### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SIN3A)
# 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}}"
"SIN3A"	"SIN3 transcription regulator homolog A (yeast)"	"15"	"q22.33"	"unknown"	"NC_000015.9"	"UD_132378452733"	""	"https://www.LOVD.nl/SIN3A"	""	"1"	"19353"	"25942"	"607776"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"https://databases.lovd.nl/shared/refseq/SIN3A_NM_001145358.1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2023-10-17 15:53:04"	"00000"	"2025-11-01 13:22:20"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00025859"	"SIN3A"	"transcript variant 1"	"003"	"NM_001145358.1"	""	"NP_001138830.1"	""	""	""	"-357"	"6422"	"3822"	"75744087"	"75661720"	"00006"	"2023-10-17 15:46:42"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{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"
"05515"	"ATOD"	"dermatitis, atopic (ATOD)"	""	""	""	""	""	"00006"	"2018-11-16 12:02:42"	""	""
"05728"	"ECTD"	"dysplasia, ectodermal (ECTD)"	""	""	""	""	""	"00006"	"2020-04-20 19:23:21"	""	""
"05850"	"WITKOS"	"Witteveen-Kolk syndrome (WITKOS), 15q24 del/dup syndrome"	"AD"	"613406"	""	""	""	"00006"	"2020-10-09 12:19:39"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"SIN3A"	"05850"


## Individuals ## Do not remove or alter this header ##
## Count = 63
"{{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}}"
"00111399"	""	""	""	"1"	""	"00729"	"{PMID:Popp 2017:29158550}, {DOI:Popp 2017:10.1038/s41431-017-0022-1}"	""	"F"	""	""	""	"0"	""	""	""	"S_035"
"00313953"	""	""	""	"1"	""	"00006"	"{PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}"	""	"F"	""	""	""	"0"	""	""	""	"Pat1"
"00313954"	""	""	""	"1"	""	"00006"	"{PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}"	""	"F"	""	""	""	"0"	""	""	""	"Pat2"
"00313955"	""	""	""	"1"	""	"00006"	"{PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}"	"patient of naturally conceived, non-identical female twins"	"F"	""	""	""	"0"	""	""	""	"Pat3"
"00313956"	""	""	""	"1"	""	"00006"	"{PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}"	""	"M"	""	""	""	"0"	""	""	""	"Pat4"
"00313957"	""	""	""	"1"	""	"00006"	"{PMID:van Dongen 2020:32783353}, {PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}, {PMID:Coenen-van der Spek 2023:36399132}"	""	"M"	""	""	""	"0"	""	""	""	"Pat3;Pat5:Pat4"
"00313958"	""	""	""	"1"	""	"00006"	"{PMID:van Dongen 2020:32783353}, {PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}, {PMID:Coenen-van der Spek 2023:36399132}"	""	"F"	""	""	""	"0"	""	""	""	"Pat1;Pat6;Pat5"
"00313959"	""	""	""	"3"	""	"00006"	"{PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}"	"2-generation family, 3 affected (F, 2M), index"	"M"	""	""	""	"0"	""	""	""	"FamPat7"
"00313960"	""	""	"00313959"	"1"	""	"00006"	"{PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}"	"sister"	"F"	""	"Ukraine;Germany"	""	"0"	""	""	""	"FamPat8"
"00313961"	""	""	"00313959"	"1"	""	"00006"	"{PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}"	"father"	"M"	""	"Ukraine;Germany"	""	"0"	""	""	""	"FamPat9"
"00313962"	""	""	""	"1"	""	"00006"	"{PMID:van Dongen 2020:32783353}, {PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}, {PMID:Coenen-van der Spek 2023:36399132}"	""	"M"	""	""	""	"0"	""	""	""	"Pat2;Pat10;Pat14"
"00313963"	""	""	""	"3"	""	"00006"	"{PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}, {PMID:Coenen-van der Spek 2023:36399132}"	"2-generation family, 3 affected (F, 2M), index"	"M"	""	""	""	"0"	""	""	""	"FamPat11;Pat17"
"00313964"	""	""	"00313963"	"1"	""	"00006"	"{PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}, {PMID:Coenen-van der Spek 2023:36399132}"	"brother"	"M"	""	""	""	"0"	""	""	""	"FamPat12;Pat16"
"00313965"	""	""	"00313963"	"1"	""	"00006"	"{PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}, {PMID:Coenen-van der Spek 2023:36399132}"	"mother"	"F"	""	""	""	"0"	""	""	""	"FamPat13;Pat18"
"00313966"	""	""	""	"1"	""	"00006"	"{PMID:Mefford 2012:22180641}, {PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}"	""	""	""	""	""	"0"	""	""	""	"Pat13/Pat14"
"00313967"	""	""	""	"1"	""	"00006"	"{PMID:Mefford 2012:22180641}, {PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}"	""	"F"	""	""	""	"0"	""	""	""	"Pat14/Pat15"
"00320134"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00437935"	""	""	""	"1"	""	"04575"	""	""	"F"	"no"	"Ireland"	">38y"	"0"	""	"somatropin, estradiol, norethisterone, levothyroxine"	"white"	""
"00437941"	""	""	""	"1"	""	"00006"	"{PMID:Narumi-Kishimoto 2019:30267900}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	"no"	"Japan"	""	"0"	""	""	""	"patient"
"00437942"	""	""	""	"1"	""	"00006"	"{PMID:Ferrer 2019:31427378}"	"3-generation family, 1 triple affected"	"F"	""	"United States"	""	"0"	""	""	""	"patient"
"00437945"	""	""	""	"1"	""	"00006"	"{PMID:Ercoskun 2021:33142042}"	""	"F"	""	"Turkey"	""	"0"	""	""	""	"patient"
"00437946"	""	""	""	"2"	""	"00006"	"{PMID:Jacobsen 2022:35144002}"	"2-generation family, 2 affected sisters adopted by different families"	"F"	""	"United States"	""	"0"	""	""	""	"PatA/B"
"00437947"	""	""	""	"1"	""	"00006"	"{PMID:Penon-Portmann 2022:36158056}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"United States"	""	"0"	""	""	"Hispanic"	"patient"
"00437948"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat1-DECIPHER278680"
"00437949"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat2-DECIPHER306260"
"00437950"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat3-DECIPHER271952"
"00437951"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat4-DECIPHER262798"
"00437952"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat5-DECIPHER293976"
"00437953"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat6-DECIPHER263709"
"00437954"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat7-DECIPHER307508"
"00437955"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat8-DECIPHER266515"
"00437956"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat9-DECIPHER260388"
"00437957"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat10-DECIPHER264582"
"00437958"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat11-DECIPHER292229"
"00437959"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat12-DECIPHER282105"
"00437960"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat13-DECIPHER282212"
"00437961"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	"M"	""	""	""	"0"	""	""	""	"Pat14-DECIPHER421224"
"00437962"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}, {PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}, {PMID:Coenen-van der Spek 2023:36399132}"	"relative of patient published (Witteveen)"	"F"	""	""	""	"0"	""	""	""	"Pat15-DECIPHER421225;Pat19"
"00437963"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat16-DECIPHER421226"
"00437964"	""	""	""	"1"	""	"00006"	"{PMID:van Dongen 2020:32783353}, {PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}, {PMID:Coenen-van der Spek 2023:36399132}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"Netherlands"	""	"0"	""	""	""	"Pat5;Pat17-DECIPHER421228;Pat6"
"00437965"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}, {PMID:Coenen-van der Spek 2023:36399132}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat18-DECIPHER421229;Pat20"
"00437966"	""	""	""	"1"	""	"00006"	"{PMID:van Dongen 2020:32783353}, {PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}, {PMID:Coenen-van der Spek 2023:36399132}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"Netherlands"	""	"0"	""	""	""	"Pat19-DECIPHER421230;Pat8"
"00437967"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}, {PMID:Coenen-van der Spek 2023:36399132}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat20-DECIPHER421231;Pat15"
"00437968"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat21-DECIPHER421232"
"00437969"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat22-DECIPHER421233"
"00437970"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat23-DECIPHER421234"
"00437971"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat24-DECIPHER421236"
"00437972"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat25-DECIPHER421237"
"00437973"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat26-DECIPHER421238"
"00437974"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat27-DECIPHER421239"
"00437975"	""	""	""	"1"	""	"00006"	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat28-DECIPHER421240"
"00437976"	""	""	""	"1"	""	"00006"	"{PMID:Schnoll 2023:36758531}"	"2-generation family, 1 affected, unaffected parents"	"M"	"no"	"Brazil"	""	"0"	""	""	""	"Pat1"
"00437977"	""	""	""	"1"	""	"00006"	"{PMID:Schnoll 2023:36758531}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	"Brazil"	""	"0"	""	""	""	"Pat2"
"00437983"	""	""	""	"1"	""	"00006"	"{PMID:Coenen-van der Spek 2023:36399132}"	""	"F"	""	""	""	"0"	""	""	""	"Pat1"
"00437984"	""	""	""	"1"	""	"00006"	"{PMID:Coenen-van der Spek 2023:36399132}"	""	"M"	""	""	""	"0"	""	""	""	"Pat2"
"00437985"	""	""	""	"1"	""	"00006"	"{PMID:Coenen-van der Spek 2023:36399132}"	""	"F"	""	""	""	"0"	""	""	""	"Pat3"
"00437986"	""	""	""	"1"	""	"00006"	"{PMID:Coenen-van der Spek 2023:36399132}"	""	"M"	""	""	""	"0"	""	""	""	"Pat7"
"00437987"	""	""	""	"1"	""	"00006"	"{PMID:Coenen-van der Spek 2023:36399132}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"Pat9"
"00437988"	""	""	""	"1"	""	"00006"	"{PMID:Coenen-van der Spek 2023:36399132}"	""	"F"	""	""	""	"0"	""	""	""	"Pat10"
"00437989"	""	""	""	"1"	""	"00006"	"{PMID:Coenen-van der Spek 2023:36399132}"	""	"F"	""	""	""	"0"	""	""	""	"Pat11"
"00437990"	""	""	""	"1"	""	"00006"	"{PMID:Coenen-van der Spek 2023:36399132}"	""	"F"	""	""	""	"0"	""	""	""	"Pat12"
"00437991"	""	""	""	"1"	""	"00006"	"{PMID:Coenen-van der Spek 2023:36399132}"	""	"F"	""	""	""	"0"	""	""	""	"Pat13"
"00466079"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"332225"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 65
"{{individualid}}"	"{{diseaseid}}"
"00111399"	"00139"
"00313953"	"00139"
"00313954"	"00139"
"00313955"	"00139"
"00313956"	"00139"
"00313957"	"00139"
"00313958"	"00139"
"00313959"	"00139"
"00313960"	"00139"
"00313961"	"00139"
"00313962"	"00139"
"00313963"	"00139"
"00313964"	"00139"
"00313965"	"00139"
"00313966"	"00139"
"00313967"	"00139"
"00320134"	"00198"
"00437935"	"05850"
"00437941"	"05850"
"00437942"	"05515"
"00437942"	"05728"
"00437942"	"05850"
"00437945"	"05850"
"00437946"	"05850"
"00437947"	"05850"
"00437948"	"05850"
"00437949"	"05850"
"00437950"	"05850"
"00437951"	"05850"
"00437952"	"05850"
"00437953"	"05850"
"00437954"	"05850"
"00437955"	"05850"
"00437956"	"05850"
"00437957"	"05850"
"00437958"	"05850"
"00437959"	"05850"
"00437960"	"05850"
"00437961"	"05850"
"00437962"	"05850"
"00437963"	"05850"
"00437964"	"05850"
"00437965"	"05850"
"00437966"	"05850"
"00437967"	"05850"
"00437968"	"05850"
"00437969"	"05850"
"00437970"	"05850"
"00437971"	"05850"
"00437972"	"05850"
"00437973"	"05850"
"00437974"	"05850"
"00437975"	"05850"
"00437976"	"00198"
"00437977"	"00198"
"00437983"	"05850"
"00437984"	"05850"
"00437985"	"05850"
"00437986"	"05850"
"00437987"	"05850"
"00437988"	"05850"
"00437989"	"05850"
"00437990"	"05850"
"00437991"	"05850"
"00466079"	"05850"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05515, 05728, 05850
## Count = 63
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000087484"	"00139"	"00111399"	"00729"	"Isolated (sporadic)"	""	"Mild ID, behavioral anomalies (ADHD), obesity, height at 97th centile; mild intellectual disability (HP:0001256); mild global developmental delay (HP:0011342)"	""	""	""	""	""	""	""	""	""	""	""
"0000238252"	"00139"	"00313953"	"00006"	"Isolated (sporadic)"	"29y"	"see paper; ..., intellectual disability (TIQ <70); OFC percentile P0.6–P2; height percentile P2; MRI brain cortical dysgenesis, corpus callosum dysgenesis, white matter abnormalities; autism spectrum disorder; no epilepsy; hearing loss; typical facial dysmorphic features; no ectodermal symptoms"	""	""	""	""	""	""	""	""	"WITKOS"	"intellectual disability"	""
"0000238253"	"00139"	"00313954"	"00006"	"Isolated (sporadic)"	"4y9m"	"see paper; ..., intellectual disability (TIQ <70); OFC percentile P3; height percentile P25; MRI brain cortical dysgenesis, corpus callosum dysgenesis, white matter abnormalities; no autism spectrum disorder; epilepsy; no skeletal abnormalities; no hearing loss; typical facial dysmorphic features; thin hair"	""	""	""	""	""	""	""	""	"WITKOS"	"intellectual disability"	""
"0000238254"	"00139"	"00313955"	"00006"	"Isolated (sporadic)"	"4y"	"see paper; ..., intellectual disability (TIQ <70); OFC percentile P10; height percentile P5; no autism spectrum disorder; no epilepsy; hypermobile joints; no hearing loss; typical facial dysmorphic features; thin hair"	""	""	""	""	""	""	""	""	"WITKOS"	"intellectual disability"	""
"0000238255"	"00139"	"00313956"	"00006"	"Isolated (sporadic)"	"3y8m"	"see paper; ..., intellectual disability (TIQ <70); OFC percentile P25; height percentile P16; no autism spectrum disorder; no epilepsy; no skeletal abnormalities; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms"	""	""	""	""	""	""	""	""	"WITKOS"	"intellectual disability"	""
"0000238256"	"00139"	"00313957"	"00006"	"Isolated (sporadic)"	"7y"	"see paper; ..., intellectual disability (TIQ <70); OFC percentile P16; height percentile <P0.6; MRI brain cortical dysgenesis, white matter abnormalities, ventricle dilatation; autism spectrum disorder; epilepsy; hypermobile joints; hearing loss; typical facial dysmorphic features; thin hair, brittle nails, teeth anomalies"	""	""	""	""	""	""	""	""	"WITKOS"	"intellectual disability"	""
"0000238257"	"00139"	"00313958"	"00006"	"Isolated (sporadic)"	"14y"	"see paper; ..., intellectual disability (TIQ <70); OFC percentile P75; height percentile P50; MRI brain ventricle dilatation; autism spectrum disorder; epilepsy; hypermobile joints; hearing loss; typical facial dysmorphic features; no ectodermal symptoms"	""	""	""	""	""	""	""	""	"WITKOS"	"intellectual disability"	""
"0000238258"	"00139"	"00313959"	"00006"	"Familial, autosomal dominant"	"16y3m"	"see paper; ..., intellectual disability (TIQ <70); OFC percentile <P3; height percentile <P3; no autism spectrum disorder; no epilepsy; delayed bone age; no hearing loss; typical facial dysmorphic features"	""	""	""	""	""	""	""	""	"WITKOS"	"intellectual disability"	""
"0000238259"	"00139"	"00313960"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., intellectual disability (TIQ <70); hearing loss; typical facial dysmorphic features"	""	""	""	""	""	""	""	""	"WITKOS"	"intellectual disability"	""
"0000238260"	"00139"	"00313961"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., borderline intellectual disability; OFC percentile P50; height percentile P50; no epilepsy; no hearing loss; typical facial dysmorphic features"	""	""	""	""	""	""	""	""	"WITKOS"	"intellectual disability"	""
"0000238261"	"00139"	"00313962"	"00006"	"Isolated (sporadic)"	"9y5m"	"see paper; ..., intellectual disability (TIQ <70); OFC percentile P50; height percentile P50–75; MRI brain corpus callosum dysgenesis, ventricle dilatation; autism spectrum disorder; no epilepsy; hypermobile joints; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms"	""	""	""	""	""	""	""	""	"WITKOS"	"intellectual disability"	""
"0000238262"	"00139"	"00313963"	"00006"	"Familial, autosomal dominant"	"4y9m"	"see paper; ..., intellectual disability (TIQ <70); OFC percentile P3 (index); height percentile <P0.6; no epilepsy; clinidactyly; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms"	""	""	""	""	""	""	""	""	"WITKOS"	"intellectual disability"	""
"0000238263"	"00139"	"00313964"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., intellectual disability (TIQ <70); OFC percentile <P0.6; height percentile P2; MRI brain cortical dysgenesis; autism spectrum disorder; no epilepsy; clinidactyly; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms"	""	""	""	""	""	""	""	""	"WITKOS"	"intellectual disability"	""
"0000238264"	"00139"	"00313965"	"00006"	"Unknown"	""	"see paper; ..., borderline intellectual disability; height percentile <P0.6; no epilepsy; no skeletal abnormalities; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms"	""	""	""	""	""	""	""	""	"WITKOS"	"intellectual disability"	""
"0000238265"	"00139"	"00313966"	"00006"	"Isolated (sporadic)"	"20y"	"see paper; ..., intellectual disability (TIQ <70); OFC percentile P3; height percentile P50-P75; no autism spectrum disorder; hypermobile joints; typical facial dysmorphic features"	""	""	""	""	""	""	""	""	"WITKOS"	"intellectual disability"	""
"0000238266"	"00139"	"00313967"	"00006"	"Isolated (sporadic)"	"9y5m"	"see paper; ..., no intellectual disability (TIQ <70); OFC percentile P10–P15; height percentile P3; MRI brain corpus callosum dysgenesis, ventricle dilatation; autism spectrum disorder; delayed bone age; typical facial dysmorphic features"	""	""	""	""	""	""	""	""	"WITKOS"	"intellectual disability"	""
"0000242180"	"00198"	"00320134"	"01807"	"Unknown"	""	"Behavioral abnormality (HP:0000708); Intellectual disability (HP:0001249); Short stature (HP:0004322)"	""	""	""	""	""	""	""	""	""	""	""
"0000327840"	"05850"	"00437935"	"04575"	"Familial, autosomal dominant"	"28y"	"Motor delay (HP:0001270), Delayed speech and language development (HP:0000750), Decreased head circumference (HP:0040195), Hypotonia (HP:0001252), Feeding difficulties (HP:0011968), Intellectual disability, mild (HP:0001256), Short stature (HP:0004322), Abnormal facial shape (HP:0001999), Myopathy (HP:0003198), Hypogonadotropic hypogonadism (HP:0000044), Primary amenorrhea (HP:0000786), Hypothyroidism (HP:0000821), Gowers sign (HP:0003391), EMG abnormality (HP:0003457), High forehead (HP:0000348), Pointed chin (HP:0000307), (Small hand HP:0200055), Downslanted palpebral fissures (HP:0000494)"	"10y-17y"	"37y"	"Primary amenorrhea (HP:0000786), Hypogonadotropic hypogonadism (HP:0000044)"	""	""	""	""	""	"Witteveen-Kolk syndrome (OMIM #613406)"	"hypogonadotropic hypogonadism, Kallman syndrome, congenital myopathy"	""
"0000327848"	"05850"	"00437941"	"00006"	"Isolated (sporadic)"	"07y"	"see paper; ..."	""	""	""	""	""	""	""	""	"WITKOS"	"Witteveen-Kolk syndrome"	""
"0000327849"	"05850"	"00437942"	"00006"	"Isolated (sporadic)"	"17y"	"see paper; ..., motor delay, speech delay, scoliosis, distinctive craniofacial features (prominent forehead, epicanthus, depressed nasal bridge, narrow mouth, prognathism, malar flattening, oligodontia), dry skin; family history dry skin mother, missing teeth paternal grandmother"	""	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327852"	"05850"	"00437945"	"00006"	"Unknown"	"07y"	"see paper; ..., intellectual disability, short stature, dysmorphic facial features, long face, prominent forehead, smooth-long philtrum, broad eyebrows, retrognathia, malformed ears, MRI brain anomalies, no epilepsy, autism spectrum disorder, no digital anomaly, no microcephaly, no joint laxity"	""	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327853"	"05850"	"00437946"	"00006"	"Unknown"	"02y-07y"	"see paper; ..., juvenile glaucoma secondary to increased corneal diameters, facial features characteristic of Witteveen-Kolk syndrome (broad, tall forehead, small mouth, thin upper lip, pointed chin), born with cleft palate, mild speech delay, developmental delay"	""	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327854"	"05850"	"00437947"	"00006"	"Isolated (sporadic)"	"03y"	"see paper; ..."	""	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327855"	"05850"	"00437948"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 40w, weight 2.75 (-1.5); no hypotonia; feeding difficulties; NG feeding; moderate intellectual disability; global developmental delay; language delay; 12m-sit unassisted; 24m-first steps; neurological hypotonia; scoliosis, strabismus, ataxic gait; MRI brain cerebellar atrophy; donwslanted pf; broad nasal tip, short nose; narrow mouth; infra-orbital crease; frontal bossing; vomiting, compensatory scoliosis, strabismus"	"1y6m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327856"	"05850"	"00437949"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 37w, weight 2.097 (-2); hypotonia; feeding difficulties; NG feeding; moderate/severe intellectual disability; global developmental delay; language delay, 4ylanguage delay, 3y-first words; 5y-first steps; possible autism spectrum disorder; neurological hypotonia; ?epilepsy, EEG normal; MRI brain ventriculomegaly, ?colpocephaly, foci high signal white matter, dilation lateral ventricles; epicanthus inversus, hypotelorism;  narrow mouth; unilateral  tag on lobe; high anterior hairline; frontal bossing; generalized hypopigmentation, micrognathia; apnoea, cow\'s milk protein intolerance, nystagmus secondary to oculocutaneous albinism,"	"1y3m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327857"	"05850"	"00437950"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 42w, weight 3.686 (0.6); hypotonia; feeding difficulties; mild intellectual disability; global developmental delay; language delay, 12mlanguage delay, 3y-first words; 21m-first steps; ADHD; neurological hypotonia; ; abnormal facial shape; joint hypermobility"	"8y4m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327858"	"05850"	"00437951"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 39w, weight 3.23 (-0.5); hypotonia; feeding difficulties; UTI at 2 weeks, unilateral renal scar; no intellectual disability; global developmental delay; language delay, 2y6mlanguage delay, 3y-first words; 12m-sit unassisted; 18m-first steps; high functioning autism; aggressive behavior, developmental coordination disorder; no neurological hypotonia; ; small nose; small; triangular face, pointed when seen prominent but not pointed chin; broad forehead, mandibular prognathia; constipation, sacral dimple, bilateral little finger clinodactyly, hallux valgus, 2nd toe overrides first and third bilaterally.  hirsute on back as baby.  pes planus, hypermobile in ankles"	"13y6m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327859"	"05850"	"00437952"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 39w, weight 2.55 (-1.9); hypotonia; feeding difficulties; moderate intellectual disability; global developmental delay; language delay, 3y-first words; motor delay; 18m -sit unassisted; 22m-first steps; no psychiatric diagnosis; no neurological hypotonia; no epilepsy; MRI brain no structural abnormality, numerous foci of high T2 signal peritrigonal and frontal lobe bilaterally (nonspecific) ; hypertelorism; prominent nasal bridge; relatively prominent lobes; triangular face.  prominent chin.  tight curly hair, plagiocephaly.; broad forehead,; mild pectus excavatum.  left inguinal hernia (had herniotomy).  sacral dimple (normal mri spine).  bilateral 5th finger clinodactyly and brachydactyly.  toes 3rd / 4th / 5th clinodactyly bilaterally, 2nd toe overrides 3rd bilaterally.  tight curly hair, plagiocephaly. echolalia"	"10y7m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327860"	"05850"	"00437953"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 42w, weight 3.345 (-0.43); ; global developmental delay; language delay, 3y-first words; 12m-sit unassisted; 2y6m-03y-first steps; no neurological hypotonia; ; thin upper lip vermilion; long philtrum; broad finger, carious teeth, eczema, failure to thrive, mild conductive hearing impairment, obstructive sleep apnoea, short foot, submucous cleft hard palate, bifid uvula"	"5y5m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327861"	"05850"	"00437954"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 39w, weight 2.525 (-1.8); no feeding difficulties; global developmental delay; language delay, no first words yet; 6m-sit unassisted; not yet achieved-first steps; neurological hypotonia; ; epicanthus;  failure to thrive,  plagiocephaly,  snhl"	"8m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327862"	"05850"	"00437955"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 40w, weight 2.721 (-1.76); feeding difficulties; global developmental delay; language delay; 8m-sit unassisted; 18m-first steps; no neurological hypotonia; ; thin vermilion border; abnormal facial shape;  hypermelanotic macule, short foot, short palm, sparse hair"	"7y3m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327863"	"05850"	"00437956"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 41w, weight 2.92 (-1.33); feeding difficulties; moderate intellectual disability; global developmental delay; 12m--first words; 9m -sit unassisted; 16m-first steps; hyperactive behaviour; no neurological hypotonia; no epilepsy; MRI brain normal; deeply set eye, epicanthus inversus; uplifted earlobe; flat forehead; sparse scalp hair when young, ongoing difficulties with sucking, chewing and coordination of eating, poor sleep"	"5y"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327864"	"05850"	"00437957"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 41w, weight 2.891 (-1.39); no feeding difficulties; global developmental delay; 2y6m-sit unassisted; not yet achieved-first steps; no neurological hypotonia; ; downslanted pf, epicanthus; depressed nasal ridge; narrow mouth; abnormality of the palmar creases, aplasia cutis congenita over the scalp vertex, capillary hemangiomas, reduced subcutaneous adipose tissue"	"3y3m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327865"	"05850"	"00437958"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 38w, weight 2.126 (-2.19); no hypotonia; no feeding difficulties; moderate intellectual disability; global developmental delay; language delay, 19m--first words; expressive; 10m-sit unassisted; 20m-first steps; no psychiatric diagnosis; behaviour immature; no neurological hypotonia; febrile seziures; ;"	"7y11m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327866"	"05850"	"00437959"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 37w, weight 2.98 (0.47); feeding difficulties; ; 8m-sit unassisted; 12m-first steps; ADHD; aggressive behavior, sensory disorder, recurring obsessions; no neurological hypotonia; ; broad forehead; short chin; clinodactyly of the 5th finger, overlapping toe"	"4y7m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327867"	"05850"	"00437960"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 41w, weight 3.118 (-0.91); no hypotonia; no feeding difficulties; mild intellectual disability; no global developmental delay; 12m-first words; 10m-first steps; ADHD; no neurological hypotonia; no epilepsy; epicanthus; depressed nasal bridge;  brachytelomesophalangy, short digit, flat occiput"	"9y2m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327868"	"05850"	"00437961"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., birth 41w, weight 4.03 (1.025); no hypotonia; no feeding difficulties; moderate intellectual disability; global developmental delay; receptive > expressive ; 2y-first steps; no psychiatric diagnosis; no neurological hypotonia; epilepsy, EEG abnormal; MRI brain thinning posterior body corpus callosum;"	"25y"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327869"	"05850"	"00437962"	"00006"	"Unknown"	""	"see paper; ..., ; intellectual disability below average; no global developmental delay; not receptive > expressive; no psychiatric diagnosis; no neurological hypotonia; no epilepsy; ; 2dvt, cystocele and urethrocele, evar prosthesis, hernia cicatriccalis, sigmoïd adenocarcinoma"	"67y"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327870"	"05850"	"00437963"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 41w; no hypotonia; no feeding difficulties; Scoliosis noted at birth; mild intellectual disability; global developmental delay; receptive > expressive ; 18m-first steps; no psychiatric diagnosis; no neurological hypotonia; no epilepsy; large ears; 8y-Burkitt lymphoma,, fifth fingers clinodactyly"	"11y1m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327871"	"05850"	"00437964"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 32w+6, weight 1.58 (-0.88); no hypotonia; feeding difficulties; Hyperbilirubinemia, IRDS, apnoea; mild intellectual disability (IQ71); global developmental delay; 1y-language delay; receptive > expressive ; 9m-sit unassisted; 2y-first steps; no psychiatric diagnosis; no neurological hypotonia; no epilepsy; sleeping problems; orofacial cleft, conductive hearing loss"	"8y1m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327872"	"05850"	"00437965"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 42w; no hypotonia; no feeding difficulties; moderate intellectual disability (IQ60); no global developmental delay; no language delay; receptive > expressive ; 18m-first steps; no psychiatric diagnosis; epilepsy; ;"	"36y3m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327873"	"05850"	"00437966"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., ; no hypotonia; feeding difficulties; mild intellectual disability; ; autism spectrum disorder, pyschosis; no neurological hypotonia; no epilepsy; sleeping problems; thickened aortic valve"	"22y1m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327874"	"05850"	"00437967"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 42w, weight normal; hypotonia; feeding difficulties; no intellectual disability (IQ93); receptive > expressive ; psychiatric diagnosis (McDD subtype), anxiety disorder; neurological hypotonia; no epilepsy; ;"	"24y2m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327875"	"05850"	"00437968"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth at term, weight normal; hypotonia; no feeding difficulties; no intellectual disability (IQ100); ; schizoaffective disorder; no neurological hypotonia; no epilepsy; ; pelvic kidney, palate defect,  4y-left cdh diagnosis"	"19y"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327876"	"05850"	"00437969"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., ; no intellectual disability; mild receptive > expressive; ; neurological hypotonia; epilepsy; MRI brain normal; mild downslanted pf; high and broad forehead; prominent chin;"	"10y"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327877"	"05850"	"00437970"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 36w+6, weight 1.899 (-1.5); hypotonia; feeding difficulties; no language delay; receptive > expressive ; 9m-sit unassisted; 11m-not yet unassisted first steps; neurological hypotonia; EEG normal"	"7m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327878"	"05850"	"00437971"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 41w+5, weight 3.3 (-0.56); hypotonia; feeding difficulties; global developmental delay; receptive > expressive ; not yet sit unassisted; not yet achieved-first steps; neurological hypotonia; epilepsy, EEG normal; paroxysmal tonic upgaze; MRI brain normal; elevated liver enzymes"	"1y6m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327879"	"05850"	"00437972"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 40w, weight 2.8 (-1.69); no hypotonia; feeding difficulties; Gastro-oesophageal reflux; no intellectual disability (IQ86); no global developmental delay; 1y-language delay; receptive > expressive ; 22m-first steps; no psychiatric diagnosis; no neurological hypotonia; no epilepsy; MRI brain enlarged cerebral spaces;"	"6y"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327880"	"05850"	"00437973"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 40w, weight 2.3 (-2.87); hypotonia; feeding difficulties; severe intellectual disability; non-verbal; receptive > expressive ; 2.5y-first steps; autism spectrum disorder; neurological hypotonia; no epilepsy; MRI brain dysplastic, ventriculomegaly; multiple vsds; bilateral iris and chorioretinal coloboma; deafness (mixed hearing loss); immunodeficiency (bronchiectasis, t cell lymphopenia, low iga, igg"	"11y4m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327881"	"05850"	"00437974"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 40w, weight 2.76 (-2.5); hypotonia; no feeding difficulties; mild intellectual disability (IQ78); no global developmental delay; no language delay, 12m-first words; receptive > expressive ; 17m-first steps; ADHD; neurological hypotonia; no epilepsy; MRI brain ventriculomegaly, Chiari 1 malformation, headaches; flat midface; high and broad forehead; plagiocephaly, recurrent otitis media (transtympanic drains needed), amigdalectomy,  asthma, scoliosis, chiari i malformation that needed surgery"	"19y"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327882"	"05850"	"00437975"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., birth 41w+3 , weight 2.95 (-1.126); no hypotonia; No; Joint laxity, Unilateral hypermetropia ; mild intellectual disability; mild global developmental delay; language delay, 11m-first words; receptive > expressive ; mild motor delay; 5msit unassisted; 14m-first steps; no psychiatric diagnosis; neurological hypotonia; no epilepsy; MRI brain 3y-normal; hypotelorism; small nasal bridge; small mouth, thin lips, small incisors and relatively large canines; normal; flat midface; relatively short fingers; clinodactyly, widened sandal gap, right great toe angled towards lateral edge of foot, glue ear, multiple dental caries"	"6y6m"	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327883"	"00198"	"00437976"	"00006"	"Unknown"	"48y"	"see paper; ..., no spontaneous pubertal development, unilateral cryptorchidism (surgically corrected), anosmia (posteriorly formal olfactory test), bilateral neurosensorial partial hearing impairmen (audiometry and auditory evoked potentials), mild cognitive delay"	""	""	""	""	""	""	""	""	""	"Kallmann syndrome"	""
"0000327884"	"00198"	"00437977"	"00006"	"Unknown"	"11y"	"see paper; ..., short stature, central obesity, mild-moderate cognitive impairment, no motor developmental delay"	""	""	""	""	""	""	""	""	""	""	""
"0000327887"	"05850"	"00437983"	"00006"	"Unknown"	"07y"	"developmental delay; intellectual disability; speech delay; behavioral problems; hypotonia; feeding difficulties; head circumference below −2SD, height not below −2SD; MRI brain normal; no epilepsy; skeletal abnormalities; hearing loss; typical facial dysmorphic features; ectodermal symptoms; bifid uvula, submucous cleft palate and velopharyngeal insufficiency, sleep apnea, alternating exotropia"	""	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327888"	"05850"	"00437984"	"00006"	"Isolated (sporadic)"	"2y2m"	"developmental delay; speech delay; no behavioral problems; hypotonia; feeding difficulties; head circumference below −2SD, height not below −2SD; no epilepsy; no skeletal abnormalities; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms"	""	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327889"	"05850"	"00437985"	"00006"	"Unknown"	"6y8m"	"developmental delay; intellectual disability; speech delay; behavioral problems; hypotonia; feeding difficulties; head circumference below −2SD, height not below −2SD; MRI brain abnormal; no epilepsy; skeletal abnormalities; no hearing loss; typical facial dysmorphic features; ectodermal symptoms; premature birth, dysautonomia"	""	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327890"	"05850"	"00437986"	"00006"	"Isolated (sporadic)"	"6y8m"	"developmental delay; no intellectual disability; speech delay; behavioral problems; hypotonia; feeding difficulties; head circumference not below −2SD, height not below −2SD; MRI brain abnormal; no epilepsy; skeletal abnormalities; no hearing loss; no ectodermal symptoms; high palate, atrial septal defect, hyperextensible joints, hypopigmented skin lesions, frequent falling"	""	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327891"	"05850"	"00437987"	"00006"	"Familial"	"19y"	"developmental delay; intellectual disability; speech delay; no behavioral problems; hypotonia; no feeding difficulties; head circumference not below −2SD, height not below −2SD; no epilepsy; skeletal abnormalities; no typical facial dysmorphic features; premature birth, hypogonadrotropic hypogonadism, diabetes mellitus"	""	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327892"	"05850"	"00437988"	"00006"	"Isolated (sporadic)"	"1y8m"	"developmental delay; speech delay; no behavioral problems; hypotonia; feeding difficulties; head circumference below −2SD, height not below −2SD; no epilepsy; no skeletal abnormalities; hearing loss; typical facial dysmorphic features; no ectodermal symptoms; atrial septal defect, sacral dimple; maternally inherited 22q12.2 duplication"	""	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327893"	"05850"	"00437989"	"00006"	"Familial"	"02y01m"	"developmental delay; speech delay; no behavioral problems; no hypotonia; feeding difficulties; head circumference below −2SD, height below −2SD; MRI brain abnormal; epilepsy; no skeletal abnormalities; no hearing loss; typical facial dysmorphic features; ectodermal symptoms; premature birth, Pierre Robin sequence, cleft soft palate"	""	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327894"	"05850"	"00437990"	"00006"	"Unknown"	"31y"	"no developmental delay; no intellectual disability; no speech delay; no behavioral problems; no hypotonia; no feeding difficulties; head circumference not below −2SD, height not below −2SD; MRI brain aormal; no epilepsy; skeletal abnormalities; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms"	""	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000327895"	"05850"	"00437991"	"00006"	"Unknown"	"32y"	"no developmental delay; no intellectual disability; no speech delay; behavioral problems; no hypotonia; no feeding difficulties; head circumference not below −2SD, height below −2SD; MRI brain abnormal; epilepsy; skeletal abnormalities; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms; possible narcolepsy, memory concerns, fatigue, muscle weakness, paresthesias, gait instability"	""	""	""	""	""	""	""	""	"WITKOS"	""	""
"0000351463"	"05850"	"00466079"	"01164"	"Isolated (sporadic)"	"04y"	"Abnormality of the face, Epicanthus, Motor delay, Hypotonia, Dysphagia, Pectus excavatum, Genu valgum, Joint hypermobility, Decreased body weight, Ventriculomegaly"	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 63
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000111864"	"00111399"	"1"	"00729"	"00729"	"2017-08-03 01:08:32"	""	""	"SEQ-NG"	"DNA"	""	""
"0000315126"	"00313953"	"1"	"00006"	"00006"	"2020-10-09 15:12:14"	""	""	"arrayCGH"	"DNA"	""	"Agilent 105K oligo array"
"0000315127"	"00313954"	"1"	"00006"	"00006"	"2020-10-09 15:12:14"	""	""	"arrayCGH"	"DNA"	""	"Agilent 105K oligo array"
"0000315128"	"00313955"	"1"	"00006"	"00006"	"2020-10-09 15:12:14"	""	""	"arrayCGH"	"DNA"	""	"Agilent 8 × 60k platform"
"0000315129"	"00313956"	"1"	"00006"	"00006"	"2020-10-09 15:12:14"	""	""	"arrayCGH"	"DNA"	""	"Agilent 8 × 60k platform"
"0000315130"	"00313957"	"1"	"00006"	"00006"	"2020-10-09 15:12:14"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000315131"	"00313958"	"1"	"00006"	"00006"	"2020-10-09 15:12:14"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000315132"	"00313959"	"1"	"00006"	"00006"	"2020-10-09 15:12:14"	""	""	"SEQ"	"DNA"	""	"WES"
"0000315133"	"00313960"	"1"	"00006"	"00006"	"2020-10-09 15:12:14"	""	""	"SEQ"	"DNA"	""	""
"0000315134"	"00313961"	"1"	"00006"	"00006"	"2020-10-09 15:12:14"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000315135"	"00313962"	"1"	"00006"	"00006"	"2020-10-09 15:12:14"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000315136"	"00313963"	"1"	"00006"	"00006"	"2020-10-09 15:12:14"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000315137"	"00313964"	"1"	"00006"	"00006"	"2020-10-09 15:12:14"	""	""	"SEQ"	"DNA"	""	""
"0000315138"	"00313965"	"1"	"00006"	"00006"	"2020-10-09 15:12:14"	""	""	"SEQ"	"DNA"	""	""
"0000315139"	"00313966"	"1"	"00006"	"00006"	"2020-10-09 15:12:14"	""	""	"arrayCGH"	"DNA"	""	""
"0000315140"	"00313967"	"1"	"00006"	"00006"	"2020-10-09 15:12:14"	""	""	"arrayCGH"	"DNA"	""	""
"0000321319"	"00320134"	"1"	"01807"	"01807"	"2020-11-23 17:34:07"	""	""	"SEQ"	"DNA"	""	""
"0000439419"	"00437935"	"1"	"04575"	"04575"	"2023-10-16 21:42:11"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"WES"
"0000439425"	"00437941"	"1"	"00006"	"00006"	"2023-10-17 16:21:30"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439426"	"00437942"	"1"	"00006"	"00006"	"2023-10-17 16:40:14"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439429"	"00437945"	"1"	"00006"	"00006"	"2023-10-17 17:02:51"	""	""	"arrayCGH"	"DNA"	""	""
"0000439430"	"00437946"	"1"	"00006"	"00006"	"2023-10-17 17:12:32"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439431"	"00437947"	"1"	"00006"	"00006"	"2023-10-17 17:17:23"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439432"	"00437948"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439433"	"00437949"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439434"	"00437950"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439435"	"00437951"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439436"	"00437952"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439437"	"00437953"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439438"	"00437954"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439439"	"00437955"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439440"	"00437956"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439441"	"00437957"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439442"	"00437958"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439443"	"00437959"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439444"	"00437960"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439445"	"00437961"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439446"	"00437962"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439447"	"00437963"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439448"	"00437964"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439449"	"00437965"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439450"	"00437966"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439451"	"00437967"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439452"	"00437968"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439453"	"00437969"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439454"	"00437970"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439455"	"00437971"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439456"	"00437972"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439457"	"00437973"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439458"	"00437974"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439459"	"00437975"	"1"	"00006"	"00006"	"2023-10-17 21:19:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439460"	"00437976"	"1"	"00006"	"00006"	"2023-10-17 21:48:39"	""	""	"arrayCGH"	"DNA"	""	""
"0000439461"	"00437977"	"1"	"00006"	"00006"	"2023-10-17 21:53:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439463"	"00437983"	"1"	"00006"	"00006"	"2023-10-19 11:25:50"	""	""	"arrayCGH"	"DNA"	""	""
"0000439464"	"00437984"	"1"	"00006"	"00006"	"2023-10-19 11:35:55"	""	""	"arrayCGH"	"DNA"	""	""
"0000439465"	"00437985"	"1"	"00006"	"00006"	"2023-10-19 11:40:27"	""	""	"arrayCGH"	"DNA"	""	""
"0000439467"	"00437986"	"1"	"00006"	"00006"	"2023-10-19 11:44:38"	"00006"	"2023-10-19 11:52:27"	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439468"	"00437987"	"1"	"00006"	"00006"	"2023-10-19 11:49:38"	"00006"	"2023-10-19 11:51:57"	"SEQ;SEQ-NG"	"DNA"	""	""
"0000439469"	"00437988"	"1"	"00006"	"00006"	"2023-10-19 11:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439470"	"00437989"	"1"	"00006"	"00006"	"2023-10-19 11:59:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439471"	"00437990"	"1"	"00006"	"00006"	"2023-10-19 12:03:34"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439472"	"00437991"	"1"	"00006"	"00006"	"2023-10-19 12:07:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000467736"	"00466079"	"1"	"01164"	"01164"	"2025-07-31 15:53:07"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 17
"{{screeningid}}"	"{{geneid}}"
"0000111864"	"SIN3A"
"0000315126"	"SIN3A"
"0000315127"	"SIN3A"
"0000315128"	"SIN3A"
"0000315129"	"SIN3A"
"0000315130"	"SIN3A"
"0000315131"	"SIN3A"
"0000315132"	"SIN3A"
"0000315133"	"SIN3A"
"0000315134"	"SIN3A"
"0000315135"	"SIN3A"
"0000315136"	"SIN3A"
"0000315137"	"SIN3A"
"0000315138"	"SIN3A"
"0000315139"	"SIN3A"
"0000315140"	"SIN3A"
"0000467736"	"SIN3A"


## 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 = 123
"{{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}}"
"0000179022"	"0"	"90"	"15"	"75676686"	"75676687"	"del"	"0"	"00729"	"SIN3A_000001"	"g.75676686_75676687del"	""	""	""	""	""	"Germline/De novo (untested)"	"yes"	""	"0"	""	""	"g.75384345_75384346del"	""	"pathogenic"	""
"0000324217"	"0"	"30"	"15"	"75676667"	"75676667"	"subst"	"4.06931E-6"	"01804"	"SIN3A_000002"	"g.75676667G>A"	""	""	""	"SIN3A(NM_001145358.1):c.3133C>T (p.(Leu1045Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75384326G>A"	""	"likely benign"	""
"0000341714"	"0"	"50"	"15"	"75673043"	"75673043"	"subst"	"0"	"02327"	"SIN3A_000006"	"g.75673043G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75380702G>A"	""	"VUS"	""
"0000343013"	"0"	"70"	"15"	"75694234"	"75694235"	"del"	"0"	"02327"	"SIN3A_000009"	"g.75694234_75694235del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75401893_75401894del"	""	"likely pathogenic"	""
"0000347728"	"0"	"70"	"15"	"75673036"	"75673036"	"subst"	"0"	"02327"	"SIN3A_000005"	"g.75673036A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75380695A>G"	""	"likely pathogenic"	""
"0000351362"	"0"	"90"	"15"	"75673050"	"75673050"	"subst"	"0"	"02327"	"SIN3A_000007"	"g.75673050G>C"	""	""	""	"SIN3A(NM_001145357.1):c.3303C>G (p.(Tyr1101Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75380709G>C"	""	"pathogenic"	""
"0000555504"	"0"	"50"	"15"	"75656954"	"75656954"	"subst"	"0"	"01804"	"MAN2C1_000006"	"g.75656954C>T"	""	""	""	"MAN2C1(NM_001256494.1):c.475G>A (p.(Gly159Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75364613C>T"	""	"VUS"	""
"0000555505"	"0"	"50"	"15"	"75673984"	"75673986"	"del"	"0"	"01804"	"SIN3A_000012"	"g.75673984_75673986del"	""	""	""	"SIN3A(NM_001145358.1):c.3259_3261del (p.(Glu1087del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75381643_75381645del"	""	"VUS"	""
"0000555506"	"0"	"30"	"15"	"75684814"	"75684814"	"subst"	"4.06138E-6"	"01804"	"SIN3A_000013"	"g.75684814G>C"	""	""	""	"SIN3A(NM_001145357.1):c.2620C>G (p.(Gln874Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75392473G>C"	""	"likely benign"	""
"0000555507"	"0"	"70"	"15"	"75687179"	"75687179"	"subst"	"0"	"02327"	"SIN3A_000014"	"g.75687179G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75394838G>A"	""	"likely pathogenic"	""
"0000555508"	"0"	"90"	"15"	"75688626"	"75688626"	"dup"	"0"	"02325"	"SIN3A_000015"	"g.75688626dup"	""	""	""	"SIN3A(NM_001145358.2):c.2067dupC (p.I690Hfs*8)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75396285dup"	""	"pathogenic"	""
"0000555509"	"0"	"70"	"15"	"75705323"	"75705327"	"del"	"0"	"01804"	"SIN3A_000016"	"g.75705323_75705327del"	""	""	""	"SIN3A(NM_001145358.1):c.533_537delTGATA (p.(Leu178fs))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75412982_75412986del"	""	"likely pathogenic"	""
"0000615538"	"0"	"30"	"15"	"75676597"	"75676597"	"subst"	"0.000323532"	"01804"	"SIN3A_000017"	"g.75676597A>C"	""	""	""	"SIN3A(NM_001145357.1):c.3195+8T>G (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75384256A>C"	""	"likely benign"	""
"0000680289"	"0"	"90"	"15"	"75684597"	"75684597"	"dup"	"0"	"02325"	"SIN3A_000018"	"g.75684597dup"	""	""	""	"SIN3A(NM_001145358.2):c.2837dupG (p.L947Sfs*8)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000680290"	"0"	"70"	"15"	"75715163"	"75715163"	"del"	"0"	"02330"	"SIN3A_000019"	"g.75715163del"	""	""	""	"SIN3A(NM_015477.3):c.193delT (p.S65Qfs*14)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000691867"	"0"	"70"	"15"	"75673050"	"75673050"	"subst"	"0"	"01804"	"SIN3A_000007"	"g.75673050G>C"	""	""	""	"SIN3A(NM_001145357.1):c.3303C>G (p.(Tyr1101Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000697203"	"0"	"90"	"15"	"75600000"	"76100000"	"del"	"0"	"00006"	"SIN3A_000020"	"g.(?_75600000)_(76100000_?)del"	""	"{PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}"	""	"Del 75.60-76.10"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000697204"	"0"	"90"	"15"	"75600000"	"76100000"	"del"	"0"	"00006"	"SIN3A_000020"	"g.(?_75600000)_(76100000_?)del"	""	"{PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}"	""	"Del 75.60-76.10"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000697205"	"0"	"90"	"15"	"75600000"	"76020000"	"del"	"0"	"00006"	"SIN3A_000020"	"g.(?_75600000)_(76020000_?)del"	""	"{PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}"	""	"Del 75.60-76.02"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000697206"	"0"	"90"	"15"	"75600000"	"75950000"	"del"	"0"	"00006"	"SIN3A_000020"	"g.(?_75600000)_(75950000_?)del"	""	"{PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}"	""	"Del 75.60-75.95"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000697207"	"0"	"90"	"15"	"75704042"	"75704042"	"dup"	"0"	"00006"	"SIN3A_000011"	"g.75704042dup"	""	"{PMID:van Dongen 2020:32783353}, {PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}, {PMID:Coenen-van der Spek 2023:36399132}"	""	""	""	"De novo"	""	""	"0"	"shows specific DNA methylation episignature"	""	"g.75411701dup"	""	"pathogenic (dominant)"	""
"0000697208"	"0"	"90"	"15"	"75702626"	"75702629"	"del"	"0"	"00006"	"SIN3A_000010"	"g.75702626_75702629del"	""	"{PMID:van Dongen 2020:32783353}, {PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}, {PMID:Coenen-van der Spek 2023:36399132}"	""	""	""	"De novo"	""	""	"0"	"shows specific DNA methylation episignature"	""	"g.75410285_75410288del"	""	"pathogenic (dominant)"	""
"0000697209"	"11"	"90"	"15"	"75692478"	"75692478"	"del"	"0"	"00006"	"SIN3A_000021"	"g.75692478del"	""	"{PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.75400137del"	""	"pathogenic (dominant)"	""
"0000697210"	"11"	"90"	"15"	"75692478"	"75692478"	"del"	"0"	"00006"	"SIN3A_000021"	"g.75692478del"	""	"{PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.75400137del"	""	"pathogenic (dominant)"	""
"0000697211"	"0"	"90"	"15"	"75692478"	"75692478"	"del"	"0"	"00006"	"SIN3A_000021"	"g.75692478del"	""	"{PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.75400137del"	""	"pathogenic (dominant)"	""
"0000697212"	"0"	"90"	"15"	"75682064"	"75682065"	"del"	"0"	"00006"	"SIN3A_000008"	"g.75682064_75682065del"	""	"{PMID:van Dongen 2020:32783353}, {PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}, {PMID:Coenen-van der Spek 2023:36399132}"	""	""	""	"De novo"	""	""	"0"	"shows specific DNA methylation episignature"	""	"g.75389723_75389724del"	""	"pathogenic (dominant)"	""
"0000697213"	"21"	"90"	"15"	"75673043"	"75673043"	"subst"	"0"	"00006"	"SIN3A_000006"	"g.75673043G>A"	""	"{PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}, {PMID:Coenen-van der Spek 2023:36399132}"	""	""	""	"Germline"	"yes"	""	"0"	"shows specific DNA methylation episignature"	""	"g.75380702G>A"	""	"pathogenic (dominant)"	""
"0000697214"	"21"	"90"	"15"	"75673043"	"75673043"	"subst"	"0"	"00006"	"SIN3A_000006"	"g.75673043G>A"	""	"{PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}, {PMID:Coenen-van der Spek 2023:36399132}"	""	""	""	"Germline"	"yes"	""	"0"	"shows specific DNA methylation episignature"	""	"g.75380702G>A"	""	"pathogenic (dominant)"	""
"0000697215"	"0"	"90"	"15"	"75673043"	"75673043"	"subst"	"0"	"00006"	"SIN3A_000006"	"g.75673043G>A"	""	"{PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}, {PMID:Coenen-van der Spek 2023:36399132}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	"shows specific DNA methylation episignature"	""	"g.75380702G>A"	""	"pathogenic (dominant)"	""
"0000697216"	"0"	"90"	"15"	"75530000"	"75800000"	"del"	"0"	"00006"	"SIN3A_000020"	"g.(?_75530000)_(75800000_?)del"	""	"{PMID:Mefford 2012:22180641}, {PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}"	""	"Del 75.53-75.80"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000697217"	"0"	"90"	"15"	"75590000"	"76090000"	"del"	"0"	"00006"	"SIN3A_000020"	"g.(?_75590000)_(76090000_?)del"	""	"{PMID:Mefford 2012:22180641}, {PMID:Witteveeen 2016:27399968}, {DOI:Witteveeen 2016:10.1038/ng.3619}"	""	"Del 75.59-76.09"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000698291"	"0"	"90"	"15"	"75693133"	"75693133"	"subst"	"0"	"02327"	"SIN3A_000022"	"g.75693133G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000704148"	"0"	"90"	"15"	"75693199"	"75693199"	"subst"	"0"	"01807"	"SIN3A_000023"	"g.75693199G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000863965"	"0"	"50"	"15"	"75704005"	"75704005"	"subst"	"0.00201949"	"01943"	"SIN3A_000024"	"g.75704005G>A"	""	""	""	"SIN3A(NM_001145358.1):c.836C>T (p.P279L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000892281"	"0"	"50"	"15"	"75668071"	"75668071"	"subst"	"0"	"02325"	"SIN3A_000025"	"g.75668071T>A"	""	""	""	"SIN3A(NM_001145358.2):c.3526A>T (p.M1176L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000892282"	"0"	"50"	"15"	"75682081"	"75682081"	"subst"	"0"	"02329"	"SIN3A_000026"	"g.75682081T>A"	""	""	""	"SIN3A(NM_015477.3):c.2933A>T (p.Q978L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000914372"	"0"	"90"	"15"	"75684624"	"75684625"	"del"	"0"	"02327"	"SIN3A_000027"	"g.75684624_75684625del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000926038"	"0"	"30"	"15"	"75659871"	"75659871"	"subst"	"4.0622E-6"	"01804"	"SIN3A_000028"	"g.75659871C>T"	""	""	""	"MAN2C1(NM_001256494.1):c.332G>A (p.(Arg111His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926039"	"0"	"70"	"15"	"75702539"	"75702540"	"del"	"0"	"02327"	"SIN3A_000029"	"g.75702539_75702540del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000935135"	"0"	"70"	"15"	"75699447"	"75699447"	"del"	"0"	"04575"	"SIN3A_000030"	"g.75699447del"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.75407106del"	""	"pathogenic (dominant)"	"ACMG"
"0000935144"	"0"	"90"	"15"	"75703993"	"75703993"	"dup"	"0"	"00006"	"SIN3A_000031"	"g.75703993dup"	""	"{PMID:Narumi-Kishimoto 2019:30267900}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75411652dup"	"{CV-SCV:000804312}"	"pathogenic (dominant)"	""
"0000935145"	"0"	"90"	"15"	"75684624"	"75684625"	"del"	"0"	"00006"	"SIN3A_000027"	"g.75684624_75684625del"	""	"{PMID:Ferrer 2019:31427378}"	""	"2809_2810delAA"	""	"De novo"	""	""	"0"	""	""	"g.75392283_75392284del"	""	"pathogenic (dominant)"	""
"0000935152"	"0"	"90"	"15"	"74378719"	"78210123"	"del"	"0"	"00006"	"SIN3A_000033"	"g.(?_74378719)_(78210123_?)del"	""	"{PMID:Ercoskun 2021:33142042}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	"hg19 15q24.1q24.3(74,378,719_78,210,123) × 1"	"g.(?_74086378)_(77917782_?)del"	""	"pathogenic (dominant)"	""
"0000935153"	"0"	"90"	"15"	"75693151"	"75693151"	"subst"	"0"	"00006"	"SIN3A_000034"	"g.75693151G>A"	""	"{PMID:Jacobsen 2022:35144002}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.75400810G>A"	""	"pathogenic (dominant)"	""
"0000935154"	"0"	"90"	"15"	"75702621"	"75702621"	"subst"	"0"	"00006"	"SIN3A_000035"	"g.75702621G>A"	""	"{PMID:Penon-Portmann 2022:36158056}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75410280G>A"	""	"pathogenic (dominant)"	""
"0000935155"	"0"	"90"	"15"	"75694257"	"75694257"	"del"	"0"	"00006"	"SIN3A_000052"	"g.75694257del"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75401916del"	""	"pathogenic (dominant)"	""
"0000935156"	"0"	"90"	"15"	"75684670"	"75684670"	"subst"	"0"	"00006"	"SIN3A_000044"	"g.75684670G>A"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75392329G>A"	""	"pathogenic (dominant)"	""
"0000935157"	"0"	"90"	"15"	"75705273"	"75705273"	"del"	"0"	"00006"	"SIN3A_000057"	"g.75705273del"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75412932del"	""	"pathogenic (dominant)"	""
"0000935158"	"0"	"70"	"15"	"75706642"	"75706642"	"subst"	"0"	"00006"	"SIN3A_000059"	"g.75706642G>A"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75414301G>A"	""	"likely pathogenic (dominant)"	""
"0000935159"	"0"	"90"	"15"	"75702249"	"75702250"	"del"	"0"	"00006"	"SIN3A_000053"	"g.75702249_75702250del"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75409908_75409909del"	""	"pathogenic (dominant)"	""
"0000935160"	"0"	"90"	"15"	"75704066"	"75704066"	"dup"	"0"	"00006"	"SIN3A_000056"	"g.75704066dup"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	"775_776insC"	""	"De novo"	""	""	"0"	""	""	"g.75411725dup"	""	"pathogenic (dominant)"	""
"0000935161"	"0"	"90"	"15"	"75704020"	"75704020"	"del"	"0"	"00006"	"SIN3A_000055"	"g.75704020del"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75411679del"	""	"pathogenic (dominant)"	""
"0000935162"	"0"	"90"	"15"	"75687048"	"75687051"	"del"	"0"	"00006"	"SIN3A_000046"	"g.75687048_75687051del"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75394707_75394710del"	""	"pathogenic (dominant)"	""
"0000935163"	"0"	"90"	"15"	"75685095"	"75685095"	"del"	"0"	"00006"	"SIN3A_000045"	"g.75685095del"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75392754del"	""	"pathogenic (dominant)"	""
"0000935164"	"0"	"90"	"15"	"75703952"	"75703952"	"subst"	"0"	"00006"	"SIN3A_000054"	"g.75703952G>A"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75411611G>A"	""	"pathogenic (dominant)"	""
"0000935165"	"0"	"90"	"15"	"75693086"	"75693093"	"delins"	"0"	"00006"	"SIN3A_000050"	"g.75693086_75693093delinsTACACTTGGG"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75400745_75400752delinsTACACTTGGG"	""	"pathogenic (dominant)"	""
"0000935166"	"0"	"90"	"15"	"75673030"	"75673030"	"subst"	"0"	"00006"	"SIN3A_000042"	"g.75673030G>C"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75380689G>C"	""	"pathogenic (dominant)"	""
"0000935167"	"0"	"90"	"15"	"75668107"	"75668107"	"subst"	"0"	"00006"	"SIN3A_000040"	"g.75668107T>A"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75375766T>A"	""	"pathogenic (dominant)"	""
"0000935168"	"21"	"90"	"15"	"75722671"	"75722671"	"subst"	"0"	"00006"	"SIN3A_000060"	"g.75722671G>A"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75430330G>A"	""	"pathogenic (dominant)"	""
"0000935169"	"0"	"90"	"15"	"75673043"	"75673043"	"subst"	"0"	"00006"	"SIN3A_000006"	"g.75673043G>A"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}, {PMID:Coenen-van der Spek 2023:36399132}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	"shows specific DNA methylation episignature"	""	"g.75380702G>A"	""	"pathogenic (dominant)"	""
"0000935170"	"0"	"90"	"15"	"75684624"	"75684625"	"del"	"0"	"00006"	"SIN3A_000027"	"g.75684624_75684625del"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75392283_75392284del"	""	"pathogenic (dominant)"	""
"0000935171"	"0"	"90"	"15"	"75694222"	"75694232"	"del"	"0"	"00006"	"SIN3A_000032"	"g.75694222_75694232del"	""	"{PMID:van Dongen 2020:32783353}, {PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}, {PMID:Coenen-van der Spek 2023:36399132}"	""	""	""	"De novo"	""	""	"0"	"shows specific DNA methylation episignature"	""	"g.75401881_75401891del"	""	"pathogenic (dominant)"	""
"0000935172"	"0"	"90"	"15"	"75673036"	"75673036"	"subst"	"0"	"00006"	"SIN3A_000005"	"g.75673036A>G"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}, {PMID:Coenen-van der Spek 2023:36399132}"	""	""	""	"De novo"	""	""	"0"	"shows specific DNA methylation episignature"	""	"g.75380695A>G"	""	"pathogenic (dominant)"	""
"0000935173"	"0"	"90"	"15"	"75693133"	"75693133"	"subst"	"0"	"00006"	"SIN3A_000022"	"g.75693133G>A"	""	"{PMID:van Dongen 2020:32783353}, {PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}, {PMID:Coenen-van der Spek 2023:36399132}"	""	""	""	"De novo"	""	""	"0"	"shows specific DNA methylation episignature"	""	"g.75400792G>A"	""	"pathogenic (dominant)"	""
"0000935174"	"0"	"90"	"15"	"75673050"	"75673050"	"subst"	"0"	"00006"	"SIN3A_000007"	"g.75673050G>C"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}, {PMID:Coenen-van der Spek 2023:36399132}"	""	""	""	"De novo"	""	""	"0"	"shows specific DNA methylation episignature"	""	"g.75380709G>C"	""	"pathogenic (dominant)"	""
"0000935175"	"0"	"90"	"15"	"75693231"	"75693238"	"del"	"0"	"00006"	"SIN3A_000051"	"g.75693231_75693238del"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75400890_75400897del"	""	"pathogenic (dominant)"	""
"0000935176"	"0"	"90"	"15"	"75687115"	"75687116"	"del"	"0"	"00006"	"SIN3A_000003"	"g.75687115_75687116del"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75394774_75394775del"	""	"pathogenic (dominant)"	""
"0000935177"	"0"	"90"	"15"	"75668158"	"75668162"	"del"	"0"	"00006"	"SIN3A_000041"	"g.75668158_75668162del"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75375817_75375821del"	""	"pathogenic (dominant)"	""
"0000935178"	"0"	"90"	"15"	"75693070"	"75699486"	"dup"	"0"	"00006"	"SIN3A_000049"	"g.(75692498_75693070)_(75699486_75702176)dup"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	"dup ex9-11 1318_1737dup (Val580Lysfs*35)"	""	"De novo"	""	""	"0"	""	""	"g.(75407145_75409835)_(75400157_75400729)dup"	""	"pathogenic (dominant)"	""
"0000935179"	"0"	"90"	"15"	"75692462"	"75692462"	"subst"	"0"	"00006"	"SIN3A_000048"	"g.75692462C>T"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75400121C>T"	""	"pathogenic (dominant)"	""
"0000935180"	"0"	"70"	"15"	"75706556"	"75706556"	"subst"	"0"	"00006"	"SIN3A_000058"	"g.75706556T>C"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75414215T>C"	""	"likely pathogenic (dominant)"	""
"0000935181"	"0"	"90"	"15"	"75684631"	"75684631"	"subst"	"0"	"00006"	"SIN3A_000043"	"g.75684631G>A"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75392290G>A"	""	"pathogenic (dominant)"	""
"0000935182"	"0"	"90"	"15"	"75688805"	"75688805"	"dup"	"0"	"00006"	"SIN3A_000047"	"g.75688805dup"	""	"{PMID:Balasubramanian 2021:33437032}, {DOI:Balasubramanian 2021:10.1038/s41431-020-00769-7}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75396464dup"	""	"pathogenic (dominant)"	""
"0000935183"	"0"	"90"	"15"	"75473227"	"76072030"	"del"	"0"	"00006"	"SIN3A_000033"	"g.(?_75473227)_(76072030_?)del"	""	"{PMID:Schnoll 2023:36758531}"	""	"15q24.2(75473227_76072030)x1"	"598 kb deletion"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.(?_75180886)_(75779689_?)del"	""	"pathogenic"	""
"0000935184"	"0"	"90"	"15"	"75694308"	"75694308"	"subst"	"0"	"00006"	"SIN3A_000036"	"g.75694308G>A"	""	"{PMID:Schnoll 2023:36758531}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.75401967G>A"	""	"likely pathogenic (dominant)"	""
"0000935190"	"0"	"90"	"15"	"75532885"	"75686439"	"del"	"0"	"00006"	"SIN3A_000020"	"g.(?_75532885)_(75686439_?)del"	""	"{PMID:Coenen-van der Spek 2023:36399132}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	"hg19 15q24.2(75532885_75686439)x1"	""	""	"pathogenic (dominant)"	""
"0000935191"	"0"	"90"	"15"	"75505202"	"79390768"	"del"	"0"	"00006"	"SIN3A_000000"	"g.(?_75505202)_(79390768_?)del"	""	"{PMID:Coenen-van der Spek 2023:36399132}"	""	""	""	"De novo"	""	""	"0"	""	"hg19 15q24.2q25.1(75505202_79390768)x1"	""	""	"pathogenic (dominant)"	""
"0000935192"	"0"	"90"	"15"	"75589035"	"76051854"	"del"	"0"	"00006"	"SIN3A_000020"	"g.(?_75589035)_(76051854_?)del"	""	"{PMID:Coenen-van der Spek 2023:36399132}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	"hg19 15q24.2(75589035_76051854)x1"	""	""	"pathogenic (dominant)"	""
"0000935193"	"0"	"90"	"15"	"75693183"	"75693183"	"del"	"0"	"00006"	"SIN3A_000037"	"g.75693183del"	""	"{PMID:Coenen-van der Spek 2023:36399132}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75400842del"	""	"pathogenic (dominant)"	""
"0000935194"	"21"	"90"	"15"	"75687179"	"75687179"	"subst"	"0"	"00006"	"SIN3A_000014"	"g.75687179G>A"	""	"{PMID:Coenen-van der Spek 2023:36399132}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75394838G>A"	""	"likely pathogenic (dominant)"	""
"0000935195"	"0"	"90"	"15"	"75687146"	"75687146"	"subst"	"0"	"00006"	"SIN3A_000038"	"g.75687146G>A"	""	"{PMID:Coenen-van der Spek 2023:36399132}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.75394805G>A"	""	"pathogenic (dominant)"	""
"0000935196"	"21"	"90"	"15"	"75685096"	"75685097"	"del"	"0"	"00006"	"SIN3A_000039"	"g.75685096_75685097del"	""	"{PMID:Coenen-van der Spek 2023:36399132}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75392755_75392756del"	""	"likely pathogenic (dominant)"	""
"0000935197"	"20"	"90"	"15"	"75685096"	"75685097"	"del"	"0"	"00006"	"SIN3A_000039"	"g.75685096_75685097del"	""	"{PMID:Coenen-van der Spek 2023:36399132}"	""	""	"variant likely maternally inherited"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.75392755_75392756del"	""	"likely pathogenic (dominant)"	""
"0000935199"	"20"	"90"	"15"	"75685096"	"75685097"	"del"	"0"	"00006"	"SIN3A_000039"	"g.75685096_75685097del"	""	"{PMID:Coenen-van der Spek 2023:36399132}"	""	""	"variant likely maternally inherited"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.75392755_75392756del"	""	"likely pathogenic (dominant)"	""
"0000950445"	"0"	"90"	"15"	"75673986"	"75673990"	"del"	"0"	"02329"	"SIN3A_000061"	"g.75673986_75673990del"	""	""	""	"SIN3A(NM_001145358.2):c.3254_3258delAAGAG (p.E1085Gfs*5)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000950446"	"0"	"90"	"15"	"75684668"	"75684669"	"del"	"0"	"02325"	"SIN3A_000062"	"g.75684668_75684669del"	""	""	""	"SIN3A(NM_001145358.2):c.2773_2774delGA (p.E925Mfs*14)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000952178"	"0"	"70"	"15"	"75702636"	"75702636"	"subst"	"0"	"03779"	"SIN3A_000063"	"g.75702636T>C"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000967952"	"0"	"50"	"15"	"75692421"	"75692421"	"subst"	"0"	"02327"	"SIN3A_000064"	"g.75692421T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000967953"	"0"	"50"	"15"	"75706601"	"75706601"	"subst"	"0"	"02325"	"SIN3A_000065"	"g.75706601G>C"	""	""	""	"SIN3A(NM_001145358.2):c.418C>G (p.Q140E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981416"	"0"	"50"	"15"	"75656924"	"75656926"	"del"	"0"	"01804"	"MAN2C1_000017"	"g.75656924_75656926del"	""	""	""	"MAN2C1(NM_006715.4):c.506_508del (p.(Lys169del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981417"	"0"	"70"	"15"	"75658862"	"75658862"	"subst"	"0.000236495"	"02325"	"MAN2C1_000018"	"g.75658862C>T"	""	""	""	"MAN2C1(NM_001256494.2):c.422+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000981418"	"0"	"30"	"15"	"75660407"	"75660407"	"subst"	"8.8817E-6"	"01804"	"MAN2C1_000019"	"g.75660407T>A"	""	""	""	"MAN2C1(NM_006715.4):c.227+7A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981419"	"0"	"30"	"15"	"75684574"	"75684574"	"subst"	"7.83118E-5"	"01804"	"SIN3A_000066"	"g.75684574G>A"	""	""	""	"SIN3A(NM_001145358.2):c.2851+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981420"	"0"	"30"	"15"	"75685095"	"75685095"	"subst"	"4.06736E-5"	"01804"	"SIN3A_000067"	"g.75685095G>A"	""	""	""	"SIN3A(NM_001145358.2):c.2339C>T (p.(Ala780Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981421"	"0"	"90"	"15"	"75693114"	"75693114"	"dup"	"0"	"02329"	"SIN3A_000068"	"g.75693114dup"	""	""	""	"SIN3A(NM_015477.3):c.1694dupA (p.Y565*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000981422"	"0"	"30"	"15"	"75699822"	"75699822"	"subst"	"0"	"01804"	"SIN3A_000069"	"g.75699822T>C"	""	""	""	"SIN3A(NM_001145358.2):c.1318-337A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981423"	"0"	"50"	"15"	"75706546"	"75706546"	"subst"	"0"	"02329"	"SIN3A_000070"	"g.75706546C>T"	""	""	""	"SIN3A(NM_015477.3):c.473G>A (p.S158N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001001670"	"0"	"50"	"15"	"75664438"	"75664438"	"subst"	"0"	"01804"	"MAN2C1_000020"	"g.75664438A>C"	""	""	""	"SIN3A(NM_001145358.1):c.3704T>G (p.(Met1235Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001001671"	"0"	"30"	"15"	"75664522"	"75664522"	"subst"	"0"	"01804"	"MAN2C1_000021"	"g.75664522T>C"	""	""	""	"SIN3A(NM_001145358.1):c.3620A>G (p.(His1207Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001001672"	"0"	"30"	"15"	"75668171"	"75668171"	"subst"	"5.28189E-5"	"01804"	"SIN3A_000071"	"g.75668171C>A"	""	""	""	"SIN3A(NM_001145358.1):c.3426G>T (p.(Gln1142His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001001673"	"0"	"50"	"15"	"75676620"	"75676620"	"subst"	"0"	"01804"	"SIN3A_000072"	"g.75676620A>C"	""	""	""	"SIN3A(NM_001145358.1):c.3180T>G (p.(Asp1060Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001001674"	"0"	"30"	"15"	"75676700"	"75676700"	"subst"	"2.03416E-5"	"01804"	"SIN3A_000073"	"g.75676700C>T"	""	""	""	"SIN3A(NM_001145358.1):c.3100G>A (p.(Gly1034Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001001675"	"0"	"30"	"15"	"75676753"	"75676753"	"subst"	"8.2087E-6"	"01804"	"SIN3A_000074"	"g.75676753A>G"	""	""	""	"SIN3A(NM_001145358.1):c.3047T>C (p.(Ile1016Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001001676"	"0"	"50"	"15"	"75684849"	"75684849"	"subst"	"8.12394E-6"	"01804"	"SIN3A_000075"	"g.75684849G>A"	""	""	""	"SIN3A(NM_001145358.1):c.2585C>T (p.(Pro862Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001001677"	"0"	"30"	"15"	"75688728"	"75688728"	"subst"	"1.62442E-5"	"01804"	"SIN3A_000076"	"g.75688728T>C"	""	""	""	"SIN3A(NM_001145358.1):c.1964A>G (p.(Asn655Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001001678"	"0"	"30"	"15"	"75692410"	"75692410"	"subst"	"4.06365E-6"	"01804"	"SIN3A_000077"	"g.75692410T>C"	""	""	""	"SIN3A(NM_001145358.1):c.1825A>G (p.(Ile609Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001001679"	"0"	"30"	"15"	"75699430"	"75699430"	"subst"	"4.07528E-6"	"01804"	"SIN3A_000078"	"g.75699430T>C"	""	""	""	"SIN3A(NM_001145358.1):c.1373A>G (p.(His458Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001040583"	"0"	"70"	"15"	"75658862"	"75658862"	"subst"	"0.000236495"	"02327"	"MAN2C1_000018"	"g.75658862C>T"	""	""	""	"MAN2C1(NM_001256494.2):c.422+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001040584"	"0"	"50"	"15"	"75659923"	"75659923"	"subst"	"0"	"01804"	"MAN2C1_000028"	"g.75659923C>T"	""	""	""	"MAN2C1(NM_006715.4):c.280G>A (p.(Gly94Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040585"	"0"	"30"	"15"	"75664462"	"75664462"	"subst"	"7.31006E-5"	"01804"	"MAN2C1_000029"	"g.75664462G>A"	""	""	""	"SIN3A(NM_001145358.2):c.3680C>T (p.(Ala1227Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001040586"	"0"	"30"	"15"	"75689153"	"75689153"	"subst"	"0"	"01804"	"SIN3A_000079"	"g.75689153G>A"	""	""	""	"SIN3A(NM_001145358.2):c.1855-316C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001040587"	"0"	"90"	"15"	"75694308"	"75694308"	"subst"	"0"	"01804"	"SIN3A_000036"	"g.75694308G>A"	""	""	""	"SIN3A(NM_001145358.2):c.1411C>T (p.(Arg471*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001040588"	"0"	"30"	"15"	"75703452"	"75703452"	"subst"	"0"	"01804"	"SIN3A_000080"	"g.75703452A>G"	""	""	""	"SIN3A(NM_001145358.2):c.1008+381T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001040589"	"0"	"30"	"15"	"75703823"	"75703823"	"subst"	"0"	"01804"	"SIN3A_000081"	"g.75703823C>T"	""	""	""	"SIN3A(NM_001145358.2):c.1008+10G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001040590"	"0"	"50"	"15"	"75704042"	"75704042"	"subst"	"0"	"01804"	"SIN3A_000082"	"g.75704042G>A"	""	""	""	"SIN3A(NM_001145358.2):c.799C>T (p.(Pro267Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001047046"	"0"	"70"	"15"	"75687180"	"75687180"	"subst"	"0"	"01164"	"SIN3A_000083"	"g.75687180C>T"	""	""	""	""	"ACMG: PVS1, PS2_SUP, PM2_SUP; confirmed de novo"	"De novo"	"-"	""	""	""	""	"g.75394839C>T"	""	"pathogenic"	"ACMG"
"0001055207"	"0"	"50"	"15"	"75656882"	"75656882"	"subst"	"6.80984E-5"	"01804"	"MAN2C1_000030"	"g.75656882G>T"	""	""	""	"MAN2C1(NM_006715.4):c.547C>A (p.(Arg183=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001055208"	"0"	"50"	"15"	"75656939"	"75656939"	"subst"	"3.26717E-5"	"01804"	"MAN2C1_000031"	"g.75656939C>T"	""	""	""	"MAN2C1(NM_006715.4):c.490G>A (p.(Ala164Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001055209"	"0"	"30"	"15"	"75660818"	"75660818"	"subst"	"0.00016243"	"01804"	"MAN2C1_000032"	"g.75660818C>T"	""	""	""	"MAN2C1(NM_006715.4):c.101+6G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001055210"	"0"	"30"	"15"	"75664471"	"75664471"	"subst"	"6.90445E-5"	"01804"	"MAN2C1_000033"	"g.75664471C>T"	""	""	""	"SIN3A(NM_001145358.2):c.3671G>A (p.(Arg1224His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001055211"	"0"	"50"	"15"	"75682114"	"75682114"	"subst"	"4.06326E-6"	"01804"	"SIN3A_000084"	"g.75682114C>T"	""	""	""	"SIN3A(NM_001145358.2):c.2900G>A (p.(Arg967Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001055212"	"0"	"50"	"15"	"75687028"	"75687028"	"subst"	"0"	"01804"	"SIN3A_000085"	"g.75687028T>A"	""	""	""	"SIN3A(NM_001145358.2):c.2270A>T (p.(Tyr757Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001055213"	"0"	"90"	"15"	"75687146"	"75687146"	"subst"	"0"	"01804"	"SIN3A_000038"	"g.75687146G>A"	""	""	""	"SIN3A(NM_001145358.2):c.2152C>T (p.(Arg718*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"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 SIN3A
## Count = 123
"{{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}}"
"0000179022"	"00025859"	"90"	"3118"	"0"	"3119"	"0"	"c.3118_3119del"	"r.(?)"	"p.(Gln1040Glufs*15)"	"17"
"0000324217"	"00025859"	"30"	"3133"	"0"	"3133"	"0"	"c.3133C>T"	"r.(?)"	"p.(Leu1045Phe)"	""
"0000341714"	"00025859"	"50"	"3310"	"0"	"3310"	"0"	"c.3310C>T"	"r.(?)"	"p.(Arg1104Ter)"	""
"0000343013"	"00025859"	"70"	"1488"	"0"	"1489"	"0"	"c.1488_1489del"	"r.(?)"	"p.(Arg497CysfsTer2)"	""
"0000347728"	"00025859"	"70"	"3317"	"0"	"3317"	"0"	"c.3317T>C"	"r.(?)"	"p.(Met1106Thr)"	""
"0000351362"	"00025859"	"90"	"3303"	"0"	"3303"	"0"	"c.3303C>G"	"r.(?)"	"p.(Tyr1101Ter)"	""
"0000555504"	"00025859"	"50"	"11188"	"0"	"11188"	"0"	"c.*7366G>A"	"r.(=)"	"p.(=)"	""
"0000555505"	"00025859"	"50"	"3259"	"0"	"3261"	"0"	"c.3259_3261del"	"r.(?)"	"p.(Glu1087del)"	""
"0000555506"	"00025859"	"30"	"2620"	"0"	"2620"	"0"	"c.2620C>G"	"r.(?)"	"p.(Gln874Glu)"	""
"0000555507"	"00025859"	"70"	"2119"	"0"	"2119"	"0"	"c.2119C>T"	"r.(?)"	"p.(Arg707Ter)"	""
"0000555508"	"00025859"	"90"	"2067"	"0"	"2067"	"0"	"c.2067dup"	"r.(?)"	"p.(Ile690HisfsTer8)"	""
"0000555509"	"00025859"	"70"	"533"	"0"	"537"	"0"	"c.533_537del"	"r.(?)"	"p.(Leu178HisfsTer14)"	""
"0000615538"	"00025859"	"30"	"3195"	"8"	"3195"	"8"	"c.3195+8T>G"	"r.(=)"	"p.(=)"	""
"0000680289"	"00025859"	"90"	"2837"	"0"	"2837"	"0"	"c.2837dup"	"r.(?)"	"p.(Leu947SerfsTer8)"	""
"0000680290"	"00025859"	"70"	"193"	"0"	"193"	"0"	"c.193del"	"r.(?)"	"p.(Ser65GlnfsTer14)"	""
"0000691867"	"00025859"	"70"	"3303"	"0"	"3303"	"0"	"c.3303C>G"	"r.(?)"	"p.(Tyr1101Ter)"	""
"0000697203"	"00025859"	"90"	""	"0"	""	"0"	"c.-357_*2600{0}"	"r.0"	"p.0"	"_1_21_"
"0000697204"	"00025859"	"90"	""	"0"	""	"0"	"c.-357_*2600{0}"	"r.0"	"p.0"	"_1_21_"
"0000697205"	"00025859"	"90"	""	"0"	""	"0"	"c.-357_*2600{0}"	"r.0"	"p.0"	"_1_21_"
"0000697206"	"00025859"	"90"	""	"0"	""	"0"	"c.-357_*2600{0}"	"r.0"	"p.0"	"_1_21_"
"0000697207"	"00025859"	"90"	"803"	"0"	"803"	"0"	"c.803dup"	"r.(?)"	"p.(Leu269Thrfs*37)"	""
"0000697208"	"00025859"	"90"	"1010"	"0"	"1013"	"0"	"c.1010_1013del"	"r.(?)"	"p.(Lys337Serfs*16)"	""
"0000697209"	"00025859"	"90"	"1759"	"0"	"1759"	"0"	"c.1759_1759del"	"r.(?)"	"p.(Ser587Profs*12)"	""
"0000697210"	"00025859"	"90"	"1759"	"0"	"1759"	"0"	"c.1759_1759del"	"r.(?)"	"p.(Ser587Profs*12)"	""
"0000697211"	"00025859"	"90"	"1759"	"0"	"1759"	"0"	"c.1759_1759del"	"r.(?)"	"p.(Ser587Profs*12)"	""
"0000697212"	"00025859"	"90"	"2955"	"0"	"2956"	"0"	"c.2955_2956del"	"r.(?)"	"p.(Glu985Aspfs*29)"	""
"0000697213"	"00025859"	"90"	"3310"	"0"	"3310"	"0"	"c.3310C>T"	"r.(?)"	"p.(Arg1104*)"	""
"0000697214"	"00025859"	"90"	"3310"	"0"	"3310"	"0"	"c.3310C>T"	"r.(?)"	"p.(Arg1104*)"	""
"0000697215"	"00025859"	"90"	"3310"	"0"	"3310"	"0"	"c.3310C>T"	"r.(?)"	"p.(Arg1104*)"	""
"0000697216"	"00025859"	"90"	""	"0"	""	"0"	"c.-357_*2600{0}"	"r.0"	"p.0"	"_1_21_"
"0000697217"	"00025859"	"90"	""	"0"	""	"0"	"c.-357_*2600{0}"	"r.0"	"p.0"	"_1_21_"
"0000698291"	"00025859"	"90"	"1675"	"0"	"1675"	"0"	"c.1675C>T"	"r.(?)"	"p.(Arg559*)"	"12"
"0000704148"	"00025859"	"90"	"1609"	"0"	"1609"	"0"	"c.1609C>T"	"r.(?)"	"p.(Arg537Ter)"	""
"0000863965"	"00025859"	"50"	"836"	"0"	"836"	"0"	"c.836C>T"	"r.(?)"	"p.(Pro279Leu)"	""
"0000892281"	"00025859"	"50"	"3526"	"0"	"3526"	"0"	"c.3526A>T"	"r.(?)"	"p.(Met1176Leu)"	""
"0000892282"	"00025859"	"50"	"2933"	"0"	"2933"	"0"	"c.2933A>T"	"r.(?)"	"p.(Gln978Leu)"	""
"0000914372"	"00025859"	"90"	"2809"	"0"	"2810"	"0"	"c.2809_2810del"	"r.(?)"	"p.(Lys937Glufs*2)"	""
"0000926038"	"00025859"	"30"	"8271"	"0"	"8271"	"0"	"c.*4449G>A"	"r.(=)"	"p.(=)"	""
"0000926039"	"00025859"	"70"	"1097"	"0"	"1098"	"0"	"c.1097_1098del"	"r.(?)"	"p.(Phe366*)"	""
"0000935135"	"00025859"	"70"	"1357"	"0"	"1357"	"0"	"c.1357del"	"r.(?)"	"p.(Ala453Glnfs*42)"	"9"
"0000935144"	"00025859"	"90"	"848"	"0"	"848"	"0"	"c.848dup"	"r.(?)"	"p.(His283Glnfs*23)"	""
"0000935145"	"00025859"	"90"	"2809"	"0"	"2810"	"0"	"c.2809_2810del"	"r.(?)"	"p.(Lys937Glufs*2)"	""
"0000935152"	"00025859"	"90"	"0"	"0"	"0"	"0"	"c.-357_*2600{0}"	"r.0"	"p.0"	"_1_21_"
"0000935153"	"00025859"	"90"	"1657"	"0"	"1657"	"0"	"c.1657C>T"	"r.(?)"	"p.(Arg553*)"	""
"0000935154"	"00025859"	"90"	"1015"	"0"	"1015"	"0"	"c.1015C>T"	"r.(?)"	"p.(Gln339*)"	""
"0000935155"	"00025859"	"90"	"1462"	"0"	"1462"	"0"	"c.1462del"	"r.(?)"	"p.(Val488LeufsTer7)"	""
"0000935156"	"00025859"	"90"	"2764"	"0"	"2764"	"0"	"c.2764C>T"	"r.(?)"	"p.(Arg922Ter)"	""
"0000935157"	"00025859"	"90"	"588"	"0"	"588"	"0"	"c.588del"	"r.(?)"	"p.(Asn197MetfsTer4)"	""
"0000935158"	"00025859"	"70"	"377"	"0"	"377"	"0"	"c.377C>T"	"r.(?)"	"p.(Ala126Val)"	""
"0000935159"	"00025859"	"90"	"1245"	"0"	"1246"	"0"	"c.1245_1246del"	"r.(?)"	"p.(Asn415LysfsTer24)"	""
"0000935160"	"00025859"	"90"	"775"	"0"	"775"	"0"	"c.775dup"	"r.(?)"	"p.(His259ProfsTer47)"	""
"0000935161"	"00025859"	"90"	"824"	"0"	"824"	"0"	"c.824del"	"r.(?)"	"p.(Pro275HisfsTer12)"	""
"0000935162"	"00025859"	"90"	"2248"	"0"	"2251"	"0"	"c.2248_2251del"	"r.(?)"	"p.(Leu750MetfsTer43)"	""
"0000935163"	"00025859"	"90"	"2339"	"0"	"2339"	"0"	"c.2339del"	"r.(?)"	"p.(Ala780GlyfsTer14)"	""
"0000935164"	"00025859"	"90"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.(Gln297Ter)"	""
"0000935165"	"00025859"	"90"	"1715"	"0"	"1722"	"0"	"c.1715_1722delinsCCCAAGTGTA"	"r.(?)"	"p.(Gly572AlafsTer11)"	""
"0000935166"	"00025859"	"90"	"3323"	"0"	"3323"	"0"	"c.3323C>G"	"r.(?)"	"p.(Ser1108Ter)"	""
"0000935167"	"00025859"	"90"	"3490"	"0"	"3490"	"0"	"c.3490A>T"	"r.(?)"	"p.(Lys1164Ter)"	""
"0000935168"	"00025859"	"90"	"46"	"0"	"46"	"0"	"c.46C>T"	"r.(?)"	"p.(Gln16Ter)"	""
"0000935169"	"00025859"	"90"	"3310"	"0"	"3310"	"0"	"c.3310C>T"	"r.(?)"	"p.(Arg1104Ter)"	""
"0000935170"	"00025859"	"90"	"2809"	"0"	"2810"	"0"	"c.2809_2810del"	"r.(?)"	"p.(Lys937GlufsTer2)"	""
"0000935171"	"00025859"	"90"	"1489"	"0"	"1499"	"0"	"c.1489_1499del"	"r.(?)"	"p.(Arg497CysfsTer13)"	""
"0000935172"	"00025859"	"90"	"3317"	"0"	"3317"	"0"	"c.3317T>C"	"r.(?)"	"p.(Met1106Thr)"	""
"0000935173"	"00025859"	"90"	"1675"	"0"	"1675"	"0"	"c.1675C>T"	"r.(?)"	"p.(Arg559Ter)"	""
"0000935174"	"00025859"	"90"	"3303"	"0"	"3303"	"0"	"c.3303C>G"	"r.(?)"	"p.(Tyr1101Ter)"	""
"0000935175"	"00025859"	"90"	"1570"	"0"	"1577"	"0"	"c.1570_1577del"	"r.(?)"	"p.(Tyr524ValfsTer26)"	""
"0000935176"	"00025859"	"90"	"2185"	"0"	"2186"	"0"	"c.2185_2186del"	"r.(?)"	"p.(Leu729GlyfsTer8)"	""
"0000935177"	"00025859"	"90"	"3441"	"0"	"3445"	"0"	"c.3441_3445del"	"r.(?)"	"p.(Lys1148ArgfsTer12)"	""
"0000935178"	"00025859"	"90"	"1318"	"-1"	"1737"	"1"	"c.(1317+1_1318-1)_(1737+1_1738-1)dup"	"p.(Val580Lysfs*35)"	"p.(Lys440_Glu579dup)"	""
"0000935179"	"00025859"	"90"	"1773"	"0"	"1773"	"0"	"c.1773G>A"	"r.(?)"	"p.(Trp591Ter)"	""
"0000935180"	"00025859"	"70"	"463"	"0"	"463"	"0"	"c.463A>G"	"r.(?)"	"p.(Lys155Glu)"	""
"0000935181"	"00025859"	"90"	"2803"	"0"	"2803"	"0"	"c.2803C>T"	"r.(?)"	"p.(Arg935Ter)"	""
"0000935182"	"00025859"	"90"	"1888"	"0"	"1888"	"0"	"c.1888dup"	"r.(?)"	"p.(Ile630AsnfsTer17)"	""
"0000935183"	"00025859"	"90"	"0"	"0"	"0"	"0"	"c.-357_*2600{0}"	"r.0"	"p.0"	"_1_21_"
"0000935184"	"00025859"	"90"	"1411"	"0"	"1411"	"0"	"c.1411C>T"	"r.(?)"	"p.(Arg471*)"	""
"0000935190"	"00025859"	"90"	"0"	"0"	"0"	"0"	"c.-357_*2600{0}"	"r.0"	"p.0"	"_1_21_"
"0000935191"	"00025859"	"90"	"0"	"0"	"0"	"0"	"c.-357_*2600{0}"	"r.0"	"p.0"	"_1_21_"
"0000935192"	"00025859"	"90"	"0"	"0"	"0"	"0"	"c.-357_*2600{0}"	"r.0"	"p.0"	"_1_21_"
"0000935193"	"00025859"	"90"	"1626"	"0"	"1626"	"0"	"c.1626del"	"r.(?)"	"p.(Ile542Metfs*5)"	""
"0000935194"	"00025859"	"90"	"2119"	"0"	"2119"	"0"	"c.2119C>T"	"r.(?)"	"p.(Arg707*)"	""
"0000935195"	"00025859"	"90"	"2152"	"0"	"2152"	"0"	"c.2152C>T"	"r.(?)"	"p.(Arg718*)"	""
"0000935196"	"00025859"	"90"	"2337"	"0"	"2338"	"0"	"c.2337_2338del"	"r.(?)"	"p.(Ala780Valfs*2)"	""
"0000935197"	"00025859"	"90"	"2337"	"0"	"2338"	"0"	"c.2337_2338del"	"r.(?)"	"p.(Ala780Valfs*2)"	""
"0000935199"	"00025859"	"90"	"2337"	"0"	"2338"	"0"	"c.2337_2338del"	"r.(?)"	"p.(Ala780Valfs*2)"	""
"0000950445"	"00025859"	"90"	"3254"	"0"	"3258"	"0"	"c.3254_3258del"	"r.(?)"	"p.(Glu1085Glyfs*5)"	""
"0000950446"	"00025859"	"90"	"2773"	"0"	"2774"	"0"	"c.2773_2774del"	"r.(?)"	"p.(Glu925Metfs*14)"	""
"0000952178"	"00025859"	"70"	"1009"	"-9"	"1009"	"-9"	"c.1009-9A>G"	"r.(?)"	"p.(?)"	""
"0000967952"	"00025859"	"50"	"1814"	"0"	"1814"	"0"	"c.1814A>G"	"r.(?)"	"p.(Tyr605Cys)"	""
"0000967953"	"00025859"	"50"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Gln140Glu)"	""
"0000981416"	"00025859"	"50"	"11219"	"0"	"11221"	"0"	"c.*7397_*7399del"	"r.(=)"	"p.(=)"	""
"0000981417"	"00025859"	"70"	"9280"	"0"	"9280"	"0"	"c.*5458G>A"	"r.(=)"	"p.(=)"	""
"0000981418"	"00025859"	"30"	"7735"	"0"	"7735"	"0"	"c.*3913A>T"	"r.(=)"	"p.(=)"	""
"0000981419"	"00025859"	"30"	"2851"	"9"	"2851"	"9"	"c.2851+9C>T"	"r.(=)"	"p.(=)"	""
"0000981420"	"00025859"	"30"	"2339"	"0"	"2339"	"0"	"c.2339C>T"	"r.(?)"	"p.(Ala780Val)"	""
"0000981421"	"00025859"	"90"	"1694"	"0"	"1694"	"0"	"c.1694dup"	"r.(?)"	"p.(Tyr565*)"	""
"0000981422"	"00025859"	"30"	"1318"	"-337"	"1318"	"-337"	"c.1318-337A>G"	"r.(=)"	"p.(=)"	""
"0000981423"	"00025859"	"50"	"473"	"0"	"473"	"0"	"c.473G>A"	"r.(?)"	"p.(Ser158Asn)"	""
"0001001670"	"00025859"	"50"	"3704"	"0"	"3704"	"0"	"c.3704T>G"	"r.(?)"	"p.(Met1235Arg)"	""
"0001001671"	"00025859"	"30"	"3620"	"0"	"3620"	"0"	"c.3620A>G"	"r.(?)"	"p.(His1207Arg)"	""
"0001001672"	"00025859"	"30"	"3426"	"0"	"3426"	"0"	"c.3426G>T"	"r.(?)"	"p.(Gln1142His)"	""
"0001001673"	"00025859"	"50"	"3180"	"0"	"3180"	"0"	"c.3180T>G"	"r.(?)"	"p.(Asp1060Glu)"	""
"0001001674"	"00025859"	"30"	"3100"	"0"	"3100"	"0"	"c.3100G>A"	"r.(?)"	"p.(Gly1034Arg)"	""
"0001001675"	"00025859"	"30"	"3047"	"0"	"3047"	"0"	"c.3047T>C"	"r.(?)"	"p.(Ile1016Thr)"	""
"0001001676"	"00025859"	"50"	"2585"	"0"	"2585"	"0"	"c.2585C>T"	"r.(?)"	"p.(Pro862Leu)"	""
"0001001677"	"00025859"	"30"	"1964"	"0"	"1964"	"0"	"c.1964A>G"	"r.(?)"	"p.(Asn655Ser)"	""
"0001001678"	"00025859"	"30"	"1825"	"0"	"1825"	"0"	"c.1825A>G"	"r.(?)"	"p.(Ile609Val)"	""
"0001001679"	"00025859"	"30"	"1373"	"0"	"1373"	"0"	"c.1373A>G"	"r.(?)"	"p.(His458Arg)"	""
"0001040583"	"00025859"	"70"	"9280"	"0"	"9280"	"0"	"c.*5458G>A"	"r.(=)"	"p.(=)"	""
"0001040584"	"00025859"	"50"	"8219"	"0"	"8219"	"0"	"c.*4397G>A"	"r.(=)"	"p.(=)"	""
"0001040585"	"00025859"	"30"	"3680"	"0"	"3680"	"0"	"c.3680C>T"	"r.(?)"	"p.(Ala1227Val)"	""
"0001040586"	"00025859"	"30"	"1855"	"-316"	"1855"	"-316"	"c.1855-316C>T"	"r.(=)"	"p.(=)"	""
"0001040587"	"00025859"	"90"	"1411"	"0"	"1411"	"0"	"c.1411C>T"	"r.(?)"	"p.(Arg471*)"	""
"0001040588"	"00025859"	"30"	"1008"	"381"	"1008"	"381"	"c.1008+381T>C"	"r.(=)"	"p.(=)"	""
"0001040589"	"00025859"	"30"	"1008"	"10"	"1008"	"10"	"c.1008+10G>A"	"r.(=)"	"p.(=)"	""
"0001040590"	"00025859"	"50"	"799"	"0"	"799"	"0"	"c.799C>T"	"r.(?)"	"p.(Pro267Ser)"	""
"0001047046"	"00025859"	"70"	"2118"	"0"	"2118"	"0"	"c.2118G>A"	"r.(?)"	"p.(Trp706*)"	"14"
"0001055207"	"00025859"	"50"	"11260"	"0"	"11260"	"0"	"c.*7438C>A"	"r.(=)"	"p.(=)"	""
"0001055208"	"00025859"	"50"	"11203"	"0"	"11203"	"0"	"c.*7381G>A"	"r.(=)"	"p.(=)"	""
"0001055209"	"00025859"	"30"	"7324"	"0"	"7324"	"0"	"c.*3502G>A"	"r.(=)"	"p.(=)"	""
"0001055210"	"00025859"	"30"	"3671"	"0"	"3671"	"0"	"c.3671G>A"	"r.(?)"	"p.(Arg1224His)"	""
"0001055211"	"00025859"	"50"	"2900"	"0"	"2900"	"0"	"c.2900G>A"	"r.(?)"	"p.(Arg967Gln)"	""
"0001055212"	"00025859"	"50"	"2270"	"0"	"2270"	"0"	"c.2270A>T"	"r.(?)"	"p.(Tyr757Phe)"	""
"0001055213"	"00025859"	"90"	"2152"	"0"	"2152"	"0"	"c.2152C>T"	"r.(?)"	"p.(Arg718*)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 63
"{{screeningid}}"	"{{variantid}}"
"0000111864"	"0000179022"
"0000315126"	"0000697203"
"0000315127"	"0000697204"
"0000315128"	"0000697205"
"0000315129"	"0000697206"
"0000315130"	"0000697207"
"0000315131"	"0000697208"
"0000315132"	"0000697209"
"0000315133"	"0000697210"
"0000315134"	"0000697211"
"0000315135"	"0000697212"
"0000315136"	"0000697213"
"0000315137"	"0000697214"
"0000315138"	"0000697215"
"0000315139"	"0000697216"
"0000315140"	"0000697217"
"0000321319"	"0000704148"
"0000439419"	"0000935135"
"0000439425"	"0000935144"
"0000439426"	"0000935145"
"0000439429"	"0000935152"
"0000439430"	"0000935153"
"0000439431"	"0000935154"
"0000439432"	"0000935155"
"0000439433"	"0000935156"
"0000439434"	"0000935157"
"0000439435"	"0000935158"
"0000439436"	"0000935159"
"0000439437"	"0000935160"
"0000439438"	"0000935161"
"0000439439"	"0000935162"
"0000439440"	"0000935163"
"0000439441"	"0000935164"
"0000439442"	"0000935165"
"0000439443"	"0000935166"
"0000439444"	"0000935167"
"0000439445"	"0000935168"
"0000439446"	"0000935169"
"0000439447"	"0000935170"
"0000439448"	"0000935171"
"0000439449"	"0000935172"
"0000439450"	"0000935173"
"0000439451"	"0000935174"
"0000439452"	"0000935175"
"0000439453"	"0000935176"
"0000439454"	"0000935177"
"0000439455"	"0000935178"
"0000439456"	"0000935179"
"0000439457"	"0000935180"
"0000439458"	"0000935181"
"0000439459"	"0000935182"
"0000439460"	"0000935183"
"0000439461"	"0000935184"
"0000439463"	"0000935190"
"0000439464"	"0000935191"
"0000439465"	"0000935192"
"0000439467"	"0000935193"
"0000439468"	"0000935194"
"0000439469"	"0000935195"
"0000439470"	"0000935196"
"0000439471"	"0000935197"
"0000439472"	"0000935199"
"0000467736"	"0001047046"