### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CTCF)
# 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}}"
"CTCF"	"CCCTC-binding factor (zinc finger protein)"	"16"	"q21-q22.3"	"unknown"	"NC_000016.9"	"UD_136086422726"	""	"https://www.LOVD.nl/CTCF"	""	"1"	"13723"	"10664"	"604167"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/CTCF_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2023-07-10 10:19:29"	"00006"	"2026-03-19 20:07:46"


## 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}}"
"00005834"	"CTCF"	"transcript variant 1"	"001"	"NM_006565.3"	""	"NP_006556.1"	""	""	""	"-444"	"3497"	"2184"	"67596310"	"67673088"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{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"
"03971"	"MRD21"	"mental retardation, autosomal dominant, type 21 (MRD-21)"	"AD"	"615502"	""	"microcephaly; thin vermilion border; abnormality of the dentition; hypermetropia, strabismus, delayed dentition; feeding difficulties; congenital cardiopathies; cryptorchidism; hypotonia; global developmental delay, intellectual disability; growth delay; short stature"	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2025-11-30 11:56:35"
"05162"	"DD"	"developmental delay (DD)"	""	""	""	""	""	"00006"	"2016-05-10 21:15:54"	"00006"	"2020-05-25 13:52:33"
"05532"	"MRD"	"mental retardation, autosomal dominant (MRD, intellectual disability (IDD))"	""	""	""	"autosomal dominant"	""	"00006"	"2018-12-18 09:20:18"	"00006"	"2018-12-18 09:24:21"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"CTCF"	"03971"
"CTCF"	"05532"


## Individuals ## Do not remove or alter this header ##
## Count = 121
"{{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}}"
"00050577"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050629"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050674"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00231309"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	"0"	""	""	""	"Pat3"
"00231310"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"F"	""	""	""	""	""	""	""	"Pat4"
"00231311"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	""	""	""	""	"Pat5"
"00231312"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	""	""	""	""	"Pat6"
"00231313"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"F"	""	""	""	""	""	""	""	"Pat7"
"00231314"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	""	""	""	""	"Pat8"
"00231315"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	""	""	""	""	"Pat9"
"00231316"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	""	""	""	""	"Pat10"
"00231317"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	""	""	""	""	"Pat11"
"00231318"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"F"	""	""	""	""	""	""	""	"Pat12"
"00231319"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	""	""	""	""	"Pat13"
"00231320"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	""	""	""	""	"Pat14"
"00231321"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	""	""	""	""	"Pat15"
"00231322"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"F"	""	""	""	""	""	""	""	"Pat16"
"00231323"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"F"	""	""	""	""	""	""	""	"Pat17"
"00231324"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	""	""	""	""	"Pat18"
"00231325"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"F"	""	""	""	""	""	""	""	"Pat19"
"00231326"	""	""	""	"3"	""	"02317"	"{PMID:Konrad 2019:31239556}"	"2-generation family, affected twin pair"	"M"	""	""	""	"0"	""	""	""	"Pat20-twin1"
"00231327"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"F"	""	""	""	"0"	""	""	""	"Pat23"
"00231328"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	""	""	""	""	"Pat24"
"00231329"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	""	""	""	""	"Pat25"
"00231330"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	""	""	""	""	"Pat26"
"00231331"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"F"	""	""	""	""	""	""	""	"Pat27"
"00231332"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	""	""	""	""	"Pat28"
"00231333"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	""	""	""	""	"Pat29"
"00231334"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"F"	""	""	""	""	""	""	""	"Pat30"
"00231335"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	""	""	""	""	"Pat31"
"00231336"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	""	""	""	""	"Pat32"
"00231338"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"F"	""	""	""	""	""	""	""	"Pat33"
"00231339"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	""	""	""	""	"Pat34"
"00231340"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	""	""	""	""	"Pat35"
"00231341"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"F"	""	""	""	""	""	""	""	"Pat36"
"00231342"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"F"	""	""	""	""	""	""	""	"Pat37"
"00231343"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	""	""	""	""	"Pat38"
"00231344"	""	""	""	"1"	""	"02317"	"{PMID:Konrad 2019:31239556}"	""	"F"	""	""	""	""	""	""	""	"Pat39"
"00295652"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00315037"	""	""	""	"1"	""	"00006"	"{PMID:Squeo 2020:32170002}"	"analysis 263 cases chromatin-related disorder"	""	""	"Italy"	""	"0"	""	""	""	"GDB1200"
"00320443"	""	""	""	"1"	""	"01164"	""	"prenatal testing"	"?"	"?"	"Germany"	""	"0"	""	""	""	""
"00435330"	""	""	""	"1"	""	"04530"	""	""	"F"	""	"Viet Nam"	""	"0"	""	""	""	""
"00446608"	""	""	""	"1"	""	"01164"	""	""	"F"	"no"	"? (unknown)"	""	"0"	""	""	""	"282574"
"00456495"	""	""	""	"1"	""	"03544"	""	""	"M"	"-"	"- (not applicable)"	""	""	""	""	"white"	""
"00458253"	""	""	""	"1"	""	"03544"	""	""	"F"	"-"	"- (not applicable)"	""	""	""	""	"white"	""
"00468790"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00468791"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00470176"	""	""	""	"1"	""	"03544"	""	""	"M"	"-"	"- (not applicable)"	""	""	""	""	"white"	""
"00470250"	""	""	"00231326"	"1"	""	"00006"	"{PMID:Konrad 2019:31239556}"	"twin sister"	"F"	""	""	""	"0"	""	""	""	"Pat21-twin2"
"00470251"	""	""	"00231326"	"1"	""	"00006"	"{PMID:Konrad 2019:31239556}"	"father"	"M"	""	""	""	"0"	""	""	""	"Pat22"
"00470252"	""	""	""	"1"	""	"00006"	"{PMID:Konrad 2019:31239556}"	""	"M"	""	""	""	"0"	""	""	""	"Pat1"
"00470253"	""	""	""	"1"	""	"00006"	"{PMID:Konrad 2019:31239556}"	""	"F"	""	""	""	"0"	""	""	""	"Pat2"
"00470254"	""	""	""	"1"	""	"00006"	"{PMID:Gregor 2013:23746550}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat1"
"00470255"	""	""	""	"1"	""	"00006"	"{PMID:Gregor 2013:23746550}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat2"
"00470256"	""	""	""	"1"	""	"00006"	"{PMID:Gregor 2013:23746550}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat3"
"00470257"	""	""	""	"1"	""	"00006"	"{PMID:Gregor 2013:23746550}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat4"
"00470258"	""	""	""	"1"	""	"00006"	"{PMID:Bastaki 2017:28619046}"	"3-generation family, 1 affected, unaffected non-carrier parents"	"F"	"yes"	"United Arab Emirates"	""	"0"	""	""	""	"patient"
"00470259"	""	""	""	"1"	""	"00006"	"{PMID:Chen 2019:30893510}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"China"	""	"0"	""	""	""	"Pat1"
"00470260"	""	""	""	"1"	""	"00006"	"{PMID:Chen 2019:30893510}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"China"	""	"0"	""	""	""	"Pat2"
"00470261"	""	""	""	"1"	""	"00006"	"{PMID:Chen 2019:30893510}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"China"	""	"0"	""	""	""	"Pat3"
"00470264"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat1"
"00470265"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2020:33004838}, {PMID:Valverde de Morales 2023:36454652}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"United States"	""	"0"	""	""	""	"Courchesne_V4U6N;Pat2"
"00470266"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat3"
"00470267"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat4"
"00470268"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat5"
"00470269"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat6"
"00470270"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat7"
"00470271"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat8"
"00470272"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat9"
"00470273"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat10"
"00470274"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat11"
"00470275"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat12"
"00470276"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat13"
"00470277"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat14"
"00470278"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat15"
"00470279"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat16"
"00470280"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat17"
"00470281"	""	""	""	"3"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"3-generation family, 3 affected (son, mother, maternal grandmother"	"M"	""	""	""	"0"	""	""	""	"Pat18"
"00470282"	""	""	"00470281"	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"mother"	"F"	""	""	""	"0"	""	""	""	"Pat19"
"00470283"	""	""	"00470281"	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"maternal grandmother"	"F"	""	""	""	"0"	""	""	""	"Pat20"
"00470284"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat21"
"00470285"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat22"
"00470286"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat23"
"00470287"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat24"
"00470288"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat25"
"00470289"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat26"
"00470290"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat27"
"00470291"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat28"
"00470292"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat29"
"00470293"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat30"
"00470294"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat31"
"00470295"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat32"
"00470296"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat33"
"00470297"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat34"
"00470298"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat35"
"00470299"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat36"
"00470300"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat37"
"00470301"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat38"
"00470302"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat39"
"00470303"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat40"
"00470304"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat41"
"00470305"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat42"
"00470306"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat43"
"00470307"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat44"
"00470308"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat45"
"00470309"	""	""	""	"1"	""	"00006"	"{PMID:Valverde de Morales 2023:36454652}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat46"
"00470310"	""	""	""	"1"	""	"00006"	"{PMID:Hori 2017:28848059}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"Japan"	""	"0"	""	""	""	"Pat1"
"00470311"	""	""	""	"1"	""	"00006"	"{PMID:Hori 2017:28848059}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"Japan"	""	"0"	""	""	""	"Pat2"
"00470312"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2020:33004838}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"Belgium"	""	"0"	""	""	""	"Leuven2_63675045"
"00470314"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2020:33004838}"	"patient"	"F"	""	"Sweden"	""	"0"	""	""	""	"Swedish_267-09D"
"00470315"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2020:33004838}"	"2-generation family, 1 affected, carrier mother"	"M"	""	"Sweden"	""	"0"	""	""	""	"Swedish_1209-11D"
"00470316"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2020:33004838}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"Sweden"	""	"0"	""	""	""	"Swedish_2692-11D"
"00470317"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2020:33004838}"	"2-generation family, 1 affected, carrier father"	"M"	""	"United States"	""	"0"	""	""	""	"TASC_211-5234-3"
"00470318"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2020:33004838}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"Czech Republic"	""	"0"	""	""	""	"Czech_PRG047"
"00470319"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2020:33004838}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"Italy"	""	"0"	""	""	""	"Troina2_3862-7531"
"00470320"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2020:33004838}"	"patient"	"M"	""	"Australia"	""	"0"	""	""	""	"Gecz4_47808"
"00470321"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2020:33004838}"	"2-generation family, 1 affected, unaffected non-carrier mother"	"M"	""	"United States"	""	"0"	""	""	""	"SAGE_BK405.03"
"00470322"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2020:33004838}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"United States"	""	"0"	""	""	""	"BCM_9245464"
"00470323"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2020:33004838}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"United States"	""	"0"	""	""	""	"BCM_9229405"
"00470324"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2020:33004838}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"Belgium"	""	"0"	""	""	""	"Antwerp_190102"
"00474577"	""	""	""	"1"	""	"00006"	"{PMID:Nair 2018:30293248}"	"patient"	""	""	"Lebanon"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 121
"{{individualid}}"	"{{diseaseid}}"
"00050577"	"00198"
"00050629"	"00198"
"00050674"	"00198"
"00231309"	"05162"
"00231310"	"05162"
"00231311"	"05162"
"00231312"	"05162"
"00231313"	"05162"
"00231314"	"05162"
"00231315"	"05162"
"00231316"	"05162"
"00231317"	"05162"
"00231318"	"05162"
"00231319"	"05162"
"00231320"	"05162"
"00231321"	"05162"
"00231322"	"05162"
"00231323"	"05162"
"00231324"	"05162"
"00231325"	"05162"
"00231326"	"05162"
"00231327"	"05162"
"00231328"	"05162"
"00231329"	"05162"
"00231330"	"05162"
"00231331"	"05162"
"00231332"	"05162"
"00231333"	"05162"
"00231334"	"05162"
"00231335"	"05162"
"00231336"	"05162"
"00231338"	"05162"
"00231339"	"05162"
"00231340"	"05162"
"00231341"	"05162"
"00231342"	"05162"
"00231343"	"05162"
"00231344"	"05162"
"00295652"	"00198"
"00315037"	"00198"
"00320443"	"03971"
"00435330"	"03971"
"00446608"	"03971"
"00456495"	"00139"
"00458253"	"05611"
"00468790"	"00198"
"00468791"	"00198"
"00470176"	"05611"
"00470250"	"05162"
"00470251"	"00139"
"00470252"	"05162"
"00470253"	"05162"
"00470254"	"00139"
"00470255"	"00139"
"00470256"	"00139"
"00470257"	"00139"
"00470258"	"00139"
"00470259"	"05611"
"00470260"	"05611"
"00470261"	"05611"
"00470264"	"05611"
"00470265"	"05611"
"00470266"	"05611"
"00470267"	"05611"
"00470268"	"05611"
"00470269"	"05611"
"00470270"	"05611"
"00470271"	"05611"
"00470272"	"05611"
"00470273"	"05611"
"00470274"	"05611"
"00470275"	"05611"
"00470276"	"05611"
"00470277"	"05611"
"00470278"	"05611"
"00470279"	"05611"
"00470280"	"05611"
"00470281"	"05611"
"00470282"	"05611"
"00470283"	"05611"
"00470284"	"05611"
"00470285"	"05611"
"00470286"	"05611"
"00470287"	"05611"
"00470288"	"05611"
"00470289"	"05611"
"00470290"	"05611"
"00470291"	"05611"
"00470292"	"05611"
"00470293"	"05611"
"00470294"	"05611"
"00470295"	"05611"
"00470296"	"05611"
"00470297"	"05611"
"00470298"	"05611"
"00470299"	"05611"
"00470300"	"05611"
"00470301"	"05611"
"00470302"	"05611"
"00470303"	"05611"
"00470304"	"05611"
"00470305"	"05611"
"00470306"	"05611"
"00470307"	"05611"
"00470308"	"05611"
"00470309"	"05611"
"00470310"	"05611"
"00470311"	"05611"
"00470312"	"05611"
"00470314"	"05611"
"00470315"	"05611"
"00470316"	"05611"
"00470317"	"05611"
"00470318"	"05611"
"00470319"	"05611"
"00470320"	"05611"
"00470321"	"05611"
"00470322"	"05611"
"00470323"	"05611"
"00470324"	"05611"
"00474577"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03971, 05162, 05532, 05611
## Count = 121
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000037189"	"00198"	"00050577"	"00006"	"Isolated (sporadic)"	""	"cleft palate, micrognathia, pulmonic stenosis, global developmental delay, mild short stature"	""	""	""	""	""	""	""	""	""	""	""	""
"0000037241"	"00198"	"00050629"	"00006"	"Isolated (sporadic)"	""	"bilateral cleft lip and palate, pulmonic stenosis, ventricular septal defect, long palpebral fissure"	""	""	""	""	""	""	""	""	""	""	""	""
"0000037286"	"00198"	"00050674"	"00006"	"Isolated (sporadic)"	""	"gastroesophageal reflux, poor coordination, pes cavus"	""	""	""	""	""	""	""	""	""	""	""	""
"0000173742"	"05162"	"00231309"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173743"	"05162"	"00231310"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173744"	"05162"	"00231311"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173745"	"05162"	"00231312"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173746"	"05162"	"00231313"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173747"	"05162"	"00231314"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173748"	"05162"	"00231315"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173749"	"05162"	"00231316"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173750"	"05162"	"00231317"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173751"	"05162"	"00231318"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173752"	"05162"	"00231319"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173753"	"05162"	"00231320"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173754"	"05162"	"00231321"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173755"	"05162"	"00231322"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173756"	"05162"	"00231323"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173757"	"05162"	"00231324"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173758"	"05162"	"00231325"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173759"	"05162"	"00231326"	"02317"	"Familial"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173761"	"05162"	"00231327"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173762"	"05162"	"00231328"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173763"	"05162"	"00231329"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173764"	"05162"	"00231330"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173765"	"05162"	"00231331"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173766"	"05162"	"00231332"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173767"	"05162"	"00231333"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173768"	"05162"	"00231334"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173769"	"05162"	"00231341"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000173770"	"05162"	"00231342"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"developmental delay"	""
"0000173772"	"05162"	"00231343"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"developmental delay"	""
"0000173773"	"05162"	"00231344"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"developmental delay"	""
"0000223216"	"00198"	"00295652"	"01164"	"Unknown"	""	"Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000238789"	"00198"	"00315037"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"Kabuki syndrome"	"chromatinopathy"	""
"0000242419"	"03971"	"00320443"	"01164"	"Unknown"	""	"ultrasound abnormality: fetal retrognathia, microcephaly"	""	""	""	""	""	""	""	""	""	""	"prenatal"	""
"0000325526"	"03971"	"00435330"	"04530"	"Isolated (sporadic)"	""	"microcephaly, cleft palate, fetal retardation"	""	""	""	""	""	""	""	""	""	"MRD21"	"mental retardation"	""
"0000335808"	"03971"	"00446608"	"01164"	"Isolated (sporadic)"	"00y08m"	"Small for gestational age, Moderate global developmental delay, Protruding ear, Facial asymmetry, Cranial asymmetry, Premature birth"	""	""	""	""	""	""	""	""	""	""	""	""
"0000345003"	"00139"	"00456495"	"03544"	"Familial, autosomal dominant"	""	"HP:0004794, HP:0008676, HP:0000083, HP:0000121, HP:0000023, HP:0008715, HP:0001627, HP:0010307, HP:0004322, HP:0000823, HP:0001249, HP:0000750"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000346689"	"05611"	"00458253"	"03544"	"Isolated (sporadic)"	""	"HP:0000717, HP:0001249, HP:0000271, HP:0000750"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000353943"	"00198"	"00468790"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the nervous system"	""
"0000353944"	"00198"	"00468791"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the nervous system"	""
"0000355321"	"05611"	"00470176"	"03544"	"Isolated (sporadic)"	""	"HP:000098, HP:0000717, HP:0000729, HP:0001513, HP:0002342, HP:0002360, HP:0100710"	""	""	""	""	""	""	""	""	""	"MRD21"	"complex NDD"	""
"0000355394"	"05162"	"00231335"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000355395"	"05162"	"00231336"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000355396"	"05162"	"00231338"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000355397"	"05162"	"00231339"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000355398"	"05162"	"00231340"	"02317"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000355399"	"05162"	"00470250"	"00006"	"Familial, autosomal dominant"	"00y18m"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000355400"	"00139"	"00470251"	"00006"	"Unknown"	"31y"	"see paper; ..., epilepsy after accident, ADHD, reading difficulties, learning difficulties, low IQ"	""	""	""	""	""	""	""	""	""	"MRD21"	"intellectual disability"	""
"0000355401"	"05162"	"00470252"	"00006"	"Isolated (sporadic)"	"19y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000355402"	"05162"	"00470253"	"00006"	"Isolated (sporadic)"	"10y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	"developmental delay"	""
"0000355403"	"00139"	"00470254"	"00006"	"Isolated (sporadic)"	"9y6m"	"see paper; ... birth-40w, weight small for gestational age, length small for gestational age, OFC small for gestational age; <1y-feeding difficulties; weight 20 kg (-2.35SD), height 125.5 cm (-3.15SD), OFC 48.2 cm (-3.51SD); developmental delay, intellectual disability (IQ64); 24m-walk; 4y-first words; no behavioral anomalies; ultrasound brain wide ventricles, plexus cyst; no recurrent infections; hypermetropia, strabism; normal hearing; inguinal hernia; small mouth, prominent incisors, small other teeth, thin upper lip; atrial septum defect, persistent ductus arteriosus, mild aortic coarctation, cleft palate, prominent finger joints, single palmar crease, sacral dimple, camptodactyly V"	""	""	""	""	""	""	""	""	""	"MRD21"	"intellectual disability"	""
"0000355404"	"00139"	"00470255"	"00006"	"Isolated (sporadic)"	"9y"	"see paper; ... birth-34w, weight 2,620 g, length 50 cm, OFC 33 cm; until 7d-feeding difficulties; muscular hypotonia; weight 25.6 kg (-0.96SD), height 129.5 cm (-0.71SD), OFC 49.5 cm (-2.61SD); developmental delay, no intellectual disability (IQ79-86); 18m-walk; >1y6m-first words; easily overstrained; recurrent infections; no hypermetropia; hearing appeared normal; cryptorchidism; pointed nose, thin upper lip; clinodactyly finger V, single palmar crease, dental anomalies"	""	""	""	""	""	""	""	""	""	"MRD21"	"intellectual disability"	""
"0000355405"	"00139"	"00470256"	"00006"	"Isolated (sporadic)"	"3y11m"	"see paper; ... birth-39w, weight 2,990 g, length 54 cm, OFC 34 cm; tube feeding; muscular hypotonia; weight 13.4 kg (-1.15SD), height 100 cm (-1.9SD), OFC 47.5 cm (-2.91SD); developmental delay, severe intellectual disability; 23m-walk; 3y-speech 2 words; autistic behavior; MRI brain normal; no recurrent infections; hypermetropia; normal hearing; cryptorchidism, phimosis; thin lips"	""	""	""	""	""	""	""	""	""	"MRD21"	"intellectual disability"	""
"0000355406"	"00139"	"00470257"	"00006"	"Isolated (sporadic)"	"15y"	"see paper; ... birth-40w, weight 2,900 g, length 49 cm; feeding difficulties; muscular hypotonia; weight 40.5 kg (-1.74SD), height 156 cm (-1.94 SD), OFC 54 cm (-0.84 SD; developmental delay, moderate intellectual disability; 30m-walk; 2y-first words; sleeping disturbances, autistic behavior, temper tantrums; CT brain 1y-dilated left ventricle; no recurrent infections; hypermetropia, strabism; normal hearing; high forehead, hypertelorism, thick eyebrows, long eyelashes, epicanthic folds, low-set posteriorly rotated ears, long philtrum, thin lips; hypertrichosis, sandal gaps, broad 1st toe"	""	""	""	""	""	""	""	""	""	"MRD21"	"intellectual disability"	""
"0000355407"	"00139"	"00470258"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth-26w due to fetal distress, intra-uterine growth retardation; neonatal jaundice, recurrent chest infections, pulmonary hemorrhage, neonatal anemia, septicemia, chronic lung disease, gastroesophageal reflux disease, retinopathy of prematurity; 2y-failure to thrive, dysmorphic features (microbrachycephaly, narrow forehead, mild synophrys, highly arched/thick eyebrows, long eye lashes, deep-seated eyes, microcornea, esotropia, midface retrusion, short nose, columella and philtrum, broad nasal tip, wide anteverted nares, cube shaped lips, prominent incisors, large cupped ears, attached ear lobes), developmental delay; 3y6m-developmentaldelay, speech delay (babble)"	""	""	"03y06m"	""	""	""	""	""	""	"MRD21"	"intellectual disability"	""
"0000355408"	"05611"	"00470259"	"00006"	"Isolated (sporadic)"	"1y7m"	"see paper; ..., birth; at term, weight 2.8 kg (<−1SD), length 48 cm (<−1SD); muscular hypotonia; weight 8.25 kg (<−2SD) , height 76 cm (<−2SD) , OFC 44 cm (<−2SD); developmental delay, intellectual disability, movement delay; 17m-walk; 1y7m-no speech yet; poor eye contact, irritability; no recurrent infections; strabismus; normal hearing; no urogenital anomalies; 1y7m-no teeth development; low set ears, cleft palate, upslanting palpebral fissures, unique eyebrows pattern, flat malar bone, micrognathia; 11 rib pairs; palmar creases"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355409"	"05611"	"00470260"	"00006"	"Isolated (sporadic)"	"8y7m"	"see paper; ..., birth; at term, weight 2.65 kg (<−1SD), length 50 cm (normal); muscular hypotonia (childhood); weight 17.0 kg (<−2SD) , height 119.8 cm (<−3SD) , OFC 48.2 cm (<−2SD); developmental delay, intellectual disability (IQ71), movement delay, memory deficient, unable to jump with both feet; 19m-walk; 12m-first words; no behavioral anomalies; MRI brain normal; recurrent infections; strabismus; normal hearing; no urogenital anomalies; hypodontia, abnormal morphology of incisor, carious teeth; long eyelashes, unique eyebrows pattern, deep set eyes, upslanting palpebral fissures, strabismus, depressed nasal bridge, thin lips, flat malar bone, micrognathia; 12 rib pairs; 2y bone age delay"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355410"	"05611"	"00470261"	"00006"	"Isolated (sporadic)"	"7y11m"	"see paper; ..., birth; -39w, weight 1.9 kg (<−3SD), length 45 cm (<−3SD); no muscular hypotonia; weight 18 kg (<−2SD), height 120.3 cm (<−3SD), OFC 47.5 cm (<−3SD); developmental delay, intellectual disability, movement delay, memory deficit; <16m-walk; 24m-first words; sensitive, attention deficit, hyperactivity; CT brain normal; no recurrent infections; myopia; normal hearing; no urogenital anomalies; hypodontia, caries; widely spaced eye, depressed nasal bridge, upslanting palpebral fissures, flat malar bone, micrognathia; 12 rib pairs; persistent patent ductus arteriosus (8y-repaired)"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355413"	"05611"	"00470264"	"00006"	"Isolated (sporadic)"	"19y"	"see paper; ..., no prenatal growth anomalies; birth 38w; normal birth weight; 7m-sit; 15m-walk; 21m-first word; 36m-first sentence; motor delay; speech delay; ADHD, oppositional, compulsive and impulsive; no autism; intellectual disability, developmental delay; no seizures; MRI normal; headaches; sleep problems; special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; strabismus; no cleft palate/no palatal anomalies; no cardiac defect; left dysplastic kidney; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; midline is off; otitits"	"3m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355414"	"05611"	"00470265"	"00006"	"Isolated (sporadic)"	"18y"	"see paper; ..., no prenatal growth anomalies; birth 39w; normal birth weight; 6m-sit; 14m-walk; 13m-first word; 48m-first sentence; motor delay; speech delay; aggressive behavior; destructive behavior; autism; intellectual disability, developmental delay; seizures; no hypotonia; MRI normal; EEG anomalies; sleep problems, wakes frequently; special education; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; musculoskeletal anomalies (no details; no plagiocephaly; no single palmar crease; no integumentary; tooth abscesses, missing adult teeth; otitits"	"1y"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355415"	"05611"	"00470266"	"00006"	"Isolated (sporadic)"	"22y"	"see paper; ..., no prenatal growth anomalies; birth 39w; normal birth weight; 24m-sit; m-walk; motor delay; speech delay; no behavioural anomalies; autism; intellectual disability, developmental delay; seizures; hypotonia; MRI normal; loss of balance; sleep problems; special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; cryptorchidism; tight hamstrings, spinal fusion surgery, genu valgum, spasticity in lower limbs; no plagiocephaly; no single palmar crease; no integumentary; impacted lower molars; impetigo, otitis"	"3m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355416"	"05611"	"00470267"	"00006"	"Unknown"	"3y"	"see paper; ..., prenatal microcephaly; birth 33w6d; premature birth; low birth weight (<2500g); oligohydramnios; 10m-sit; 18m-walk; 3y-first sentence; motor delay; speech delay; difficulty regulating emotions; no autism; intellectual disability, developmental delay; no seizures; hypotonia; MRI normal; sleep problems, wakes frequently; special education; feeding difficulties/failure to thrive; constipation; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections"	"3m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355417"	"05611"	"00470268"	"00006"	"Isolated (sporadic)"	"6y"	"see paper; ..., intra-uterine growth retardation; birth 33w; premature birth; preeclampsia; 12m-sit; 36m-walk; 24m-first word; motor delay; speech delay; self harming behaviors; autism; intellectual disability, developmental delay; seizures; no hypotonia; MRI normal; EEG normal; sleep problems; special education; feeding difficulties/failure to thrive; constipation, GERD; bilateral hearing loss; normal vision; no cleft palate/no palatal anomalies; arrhythmia, atrial septal defect; no urogenital anomalies; hip dysplasia, scoliosis; no plagiocephaly; no single palmar crease; no integumentary; teeth anomalies (no details; no recurrent infections"	"5m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355418"	"05611"	"00470269"	"00006"	"Isolated (sporadic)"	"3y"	"see paper; ..., no prenatal growth anomalies; birth 40w; normal birth weight; 8m-sit; 18m-walk; motor delay; no speech delay; no behavioural anomalies; autism; intellectual disability, developmental delay; no seizures; no hypotonia; EEG normal; loss of balance; sleep problems, wakes frequently; no special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; bilateral hearing loss; vision abnormalities; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; crowded teeth; recurrent infections"	"3m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355419"	"05611"	"00470270"	"00006"	"Isolated (sporadic)"	"15y"	"see paper; ..., intra-uterine growth retardation; birth 34w; premature birth; low birth weight (<2500g); placental hematoma; 9m-sit; 36m-walk; 10y-first sentence; motor delay; speech delay; no behavioural anomalies; autism; intellectual disability, developmental delay; seizures; hypotonia; MRI normal; no sleep problems; special education; no feeding difficulties/no failure to thrive; constipation; no hearing loss; strabismus, wears glasses; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; scoliosis; no plagiocephaly; no integumentary; normal teeth; no recurrent infections"	"6m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355420"	"05611"	"00470271"	"00006"	"Isolated (sporadic)"	"10y"	"see paper; ..., no prenatal growth anomalies; birth 38w5d; 5m-sit; 15m-walk; motor delay; speech delay; ADHD; autism; intellectual disability, developmental delay; no seizures; hypotonia; sleep problems, difficulty falling asleep; homeschool; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; strabismus; cleft palate; no cardiac defect; no urogenital anomalies; musculoskeletal anomalies (no details; no plagiocephaly; single palmar crease; no integumentary; normal teeth; impetigo, otitis"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355421"	"05611"	"00470272"	"00006"	"Isolated (sporadic)"	"15y"	"see paper; ..., no prenatal growth anomalies; birth 36w; premature birth; normal birth weight; single umbilical artery; oligohydramnios; microcephaly; 15m-sit; 42m-walk; 24m-first word; 48m-first sentence; motor delay; speech delay; Tourett\'s; autism; intellectual disability, developmental delay; no seizures; hypotonia; MRI mild hypoplasia of C1 ring; headaches; sleep problems, difficulty falling asleep and wakes frequently; special education; no feeding difficulties/no failure to thrive; constipation; bilateral sensorineural hearing loss; wears glasses; small palate; no cardiac defect; missing left kidney, dysplastic right kidney; bilateral club feet, poor bone density, long bone fractures, vertebral compression fractures, osteopenia, talipes; no plagiocephaly; no single palmar crease; hyperkeratosis palms and soles; missing some permanent teeth; teeth in the wrong place; no recurrent infections"	"0m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355422"	"05611"	"00470273"	"00006"	"Isolated (sporadic)"	"2y"	"see paper; ..., intra-uterine growth retardation; birth 33w6d; premature birth; low birth weight (<2500g); single umbilical artery; amnion band, preterm labor due to pyelonephritis; 12m-sit; m-walk; 24m-first word; motor delay; speech delay; no stranger anxiety; no autism; intellectual disability, developmental delay; no seizures; hypotonia; loss of balance; no sleep problems; special education; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; bilateral hearing loss; normal vision; Pierre Robin sequence; no cardiac defect; urinary reflux and low kidney function; hypermobile; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections"	"2m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355423"	"05611"	"00470274"	"00006"	"Isolated (sporadic)"	"3y"	"see paper; ..., intra-uterine growth retardation; birth 34w1d; premature birth; low birth weight (<2500g); low movement; 10m-sit; 16m-walk; 15m-first word; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; EEG normal; no sleep problems; no special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; gait abnormal, Calcaneovalgus deformity; plagiocephaly; no single palmar crease; ectodermal dysplasia; conical shaped teeth; no recurrent infections"	"4m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355424"	"05611"	"00470275"	"00006"	"Unknown"	"4y"	"see paper; ..., prenatal growth anomalies; birth 38w6d; microcephaly; 12m-sit; 22m-walk; no speech; motor delay; no speech; no behavioural anomalies; autism; intellectual disability, developmental delay; no seizures; hypotonia; MRI normal; EEG normal; sleep problems, wakes frequently; special education; feeding difficulties/failure to thrive; laryngomalacia, constipation, tube feeds; no hearing loss; vision abnormalities; no cleft palate/no palatal anomalies; cardiac defect (no details); no urogenital anomalies; Serial casting, tenotomy, talipes; plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections"	"2m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355425"	"05611"	"00470276"	"00006"	"Isolated (sporadic)"	"4y"	"see paper; ..., intra-uterine growth retardation; birth 37w; low birth weight (<2500g); oligohydramnios, low movement; 8m-sit; 14m-walk; 18m-first word; 36m-first sentence; no motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; MRI grey matter heterotropia; no sleep problems; feeding difficulties/failure to thrive; tube feeds; hearing loss; normal vision; no cleft palate/no palatal anomalies; no; no urogenital anomalies; musculoskeletal anomalies (no details; no plagiocephaly; no single palmar crease; no integumentary; abnormal decay, many cavitiies; no recurrent infections"	"utero"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355426"	"05611"	"00470277"	"00006"	"Isolated (sporadic)"	"2y"	"see paper; ..., intra-uterine growth retardation; birth 36w4d; premature birth; low birth weight (<2500g); polyhydramnios; 8m-sit; 16m-walk; 18m-first word; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; hypotonia; no sleep problems; feeding difficulties/failure to thrive, dysphagia; tube feeds; no hearing loss; normal vision; cleft palate; pink tetralogy of Fallot; hidden penis; no musculoskeletal anomalies; plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections"	"utero"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355427"	"05611"	"00470278"	"00006"	"Isolated (sporadic)"	"1y"	"see paper; ..., intra-uterine growth retardation; birth 40w; normal birth weight; 12m-sit; m-walk; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; hypotonia; loss of balance; sleep problems, wakes frequently; feeding difficulties/failure to thrive; no gastro-intestinal problems; complete bilateral hearing loss; droopy right eye, Jaw Winking Syndrome; cleft palate; cardiac defect (no details); cryptorchidism; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections"	"6m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355428"	"05611"	"00470279"	"00006"	"Isolated (sporadic)"	"7y"	"see paper; ..., intra-uterine growth retardation; birth 36w; premature birth; low birth weight (<2500g); oligohydramnios; microcephaly; 9m-sit; 12m-walk; 18m-first word; 48m-first sentence; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; no sleep problems; special education; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; wears glasses; no cleft palate/no palatal anomalies; no cardiac defect; chordee; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; teeth came in at a weird pattern. Had an anterior cross bite and narrow arch; no recurrent infections"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355429"	"05611"	"00470280"	"00006"	"Isolated (sporadic)"	"4y"	"see paper; ..., no prenatal growth anomalies; birth 38w; normal birth weight; 11m-sit; 25m-walk; 48m-first word; motor delay; speech delay; no behavioural anomalies; autism; intellectual disability, developmental delay; no seizures; no hypotonia; MRI normal; sleep problems; special education; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; amblyopia; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections"	"6m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355430"	"05611"	"00470281"	"00006"	"Familial, autosomal dominant"	"6y"	"see paper; ..., intra-uterine growth retardation; birth 33w4d; premature birth; low birth weight (<2500g); microcephaly; motor delay; speech delay; sterotypies, easily frustrated; autism; intellectual disability, developmental delay; no seizures; no hypotonia; MRI discrete enlargement of the occipital horns associated with moderate white matter deep posterior periventricular hypersignals; sleep problems, wakes frequently; special education; no feeding difficulties/no failure to thrive; GERD; no hearing loss; myopia, astigmatism; no cleft palate/no palatal anomalies; no cardiac defect; cryptorchidism and phimosis; valgus flat feet, needs orthotics to walk; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; otitits"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355431"	"05611"	"00470282"	"00006"	"Familial, autosomal dominant"	"39y"	"see paper; ..., motor delay; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; no sleep problems; \"learning difficulties in school\"; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; wears glasses; no cleft palate/no palatal anomalies; no cardiac defect; solitary kidney; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355432"	"05611"	"00470283"	"00006"	"Unknown"	"62y"	"see paper; ..., walking difficult due to hip dysplasia; motor delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; no sleep problems; \"learning difficulties in school\"; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; hip dysplasia; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355433"	"05611"	"00470284"	"00006"	"Isolated (sporadic)"	"1y"	"see paper; ..., intra-uterine growth retardation; birth 38.5w; low birth weight (<2500g); subchorionic hematoma; 10m-sit; 15m-walk; 14m-first word; motor delay; speech delay; behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; hypotonia; no sleep problems; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; bladder reflux; clinodactyly; no plagiocephaly; single palmar crease; no integumentary; delayed dentition; no recurrent infections"	"3m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355434"	"05611"	"00470285"	"00006"	"Isolated (sporadic)"	"3y"	"see paper; ..., no prenatal growth anomalies; birth 37w4d; normal birth weight; low movement; 9m-sit; 18m-walk; 12m-first word; 30m-first sentence; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; no sleep problems; special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; single palmar crease; no integumentary; normal teeth; no recurrent infections"	"6m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355435"	"05611"	"00470286"	"00006"	"Isolated (sporadic)"	"17y"	"see paper; ..., intra-uterine growth retardation; birth 32w; premature birth; low birth weight (<2500g); single umbilical artery; preeclampsia; microcephaly; motor delay; speech delay; behavioural anomalies; no autism; intellectual disability, developmental delay; seizures; no hypotonia; loss of balance, cerebral palsy; no sleep problems; special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; cleft palate; no cardiac defect; no urogenital anomalies; kyphosis; no plagiocephaly; single palmar crease; no integumentary; normal teeth; no recurrent infections"	"<0d"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355436"	"05611"	"00470287"	"00006"	"Isolated (sporadic)"	"8y"	"see paper; ..., no prenatal growth anomalies; birth 39w; low birth weight (<2500g); microcephaly; 60m-first sentence; motor delay; speech delay; ADHD, aggression, odd; no autism; intellectual disability, developmental delay; no seizures; hypotonia; loss of balance; sleep problems, difficulty falling asleep and wakes frequently; behavior; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; strabismus, astigmatism; cleft palate; no cardiac defect; no urogenital anomalies; scoliosis; no plagiocephaly; no single palmar crease; no integumentary; Cavities and caps on almost all teeth; no recurrent infections"	"6m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355437"	"05611"	"00470288"	"00006"	"Isolated (sporadic)"	"10y"	"see paper; ..., no prenatal growth anomalies; birth 37w2d; normal birth weight; 9m-sit; 19m-walk; 24m-first word; 32m-first sentence; 2m-failure to thrive; motor delay; speech delay; ADHD, tantrum, emotional regulation anxiety; no autism; intellectual disability, developmental delay; no seizures; hypotonia; sleep problems, wakes frequently and is an early riser; special education; feeding difficulties/failure to thrive; GERD; no hearing loss; pseudostrabismus; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; severe hypdontia, missing 16 permanent teeth uneven enamel, discoloration; no recurrent infections"	"2m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355438"	"05611"	"00470289"	"00006"	"Isolated (sporadic)"	"2y"	"see paper; ..., no prenatal growth anomalies; birth 39w; normal birth weight; 8m-sit; 13m-walk; 13m-first word; 2m-seizure; no motor delay; no speech delay; no behavioural anomalies; no autism; no intellectual disability, no developmental delay; seizures; hypotonia; MRI normal; EEG anomalies; sleep problems, wakes frequently; no special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; integumentary (no details); crowded teeth, came little later than expected; no recurrent infections"	"2m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355439"	"05611"	"00470290"	"00006"	"Isolated (sporadic)"	"23y"	"see paper; ..., no prenatal growth anomalies; birth 41w; normal birth weight; 9m-sit; 16m-walk; autism; intellectual disability, developmental delay; no seizures; no hypotonia; loss of balance; sleep problems, difficulty falling asleep; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; bilateral hearing loss; Duane\'s retraction syndrome; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; musculoskeletal anomalies (no details; no plagiocephaly; no single palmar crease; eczema; teeth anomalies (no details; no recurrent infections"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355440"	"05611"	"00470291"	"00006"	"Isolated (sporadic)"	"17y"	"see paper; ..., no prenatal growth anomalies; birth 38w; normal birth weight; 8.5m-sit; 16m-walk; 12m-first word; 24m-first sentence; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; hypotonia; sleep problems, difficulty falling asleep and is an early riser; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; astigmatism, wears glasses; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; kyphosis, scoliosis, tight hamstrings; no plagiocephaly; no single palmar crease; no integumentary; Dentofacial disproportion, hyperdontia; no recurrent infections"	"6m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355441"	"05611"	"00470292"	"00006"	"Isolated (sporadic)"	"1.7y"	"see paper; ..., intra-uterine growth retardation; birth 37w; low birth weight (<2500g); 9m-sit; 18m-walk; 18m-first word; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; sleep problems, wakes frequently; special education; no gastro-intestinal problems; no hearing loss; strabismus; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; dense teeth; no recurrent infections"	"4m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355442"	"05611"	"00470293"	"00006"	"Isolated (sporadic)"	"8y"	"see paper; ..., intra-uterine growth retardation; birth 30w; oligohydramnios; 9m-sit; 18m-walk; 12m-first word; 30m-first sentence; motor delay; speech delay; behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; sleep problems, difficulty falling asleep; special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; hearing loss;  nystagmus, wears glasses; high arched palate; no cardiac defect; no urogenital anomalies; scoliosis; no plagiocephaly; no single palmar crease; no integumentary; teeth growing before baby teeth fall off; no recurrent infections"	"6m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355443"	"05611"	"00470294"	"00006"	"Isolated (sporadic)"	"34y"	"see paper; ..., prenatal growth anomalies; birth 23w; premature birth; normal birth weight; bleeding; behavioural anomalies; no autism; no intellectual disability, no developmental delay; no seizures; no hypotonia; no sleep problems; feeding difficulties/failure to thrive, dysphagia;  pain; no hearing loss; normal vision; no cleft palate/no palatal anomalies; atrial septal defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355444"	"05611"	"00470295"	"00006"	"Isolated (sporadic)"	"7y"	"see paper; ..., normal birth weight; behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; mri anomalies; no sleep problems; feeding difficulties/failure to thrive, dysphagia; dysphagia; bilateral hearing loss; hypermetropia; no cleft palate/no palatal anomalies; stenosis of pulmonary valve, dilated ascending aorta; no urogenital anomalies; kyphosis; no plagiocephaly; no single palmar crease; no integumentary; small teeth, ectopic teeth; no recurrent infections"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355445"	"05611"	"00470296"	"00006"	"Isolated (sporadic)"	"2y"	"see paper; ..., no prenatal growth anomalies; birth 38w; low birth weight (<2500g); \"aged placenta\"; 6m-sit; 1y-walk; 11m-first word; 18m-first sentence; speech delay; no behavioural anomalies; no autism; no intellectual disability, no developmental delay; seizures; no hypotonia; no sleep problems; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; hypermetropia; cleft palate; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; missing teeth, abnormal shape; no recurrent infections"	"1d"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355446"	"05611"	"00470297"	"00006"	"Isolated (sporadic)"	"9y"	"see paper; ..., no prenatal growth anomalies; birth 40w3d; normal birth weight; behavioural anomalies (possibly ADD); no autism; intellectual disability, developmental delay; no seizures; hypotonia; no sleep problems; no feeding difficulties/no failure to thrive; GERD; one-sided hearing loss; estropia, wears glasses; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; abnormal gait; no plagiocephaly; no single palmar crease; no integumentary; Crowded and new ones growing directly behind baby teeth that havent fallen out; no recurrent infections"	"1y"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355447"	"05611"	"00470298"	"00006"	"Unknown"	"9y"	"see paper; ..., no prenatal growth anomalies; birth 40w; normal birth weight; cord wrapped around neck; microcephaly; 7m-sit; 13m-walk; 13m-first word; 36m-first sentence; no motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; seizures; no hypotonia; MRI normal; EEG normal; no sleep problems; feeding difficulties/failure to thrive; constripation; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; 2y-spermatocele; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; crowded teeth, large teeth, ectopic teeth; no recurrent infections"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355448"	"05611"	"00470299"	"00006"	"Isolated (sporadic)"	"4y"	"see paper; ..., smaal for gestational age; birth 38w; normal birth weight; polyhydramnios; 10m-sit; 18m-walk; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; hypotonia; mri anomalies; EEG normal; loss of balance; no sleep problems; special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; one-sided hearing loss; hypermetropia, wears glasses; no cleft palate/no palatal anomalies; no cardiac defect; cryptorchidism; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; otitits"	"4m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355449"	"05611"	"00470300"	"00006"	"Isolated (sporadic)"	"4y"	"see paper; ..., no prenatal growth anomalies; birth 38w; normal birth weight; 6m-sit; 12m-walk; 15m-first word; 36m-first sentence; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; MRI normal; sleep problems, difficulty falling asleep; special education; feeding difficulties/failure to thrive; constipation; hearing loss, bilateral congenital conductive; one sided hypermetropia; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections"	"6m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355450"	"05611"	"00470301"	"00006"	"Isolated (sporadic)"	"9y"	"see paper; ..., intra-uterine growth retardation; birth 39w; normal birth weight; 6m-sit; 13m-walk; 10m-first word; no motor delay; no speech delay; no behavioural anomalies; no autism; no intellectual disability, no developmental delay; no seizures; no hypotonia; sleep problems, difficulty falling asleep; no special education; feeding difficulties/failure to thrive, need tube; no gastro-intestinal problems; no hearing loss; normal vision; cleft palate; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; single palmar crease; eczema; Missing a permanent tooth, crowded teeth, weak enamel; no recurrent infections"	"1d"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355451"	"05611"	"00470302"	"00006"	"Isolated (sporadic)"	"9y"	"see paper; ..., no prenatal growth anomalies; birth 39w4d; normal birth weight; 12m-sit; 18m-walk; 18m-first word; 36m-first sentence; motor delay; speech delay; anxiety, does not respond well to change; no autism; intellectual disability, developmental delay; no seizures; hypotonia; sleep problems, wakes frequently; special education; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; cataracts, glaucoma; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; not have the correct amount of adult teeth. Several of the adult teeth that have grown in are very crooked and turned.; no recurrent infections"	"9m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355452"	"05611"	"00470303"	"00006"	"Isolated (sporadic)"	"10y"	"see paper; ..., intra-uterine growth retardation, no prenatal growth anomaliesse hypoplasic, NT; birth 40w; normal birth weight; 6m-sit; 18m-walk; 9y-first sentence; no motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; no sleep problems; special education; feeding difficulties/failure to thrive; tube feeds; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; camptodactly; no plagiocephaly; no single palmar crease; no integumentary; persistance of deciduous teeth requirring intervention, delayed definitive teeth; no recurrent infections"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355453"	"05611"	"00470304"	"00006"	"Isolated (sporadic)"	"17y"	"see paper; ..., intra-uterine growth retardation; birth 37w; normal birth weight; oligohydramnios; 18m-walk; 5y-first word; motor delay; ADHD and oppositional behaviors; no autism; intellectual disability, developmental delay; seizures; no hypotonia; normal; EEG abnormalities left temporal region; no sleep problems; feeding difficulties/failure to thrive, due to cleft palate; no gastro-intestinal problems; no hearing loss; normal vision; cleft palate; no cardiac defect; no urogenital anomalies; dolichostenomelia, scoliosis, pectus incavatum; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355454"	"05611"	"00470305"	"00006"	"Isolated (sporadic)"	"7y"	"see paper; ..., no prenatal growth anomalies; birth 34w3d; premature birth; low birth weight (<2500g); 2y-walk; motor delay; speech delay; aggression, self injury; autism; intellectual disability, developmental delay; seizures; hypotonia; MRI decreased size of minimally prominent lateral ventricles, decreased size of minimall prominent third ventricle. Decreased size of minimally prominent extra‐axial CSF spaces, periventricular signal abnormality compatible with gliosis, cyst at the caudal thalamic groove; loss of balance; sleep problems, falling asleep, melatonin; special education; feeding difficulties/failure to thrive, due to ASD, jaw weakness; no gastro-intestinal problems; no hearing loss; vision abnormalities; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; yes, tapered fingertips, broad 3rd and 4th digits; no plagiocephaly; single palmar crease; no integumentary; widely spaced; no recurrent infections"	"14d"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355455"	"05611"	"00470306"	"00006"	"Isolated (sporadic)"	"15y"	"see paper; ..., no prenatal growth anomalies; birth 38w4d; normal birth weight; polyhydramnios; 1m-sit; >2y-walk; 2y6m-first word, 3y-first sentence; motor delay; speech delay; ADHD, self harming behaviors, high anxiety; no autism; moderate intellectual disability, developmental delay; seizures; no hypotonia; normal; EEG normal; \"clumsy\", diagnosed with cortical dysplasia, loss of balance; sleep problems, difficulty falling asleep; special education; feeding difficulties/failure to thrive, needed tube; constipation, IBS; no hearing loss; \"sticky eyes\", blocked tear ducts, poor vision; no cleft palate/no palatal anomalies; no cardiac defect; chronic kidney disease, one kidney removed; pes cavus with clawing of the toes and a very high arch; no plagiocephaly; no single palmar crease; freckles in groin, cafe au lait spots, spider veins; overcrowded, missing adult teeth; bronchiectasis; otitis, respiratory infections, diagnosed with primary immune deficiency; Wilm\'s tumor"	"6m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355456"	"05611"	"00470307"	"00006"	"Isolated (sporadic)"	"2y"	"see paper; ..., no prenatal growth anomalies; birth 39w2d; normal birth weight; 9m-sit; 20m-walk; 21m-first word; motor delay; speech delay; stereotypies; autistic features; intellectual disability, developmental delay; no seizures; hypotonia; no sleep problems; feeding difficulties/failure to thrive; no hearing loss; strabismus; no cleft palate/no palatal anomalies; cryptorchidism; no integumentary; normal teeth;"	"6m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355457"	"05611"	"00470308"	"00006"	"Isolated (sporadic)"	"4y"	"see paper; ..., smaal for gestational age; birth at term; low birth weight (<2500g); microcephaly; 12m-walk; no speech; motor delay; speech delay; autism; intellectual disability, developmental delay; seizures; no hypotonia; MRI small nonenhancing foci of hyperintense T2/FLAIR periventricular white matter signal abnormality is suspicious for periventricular leukomalacia; no sleep problems; special education; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no urogenital anomalies; no musculoskeletal anomalies; no integumentary; normal teeth;"	"3y6m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355458"	"05611"	"00470309"	"00006"	"Isolated (sporadic)"	"4y"	"see paper; ..., no prenatal growth anomalies; birth 41w1d; normal birth weight; cord around neck; 15m-sit; 25m-walk; >2ym-first word; motor delay; speech delay; ADHD; no autism; no seizures; hypotonia; no sleep problems; special education; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; unilateral hearing loss; microphthalmia, strabismus; no cleft palate/no palatal anomalies; PDA; no urogenital anomalies; no musculoskeletal anomalies; normal teeth; 10m-nephroblastoma"	"1y6m"	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355459"	"05611"	"00470310"	"00006"	"Isolated (sporadic)"	"04y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	""	""
"0000355460"	"05611"	"00470311"	"00006"	"Isolated (sporadic)"	"06y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MRD21"	""	""
"0000355461"	"05611"	"00470312"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., no feeding difficulties; no muscular hypotonia; mild intellectual disability; autism spectrum disorder, anxiety; retrocerebellar cyst; no eye anomalies; no congenital heart disease; delayed motor development, attention-deficit/hyperactivity disorder"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355463"	"05611"	"00470314"	"00006"	"Unknown"	"17y"	"see paper; ..., birth 36w; mild feeding difficulties neonatal period; no muscular hypotonia; develomental delay, intellectual disability; autistic behavior, attention-deficit/hyperactivity disorder; no eye anomalies; no urogenital anomalies; hypotelorism, thin lips, broad nose, upslanting palpebral fissures.; atrial septum defect; slanting shoulders. single palmar crease, fetal finger pads, long slender fingers, proximal insertion of the thumbs. sandal gap. valgus feet, lack of 9 teeth, recurrent otitis media"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355464"	"05611"	"00470315"	"00006"	"Unknown"	"16y"	"see paper; ..., birth 38w; no feeding difficulties; no muscular hypotonia; develomental delay, intellectual disability; attention-deficit/hyperactivity disorder; no brain anomalies; strabismus; no urogenital anomalies; full lower lip, large nose, prognathism; no congenital heart disease; tonsillectomy due to hypertrophy, constipation, coccygodynia, partial epilepsy with secondary generalization,"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355465"	"05611"	"00470316"	"00006"	"Isolated (sporadic)"	"9y"	"see paper; ..., birth 40w; mild feeding difficulties neonatal period; muscular hypotonia; develomental delay, intellectual disability; autistic behavior, attention-deficit/hyperactivity disorder; strabismus; no urogenital anomalies; flat face, prognathism, downslanting shoulders, thin upper lip, short philtrum, upslanting palpebral fissures, broad nose; no congenital heart disease; minor cleft palate, recurrent otitis media, constipation. fine and thin habitus."	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355466"	"05611"	"00470317"	"00006"	"Unknown"	"56m"	"see paper; ..., no develomental delay, intellectual disability; autism spectrum disorder; no seizures, no regression"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355467"	"05611"	"00470318"	"00006"	"Isolated (sporadic)"	"15y"	"see paper; ..., birth 39w+6d; feeding difficulties; muscular hypotonia; develomental delay, intellectual disability; no behavioral anomalies; wider ventricles due to atrophy, periventricular glial changes, enlarged subarachnoid space due to atrophy; strabismus; no urogenital anomalies; triangular elongated face, tall bulging forehead, deep-set eyes, long pear-shaped nose, long smooth philtrum, thin upper lip, thick folded lower lip, long tongue, arched palate, prominent chin with central dimple.; no congenital heart disease; short stature, hypotrophy, barrel-shaped chest, proportional limbs, limited supination due to radioulnar synostosis, long hands, long, thin fingers, simple palmar creases, transverse palmar crease in the right palm, long slats, partial syndactyly ii, iii, hypoplastic 3rd toe, 2nd toe overlaps the 3rd toe. gastro-esophageal reflux, moderate combined hearing impairment, radioulnar synostosis, coxa valga, hip dysplasia, spina bifida s1"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355468"	"05611"	"00470319"	"00006"	"Isolated (sporadic)"	"11y10m"	"see paper; ..., birth 39w; feeding difficulties; muscular hypotonia; develomental delay, intellectual disability; nos emotional disorder; increased left cerebral ventricle, with slight highlighting of convexity sulci. lower cerebellar vermis was hypotrophic with a mild hypoplasia of left cerebellar hemisphere; hypermetropia, astigmatism; no urogenital anomalies; hypertelorism, squint, synophris, wide nasal tip with anteverted nares, poorly shaped philtrum, prognathism.; no congenital heart disease; tapered fingers, minimal 2nd-3rd toe cutaneous syndactyly with 2nd toe longer that 1st toe, joint laxity, mobile kyphoscoliosis"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355469"	"05611"	"00470320"	"00006"	"Unknown"	""	"see paper; ..., birth 35w; feeding difficulties; muscular hypotonia; develomental delay, intellectual disability; swallow difficulty; no brain anomalies; bilateral strabismus; microcephaly, bilateral strabismus; hypotonia, g-i reflux"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355470"	"05611"	"00470321"	"00006"	"Unknown"	""	"see paper; ..., autism spectrum disorder; proband also has gastrointestinal challenges."	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355471"	"05611"	"00470322"	"00006"	"Isolated (sporadic)"	"19y"	"see paper; ..., no feeding difficulties; develomental delay, intellectual disability; no brain anomalies; bilateral ptosis, hyperopic astigmatism; facial dysmorphism; dysmorphic features (bilateral ear tags, unfurled ears with deficient helices, and narrow palpebral fissures), eye anomalies (bilateral ptosis, hyperopic astigmatism), and limb anomalies (hammertoes and camptodactyly bilaterally)."	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355472"	"05611"	"00470323"	"00006"	"Isolated (sporadic)"	"10y"	"see paper; ..., no feeding difficulties; muscular hypotonia; develomental delay, intellectual disability; no brain anomalies; vision loss (refractory error); facial dysmorphism; delayed motor milestones, delayed speech, intellectual disability, hypotonia, triangular face, dysmorphic features, short stature, mild hyperextensibility, failure to thrive, vision loss (refractory error), delayed bone age and a history of intrauterine growth restriction."	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000355473"	"05611"	"00470324"	"00006"	"Isolated (sporadic)"	"8m"	"see paper; ..., birth 38w; feeding difficulties; muscular hypotonia; develomental delay, intellectual disability; irritable infant, delayed eye contact/ delayed fixing and following; small periventricular cyst next to left lateral ventricle, otherwise normal; no eye anomalies; no urogenital anomalies; triangular face, thin upper lip and smooth philtrum, high arched palate, microcephaly; no congenital heart disease; rocker bottom feet, abnormal plantar and palmar creases. neurological abnormalities: axial hypotonia and peripheral hypertonia"	""	""	""	""	""	""	""	""	""	"MRD21"	"neurodevelopmental disorder"	""
"0000359369"	"00198"	"00474577"	"00006"	"Unknown"	""	"developmental delay; intellectual disability; microcephaly; short stature (Neurological)"	""	""	""	""	""	""	""	""	""	"Mental retardation type 21"	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 121
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000050522"	"00050577"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050574"	"00050629"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050619"	"00050674"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000232406"	"00231309"	"1"	"02317"	"02317"	"2019-04-30 10:52:36"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232407"	"00231310"	"1"	"02317"	"02317"	"2019-04-30 11:00:05"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232408"	"00231311"	"1"	"02317"	"02317"	"2019-04-30 11:03:38"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232409"	"00231312"	"1"	"02317"	"02317"	"2019-04-30 11:07:30"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232410"	"00231313"	"1"	"02317"	"02317"	"2019-04-30 11:09:49"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232411"	"00231314"	"1"	"02317"	"02317"	"2019-04-30 11:12:16"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232412"	"00231315"	"1"	"02317"	"02317"	"2019-04-30 11:14:13"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232413"	"00231316"	"1"	"02317"	"02317"	"2019-04-30 11:16:27"	"00006"	"2025-11-29 15:42:43"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	""
"0000232414"	"00231317"	"1"	"02317"	"02317"	"2019-04-30 11:19:53"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232415"	"00231318"	"1"	"02317"	"02317"	"2019-04-30 11:22:22"	"00006"	"2025-11-29 15:40:35"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	""
"0000232416"	"00231319"	"1"	"02317"	"02317"	"2019-04-30 11:24:44"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232417"	"00231320"	"1"	"02317"	"02317"	"2019-04-30 11:26:49"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232418"	"00231321"	"1"	"02317"	"02317"	"2019-04-30 11:29:35"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232419"	"00231322"	"1"	"02317"	"02317"	"2019-04-30 11:31:28"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232420"	"00231323"	"1"	"02317"	"02317"	"2019-04-30 11:33:35"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232421"	"00231324"	"1"	"02317"	"02317"	"2019-04-30 11:35:22"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232422"	"00231325"	"1"	"02317"	"02317"	"2019-04-30 11:37:08"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232423"	"00231326"	"1"	"02317"	"02317"	"2019-04-30 11:38:59"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232424"	"00231327"	"1"	"02317"	"02317"	"2019-04-30 12:24:08"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232425"	"00231328"	"1"	"02317"	"02317"	"2019-04-30 12:26:29"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232426"	"00231329"	"1"	"02317"	"02317"	"2019-04-30 12:28:34"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232427"	"00231330"	"1"	"02317"	"02317"	"2019-04-30 12:30:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232428"	"00231331"	"1"	"02317"	"02317"	"2019-04-30 12:32:04"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232429"	"00231332"	"1"	"02317"	"02317"	"2019-04-30 12:34:50"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232430"	"00231333"	"1"	"02317"	"02317"	"2019-04-30 12:36:49"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232431"	"00231334"	"1"	"02317"	"02317"	"2019-04-30 12:38:38"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232432"	"00231335"	"1"	"02317"	"02317"	"2019-04-30 12:40:28"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232433"	"00231336"	"1"	"02317"	"02317"	"2019-04-30 12:44:48"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232434"	"00231338"	"1"	"02317"	"02317"	"2019-04-30 12:46:37"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232436"	"00231339"	"1"	"02317"	"02317"	"2019-04-30 12:48:03"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232437"	"00231340"	"1"	"02317"	"02317"	"2019-04-30 12:49:49"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232438"	"00231341"	"1"	"02317"	"02317"	"2019-04-30 12:51:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232439"	"00231342"	"1"	"02317"	"02317"	"2019-04-30 12:54:54"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232440"	"00231343"	"1"	"02317"	"02317"	"2019-04-30 12:57:44"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232441"	"00231344"	"1"	"02317"	"02317"	"2019-04-30 12:59:32"	""	""	"SEQ-NG"	"DNA"	""	""
"0000296824"	"00295652"	"1"	"01164"	"01164"	"2020-03-22 12:43:29"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000316213"	"00315037"	"1"	"00006"	"00006"	"2020-10-24 17:31:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"68-gene panel"
"0000321630"	"00320443"	"1"	"01164"	"01164"	"2020-11-30 12:47:51"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000436810"	"00435330"	"1"	"04530"	"04530"	"2023-07-09 00:42:05"	""	""	"SEQ-NG-I"	"DNA"	""	"WES"
"0000448181"	"00446608"	"1"	"01164"	"01164"	"2024-01-19 14:05:14"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000458112"	"00456495"	"1"	"03544"	"03544"	"2024-10-28 06:58:46"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"WES"
"0000459875"	"00458253"	"1"	"03544"	"03544"	"2024-12-11 06:57:39"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"CES"
"0000470458"	"00468790"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470459"	"00468791"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471844"	"00470176"	"1"	"03544"	"03544"	"2025-11-28 05:59:36"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"WES"
"0000471917"	"00470250"	"1"	"00006"	"00006"	"2025-11-29 14:52:40"	""	""	"SEQ-NG"	"DNA"	""	""
"0000471918"	"00470251"	"1"	"00006"	"00006"	"2025-11-29 14:57:47"	""	""	"SEQ-NG"	"DNA"	""	""
"0000471919"	"00470252"	"1"	"00006"	"00006"	"2025-11-29 15:15:54"	""	""	"arrayCGH"	"DNA"	""	""
"0000471920"	"00470253"	"1"	"00006"	"00006"	"2025-11-29 15:21:38"	""	""	"arrayCGH"	"DNA"	""	""
"0000471921"	"00470254"	"1"	"00006"	"00006"	"2025-11-29 16:20:27"	"00006"	"2025-11-29 16:28:50"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000471922"	"00470255"	"1"	"00006"	"00006"	"2025-11-29 16:20:27"	"00006"	"2025-11-29 16:30:56"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000471923"	"00470256"	"1"	"00006"	"00006"	"2025-11-29 16:20:27"	"00006"	"2025-11-29 16:31:13"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000471924"	"00470257"	"1"	"00006"	"00006"	"2025-11-29 16:20:27"	"00006"	"2025-11-29 16:22:48"	"arrayCGH"	"DNA"	""	""
"0000471925"	"00470258"	"1"	"00006"	"00006"	"2025-11-29 16:37:54"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000471926"	"00470259"	"1"	"00006"	"00006"	"2025-11-29 17:09:21"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471927"	"00470260"	"1"	"00006"	"00006"	"2025-11-29 17:09:21"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471928"	"00470261"	"1"	"00006"	"00006"	"2025-11-29 17:09:21"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471931"	"00470264"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471932"	"00470265"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471933"	"00470266"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471934"	"00470267"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471935"	"00470268"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471936"	"00470269"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471937"	"00470270"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471938"	"00470271"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471939"	"00470272"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471940"	"00470273"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471941"	"00470274"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471942"	"00470275"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471943"	"00470276"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471944"	"00470277"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471945"	"00470278"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471946"	"00470279"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471947"	"00470280"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471948"	"00470281"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471949"	"00470282"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471950"	"00470283"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471951"	"00470284"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471952"	"00470285"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471953"	"00470286"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471954"	"00470287"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471955"	"00470288"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471956"	"00470289"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471957"	"00470290"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471958"	"00470291"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471959"	"00470292"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471960"	"00470293"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471961"	"00470294"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471962"	"00470295"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471963"	"00470296"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471964"	"00470297"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471965"	"00470298"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471966"	"00470299"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471967"	"00470300"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471968"	"00470301"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471969"	"00470302"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471970"	"00470303"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471971"	"00470304"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471972"	"00470305"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471973"	"00470306"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471974"	"00470307"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471975"	"00470308"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471976"	"00470309"	"1"	"00006"	"00006"	"2025-11-30 10:24:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471977"	"00470310"	"1"	"00006"	"00006"	"2025-11-30 11:06:37"	""	""	"arrayCGH"	"DNA"	""	""
"0000471978"	"00470311"	"1"	"00006"	"00006"	"2025-11-30 11:12:01"	""	""	"arrayCGH"	"DNA"	""	""
"0000471979"	"00470312"	"1"	"00006"	"00006"	"2025-11-30 13:31:50"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000471981"	"00470314"	"1"	"00006"	"00006"	"2025-11-30 13:31:50"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000471982"	"00470315"	"1"	"00006"	"00006"	"2025-11-30 13:31:50"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000471983"	"00470316"	"1"	"00006"	"00006"	"2025-11-30 13:31:50"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000471984"	"00470317"	"1"	"00006"	"00006"	"2025-11-30 13:31:50"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000471985"	"00470318"	"1"	"00006"	"00006"	"2025-11-30 13:31:50"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000471986"	"00470319"	"1"	"00006"	"00006"	"2025-11-30 13:31:50"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000471987"	"00470320"	"1"	"00006"	"00006"	"2025-11-30 13:31:50"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000471988"	"00470321"	"1"	"00006"	"00006"	"2025-11-30 13:31:50"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000471989"	"00470322"	"1"	"00006"	"00006"	"2025-11-30 13:31:50"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000471990"	"00470323"	"1"	"00006"	"00006"	"2025-11-30 13:31:50"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000471991"	"00470324"	"1"	"00006"	"00006"	"2025-11-30 13:31:50"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000476259"	"00474577"	"1"	"00006"	"00006"	"2026-03-19 11:30:58"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}"	"{{geneid}}"
"0000050522"	"CTCF"
"0000050574"	"CTCF"
"0000050619"	"CTCF"
"0000232415"	"CTCF"
"0000316213"	"CTCF"
"0000321630"	"CTCF"
"0000448181"	"CTCF"
"0000471921"	"CTCF"
"0000471922"	"CTCF"
"0000471923"	"CTCF"


## 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 = 172
"{{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}}"
"0000079502"	"0"	"90"	"16"	"67654615"	"67654615"	"subst"	"0"	"00006"	"CTCF_000002"	"g.67654615C>T"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67620712C>T"	""	"pathogenic"	""
"0000079554"	"0"	"90"	"16"	"67654646"	"67654646"	"subst"	"0"	"00006"	"CTCF_000001"	"g.67654646C>T"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67620743C>T"	""	"pathogenic"	""
"0000079599"	"0"	"90"	"16"	"67645953"	"67645953"	"subst"	"0"	"00006"	"CTCF_000003"	"g.67645953A>C"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67612050A>C"	""	"pathogenic"	""
"0000274529"	"0"	"10"	"16"	"67663291"	"67663291"	"subst"	"0.00124893"	"01943"	"CTCF_000005"	"g.67663291T>C"	""	""	""	"CTCF(NM_006565.3):c.1702-10T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67629388T>C"	""	"benign"	""
"0000274530"	"0"	"30"	"16"	"67670615"	"67670615"	"subst"	"1.64921E-5"	"01943"	"CTCF_000006"	"g.67670615C>T"	""	""	""	"CTCF(NM_006565.3):c.1860C>T (p.D620=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67636712C>T"	""	"likely benign"	""
"0000274531"	"0"	"30"	"16"	"67670682"	"67670682"	"subst"	"0.00227643"	"01943"	"CTCF_000007"	"g.67670682C>T"	""	""	""	"CTCF(NM_006565.3):c.1927C>T (p.P643S), CTCF(NM_006565.4):c.1927C>T (p.P643S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67636779C>T"	""	"likely benign"	""
"0000274532"	"0"	"90"	"16"	"67645876"	"67645877"	"del"	"0"	"01943"	"CTCF_000004"	"g.67645876_67645877del"	""	""	""	"CTCF(NM_006565.3):c.804_805delTG (p.C268*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67611973_67611974del"	""	"pathogenic"	""
"0000344130"	"0"	"50"	"16"	"67662339"	"67662339"	"subst"	"0"	"02327"	"CTCF_000009"	"g.67662339G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67628436G>A"	""	"VUS"	""
"0000474812"	"0"	"70"	"16"	"67644883"	"67644883"	"dup"	"0"	"02317"	"CTCF_000010"	"g.67644883dup"	""	"{PMID:Konrad 2019:31239556}"	""	"148dupG"	""	"De novo"	""	""	"0"	""	""	"g.67610980dup"	""	"pathogenic (dominant)"	"ACMG"
"0000474813"	"0"	"70"	"16"	"67645350"	"67645353"	"del"	"0"	"02317"	"CTCF_000032"	"g.67645350_67645353del"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67611447_67611450del"	""	"pathogenic (dominant)"	"ACMG"
"0000474814"	"0"	"70"	"16"	"67645350"	"67645353"	"del"	"0"	"02317"	"CTCF_000032"	"g.67645350_67645353del"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.67611447_67611450del"	""	"pathogenic (dominant)"	"ACMG"
"0000474815"	"0"	"70"	"16"	"67645423"	"67645423"	"del"	"0"	"02317"	"CTCF_000008"	"g.67645423del"	""	"{PMID:Konrad 2019:31239556}"	""	"688delG"	""	"De novo"	""	""	"0"	""	""	"g.67611520del"	""	"pathogenic (dominant)"	"ACMG"
"0000474816"	"0"	"70"	"16"	"67645508"	"67645511"	"del"	"0"	"02317"	"CTCF_000033"	"g.67645508_67645511del"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67611605_67611608del"	""	"pathogenic (dominant)"	"ACMG"
"0000474817"	"0"	"70"	"16"	"67645876"	"67645877"	"del"	"0"	"02317"	"CTCF_000031"	"g.67645876_67645877del"	""	"{PMID:Konrad 2019:31239556}"	""	"804_805delTG"	""	"De novo"	""	""	"0"	""	""	"g.67611973_67611974del"	""	"pathogenic (dominant)"	"ACMG"
"0000474818"	"0"	"70"	"16"	"67657695"	"67661138"	"del"	"0"	"02317"	"CTCF_000012"	"g.67657695_67661138del"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67623792_67627235del"	""	"pathogenic (dominant)"	"ACMG"
"0000474819"	"0"	"70"	"16"	"67670715"	"67670715"	"subst"	"0"	"02317"	"CTCF_000030"	"g.67670715C>T"	""	"{PMID:Konrad 2019:31239556}"	""	""	"transcript affected by nonsense mediated mRNA decay"	"Germline"	"no"	""	"0"	""	""	"g.67636812C>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000474820"	"0"	"70"	"16"	"67645852"	"67645852"	"subst"	"0"	"02317"	"CTCF_000029"	"g.67645852A>G"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.67611949A>G"	""	"likely pathogenic (dominant)"	"ACMG"
"0000474821"	"0"	"70"	"16"	"67645853"	"67645853"	"subst"	"0"	"02317"	"CTCF_000028"	"g.67645853G>T"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.67611950G>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000474822"	"0"	"70"	"16"	"67645920"	"67645920"	"subst"	"0"	"02317"	"CTCF_000027"	"g.67645920G>A"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"Somatic"	""	""	"0"	""	""	"g.67612017G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000474823"	"0"	"70"	"16"	"67645953"	"67645953"	"subst"	"0"	"02317"	"CTCF_000003"	"g.67645953A>C"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67612050A>C"	""	"likely pathogenic (dominant)"	"ACMG"
"0000474824"	"0"	"70"	"16"	"67650674"	"67650674"	"subst"	"0"	"02317"	"CTCF_000021"	"g.67650674T>A"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67616771T>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000474825"	"0"	"70"	"16"	"67650701"	"67650701"	"subst"	"0"	"02317"	"CTCF_000022"	"g.67650701G>C"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67616798G>C"	""	"likely pathogenic (dominant)"	"ACMG"
"0000474826"	"0"	"70"	"16"	"67650711"	"67650711"	"subst"	"0"	"02317"	"CTCF_000025"	"g.67650711G>A"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67616808G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000474827"	"0"	"70"	"16"	"67650719"	"67650719"	"subst"	"0"	"02317"	"CTCF_000026"	"g.67650719C>T"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67616816C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000474828"	"0"	"70"	"16"	"67650719"	"67650719"	"subst"	"0"	"02317"	"CTCF_000026"	"g.67650719C>T"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67616816C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000474829"	"11"	"70"	"16"	"67650720"	"67650720"	"subst"	"0"	"02317"	"CTCF_000019"	"g.67650720G>A"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67616817G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000474830"	"0"	"70"	"16"	"67654615"	"67654615"	"subst"	"0"	"02317"	"CTCF_000002"	"g.67654615C>T"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67620712C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000474831"	"0"	"70"	"16"	"67654615"	"67654615"	"subst"	"0"	"02317"	"CTCF_000002"	"g.67654615C>T"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67620712C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000474832"	"0"	"70"	"16"	"67654616"	"67654616"	"subst"	"0"	"02317"	"CTCF_000023"	"g.67654616G>A"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67620713G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000474833"	"0"	"70"	"16"	"67654630"	"67654630"	"subst"	"0"	"02317"	"CTCF_000018"	"g.67654630C>G"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67620727C>G"	""	"pathogenic (dominant)"	"ACMG"
"0000474834"	"0"	"70"	"16"	"67654631"	"67654631"	"subst"	"0"	"02317"	"CTCF_000017"	"g.67654631A>C"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.67620728A>C"	""	"likely pathogenic (dominant)"	"ACMG"
"0000474835"	"0"	"70"	"16"	"67654643"	"67654643"	"subst"	"0"	"02317"	"CTCF_000016"	"g.67654643G>A"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67620740G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000474836"	"0"	"70"	"16"	"67654643"	"67654643"	"subst"	"0"	"02317"	"CTCF_000016"	"g.67654643G>A"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67620740G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000474837"	"0"	"70"	"16"	"67654646"	"67654646"	"subst"	"0"	"02317"	"CTCF_000001"	"g.67654646C>T"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67620743C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000474838"	"0"	"70"	"16"	"67654646"	"67654646"	"subst"	"0"	"02317"	"CTCF_000001"	"g.67654646C>T"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67620743C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000474839"	"0"	"70"	"16"	"67654681"	"67654681"	"subst"	"0"	"02317"	"CTCF_000015"	"g.67654681G>A"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67620778G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000474840"	"0"	"70"	"16"	"67655363"	"67655363"	"subst"	"0"	"02317"	"CTCF_000014"	"g.67655363G>A"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67621460G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000474841"	"0"	"70"	"16"	"67655480"	"67655480"	"subst"	"0"	"02317"	"CTCF_000013"	"g.67655480G>A"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67621577G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000474842"	"0"	"70"	"16"	"67655480"	"67655480"	"subst"	"0"	"02317"	"CTCF_000013"	"g.67655480G>A"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67621577G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000474843"	"0"	"70"	"16"	"67662453"	"67662453"	"subst"	"0"	"02317"	"CTCF_000011"	"g.67662453C>T"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67628550C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000474844"	"0"	"70"	"16"	"67645905"	"67645905"	"subst"	"0"	"02317"	"CTCF_000020"	"g.67645905G>T"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67612002G>T"	""	"VUS"	"ACMG"
"0000474845"	"0"	"70"	"16"	"67650773"	"67650773"	"subst"	"0"	"02317"	"CTCF_000024"	"g.67650773A>C"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.67616870A>C"	""	"VUS"	"ACMG"
"0000474846"	"0"	"50"	"16"	"67662339"	"67662339"	"subst"	"0"	"02317"	"CTCF_000009"	"g.67662339G>A"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.67628436G>A"	""	"VUS"	"ACMG"
"0000558727"	"0"	"30"	"16"	"67645437"	"67645437"	"subst"	"2.03278E-5"	"02327"	"CTCF_000035"	"g.67645437G>T"	""	""	""	"CTCF(NM_006565.4):c.702G>T (p.(Glu234Asp), p.E234D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67611534G>T"	""	"likely benign"	""
"0000558728"	"0"	"50"	"16"	"67645442"	"67645442"	"subst"	"0"	"02327"	"CTCF_000036"	"g.67645442T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67611539T>G"	""	"VUS"	""
"0000558729"	"0"	"50"	"16"	"67654631"	"67654631"	"subst"	"0"	"02327"	"CTCF_000017"	"g.67654631A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67620728A>C"	""	"VUS"	""
"0000558730"	"0"	"90"	"16"	"67654643"	"67654643"	"subst"	"0"	"01943"	"CTCF_000016"	"g.67654643G>A"	""	""	""	"CTCF(NM_006565.3):c.1130G>A (p.R377H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67620740G>A"	""	"pathogenic"	""
"0000558731"	"0"	"30"	"16"	"67655380"	"67655380"	"subst"	"0"	"02327"	"CTCF_000037"	"g.67655380C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67621477C>T"	""	"likely benign"	""
"0000558732"	"0"	"90"	"16"	"67660554"	"67660554"	"subst"	"0"	"01943"	"CTCF_000038"	"g.67660554A>G"	""	""	""	"CTCF(NM_006565.3):c.1454A>G (p.H485R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67626651A>G"	""	"pathogenic"	""
"0000616070"	"0"	"50"	"16"	"67644726"	"67644726"	"subst"	"0"	"02327"	"CTCF_000040"	"g.67644726G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67610823G>A"	""	"VUS"	""
"0000616071"	"0"	"90"	"16"	"67650711"	"67650711"	"subst"	"0"	"01943"	"CTCF_000025"	"g.67650711G>A"	""	""	""	"CTCF(NM_006565.3):c.1016G>A (p.R339Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67616808G>A"	""	"pathogenic"	""
"0000653539"	"0"	"50"	"16"	"67654633"	"67654633"	"subst"	"0"	"01164"	"CTCF_000041"	"g.67654633A>G"	""	""	""	""	"ACMG: PM2,PP3"	"Germline"	""	""	"0"	""	""	"g.67620730A>G"	""	"VUS"	"ACMG"
"0000657898"	"0"	"70"	"16"	"67655479"	"67655479"	"subst"	"4.0813E-6"	"02329"	"CTCF_000042"	"g.67655479C>T"	""	""	""	"CTCF(NM_006565.4):c.1342C>T (p.R448*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67621576C>T"	""	"likely pathogenic"	""
"0000680625"	"0"	"50"	"16"	"67670673"	"67670673"	"subst"	"0"	"01943"	"CTCF_000043"	"g.67670673C>T"	""	""	""	"CTCF(NM_006565.3):c.1918C>T (p.P640S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000692106"	"0"	"70"	"16"	"67650724"	"67650724"	"subst"	"0"	"01943"	"CTCF_000044"	"g.67650724C>G"	""	""	""	"CTCF(NM_006565.3):c.1029C>G (p.Y343*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000692107"	"0"	"30"	"16"	"67663354"	"67663354"	"subst"	"1.63874E-5"	"01943"	"CTCF_000045"	"g.67663354G>A"	""	""	""	"CTCF(NM_006565.3):c.1755G>A (p.G585=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000698363"	"0"	"70"	"16"	"67650728"	"67650728"	"subst"	"0"	"00006"	"CTCF_000046"	"g.67650728C>T"	""	"{PMID:Squeo 2020:32170002}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67616825C>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000704549"	"0"	"70"	"16"	"67660518"	"67660518"	"subst"	"0"	"01164"	"CTCF_000047"	"g.67660518A>G"	""	""	""	""	"ACMG: PS2_moderat, PM2, PP2: class 3"	"De novo"	"?"	""	""	""	""	""	""	"VUS (!)"	"ACMG"
"0000725897"	"0"	"70"	"16"	"67646024"	"67646024"	"subst"	"0"	"01943"	"CTCF_000048"	"g.67646024G>C"	""	""	""	"CTCF(NM_006565.3):c.952G>C (p.G318R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000807507"	"0"	"30"	"16"	"67650791"	"67650791"	"subst"	"4.47067E-5"	"01943"	"CTCF_000050"	"g.67650791C>G"	""	""	""	"CTCF(NM_006565.3):c.1086+10C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000807508"	"0"	"30"	"16"	"67670682"	"67670682"	"subst"	"0.00227643"	"02325"	"CTCF_000007"	"g.67670682C>T"	""	""	""	"CTCF(NM_006565.3):c.1927C>T (p.P643S), CTCF(NM_006565.4):c.1927C>T (p.P643S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000854582"	"0"	"50"	"16"	"67650737"	"67650737"	"subst"	"0"	"02327"	"CTCF_000051"	"g.67650737G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000864881"	"0"	"70"	"16"	"67662322"	"67662322"	"dup"	"0"	"01804"	"CTCF_000052"	"g.67662322dup"	""	""	""	"CTCF(NM_006565.3):c.1568dup (p.(Tyr523*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000893110"	"0"	"70"	"16"	"67644949"	"67644949"	"subst"	"0"	"02329"	"CTCF_000053"	"g.67644949C>T"	""	""	""	"CTCF(NM_006565.4):c.214C>T (p.Q72*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000893111"	"0"	"90"	"16"	"67645350"	"67645353"	"del"	"0"	"02329"	"CTCF_000032"	"g.67645350_67645353del"	""	""	""	"CTCF(NM_006565.4):c.615_618delGAAA (p.K206Pfs*15)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000893112"	"0"	"50"	"16"	"67645905"	"67645905"	"subst"	"4.06154E-6"	"02327"	"CTCF_000054"	"g.67645905G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000893113"	"0"	"50"	"16"	"67662297"	"67662297"	"subst"	"0"	"02327"	"CTCF_000055"	"g.67662297C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000930634"	"0"	"50"	"16"	"67645437"	"67645437"	"subst"	"2.03278E-5"	"02325"	"CTCF_000035"	"g.67645437G>T"	""	""	""	"CTCF(NM_006565.4):c.702G>T (p.(Glu234Asp), p.E234D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000930635"	"0"	"70"	"16"	"67650720"	"67650720"	"subst"	"0"	"02327"	"CTCF_000019"	"g.67650720G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000930636"	"0"	"50"	"16"	"67662340"	"67662340"	"subst"	"1.21817E-5"	"02325"	"CTCF_000056"	"g.67662340A>G"	""	""	""	"CTCF(NM_006565.4):c.1586A>G (p.D529G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000931477"	"0"	"90"	"16"	"67650711"	"67650711"	"subst"	"0"	"04530"	"CTCF_000025"	"g.67650711G>A"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.67616808G>A"	""	"pathogenic (dominant)"	""
"0000950694"	"0"	"50"	"16"	"67644967"	"67644967"	"subst"	"4.06095E-6"	"02325"	"CTCF_000057"	"g.67644967A>G"	""	""	""	"CTCF(NM_006565.4):c.232A>G (p.M78V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000950695"	"0"	"50"	"16"	"67645905"	"67645905"	"subst"	"0"	"02327"	"CTCF_000020"	"g.67645905G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000957578"	"0"	"50"	"16"	"67670638"	"67670638"	"subst"	"0"	"01164"	"CTCF_000058"	"g.67670638C>T"	""	""	""	""	"ACMG: PS2_SUP, PM2_SUP, PP2, BP4_MOD"	"De novo"	"-"	""	""	""	""	"g.67636735C>T"	""	"VUS"	"ACMG"
"0000981992"	"0"	"30"	"16"	"67645437"	"67645437"	"subst"	"2.03278E-5"	"01804"	"CTCF_000035"	"g.67645437G>T"	""	""	""	"CTCF(NM_006565.4):c.702G>T (p.(Glu234Asp), p.E234D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981993"	"0"	"50"	"16"	"67655473"	"67655473"	"subst"	"0"	"02327"	"CTCF_000059"	"g.67655473A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001002478"	"0"	"50"	"16"	"67644745"	"67644745"	"subst"	"0"	"01804"	"CTCF_000060"	"g.67644745G>A"	""	""	""	"CTCF(NM_006565.3):c.10G>A (p.(Asp4Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001002479"	"0"	"50"	"16"	"67645863"	"67645865"	"del"	"0"	"01804"	"CTCF_000061"	"g.67645863_67645865del"	""	""	""	"CTCF(NM_006565.3):c.791_793delAGA (p.(Lys264del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001002480"	"0"	"70"	"16"	"67645958"	"67645958"	"subst"	"0"	"01804"	"CTCF_000062"	"g.67645958T>G"	""	""	""	"CTCF(NM_006565.3):c.886T>G (p.(Cys296Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001002481"	"0"	"30"	"16"	"67663346"	"67663346"	"subst"	"1.64283E-5"	"01804"	"CTCF_000063"	"g.67663346G>A"	""	""	""	"CTCF(NM_006565.3):c.1747G>A (p.(Val583Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001002482"	"0"	"30"	"16"	"67671707"	"67671707"	"subst"	"2.03331E-5"	"01804"	"CTCF_000064"	"g.67671707C>T"	""	""	""	"CTCF(NM_006565.3):c.2116C>T (p.(Pro706Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001012721"	"21"	"70"	"16"	"67645852"	"67645852"	"subst"	"0"	"03544"	"CTCF_000065"	"g.67645852A>T"	""	""	""	""	"detected in a proband, affected sibling and affected mother"	"Germline"	"yes"	""	"0"	""	""	"g.67611949A>T"	"{CV:3378409}"	"likely pathogenic"	"ACMG"
"0001015405"	"0"	"50"	"16"	"67644877"	"67644877"	"subst"	"0"	"02325"	"CTCF_000066"	"g.67644877G>T"	""	""	""	"CTCF(NM_006565.4):c.142G>T (p.G48C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001015406"	"0"	"90"	"16"	"67662285"	"67662285"	"dup"	"0"	"02329"	"CTCF_000067"	"g.67662285dup"	""	""	""	"CTCF(NM_006565.4):c.1531dupA (p.I511Nfs*20)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001018815"	"0"	"70"	"16"	"67654682"	"67654682"	"subst"	"0"	"03544"	"CTCF_000068"	"g.67654682A>G"	""	""	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.67620779A>G"	"{CV:3387773}"	"likely pathogenic"	"ACMG"
"0001026731"	"0"	"50"	"16"	"67645373"	"67645373"	"subst"	"0"	"02325"	"CTCF_000034"	"g.67645373G>A"	""	""	""	"CTCF(NM_006565.4):c.638G>A (p.R213H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001041250"	"0"	"30"	"16"	"67608972"	"67608972"	"subst"	"0"	"01804"	"CTCF_000069"	"g.67608972G>T"	""	""	""	"CTCF(NM_006565.4):c.-10+3805G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041251"	"0"	"30"	"16"	"67615849"	"67615849"	"subst"	"0"	"01804"	"CTCF_000070"	"g.67615849G>A"	""	""	""	"CTCF(NM_006565.4):c.-10+10682G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041252"	"0"	"30"	"16"	"67641741"	"67641741"	"subst"	"0"	"01804"	"CTCF_000071"	"g.67641741T>C"	""	""	""	"CTCF(NM_006565.4):c.-9-2986T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041253"	"0"	"30"	"16"	"67644971"	"67644971"	"subst"	"0"	"01804"	"CTCF_000072"	"g.67644971A>G"	""	""	""	"CTCF(NM_006565.4):c.236A>G (p.(Glu79Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041254"	"0"	"50"	"16"	"67645105"	"67645105"	"subst"	"0"	"01804"	"CTCF_000073"	"g.67645105G>A"	""	""	""	"CTCF(NM_006565.4):c.370G>A (p.(Val124Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001041255"	"0"	"30"	"16"	"67645151"	"67645151"	"subst"	"1.62442E-5"	"01804"	"CTCF_000074"	"g.67645151A>C"	""	""	""	"CTCF(NM_006565.4):c.416A>C (p.(Glu139Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041256"	"0"	"30"	"16"	"67661574"	"67661574"	"subst"	"0"	"01804"	"CTCF_000075"	"g.67661574G>A"	""	""	""	"CTCF(NM_006565.4):c.1519-699G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041257"	"0"	"30"	"16"	"67663085"	"67663085"	"subst"	"0"	"01804"	"CTCF_000076"	"g.67663085G>A"	""	""	""	"CTCF(NM_006565.4):c.1702-216G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001058580"	"0"	"90"	"16"	"67655425"	"67655435"	"del"	"0"	"00006"	"CTCF_000078"	"g.67655425_67655435del"	""	"{PMID:Retterer 2016:26633542}"	""	"1288_1298del11"	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.67621522_67621532del"	""	"pathogenic"	""
"0001058581"	"0"	"70"	"16"	"67650723"	"67650723"	"subst"	"0"	"00006"	"CTCF_000077"	"g.67650723A>G"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.67616820A>G"	""	"likely pathogenic"	""
"0001060154"	"0"	"70"	"16"	"67650654"	"67650654"	"subst"	"0"	"03544"	"CTCF_000079"	"g.67650654G>A"	""	""	""	""	"inherited from an apparently unaffected mother"	"Germline"	"-"	"rs2142839315"	"0"	""	""	"g.67616751G>A"	"{CV:2443598}"	"likely pathogenic (!)"	"ACMG"
"0001060300"	"11"	"70"	"16"	"67650720"	"67650720"	"subst"	"0"	"00006"	"CTCF_000019"	"g.67650720G>A"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67616817G>A"	""	"likely pathogenic (dominant)"	""
"0001060301"	"0"	"70"	"16"	"67650720"	"67650720"	"subst"	"0"	"00006"	"CTCF_000019"	"g.67650720G>A"	""	"{PMID:Konrad 2019:31239556}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.67616817G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0001060302"	"0"	"70"	"16"	"67345851"	"68899546"	"del"	"0"	"00006"	"CTCF_000080"	"g.(?_67345851)_(68899546_?)del"	""	"{PMID:Konrad 2019:31239556}"	""	"arr[GRCh37] 16q22.1(67345851_68899546)x1"	"1.5 Mb deletion of CTCF and 42 other genes"	"De novo"	""	""	"0"	""	""	"g.(?_67311948)_(68865643_?)del"	""	"likely pathogenic (dominant)"	""
"0001060303"	"0"	"70"	"16"	"0"	"0"	""	""	"00006"	"CTCF_000081"	"g.6(?_7588276)_(68173459_?)del"	""	"{PMID:Konrad 2019:31239556}"	""	"arr[GRCh37] 16q22.1(67588276_68173459)x1"	"0.58 Mb deletion incl. partially CTCF and 26 other genes"	"De novo"	""	""	"0"	""	""	"g.(?_67554373)_(68139556_?)del"	""	"likely pathogenic (dominant)"	""
"0001060310"	"0"	"90"	"16"	"67645110"	"67645110"	"dup"	"0"	"00006"	"CTCF_000083"	"g.67645110dup"	""	"{PMID:Gregor 2013:23746550}"	""	"375dupT"	"in RNA variant not detected (nonsense mediated mRNA decay)"	"De novo"	""	""	"0"	""	""	"g.67611207dup"	""	"pathogenic (dominant)"	""
"0001060311"	"0"	"90"	"16"	"67654699"	"67654699"	"dup"	"0"	"00006"	"CTCF_000084"	"g.67654699dup"	""	"{PMID:Gregor 2013:23746550}"	""	"1186dupA"	""	"De novo"	""	""	"0"	""	""	"g.67620796dup"	""	"pathogenic (dominant)"	""
"0001060312"	"0"	"90"	"16"	"67662453"	"67662453"	"subst"	"0"	"00006"	"CTCF_000011"	"g.67662453C>T"	""	"{PMID:Gregor 2013:23746550}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67628550C>T"	""	"pathogenic (dominant)"	""
"0001060313"	"0"	"90"	"16"	"67400986"	"67677910"	"del"	"0"	"00006"	"CTCF_000082"	"g.(?_67400986)_(67677910_?)del"	""	"{PMID:Gregor 2013:23746550}"	""	"hg19 67400986_67677910x1"	"277kb deletion incl CTCF"	"De novo"	""	""	"0"	""	""	"g.(?_67367083)_(67644007_?)del"	""	"pathogenic (dominant)"	""
"0001060314"	"0"	"90"	"16"	"67645350"	"67645353"	"del"	"0"	"00006"	"CTCF_000032"	"g.67645350_67645353del"	""	"{PMID:Bastaki 2017:28619046}"	""	"612delAAAG"	""	"De novo"	""	""	"0"	""	""	"g.67611447_67611450del"	""	"pathogenic (dominant)"	""
"0001060315"	"0"	"90"	"16"	"67645350"	"67645353"	"del"	"0"	"00006"	"CTCF_000032"	"g.67645350_67645353del"	""	"{PMID:Chen 2019:30893510}"	""	"615_618delGAAA"	""	"De novo"	""	""	"0"	""	""	"g.67611447_67611450del"	""	"pathogenic (dominant)"	""
"0001060316"	"0"	"90"	"16"	"67662453"	"67662453"	"subst"	"0"	"00006"	"CTCF_000011"	"g.67662453C>T"	""	"{PMID:Chen 2019:30893510}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67628550C>T"	""	"pathogenic (dominant)"	""
"0001060317"	"0"	"90"	"16"	"67645064"	"67645064"	"dup"	"0"	"00006"	"CTCF_000090"	"g.67645064dup"	""	"{PMID:Chen 2019:30893510}"	""	"329dupT"	""	"De novo"	""	""	"0"	""	""	"g.67611161dup"	""	"pathogenic (dominant)"	""
"0001060320"	"0"	"90"	"16"	"67645267"	"67645273"	"del"	"0"	"00006"	"CTCF_000091"	"g.67645267_67645273del"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PVS1, PM2, PM6_sup"	"De novo"	""	""	"0"	""	""	"g.67611364_67611370del"	""	"pathogenic (dominant)"	"ACMG"
"0001060321"	"0"	"90"	"16"	"67645513"	"67645516"	"del"	"0"	"00006"	"CTCF_000089"	"g.67645513_67645516del"	""	"{PMID:Wang 2020:33004838}, {PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PVS1, PM2, PM6_sup"	"De novo"	""	""	"0"	""	""	"g.67611610_67611613del"	""	"pathogenic (dominant)"	"ACMG"
"0001060322"	"0"	"90"	"16"	"67670671"	"67670671"	"dup"	"0"	"00006"	"CTCF_000117"	"g.67670671dup"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	"1916dupA"	"ACMG PVS1, PM2, PM6_sup"	"De novo"	""	""	"0"	""	""	"g.67636768dup"	""	"pathogenic (dominant)"	"ACMG"
"0001060323"	"11"	"90"	"16"	"67663397"	"67663397"	"subst"	"0"	"00006"	"CTCF_000116"	"g.67663397A>T"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PVS1, PM2, PS2_mod; father mosaic"	"Germline"	""	""	"0"	""	""	"g.67629494A>T"	""	"pathogenic (dominant)"	"ACMG"
"0001060324"	"0"	"90"	"16"	"67645350"	"67645353"	"del"	"0"	"00006"	"CTCF_000032"	"g.67645350_67645353del"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PVS1, PM2, PM6"	"De novo"	""	""	"0"	""	""	"g.67611447_67611450del"	""	"pathogenic (dominant)"	"ACMG"
"0001060325"	"0"	"70"	"16"	"67650774"	"67650774"	"subst"	"0"	"00006"	"CTCF_000100"	"g.67650774G>A"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PM6, PP2, PP3"	"De novo"	""	""	"0"	""	""	"g.67616871G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0001060326"	"0"	"70"	"16"	"67654681"	"67654681"	"subst"	"0"	"00006"	"CTCF_000015"	"g.67654681G>A"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PS2, PP2, PM1"	"De novo"	""	""	"0"	""	""	"g.67620778G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0001060327"	"0"	"90"	"16"	"67662424"	"67662428"	"del"	"0"	"00006"	"CTCF_000049"	"g.67662424_67662428del"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PVS1, PM2, PM6_sup"	"De novo"	""	""	"0"	""	""	"g.67628521_67628525del"	""	"pathogenic (dominant)"	"ACMG"
"0001060328"	"0"	"70"	"16"	"67660465"	"67660465"	"subst"	"0"	"00006"	"CTCF_000110"	"g.67660465C>G"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PM1, PP2, PM6_sup"	"De novo"	""	""	"0"	""	""	"g.67626562C>G"	""	"likely pathogenic (dominant)"	"ACMG"
"0001060329"	"0"	"70"	"16"	"67645852"	"67645852"	"subst"	"0"	"00006"	"CTCF_000029"	"g.67645852A>G"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PVS1, PM2, PM6_sup"	"De novo"	""	""	"0"	""	""	"g.67611949A>G"	""	"likely pathogenic (dominant)"	"ACMG"
"0001060330"	"0"	"90"	"16"	"67650711"	"67650711"	"subst"	"0"	"00006"	"CTCF_000025"	"g.67650711G>A"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PM6_str, PM1, PS3"	"De novo"	""	""	"0"	""	""	"g.67616808G>A"	""	"pathogenic (dominant)"	"ACMG"
"0001060331"	"0"	"70"	"16"	"67646006"	"67646006"	"del"	"0"	"00006"	"CTCF_000095"	"g.67646006del"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PVS1, PM2"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.67612103del"	""	"likely pathogenic (dominant)"	"ACMG"
"0001060332"	"0"	"90"	"16"	"67650711"	"67650711"	"subst"	"0"	"00006"	"CTCF_000025"	"g.67650711G>A"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PM6_str, PM1, PS3"	"De novo"	""	""	"0"	""	""	"g.67616808G>A"	""	"pathogenic (dominant)"	"ACMG"
"0001060333"	"0"	"70"	"16"	"67655399"	"67655404"	"del"	"0"	"00006"	"CTCF_000108"	"g.67655399_67655404del"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PM4, PM6_mod, PM1, PP3"	"De novo"	""	""	"0"	""	""	"g.67621496_67621501del"	""	"likely pathogenic (dominant)"	"ACMG"
"0001060334"	"0"	"70"	"16"	"67655425"	"67655425"	"subst"	"0"	"00006"	"CTCF_000109"	"g.67655425C>G"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PM1, PP2, PM6_sup"	"De novo"	""	""	"0"	""	""	"g.67621522C>G"	""	"likely pathogenic (dominant)"	"ACMG"
"0001060335"	"0"	"90"	"16"	"67662453"	"67662453"	"subst"	"0"	"00006"	"CTCF_000011"	"g.67662453C>T"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PM6_Very str, PP3"	"De novo"	""	""	"0"	""	""	"g.67628550C>T"	""	"pathogenic (dominant)"	"ACMG"
"0001060336"	"0"	"90"	"16"	"67663300"	"67663300"	"subst"	"0"	"00006"	"CTCF_000114"	"g.67663300G>A"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PVS1, PM2, PM6_sup"	"De novo"	""	""	"0"	""	""	"g.67629397G>A"	""	"pathogenic (dominant)"	"ACMG"
"0001060337"	"21"	"50"	"16"	"67654627"	"67654627"	"subst"	"0"	"00006"	"CTCF_000103"	"g.67654627T>C"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PP3"	"Germline"	""	""	"0"	""	""	"g.67620724T>C"	""	"VUS"	"ACMG"
"0001060338"	"21"	"50"	"16"	"67654627"	"67654627"	"subst"	"0"	"00006"	"CTCF_000103"	"g.67654627T>C"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PP3"	"Germline"	""	""	"0"	""	""	"g.67620724T>C"	""	"VUS"	"ACMG"
"0001060339"	"0"	"50"	"16"	"67654627"	"67654627"	"subst"	"0"	"00006"	"CTCF_000103"	"g.67654627T>C"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PP3"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.67620724T>C"	""	"VUS"	"ACMG"
"0001060340"	"0"	"90"	"16"	"67662427"	"67662429"	"delins"	"0"	"00006"	"CTCF_000112"	"g.67662427_67662429delinsTT"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	"1673_1675delCTAinsTT"	"ACMG PVS1, PM2, PM6_sup"	"De novo"	""	""	"0"	""	""	"g.67628524_67628526delinsTT"	""	"pathogenic (dominant)"	"ACMG"
"0001060341"	"0"	"70"	"16"	"67650774"	"67650774"	"subst"	"0"	"00006"	"CTCF_000100"	"g.67650774G>A"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PM6, PP2, PP3"	"De novo"	""	""	"0"	""	""	"g.67616871G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0001060342"	"0"	"70"	"16"	"67645934"	"67645934"	"subst"	"0"	"00006"	"CTCF_000093"	"g.67645934C>T"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PM1, PP2, PM6_sup, PP3"	"De novo"	""	""	"0"	""	""	"g.67612031C>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0001060343"	"0"	"90"	"16"	"67650711"	"67650711"	"subst"	"0"	"00006"	"CTCF_000025"	"g.67650711G>A"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PM6_str, PM1, PS3"	"De novo"	""	""	"0"	""	""	"g.67616808G>A"	""	"pathogenic (dominant)"	"ACMG"
"0001060344"	"0"	"90"	"16"	"66700001"	"70800000"	"del"	"0"	"00006"	"CTCF_000085"	"g.(?_66700001)_(70800000_?)del"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"16q22.1 348 Kb deletion (CTCF plus 8 genes)"	"De novo"	""	""	"0"	""	""	"g.(?_66600001)_(70800000_?)del"	""	"pathogenic (dominant)"	"ACMG"
"0001060345"	"0"	"70"	"16"	"67662377"	"67662377"	"subst"	"0"	"00006"	"CTCF_000111"	"g.67662377C>G"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PM1, PP2, PM6_mod, PP3"	"De novo"	""	""	"0"	""	""	"g.67628474C>G"	""	"likely pathogenic (dominant)"	"ACMG"
"0001060346"	"0"	"70"	"16"	"67654625"	"67654625"	"subst"	"0"	"00006"	"CTCF_000102"	"g.67654625G>C"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PM6_mod, PP3"	"De novo"	""	""	"0"	""	""	"g.67620722G>C"	""	"likely pathogenic (dominant)"	"ACMG"
"0001060347"	"0"	"90"	"16"	"67650724"	"67650724"	"subst"	"0"	"00006"	"CTCF_000098"	"g.67650724C>A"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PVS1, PM2, PM6_sup"	"De novo"	""	""	"0"	""	""	"g.67616821C>A"	""	"pathogenic (dominant)"	"ACMG"
"0001060348"	"0"	"90"	"16"	"67650711"	"67650711"	"subst"	"0"	"00006"	"CTCF_000025"	"g.67650711G>A"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PM6_str, PM1, PS3"	"De novo"	""	""	"0"	""	""	"g.67616808G>A"	""	"pathogenic (dominant)"	"ACMG"
"0001060349"	"0"	"90"	"16"	"67645969"	"67645970"	"del"	"0"	"00006"	"CTCF_000094"	"g.67645969_67645970del"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	"897_898delTG"	"ACMG PVS1, PM2, PM6"	"De novo"	""	""	"0"	""	""	"g.67612066_67612067del"	""	"pathogenic (dominant)"	"ACMG"
"0001060350"	"0"	"90"	"16"	"67662453"	"67662453"	"subst"	"0"	"00006"	"CTCF_000011"	"g.67662453C>T"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PM6_Very str, PP3"	"De novo"	""	""	"0"	""	""	"g.67628550C>T"	""	"pathogenic (dominant)"	"ACMG"
"0001060351"	"0"	"90"	"16"	"67654615"	"67654615"	"subst"	"0"	"00006"	"CTCF_000002"	"g.67654615C>T"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PM6_vs, PM1"	"De novo"	""	""	"0"	""	""	"g.67620712C>T"	""	"pathogenic (dominant)"	"ACMG"
"0001060352"	"0"	"90"	"16"	"67645350"	"67645353"	"del"	"0"	"00006"	"CTCF_000032"	"g.67645350_67645353del"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PVS1, PM2, PM6"	"De novo"	""	""	"0"	""	""	"g.67611447_67611450del"	""	"pathogenic (dominant)"	"ACMG"
"0001060353"	"0"	"90"	"16"	"67655480"	"67655480"	"subst"	"0"	"00006"	"CTCF_000013"	"g.67655480G>A"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PS3, PM1, PS2"	"De novo"	""	""	"0"	""	""	"g.67621577G>A"	""	"pathogenic (dominant)"	"ACMG"
"0001060354"	"20"	"70"	"16"	"67662450"	"67662450"	"subst"	"0"	"00006"	"CTCF_000113"	"g.67662450C>T"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PM1, PP2, PS2_mod, PP3; possibly inherited, maernal mosaicism"	"Germline"	""	""	"0"	""	""	"g.67628547C>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0001060355"	"0"	"70"	"16"	"67654646"	"67654646"	"subst"	"0"	"00006"	"CTCF_000001"	"g.67654646C>T"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PS2"	"De novo"	""	""	"0"	""	""	"g.67620743C>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0001060356"	"0"	"90"	"16"	"67654643"	"67654643"	"subst"	"0"	"00006"	"CTCF_000016"	"g.67654643G>A"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PS3, PS2"	"De novo"	""	""	"0"	""	""	"g.67620740G>A"	""	"pathogenic (dominant)"	"ACMG"
"0001060357"	"0"	"90"	"16"	"67654643"	"67654643"	"subst"	"0"	"00006"	"CTCF_000016"	"g.67654643G>A"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PS3, PS2"	"De novo"	""	""	"0"	""	""	"g.67620740G>A"	""	"pathogenic (dominant)"	"ACMG"
"0001060358"	"0"	"70"	"16"	"67654616"	"67654616"	"subst"	"0"	"00006"	"CTCF_000023"	"g.67654616G>A"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PM5, PM1, PS2_mod"	"De novo"	""	""	"0"	""	""	"g.67620713G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0001060359"	"0"	"90"	"16"	"66748613"	"68960054"	"del"	"0"	"00006"	"CTCF_000086"	"g.(?_66748613)_(68960054_?)del"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	""	"De novo"	""	""	"0"	""	"arr[CRCh37] 16q22.1 (66748613_68960054)x1"	"g.(?_66714710)_(68926151_?)del"	""	"pathogenic (dominant)"	"ACMG"
"0001060360"	"0"	"90"	"16"	"67654615"	"67654615"	"subst"	"0"	"00006"	"CTCF_000002"	"g.67654615C>T"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PM6_Very str, PM1"	"De novo"	""	""	"0"	""	""	"g.67620712C>T"	""	"pathogenic (dominant)"	"ACMG"
"0001060361"	"0"	"70"	"16"	"67650698"	"67650698"	"subst"	"0"	"00006"	"CTCF_000096"	"g.67650698G>A"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PM6_sup, PM1"	"De novo"	""	""	"0"	""	""	"g.67616795G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0001060362"	"0"	"90"	"16"	"67663355"	"67663355"	"del"	"0"	"00006"	"CTCF_000115"	"g.67663355del"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PVS1, PM2, PS2_mod"	"De novo"	""	""	"0"	""	""	"g.67629452del"	""	"pathogenic (dominant)"	"ACMG"
"0001060363"	"0"	"70"	"16"	"67645412"	"67645412"	"subst"	"0"	"00006"	"CTCF_000092"	"g.67645412A>G"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PM6_sup, PM1, PS3_sup"	"De novo"	""	""	"0"	""	""	"g.67611509A>G"	""	"likely pathogenic (dominant)"	"ACMG"
"0001060364"	"0"	"90"	"16"	"67650711"	"67650711"	"subst"	"0"	"00006"	"CTCF_000025"	"g.67650711G>A"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PM6_str, PM1, PS3"	"De novo"	""	""	"0"	""	""	"g.67616808G>A"	""	"pathogenic (dominant)"	"ACMG"
"0001060365"	"0"	"50"	"16"	"67654720"	"67654720"	"subst"	"0"	"00006"	"CTCF_000106"	"g.67654720G>A"	""	"{PMID:Valverde de Morales 2023:36454652}"	""	""	"ACMG PM2, PP2, PM6_sup, PP3"	"De novo"	""	""	"0"	""	""	"g.67620817G>A"	""	"VUS"	"ACMG"
"0001060368"	"0"	"90"	"16"	"67100000"	"68200000"	"del"	"0"	"00006"	"CTCF_000087"	"g.(?_67100000)_(68200000_?)del"	""	"{PMID:Hori 2017:28848059}"	""	""	"1.1 Mb deletion at 16q22.1 (67.1–68.2 Mb)"	"De novo"	""	""	"0"	""	""	"g.(?_67066097)_(68166097_?)del"	""	"pathogenic (dominant)"	""
"0001060369"	"0"	"90"	"16"	"67300000"	"68900000"	"del"	"0"	"00006"	"CTCF_000088"	"g.(?_67300000)_(68900000_?)del"	""	"{PMID:Hori 2017:28848059}"	""	""	"1.6 Mb deletion at 16q22.1 (67.3–68.9 Mb)"	"De novo"	""	""	"0"	""	""	"g.(?_67266097)_(68866097_?)del"	""	"pathogenic (dominant)"	""
"0001060370"	"0"	"70"	"16"	"67645920"	"67645920"	"subst"	"0"	"00006"	"CTCF_000027"	"g.67645920G>A"	""	"{PMID:Wang 2020:33004838}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67612017G>A"	""	"likely pathogenic (dominant)"	""
"0001060372"	"0"	"90"	"16"	"67650699"	"67650699"	"del"	"0"	"00006"	"CTCF_000097"	"g.67650699del"	""	"{PMID:Wang 2020:33004838}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.67616796del"	""	"pathogenic (dominant)"	""
"0001060373"	"0"	"70"	"16"	"67650711"	"67650711"	"subst"	"0"	"00006"	"CTCF_000025"	"g.67650711G>A"	""	"{PMID:Wang 2020:33004838}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.67616808G>A"	""	"likely pathogenic (dominant)"	""
"0001060374"	"0"	"70"	"16"	"67650719"	"67650719"	"subst"	"0"	"00006"	"CTCF_000026"	"g.67650719C>T"	""	"{PMID:Wang 2020:33004838}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67616816C>T"	""	"likely pathogenic (dominant)"	""
"0001060375"	"0"	"90"	"16"	"67671590"	"67671590"	"subst"	"0"	"00006"	"CTCF_000118"	"g.67671590G>A"	""	"{PMID:Wang 2020:33004838}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.67637687G>A"	""	"pathogenic (dominant)"	""
"0001060376"	"0"	"70"	"16"	"67654615"	"67654615"	"subst"	"0"	"00006"	"CTCF_000002"	"g.67654615C>T"	""	"{PMID:Wang 2020:33004838}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67620712C>T"	""	"likely pathogenic (dominant)"	""
"0001060377"	"0"	"70"	"16"	"67654631"	"67654631"	"subst"	"0"	"00006"	"CTCF_000104"	"g.67654631A>T"	""	"{PMID:Wang 2020:33004838}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67620728A>T"	""	"likely pathogenic (dominant)"	""
"0001060378"	"0"	"70"	"16"	"67655381"	"67655381"	"subst"	"0"	"00006"	"CTCF_000107"	"g.67655381G>A"	""	"{PMID:Wang 2020:33004838}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.67621478G>A"	""	"likely pathogenic (dominant)"	""
"0001060379"	"0"	"90"	"16"	"67650724"	"67650724"	"subst"	"0"	"00006"	"CTCF_000098"	"g.67650724C>A"	""	"{PMID:Wang 2020:33004838}"	""	""	"variant not maternal"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.67616821C>A"	""	"pathogenic (dominant)"	""
"0001060380"	"0"	"70"	"16"	"67654607"	"67654607"	"subst"	"0"	"00006"	"CTCF_000101"	"g.67654607A>G"	""	"{PMID:Wang 2020:33004838}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67620704A>G"	""	"likely pathogenic (dominant)"	""
"0001060381"	"0"	"70"	"16"	"67654642"	"67654642"	"subst"	"0"	"00006"	"CTCF_000105"	"g.67654642C>T"	""	"{PMID:Wang 2020:33004838}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.67620739C>T"	""	"likely pathogenic (dominant)"	""
"0001060382"	"0"	"90"	"16"	"67650734"	"67650734"	"del"	"0"	"00006"	"CTCF_000099"	"g.67650734del"	""	"{PMID:Wang 2020:33004838}"	""	"1037delC"	""	"De novo"	""	""	"0"	""	""	"g.67616831del"	""	"pathogenic (dominant)"	""
"0001066516"	"0"	"50"	"16"	"67655456"	"67655456"	"subst"	"0"	"02325"	"CTCF_000119"	"g.67655456C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001066517"	"0"	"50"	"16"	"67671646"	"67671646"	"subst"	"0"	"02325"	"CTCF_000120"	"g.67671646A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001071034"	"0"	"70"	"16"	"67662424"	"67662428"	"del"	"0"	"00006"	"CTCF_000049"	"g.67662424_67662428del"	""	"{PMID:Nair 2018:30293248}"	""	""	"possible combination of variants not reported"	"Germline/De novo (untested)"	""	"rs886041901"	"0"	""	""	"g.67628521_67628525del"	""	"likely pathogenic"	""


## 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 CTCF
## Count = 172
"{{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}}"
"0000079502"	"00005834"	"00"	"1102"	"0"	"1102"	"0"	"c.1102C>T"	"r.(?)"	"p.(Arg368Cys)"	""
"0000079554"	"00005834"	"00"	"1133"	"0"	"1133"	"0"	"c.1133C>T"	"r.(?)"	"p.(Pro378Leu)"	""
"0000079599"	"00005834"	"00"	"881"	"0"	"881"	"0"	"c.881A>C"	"r.(?)"	"p.(His294Pro)"	""
"0000274529"	"00005834"	"10"	"1702"	"-10"	"1702"	"-10"	"c.1702-10T>C"	"r.(=)"	"p.(=)"	""
"0000274530"	"00005834"	"30"	"1860"	"0"	"1860"	"0"	"c.1860C>T"	"r.(?)"	"p.(Asp620=)"	""
"0000274531"	"00005834"	"30"	"1927"	"0"	"1927"	"0"	"c.1927C>T"	"r.(?)"	"p.(Pro643Ser)"	""
"0000274532"	"00005834"	"90"	"804"	"0"	"805"	"0"	"c.804_805del"	"r.(?)"	"p.(Cys268Ter)"	""
"0000344130"	"00005834"	"50"	"1585"	"0"	"1585"	"0"	"c.1585G>A"	"r.(?)"	"p.(Asp529Asn)"	""
"0000474812"	"00005834"	"70"	"148"	"0"	"148"	"0"	"c.148dup"	"r.(?)"	"p.(Val50Glyfs*27)"	""
"0000474813"	"00005834"	"70"	"615"	"0"	"618"	"0"	"c.615_618del"	"r.(?)"	"p.(Lys206Profs*15)"	""
"0000474814"	"00005834"	"70"	"615"	"0"	"618"	"0"	"c.615_618del"	"r.(?)"	"p.(Lys206Profs*15)"	""
"0000474815"	"00005834"	"70"	"688"	"0"	"688"	"0"	"c.688del"	"r.(?)"	"p.(Glu230Lysfs*20)"	""
"0000474816"	"00005834"	"70"	"773"	"0"	"776"	"0"	"c.773_776del"	"r.(?)"	"p.(Lys258Argfs*4)"	""
"0000474817"	"00005834"	"70"	"804"	"0"	"805"	"0"	"c.804_805del"	"r.(?)"	"p.(Cys268*)"	""
"0000474818"	"00005834"	"70"	"1357"	"2201"	"1518"	"520"	"c.1357+2201_1518+520del"	"r.(?)"	"p.(Val454Glufs*23)"	""
"0000474819"	"00005834"	"70"	"1960"	"0"	"1960"	"0"	"c.1960C>T"	"r.1960C>T"	"p.Arg654Ter"	""
"0000474820"	"00005834"	"70"	"782"	"-2"	"782"	"-2"	"c.782-2A>G"	"r.spl?"	"p.(Val262_Gly318del)"	""
"0000474821"	"00005834"	"70"	"782"	"-1"	"782"	"-1"	"c.782-1G>T"	"r.782_952del"	"p.Val262_Gly318del"	"3i"
"0000474822"	"00005834"	"70"	"848"	"0"	"848"	"0"	"c.848G>A"	"r.(?)"	"p.(Arg283His)"	""
"0000474823"	"00005834"	"70"	"881"	"0"	"881"	"0"	"c.881A>C"	"r.(?)"	"p.(His294Pro)"	""
"0000474824"	"00005834"	"70"	"979"	"0"	"979"	"0"	"c.979T>A"	"r.(?)"	"p.(Cys327Ser)"	""
"0000474825"	"00005834"	"70"	"1006"	"0"	"1006"	"0"	"c.1006G>C"	"r.(?)"	"p.(Glu336Gln)"	""
"0000474826"	"00005834"	"70"	"1016"	"0"	"1016"	"0"	"c.1016G>A"	"r.(?)"	"p.(Arg339Gln)"	""
"0000474827"	"00005834"	"70"	"1024"	"0"	"1024"	"0"	"c.1024C>T"	"r.(?)"	"p.(Arg342Cys)"	""
"0000474828"	"00005834"	"70"	"1024"	"0"	"1024"	"0"	"c.1024C>T"	"r.(?)"	"p.(Arg342Cys)"	""
"0000474829"	"00005834"	"70"	"1025"	"0"	"1025"	"0"	"c.1025G>A"	"r.(?)"	"p.(Arg342His)"	""
"0000474830"	"00005834"	"70"	"1102"	"0"	"1102"	"0"	"c.1102C>T"	"r.(?)"	"p.(Arg368Cys)"	""
"0000474831"	"00005834"	"70"	"1102"	"0"	"1102"	"0"	"c.1102C>T"	"r.(?)"	"p.(Arg368Cys)"	""
"0000474832"	"00005834"	"70"	"1103"	"0"	"1103"	"0"	"c.1103G>A"	"r.(?)"	"p.(Arg368His)"	""
"0000474833"	"00005834"	"70"	"1117"	"0"	"1117"	"0"	"c.1117C>G"	"r.(?)"	"p.(His373Asp)"	""
"0000474834"	"00005834"	"70"	"1118"	"0"	"1118"	"0"	"c.1118A>C"	"r.(?)"	"p.(His373Pro)"	""
"0000474835"	"00005834"	"70"	"1130"	"0"	"1130"	"0"	"c.1130G>A"	"r.(?)"	"p.(Arg377His)"	""
"0000474836"	"00005834"	"70"	"1130"	"0"	"1130"	"0"	"c.1130G>A"	"r.(?)"	"p.(Arg377His)"	""
"0000474837"	"00005834"	"70"	"1133"	"0"	"1133"	"0"	"c.1133C>T"	"r.(?)"	"p.(Pro378Leu)"	""
"0000474838"	"00005834"	"70"	"1133"	"0"	"1133"	"0"	"c.1133C>T"	"r.(?)"	"p.(Pro378Leu)"	""
"0000474839"	"00005834"	"70"	"1168"	"0"	"1168"	"0"	"c.1168G>A"	"r.(?)"	"p.(Asp390Asn)"	""
"0000474840"	"00005834"	"70"	"1226"	"0"	"1226"	"0"	"c.1226G>A"	"r.(?)"	"p.(Cys409Tyr)"	""
"0000474841"	"00005834"	"70"	"1343"	"0"	"1343"	"0"	"c.1343G>A"	"r.(?)"	"p.(Arg448Gln)"	""
"0000474842"	"00005834"	"70"	"1343"	"0"	"1343"	"0"	"c.1343G>A"	"r.(?)"	"p.(Arg448Gln)"	""
"0000474843"	"00005834"	"70"	"1699"	"0"	"1699"	"0"	"c.1699C>T"	"r.(?)"	"p.(Arg567Trp)"	""
"0000474844"	"00005834"	"70"	"833"	"0"	"833"	"0"	"c.833G>T"	"r.(?)"	"p.(Arg278Leu)"	""
"0000474845"	"00005834"	"70"	"1078"	"0"	"1078"	"0"	"c.1078A>C"	"r.(?)"	"p.(Ser360Arg)"	""
"0000474846"	"00005834"	"50"	"1585"	"0"	"1585"	"0"	"c.1585G>A"	"r.(?)"	"p.(Asp529Asn)"	""
"0000558727"	"00005834"	"30"	"702"	"0"	"702"	"0"	"c.702G>T"	"r.(?)"	"p.(Glu234Asp)"	""
"0000558728"	"00005834"	"50"	"707"	"0"	"707"	"0"	"c.707T>G"	"r.(?)"	"p.(Leu236Arg)"	""
"0000558729"	"00005834"	"50"	"1118"	"0"	"1118"	"0"	"c.1118A>C"	"r.(?)"	"p.(His373Pro)"	""
"0000558730"	"00005834"	"90"	"1130"	"0"	"1130"	"0"	"c.1130G>A"	"r.(?)"	"p.(Arg377His)"	""
"0000558731"	"00005834"	"30"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415Trp)"	""
"0000558732"	"00005834"	"90"	"1454"	"0"	"1454"	"0"	"c.1454A>G"	"r.(?)"	"p.(His485Arg)"	""
"0000616070"	"00005834"	"50"	"-9"	"-1"	"-9"	"-1"	"c.-9-1G>A"	"r.spl?"	"p.?"	""
"0000616071"	"00005834"	"90"	"1016"	"0"	"1016"	"0"	"c.1016G>A"	"r.(?)"	"p.(Arg339Gln)"	""
"0000653539"	"00005834"	"50"	"1120"	"0"	"1120"	"0"	"c.1120A>G"	"r.(?)"	"p.(Thr374Ala)"	""
"0000657898"	"00005834"	"70"	"1342"	"0"	"1342"	"0"	"c.1342C>T"	"r.(?)"	"p.(Arg448Ter)"	""
"0000680625"	"00005834"	"50"	"1918"	"0"	"1918"	"0"	"c.1918C>T"	"r.(?)"	"p.(Pro640Ser)"	""
"0000692106"	"00005834"	"70"	"1029"	"0"	"1029"	"0"	"c.1029C>G"	"r.(?)"	"p.(Tyr343Ter)"	""
"0000692107"	"00005834"	"30"	"1755"	"0"	"1755"	"0"	"c.1755G>A"	"r.(?)"	"p.(Gly585=)"	""
"0000698363"	"00005834"	"70"	"1033"	"0"	"1033"	"0"	"c.1033C>T"	"r.(?)"	"p.(His345Tyr)"	"5"
"0000704549"	"00005834"	"70"	"1418"	"0"	"1418"	"0"	"c.1418A>G"	"r.(?)"	"p.(Asp473Gly)"	""
"0000725897"	"00005834"	"70"	"952"	"0"	"952"	"0"	"c.952G>C"	"r.(?)"	"p.(Gly318Arg)"	""
"0000807507"	"00005834"	"30"	"1086"	"10"	"1086"	"10"	"c.1086+10C>G"	"r.(=)"	"p.(=)"	""
"0000807508"	"00005834"	"30"	"1927"	"0"	"1927"	"0"	"c.1927C>T"	"r.(?)"	"p.(Pro643Ser)"	""
"0000854582"	"00005834"	"50"	"1042"	"0"	"1042"	"0"	"c.1042G>A"	"r.(?)"	"p.(Glu348Lys)"	""
"0000864881"	"00005834"	"70"	"1568"	"0"	"1568"	"0"	"c.1568dup"	"r.(?)"	"p.(Tyr523*)"	""
"0000893110"	"00005834"	"70"	"214"	"0"	"214"	"0"	"c.214C>T"	"r.(?)"	"p.(Gln72*)"	""
"0000893111"	"00005834"	"90"	"615"	"0"	"618"	"0"	"c.615_618del"	"r.(?)"	"p.(Lys206Profs*15)"	""
"0000893112"	"00005834"	"50"	"833"	"0"	"833"	"0"	"c.833G>A"	"r.(?)"	"p.(Arg278His)"	""
"0000893113"	"00005834"	"50"	"1543"	"0"	"1543"	"0"	"c.1543C>T"	"r.(?)"	"p.(Arg515Cys)"	""
"0000930634"	"00005834"	"50"	"702"	"0"	"702"	"0"	"c.702G>T"	"r.(?)"	"p.(Glu234Asp)"	""
"0000930635"	"00005834"	"70"	"1025"	"0"	"1025"	"0"	"c.1025G>A"	"r.(?)"	"p.(Arg342His)"	""
"0000930636"	"00005834"	"50"	"1586"	"0"	"1586"	"0"	"c.1586A>G"	"r.(?)"	"p.(Asp529Gly)"	""
"0000931477"	"00005834"	"90"	"1016"	"0"	"1016"	"0"	"c.1016G>A"	"r.(?)"	"p.(Arg339Gln)"	""
"0000950694"	"00005834"	"50"	"232"	"0"	"232"	"0"	"c.232A>G"	"r.(?)"	"p.(Met78Val)"	""
"0000950695"	"00005834"	"50"	"833"	"0"	"833"	"0"	"c.833G>T"	"r.(?)"	"p.(Arg278Leu)"	""
"0000957578"	"00005834"	"50"	"1883"	"0"	"1883"	"0"	"c.1883C>T"	"r.(?)"	"p.(Pro628Leu)"	"11"
"0000981992"	"00005834"	"30"	"702"	"0"	"702"	"0"	"c.702G>T"	"r.(?)"	"p.(Glu234Asp)"	""
"0000981993"	"00005834"	"50"	"1336"	"0"	"1336"	"0"	"c.1336A>G"	"r.(?)"	"p.(Ile446Val)"	""
"0001002478"	"00005834"	"50"	"10"	"0"	"10"	"0"	"c.10G>A"	"r.(?)"	"p.(Asp4Asn)"	""
"0001002479"	"00005834"	"50"	"791"	"0"	"793"	"0"	"c.791_793del"	"r.(?)"	"p.(Lys264del)"	""
"0001002480"	"00005834"	"70"	"886"	"0"	"886"	"0"	"c.886T>G"	"r.(?)"	"p.(Cys296Gly)"	""
"0001002481"	"00005834"	"30"	"1747"	"0"	"1747"	"0"	"c.1747G>A"	"r.(?)"	"p.(Val583Ile)"	""
"0001002482"	"00005834"	"30"	"2116"	"0"	"2116"	"0"	"c.2116C>T"	"r.(?)"	"p.(Pro706Ser)"	""
"0001012721"	"00005834"	"70"	"782"	"-2"	"782"	"-2"	"c.782-2A>T"	"r.spl"	"p.?"	""
"0001015405"	"00005834"	"50"	"142"	"0"	"142"	"0"	"c.142G>T"	"r.(?)"	"p.(Gly48Cys)"	""
"0001015406"	"00005834"	"90"	"1531"	"0"	"1531"	"0"	"c.1531dup"	"r.(?)"	"p.(Ile511Asnfs*20)"	""
"0001018815"	"00005834"	"70"	"1169"	"0"	"1169"	"0"	"c.1169A>G"	"r.(1169A>G)"	"p.(Asp390Gly)"	"6"
"0001026731"	"00005834"	"50"	"638"	"0"	"638"	"0"	"c.638G>A"	"r.(?)"	"p.(Arg213His)"	""
"0001041250"	"00005834"	"30"	"-10"	"3805"	"-10"	"3805"	"c.-10+3805G>T"	"r.(=)"	"p.(=)"	""
"0001041251"	"00005834"	"30"	"-10"	"10682"	"-10"	"10682"	"c.-10+10682G>A"	"r.(=)"	"p.(=)"	""
"0001041252"	"00005834"	"30"	"-9"	"-2986"	"-9"	"-2986"	"c.-9-2986T>C"	"r.(=)"	"p.(=)"	""
"0001041253"	"00005834"	"30"	"236"	"0"	"236"	"0"	"c.236A>G"	"r.(?)"	"p.(Glu79Gly)"	""
"0001041254"	"00005834"	"50"	"370"	"0"	"370"	"0"	"c.370G>A"	"r.(?)"	"p.(Val124Ile)"	""
"0001041255"	"00005834"	"30"	"416"	"0"	"416"	"0"	"c.416A>C"	"r.(?)"	"p.(Glu139Ala)"	""
"0001041256"	"00005834"	"30"	"1519"	"-699"	"1519"	"-699"	"c.1519-699G>A"	"r.(=)"	"p.(=)"	""
"0001041257"	"00005834"	"30"	"1702"	"-216"	"1702"	"-216"	"c.1702-216G>A"	"r.(=)"	"p.(=)"	""
"0001058580"	"00005834"	"90"	"1288"	"0"	"1298"	"0"	"c.1288_1298del"	"r.(?)"	"p.(His430CysfsTer10)"	""
"0001058581"	"00005834"	"70"	"1028"	"0"	"1028"	"0"	"c.1028A>G"	"r.(?)"	"p.(Tyr343Cys)"	""
"0001060154"	"00005834"	"70"	"959"	"0"	"959"	"0"	"c.959G>A"	"r.(?)"	"p.(Arg320His)"	"5"
"0001060300"	"00005834"	"70"	"1025"	"0"	"1025"	"0"	"c.1025G>A"	"r.(?)"	"p.(Arg342His)"	""
"0001060301"	"00005834"	"70"	"1025"	"0"	"1025"	"0"	"c.1025G>A"	"r.(?)"	"p.(Arg342His)"	""
"0001060302"	"00005834"	"70"	"-250903"	"0"	"1229955"	"0"	"c.(?_-250903)_(*1227771_?)del"	"r.0"	"p.0"	""
"0001060303"	"00005834"	"70"	"-8478"	"0"	"503868"	"0"	"c.(?_-8478)_(*501684_?)del"	"r.0?"	"p.0?"	""
"0001060310"	"00005834"	"90"	"375"	"0"	"375"	"0"	"c.375dup"	"r.0"	"p.0"	""
"0001060311"	"00005834"	"90"	"1186"	"0"	"1186"	"0"	"c.1186dup"	"r.1186dup"	"p.Arg396LysfsTer13"	""
"0001060312"	"00005834"	"90"	"1699"	"0"	"1699"	"0"	"c.1699C>T"	"r.1699C>T"	"p.Arg567Trp"	""
"0001060313"	"00005834"	"90"	"0"	"0"	"0"	"0"	"c.-(?_195768)_(*6135_?)del"	"r.0"	"p.0"	""
"0001060314"	"00005834"	"90"	"615"	"0"	"618"	"0"	"c.615_618del"	"r.(?)"	"p.(Lys206ProfsTer15)"	""
"0001060315"	"00005834"	"90"	"615"	"0"	"618"	"0"	"c.615_618del"	"r.(?)"	"p.(Lys206ProfsTer15)"	""
"0001060316"	"00005834"	"90"	"1699"	"0"	"1699"	"0"	"c.1699C>T"	"r.(?)"	"p.(Arg567Trp)"	""
"0001060317"	"00005834"	"90"	"329"	"0"	"329"	"0"	"c.329dup"	"r.(?)"	"p.(Gly111ArgfsTer29)"	""
"0001060320"	"00005834"	"90"	"532"	"0"	"538"	"0"	"c.532_538del"	"r.(?)"	"p.(Leu178LysfsTer42)"	""
"0001060321"	"00005834"	"90"	"778"	"0"	"781"	"0"	"c.778_781del"	"r.(?)"	"p.(Lys260ValfsTer2)"	""
"0001060322"	"00005834"	"90"	"1916"	"0"	"1916"	"0"	"c.1916dup"	"r.(?)"	"p.(Pro640AlafsTer35)"	""
"0001060323"	"00005834"	"90"	"1798"	"0"	"1798"	"0"	"c.1798A>T"	"r.(?)"	"p.(Arg600Ter)"	""
"0001060324"	"00005834"	"90"	"615"	"0"	"618"	"0"	"c.615_618del"	"r.(?)"	"p.(Lys206ProfsTer15)"	""
"0001060325"	"00005834"	"70"	"1079"	"0"	"1079"	"0"	"c.1079G>A"	"r.(?)"	"p.(Ser360Asn)"	""
"0001060326"	"00005834"	"70"	"1168"	"0"	"1168"	"0"	"c.1168G>A"	"r.(?)"	"p.(Asp390Asn)"	""
"0001060327"	"00005834"	"90"	"1670"	"0"	"1674"	"0"	"c.1670_1674del"	"r.(?)"	"p.(Cys557Ter)"	""
"0001060328"	"00005834"	"70"	"1365"	"0"	"1365"	"0"	"c.1365C>G"	"r.(?)"	"p.(His455Gln)"	""
"0001060329"	"00005834"	"70"	"782"	"-2"	"782"	"-2"	"c.782-2A>G"	"r.(782_952del)"	"p.(Val262_Gly318del)"	""
"0001060330"	"00005834"	"90"	"1016"	"0"	"1016"	"0"	"c.1016G>A"	"r.(?)"	"p.(Arg339Gln)"	""
"0001060331"	"00005834"	"70"	"934"	"0"	"934"	"0"	"c.934del"	"r.(?)"	"p.(His312ThrfsTer21)"	""
"0001060332"	"00005834"	"90"	"1016"	"0"	"1016"	"0"	"c.1016G>A"	"r.(?)"	"p.(Arg339Gln)"	""
"0001060333"	"00005834"	"70"	"1262"	"0"	"1267"	"0"	"c.1262_1267del"	"r.(?)"	"p.(Thr421_Met422del)"	""
"0001060334"	"00005834"	"70"	"1288"	"0"	"1288"	"0"	"c.1288C>G"	"r.(?)"	"p.(His430Asp)"	""
"0001060335"	"00005834"	"90"	"1699"	"0"	"1699"	"0"	"c.1699C>T"	"r.(?)"	"p.(Arg567Trp)"	""
"0001060336"	"00005834"	"90"	"1702"	"-1"	"1702"	"-1"	"c.1702-1G>A"	"r.(?)"	"p.?"	""
"0001060337"	"00005834"	"50"	"1114"	"0"	"1114"	"0"	"c.1114T>C"	"r.(?)"	"p.(Ser372Pro)"	""
"0001060338"	"00005834"	"50"	"1114"	"0"	"1114"	"0"	"c.1114T>C"	"r.(?)"	"p.(Ser372Pro)"	""
"0001060339"	"00005834"	"50"	"1114"	"0"	"1114"	"0"	"c.1114T>C"	"r.(?)"	"p.(Ser372Pro)"	""
"0001060340"	"00005834"	"90"	"1673"	"0"	"1675"	"0"	"c.1673_1675delinsTT"	"r.(?)"	"p.(Ser558PhefsTer26)"	""
"0001060341"	"00005834"	"70"	"1079"	"0"	"1079"	"0"	"c.1079G>A"	"r.(?)"	"p.(Ser360Asn)"	""
"0001060342"	"00005834"	"70"	"862"	"0"	"862"	"0"	"c.862C>T"	"r.(?)"	"p.(His288Tyr)"	""
"0001060343"	"00005834"	"90"	"1016"	"0"	"1016"	"0"	"c.1016G>A"	"r.(?)"	"p.(Arg339Gln)"	""
"0001060344"	"00005834"	"90"	"-862850"	"0"	"3164312"	"0"	"c.(?_-862850)_(*3162128_?)del"	"r.0"	"p.0"	""
"0001060345"	"00005834"	"70"	"1623"	"0"	"1623"	"0"	"c.1623C>G"	"r.(?)"	"p.(His541Gln)"	""
"0001060346"	"00005834"	"70"	"1112"	"0"	"1112"	"0"	"c.1112G>C"	"r.(?)"	"p.(Arg371Pro)"	""
"0001060347"	"00005834"	"50"	"1029"	"0"	"1029"	"0"	"c.1029C>A"	"r.(?)"	"p.(Tyr343Ter)"	""
"0001060348"	"00005834"	"50"	"1016"	"0"	"1016"	"0"	"c.1016G>A"	"r.(?)"	"p.(Arg339Gln)"	""
"0001060349"	"00005834"	"90"	"897"	"0"	"898"	"0"	"c.897_898del"	"r.(?)"	"p.(Cys299TrpfsTer15)"	""
"0001060350"	"00005834"	"90"	"1699"	"0"	"1699"	"0"	"c.1699C>T"	"r.(?)"	"p.(Arg567Trp)"	""
"0001060351"	"00005834"	"90"	"1102"	"0"	"1102"	"0"	"c.1102C>T"	"r.(?)"	"p.(Arg368Cys)"	""
"0001060352"	"00005834"	"90"	"615"	"0"	"618"	"0"	"c.615_618del"	"r.(?)"	"p.(Lys206ProfsTer15)"	""
"0001060353"	"00005834"	"90"	"1343"	"0"	"1343"	"0"	"c.1343G>A"	"r.(?)"	"p.(Arg448Gln)"	""
"0001060354"	"00005834"	"70"	"1696"	"0"	"1696"	"0"	"c.1696C>T"	"r.(?)"	"p.(Arg566Cys)"	""
"0001060355"	"00005834"	"70"	"1133"	"0"	"1133"	"0"	"c.1133C>T"	"r.(?)"	"p.(Pro378Leu)"	""
"0001060356"	"00005834"	"90"	"1130"	"0"	"1130"	"0"	"c.1130G>A"	"r.(?)"	"p.(Arg377His)"	""
"0001060357"	"00005834"	"90"	"1130"	"0"	"1130"	"0"	"c.1130G>A"	"r.(?)"	"p.(Arg377His)"	""
"0001060358"	"00005834"	"70"	"1103"	"0"	"1103"	"0"	"c.1103G>A"	"r.(?)"	"p.(Arg368His)"	""
"0001060359"	"00005834"	"90"	"-848141"	"0"	"1290463"	"0"	"c.(?_-848141)_(*1288279_?)del"	"r.0"	"p.0"	""
"0001060360"	"00005834"	"90"	"1102"	"0"	"1102"	"0"	"c.1102C>T"	"r.(?)"	"p.(Arg368Cys)"	""
"0001060361"	"00005834"	"70"	"1003"	"0"	"1003"	"0"	"c.1003G>A"	"r.(?)"	"p.(Gly335Arg)"	""
"0001060362"	"00005834"	"90"	"1756"	"0"	"1756"	"0"	"c.1756del"	"r.(?)"	"p.(Glu586LysfsTer45)"	""
"0001060363"	"00005834"	"70"	"677"	"0"	"677"	"0"	"c.677A>G"	"r.(?)"	"p.(Tyr226Cys)"	""
"0001060364"	"00005834"	"90"	"1016"	"0"	"1016"	"0"	"c.1016G>A"	"r.(?)"	"p.(Arg339Gln)"	""
"0001060365"	"00005834"	"50"	"1207"	"0"	"1207"	"0"	"c.1207G>A"	"r.(?)"	"p.(Gly403Arg)"	""
"0001060368"	"00005834"	"90"	"-496754"	"0"	"530409"	"0"	"c.(?_-496754)_(*528225_?)del"	"r.0"	"p.0"	""
"0001060369"	"00005834"	"90"	"-296754"	"0"	"1230409"	"0"	"c.(?_-296754)_(*1228225_?)del"	"r.0"	"p.0"	""
"0001060370"	"00005834"	"70"	"848"	"0"	"848"	"0"	"c.848G>A"	"r.(?)"	"p.(Arg283His)"	""
"0001060372"	"00005834"	"90"	"1004"	"0"	"1004"	"0"	"c.1004del"	"r.(?)"	"p.(Gly335GlufsTer27)"	""
"0001060373"	"00005834"	"70"	"1016"	"0"	"1016"	"0"	"c.1016G>A"	"r.(?)"	"p.(Arg339Gln)"	""
"0001060374"	"00005834"	"70"	"1024"	"0"	"1024"	"0"	"c.1024C>T"	"r.(?)"	"p.(Arg342Cys)"	""
"0001060375"	"00005834"	"90"	"2000"	"-1"	"2000"	"-1"	"c.2000-1G>A"	"r.spl"	"p.?"	""
"0001060376"	"00005834"	"70"	"1102"	"0"	"1102"	"0"	"c.1102C>T"	"r.(?)"	"p.(Arg368Cys)"	""
"0001060377"	"00005834"	"70"	"1118"	"0"	"1118"	"0"	"c.1118A>T"	"r.(?)"	"p.(His373Leu)"	""
"0001060378"	"00005834"	"70"	"1244"	"0"	"1244"	"0"	"c.1244G>A"	"r.(?)"	"p.(Arg415Gln)"	""
"0001060379"	"00005834"	"90"	"1029"	"0"	"1029"	"0"	"c.1029C>A"	"r.(?)"	"p.(Tyr343Ter)"	""
"0001060380"	"00005834"	"70"	"1094"	"0"	"1094"	"0"	"c.1094A>G"	"r.(?)"	"p.(Lys365Arg)"	""
"0001060381"	"00005834"	"70"	"1129"	"0"	"1129"	"0"	"c.1129C>T"	"r.(?)"	"p.(Arg377Cys)"	""
"0001060382"	"00005834"	"90"	"1039"	"0"	"1039"	"0"	"c.1039del"	"r.(?)"	"p.(His347ThrfsTer15)"	""
"0001066516"	"00005834"	"50"	"1319"	"0"	"1319"	"0"	"c.1319C>A"	"r.(?)"	"p.(Pro440His)"	""
"0001066517"	"00005834"	"50"	"2055"	"0"	"2055"	"0"	"c.2055A>G"	"r.(?)"	"p.(Ile685Met)"	""
"0001071034"	"00005834"	"70"	"1670"	"0"	"1674"	"0"	"c.1670_1674del"	"r.(?)"	"p.(Cys557Ter)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 121
"{{screeningid}}"	"{{variantid}}"
"0000050522"	"0000079502"
"0000050574"	"0000079554"
"0000050619"	"0000079599"
"0000232406"	"0000474812"
"0000232407"	"0000474813"
"0000232408"	"0000474814"
"0000232409"	"0000474815"
"0000232410"	"0000474816"
"0000232411"	"0000474817"
"0000232412"	"0000474818"
"0000232413"	"0000474819"
"0000232414"	"0000474820"
"0000232415"	"0000474821"
"0000232416"	"0000474822"
"0000232417"	"0000474823"
"0000232418"	"0000474824"
"0000232419"	"0000474825"
"0000232420"	"0000474826"
"0000232421"	"0000474827"
"0000232422"	"0000474828"
"0000232423"	"0000474829"
"0000232424"	"0000474830"
"0000232425"	"0000474831"
"0000232426"	"0000474832"
"0000232427"	"0000474833"
"0000232428"	"0000474834"
"0000232429"	"0000474835"
"0000232430"	"0000474836"
"0000232431"	"0000474837"
"0000232432"	"0000474838"
"0000232433"	"0000474839"
"0000232434"	"0000474840"
"0000232436"	"0000474841"
"0000232437"	"0000474842"
"0000232438"	"0000474843"
"0000232439"	"0000474844"
"0000232440"	"0000474845"
"0000232441"	"0000474846"
"0000296824"	"0000653539"
"0000316213"	"0000698363"
"0000321630"	"0000704549"
"0000436810"	"0000931477"
"0000448181"	"0000957578"
"0000458112"	"0001012721"
"0000459875"	"0001018815"
"0000470458"	"0001058580"
"0000470459"	"0001058581"
"0000471844"	"0001060154"
"0000471917"	"0001060300"
"0000471918"	"0001060301"
"0000471919"	"0001060302"
"0000471920"	"0001060303"
"0000471921"	"0001060310"
"0000471922"	"0001060311"
"0000471923"	"0001060312"
"0000471924"	"0001060313"
"0000471925"	"0001060314"
"0000471926"	"0001060315"
"0000471927"	"0001060316"
"0000471928"	"0001060317"
"0000471931"	"0001060320"
"0000471932"	"0001060321"
"0000471933"	"0001060322"
"0000471934"	"0001060323"
"0000471935"	"0001060324"
"0000471936"	"0001060325"
"0000471937"	"0001060326"
"0000471938"	"0001060327"
"0000471939"	"0001060328"
"0000471940"	"0001060329"
"0000471941"	"0001060330"
"0000471942"	"0001060331"
"0000471943"	"0001060332"
"0000471944"	"0001060333"
"0000471945"	"0001060334"
"0000471946"	"0001060335"
"0000471947"	"0001060336"
"0000471948"	"0001060337"
"0000471949"	"0001060338"
"0000471950"	"0001060339"
"0000471951"	"0001060340"
"0000471952"	"0001060341"
"0000471953"	"0001060342"
"0000471954"	"0001060343"
"0000471955"	"0001060344"
"0000471956"	"0001060345"
"0000471957"	"0001060346"
"0000471958"	"0001060347"
"0000471959"	"0001060348"
"0000471960"	"0001060349"
"0000471961"	"0001060350"
"0000471962"	"0001060351"
"0000471963"	"0001060352"
"0000471964"	"0001060353"
"0000471965"	"0001060354"
"0000471966"	"0001060355"
"0000471967"	"0001060356"
"0000471968"	"0001060357"
"0000471969"	"0001060358"
"0000471970"	"0001060359"
"0000471971"	"0001060360"
"0000471972"	"0001060361"
"0000471973"	"0001060362"
"0000471974"	"0001060363"
"0000471975"	"0001060364"
"0000471976"	"0001060365"
"0000471977"	"0001060368"
"0000471978"	"0001060369"
"0000471979"	"0001060370"
"0000471981"	"0001060372"
"0000471982"	"0001060373"
"0000471983"	"0001060374"
"0000471984"	"0001060375"
"0000471985"	"0001060376"
"0000471986"	"0001060377"
"0000471987"	"0001060378"
"0000471988"	"0001060379"
"0000471989"	"0001060380"
"0000471990"	"0001060381"
"0000471991"	"0001060382"
"0000476259"	"0001071034"