"likely benign"	""
"0000291585"	"0"	"30"	"X"	"21863454"	"21863456"	"del"	"0"	"01943"	"MBTPS2_000052"	"g.21863454_21863456del"	""	""	""	"MBTPS2(NM_015884.3):c.390_392del (p.(Ser136del)), MBTPS2(NM_015884.3):c.390_392delATC (p.S136del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.21845336_21845338del"	""	"likely benign"	""
"0000291586"	"0"	"30"	"X"	"21863472"	"21863472"	"subst"	"0.000316815"	"01943"	"MBTPS2_000053"	"g.21863472G>A"	""	""	""	"MBTPS2(NM_015884.3):c.408G>A (p.S136=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.21845354G>A"	""	"likely benign"	""
"0000291587"	"0"	"30"	"X"	"21869647"	"21869647"	"subst"	"0.0028424"	"01943"	"MBTPS2_000054"	"g.21869647C>T"	""	""	""	"MBTPS2(NM_015884.3):c.459C>T (p.P153=), MBTPS2(NM_015884.4):c.459C>T (p.P153=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.21851529C>T"	""	"likely benign"	""
"0000333411"	"0"	"50"	"X"	"21863430"	"21863447"	"del"	"0"	"01804"	"MBTPS2_000051"	"g.21863430_21863447del"	""	""	""	"MBTPS2(NM_015884.3):c.366_383del (p.(Ser131_Ser136del)), MBTPS2(NM_015884.3):c.366_383delCTCTTCTTCCTCTTCCTC (p.S131_S136del), MBTPS2(NM_015884.4):c..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.21845312_21845329del"	""	"VUS"	""
"0000333412"	"0"	"50"	"X"	"21869673"	"21869673"	"subst"	"0.000223824"	"01804"	"MBTPS2_000055"	"g.21869673C>T"	""	""	""	"MBTPS2(NM_015884.3):c.485C>T (p.T162M, p.(Thr162Met)), MBTPS2(NM_015884.4):c.485C>T (p.T162M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.21851555C>T"	""	"VUS"	""
"0000333414"	"0"	"50"	"X"	"21875648"	"21875648"	"subst"	"8.97575E-5"	"01804"	"MBTPS2_000057"	"g.21875648A>G"	""	""	""	"YY2(NM_206923.3):c.1046A>G (p.N349S, p.(Asn349Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.21857530A>G"	""	"VUS"	""
"0000333415"	"0"	"50"	"X"	"21886620"	"21886620"	"subst"	"7.83274E-5"	"01804"	"MBTPS2_000058"	"g.21886620A>G"	""	""	""	"MBTPS2(NM_015884.3):c.706A>G (p.(Ile236Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.21868502A>G"	""	"VUS"	""
"0000342885"	"0"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"02327"	"MBTPS2_000019"	"g.21899039G>A"	""	""	""	"MBTPS2(NM_015884.4):c.1286G>A (p.R429H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.21880921G>A"	""	"pathogenic"	""
"0000575266"	"0"	"30"	"X"	"21863371"	"21863371"	"subst"	"0.000662267"	"01943"	"MBTPS2_000061"	"g.21863371G>A"	""	""	""	"MBTPS2(NM_015884.3):c.307G>A (p.A103T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.21845253G>A"	""	"likely benign"	""
"0000575268"	"0"	"30"	"X"	"21869673"	"21869673"	"subst"	"0.000223824"	"01943"	"MBTPS2_000055"	"g.21869673C>T"	""	""	""	"MBTPS2(NM_015884.3):c.485C>T (p.T162M, p.(Thr162Met)), MBTPS2(NM_015884.4):c.485C>T (p.T162M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.21851555C>T"	""	"likely benign"	""
"0000575269"	"0"	"30"	"X"	"21871590"	"21871590"	"subst"	"0.0002631"	"01943"	"MBTPS2_000063"	"g.21871590G>A"	""	""	""	"MBTPS2(NM_015884.3):c.639G>A (p.S213=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.21853472G>A"	""	"likely benign"	""
"0000575273"	"0"	"50"	"X"	"21875509"	"21875509"	"subst"	"0"	"01804"	"MBTPS2_000067"	"g.21875509C>G"	""	""	""	"YY2(NM_206923.3):c.907C>G (p.(Leu303Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.21857391C>G"	""	"VUS"	""
"0000575275"	"0"	"30"	"X"	"21875614"	"21875614"	"subst"	"1.12086E-5"	"01804"	"MBTPS2_000069"	"g.21875614G>A"	""	""	""	"YY2(NM_206923.3):c.1012G>A (p.(Asp338Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.21857496G>A"	""	"likely benign"	""
"0000575276"	"0"	"50"	"X"	"21875648"	"21875648"	"subst"	"8.97575E-5"	"01943"	"MBTPS2_000057"	"g.21875648A>G"	""	""	""	"YY2(NM_206923.3):c.1046A>G (p.N349S, p.(Asn349Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.21857530A>G"	""	"VUS"	""
"0000575277"	"0"	"30"	"X"	"21896250"	"21896250"	"subst"	"8.97198E-5"	"02325"	"MBTPS2_000070"	"g.21896250G>A"	""	""	""	"MBTPS2(NM_015884.4):c.1061G>A (p.R354H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.21878132G>A"	""	"likely benign"	""
"0000575278"	"0"	"90"	"X"	"21900736"	"21900736"	"subst"	"0"	"02327"	"MBTPS2_000025"	"g.21900736A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.21882618A>G"	""	"pathogenic"	""
"0000619400"	"0"	"30"	"X"	"21863430"	"21863447"	"del"	"0"	"01943"	"MBTPS2_000051"	"g.21863430_21863447del"	""	""	""	"MBTPS2(NM_015884.3):c.366_383del (p.(Ser131_Ser136del)), MBTPS2(NM_015884.3):c.366_383delCTCTTCTTCCTCTTCCTC (p.S131_S136del), MBTPS2(NM_015884.4):c..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.21845312_21845329del"	""	"likely benign"	""
"0000619401"	"0"	"30"	"X"	"21869673"	"21869673"	"subst"	"0.000223824"	"02325"	"MBTPS2_000055"	"g.21869673C>T"	""	""	""	"MBTPS2(NM_015884.3):c.485C>T (p.T162M, p.(Thr162Met)), MBTPS2(NM_015884.4):c.485C>T (p.T162M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.21851555C>T"	""	"likely benign"	""
"0000619402"	"0"	"70"	"X"	"21900712"	"21900712"	"subst"	"0"	"02327"	"MBTPS2_000024"	"g.21900712G>A"	""	""	""	"MBTPS2(NM_015884.3):c.1499G>A (p.G500D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.21882594G>A"	""	"likely pathogenic"	""
"0000624555"	"0"	"30"	"X"	"21863430"	"21863447"	"del"	"0"	"02325"	"MBTPS2_000051"	"g.21863430_21863447del"	""	""	""	"MBTPS2(NM_015884.3):c.366_383del (p.(Ser131_Ser136del)), MBTPS2(NM_015884.3):c.366_383delCTCTTCTTCCTCTTCCTC (p.S131_S136del), MBTPS2(NM_015884.4):c..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.21845312_21845329del"	""	"likely benign"	""
"0000652870"	"1"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"03575"	"MBTPS2_000019"	"g.21899039G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs122468178}"	"Germline"	""	"rs122468178"	"0"	""	""	"g.21880921G>A"	""	"pathogenic"	""
"0000659244"	"0"	"30"	"X"	"21874871"	"21874871"	"subst"	"2.24086E-5"	"01943"	"MBTPS2_000071"	"g.21874871A>G"	""	""	""	"YY2(NM_206923.3):c.269A>G (p.Y90C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.21856753A>G"	""	"likely benign"	""
"0000659245"	"0"	"30"	"X"	"21900620"	"21900620"	"subst"	"0.000654491"	"01943"	"MBTPS2_000072"	"g.21900620A>G"	""	""	""	"MBTPS2(NM_015884.3):c.1407A>G (p.Q469=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.21882502A>G"	""	"likely benign"	""
"0000682343"	"0"	"30"	"X"	"21896651"	"21896651"	"subst"	"0"	"01943"	"MBTPS2_000073"	"g.21896651A>T"	""	""	""	"MBTPS2(NM_015884.3):c.1102A>T (p.T368S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682344"	"0"	"50"	"X"	"21900583"	"21900583"	"subst"	"5.5982E-6"	"02325"	"MBTPS2_000074"	"g.21900583T>C"	""	""	""	"MBTPS2(NM_015884.4):c.1370T>C (p.I457T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000728764"	"0"	"30"	"X"	"21857882"	"21857882"	"subst"	"0.000306624"	"01943"	"MBTPS2_000075"	"g.21857882G>C"	""	""	""	"MBTPS2(NM_015884.3):c.30G>C (p.V10=), MBTPS2(NM_015884.4):c.30G>C (p.V10=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000810233"	"0"	"10"	"X"	"21869647"	"21869647"	"subst"	"0.0028424"	"02329"	"MBTPS2_000054"	"g.21869647C>T"	""	""	""	"MBTPS2(NM_015884.3):c.459C>T (p.P153=), MBTPS2(NM_015884.4):c.459C>T (p.P153=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000810234"	"0"	"90"	"X"	"21900712"	"21900712"	"subst"	"0"	"01943"	"MBTPS2_000024"	"g.21900712G>A"	""	""	""	"MBTPS2(NM_015884.3):c.1499G>A (p.G500D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000816621"	"0"	"70"	"X"	"21900747"	"21900747"	"subst"	"0"	"03897"	"MBTPS2_000076"	"g.21900747G>A"	""	""	"UA-01-2021"	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"VUS"	""
"0000856518"	"0"	"30"	"X"	"21861429"	"21861429"	"subst"	"7.27627E-5"	"01943"	"MBTPS2_000077"	"g.21861429T>A"	""	""	""	"MBTPS2(NM_015884.3):c.217T>A (p.Y73N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000856519"	"0"	"30"	"X"	"21871563"	"21871563"	"subst"	"0.000693931"	"01943"	"MBTPS2_000080"	"g.21871563G>A"	""	""	""	"MBTPS2(NM_015884.3):c.612G>A (p.L204=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000867273"	"0"	"30"	"X"	"21863394"	"21863394"	"subst"	"0"	"01943"	"MBTPS2_000078"	"g.21863394C>G"	""	""	""	"MBTPS2(NM_015884.3):c.330C>G (p.P110=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000867274"	"0"	"30"	"X"	"21869648"	"21869648"	"subst"	"2.79777E-5"	"01943"	"MBTPS2_000079"	"g.21869648G>A"	""	""	""	"MBTPS2(NM_015884.3):c.460G>A (p.V154I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000867275"	"0"	"30"	"X"	"21887670"	"21887670"	"subst"	"0"	"01943"	"MBTPS2_000081"	"g.21887670C>T"	""	""	""	"MBTPS2(NM_015884.3):c.844C>T (p.L282=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000920318"	"21"	"90"	"X"	"21886672"	"21886672"	"subst"	"0"	"00006"	"MBTPS2_000030"	"g.21886672G>C"	""	"{PMID:Stray-Pedersen 2017:27577878}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.21868554G>C"	""	"pathogenic"	"ACMG"
"0000931372"	"0"	"10"	"X"	"21896786"	"21896786"	"subst"	"0.000431549"	"01804"	"MBTPS2_000059"	"g.21896786C>T"	""	""	""	"MBTPS2(NM_015884.3):c.1237C>T (p.H413Y, p.(His413Tyr)), MBTPS2(NM_015884.4):c.1237C>T (p.H413Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000970975"	"0"	"30"	"X"	"21863454"	"21863456"	"del"	"0"	"01804"	"MBTPS2_000052"	"g.21863454_21863456del"	""	""	""	"MBTPS2(NM_015884.3):c.390_392del (p.(Ser136del)), MBTPS2(NM_015884.3):c.390_392delATC (p.S136del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000984605"	"0"	"30"	"X"	"21863022"	"21863022"	"subst"	"0"	"02329"	"MBTPS2_000082"	"g.21863022G>A"	""	""	""	"MBTPS2(NM_015884.4):c.225-267G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000984606"	"0"	"30"	"X"	"21863402"	"21863402"	"subst"	"0"	"01804"	"MBTPS2_000008"	"g.21863402A>C"	""	""	""	"MBTPS2(NM_015884.4):c.338A>C (p.(Tyr113Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000984607"	"0"	"30"	"X"	"21863430"	"21863447"	"del"	"0"	"02329"	"MBTPS2_000051"	"g.21863430_21863447del"	""	""	""	"MBTPS2(NM_015884.3):c.366_383del (p.(Ser131_Ser136del)), MBTPS2(NM_015884.3):c.366_383delCTCTTCTTCCTCTTCCTC (p.S131_S136del), MBTPS2(NM_015884.4):c..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000984608"	"0"	"50"	"X"	"21874463"	"21874463"	"del"	"0"	"01804"	"MBTPS2_000083"	"g.21874463del"	""	""	""	"MBTPS2(NM_015884.4):c.670+2842del"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001006649"	"0"	"30"	"X"	"21874625"	"21874625"	"subst"	"0"	"01804"	"MBTPS2_000084"	"g.21874625C>G"	""	""	""	"YY2(NM_206923.3):c.23C>G (p.(Ser8Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001006650"	"0"	"50"	"X"	"21874934"	"21874934"	"subst"	"0"	"01804"	"MBTPS2_000085"	"g.21874934T>C"	""	""	""	"YY2(NM_206923.3):c.332T>C (p.(Ile111Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001016014"	"0"	"30"	"X"	"21896786"	"21896786"	"subst"	"0.000431549"	"02329"	"MBTPS2_000059"	"g.21896786C>T"	""	""	""	"MBTPS2(NM_015884.3):c.1237C>T (p.H413Y, p.(His413Tyr)), MBTPS2(NM_015884.4):c.1237C>T (p.H413Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001016015"	"0"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"02329"	"MBTPS2_000019"	"g.21899039G>A"	""	""	""	"MBTPS2(NM_015884.4):c.1286G>A (p.R429H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001027475"	"0"	"30"	"X"	"21857882"	"21857882"	"subst"	"0.000306624"	"02329"	"MBTPS2_000075"	"g.21857882G>C"	""	""	""	"MBTPS2(NM_015884.3):c.30G>C (p.V10=), MBTPS2(NM_015884.4):c.30G>C (p.V10=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001027476"	"0"	"70"	"X"	"21871589"	"21871589"	"subst"	"0"	"02327"	"MBTPS2_000086"	"g.21871589C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001048125"	"0"	"70"	"X"	"21871589"	"21871589"	"subst"	"0"	"00006"	"MBTPS2_000086"	"g.21871589C>G"	""	"{PMID:Cuperus 2025:40960197}, {DOI:Cuperus 2025:10.1111/ddg.15941}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.21853471C>G"	""	"likely pathogenic (dominant)"	""
"0001048126"	"21"	"90"	"X"	"21871589"	"21871589"	"subst"	"5.59647E-6"	"00006"	"MBTPS2_000087"	"g.21871589C>T"	""	"{PMID:Chen 2019:29951998}, {DOI:Chen 2019: 10.1111/ijd.14129}"	""	"C638T"	""	"Germline"	"yes"	""	"0"	""	""	"g.21853471C>T"	""	"pathogenic (recessive)"	""
"0001048131"	"0"	"70"	"X"	"21871550"	"21871550"	"subst"	"0"	"00006"	"MBTPS2_000088"	"g.21871550C>T"	""	"{PMID:Zhang 2016:27663151}, {DOI:Zhang 2016:10.1111/ced.12889}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.21853432C>T"	""	"likely pathogenic (recessive)"	""
"0001048135"	"21"	"90"	"X"	"21900604"	"21900604"	"subst"	"0"	"00006"	"MBTPS2_000089"	"g.21900604T>C"	""	"{PMID:Haghighi 2013:22931912}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.21882486T>C"	""	"pathogenic (recessive)"	""
"0001048136"	"0"	"90"	"X"	"21900573"	"21900573"	"subst"	"0"	"00006"	"MBTPS2_000090"	"g.21900573G>C"	""	"{PMID:Araujo 2015:25685152}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.21882455G>C"	""	"pathogenic (recessive)"	""
"0001048139"	"21"	"70"	"X"	"21900736"	"21900736"	"subst"	"0"	"00006"	"MBTPS2_000091"	"g.21900736A>C"	""	"{PMID:Fong 2015:25683132}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.21882618A>C"	""	"likely pathogenic (recessive)"	""
"0001048140"	"21"	"90"	"X"	"21900736"	"21900736"	"subst"	"0"	"00006"	"MBTPS2_000025"	"g.21900736A>G"	""	"{PMID:Fong 2012:22816986}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.21882618A>G"	""	"pathogenic (recessive)"	""
"0001048142"	"21"	"90"	"X"	"21896190"	"21896190"	"subst"	"0"	"00006"	"MBTPS2_000092"	"g.21896190G>A"	""	"{PMID:Pietrzak 2012:22781927}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.21878072G>A"	""	"pathogenic (recessive)"	""
"0001048144"	"21"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"00006"	"MBTPS2_000019"	"g.21899039G>A"	""	"{PMID:Naiki 2012:22105905}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.21880921G>A"	""	"pathogenic (recessive)"	""
"0001048145"	"21"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"00006"	"MBTPS2_000019"	"g.21899039G>A"	""	"{PMID:Nakayama 2011:21179107}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.21880921G>A"	""	"pathogenic (recessive)"	""
"0001048146"	"21"	"90"	"X"	"21886576"	"21886576"	"subst"	"0"	"00006"	"MBTPS2_000028"	"g.21886576T>G"	""	"{PMID:Wang 2013:24313295}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.21868458T>G"	""	"pathogenic (recessive)"	""
"0001048147"	"21"	"90"	"X"	"21857923"	"21857923"	"subst"	"0"	"00006"	"MBTPS2_000093"	"g.21857923T>C"	""	"{PMID:Izumi 2013:23551428}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.21839805T>C"	""	"pathogenic (recessive)"	""
"0001048148"	"0"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"00006"	"MBTPS2_000019"	"g.21899039G>A"	""	"{PMID:Corujeira 2013:24090718}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.21880921G>A"	""	"pathogenic (recessive)"	""
"0001048155"	"21"	"70"	"X"	"21869704"	"21869704"	"subst"	"0"	"00006"	"MBTPS2_000094"	"g.21869704A>C"	""	"{PMID:Lim 2023:37305034}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.21851586A>C"	""	"likely pathogenic (recessive)"	""
"0001048156"	"0"	"90"	"X"	"21900646"	"21900646"	"subst"	"0"	"00006"	"MBTPS2_000026"	"g.21900646C>A"	""	"{PMID:Ferrari 2017:28329493}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.21882528C>A"	""	"pathogenic (recessive)"	""
"0001048157"	"20"	"90"	"X"	"21900637"	"21900637"	"subst"	"0"	"00006"	"MBTPS2_000021"	"g.21900637T>C"	""	"{PMID:Nemer 2017:28717930}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.21882519T>C"	""	"pathogenic (recessive)"	""
"0001048158"	"21"	"90"	"X"	"21900707"	"21900707"	"subst"	"0"	"00006"	"MBTPS2_000095"	"g.21900707G>T"	""	"{PMID:Yang 2019:30294811}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.21882589G>T"	""	"pathogenic (recessive)"	""
"0001048159"	"0"	"90"	"X"	"21857854"	"21857854"	"subst"	"0"	"00006"	"MBTPS2_000096"	"g.21857854T>C"	""	"{PMID:Chen 2020:31646662}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.21839736T>C"	""	"pathogenic (recessive)"	""
"0001048160"	"21"	"90"	"X"	"21899051"	"21899051"	"subst"	"0"	"00006"	"MBTPS2_000097"	"g.21899051T>C"	""	"{PMID:Jiang 2019:31215178}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.21880933T>C"	""	"pathogenic (recessive)"	""
"0001048175"	"0"	"70"	"X"	"21900751"	"21900751"	"subst"	"0"	"00006"	"MBTPS2_000034"	"g.21900751T>C"	""	"{PMID:Plachy 2019:30753492}, {PMID:Plachy 2023:36714562}"	""	""	"ACMG PM1(sp), PM2(m), PP3(m), PP5(sp)"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.21882633T>C"	""	"likely pathogenic (recessive)"	"ACMG"
"0001048197"	"21"	"90"	"X"	"21861366"	"21861366"	"subst"	"0"	"00006"	"MBTPS2_000098"	"g.21861366T>A"	""	"{PMID:Khan 2019:30589367}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.21843248T>A"	""	"pathogenic (recessive)"	""
"0001048198"	"21"	"90"	"X"	"21899039"	"21899039"	"subst"	"0"	"00006"	"MBTPS2_000019"	"g.21899039G>A"	""	"{PMID:Basilious 2020:32482964}"	""	"R429H"	""	"Germline"	"yes"	""	"0"	""	""	"g.21880921G>A"	""	"pathogenic (recessive)"	""
"0001048199"	"0"	"90"	"X"	"21886600"	"21886600"	"subst"	"0"	"00006"	"MBTPS2_000029"	"g.21886600T>C"	""	"{PMID:Murase 2020:31907960}"	""	"Phe229Ser"	"variant not in mother"	"Germline/De novo (untested)"	""	""	"0"	"X-inactivation not analysed"	""	"g.21868482T>C"	""	"pathogenic (recessive)"	""
"0001048205"	"21"	"90"	"X"	"21900589"	"21900589"	"subst"	"0"	"00006"	"MBTPS2_000040"	"g.21900589A>G"	""	"{PMID:Lindert 2016:27380894}, {PMID:Lim 2021:34093655}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.21882471A>G"	""	"pathogenic (recessive)"	""
"0001048206"	"21"	"90"	"X"	"21900728"	"21900728"	"subst"	"0"	"00006"	"MBTPS2_000041"	"g.21900728G>C"	""	"{PMID:Lindert 2016:27380894}, {PMID:Lim 2021:34093655}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.21882610G>C"	""	"pathogenic (recessive)"	""
"0001048207"	"21"	"90"	"X"	"21887801"	"21887801"	"subst"	"0"	"00006"	"MBTPS2_000099"	"g.21887801G>A"	""	"{PMID:Irurzun 2021:33742461}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.21869683G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0001048210"	"21"	"70"	"X"	"21886680"	"21886680"	"subst"	"0"	"00006"	"MBTPS2_000100"	"g.21886680G>T"	""	"{PMID:Strong 2021:34655156}"	""	"766G>A (Val256Leu)"	"variant characterised functionally"	"Germline"	""	""	"0"	""	""	"g.21868562G>T"	""	"likely pathogenic (recessive)"	""
"0001048327"	"0"	"70"	"X"	"21900589"	"21900589"	"subst"	"0"	"00006"	"MBTPS2_000040"	"g.21900589A>G"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG"	"De novo"	""	""	"0"	""	""	"g.21882471A>G"	""	"likely pathogenic"	""
"0001048340"	"21"	"90"	"X"	"21887801"	"21887801"	"subst"	"0"	"00006"	"MBTPS2_000099"	"g.21887801G>A"	""	"{PMID:Chen 2023:36539961}"	""	""	"mii-gene splicing assay shows deletion ex7 in mRNA"	"Germline"	""	""	"0"	""	""	"g.21869683G>A"	""	"pathogenic (recessive)"	""
"0001048341"	"21"	"70"	"X"	"21863309"	"21863309"	"subst"	"0"	"00006"	"MBTPS2_000101"	"g.21863309T>C"	""	"{PMID:Shin 2022:35221597}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.21845191T>C"	""	"likely pathogenic (recessive)"	""
"0001048342"	"21"	"70"	"X"	"21900712"	"21900712"	"subst"	"0"	"00006"	"MBTPS2_000024"	"g.21900712G>A"	""	"{PMID:Rubaian 2023:38089015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.21882594G>A"	""	"likely pathogenic (recessive)"	""
"0001048343"	"21"	"70"	"X"	"21896193"	"21896193"	"subst"	"0"	"00006"	"MBTPS2_000102"	"g.21896193G>T"	""	"{PMID:Caengprasath 2023:37923657}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.21878075G>T"	""	"likely pathogenic (recessive)"	""
"0001048344"	"21"	"70"	"X"	"21900736"	"21900736"	"subst"	"0"	"00006"	"MBTPS2_000103"	"g.21900736A>T"	""	"{PMID:Caengprasath 2023:37923657}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.21882618A>T"	""	"likely pathogenic (recessive)"	""
"0001048346"	"0"	"70"	"X"	"21886641"	"21886641"	"subst"	"0"	"00006"	"MBTPS2_000104"	"g.21886641C>T"	""	"{PMID:Migliavacca 2023:37042943}"	""	""	"ACMG PM2, PP3, PS2"	"De novo"	""	""	"0"	""	""	"g.21868523C>T"	""	"likely pathogenic (recessive)"	"ACMG"


## 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 MBTPS2
## Count = 202
"{{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}}"
"0000002840"	"00000534"	"50"	"670"	"4200"	"670"	"4200"	"c.670+4200del"	"r.(=)"	"p.(=)"	""
"0000006467"	"00000534"	"50"	"222"	"0"	"222"	"0"	"c.222A>G"	"r.(?)"	"p.(=)"	""
"0000006468"	"00000534"	"50"	"542"	"253"	"542"	"253"	"c.542+253A>G"	"r.(=)"	"p.(=)"	""
"0000006469"	"00000534"	"50"	"670"	"2766"	"670"	"2766"	"c.670+2766T>C"	"r.(=)"	"p.(=)"	""
"0000006470"	"00000534"	"50"	"970"	"1309"	"970"	"1309"	"c.970+1309C>T"	"r.(=)"	"p.(=)"	""
"0000006471"	"00000534"	"50"	"2690"	"0"	"2690"	"0"	"c.*1130G>A"	"r.(=)"	"p.(=)"	""
"0000008518"	"00000534"	"50"	"222"	"0"	"222"	"0"	"c.222A>G"	"r.(?)"	"p.(=)"	""
"0000008519"	"00000534"	"50"	"670"	"2766"	"670"	"2766"	"c.670+2766T>C"	"r.(=)"	"p.(=)"	""
"0000008520"	"00000534"	"50"	"970"	"1309"	"970"	"1309"	"c.970+1309C>T"	"r.(=)"	"p.(=)"	""
"0000008521"	"00000534"	"50"	"2690"	"0"	"2690"	"0"	"c.*1130G>A"	"r.(=)"	"p.(=)"	""
"0000010840"	"00000534"	"50"	"670"	"4200"	"670"	"4200"	"c.670+4200del"	"r.(=)"	"p.(=)"	""
"0000014423"	"00000534"	"50"	"76"	"-328"	"76"	"-328"	"c.76-328G>C"	"r.(=)"	"p.(=)"	""
"0000014425"	"00000534"	"50"	"542"	"253"	"542"	"253"	"c.542+253A>G"	"r.(=)"	"p.(=)"	""
"0000014427"	"00000534"	"50"	"670"	"4491"	"670"	"4491"	"c.670+4491A>G"	"r.(=)"	"p.(=)"	""
"0000171970"	"00000534"	"90"	"1515"	"0"	"1515"	"0"	"c.1515G>C"	"r.(?)"	"p.(Leu505Phe)"	"11"
"0000171971"	"00000534"	"90"	"1515"	"0"	"1515"	"0"	"c.1515G>C"	"r.(?)"	"p.(Leu505Phe)"	"11"
"0000171975"	"00000534"	"90"	"1376"	"0"	"1376"	"0"	"c.1376A>G"	"r.(?)"	"p.(Asn459Ser)"	"11"
"0000187827"	"00000534"	"90"	"671"	"-9"	"671"	"-9"	"c.671-9T>G"	"r.671_789del"	"p.Ile225Leufs*25"	"5i"
"0000187828"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.(Arg429His)"	"10"
"0000187829"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.(Arg429His)"	"10"
"0000187830"	"00000534"	"90"	"677"	"0"	"677"	"0"	"c.677G>T"	"r.(?)"	"p.(Trp226Leu)"	"6"
"0000187831"	"00000534"	"90"	"1424"	"0"	"1424"	"0"	"c.1424T>C"	"r.(?)"	"p.(Phe475Ser)"	"11"
"0000187832"	"00000534"	"90"	"255"	"-6"	"255"	"-6"	"c.225-6T>A"	"r.224_225ins225-4_225-1"	"p.Trp75*"	"2i"
"0000187833"	"00000534"	"90"	"255"	"-6"	"255"	"-6"	"c.225-6T>A"	"r.spl"	"p.?"	"2i"
"0000187834"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.(Arg429His)"	"10"
"0000187835"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.(Arg429His)"	"10"
"0000187836"	"00000534"	"90"	"1468"	"0"	"1468"	"0"	"c.1468A>G"	"r.(?)"	"p.(Lys490Glu)"	"11"
"0000187837"	"00000534"	"90"	"1499"	"0"	"1499"	"0"	"c.1499G>A"	"r.(?)"	"p.(Gly500Asp)"	"11"
"0000187854"	"00000534"	"90"	"261"	"0"	"261"	"0"	"c.261G>A"	"r.(?)"	"p.(Met87Ile)"	"3"
"0000187855"	"00000534"	"90"	"1523"	"0"	"1523"	"0"	"c.1523A>G"	"r.1523a>g"	"p.Asn508Ser"	"11"
"0000187856"	"00000534"	"90"	"1523"	"0"	"1523"	"0"	"c.1523A>G"	"r.(?)"	"p.(Asn508Ser)"	"11"
"0000187857"	"00000534"	"90"	"1523"	"0"	"1523"	"0"	"c.1523A>G"	"r.(?)"	"p.(Asn508Ser)"	"11"
"0000187858"	"00000534"	"90"	"1523"	"0"	"1523"	"0"	"c.1523A>G"	"r.(?)"	"p.(Asn508Ser)"	"11"
"0000187859"	"00000534"	"90"	"1523"	"0"	"1523"	"0"	"c.1523A>G"	"r.(?)"	"p.(Asn508Ser)"	"11"
"0000187860"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.(Arg429His)"	"10"
"0000187861"	"00000534"	"90"	"680"	"0"	"680"	"0"	"c.680A>T"	"r.(?)"	"p.(His227Leu)"	"6"
"0000187862"	"00000534"	"90"	"680"	"0"	"680"	"0"	"c.680A>T"	"r.(?)"	"p.(His227Leu)"	"6"
"0000187863"	"00000534"	"90"	"680"	"0"	"680"	"0"	"c.680A>T"	"r.(?)"	"p.(His227Leu)"	"6"
"0000187864"	"00000534"	"90"	"680"	"0"	"680"	"0"	"c.680A>T"	"r.(?)"	"p.(His227Leu)"	"6"
"0000187865"	"00000534"	"90"	"261"	"0"	"261"	"0"	"c.261G>A"	"r.(?)"	"p.(Met87Ile)"	"3"
"0000187866"	"00000534"	"90"	"261"	"0"	"261"	"0"	"c.261G>A"	"r.(?)"	"p.(Met87Ile)"	"3"
"0000187867"	"00000534"	"90"	"261"	"0"	"261"	"0"	"c.261G>A"	"r.(?)"	"p.(Met87Ile)"	"3"
"0000187868"	"00000534"	"90"	"261"	"0"	"261"	"0"	"c.261G>A"	"r.(?)"	"p.(Met87Ile)"	"3"
"0000187869"	"00000534"	"90"	"261"	"0"	"261"	"0"	"c.261G>A"	"r.(?)"	"p.(Met87Ile)"	"3"
"0000187870"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.(Arg429His)"	"10"
"0000187871"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.(Arg429His)"	"10"
"0000187872"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.(Arg429His)"	"10"
"0000187873"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.(Arg429His)"	"10"
"0000187874"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.(Arg429His)"	"10"
"0000187875"	"00000534"	"90"	"680"	"0"	"680"	"0"	"c.680A>T"	"r.(?)"	"p.(His227Leu)"	"6"
"0000187876"	"00000534"	"90"	"255"	"-6"	"255"	"-6"	"c.225-6T>A"	"r.spl"	"p.?"	"2i"
"0000187877"	"00000534"	"70"	"222"	"0"	"222"	"0"	"c.222A>G"	"r.(?)"	"p.(=)"	"2"
"0000187878"	"00000534"	"99"	"1433"	"0"	"1433"	"0"	"c.1433C>A"	"r.(?)"	"p.(Ala478Asp)"	"11"
"0000187879"	"00000534"	"10"	"222"	"0"	"222"	"0"	"c.222A>G"	"r.(?)"	"p.(Gln74=)"	"2"
"0000187880"	"00000534"	"70"	"261"	"0"	"261"	"0"	"c.261G>A"	"r.(?)"	"p.Met87Ile"	"3"
"0000187881"	"00000534"	"70"	"261"	"0"	"261"	"0"	"c.261G>A"	"r.(?)"	"p.Met87Ile"	"3"
"0000187882"	"00000534"	"70"	"261"	"0"	"261"	"0"	"c.261G>A"	"r.(?)"	"p.Met87Ile"	"3"
"0000187883"	"00000534"	"70"	"261"	"0"	"261"	"0"	"c.261G>A"	"r.(?)"	"p.Met87Ile"	"3"
"0000187884"	"00000534"	"90"	"261"	"0"	"261"	"0"	"c.261G>A"	"r.(?)"	"p.(Met87Ile)"	"3"
"0000187885"	"00000534"	"70"	"686"	"0"	"686"	"0"	"c.686T>C"	"r.(?)"	"Phe229Ser"	"6"
"0000187886"	"00000534"	"70"	"686"	"0"	"686"	"0"	"c.686T>C"	"r.(?)"	"Phe229Ser"	"6"
"0000187887"	"00000534"	"70"	"686"	"0"	"686"	"0"	"c.686T>C"	"r.(?)"	"Phe229Ser"	"6"
"0000187888"	"00000534"	"70"	"686"	"0"	"686"	"0"	"c.686T>C"	"r.(?)"	"Phe229Ser"	"6"
"0000187889"	"00000534"	"90"	"261"	"0"	"261"	"0"	"c.261G>A"	"r.(?)"	"p.(Met87Ile)"	"3"
"0000187890"	"00000534"	"70"	"758"	"0"	"758"	"0"	"c.758G>C"	"r.(?)"	"Gly253Ala"	"6"
"0000187891"	"00000534"	"70"	"758"	"0"	"758"	"0"	"c.758G>C"	"r.(?)"	"Gly253Ala"	"6"
"0000187892"	"00000534"	"50"	"774"	"0"	"774"	"0"	"c.774C>G"	"r.(?)"	"p.Ile258Met"	"6"
"0000187893"	"00000534"	"70"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.Arg429His"	"10"
"0000187894"	"00000534"	"70"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.Arg429His"	"10"
"0000187895"	"00000534"	"70"	"1388"	"0"	"1388"	"0"	"c.1388G>T"	"r.(?)"	"p.(Cys463Phe)"	"11"
"0000187896"	"00000534"	"90"	"261"	"0"	"261"	"0"	"c.261G>A"	"r.(?)"	"p.(Met87Ile)"	"3"
"0000187897"	"00000534"	"70"	"1424"	"0"	"1424"	"0"	"c.1424T>C"	"r.(?)"	"p.Phe475Ser"	"11"
"0000187898"	"00000534"	"70"	"1424"	"0"	"1424"	"0"	"c.1424T>C"	"r.(?)"	"p.Phe475Ser"	"11"
"0000187899"	"00000534"	"70"	"1427"	"0"	"1427"	"0"	"c.1427T>C"	"r.(?)"	"Leu476Ser"	"11"
"0000187900"	"00000534"	"70"	"1427"	"0"	"1427"	"0"	"c.1427T>C"	"r.(?)"	"Leu476Ser"	"11"
"0000187901"	"00000534"	"70"	"1427"	"0"	"1427"	"0"	"c.1427T>C"	"r.(?)"	"Leu476Ser"	"11"
"0000187902"	"00000534"	"70"	"1430"	"0"	"1430"	"0"	"c.1430A>T"	"r.(?)"	"p.Asp477Val"	"11"
"0000187903"	"00000534"	"70"	"1499"	"0"	"1499"	"0"	"c.1499G>A"	"r.(?)"	"p.Gly500Asp"	"11"
"0000187904"	"00000534"	"70"	"1499"	"0"	"1499"	"0"	"c.1499G>A"	"r.(?)"	"p.Gly500Asp"	"11"
"0000187905"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.(Arg429His)"	"10"
"0000187906"	"00000534"	"70"	"1499"	"0"	"1499"	"0"	"c.1499G>A"	"r.(?)"	"p.Gly500Asp"	"11"
"0000187907"	"00000534"	"70"	"1499"	"0"	"1499"	"0"	"c.1499G>A"	"r.(?)"	"p.Gly500Asp"	"11"
"0000187908"	"00000534"	"70"	"1523"	"0"	"1523"	"0"	"c.1523A>G"	"r.(?)"	"p.Asn508Ser"	"11"
"0000187909"	"00000534"	"70"	"1538"	"0"	"1538"	"0"	"c.1538T>C"	"r.(?)"	"p.Leu513Pro"	"11"
"0000187910"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.(Arg429His)"	"10"
"0000187911"	"00000534"	"10"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.Arg429His"	"10"
"0000187912"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.Arg429His"	"10"
"0000187913"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.Arg429His"	"10"
"0000187914"	"00000534"	"10"	"1424"	"0"	"1424"	"0"	"c.1424T>C"	"r.(?)"	"p.Phe475Ser"	"11"
"0000187915"	"00000534"	"90"	"1424"	"0"	"1424"	"0"	"c.1424T>C"	"r.(?)"	"p.Phe475Ser"	"11"
"0000187916"	"00000534"	"70"	"1424"	"0"	"1424"	"0"	"c.1424T>C"	"r.(?)"	"p.Phe475Ser"	"11"
"0000187917"	"00000534"	"90"	"1523"	"0"	"1523"	"0"	"c.1523A>G"	"r.1523a>g"	"p.Asn508Ser"	"11"
"0000187918"	"00000534"	"90"	"1523"	"0"	"1523"	"0"	"c.1523A>G"	"r.1523a>g"	"p.Asn508Ser"	"11"
"0000187919"	"00000534"	"10"	"261"	"0"	"261"	"0"	"c.261G>A"	"r.(?)"	"p.Met87Ile"	"3"
"0000187920"	"00000534"	"70"	"261"	"0"	"261"	"0"	"c.261G>A"	"r.(?)"	"p.Met87Ile"	"3"
"0000187921"	"00000534"	"70"	"261"	"0"	"261"	"0"	"c.261G>A"	"r.(?)"	"p.Met87Ile"	"3"
"0000187922"	"00000534"	"10"	"677"	"0"	"677"	"0"	"c.677G>T"	"r.(?)"	"p.Trp226Leu"	"6"
"0000187923"	"00000534"	"70"	"677"	"0"	"677"	"0"	"c.677G>T"	"r.(?)"	"p.Trp226Leu"	"6"
"0000187924"	"00000534"	"70"	"677"	"0"	"677"	"0"	"c.677G>T"	"r.(?)"	"p.Trp226Leu"	"6"
"0000187925"	"00000534"	"10"	"680"	"0"	"680"	"0"	"c.680A>T"	"r.(?)"	"p.His227Leu"	"6"
"0000187926"	"00000534"	"70"	"680"	"0"	"680"	"0"	"c.680A>T"	"r.(?)"	"p.His227Leu"	"6"
"0000187927"	"00000534"	"30"	"680"	"0"	"680"	"0"	"c.680A>T"	"r.(?)"	"p.His227Leu"	"6"
"0000187928"	"00000534"	"90"	"671"	"-9"	"671"	"-9"	"c.671-9T>G"	"r.671_789del"	"p.Ile225Leufs*25"	"5i"
"0000187929"	"00000534"	"50"	"2690"	"0"	"2690"	"0"	"c.*1130G>A"	"r.(?)"	"p.(=)"	"11"
"0000187930"	"00000534"	"50"	"-262"	"0"	"-262"	"0"	"c.-262C>A"	"r.(?)"	"p.?"	"1"
"0000187931"	"00000534"	"50"	"76"	"-328"	"76"	"-328"	"c.76-328G>C"	"r.(?)"	"p.(=)"	"1i"
"0000187932"	"00000534"	"50"	"197"	"0"	"197"	"0"	"c.197G>C"	"r.(?)"	"p.(Arg66Pro)"	"2"
"0000187933"	"00000534"	"50"	"222"	"0"	"222"	"0"	"c.222A>G"	"r.(?)"	"p.(=)"	"2"
"0000187934"	"00000534"	"50"	"224"	"51"	"224"	"51"	"c.224+51G>A"	"r.(?)"	"p.(=)"	"2i"
"0000187935"	"00000534"	"50"	"225"	"-371"	"225"	"-371"	"c.225-371G>A"	"r.(?)"	"p.(=)"	"2i"
"0000187936"	"00000534"	"50"	"338"	"0"	"338"	"0"	"c.338A>C"	"r.(?)"	"p.(Tyr113Ser)"	"3"
"0000187937"	"00000534"	"50"	"339"	"0"	"339"	"0"	"c.339C>T"	"r.(?)"	"p.(=)"	"3"
"0000187938"	"00000534"	"50"	"387"	"0"	"389"	"0"	"c.387_389del"	"Ser130del"	"p.(Ser136del)"	"3"
"0000187939"	"00000534"	"50"	"438"	"59"	"438"	"59"	"c.438+59A>C"	"r.(?)"	"p.(=)"	"3i"
"0000187940"	"00000534"	"50"	"542"	"253"	"542"	"253"	"c.542+253A>G"	"r.(?)"	"p.(=)"	"4i"
"0000187941"	"00000534"	"50"	"789"	"104"	"789"	"104"	"c.789+104C>T"	"r.(?)"	"p.(=)"	"6i"
"0000187942"	"00000534"	"50"	"790"	"-229"	"790"	"-229"	"c.790-229C>T"	"r.(?)"	"p.(=)"	"6i"
"0000187943"	"00000534"	"50"	"1261"	"103"	"1261"	"103"	"c.1261+103A>G"	"r.(?)"	"p.(=)"	"9i"
"0000187944"	"00000534"	"50"	"1262"	"-173"	"1262"	"-173"	"c.1262-173C>A"	"r.(?)"	"p.(=)"	"9i"
"0000291583"	"00000534"	"30"	"1237"	"0"	"1237"	"0"	"c.1237C>T"	"r.(?)"	"p.(His413Tyr)"	""
"0000291584"	"00000534"	"30"	"291"	"0"	"291"	"0"	"c.291G>A"	"r.(?)"	"p.(Thr97=)"	""
"0000291585"	"00000534"	"30"	"390"	"0"	"392"	"0"	"c.390_392del"	"r.(?)"	"p.(Ser136del)"	""
"0000291586"	"00000534"	"30"	"408"	"0"	"408"	"0"	"c.408G>A"	"r.(?)"	"p.(Ser136=)"	""
"0000291587"	"00000534"	"30"	"459"	"0"	"459"	"0"	"c.459C>T"	"r.(?)"	"p.(Pro153=)"	""
"0000333411"	"00000534"	"50"	"366"	"0"	"383"	"0"	"c.366_383del"	"r.(?)"	"p.(Ser131_Ser136del)"	""
"0000333412"	"00000534"	"50"	"485"	"0"	"485"	"0"	"c.485C>T"	"r.(?)"	"p.(Thr162Met)"	""
"0000333414"	"00000534"	"50"	"670"	"4027"	"670"	"4027"	"c.670+4027A>G"	"r.(=)"	"p.(=)"	""
"0000333415"	"00000534"	"50"	"706"	"0"	"706"	"0"	"c.706A>G"	"r.(?)"	"p.(Ile236Val)"	""
"0000342885"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.(Arg429His)"	""
"0000575266"	"00000534"	"30"	"307"	"0"	"307"	"0"	"c.307G>A"	"r.(?)"	"p.(Ala103Thr)"	""
"0000575268"	"00000534"	"30"	"485"	"0"	"485"	"0"	"c.485C>T"	"r.(?)"	"p.(Thr162Met)"	""
"0000575269"	"00000534"	"30"	"639"	"0"	"639"	"0"	"c.639G>A"	"r.(?)"	"p.(Ser213=)"	""
"0000575273"	"00000534"	"50"	"670"	"3888"	"670"	"3888"	"c.670+3888C>G"	"r.(=)"	"p.(=)"	""
"0000575275"	"00000534"	"30"	"670"	"3993"	"670"	"3993"	"c.670+3993G>A"	"r.(=)"	"p.(=)"	""
"0000575276"	"00000534"	"50"	"670"	"4027"	"670"	"4027"	"c.670+4027A>G"	"r.(=)"	"p.(=)"	""
"0000575277"	"00000534"	"30"	"1061"	"0"	"1061"	"0"	"c.1061G>A"	"r.(?)"	"p.(Arg354His)"	""
"0000575278"	"00000534"	"90"	"1523"	"0"	"1523"	"0"	"c.1523A>G"	"r.(?)"	"p.(Asn508Ser)"	""
"0000619400"	"00000534"	"30"	"366"	"0"	"383"	"0"	"c.366_383del"	"r.(?)"	"p.(Ser131_Ser136del)"	""
"0000619401"	"00000534"	"30"	"485"	"0"	"485"	"0"	"c.485C>T"	"r.(?)"	"p.(Thr162Met)"	""
"0000619402"	"00000534"	"70"	"1499"	"0"	"1499"	"0"	"c.1499G>A"	"r.(?)"	"p.(Gly500Asp)"	""
"0000624555"	"00000534"	"30"	"366"	"0"	"383"	"0"	"c.366_383del"	"r.(?)"	"p.(Ser131_Ser136del)"	""
"0000652870"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.(Arg429His)"	""
"0000659244"	"00000534"	"30"	"670"	"3250"	"670"	"3250"	"c.670+3250A>G"	"r.(=)"	"p.(=)"	""
"0000659245"	"00000534"	"30"	"1407"	"0"	"1407"	"0"	"c.1407A>G"	"r.(?)"	"p.(Gln469=)"	""
"0000682343"	"00000534"	"30"	"1102"	"0"	"1102"	"0"	"c.1102A>T"	"r.(?)"	"p.(Thr368Ser)"	""
"0000682344"	"00000534"	"50"	"1370"	"0"	"1370"	"0"	"c.1370T>C"	"r.(?)"	"p.(Ile457Thr)"	""
"0000728764"	"00000534"	"30"	"30"	"0"	"30"	"0"	"c.30G>C"	"r.(?)"	"p.(Val10=)"	""
"0000810233"	"00000534"	"10"	"459"	"0"	"459"	"0"	"c.459C>T"	"r.(?)"	"p.(Pro153=)"	""
"0000810234"	"00000534"	"90"	"1499"	"0"	"1499"	"0"	"c.1499G>A"	"r.(?)"	"p.(Gly500Asp)"	""
"0000816621"	"00000534"	"70"	"1534"	"0"	"1534"	"0"	"c.1534G>A"	"r.(?)"	"p.(Gly512Arg)"	""
"0000856518"	"00000534"	"30"	"217"	"0"	"217"	"0"	"c.217T>A"	"r.(?)"	"p.(Tyr73Asn)"	""
"0000856519"	"00000534"	"30"	"612"	"0"	"612"	"0"	"c.612G>A"	"r.(?)"	"p.(Leu204=)"	""
"0000867273"	"00000534"	"30"	"330"	"0"	"330"	"0"	"c.330C>G"	"r.(?)"	"p.(Pro110=)"	""
"0000867274"	"00000534"	"30"	"460"	"0"	"460"	"0"	"c.460G>A"	"r.(?)"	"p.(Val154Ile)"	""
"0000867275"	"00000534"	"30"	"844"	"0"	"844"	"0"	"c.844C>T"	"r.(?)"	"p.(Leu282=)"	""
"0000920318"	"00000534"	"90"	"758"	"0"	"758"	"0"	"c.758G>C"	"r.(?)"	"p.(Gly253Ala)"	"6"
"0000931372"	"00000534"	"10"	"1237"	"0"	"1237"	"0"	"c.1237C>T"	"r.(?)"	"p.(His413Tyr)"	""
"0000970975"	"00000534"	"30"	"390"	"0"	"392"	"0"	"c.390_392del"	"r.(?)"	"p.(Ser136del)"	""
"0000984605"	"00000534"	"30"	"225"	"-267"	"225"	"-267"	"c.225-267G>A"	"r.(=)"	"p.(=)"	""
"0000984606"	"00000534"	"30"	"338"	"0"	"338"	"0"	"c.338A>C"	"r.(?)"	"p.(Tyr113Ser)"	""
"0000984607"	"00000534"	"30"	"366"	"0"	"383"	"0"	"c.366_383del"	"r.(?)"	"p.(Ser131_Ser136del)"	""
"0000984608"	"00000534"	"50"	"670"	"2842"	"670"	"2842"	"c.670+2842del"	"r.(=)"	"p.(=)"	""
"0001006649"	"00000534"	"30"	"670"	"3004"	"670"	"3004"	"c.670+3004C>G"	"r.(=)"	"p.(=)"	""
"0001006650"	"00000534"	"50"	"670"	"3313"	"670"	"3313"	"c.670+3313T>C"	"r.(=)"	"p.(=)"	""
"0001016014"	"00000534"	"30"	"1237"	"0"	"1237"	"0"	"c.1237C>T"	"r.(?)"	"p.(His413Tyr)"	""
"0001016015"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.(Arg429His)"	""
"0001027475"	"00000534"	"30"	"30"	"0"	"30"	"0"	"c.30G>C"	"r.(?)"	"p.(Val10=)"	""
"0001027476"	"00000534"	"70"	"638"	"0"	"638"	"0"	"c.638C>G"	"r.(?)"	"p.(Ser213Trp)"	""
"0001048125"	"00000534"	"70"	"638"	"0"	"638"	"0"	"c.638C>G"	"r.(?)"	"p.(Ser213Trp)"	""
"0001048126"	"00000534"	"90"	"638"	"0"	"638"	"0"	"c.638C>T"	"r.(?)"	"p.(Ser213Leu)"	""
"0001048131"	"00000534"	"70"	"599"	"0"	"599"	"0"	"c.599C>T"	"r.(?)"	"p.(Ala200Val)"	""
"0001048135"	"00000534"	"90"	"1391"	"0"	"1391"	"0"	"c.1391T>C"	"r.(?)"	"p.(Phe464Ser)"	""
"0001048136"	"00000534"	"90"	"1360"	"0"	"1360"	"0"	"c.1360G>C"	"r.(?)"	"p.(Ala454Pro)"	""
"0001048139"	"00000534"	"70"	"1523"	"0"	"1523"	"0"	"c.1523A>C"	"r.(?)"	"p.(Asn508Thr)"	""
"0001048140"	"00000534"	"90"	"1523"	"0"	"1523"	"0"	"c.1523A>G"	"r.(?)"	"p.(Asn508Ser)"	""
"0001048142"	"00000534"	"90"	"1001"	"0"	"1001"	"0"	"c.1001G>A"	"r.(?)"	"p.(Cys334Tyr)"	"8"
"0001048144"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.(Arg429His)"	""
"0001048145"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.(Arg429His)"	""
"0001048146"	"00000534"	"90"	"671"	"-9"	"671"	"-9"	"c.671-9T>G"	"r.(671_789del)"	"p.(Ile225Leufs*25)"	"5i"
"0001048147"	"00000534"	"90"	"71"	"0"	"71"	"0"	"c.71T>C"	"r.(?)"	"p.(Leu24Pro)"	""
"0001048148"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.(Arg429His)"	""
"0001048155"	"00000534"	"70"	"516"	"0"	"516"	"0"	"c.516A>C"	"r.(?)"	"p.(Glu172Asp)"	""
"0001048156"	"00000534"	"90"	"1433"	"0"	"1433"	"0"	"c.1433C>A"	"r.(?)"	"p.(Ala478Asp)"	""
"0001048157"	"00000534"	"90"	"1424"	"0"	"1424"	"0"	"c.1424T>C"	"r.(?)"	"p.(Phe475Ser)"	""
"0001048158"	"00000534"	"90"	"1494"	"0"	"1494"	"0"	"c.1494G>T"	"r.(?)"	"p.(Leu498Phe)"	""
"0001048159"	"00000534"	"90"	"2"	"0"	"2"	"0"	"c.2T>C"	"r.(2T>C)"	"p.(Met1?)"	""
"0001048160"	"00000534"	"90"	"1298"	"0"	"1298"	"0"	"c.1298T>C"	"r.(?)"	"p.(Leu433Pro)"	""
"0001048175"	"00000534"	"70"	"1538"	"0"	"1538"	"0"	"c.1538T>C"	"r.(?)"	"p.(Leu513Pro)"	""
"0001048197"	"00000534"	"90"	"154"	"0"	"154"	"0"	"c.154T>A"	"r.(?)"	"p.(Trp52Arg)"	""
"0001048198"	"00000534"	"90"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.(Arg429His)"	""
"0001048199"	"00000534"	"90"	"686"	"0"	"686"	"0"	"c.686T>C"	"r.(?)"	"p.(Phe229Ser)"	""
"0001048205"	"00000534"	"90"	"1376"	"0"	"1376"	"0"	"c.1376A>G"	"r.(?)"	"p.(Asn459Ser)"	""
"0001048206"	"00000534"	"90"	"1515"	"0"	"1515"	"0"	"c.1515G>C"	"r.(?)"	"p.(Leu505Phe)"	""
"0001048207"	"00000534"	"90"	"970"	"5"	"970"	"5"	"c.970+5G>A"	"r.spl"	"p.?"	"7i"
"0001048210"	"00000534"	"70"	"766"	"0"	"766"	"0"	"c.766G>T"	"r.(?)"	"p.(Val256Leu)"	""
"0001048327"	"00000534"	"70"	"1376"	"0"	"1376"	"0"	"c.1376A>G"	"r.(?)"	"p.(Asn459Ser)"	""
"0001048340"	"00000534"	"90"	"970"	"5"	"970"	"5"	"c.970+5G>A"	"r.951_970del"	"p.Gln317HisfsTer10"	"7i"
"0001048341"	"00000534"	"70"	"245"	"0"	"245"	"0"	"c.245T>C"	"r.(?)"	"p.(Phe82Ser)"	""
"0001048342"	"00000534"	"70"	"1499"	"0"	"1499"	"0"	"c.1499G>A"	"r.(?)"	"p.(Gly500Asp)"	""
"0001048343"	"00000534"	"70"	"1004"	"0"	"1004"	"0"	"c.1004G>T"	"r.(?)"	"p.(Cys335Phe)"	""
"0001048344"	"00000534"	"70"	"1523"	"0"	"1523"	"0"	"c.1523A>T"	"r.(?)"	"p.(Asn508Ile)"	""
"0001048346"	"00000534"	"70"	"727"	"0"	"727"	"0"	"c.727C>T"	"r.(?)"	"p.(Pro243Ser)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 123
"{{screeningid}}"	"{{variantid}}"
"0000000209"	"0000002840"
"0000000209"	"0000006467"
"0000000209"	"0000006468"
"0000000209"	"0000006469"
"0000000209"	"0000006470"
"0000000209"	"0000006471"
"0000000210"	"0000008518"
"0000000210"	"0000008519"
"0000000210"	"0000008520"
"0000000210"	"0000008521"
"0000000210"	"0000010840"
"0000000210"	"0000014423"
"0000000210"	"0000014425"
"0000000210"	"0000014427"
"0000106373"	"0000171970"
"0000106375"	"0000171971"
"0000106376"	"0000171975"
"0000117096"	"0000187827"
"0000117098"	"0000187864"
"0000117099"	"0000187875"
"0000117100"	"0000187884"
"0000117101"	"0000187889"
"0000117102"	"0000187896"
"0000117103"	"0000187905"
"0000117104"	"0000187910"
"0000117105"	"0000187828"
"0000117106"	"0000187829"
"0000117107"	"0000187830"
"0000117108"	"0000187831"
"0000117109"	"0000187832"
"0000117110"	"0000187833"
"0000117111"	"0000187834"
"0000117112"	"0000187835"
"0000117113"	"0000187836"
"0000117114"	"0000187837"
"0000117115"	"0000187854"
"0000117116"	"0000187855"
"0000117117"	"0000187856"
"0000117118"	"0000187857"
"0000117119"	"0000187858"
"0000117120"	"0000187859"
"0000117121"	"0000187860"
"0000117122"	"0000187861"
"0000117123"	"0000187862"
"0000117124"	"0000187863"
"0000117125"	"0000187865"
"0000117126"	"0000187866"
"0000117127"	"0000187867"
"0000117128"	"0000187868"
"0000117129"	"0000187869"
"0000117130"	"0000187870"
"0000117131"	"0000187871"
"0000117132"	"0000187872"
"0000117133"	"0000187873"
"0000117134"	"0000187874"
"0000117135"	"0000187876"
"0000117136"	"0000187877"
"0000117137"	"0000187878"
"0000117137"	"0000187879"
"0000117138"	"0000187880"
"0000117139"	"0000187881"
"0000117140"	"0000187882"
"0000117141"	"0000187883"
"0000117142"	"0000187885"
"0000117143"	"0000187886"
"0000117144"	"0000187887"
"0000117145"	"0000187888"
"0000117146"	"0000187890"
"0000117147"	"0000187891"
"0000117148"	"0000187892"
"0000117149"	"0000187893"
"0000117150"	"0000187894"
"0000117151"	"0000187895"
"0000117152"	"0000187897"
"0000117153"	"0000187898"
"0000117154"	"0000187899"
"0000117155"	"0000187900"
"0000117156"	"0000187901"
"0000117157"	"0000187902"
"0000117158"	"0000187903"
"0000117159"	"0000187904"
"0000117160"	"0000187906"
"0000117161"	"0000187907"
"0000117164"	"0000187908"
"0000117165"	"0000187909"
"0000117166"	"0000187928"
"0000296181"	"0000652870"
"0000388177"	"0000816621"
"0000434566"	"0000920318"
"0000468323"	"0001048125"
"0000468324"	"0001048126"
"0000468325"	"0001048131"
"0000468327"	"0001048135"
"0000468328"	"0001048136"
"0000468329"	"0001048139"
"0000468330"	"0001048140"
"0000468331"	"0001048142"
"0000468332"	"0001048144"
"0000468333"	"0001048145"
"0000468334"	"0001048146"
"0000468335"	"0001048147"
"0000468336"	"0001048148"
"0000468337"	"0001048155"
"0000468338"	"0001048156"
"0000468339"	"0001048157"
"0000468340"	"0001048158"
"0000468341"	"0001048159"
"0000468342"	"0001048160"
"0000468353"	"0001048175"
"0000468369"	"0001048197"
"0000468370"	"0001048198"
"0000468371"	"0001048199"
"0000468372"	"0001048205"
"0000468373"	"0001048206"
"0000468374"	"0001048207"
"0000468377"	"0001048210"
"0000468493"	"0001048327"
"0000468506"	"0001048340"
"0000468507"	"0001048341"
"0000468508"	"0001048342"
"0000468509"	"0001048343"
"0000468510"	"0001048344"
"0000468511"	"0001048346"