### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CTNNB1)
# 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}}"
"CTNNB1"	"catenin (cadherin-associated protein), beta 1, 88kDa"	"3"	"p21"	"unknown"	"NG_013302.1"	"UD_132085279709"	""	"https://www.LOVD.nl/CTNNB1"	""	"1"	"2514"	"1499"	"116806"	"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"	"http://databases.lovd.nl/shared/refseq/CTNNB1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2016-12-10 14:15:55"	"00006"	"2025-05-08 16:23:03"


## 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}}"
"00024208"	"CTNNB1"	"transcript variant 1"	"002"	"NM_001904.3"	""	"NP_001895.1"	""	""	""	"-268"	"3452"	"2346"	"41240942"	"41281939"	"00006"	"2016-12-10 13:59:49"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 17
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00091"	"CRC"	"cancer, colorectal, susceptibility to (CRC)"	"AD;SMu"	"114500"	""	""	""	"00001"	"2012-12-07 10:49:46"	"00006"	"2021-12-10 21:51:32"
"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"
"00424"	"cancer, ovarian"	"cancer, ovarian"	""	"167000"	""	""	""	"00006"	"2014-06-18 09:01:54"	""	""
"00639"	"cancer, lung"	"cancer, lung (adenocarcinoma)"	""	"211980"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01221"	"cancer, liver"	"cancer, hepatocellular (HCC)"	""	"114550"	"liver"	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01317"	"PILOMATRICOMA"	"pilomatrixoma"	""	"132600"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01429"	"MDB"	"medulloblastoma (MDB)"	"AD;AR;SMu"	"155255"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2022-10-31 14:18:45"
"01544"	"RB1"	"retinoblastoma, type 1"	"AD;SMu"	"180200"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2025-01-14 18:01:23"
"03823"	"NEDSDV;MRD19"	"eurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV, MRD19)"	"AD"	"615075"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-08-18 11:47:42"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04240"	"EVR;FEVR"	"vitreoretinopathy, exudative (EVR; familial FVER))"	""	""	""	""	""	"00006"	"2015-04-10 12:38:11"	"00006"	"2019-07-31 13:55:30"
"05232"	"APA"	"adenoma, adrenal aldosterone-producing (APA)"	""	""	""	""	""	"00006"	"2017-03-05 15:11:47"	"00006"	"2017-03-05 15:13:07"
"05521"	"seizures"	"seizures"	""	""	""	""	""	"00006"	"2018-11-18 17:02:13"	""	""
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"
"05636"	"EVR7"	"vitreoretinopathy exudative, type 7 (EVR-7)"	"AD"	"617572"	""	""	"autosomal dominant"	"02135"	"2019-07-29 16:32:00"	"00006"	"2021-12-10 21:51:32"
"05976"	"STHAG"	"agenesis, tooth, selective (STHAG)"	""	""	""	""	""	"00006"	"2021-10-18 13:22:32"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 10
"{{geneid}}"	"{{diseaseid}}"
"CTNNB1"	"00091"
"CTNNB1"	"00139"
"CTNNB1"	"00424"
"CTNNB1"	"01221"
"CTNNB1"	"01317"
"CTNNB1"	"01429"
"CTNNB1"	"03823"
"CTNNB1"	"04240"
"CTNNB1"	"05232"
"CTNNB1"	"05636"


## Individuals ## Do not remove or alter this header ##
## Count = 100
"{{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}}"
"00050427"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050446"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050452"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050466"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050705"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00080917"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected non-carrier parents"	""	""	""	""	"0"	""	""	""	""
"00081006"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected non-carrier parents"	""	""	""	""	"0"	""	""	""	""
"00090556"	""	""	""	"1"	""	"01816"	""	"gene panel study on colon cancer cases"	""	""	"United States"	""	"0"	"data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database"	""	""	""
"00090557"	""	""	""	"1"	""	"01816"	""	"gene panel study on colon cancer cases"	""	""	"United States"	""	"0"	"data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database"	""	""	""
"00090558"	""	""	""	"1"	""	"01816"	""	"gene panel study on colon cancer cases"	""	""	"United States"	""	"0"	"data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database"	""	""	""
"00090559"	""	""	""	"1"	""	"01816"	""	"gene panel study on colon cancer cases"	""	""	"United States"	""	"0"	"data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database"	""	""	""
"00090560"	""	""	""	"1"	""	"01816"	""	"gene panel study on colon cancer cases"	""	""	"United States"	""	"0"	"data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database"	""	""	""
"00090561"	""	""	""	"1"	""	"01816"	""	"gene panel study on colon cancer cases"	""	""	"United States"	""	"0"	"data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database"	""	""	""
"00090562"	""	""	""	"1"	""	"01816"	""	"gene panel study on colon cancer cases"	""	""	"United States"	""	"0"	"data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database"	""	""	""
"00090563"	""	""	""	"1"	""	"01816"	""	"gene panel study on colon cancer cases"	""	""	"United States"	""	"0"	"data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database"	""	""	""
"00183067"	""	""	""	"1"	""	"00006"	"{PMID:de Ligt 2012:23033978}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"23033978-Trio70"
"00207734"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00207889"	""	""	""	"1"	""	"00006"	"{PMID:Lionel 2018:28771251}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"28771251-Pat43"
"00219180"	""	""	""	"1"	""	"01807"	""	""	"?"	""	""	""	"0"	""	""	""	""
"00248854"	""	""	""	"3"	""	"02135"	"{PMID:Panagiotou 2017:28575650}"	"3 affected individuals spanning 2 generations"	"F"	"-"	"United States"	""	"0"	""	""	"Hawaiian of Japanese origin"	"F258"
"00248855"	""	""	""	"1"	""	"02135"	"{PMID:Panagiotou 2017:28575650}"	"Autosomal dominant 3 generation family with reduced penetrance"	"M"	"-"	"Japan"	""	"0"	""	""	""	"F410"
"00248856"	""	""	""	"1"	""	"02135"	"{PMID:Dixon 2016:26967979}"	""	"M"	"-"	"United States"	""	"0"	""	""	""	""
"00249413"	""	""	""	"1"	""	"02135"	"{PMID:Sun 2019:30640974}"	""	"F"	"-"	"China"	""	"0"	""	""	""	"QT2648"
"00249414"	""	""	""	"1"	""	"03382"	"{PMID:Sun 2019:30640974}"	""	"F"	"no"	"China"	""	"0"	""	""	""	"QT1615"
"00249415"	""	""	""	"1"	""	"03383"	"{PMID:Sun 2019:30640974}"	""	"M"	""	"China"	""	"0"	""	""	""	"QT409"
"00249416"	""	""	""	"1"	""	"03382"	"{PMID:Sun 2019:30640974}"	""	"M"	"no"	"China"	""	"0"	""	""	""	"QT1504"
"00262088"	""	""	""	"2"	""	"03382"	"{PMID:Wang 2019:30929091}"	"2-generation family, affected mother/daughter"	"F"	"?"	"China"	"27y"	"0"	""	""	""	"Patient 1 (daughter)"
"00262094"	""	""	"00262088"	"1"	""	"03382"	"{PMID:Wang 2019:30929091}"	"2-generation family, affected mother/daughter"	"F"	"?"	"China"	"49y"	"0"	""	""	""	"Patient 2 (mother)"
"00262095"	""	""	""	"1"	""	"03382"	"{PMID:Karolak 2019:31309540}"	""	"M"	"no"	"United States"	"00y04m"	"0"	""	""	"white"	"Patient 1"
"00265257"	""	""	""	"1"	""	"00006"	"{PMID:Sun 2019:30640974}"	""	"M"	"no"	"China"	""	"0"	""	""	""	"QT409"
"00265293"	""	""	""	"1"	""	"03382"	"{PMID:Kharbanda 2017:  27915094 }"	""	"M"	""	"United Kingdom (Great Britain)"	"06y02m"	"0"	"no"	""	"White British"	"Patient 1 Kharbanda 2017"
"00265294"	""	""	""	"1"	""	"03382"	"{PMID:Kharbanda 2017:  27915094 }"	""	"M"	"?"	"United Kingdom (Great Britain)"	"03y03m"	"0"	"no"	""	"Scottish white"	"Patient 2 Kharbanda 2017"
"00265295"	""	""	""	"1"	""	"03382"	"{PMID: Kharbanda 2017: 27915094 }"	""	"F"	"?"	"United Kingdom (Great Britain)"	"09y02m"	"0"	"no"	""	"Midelle Eastern Iran/Lebanon"	"Patient 3 Kharbanda 2017"
"00265296"	""	""	""	"1"	""	"03382"	"{PMID: Kharbanda 2017: 27915094 }"	""	"M"	"?"	"United Kingdom (Great Britain)"	"14y"	"0"	"no"	""	"White British"	"Patient 4 Kharbanda 2017"
"00265297"	""	""	""	"1"	""	"03382"	"{PMID: Kharbanda 2017: 27915094 }"	""	"F"	""	"United Kingdom (Great Britain)"	"11y"	"0"	""	""	"Egyptian"	"Patient 5 Kharbanda 2017"
"00265298"	""	""	""	"1"	""	"03382"	"{PMID: Kharbanda 2017: 27915094 }"	""	"F"	"no"	"United Kingdom (Great Britain)"	"27y"	"0"	"no"	""	"White British"	"Patient 6 Kharbanda 2017"
"00265299"	""	""	""	"1"	""	"03382"	"{PMID: Kharbanda 2017: 27915094 }"	""	"F"	"no"	"United Kingdom (Great Britain)"	"13y"	"0"	""	""	"white"	"Patient 7 Kharbanda 2017"
"00265300"	""	""	""	"1"	""	"03382"	"{PMID: Kharbanda 2017: 27915094 }"	""	"F"	""	"United Kingdom (Great Britain)"	"07y"	"0"	"no"	""	"white"	"Patient 8 Kharbanda 2017"
"00265302"	""	""	""	"1"	""	"03382"	"{PMID: Kharbanda 2017: 27915094 }"	""	"F"	"no"	"United Kingdom (Great Britain)"	"07y"	"0"	"no"	""	"white"	"Patient 9 Kharbanda 2017"
"00265303"	""	""	""	"1"	""	"03382"	"{PMID: Kharbanda 2017: 27915094 }"	""	"F"	"?"	"(United Kingdom (Great Britain))"	"09y"	"0"	"no"	""	"Morocco;Jewish-Shepardic"	"Patient 10 Kharbanda 2017"
"00265304"	""	""	""	"1"	""	"03382"	"{PMID:Li 2017:28514307}"	""	"M"	"no"	"China"	"01y03m"	"0"	"yes"	""	""	"Patient 1 Li 2017"
"00265305"	""	""	""	"1"	""	"03382"	"{PMID:Dixon 2016:26967979}"	""	"M"	"no"	"China"	"01y10m"	"0"	"yes"	""	""	"Patient 1 Dixon 2016"
"00265309"	""	""	""	"1"	""	"03382"	"{PMID:Tucci 2014:24614104}"	""	"F"	"?"	""	"14y"	"0"	"no"	""	""	"Patient4"
"00265314"	""	""	""	"1"	""	"03382"	"{PMID:Kuechler 2015:25326669}"	""	"M"	"no"	"Germany"	"08y06m"	"0"	"yes"	""	""	"Patient 1 Kuechler 2015"
"00265327"	""	""	""	"1"	""	"03382"	"{PMID:Kuechler 2015:25326669}"	""	"F"	"no"	"Bangladesh"	"05y"	"0"	"yes"	""	""	"Patient 2 Kuechler 2015"
"00265438"	""	""	""	"1"	""	"00596"	"{PMID:Fu 2018:30268445}"	"patient included among primary lung adenocarcinomas cases; asymptomatic; history of smoking; no co-existing disease; physical examination, respiratory function and blood examinations all normal"	"M"	"?"	"China"	""	"0"	""	""	""	""
"00269339"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00273459"	""	""	""	"1"	""	"03382"	"{PMID:Tucci 2014:24614104}"	""	"F"	"?"	"Netherlands"	"29y"	"0"	""	""	"white"	"Patient2"
"00273460"	""	""	""	"1"	""	"03382"	"{PMID:Tucci 2014:24614104}"	""	"M"	"?"	"Netherlands"	"04y"	"0"	""	""	"white"	"Patient1"
"00273461"	""	""	""	"1"	""	"03382"	"{PMID:Tucci 2014:24614104}"	""	"F"	""	""	""	"0"	""	""	""	"Patient3"
"00273462"	""	""	""	"1"	""	"03382"	"{PMID:Panagiotoy 2017:28575650 }"	"2-generation family, affected son with unaffected parents"	"M"	"no"	"China"	"00y01m"	"0"	""	""	""	"Patient 1 Panagiotou 2017"
"00273464"	""	""	""	"1"	""	"03382"	"{PMID:Panagiotou 2017:28575650 }"	"3-generation family, affectted (symptomatic) paternal grandmother/father/2 sons- one son carries the gene but is asymptomatic"	"M"	""	"Japan"	"11y"	"0"	""	""	""	"Patient 2 Panagiotou 2017"
"00274132"	""	""	""	"3"	""	"03382"	"{PMID: Panagiotou 2017: 28575650 }"	"2-generation family, affected father/son/daughter"	"F"	"no"	"Japan;US Minor Outlying Islands"	"?"	"0"	""	""	"Hawaian with Japanese origin"	"Patient 3 Panagiotou 2017 (daughter)"
"00274133"	""	""	"00274132"	"1"	""	"03382"	"{PMID:Panagiotou 2017:28575650 }"	"2-generation family, father/son/daughter affected"	"M"	"?"	"Japan;US Minor Outlying Islands"	"50y?"	"0"	""	""	"Hawaian with Japanese origin"	"Patient 4 Panagiotou 2017 (father)"
"00274134"	""	""	"00274132"	"1"	""	"03382"	"{PMID:Panagiotou 2017:28575650 }"	"2-generation family, father/son/daughter affected"	"M"	"no"	"Japan;US Minor Outlying Islands"	"10y"	"0"	""	""	"Hawaian with Japanese origin"	"Patient 5 Panagiotou 2017 (son)"
"00274135"	""	""	""	"1"	""	"03382"	"{PMID:Kuechler 2015: 25326669 }"	""	"F"	"no"	"Turkey"	"02y05m"	"0"	""	""	""	"Patient 3 Kuechler 2015"
"00274136"	""	""	""	"1"	""	"03382"	"{PMID:Kuechler 2015: 25326669 }"	""	"F"	"no"	"Viet Nam"	"15y04m"	"0"	""	""	""	"Patient 4 Kuechler 2015"
"00274137"	""	""	""	"1"	""	"03382"	"{PMID:Kuechler 2015: 25326669 }"	""	"M"	"no"	"Germany"	"05y07m"	"0"	""	""	"white"	"Patient 5 Kuechler 2015"
"00274138"	""	""	""	"2"	""	"03382"	"{PMID:Kuechler 2015: 25326669 }"	""	"F"	"no"	"Ireland;Italy;Puerto Rico"	"13y02m"	"0"	""	""	"Mixed European (Italian/Irish) and Puerto Rican ancestry"	"Patient 6 Kuechler 2015"
"00274206"	""	""	"00274138"	"1"	""	"03382"	"{PMID:Kuechler 2015: 25326669 }"	""	"M"	"no"	"Ireland;Italy;Puerto Rico"	"10y11m"	"0"	""	""	"Mixed European (Italian/Irish) and Puerto Rican ancestry"	"Patient 7 Kuechler 2015"
"00274207"	""	""	""	"1"	""	"03382"	"{PMID:Kuechler 2015: 25326669 }"	""	"M"	"no"	"Italy;Philippines"	"01y03m"	"0"	""	""	"Italian and Filipino decent"	"Patient 8 Kuechler 2015"
"00274208"	""	""	""	"1"	""	"03382"	"{PMID:Kuechler 2015: 25326669 }"	""	"M"	"no"	""	"02y"	"0"	""	""	""	"Patient 9 Kuechler 2015"
"00274209"	""	""	""	"1"	""	"03382"	"{PMID:Kuechler 2015: 25326669 }"	""	"F"	"no"	""	"04y"	"0"	""	""	""	"Patient 10 Kuechler 2015"
"00274210"	""	""	""	"1"	""	"03382"	"{PMID:Kuechler 2015: 25326669 }"	""	"M"	"no"	""	"08y"	"0"	""	""	""	"Patient 11 Kuechler 2015"
"00274211"	""	""	""	"1"	""	"03382"	"{PMID:Kuechler 2015:25326669}, {PMID:Monroe 2016:26845106}"	""	"F"	"no"	"Netherlands"	"13y"	"0"	""	""	""	"Pat12;Pat2"
"00274212"	""	""	""	"1"	""	"03382"	"{PMID:Kuechler 2015: 25326669 }"	""	"M"	"no"	""	"06y"	"0"	""	""	""	"Patient 13 Kuechler 2015"
"00274213"	""	""	""	"1"	""	"03382"	"{PMID:Kuechler 2015: 25326669 }"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	"Patient 14 Kuechler 2015"
"00274214"	""	""	""	"1"	""	"03382"	"{PMID:Kuechler 2015: 25326669 }"	""	"F"	"no"	""	"03y03m"	"0"	""	""	""	"Patient 15 Kuechler 2015"
"00302887"	""	""	""	"1"	""	"00006"	"{PMID:Percy 2018:29682453}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"United States"	""	"0"	""	""	""	"PatA"
"00302982"	""	""	""	"1"	""	"00006"	"{PMID:Helbig 2016:26795593}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat27"
"00307257"	""	""	""	"1"	""	"03753"	"{PMID:Mendonca 2021:34478740}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"Patient 62"
"00307258"	""	""	""	"1"	""	"03753"	"{PMID:Mendonca 2021:34478740}"	"patient with retinoblastoma"	"M"	""	"Brazil"	""	"0"	""	""	""	"Patient 64"
"00307729"	""	""	""	"1"	""	"00006"	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	"M"	""	""	""	"0"	""	""	""	"UK10K_FINDWGA5410768"
"00307730"	""	""	""	"1"	""	"00006"	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	"M"	""	""	""	"0"	""	""	""	"UK10K_FINDWGA5411300"
"00373715"	""	""	""	"1"	""	"01864"	""	""	"F"	"no"	"China"	""	"0"	""	""	"Chinese"	"iw095"
"00374706"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-2264"
"00380224"	""	""	""	"1"	""	"01164"	""	""	"F"	"no"	"Germany"	""	"0"	""	""	""	"182575"
"00385461"	""	""	""	"1"	""	"00000"	"{PMID:Lenassi 2020:31848469}"	"retrospective analysis"	"F"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"14013821"
"00385912"	""	""	""	"1"	""	"00006"	"{PMID:Prasad 2016:26502894}"	""	"F"	""	""	""	"0"	""	""	""	"V2.87"
"00416623"	""	""	""	"1"	""	"00000"	"{PMID:Dixon 2016:26967979}"	""	"M"	""	""	""	"0"	""	""	""	"?"
"00421411"	""	""	""	"1"	""	"00000"	"{PMID:Coussa 2020:32039639}"	""	""	""	""	""	"0"	""	""	""	"?"
"00421511"	""	""	""	"1"	""	"00000"	"{PMID:Ke 2020:33425807}"	"?"	"F"	""	""	""	"0"	""	""	""	"?"
"00421526"	""	""	""	"1"	""	"00000"	"{PMID:Rossetti 2020:33350591}"	""	"M"	""	""	""	"0"	""	""	""	"Patient 1"
"00421527"	""	""	""	"1"	""	"00000"	"{PMID:Rossetti 2020:33350591}"	""	"M"	""	""	""	"0"	""	""	""	"Patient 2"
"00421528"	""	""	""	"1"	""	"00000"	"{PMID:Rossetti 2020:33350591}"	""	"F"	""	""	""	"0"	""	""	""	"Patient 3"
"00421529"	""	""	""	"1"	""	"00000"	"{PMID:Rossetti 2020:33350591}"	""	"F"	""	""	""	"0"	""	""	""	"Patient 4"
"00421530"	""	""	""	"1"	""	"00000"	"{PMID:Rossetti 2020:33350591}"	""	"M"	""	""	""	"0"	""	""	""	"Patient 5"
"00421531"	""	""	""	"1"	""	"00000"	"{PMID:Rossetti 2020:33350591}"	""	"M"	""	""	""	"0"	""	""	""	"Patient 6"
"00421532"	""	""	""	"1"	""	"00000"	"{PMID:Rossetti 2020:33350591}"	""	"M"	""	""	""	"0"	""	""	""	"Patient 7"
"00428036"	""	""	""	"1"	""	"00006"	"{PMID:Bournazos 2022:34906502}"	"family, 1 affected"	""	""	"Australia"	""	"0"	""	""	""	"A240"
"00431190"	""	""	""	"1"	""	"00006"	"{PMID:He 2023:35361685}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	"China"	""	"0"	""	""	""	"Fam1"
"00431191"	""	""	""	"1"	""	"00006"	"{PMID:He 2023:35361685}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	"China"	""	"0"	""	""	""	"Fam2"
"00431192"	""	""	""	"1"	""	"00006"	"{PMID:He 2023:35361685}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"China"	""	"0"	""	""	""	"Fam3"
"00433378"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"252225"
"00434046"	""	""	""	"1"	""	"03544"	""	""	"?"	""	""	""	""	""	""	""	""
"00435201"	""	""	""	"1"	""	"01164"	""	""	"F"	"no"	"? (unknown)"	""	"0"	""	""	""	"227991"
"00436305"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"269176"
"00440347"	""	""	""	"1"	""	"00006"	"{PMID:Thevenon 2016:26757139}, {PMID:Nambot 2018:29095811}"	""	"F"	""	"France"	""	"0"	""	""	""	"Pat12;PED1315.1"
"00449823"	""	""	""	"1"	""	"03544"	""	""	"F"	"-"	"- (not applicable)"	""	""	""	""	""	""
"00465218"	""	""	""	"1"	""	"03544"	""	""	"M"	"-"	"- (not applicable)"	""	""	""	""	"white"	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 99
"{{individualid}}"	"{{diseaseid}}"
"00050427"	"00198"
"00050446"	"00198"
"00050452"	"00198"
"00050466"	"00198"
"00050705"	"00198"
"00080917"	"03823"
"00081006"	"03823"
"00090556"	"00091"
"00090557"	"00091"
"00090558"	"00091"
"00090559"	"00091"
"00090560"	"00091"
"00090561"	"00091"
"00090562"	"00091"
"00090563"	"00091"
"00183067"	"00139"
"00207889"	"00198"
"00219180"	"00198"
"00248854"	"05636"
"00248855"	"05636"
"00248856"	"05636"
"00249413"	"05636"
"00249414"	"05636"
"00249415"	"05636"
"00249416"	"05636"
"00262088"	"04240"
"00262094"	"04240"
"00262095"	"05636"
"00265257"	"04240"
"00265293"	"00139"
"00265294"	"00139"
"00265295"	"00139"
"00265296"	"00139"
"00265297"	"00139"
"00265298"	"00139"
"00265299"	"00139"
"00265300"	"00139"
"00265302"	"00139"
"00265303"	"00139"
"00265304"	"04240"
"00265305"	"04240"
"00265309"	"00139"
"00265314"	"00139"
"00265327"	"00139"
"00265438"	"00639"
"00269339"	"00198"
"00273459"	"00139"
"00273460"	"00139"
"00273461"	"00139"
"00273462"	"04240"
"00273464"	"04240"
"00274132"	"04240"
"00274133"	"04240"
"00274134"	"04240"
"00274135"	"00139"
"00274136"	"00139"
"00274137"	"00139"
"00274138"	"00139"
"00274206"	"00139"
"00274207"	"00139"
"00274208"	"00139"
"00274209"	"00139"
"00274210"	"00139"
"00274211"	"00139"
"00274212"	"00139"
"00274213"	"00139"
"00274214"	"00139"
"00302887"	"00198"
"00302982"	"05521"
"00307257"	"01544"
"00307258"	"01544"
"00307729"	"00139"
"00307730"	"00139"
"00373715"	"00198"
"00374706"	"00198"
"00380224"	"03823"
"00385461"	"04214"
"00385912"	"05976"
"00416623"	"04214"
"00421411"	"04214"
"00421511"	"04214"
"00421526"	"04214"
"00421527"	"04214"
"00421528"	"04214"
"00421529"	"04214"
"00421530"	"04214"
"00421531"	"04214"
"00421532"	"04214"
"00428036"	"00198"
"00431190"	"04240"
"00431191"	"04240"
"00431192"	"04240"
"00433378"	"03823"
"00434046"	"00139"
"00435201"	"03823"
"00436305"	"03823"
"00440347"	"05611"
"00449823"	"00139"
"00465218"	"05611"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00091, 00139, 00198, 00424, 00639, 01221, 01317, 01429, 01544, 03823, 04214, 04240, 05232, 05521, 05611, 05636, 05976
## Count = 90
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Cysts}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Cancer/Sub_type}}"	"{{Phenotype/Eye/Retina}}"	"{{Phenotype/Neoplasm}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000037039"	"00198"	"00050427"	"00006"	"Isolated (sporadic)"	""	"microcephaly, motor delay, delayed speech and language development, short stature"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000037058"	"00198"	"00050446"	"00006"	"Isolated (sporadic)"	""	"microcephaly, specific learning disability, full cheeks, ataxia, hypermetropia, open mouth, aggressive behavior"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000037064"	"00198"	"00050452"	"00006"	"Isolated (sporadic)"	""	"microcephaly, global developmental delay, low-set ears, limb dystonia, abnormality of refraction, blue sclerae, sandal gap, delayed speech and language development"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000037078"	"00198"	"00050466"	"00006"	"Isolated (sporadic)"	""	"frontal upsweep of hair, high-arched palate, childhood-onset truncal obesity, gynecomastia, brachydactyly syndrome, generalized hypopigmentation, achilles tendon contracture"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000037317"	"00198"	"00050705"	"00006"	"Isolated (sporadic)"	""	"global developmental delay, delayed speech and language development, abnormal hair pattern, abnormality of earlobe, muscular hypotonia of the trunk"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000060486"	"03823"	"00080917"	"01758"	"Isolated (sporadic)"	""	"Mental retardation, autosomal dominant 19  (OMIM:615075)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000060575"	"03823"	"00081006"	"01758"	"Isolated (sporadic)"	""	"Mental retardation, autosomal dominant 19 (OMIM:615075)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000143820"	"00139"	"00183067"	"00006"	"Unknown"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"intellectual disability (ID)"	""
"0000155524"	"00198"	"00207734"	"01164"	"Unknown"	""	"HP:0000637 (Long palpebral fissure); HP:0001212 (Prominent fingertip pads); HP:0000252 (Microcephaly); HP:0001263 (Global developmental delay)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000155673"	"00198"	"00207889"	"00006"	"Familial, autosomal dominant"	""	"Global developmental delay; spasticity; microcephaly"	""	""	""	""	""	""	""	""	""	""	""	""	""	"MRD-19"	""	""
"0000167728"	"00198"	"00219180"	"01807"	"Unknown"	""	"HP:0002652 (Skeletal dysplasia)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000187821"	"05636"	"00248854"	"02135"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"FEVR"	"FEVR"	""
"0000187822"	"05636"	"00248855"	"02135"	"Familial, autosomal dominant"	""	"Presented at 11 years of age with very low vision. Fundus examination showed retinal avascularity, exudation, retinal holes, and bilateral retinal detachment, for which he underwent buckle surgery in both eyes"	""	""	""	""	""	""	""	""	""	""	""	""	""	"FEVR"	"FEVR"	""
"0000187823"	"05636"	"00248856"	"02135"	"Isolated (sporadic)"	""	"familial exudative vitreoretinopathy (HP:0030490), intellectual disability (HP:0001249), autism spectrum disorder (HP:0000729)"	""	""	""	""	""	""	""	""	""	""	""	""	""	"FEVR, syndromic"	""	""
"0000188378"	"05636"	"00249413"	"02135"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Syndromic FEVR"	"Norrie-Like retinopathy"	""
"0000188381"	"05636"	"00249415"	"03383"	"Isolated (sporadic)"	"00y06m"	"Syndromic Familial Exudative Vitreorepinopathy"	"00y06m"	""	""	""	""	""	""	""	""	""	""	""	""	"EVR-7"	"Norrie-like retinopathy"	""
"0000188382"	"05636"	"00249414"	"03382"	"Isolated (sporadic)"	"00y08m"	""	"00y08m"	""	"00y08m"	""	""	""	""	""	""	""	""	""	""	"Familial Exudative Vitreoretinopathy"	"Norrie-like retinopathy"	""
"0000188383"	"05636"	"00249416"	"03382"	"Isolated (sporadic)"	"00y06m"	""	"00y03m"	""	""	""	""	""	""	""	""	""	""	""	""	"Familial Exudative Vitreoretinopathy"	"Norrie-like retinopathy"	""
"0000200571"	"04240"	"00262088"	"03382"	"Familial"	"27y"	"HP:0001249 Intellectual Disability\r\nHP:0000565 Esotropia\r\nHP:0001270 Motor Delay \r\nHP:0000541 Retinal Detachment"	"00y?"	""	"27y"	""	""	""	""	""	""	""	""	""	""	"Familial Exudative Vitreoretinopathy"	"Norrie-like retinopathy"	""
"0000200576"	"04240"	"00262094"	"03382"	"Unknown"	"49y"	"HP:0001249 Intellectual Disability\r\nHP:0000565 Esotropia\r\nHP:0001270 Motor Delay"	"?"	""	"49y"	""	""	""	""	""	""	""	""	""	""	"Familial Exudative Vitreoretinopathy"	"Norrie-like retinopathy"	""
"0000200577"	"05636"	"00262095"	"03382"	"Isolated (sporadic)"	"00y04m"	"HP:0000252 Microcephaly\r\nHP:0001249 Intellectual Disability\r\nHP:0001257 Spasticity\r\nHP:0002878 Respiratory Failure"	"00y"	""	"00y04m"	""	""	""	""	""	""	""	""	""	""	"Familial Exudative Vitreoretinopathy"	"Norrie-like retinopathy"	""
"0000203076"	"04240"	"00265257"	"00006"	"Unknown"	"00y06m"	"corneal opacity, occlusion of pupil, temporal dragging of optic disc, retinal detachment"	"00y06m"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Norrie-like retinopathy"	""
"0000203090"	"04240"	"00265293"	"03382"	"Isolated (sporadic)"	"03y"	"Intellectual disability HP:0001249\r\nSingle supernumerary upper incisor\r\nbilateral orchidopexies"	""	""	"06y02m"	""	""	""	""	""	""	""	""	""	""	"Intellectual disability"	"Intellectual disability"	""
"0000203091"	"00139"	"00265294"	"03382"	"Isolated (sporadic)"	"00y03m"	"birth 40w, 3.05 kg; neurodevelopmental delay (HP:0012758)"	"00y03m"	"40 weeks,3.05 kg"	"03y03m"	""	""	""	""	""	""	""	""	""	""	"Intellectual disability"	"Intellectual disability"	""
"0000203092"	"00139"	"00265295"	"03382"	"Isolated (sporadic)"	"00y"	"Fair skin and hair; birth 38w, 2.5kg; neurodevelopmental delay (HP:0012758); speech delay (HP:0000750)"	"00y"	"38 weeks, 2.5kg"	"00y05m"	""	""	""	""	""	""	""	""	""	""	"Intellectual disability"	"Intellectual disability"	""
"0000203093"	"00139"	"00265296"	"03382"	"Isolated (sporadic)"	""	"fiar hair and skin; birth 41w, 3.4 kg; motor delay (HP:0001270); severe speech delay (HP:0000750)"	"00y"	"41 weeks, 3.4 kg"	"14y"	""	""	""	""	""	""	""	""	""	""	"Intellectual disability"	"Intellectual disability"	""
"0000203094"	"00139"	"00265297"	"03382"	"Isolated (sporadic)"	"11y"	"birth 40w, 2.7 kg; intellectual disability (HP:0001249); motor delay (HP:0001270); moderate-severe speech delay (HP:0000750)"	"01y"	"40 weeks, 2.7 kg"	"11y"	""	""	""	""	""	""	""	""	""	""	"Intellectual disability"	"Intellectual disability"	""
"0000203095"	"00139"	"00265298"	"03382"	"Isolated (sporadic)"	"27y"	"fair hair and skin; birth 39w, 2.92 kg; poor speech (HP:0002465)"	"00y"	"39 weeks, 2.92 kg"	"27y"	""	""	""	""	""	""	""	""	""	""	"Intellectual disability"	"Intellectual disability"	""
"0000203096"	"00139"	"00265299"	"03382"	"Isolated (sporadic)"	"00y07m"	"described as clear with pigmented patch; birth 41w, 3.118 kg; motor delay (HP:0001270); mild-moderate speech delay (HP:0000750)"	"00y07m"	"41 weeks, 3.118 kg"	"13y"	""	""	""	""	""	""	""	""	""	""	"Intellectual disability"	"Intellectual disability"	""
"0000203097"	"00139"	"00265300"	"03382"	"Isolated (sporadic)"	"00y03m"	"fair skin and hair; birth 42w, 3.1 kg; motor delay (HP:0001270); no speech (HP:0001344)"	"00y03m"	"42 weeks, 3.1 kg"	"07y"	""	""	""	""	""	""	""	""	""	""	"Intellectual disability"	"Intellectual disability"	""
"0000203098"	"00139"	"00265302"	"03382"	"Isolated (sporadic)"	"01y"	"birth 41w, 3.145 kg; motor delay (HP:0001270); mild-moderate speech delay (HP:0000750)"	"01y"	"41 weeks, 3.145 kg"	"07y"	""	""	""	""	""	""	""	""	""	""	"Intellectual disability"	"Intellectual disability"	""
"0000203099"	"00139"	"00265303"	"03382"	"Isolated (sporadic)"	"00y09m"	"birth 40w, 2.98 kg; motor delay (HP:0001270); mild-moderate speech delay (HP:0000750)"	"00y09m"	"40 weeks, 2.98 kg"	"09y"	""	""	""	""	""	""	""	""	""	""	"Intellectual disability"	"Intellectual disability"	""
"0000203101"	"04240"	"00265304"	"03382"	"Isolated (sporadic)"	"00y03m"	"Retinal detachment HP:0000541\r\nVitreous floaters HP:0100832\r\nMicrocephaly HP:0000252\r\nGlobal developmental delay HP:0001263"	""	""	"01y03m"	""	""	""	""	""	""	""	""	""	""	"Familial Exudative Vitreoretinopathy"	"Norrie-like retinopathy"	""
"0000203102"	"04240"	"00265305"	"03382"	"Isolated (sporadic)"	"01y10m"	"Autism HP:0000717\r\nGlobal developmental delay HP:0001263\r\nLipomeningocele HP:0030710\r\nRetinal fold HP:0008052\r\nRetinal detachment HP:0000541"	"?"	""	"01y10m"	""	""	""	""	""	""	""	""	""	""	"Familial Exudative Vitreoretinopathy"	"Norrie-like retinopathy"	""
"0000203106"	"00139"	"00265309"	"03382"	"Isolated (sporadic)"	"14y"	"Intellectual disability HP:0001249; Autistic behavior HP:0000729; Spastic diplegia HP:0001264; Hypoplasia of the brainstem HP:0002365; Microcephaly HP:0000252; mild intellectual disability (HP:0001256); global developmental delay (HP:0001263)"	"00y"	"?"	"14y"	""	""	""	""	""	""	""	""	""	""	"Intellectual disability"	"Intellectual disability"	""
"0000203112"	"00139"	"00265314"	"03382"	"Isolated (sporadic)"	"00y06m"	"Global developmental delay HP:0001263; Microcephaly HP:0000252; Neonatal hypotonia HP:0001319; Strabismus HP:0000486; Hypermetropia HP:0000540; Syringomyelia HP:0003396; single umbilical artery, normal weight and length but primary microcephaly (−2.79 SD); intellectual disability (HP:0001249); motor delay (HP:0001270); severe speech delay (HP:0000750)"	"00y06m"	"single umbilical artery, normal weight and length but primary microcephaly (−2.79 SD)"	"04y"	""	""	""	""	""	""	""	""	""	""	"Intellectual disability"	"Intellectual disability"	""
"0000203240"	"00639"	"00265438"	"00596"	"Unknown"	"31y"	"fetal adenocarcinoma of the lung"	""	""	"31y"	""	""	""	""	""	""	""	""	""	""	"well-differentiated fetal adenocarcinoma"	"primary lung adenocarcinomas"	""
"0000207171"	"00198"	"00269339"	"01164"	"Unknown"	""	"Abnormality of movement (HP:0100022); Intellectual disability (HP:0001249); Abnormality of nervous system physiology (HP:0012638); Choreoathetosis (HP:0001266); Dystonia (HP:0001332); Involuntary movements (HP:0004305)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000208432"	"00139"	"00273459"	"03382"	"Unknown"	"29y"	"Intellectual disability HP:0001249 Autistic behavior HP:0000729 Spastic diplegia HP:0001264 Hypoplasia of the brainstem HP:0002365 Microcephaly HP:0000252; Aphasia HP:0002381; severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); severe speech delay (HP:0000750)"	"00y06m"	""	"29y"	""	""	""	""	""	""	""	""	""	""	"Intellectual disability"	"Intellectual disability"	""
"0000208433"	"00139"	"00273460"	"03382"	"Unknown"	"04y"	"Intellectual disability HP:0001249; Aphasia HP:0002381; Hypoplasia of the brainstem HP:0002365 Microcephaly HP:0000252; Hypermetropia HP:0000540; borderline intellectual disability (HP:0006889); motor delay (HP:0001270); nasal speech (HP:0001611); articulation difficulties (HP:0009088); dysarthria (HP:0001260)"	"00y"	""	"04y"	""	""	""	""	""	""	""	""	""	""	"Intellectual disability"	"Intellectual disability"	""
"0000208434"	"00139"	"00265327"	"03382"	"Isolated (sporadic)"	"05y"	"Aphasia HP:0002381; Muscular hypotonia of the trunk HP:0008936; Lower limb hypertonia HP:0006895; birth 37w, normal birth weight and length but small OFC (−2.1 SD); intellectual disability (HP:0001249); global developmental delay (HP:0001263); motor delay (HP:0001270); neurodevelopmental delay (HP:0012758); no speech (HP:0001344); loss of speech (HP:0002371)"	"00y"	"gestational age:37w, normal birth weight and length but small OFC (−2.1 SD)"	"05y"	""	""	""	""	""	""	""	""	""	""	"Intellectual disability"	"Intellectual Disability"	""
"0000208435"	"00139"	"00273461"	"03382"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000208436"	"04240"	"00273462"	"03382"	"Isolated (sporadic)"	"00y01m"	"Retinal detachment HP:0000541\r\nVitreous hemorrhage HP:0007902\r\nRubeosis iridis HP:0025319"	"00y?"	""	"00y01m"	""	""	""	""	""	""	""	""	""	""	"Familial Exudative Vitreoretinopathy"	"Norrie-like retinopathy"	""
"0000208438"	"04240"	"00273464"	"03382"	"Familial, autosomal dominant"	"11y"	"Macular exudate HP:0030496\r\nPeripheral retinal avascularization HP:0007685\r\nRetinal hole HP:0011530\r\nRetinal detachment HP:0000541"	"?"	""	"11y"	""	""	""	""	""	""	""	""	""	""	"Familial Exudative Vitreoretinopathy"	"Norrie-like retinopathy"	""
"0000209078"	"04240"	"00274132"	"03382"	"Familial, autosomal dominant"	"18y?"	"Retinal detachment HP:0000541\r\nVitreoretinopathy HP:0007773\r\nVitreomacular traction HP:0031151\r\nRetinal fold HP:0008052"	"00y?"	""	"18y?"	""	""	""	""	""	""	""	""	""	""	"Familial Exudative Vitreoretinopathy"	"Norrie-like retinopathy"	""
"0000209079"	"04240"	"00274133"	"03382"	"Unknown"	"50y?"	"Nystagmus HP:0000639\r\nCorneal opacity HP:0007957\r\nBlindness HP:0000618"	"?"	""	"?"	""	""	""	""	""	""	""	""	""	""	"Familial Exudative Vitreoretinopathy"	"Norrie-like retinopathy"	""
"0000209080"	"04240"	"00274134"	"03382"	"Familial, autosomal dominant"	"10y"	"Abnormal retinal morphology HP:0000479"	"?"	""	"10y"	""	""	""	""	""	""	""	""	""	""	"Familial Exudative Vitreoretinopathy"	"Norrie-like retinopathy"	""
"0000209081"	"00139"	"00274135"	"03382"	"Unknown"	"02y05m"	"Motor delay HP:0001270; Delayed speech and language development HP:0000750; Hip dysplasia HP:0001385; Hypertonia HP:0001276; Microcephaly HP:0000252; brith normal measurements; intellectual disability (HP:0001249); global developmental delay (HP:0001263); motor delay (HP:0001270); delayed social development (HP:0012434); severe speech delay (HP:0000750)"	"00y05m"	"normal measurements"	"00y05m"	""	""	""	""	""	""	""	""	""	""	"Intellectual Disability"	"Intellectual Disability"	""
"0000209082"	"00139"	"00274136"	"03382"	"Isolated (sporadic)"	"15y04m"	"Motor delay HP:0001270; Delayed speech and language development HP:0000750; Muscular hypotonia of the trunk HP:0008936; Limb hypertonia HP:0002509; Strabismus HP:0000486; brith normal measurements; intellectual disability (HP:0001249); motor delay (HP:0001270); speech delay (HP:0000750)"	"00y03m"	"normal measurements"	"00y03m"	""	""	""	""	""	""	""	""	""	""	"Intellectual Disability"	"Intellectual Disability"	""
"0000209083"	"00139"	"00274137"	"03382"	"Isolated (sporadic)"	"05y07m"	"Motor delay HP:0001270; Delayed speech and language development HP:0000750; Microcephaly HP:0000252; brith normal measurements; intellectual disability (HP:0001249); motor delay (HP:0001270); poor speech (HP:0002465)"	"00y01m"	"normal measurements"	"00y01m"	""	""	""	""	""	""	""	""	""	""	"Intellectual Disability"	"Intellectual Disability"	""
"0000209151"	"00139"	"00274138"	"03382"	"Isolated (sporadic)"	"13y02m"	"Global developmental delay HP:0001263; Attention deficit hyperactivity disorder HP:0007018; Anxiety HP:0000739; Abnormality of the spinal cord HP:0002143; Scoliosis HP:0002650; Strabismus HP:0000486; Myopia HP:0000545; Tics HP:0100033; brith normal measurements; mild/moderate intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750)"	"01y06m"	"normal measurements"	"01y06m"	""	""	""	""	""	""	""	""	""	""	"Intellectual Disability"	"Intellectual Disability"	""
"0000209152"	"00139"	"00274206"	"03382"	"Isolated (sporadic)"	"10y11m"	"Autism HP:0000717; Esotropia HP:0000565; Cerebral palsy HP:0100021; Muscular hypotonia of the trunk HP:0008936; Limb hypertonia HP:0002509; Attention deficit hyperactivity disorder HP:0007018; Microcephaly HP:0000252; Oligodontia HP:0000677; brith normal measurements; mild/moderate intellectual disability (HP:0001249); mild global developmental delay (HP:0011342); speech delay (HP:0000750)"	"01y"	"normal measurements"	"01y"	""	""	""	""	""	""	""	""	""	""	"Intellectual Disability"	"Intellectual Disability"	""
"0000209153"	"00139"	"00274207"	"03382"	"Isolated (sporadic)"	"00y02m"	"Microcephaly HP:0000252; Seizures HP:0001250; Neurodevelopmental delay HP:0012758; Muscular hypotonia of the trunk HP:0008936; Limb hypertonia HP:0002509; Esodeviation HP:0020045; Ventriculomegaly HP:0002119; Dysplastic corpus callosum HP:0006989; Abnormal cortical gyration HP:0002536; Hypoplasia of the brainstem HP:0002365; brith normal weight and length but mild microcephaly; intellectual disability (HP:0001249); global developmental delay (HP:0001263); neurodevelopmental delay (HP:0012758); poor speech (HP:0002465)"	"00y"	"normal weight and length but mild microcephaly"	"00y"	""	""	""	""	""	""	""	""	""	""	"Intellectual Disability"	"Intellectual Disability"	""
"0000209154"	"00139"	"00274208"	"03382"	"Isolated (sporadic)"	"02y"	"Muscular hypotonia of the trunk HP:0008936; Limb hypertonia HP:0002509; brith normal measurements reported; intellectual disability (HP:0001249); motor delay (HP:0001270); poor speech (HP:0002465)"	"01y01m"	"normal measurements reported"	"01y01m"	""	""	""	""	""	""	""	""	""	""	"Intellectual Disability"	"Intellectual Disability"	""
"0000209155"	"00139"	"00274209"	"03382"	"Isolated (sporadic)"	"04y"	"Esotropia HP:0000565; Cutis marmorata telangiectatica congenita HP:0025107; brith normal measurements, single umbilical artery; intellectual disability (HP:0001249); global developmental delay (HP:0001263); motor delay (HP:0001270); neurodevelopmental delay (HP:0012758); poor speech (HP:0002465)"	"00y06m"	"normal measurements, single umbilical artery"	"00y06m"	""	""	""	""	""	""	""	""	""	""	"Intellectual Disability"	"Intellectual Disability"	""
"0000209156"	"00139"	"00274210"	"03382"	"Isolated (sporadic)"	"02y04m"	"Global developmental delay HP:0001263; Microcephaly HP:0000252; intellectual disability (HP:0001249); global developmental delay (HP:0001263); fine motor development delay (HP:0010862); gross motor development delay (HP:0002194); speech delay (HP:0000750)"	"02y04m"	""	"02y04m"	""	""	""	""	""	""	""	""	""	""	"Intellectual Disability"	"Intellectual Disability"	""
"0000209157"	"00139"	"00274211"	"03382"	"Isolated (sporadic)"	"13y"	"Strabismus HP:0000486; Autism HP:0000717; intellectual disability (HP:0001249); global developmental delay (HP:0001263); delayed social development (HP:0012434); speech delay (HP:0000750)"	"00y"	""	"00y"	""	""	""	""	""	""	""	""	""	""	"Intellectual Disability"	"Intellectual Disability"	""
"0000209158"	"00139"	"00274212"	"03382"	"Isolated (sporadic)"	"06y"	"Axial Hypertonia; Microcephaly HP:0000252; brith normal measurements; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750)"	"00y08m"	"normal measurements"	"00y08m"	""	""	""	""	""	""	""	""	""	""	"Intellectual Disability"	"Intellectual Disability"	""
"0000209159"	"00139"	"00274213"	"03382"	"Isolated (sporadic)"	"01y02m"	"Muscular hypotonia of the trunk HP:0008936; Limb hypertonia HP:0002509; brith normal measurements; intellectual disability (HP:0001249); global developmental delay (HP:0001263); mild-moderate speech delay (HP:0000750)"	"00y06m"	"normal measurements"	"00y06m"	""	""	""	""	""	""	""	""	""	""	"Intellectual Disability"	"Intellectual Disability"	""
"0000209160"	"00139"	"00274214"	"03382"	"Isolated (sporadic)"	"00y02m"	"Motor delay HP:0001270; Truncal ataxia HP:0002078; Limb hypertonia HP:0002509; intellectual disability (HP:0001249); global developmental delay (HP:0001263); neurodevelopmental delay (HP:0012758);developmental regression (HP:0002376); developmental stagnation (HP:0007281); loss of speech (HP:0002371); incomprehensible speech (HP:0002546)"	"00y02m"	""	"00y02m"	""	""	""	""	""	""	""	""	""	""	"Intellectual Disability"	"Intellectual Disability"	""
"0000229965"	"00198"	"00302887"	"00006"	"Isolated (sporadic)"	"19y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Rett-like syndrome"	""
"0000230065"	"05521"	"00302982"	"00006"	"Isolated (sporadic)"	""	"Fever related seizures; age onset unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	"MRD19"	"seizures"	""
"0000233061"	"01544"	"00307257"	"03753"	"Unknown"	""	"Unilateral"	""	""	"00y22m"	"HP:0000486"	""	""	""	""	""	""	""	""	""	""	""	""
"0000233062"	"01544"	"00307258"	"03753"	"Unknown"	""	"Bilateral"	""	""	"00y15m"	"HP:0000555"	""	""	""	""	""	""	""	""	""	""	""	""
"0000268941"	"00198"	"00373715"	"01864"	"Familial, autosomal dominant"	""	"HP:0000252; HP:0001252; HP:0002530; HP:0001249; HP:0002539; HP:0001263; HP:0025336; HP:0000750; HP:0009887; HP:0000486; HP:0001999; HP:0012387"	""	""	""	""	""	""	""	""	""	""	""	""	""	"MRD19"	""	""
"0000269916"	"00198"	"00374706"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"microcephaly, intellectual disability"	""
"0000274076"	"03823"	"00380224"	"01164"	"Familial, autosomal dominant"	"03y"	"Delayed speech and language development, Global developmental delay, Gait disturbance, Neurological speech impairment, Language impairment, Poor speech, Embryonal neoplasm, Teratoma, Neurodevelopmental delay, Abnormality of movement, Germ cell neoplasia"	""	"fetofetal transfusion syndrome, twin sister also with neurodevelopmental delay"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000279256"	"04214"	"00385461"	"00000"	"Familial, autosomal dominant"	""	""	"<1y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital cataracts; microphthalmia; microcephaly; developmental delay"	""
"0000279715"	"05976"	"00385912"	"00006"	"Unknown"	"3y"	"syndromic selective tooth agenesis, intellectual disability"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"selective tooth agenesis"	""
"0000308343"	"04214"	"00416623"	"00000"	"Isolated (sporadic)"	"03y"	"Autism HP:0000717 Global developmental delay HP:0001263 Lipomeningocele HP:0030710 Retinal fold HP:0008052 Retinal detachment HP:0000541; 1y10m: depth perception problems; medical history: lipomyelomeningocele, failure to thrive, short stature, developmental delay, and behaviors on the autism spectrum; born at 34 and 1/7 week gestation, birth weight: 1842 g but natural history not consistent with retinopathy of prematurity; newborn screening: normal; bilateral hyperopic astigmatism; prescribed spectacles; 3y: left eye preference - retinal detachment; normal anterior segments of both eyes; fundoscopy: right eye: exudative macular detachment with retinal elevation in the peripapillary area extending to the inferotemporal periphery, initial stages of retinal fold formation in the posterior pole with a falciform fold in the inferotemporal periphery, vitreous overlying this fold was abnormal and generating traction, and exudates were present at the base of the fold; retinal periphery markedly avascular; left eye: elevated optic nerve, a normal macula, and premature pruning of the temporal retinal vessels; fluorescein angiography: right eye: early leakage from the abnormal retinal vessels, peripheral vessels pruned off with complete avascularity of the far periphery; left eye: similar peripheral vascular pruning temporally more than nasally; laser photocoagulation of the peripheral retina, subsequently underwent prophylactic laser photocoagulation of the left eye several weeks later"	""	""	""	""	""	""	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy (FEVR)"	""	""
"0000312650"	"04214"	"00421411"	"00000"	"Familial, autosomal dominant"	"8m"	"born at 39-week gestation with a birth weight of 3146 g; uncomplicated pregnancy and delivery; initial visual acuity: fair fixation and following; fundus characteristics: both eyes falciform retinal folds extending from optic discs to temporal retina, peripheral retinal avascularity (confirmed on fluorescein angiography); fundus characteristics: myopia post scleral buckle; systemic findings: microcephaly and mild motor delay; disease course and follow-up: left eye fold with subretinal fluid at presentation both eyes argon laser photocoagulation and scleral buckle surgery at age of 2 month; left eye had also an additional pars plana vitrectomy to separate the posterior hyaloid; at the 8th month follow-up, the patient was able to fixate and follow both eyes"	"2m"	""	""	""	""	""	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy (FEVR) and microcephaly"	""	""
"0000312747"	"04214"	"00421511"	"00000"	"Isolated (sporadic)"	"1y3m"	"pregnancy, ultrasound scan showed intrauterine growth retardation; weight: 2.35 kg at birth; family history: negative for birth defects, developmental delay, intellectual delay, and/or any other neurological disorders; normal neonatal period, motor retardation (not able to raise her head at 3m); craniofacial dysmorphism; microcephaly; polydactyly; hypotonia; 4m: ophthalmologic examination: blindness in the left eye when her parents wanted to treat strabismus her left eye; ultrasonic examination: a retinal detachment in the left eye; right eye: normal; 15m: raised her head but unstably, not able to sit; language delayed development; able to make some sounds, but cannot; intelligence lower than her peers as judged by the parents: physical examination: weight 7.5 kg (-2.46 SD), height 72.5 cm(-2.29 SD), occipitofrontal circumference 41 cm (-4.17 SD), anterior frontal was closure, light hair color, fair skin, low set ears, flat nasal bridge, strabismus in the left eye, thin upper lip, polydactyly in the right hand, but not in the feet; systolic murmur of grade 2/6 in the 3–4 intercostals of the precordial area; lung and abdomen are normal; tension of trunk and peripheral limbs decreased significantly; bilateral tendon reflexes were weakened, Babbitt’s sign was negative, and no sign of spastic paralysis; auxiliary examination: the whole blood count, urine routine test biochemical test, thyroid function, and the level of 25 (OH) D3 were all normal; color Doppler echocardiography: atrial septal defect, right heart enlargement, pulmonary hypertension, and tricuspid regurgita"	"0m"	""	"1y8m"	""	""	""	""	""	""	""	""	""	""	"neurodevelopmental disorder with retinal detachment and polydactyly"	""	""
"0000312762"	"04214"	"00421526"	"00000"	"Isolated (sporadic)"	"1y11m"	"born at 36 weeks 5 days gestation, pregnancy complicated by oligohydramnios; microcephaly; poor feeding/ poor weight gain; globally developmentally delayed; magnetic resonance imaging of the brain: structurally normal; magnetic resonance imaging of the spine: possible tethered cord, for which the patient underwent surgery; hypotonic in the trunk and upper extremities, spastic in the lower extremities; ophthalmologic exam: intermittent exotropia with suspected amblyopia of the right eye; mild hyperopia"	"0m"	""	"1y8m"	"microcephaly"	""	""	""	""	""	""	""	""	""	""	""	""
"0000312763"	"04214"	"00421527"	"00000"	"Isolated (sporadic)"	"7y"	"delivery induced due to poor fetal growth; pregnancy complicated by gestational diabetes; microcephaly at birth; poor weight gain and short stature in childhood; globally developmentally delayed; repetitive behaviors and occasional bites and pinches of other people; restless leg syndrome; bradykinesia and toe walking; hypertonia in the lower extremities; magnetic resonance imaging of the brain: structurally normal; ophthalmologic exam: mild intermittent esotropia, mild hyperopia, mild astigmatism"	"0m"	""	"6y"	"microcephaly"	""	""	""	""	""	""	""	""	""	""	""	""
"0000312764"	"04214"	"00421528"	"00000"	"Isolated (sporadic)"	"11y"	"born at term after being noted to have poor growth in utero, small for gestational age at birth; microcephaly; no feeding issues; constipation; gross and fine motor delays, and some articulation issues but otherwise normal speech development; repetitive behaviors of hand-wringing and nail-picking; overall hypotonic, spasticity in the lower extremities bilaterally; duplicated left thumb; ophthalmologially history of retinal detachment repair and lensectomy in infancy (right eye) and early childhood (left eye), following retinal detachment thought to be secondary to FEVR, with mild microcornea, aphakic glaucoma, and legal blindness in the right eye, and total retinal detachment with no light perception in the left eye"	"0m"	""	"6y"	"microcephaly"	""	""	""	""	""	""	""	""	""	""	""	""
"0000312765"	"04214"	"00421529"	"00000"	"Isolated (sporadic)"	"3y"	"small for gestational age; microcephaly at birth after a reportedly uncomplicated prenatal course; global developmental delay, feeding aversion, poor weight gain; type I diabetes; hypotonic though her tone did seem to improve as she grew older; magnetic resonance imaging of the brain: unremarkable, but on spectroscopy, abnormal lactate peak; ophthalmologic exam: bilateral tractional vitreoretinopathy with history of bilateral retinal detachments as well as strabismus, hyperopia, and astigmatism"	"0m"	""	"2y"	"microcephaly"	""	""	""	""	""	""	""	""	""	""	""	""
"0000312766"	"04214"	"00421530"	"00000"	"Isolated (sporadic)"	"4y"	"born prematurely at 24 weeks of gestation, discharged from the neonatal intensive care unit at 84 days of life; microcephaly: not noted at birth, but did develop as he progressed into early childhood; feeding difficulties, reflux, silent aspiration, and constipation; underwent tonsillectomy and adenoidectomy for sleep apnea; global developmental delay; autism spectrum disorder; self-injurious behaviors; truncal hypotonia with hypertonicity in the distal extremities; choreiform movements and intention tremor; magnetic resonance imaging of the brain: unremarkable; ophthalmologically: retinopathy of prematurity in addition to cortical visual impairment and strabismus"	"0m"	""	"1y11m"	"microcephaly"	""	""	""	""	""	""	""	""	""	""	""	""
"0000312767"	"04214"	"00421531"	"00000"	"Isolated (sporadic)"	"5y"	"microcephaly at birth; global developmental delay with absent speech; mild asthma; hypotonia with spasticity in the lower extremities; computer tomography and electroencaphalography of the head: normal; ophthalmologic exam: normal"	"0m"	""	"1y"	"microcephaly"	""	""	""	""	""	""	""	""	""	""	""	""
"0000312768"	"04214"	"00421532"	"00000"	"Isolated (sporadic)"	"8y"	"intrauterine growth restriction prenatally (as part of a twin gestation); microcephaly at birth; murmur - echocardiogram: dysplastic and bicuspid pulmonary valve that is now status post valvuloplasty; global developmental delay, absent speech, and self-injurious behaviors, as well as a history of screaming spells; feeding issues and chronic diarrhea - failure to thrive; hypotonia; brain magnetic resonance imaging: only microcephaly and brachycephaly and electroencaphalography: normal; ophthalmologic exam: hyperopia, astigmatism, and esotropia of the left eye"	"0m"	""	"3y"	"microcephaly"	""	""	""	""	""	""	""	""	""	""	""	""
"0000318982"	"00198"	"00428036"	"00006"	"Familial, autosomal dominant"	"9y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321799"	"04240"	"00431190"	"00006"	"Isolated (sporadic)"	""	"see paper"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EVR7"	"exudative vitreoretinopathy"	""
"0000321800"	"04240"	"00431191"	"00006"	"Isolated (sporadic)"	""	"see paper"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EVR7"	"exudative vitreoretinopathy"	""
"0000321801"	"04240"	"00431192"	"00006"	"Isolated (sporadic)"	""	"see paper"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EVR7"	"exudative vitreoretinopathy"	""
"0000323898"	"03823"	"00433378"	"01164"	"Unknown"	"12y"	"Autistic behavior, Motor delay, Global developmental delay, Intellectual disability, Spastic gait, Ataxia, Abnormal temper tantrums, Hyperactivity, Axial hypotonia, Hypermetropia"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000324425"	"00139"	"00434046"	"03544"	"Familial, autosomal dominant"	""	"intellectual disability, developmental regression, developmental delay"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325405"	"03823"	"00435201"	"01164"	"Unknown"	""	"Neurodevelopmental delay, Hypotonia, Microcephaly, Expressive language delay, Delayed gross motor development"	""	""	"01y"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000326485"	"03823"	"00436305"	"01164"	"Isolated (sporadic)"	"07y"	"Neurodevelopmental abnormality, Intellectual disability, Dystonia, Hyperreflexia, Microcephaly, Attention deficit hyperactivity disorder, Esodeviation, Delayed speech and language development, Motor delay, Failure to thrive, Gait ataxia"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000330257"	"05611"	"00440347"	"00006"	"Isolated (sporadic)"	"8y"	"epilepsy; facial dysmorphism"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000338970"	"00139"	"00449823"	"03544"	"Isolated (sporadic)"	""	"HP:0002342, HP:0000252, HP:0001250, HP:0002937, HP:0001264,HP:0001999"	""	""	""	""	""	""	""	""	""	""	""	""	""	"NEDSDV"	"intellectual disability"	""
"0000350755"	"05611"	"00465218"	"03544"	"Isolated (sporadic)"	""	"HP:0001256, HP:0001263, HP:0001257, HP:0002385, HP:0030490"	""	""	""	""	""	""	""	""	""	""	""	""	""	"NEDSDV"	"neurodevelopmental disorder"	""


## Screenings ## Do not remove or alter this header ##
## Count = 100
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000050372"	"00050427"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050391"	"00050446"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050397"	"00050452"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050411"	"00050466"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050650"	"00050705"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000081029"	"00080917"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000081118"	"00081006"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000090701"	"00090556"	"1"	"01816"	"00006"	"2016-11-21 16:06:29"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000090702"	"00090557"	"1"	"01816"	"00006"	"2016-11-21 16:06:29"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000090703"	"00090558"	"1"	"01816"	"00006"	"2016-11-21 16:06:29"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000090704"	"00090559"	"1"	"01816"	"00006"	"2016-11-21 16:06:29"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000090705"	"00090560"	"1"	"01816"	"00006"	"2016-11-21 16:06:29"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000090706"	"00090561"	"1"	"01816"	"00006"	"2016-11-21 16:06:29"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000090707"	"00090562"	"1"	"01816"	"00006"	"2016-11-21 16:06:29"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000090708"	"00090563"	"1"	"01816"	"00006"	"2016-11-21 16:06:29"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000184027"	"00183067"	"1"	"00006"	"00006"	"2018-10-12 16:28:55"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000208774"	"00207734"	"1"	"01164"	"01164"	"2018-11-30 13:59:04"	""	""	"SEQ-NG"	"DNA"	""	""
"0000208931"	"00207889"	"1"	"00006"	"00006"	"2018-12-02 17:52:50"	""	""	"SEQ"	"DNA"	""	"WGS"
"0000220253"	"00219180"	"1"	"01807"	"01807"	"2019-02-07 14:50:16"	""	""	"SEQ"	"DNA"	""	""
"0000249957"	"00248854"	"1"	"02135"	"02135"	"2019-07-29 18:52:34"	""	""	"SEQ-NG-I"	"DNA"	""	"WES"
"0000249958"	"00248855"	"1"	"02135"	"02135"	"2019-07-29 19:10:39"	""	""	"SEQ-NG-I"	"DNA"	""	"WES"
"0000249959"	"00248856"	"1"	"02135"	"02135"	"2019-07-29 19:31:21"	""	""	"SEQ-NG"	"DNA"	""	"Clinical WES"
"0000250520"	"00249413"	"1"	"02135"	"02135"	"2019-07-30 17:50:16"	""	""	"SEQ-NG-I"	"DNA"	""	"WES"
"0000250521"	"00249415"	"1"	"03383"	"03383"	"2019-07-30 18:39:56"	""	""	"SEQ-NG-I"	"DNA"	""	"WES"
"0000250522"	"00249414"	"1"	"03382"	"03382"	"2019-07-30 18:39:57"	"03382"	"2019-07-30 19:06:09"	"SEQ-NG-I"	"DNA"	""	"whole genome sequencing"
"0000250523"	"00249416"	"1"	"03382"	"03382"	"2019-07-30 19:17:23"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000263199"	"00262088"	"1"	"03382"	"03382"	"2019-08-17 19:09:23"	""	""	"SEQ"	"DNA"	""	"whole exome sequencing, low-coverage sequencing"
"0000263200"	"00262094"	"1"	"03382"	"03382"	"2019-08-17 19:32:34"	""	""	"SEQ"	"DNA"	"?"	"whole exome sequencing, low-coverage sequencing"
"0000263201"	"00262095"	"1"	"03382"	"03382"	"2019-08-17 21:01:11"	""	""	"SEQ"	"DNA"	"lung"	""
"0000266376"	"00265257"	"1"	"00006"	"00006"	"2019-09-18 10:59:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000266412"	"00265293"	"1"	"03382"	"03382"	"2019-09-19 12:21:06"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000266413"	"00265294"	"1"	"03382"	"03382"	"2019-09-19 12:34:38"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000266414"	"00265295"	"1"	"03382"	"03382"	"2019-09-19 12:45:05"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000266415"	"00265296"	"1"	"03382"	"03382"	"2019-09-19 13:03:29"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000266416"	"00265297"	"1"	"03382"	"03382"	"2019-09-19 13:10:03"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000266417"	"00265298"	"1"	"03382"	"03382"	"2019-09-19 13:18:19"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000266418"	"00265299"	"1"	"03382"	"03382"	"2019-09-19 13:24:36"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000266419"	"00265300"	"1"	"03382"	"03382"	"2019-09-19 13:30:39"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000266420"	"00265302"	"1"	"03382"	"03382"	"2019-09-19 13:36:53"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000266421"	"00265303"	"1"	"03382"	"03382"	"2019-09-19 13:42:03"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000266423"	"00265304"	"1"	"03382"	"03382"	"2019-09-19 15:29:03"	"03382"	"2019-09-19 15:34:02"	"SEQ"	"DNA"	"blood"	"whole exome sequencing"
"0000266424"	"00265305"	"1"	"03382"	"03382"	"2019-09-19 19:43:37"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000266429"	"00265309"	"1"	"03382"	"03382"	"2019-09-19 20:19:41"	""	""	"SEQ-NG"	"DNA"	"?"	"whole exome sequencing"
"0000266434"	"00265314"	"1"	"03382"	"03382"	"2019-09-19 23:07:11"	""	""	"SEQ-NG-I"	"DNA"	"?"	""
"0000266563"	"00265438"	"1"	"00596"	"00596"	"2019-09-25 19:07:43"	""	""	"SEQ-NG-I"	"DNA"	"Lung"	"NGS on Lung core 56 Gene Panel (Burning Rock)"
"0000270481"	"00269339"	"1"	"01164"	"01164"	"2019-11-20 18:18:18"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000274615"	"00273459"	"1"	"03382"	"03382"	"2019-12-23 10:44:14"	""	""	"SEQ-NG-I"	"DNA"	"unkown"	""
"0000274616"	"00273460"	"1"	"03382"	"03382"	"2019-12-23 13:17:28"	""	""	"SEQ-NG-I"	"DNA"	"unkown"	""
"0000274617"	"00265327"	"1"	"03382"	"00006"	"2019-12-23 13:35:39"	"03382"	"2019-12-24 14:13:41"	"SEQ-NG-I"	"DNA"	""	""
"0000274618"	"00273461"	"1"	"03382"	"00006"	"2019-12-23 13:43:47"	""	""	"SEQ"	"DNA"	""	"wes"
"0000274619"	"00273462"	"1"	"03382"	"03382"	"2019-12-23 14:03:45"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"whole exome sequencing"
"0000274621"	"00273464"	"1"	"03382"	"03382"	"2019-12-23 14:20:29"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"whole exome sequencing"
"0000275288"	"00274132"	"1"	"03382"	"03382"	"2019-12-24 11:54:38"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	""
"0000275289"	"00274133"	"1"	"03382"	"03382"	"2019-12-24 12:06:12"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	""
"0000275290"	"00274134"	"1"	"03382"	"03382"	"2019-12-24 12:12:40"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	""
"0000275291"	"00274135"	"1"	"03382"	"03382"	"2019-12-24 14:00:24"	"03382"	"2019-12-24 14:15:39"	"SEQ-NG-I"	"DNA"	"?"	""
"0000275292"	"00274136"	"1"	"03382"	"03382"	"2019-12-24 14:17:18"	""	""	"SEQ-NG-I"	"DNA"	"?"	"whole exome sequencing"
"0000275293"	"00274137"	"1"	"03382"	"03382"	"2019-12-24 14:26:03"	""	""	"SEQ-NG-I"	"DNA"	"?"	"whole exome sequencing"
"0000275361"	"00274138"	"1"	"03382"	"03382"	"2019-12-24 18:06:40"	""	""	"SEQ-NG-I"	"DNA"	"?"	"whole exome sequencing"
"0000275362"	"00274206"	"1"	"03382"	"03382"	"2019-12-24 18:24:26"	""	""	"SEQ-NG-I"	"DNA"	"?"	"whole exome sequencing"
"0000275363"	"00274207"	"1"	"03382"	"03382"	"2019-12-24 19:11:22"	""	""	"SEQ-NG-I"	"DNA"	"?"	"whole exome sequencing"
"0000275365"	"00274208"	"1"	"03382"	"03382"	"2019-12-24 20:08:11"	""	""	"SEQ-NG-I"	"DNA"	""	"whole exome sequencing"
"0000275366"	"00274209"	"1"	"03382"	"03382"	"2019-12-24 20:56:11"	""	""	"SEQ-NG-I"	"DNA"	"?"	"whole exome sequencing"
"0000275367"	"00274210"	"1"	"03382"	"03382"	"2019-12-24 21:05:23"	""	""	"SEQ-NG-I"	"DNA"	"?"	"whole exome sequencing"
"0000275368"	"00274211"	"1"	"03382"	"03382"	"2019-12-24 21:25:35"	""	""	"SEQ-NG-I"	"DNA"	"?"	"whole exome sequencing"
"0000275369"	"00274212"	"1"	"03382"	"03382"	"2019-12-24 21:32:56"	""	""	"SEQ-NG-I"	"DNA"	"?"	"whole exome sequencing"
"0000275370"	"00274213"	"1"	"03382"	"03382"	"2019-12-24 21:42:20"	""	""	"SEQ-NG-I"	"DNA"	"?"	"whole exome sequencing"
"0000275371"	"00274214"	"1"	"03382"	"03382"	"2019-12-24 21:50:38"	""	""	"SEQ-NG-I"	"DNA"	"?"	""
"0000304013"	"00302887"	"1"	"00006"	"00006"	"2020-06-03 14:59:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000304107"	"00302982"	"1"	"00006"	"00006"	"2020-06-05 14:08:27"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000308399"	"00307257"	"1"	"03753"	"03753"	"2020-08-06 23:25:39"	""	""	"SEQ-NG-I"	"DNA"	"blood/FFPE tumor"	"160 genes"
"0000308400"	"00307258"	"1"	"03753"	"03753"	"2020-08-07 03:26:45"	""	""	"SEQ-NG-I"	"DNA"	"blood/FFPE tumor"	"160 genes"
"0000308869"	"00307729"	"1"	"00006"	"00006"	"2020-08-18 13:19:45"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"565 gene panel"
"0000308870"	"00307730"	"1"	"00006"	"00006"	"2020-08-18 13:19:45"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"565 gene panel"
"0000374948"	"00373715"	"1"	"01864"	"01864"	"2021-05-19 04:50:52"	"01864"	"2021-05-24 10:13:38"	"SEQ-NG"	"DNA"	"blood"	"WGS"
"0000375900"	"00374706"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000381426"	"00380224"	"1"	"01164"	"01164"	"2021-08-12 17:15:08"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000386690"	"00385461"	"1"	"00000"	"03840"	"2021-10-12 17:40:23"	""	""	"SEQ-NG"	"DNA"	"blood"	"genome sequencing"
"0000387140"	"00385912"	"1"	"00006"	"00006"	"2021-10-18 13:33:16"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"disease gene panel"
"0000417905"	"00416623"	"1"	"00000"	"03840"	"2022-09-07 11:08:08"	""	""	"SEQ-NG-S;SEQ"	"DNA"	""	"clinical whole exome sequencing"
"0000422722"	"00421411"	"1"	"00000"	"03840"	"2022-11-05 10:52:11"	""	""	"SEQ"	"DNA"	""	""
"0000422822"	"00421511"	"1"	"00000"	"03840"	"2022-11-06 18:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000422837"	"00421526"	"1"	"00000"	"03840"	"2022-11-07 13:33:04"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000422838"	"00421527"	"1"	"00000"	"03840"	"2022-11-07 13:33:04"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000422839"	"00421528"	"1"	"00000"	"03840"	"2022-11-07 13:33:04"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000422840"	"00421529"	"1"	"00000"	"03840"	"2022-11-07 13:33:04"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000422841"	"00421530"	"1"	"00000"	"03840"	"2022-11-07 13:33:04"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000422842"	"00421531"	"1"	"00000"	"03840"	"2022-11-07 13:33:04"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000422843"	"00421532"	"1"	"00000"	"03840"	"2022-11-07 13:33:04"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000429449"	"00428036"	"1"	"00006"	"00006"	"2022-12-19 13:11:26"	""	""	"RT-PCR;SEQ;SEQ-NG-RNA"	"DNA;RNA"	"whole blood"	"singleton WES"
"0000432601"	"00431190"	"1"	"00006"	"00006"	"2023-01-31 21:08:44"	""	""	"SEQ"	"DNA"	""	"WES"
"0000432602"	"00431191"	"1"	"00006"	"00006"	"2023-01-31 21:13:43"	""	""	"SEQ"	"DNA"	""	"WES"
"0000432603"	"00431192"	"1"	"00006"	"00006"	"2023-01-31 21:17:14"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000434832"	"00433378"	"1"	"01164"	"01164"	"2023-03-07 10:32:18"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000435509"	"00434046"	"1"	"03544"	"03544"	"2023-03-18 06:34:06"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000436676"	"00435201"	"1"	"01164"	"01164"	"2023-06-06 16:46:32"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000437788"	"00436305"	"1"	"01164"	"01164"	"2023-09-01 14:38:57"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000441832"	"00440347"	"1"	"00006"	"00006"	"2023-11-02 11:20:13"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000451419"	"00449823"	"1"	"03544"	"03544"	"2024-05-16 12:09:46"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"CES"
"0000466868"	"00465218"	"1"	"03544"	"03544"	"2025-04-15 09:54:26"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 59
"{{screeningid}}"	"{{geneid}}"
"0000050372"	"CTNNB1"
"0000050391"	"CTNNB1"
"0000050397"	"CTNNB1"
"0000050411"	"CTNNB1"
"0000050650"	"CTNNB1"
"0000081029"	"CTNNB1"
"0000081118"	"CTNNB1"
"0000090701"	"CTNNB1"
"0000090702"	"CTNNB1"
"0000090703"	"CTNNB1"
"0000090704"	"CTNNB1"
"0000090705"	"CTNNB1"
"0000090706"	"CTNNB1"
"0000090707"	"CTNNB1"
"0000090708"	"CTNNB1"
"0000208931"	"CTNNB1"
"0000266376"	"CTNNB1"
"0000266563"	"BRCA1"
"0000266563"	"BRCA2"
"0000266563"	"CTNNB1"
"0000266563"	"TSC1"
"0000266563"	"TSC2"
"0000274617"	"CTNNB1"
"0000274618"	"CTNNB1"
"0000275291"	"CTNNB1"
"0000275292"	"CTNNB1"
"0000275293"	"CTNNB1"
"0000275361"	"CTNNB1"
"0000275362"	"CTNNB1"
"0000275363"	"CTNNB1"
"0000275365"	"CTNNB1"
"0000275366"	"CTNNB1"
"0000275367"	"CTNNB1"
"0000275368"	"CTNNB1"
"0000275369"	"CTNNB1"
"0000275370"	"CTNNB1"
"0000275371"	"CTNNB1"
"0000304013"	"CTNNB1"
"0000304107"	"CTNNB1"
"0000308869"	"CTNNB1"
"0000308870"	"CTNNB1"
"0000374948"	"CTNNB1"
"0000375900"	"CTNNB1"
"0000381426"	"CTNNB1"
"0000386690"	"CTNNB1"
"0000387140"	"CTNNB1"
"0000417905"	"CTNNB1"
"0000422722"	"CTNNB1"
"0000422822"	"CTNNB1"
"0000422837"	"CTNNB1"
"0000422838"	"CTNNB1"
"0000422839"	"CTNNB1"
"0000422840"	"CTNNB1"
"0000422841"	"CTNNB1"
"0000422842"	"CTNNB1"
"0000422843"	"CTNNB1"
"0000434832"	"CTNNB1"
"0000436676"	"CTNNB1"
"0000437788"	"CTNNB1"


## Variants_On_Genome ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Count = 170
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Restriction_site}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/Genetic_origin}}"	"{{VariantOnGenome/Segregation}}"	"{{VariantOnGenome/dbSNP}}"	"{{VariantOnGenome/VIP}}"	"{{VariantOnGenome/Methylation}}"	"{{VariantOnGenome/ISCN}}"	"{{VariantOnGenome/DNA/hg38}}"	"{{VariantOnGenome/ClinVar}}"	"{{VariantOnGenome/ClinicalClassification}}"	"{{VariantOnGenome/ClinicalClassification/Method}}"
"0000079352"	"0"	"90"	"3"	"41278105"	"41278105"	"subst"	"0"	"00006"	"CTNNB1_000001"	"g.41278105C>T"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.41236614C>T"	""	"pathogenic"	""
"0000079371"	"0"	"90"	"3"	"41268803"	"41268806"	"del"	"0"	"00006"	"CTNNB1_000005"	"g.41268803_41268806del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	"41268800_41268806delGCTATCTinsGCT"	""	"De novo"	""	""	"0"	""	""	"g.41227312_41227315del"	""	"pathogenic"	""
"0000079377"	"0"	"90"	"3"	"41268760"	"41268760"	"dup"	"0"	"00006"	"CTNNB1_000004"	"g.41268760dup"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	"41268759_41268760delTinsTA"	""	"De novo"	""	""	"0"	""	""	"g.41227269dup"	""	"pathogenic"	""
"0000079391"	"0"	"90"	"3"	"41275708"	"41275708"	"subst"	"0"	"00006"	"CTNNB1_000002"	"g.41275708C>T"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.41234217C>T"	""	"pathogenic"	""
"0000079630"	"0"	"90"	"3"	"41277216"	"41277221"	"delins"	"0"	"00006"	"CTNNB1_000003"	"g.41277216_41277221delAGinsA"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message."	"De novo"	""	""	"0"	""	""	"g.41235725_41235730delinsA"	""	"pathogenic"	""
"0000130115"	"0"	"70"	"3"	"41277961"	"41277962"	"del"	"0"	"01758"	"CTNNB1_000006"	"g.41277961_41277962del"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.41236470_41236471del"	""	"likely pathogenic"	"ACMG"
"0000130204"	"0"	"70"	"3"	"41278105"	"41278105"	"subst"	"0"	"01758"	"CTNNB1_000001"	"g.41278105C>T"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.41236614C>T"	""	"likely pathogenic"	"ACMG"
"0000148830"	"1"	"50"	"3"	"41266043"	"41266043"	"subst"	"1.21973E-5"	"01816"	"CTNNB1_000013"	"g.41266043A>G"	""	"Thibodeau lab (Mayo Clinic)"	""	""	""	"Germline"	""	""	"0"	""	""	"g.41224552A>G"	""	"VUS"	""
"0000148831"	"1"	"50"	"3"	"41266229"	"41266229"	"subst"	"0"	"01816"	"CTNNB1_000014"	"g.41266229C>G"	""	"Thibodeau lab (Mayo Clinic)"	""	""	""	"Germline"	""	""	"0"	""	""	"g.41224738C>G"	""	"VUS"	""
"0000148832"	"1"	"50"	"3"	"41266934"	"41266934"	"subst"	"4.07213E-6"	"01816"	"CTNNB1_000007"	"g.41266934T>C"	""	"Thibodeau lab (Mayo Clinic)"	""	""	""	"Germline"	""	""	"0"	""	""	"g.41225443T>C"	""	"VUS"	""
"0000148833"	"1"	"50"	"3"	"41267276"	"41267276"	"subst"	"0.00059367"	"01816"	"CTNNB1_000008"	"g.41267276A>G"	""	"Thibodeau lab (Mayo Clinic)"	""	""	""	"Germline"	""	""	"0"	""	""	"g.41225785A>G"	""	"VUS"	""
"0000148834"	"1"	"50"	"3"	"41274867"	"41274867"	"subst"	"0"	"01816"	"CTNNB1_000009"	"g.41274867C>G"	""	"Thibodeau lab (Mayo Clinic)"	""	""	""	"Germline"	""	""	"0"	""	""	"g.41233376C>G"	""	"VUS"	""
"0000148835"	"1"	"50"	"3"	"41277260"	"41277260"	"subst"	"0"	"01816"	"CTNNB1_000010"	"g.41277260C>G"	""	"Thibodeau lab (Mayo Clinic)"	""	""	""	"Germline"	""	""	"0"	""	""	"g.41235769C>G"	""	"VUS"	""
"0000148836"	"1"	"50"	"3"	"41278166"	"41278166"	"subst"	"4.06544E-6"	"01816"	"CTNNB1_000011"	"g.41278166C>T"	""	"Thibodeau lab (Mayo Clinic)"	""	""	""	"Germline"	""	""	"0"	""	""	"g.41236675C>T"	""	"VUS"	""
"0000148837"	"1"	"50"	"3"	"41279559"	"41279559"	"subst"	"4.87579E-5"	"01816"	"CTNNB1_000012"	"g.41279559G>A"	""	"Thibodeau lab (Mayo Clinic)"	""	""	""	"Germline"	""	""	"0"	""	""	"g.41238068G>A"	""	"VUS"	""
"0000256440"	"0"	"50"	"3"	"41275154"	"41275154"	"subst"	"0"	"01943"	"CTNNB1_000028"	"g.41275154A>G"	""	""	""	"CTNNB1(NM_001904.3):c.1320A>G (p.Q440=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41233663A>G"	""	"VUS"	""
"0000267191"	"0"	"30"	"3"	"41275776"	"41275776"	"subst"	"0"	"02325"	"CTNNB1_000029"	"g.41275776G>A"	""	""	""	"CTNNB1(NM_001904.4):c.1671G>A (p.Q557=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41234285G>A"	""	"likely benign"	""
"0000270638"	"0"	"90"	"3"	"41268844"	"41268844"	"subst"	"0"	"02326"	"CTNNB1_000026"	"g.41268844G>C"	""	""	""	"CTNNB1(NM_001904.4):c.1081+1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41227353G>C"	""	"pathogenic"	""
"0000270639"	"0"	"70"	"3"	"41266113"	"41266113"	"subst"	"0"	"02326"	"CTNNB1_000015"	"g.41266113C>A"	""	""	""	"CTNNB1(NM_001098209.2):c.110C>A (p.S37Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41224622C>A"	""	"likely pathogenic"	""
"0000274582"	"0"	"90"	"3"	"41277893"	"41277894"	"del"	"0"	"01943"	"CTNNB1_000031"	"g.41277893_41277894del"	""	""	""	"CTNNB1(NM_001904.3):c.1857_1858delTG (p.C619*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41236402_41236403del"	""	"pathogenic"	""
"0000274583"	"0"	"50"	"3"	"41280718"	"41280718"	"subst"	"4.06716E-6"	"01943"	"CTNNB1_000034"	"g.41280718C>G"	""	""	""	"CTNNB1(NM_001904.3):c.2231C>G (p.P744R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41239227C>G"	""	"VUS"	""
"0000329334"	"0"	"50"	"3"	"41266539"	"41266540"	"ins"	"0"	"01804"	"CTNNB1_000018"	"g.41266539_41266540insAA"	""	""	""	"CTNNB1(NM_001904.3):c.335_336insAA (p.(Gln113AsnfsTer21))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41225048_41225049insAA"	""	"VUS"	""
"0000329335"	"0"	"50"	"3"	"41266541"	"41266541"	"subst"	"0"	"01804"	"CTNNB1_000019"	"g.41266541A>T"	""	""	""	"CTNNB1(NM_001098209.1):c.338A>T (p.(Gln113Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41225050A>T"	""	"VUS"	""
"0000329336"	"0"	"50"	"3"	"41266544"	"41266544"	"subst"	"0"	"01804"	"CTNNB1_000020"	"g.41266544T>G"	""	""	""	"CTNNB1(NM_001098209.1):c.341T>G (p.(Phe114Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41225053T>G"	""	"VUS"	""
"0000329337"	"0"	"50"	"3"	"41266550"	"41266573"	"del"	"0"	"01804"	"CTNNB1_000021"	"g.41266550_41266573del"	""	""	""	"CTNNB1(NM_001098209.1):c.347_370del (p.(Ala116_Arg124delinsGly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41225059_41225082del"	""	"VUS"	""
"0000329338"	"0"	"50"	"3"	"41266654"	"41266654"	"subst"	"0"	"01804"	"CTNNB1_000022"	"g.41266654C>T"	""	""	""	"CTNNB1(NM_001904.3):c.451C>T (p.(Arg151Cys)), CTNNB1(NM_001904.4):c.451C>T (p.R151C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41225163C>T"	""	"VUS"	""
"0000329339"	"0"	"50"	"3"	"41268761"	"41268761"	"subst"	"0"	"01804"	"CTNNB1_000025"	"g.41268761C>G"	""	""	""	"CTNNB1(NM_001904.3):c.999C>G (p.(Tyr333Ter)), CTNNB1(NM_001904.4):c.999C>G (p.Y333*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41227270C>G"	""	"VUS"	""
"0000329340"	"0"	"50"	"3"	"41278142"	"41278142"	"subst"	"0"	"01804"	"CTNNB1_000032"	"g.41278142G>A"	""	""	""	"CTNNB1(NM_001904.3):c.2018G>A (p.(Arg673Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41236651G>A"	""	"VUS"	""
"0000329341"	"0"	"50"	"3"	"41278183"	"41278183"	"subst"	"4.06643E-6"	"01804"	"CTNNB1_000033"	"g.41278183C>G"	""	""	""	"CTNNB1(NM_001098209.1):c.2059C>G (p.(Pro687Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41236692C>G"	""	"VUS"	""
"0000342959"	"0"	"90"	"3"	"41275254"	"41275254"	"subst"	"0"	"02327"	"CTNNB1_000041"	"g.41275254C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41233763C>T"	""	"pathogenic"	""
"0000343469"	"0"	"90"	"3"	"41266471"	"41266471"	"subst"	"0"	"02327"	"CTNNB1_000035"	"g.41266471C>T"	""	""	""	"CTNNB1(NM_001904.3):c.268C>T (p.R90*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41224980C>T"	""	"pathogenic"	""
"0000343507"	"0"	"90"	"3"	"41266486"	"41266486"	"subst"	"0"	"02327"	"CTNNB1_000017"	"g.41266486C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41224995C>T"	""	"pathogenic"	""
"0000344643"	"0"	"90"	"3"	"41266936"	"41266936"	"subst"	"0"	"02327"	"CTNNB1_000036"	"g.41266936C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41225445C>T"	""	"pathogenic"	""
"0000344799"	"0"	"70"	"3"	"41274874"	"41274875"	"ins"	"0"	"02327"	"CTNNB1_000039"	"g.41274874_41274875insCCTGAACAAG"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41233383_41233384insCCTGAACAAG"	""	"likely pathogenic"	""
"0000349423"	"0"	"50"	"3"	"41267309"	"41267309"	"subst"	"0"	"02327"	"CTNNB1_000038"	"g.41267309C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41225818C>G"	""	"VUS"	""
"0000407992"	"0"	"70"	"3"	"41275106"	"41275109"	"del"	"0"	"00006"	"CTNNB1_000040"	"g.41275106_41275109del"	""	"{PMID:de Ligt 2012:23033978}"	""	""	"candidate variant"	"De novo"	""	""	"0"	""	""	"g.41233615_41233618del"	""	"pathogenic"	""
"0000438739"	"0"	"90"	"3"	"41268760"	"41268760"	"dup"	"0"	"01164"	"CTNNB1_000004"	"g.41268760dup"	""	""	""	""	"ACMG grading: PP5,PM2,PVS1; reported in Prasad  2016. J Med Genet 53: 98 Kharbanda  2017. Eur J Med Genet 60: 130 Strauss  2018. Genet Med 20: 31"	"Germline"	""	"rs886041281"	"0"	""	""	"g.41227269dup"	""	"pathogenic"	"ACMG"
"0000438967"	"0"	"90"	"3"	"41268803"	"41268806"	"del"	"0"	"00006"	"CTNNB1_000005"	"g.41268803_41268806del"	""	"{PMID:Lionel 2018:28771251}"	""	"1041_1044delATCT"	""	"De novo"	""	""	"0"	""	""	"g.41227312_41227315del"	""	"pathogenic"	""
"0000455206"	"0"	"90"	"3"	"41266477"	"41266477"	"subst"	"0"	"01807"	"CTNNB1_000044"	"g.41266477C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.41224986C>T"	""	"pathogenic"	""
"0000519800"	"0"	"90"	"3"	"41266471"	"41266471"	"subst"	"0"	"01943"	"CTNNB1_000035"	"g.41266471C>T"	""	""	""	"CTNNB1(NM_001904.3):c.268C>T (p.R90*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.41224980C>T"	""	"pathogenic"	""
"0000519801"	"0"	"50"	"3"	"41266667"	"41266667"	"subst"	"0"	"02325"	"CTNNB1_000045"	"g.41266667A>G"	""	""	""	"CTNNB1(NM_001904.4):c.464A>G (p.E155G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.41225176A>G"	""	"VUS"	""
"0000519802"	"0"	"30"	"3"	"41266818"	"41266818"	"subst"	"1.62719E-5"	"01943"	"CTNNB1_000046"	"g.41266818A>T"	""	""	""	"CTNNB1(NM_001904.3):c.496-7A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.41225327A>T"	""	"likely benign"	""
"0000519803"	"0"	"50"	"3"	"41266850"	"41266850"	"subst"	"8.13524E-6"	"02327"	"CTNNB1_000047"	"g.41266850T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.41225359T>C"	""	"VUS"	""
"0000519804"	"0"	"30"	"3"	"41266962"	"41266962"	"subst"	"0.000113994"	"01943"	"CTNNB1_000048"	"g.41266962T>C"	""	""	""	"CTNNB1(NM_001904.3):c.633T>C (p.A211=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.41225471T>C"	""	"likely benign"	""
"0000519805"	"0"	"30"	"3"	"41266971"	"41266971"	"subst"	"0.000439614"	"01943"	"CTNNB1_000049"	"g.41266971C>G"	""	""	""	"CTNNB1(NM_001904.3):c.642C>G (p.T214=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.41225480C>G"	""	"likely benign"	""
"0000519806"	"0"	"70"	"3"	"41266988"	"41266988"	"del"	"0"	"01804"	"CTNNB1_000050"	"g.41266988del"	""	""	""	"CTNNB1(NM_001904.3):c.658delA (p.(Asn220ThrfsTer22))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.41225497del"	""	"likely pathogenic"	""
"0000519807"	"0"	"30"	"3"	"41267276"	"41267276"	"subst"	"0.00059367"	"01804"	"CTNNB1_000008"	"g.41267276A>G"	""	""	""	"CTNNB1(NM_001098209.1):c.860A>G (p.(Asn287Ser)), CTNNB1(NM_001904.4):c.860A>G (p.N287S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.41225785A>G"	""	"likely benign"	""
"0000519808"	"0"	"30"	"3"	"41267276"	"41267276"	"subst"	"0.00059367"	"02325"	"CTNNB1_000008"	"g.41267276A>G"	""	""	""	"CTNNB1(NM_001098209.1):c.860A>G (p.(Asn287Ser)), CTNNB1(NM_001904.4):c.860A>G (p.N287S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.41225785A>G"	""	"likely benign"	""
"0000519809"	"0"	"90"	"3"	"41268760"	"41268760"	"dup"	"0"	"01943"	"CTNNB1_000004"	"g.41268760dup"	""	""	""	"CTNNB1(NM_001904.3):c.998dupA (p.Y333*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.41227269dup"	""	"pathogenic"	""
"0000519810"	"0"	"50"	"3"	"41275251"	"41275251"	"subst"	"0"	"02327"	"CTNNB1_000051"	"g.41275251A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.41233760A>C"	""	"VUS"	""
"0000519812"	"0"	"90"	"3"	"41277221"	"41277221"	"dup"	"0"	"01943"	"CTNNB1_000053"	"g.41277221dup"	""	""	""	"CTNNB1(NM_001904.3):c.1690dupG (p.V564Gfs*8)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.41235730dup"	""	"pathogenic"	""
"0000519814"	"0"	"90"	"3"	"41278106"	"41278106"	"del"	"0"	"01943"	"CTNNB1_000055"	"g.41278106del"	""	""	""	"CTNNB1(NM_001904.3):c.1982delG (p.R661Qfs*18)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.41236615del"	""	"pathogenic"	""
"0000519816"	"0"	"30"	"3"	"41280807"	"41280807"	"subst"	"0.00385054"	"01943"	"CTNNB1_000057"	"g.41280807C>T"	""	""	""	"CTNNB1(NM_001904.3):c.2320C>T (p.L774=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.41239316C>T"	""	"likely benign"	""
"0000579038"	"11"	"77"	"3"	"41280629"	"41280644"	"dup"	"0"	"02135"	"CTNNB1_000058"	"g.41280629_41280644dup"	"Absent in gnomAD"	"{PMID:Panagiotou 2017:28575650}"	""	"2142_2157dupTAGCTATCGTTCTTTT"	""	"Germline"	"yes"	"rs1057519380"	"0"	""	""	"g.41239138_41239153dup"	"{CV:000225172}"	"likely pathogenic (dominant)"	""
"0000579039"	"11"	"77"	"3"	"41279558"	"41279558"	"subst"	"1.21893E-5"	"02135"	"CTNNB1_000059"	"g.41279558C>T"	"3/246118 in GnomAD"	"{PMID:Panagiotou 2017:28575650}"	""	""	""	"Germline"	"yes"	"rs748653573"	"0"	""	""	"g.41238067C>T"	"{CV:000225171}"	"likely pathogenic (dominant)"	""
"0000579040"	"0"	"99"	"3"	"41279542"	"41279546"	"dup"	"0"	"02135"	"CTNNB1_000060"	"g.41279542_41279546dup"	""	""	""	"2112_2116dupAGAAC"	""	"De novo"	"-"	""	"0"	""	""	"g.41238051_41238055dup"	""	"pathogenic"	""
"0000579817"	"0"	"99"	"3"	"41268761"	"41268761"	"del"	"0"	"02135"	"CTNNB1_000061"	"g.41268761del"	""	"{PMID:Sun 2019:30640974}"	""	""	""	"Unknown"	"-"	""	"0"	""	""	"g.41227270del"	""	"pathogenic"	""
"0000579818"	"0"	"90"	"3"	"41274854"	"41274854"	"del"	"0"	"03383"	"CTNNB1_000063"	"g.41274854del"	""	""	""	"1104delT"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.41233363del"	""	"pathogenic (dominant)"	""
"0000579819"	"0"	"90"	"3"	"41274854"	"41274854"	"del"	"0"	"03382"	"CTNNB1_000062"	"g.41274854del"	""	"{PMID:Sun 2019:30640974}"	""	"1104delT"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.41233363del"	""	"pathogenic (dominant)"	""
"0000579820"	"0"	"90"	"3"	"41277903"	"41277903"	"subst"	"0"	"03382"	"CTNNB1_000064"	"g.41277903C>T"	""	"{PMID:Sun 2019:30640974}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.41236412C>T"	""	"pathogenic"	""
"0000593679"	"21"	"90"	"3"	"41267064"	"41267064"	"subst"	"0"	"03382"	"CTNNB1_000065"	"g.41267064G>A"	""	"{PMID:Wang 2019:30929091}"	""	""	"469.94kb deletion"	"Germline"	""	""	"0"	""	""	"g.41225573G>A"	""	"pathogenic"	""
"0000593680"	"0"	"90"	"3"	"41267064"	"41267064"	"subst"	"0"	"03382"	"CTNNB1_000065"	"g.41267064G>A"	""	"{PMID:Wang 2019:30929091}"	""	""	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.41225573G>A"	""	"pathogenic"	""
"0000593681"	"0"	"90"	"3"	"41275708"	"41275708"	"subst"	"0"	"03382"	"CTNNB1_000002"	"g.41275708C>T"	""	"{PMID:Karolak 2019:31309540}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.41234217C>T"	""	"pathogenic (dominant)"	""
"0000597036"	"0"	"90"	"3"	"41277269"	"41277273"	"delins"	"0"	"00006"	"CTNNB1_000066"	"g.41277269_41277273delinsACA"	""	"{PMID:Sun 2019:30640974}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.41235778_41235782delinsACA"	""	"pathogenic"	""
"0000597077"	"0"	"90"	"3"	"41277332"	"41277332"	"subst"	"0"	"03382"	"CTNNB1_000071"	"g.41277332C>T"	""	"{PMID: Kharbanda 2017:  27915094 }"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.41235841C>T"	""	"pathogenic"	""
"0000597078"	"0"	"90"	"3"	"41275708"	"41275708"	"subst"	"0"	"03382"	"CTNNB1_000002"	"g.41275708C>T"	""	"{PMID:Kharbanda 2017: 27915094 }"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.41234217C>T"	""	"pathogenic"	""
"0000597079"	"0"	"90"	"3"	"41278105"	"41278105"	"subst"	"0"	"03382"	"CTNNB1_000001"	"g.41278105C>T"	""	"{PMID: Kharbanda 2017: 27915094 }"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.41236614C>T"	""	"pathogenic"	""
"0000597080"	"0"	"90"	"3"	"41275708"	"41275708"	"subst"	"0"	"03382"	"CTNNB1_000002"	"g.41275708C>T"	""	"{PMID: Kharbanda 2017: 27915094 }"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.41234217C>T"	""	"pathogenic"	""
"0000597081"	"0"	"90"	"3"	"41268803"	"41268806"	"del"	"0"	"03382"	"CTNNB1_000068"	"g.41268803_41268806del"	""	"{PMID: Kharbanda 2017: 27915094 }"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.41227312_41227315del"	""	"pathogenic"	""
"0000597082"	"0"	"90"	"3"	"41268761"	"41268761"	"subst"	"0"	"03382"	"CTNNB1_000025"	"g.41268761C>G"	""	"{PMID: Kharbanda 2017: 27915094 }"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.41227270C>G"	""	"pathogenic"	""
"0000597083"	"0"	"90"	"3"	"41275254"	"41275254"	"subst"	"0"	"03382"	"CTNNB1_000041"	"g.41275254C>T"	""	"{PMID: Kharbanda 2017: 27915094 }"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.41233763C>T"	""	"pathogenic"	""
"0000597084"	"0"	"90"	"3"	"41267218"	"41267225"	"del"	"0"	"03382"	"CTNNB1_000067"	"g.41267218_41267225del"	""	"{PMID: Kharbanda 2017: 27915094 }"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.41225727_41225734del"	""	"pathogenic"	""
"0000597085"	"0"	"90"	"3"	"41275717"	"41275717"	"subst"	"0"	"03382"	"CTNNB1_000069"	"g.41275717C>T"	""	"{PMID: Kharbanda 2017: 27915094 }"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.41234226C>T"	""	"pathogenic"	""
"0000597086"	"0"	"90"	"3"	"41268760"	"41268760"	"dup"	"0"	"03382"	"CTNNB1_000004"	"g.41268760dup"	""	"{PMID: Kharbanda 2017: 27915094 }"	""	"998dupA"	""	"De novo"	"yes"	""	"0"	""	""	"g.41227269dup"	""	"pathogenic"	""
"0000597087"	"0"	"90"	"3"	"41275777"	"41275777"	"subst"	"0"	"03382"	"CTNNB1_000070"	"g.41275777C>T"	""	"{PMID:Li 2017:28514307}"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.41234286C>T"	""	"pathogenic"	""
"0000597088"	"0"	"90"	"3"	"41279542"	"41279546"	"dup"	"0"	"03382"	"CTNNB1_000060"	"g.41279542_41279546dup"	""	"{PMID:Dixon 2016:26967979}"	""	"2112_2116dupAGAAC"	""	"De novo"	"yes"	""	"0"	""	""	"g.41238051_41238055dup"	""	"pathogenic"	""
"0000597092"	"0"	"90"	"3"	"41267034"	"41267034"	"dup"	"0"	"03382"	"CTNNB1_000037"	"g.41267034dup"	""	"{PMID:Tucci 2014:24614104 }"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.41225543dup"	""	"pathogenic"	""
"0000597098"	"0"	"90"	"3"	"41277959"	"41277959"	"dup"	"0"	"03382"	"CTNNB1_000072"	"g.41277959dup"	""	"{PMID:Kuechler 2015:25326669}"	""	"1923dupA"	""	"De novo"	"yes"	""	"0"	""	""	"g.41236468dup"	""	"pathogenic"	""
"0000597266"	"0"	"90"	"3"	"41266113"	"41266113"	"subst"	"0"	"00596"	"CTNNB1_000015"	"g.41266113C>A"	"reported as 0.31"	"{PMID:Fu 2018:30268445}"	""	"p.S37Y"	""	"Somatic"	""	""	"0"	""	""	"g.41224622C>A"	""	"pathogenic"	""
"0000604240"	"0"	"90"	"3"	"41275648"	"41275648"	"subst"	"0"	"01164"	"CTNNB1_000052"	"g.41275648C>T"	""	""	""	""	"ACMG: PVS1,PS2,PM2; de Ligt et al. 2012. N Engl J Med 367: 1921"	"Germline"	""	"rs397514554"	"0"	""	""	"g.41234157C>T"	""	"pathogenic"	"ACMG"
"0000608713"	"0"	"50"	"3"	"41277225"	"41277225"	"subst"	"0"	"02327"	"CTNNB1_000073"	"g.41277225G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.41235734G>T"	""	"VUS"	""
"0000608714"	"0"	"50"	"3"	"41277317"	"41277317"	"subst"	"1.21907E-5"	"02329"	"CTNNB1_000074"	"g.41277317A>G"	""	""	""	"CTNNB1(NM_001904.4):c.1786A>G (p.I596V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.41235826A>G"	""	"VUS"	""
"0000628575"	"0"	"90"	"3"	"41275106"	"41275109"	"del"	"0"	"03382"	"CTNNB1_000040"	"g.41275106_41275109del"	""	"{PMID:Tucci 2014:24614104 }"	""	"1272_1275delTTCT"	""	"De novo"	""	""	"0"	""	""	"g.41233615_41233618del"	""	"pathogenic (dominant)"	""
"0000628576"	"0"	"90"	"3"	"41267341"	"41267341"	"subst"	"0"	"03382"	"CTNNB1_000075"	"g.41267341C>T"	"1/765 cases ID"	"{PMID:Tucci 2014:24614104}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.41225850C>T"	""	"pathogenic (dominant)"	""
"0000628577"	"0"	"90"	"3"	"41275254"	"41275254"	"subst"	"0"	"03382"	"CTNNB1_000041"	"g.41275254C>T"	""	"{PMID:Kuechler 2015:25326669}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.41233763C>T"	""	"pathogenic (dominant)"	""
"0000628578"	"0"	"90"	"3"	"41275648"	"41275648"	"subst"	"0"	"03382"	"CTNNB1_000052"	"g.41275648C>T"	""	"{PMID:Tucci 2014:24614104}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.41234157C>T"	""	"pathogenic (dominant)"	""
"0000628579"	"0"	"90"	"3"	"41275268"	"41275269"	"ins"	"0"	"03382"	"CTNNB1_000076"	"g.41275268_41275269insC"	"3/36"	"{PMID: Panagiotou 2017:28575650 }"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.41233777_41233778insC"	""	"pathogenic"	""
"0000628581"	"0"	"90"	"3"	"41279558"	"41279558"	"subst"	"1.21893E-5"	"03382"	"CTNNB1_000059"	"g.41279558C>T"	""	"{PMID: Panagiotou 2017: 28575650 }"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.41238067C>T"	""	"pathogenic"	""
"0000629252"	"11"	"90"	"3"	"41280629"	"41280644"	"dup"	"0"	"03382"	"CTNNB1_000087"	"g.41280629_41280644dup"	""	"{PMID:Panagiotou 2017:28575650 }"	""	"2142_2157dupTAGCTATCGTTCTTTT"	""	"Germline"	"yes"	""	"0"	""	""	"g.41239138_41239153dup"	""	"pathogenic"	""
"0000629253"	"0"	"90"	"3"	"41280629"	"41280644"	"dup"	"0"	"03382"	"CTNNB1_000087"	"g.41280629_41280644dup"	""	"{PMID:Panagiotouo 2017:28575650 }"	""	"2142_2157dupTAGCTATCGTTCTTTT"	""	"Unknown"	"yes"	""	"0"	""	""	"g.41239138_41239153dup"	""	"pathogenic"	""
"0000629254"	"11"	"90"	"3"	"41280629"	"41280644"	"dup"	"0"	"03382"	"CTNNB1_000087"	"g.41280629_41280644dup"	""	"{PMID:Panagiotou 2017:28575650 }"	""	"2142_2157dupTAGCTATCGTTCTTTT"	""	"Germline"	"yes"	""	"0"	""	""	"g.41239138_41239153dup"	""	"pathogenic"	""
"0000629255"	"0"	"90"	"3"	"41275789"	"41275789"	"subst"	"0"	"03382"	"CTNNB1_000084"	"g.41275789G>A"	""	"{PMID: Kuechler 2015: 25326669 }"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.41234298G>A"	""	"pathogenic"	""
"0000629256"	"0"	"90"	"3"	"41267171"	"41267171"	"subst"	"0"	"03382"	"CTNNB1_000079"	"g.41267171T>A"	""	"{PMID:Kuechler 2015: 25326669 }"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.41225680T>A"	""	"pathogenic"	""
"0000629257"	"0"	"90"	"3"	"41266626"	"41266627"	"ins"	"0"	"03382"	"CTNNB1_000078"	"g.41266626_41266627insG"	""	"{PMID:Kuechler 2015: 25326669 }"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.41225135_41225136insG"	""	"pathogenic"	""
"0000629361"	"0"	"90"	"3"	"41278162"	"41278165"	"dup"	"0"	"03382"	"CTNNB1_000086"	"g.41278162_41278165dup"	""	"{PMID:Kuechler 2015: 25326669 }"	""	"2038_2041dupAGCT"	""	"De novo"	"yes"	""	"0"	""	""	"g.41236671_41236674dup"	""	"pathogenic"	""
"0000629362"	"0"	"90"	"3"	"41278162"	"41278165"	"dup"	"0"	"03382"	"CTNNB1_000086"	"g.41278162_41278165dup"	""	"{PMID:Kuechler 2015: 25326669 }"	""	"2038_2041dupAGCT"	""	"De novo"	"yes"	""	"0"	""	""	"g.41236671_41236674dup"	""	"pathogenic"	""
"0000629363"	"0"	"90"	"3"	"41275087"	"41275088"	"ins"	"0"	"03382"	"CTNNB1_000082"	"g.41275087_41275088insGTGAC"	""	"{PMID:Kuechler 2015: 25326669 }"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.41233596_41233597insGTGAC"	""	"pathogenic"	""
"0000629364"	"0"	"90"	"3"	"41275254"	"41275254"	"subst"	"0"	"03382"	"CTNNB1_000041"	"g.41275254C>T"	""	"{PMID:Kuechler 2015: 25326669 }"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.41233763C>T"	""	"pathogenic"	""
"0000629365"	"0"	"90"	"3"	"41266486"	"41266486"	"subst"	"0"	"03382"	"CTNNB1_000017"	"g.41266486C>T"	""	"{PMID:Kuechler 2015: 25326669 }"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.41224995C>T"	""	"pathogenic"	""
"0000629366"	"0"	"90"	"3"	"41274913"	"41274913"	"subst"	"0"	"03382"	"CTNNB1_000081"	"g.41274913T>C"	""	"{PMID:Kuechler 2015: 25326669 }"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.41233422T>C"	""	"pathogenic"	""
"0000629367"	"0"	"90"	"3"	"41277961"	"41277962"	"del"	"0"	"03382"	"CTNNB1_000006"	"g.41277961_41277962del"	""	"{PMID:Kuechler 2015: 25326669}, {PMID:Monroe 2016:26845106}"	""	"1925_1926delAG"	""	"De novo"	"yes"	""	"0"	""	""	"g.41236470_41236471del"	""	"pathogenic"	""
"0000629368"	"0"	"90"	"3"	"41266102"	"41266103"	"del"	"0"	"03382"	"CTNNB1_000077"	"g.41266102_41266103del"	""	"{PMID:Kuechler 2015: 25326669 }"	""	"99_100delTG"	""	"De novo"	"yes"	""	"0"	""	""	"g.41224611_41224612del"	""	"pathogenic"	""
"0000629369"	"0"	"90"	"3"	"41268844"	"41268844"	"subst"	"0"	"03382"	"CTNNB1_000080"	"g.41268844G>C"	""	"{PMID:Kuechler 2015:25326669}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.41227353G>C"	""	"pathogenic"	""
"0000629370"	"0"	"90"	"3"	"41275106"	"41275109"	"del"	"0"	"03382"	"CTNNB1_000083"	"g.41275106_41275109del"	""	"{PMID:Kuechler 2015: 25326669 }"	""	"1272_1275delTTCT"	""	"De novo"	"yes"	""	"0"	""	""	"g.41233615_41233618del"	""	"pathogenic"	""
"0000654954"	"0"	"90"	"3"	"41267064"	"41267064"	"subst"	"0"	"02327"	"CTNNB1_000088"	"g.41267064G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.41225573G>T"	""	"pathogenic"	""
"0000667404"	"0"	"90"	"3"	"41275328"	"41275328"	"dup"	"0"	"00006"	"CTNNB1_000089"	"g.41275328dup"	""	"{PMID:Percy 2018:29682453}"	""	"1494dupA"	""	"De novo"	""	""	"0"	""	""	"g.41233837dup"	""	"pathogenic (dominant)"	""
"0000667505"	"0"	"70"	"3"	"41277254"	"41277254"	"subst"	"0"	"00006"	"CTNNB1_000090"	"g.41277254G>A"	""	"{PMID:Helbig 2016:26795593}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.41235763G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000676981"	"0"	"50"	"3"	"41266856"	"41266856"	"subst"	"0"	"01943"	"CTNNB1_000091"	"g.41266856A>C"	""	""	""	"CTNNB1(NM_001904.3):c.527A>C (p.H176P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000676982"	"0"	"90"	"3"	"41275190"	"41275191"	"ins"	"0"	"02327"	"CTNNB1_000093"	"g.41275190_41275191insA"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000682726"	"0"	"70"	"3"	"41278201"	"41278201"	"subst"	"0"	"03753"	"CTNNB1_000094"	"g.41278201G>A"	"0.045"	"{PMID:Mendonca 2021:34478740}"	""	""	""	"Somatic"	""	""	""	""	""	""	""	"pathogenic"	"ACMG"
"0000682753"	"0"	"70"	"3"	"41274898"	"41274898"	"subst"	"0"	"03753"	"CTNNB1_000092"	"g.41274898G>A"	"0.043"	"{PMID:Mendonca 2021:34478740}"	""	""	""	"Somatic"	""	""	""	""	""	""	""	"pathogenic"	"ACMG"
"0000683303"	"0"	"70"	"3"	"41267251"	"41267251"	"del"	"0"	"00006"	"CTNNB1_000095"	"g.41267251del"	""	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.41225760del"	""	"likely pathogenic (dominant)"	""
"0000683304"	"0"	"70"	"3"	"41275708"	"41275708"	"subst"	"0"	"00006"	"CTNNB1_000002"	"g.41275708C>T"	""	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.41234217C>T"	""	"likely pathogenic (dominant)"	""
"0000719431"	"0"	"90"	"3"	"41266886"	"41266887"	"del"	"0"	"02329"	"CTNNB1_000023"	"g.41266886_41266887del"	""	""	""	"CTNNB1(NM_001904.4):c.557_558delAC (p.H186Rfs*21)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000719432"	"0"	"50"	"3"	"41274890"	"41274890"	"subst"	"0"	"02329"	"CTNNB1_000027"	"g.41274890C>G"	""	""	""	"CTNNB1(NM_001904.4):c.1140C>G (p.N380K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719433"	"0"	"90"	"3"	"41274934"	"41274935"	"del"	"0"	"01943"	"CTNNB1_000096"	"g.41274934_41274935del"	""	""	""	"CTNNB1(NM_001904.3):c.1184_1185delAG (p.Q395Rfs*18)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000719434"	"0"	"90"	"3"	"41275648"	"41275648"	"subst"	"0"	"02329"	"CTNNB1_000052"	"g.41275648C>T"	""	""	""	"CTNNB1(NM_001904.4):c.1543C>T (p.R515*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000785860"	"0"	"90"	"3"	"41275239"	"41275240"	"ins"	"0"	"01864"	"CTNNB1_000097"	"g.41275239_41275240insTG"	""	""	""	""	""	"De novo"	"yes"	""	""	""	""	""	""	"pathogenic"	"ACMG"
"0000787251"	"0"	"50"	"3"	"41277221"	"41277221"	"subst"	"0"	"00006"	"CTNNB1_000098"	"g.41277221G>C"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.41235730G>C"	""	"VUS"	""
"0000794884"	"0"	"90"	"3"	"41274934"	"41274934"	"dup"	"0"	"01164"	"CTNNB1_000099"	"g.41274934dup"	""	""	""	""	"ACMG: PVS1, PS2, PM2_SUP; de novo in index and affected sister"	"De novo"	"yes"	""	"0"	""	""	"g.41233443dup"	""	"pathogenic (dominant)"	"ACMG"
"0000801225"	"0"	"90"	"3"	"41266611"	"41266611"	"del"	"0"	"01943"	"CTNNB1_000100"	"g.41266611del"	""	""	""	"CTNNB1(NM_001904.3):c.408delT (p.V137*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000801226"	"0"	"50"	"3"	"41275201"	"41275201"	"subst"	"0"	"02327"	"CTNNB1_000101"	"g.41275201A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000801227"	"0"	"90"	"3"	"41278105"	"41278105"	"del"	"0"	"01943"	"CTNNB1_000102"	"g.41278105del"	""	""	""	"CTNNB1(NM_001904.3):c.1981delC (p.R661Efs*18)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000814370"	"3"	"50"	"3"	"41267300"	"41267300"	"subst"	"0"	"00000"	"CTNNB1_000103"	"g.41267300C>G"	""	"{PMID:Lenassi 2020:31848469}"	""	"CTNNB1 c.884C>G p.(Ala295Gly) hom"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.41225809C>G"	""	"VUS"	"ACMG"
"0000815001"	"0"	"90"	"3"	"41268760"	"41268760"	"dup"	"0"	"00006"	"CTNNB1_000004"	"g.41268760dup"	""	"{PMID:Prasad 2016:26502894}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.41227269dup"	""	"pathogenic (dominant)"	""
"0000847674"	"0"	"70"	"3"	"41266085"	"41266085"	"subst"	"0"	"03779"	"CTNNB1_000104"	"g.41266085C>T"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000850327"	"0"	"90"	"3"	"41268761"	"41268761"	"subst"	"0"	"02325"	"CTNNB1_000025"	"g.41268761C>G"	""	""	""	"CTNNB1(NM_001904.3):c.999C>G (p.(Tyr333Ter)), CTNNB1(NM_001904.4):c.999C>G (p.Y333*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000850328"	"0"	"50"	"3"	"41274890"	"41274890"	"subst"	"0"	"02327"	"CTNNB1_000027"	"g.41274890C>G"	""	""	""	"CTNNB1(NM_001904.4):c.1140C>G (p.N380K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000850329"	"0"	"90"	"3"	"41275738"	"41275738"	"subst"	"0"	"02329"	"CTNNB1_000106"	"g.41275738C>T"	""	""	""	"CTNNB1(NM_001904.4):c.1633C>T (p.Q545*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000859022"	"0"	"90"	"3"	"41266625"	"41266628"	"del"	"0"	"02329"	"CTNNB1_000105"	"g.41266625_41266628del"	""	""	""	"CTNNB1(NM_001904.4):c.422_425delACTA (p.N141Ifs*15)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000877649"	"0"	"70"	"3"	"41279542"	"41279546"	"dup"	"0"	"00000"	"CTNNB1_000060"	"g.41279542_41279546dup"	""	"{PMID:Dixon 2016:26967979}"	""	"CTNNB1 c.2112_2116dupAGAAC, p.P706QfsX31"	"heterozygous; mother wild type father unavailable"	"Germline"	"yes"	""	"0"	""	""	"g.41238051_41238055dup"	""	"likely pathogenic"	""
"0000897877"	"0"	"70"	"3"	"41278170"	"41278171"	"del"	"0"	"00000"	"CTNNB1_000107"	"g.41278170_41278171del"	""	"{PMID:Coussa 2020:32039639}"	""	"CTNNB1 c.2046_2047del, p.(Phe683Glnfs*9)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.41236679_41236680del"	""	"likely pathogenic (dominant)"	""
"0000898063"	"0"	"70"	"3"	"41275708"	"41275708"	"subst"	"0"	"00000"	"CTNNB1_000002"	"g.41275708C>T"	""	"{PMID:Ke 2020:33425807}"	""	"CTNNB1 c.1603C > T, p.R535X"	"heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.41234217C>T"	""	"likely pathogenic (dominant)"	""
"0000898086"	"0"	"70"	"3"	"41278086"	"41278086"	"subst"	"0"	"00000"	"CTNNB1_000113"	"g.41278086T>A"	""	"{PMID:Rossetti 2020:33350591}"	""	"CTNNB1 c.1962T>A, p.Y654X"	"heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.41236595T>A"	""	"likely pathogenic (dominant)"	""
"0000898087"	"0"	"70"	"3"	"41267192"	"41267193"	"del"	"0"	"00000"	"CTNNB1_000109"	"g.41267192_41267193del"	""	"{PMID:Rossetti 2020:33350591}"	""	"CTNNB1 c.776_777delTC, p.L259PfsX11"	"heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.41225701_41225702del"	""	"likely pathogenic (dominant)"	""
"0000898088"	"0"	"70"	"3"	"41277254"	"41277254"	"subst"	"0"	"00000"	"CTNNB1_000090"	"g.41277254G>A"	""	"{PMID:Rossetti 2020:33350591}"	""	"CTNNB1 c.1723G>A, p.G575R"	"heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.41235763G>A"	""	"likely pathogenic (dominant)"	""
"0000898089"	"0"	"70"	"3"	"41268778"	"41268787"	"delins"	"0"	"00000"	"CTNNB1_000111"	"g.41268778_41268787delinsT"	""	"{PMID:Rossetti 2020:33350591}"	""	"CTNNB1 c.1016_1025delinsT, p.T339_ R342delinsI"	"heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.41227287_41227296delinsT"	""	"likely pathogenic (dominant)"	""
"0000898090"	"0"	"70"	"3"	"41275770"	"41275770"	"dup"	"0"	"00000"	"CTNNB1_000112"	"g.41275770dup"	""	"{PMID:Rossetti 2020:33350591}"	""	"CTNNB1 c.1665dupG, p.T556fs"	"heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.41234279dup"	""	"likely pathogenic (dominant)"	""
"0000898091"	"0"	"70"	"3"	"41266217"	"41266218"	"del"	"0"	"00000"	"CTNNB1_000108"	"g.41266217_41266218del"	""	"{PMID:Rossetti 2020:33350591}"	""	"CTNNB1 c.214_215del, p.Q72fs"	"heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.41224726_41224727del"	""	"likely pathogenic (dominant)"	""
"0000898092"	"0"	"70"	"3"	"41268767"	"41268767"	"del"	"0"	"00000"	"CTNNB1_000110"	"g.41268767del"	""	"{PMID:Rossetti 2020:33350591}"	""	"CTNNB1 c.1005delA, p.K335fs"	"heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.41227276del"	""	"likely pathogenic (dominant)"	""
"0000908922"	"0"	"70"	"3"	"41266442"	"41266442"	"subst"	"0"	"00006"	"CTNNB1_000114"	"g.41266442C>A"	""	"{PMID:Bournazos 2022:34906502}"	""	""	"exon skipping, cryptic splice acceptor"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.41224951C>A"	""	"likely pathogenic (dominant)"	""
"0000911945"	"0"	"90"	"3"	"41266586"	"41266586"	"del"	"0"	"02325"	"CTNNB1_000115"	"g.41266586del"	""	""	""	"CTNNB1(NM_001904.4):c.383delC (p.P128Hfs*5)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000911946"	"0"	"50"	"3"	"41266622"	"41266622"	"subst"	"0"	"02327"	"CTNNB1_000116"	"g.41266622T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000918139"	"0"	"90"	"3"	"41266511"	"41266511"	"del"	"0"	"00006"	"CTNNB1_000117"	"g.41266511del"	""	"{PMID:He 2023:35361685}"	""	"307delT"	""	"De novo"	""	""	"0"	""	""	"g.41225020del"	""	"pathogenic (dominant)"	""
"0000918140"	"0"	"90"	"3"	"41266921"	"41266922"	"dup"	"0"	"00006"	"CTNNB1_000118"	"g.41266921_41266922dup"	""	"{PMID:He 2023:35361685}"	""	"590_591insTA"	""	"De novo"	""	""	"0"	""	""	"g.41225430_41225431dup"	""	"pathogenic (dominant)"	""
"0000918141"	"0"	"90"	"3"	"41274854"	"41274854"	"del"	"0"	"00006"	"CTNNB1_000062"	"g.41274854del"	""	"{PMID:He 2023:35361685}"	""	"1104delT"	""	"De novo"	""	""	"0"	""	""	"g.41233363del"	""	"pathogenic (dominant)"	""
"0000920725"	"0"	"70"	"3"	"41268761"	"41268761"	"subst"	"0"	"01164"	"CTNNB1_000025"	"g.41268761C>G"	""	"PMID: 28575650, 27915094, 30640974, 31785789"	""	""	"ACMG: PVS1, PS2_MOD, PS4_MOD, PM2_SUP; confirmed de novo in trio-exome"	"De novo"	"-"	""	""	""	""	""	"VCV000987152.10"	"pathogenic (dominant)"	"ACMG"
"0000921522"	"11"	"90"	"3"	"41267327"	"41267327"	"dup"	"0"	"03544"	"CTNNB1_000119"	"g.41267327dup"	""	""	""	""	"detected as mosaic in unaffected father (0.11 mosaicism in blood, 0.13 mosaicism in buccal swab)"	"Germline"	""	""	"0"	""	""	"g.41225836dup"	""	"pathogenic (dominant)"	"ACMG"
"0000923955"	"0"	"50"	"3"	"41266654"	"41266654"	"subst"	"0"	"02325"	"CTNNB1_000022"	"g.41266654C>T"	""	""	""	"CTNNB1(NM_001904.3):c.451C>T (p.(Arg151Cys)), CTNNB1(NM_001904.4):c.451C>T (p.R151C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000927778"	"0"	"70"	"3"	"41266443"	"41266443"	"subst"	"0"	"01164"	"CTNNB1_000120"	"g.41266443A>G"	""	""	""	""	"ACMG: PVS1, PS4_SUP, PM2_SUP"	"Germline"	"?"	""	"0"	""	""	"g.41224952A>G"	"VCV001465285.3"	"likely pathogenic (dominant)"	"ACMG"
"0000933206"	"0"	"70"	"3"	"41266059"	"41266060"	"dup"	"0"	"01164"	"CTNNB1_000121"	"g.41266059_41266060dup"	""	""	""	""	"ACMG: PVS1, PS2_Sup, PM2_Sup; confirmed de novo in trio-exome"	"De novo"	"-"	""	""	""	""	"g.41224568_41224569dup"	""	"pathogenic (dominant)"	"ACMG"
"0000939769"	"0"	"90"	"3"	"41280760"	"41280760"	"del"	"0"	"00006"	"CTNNB1_000122"	"g.41280760del"	""	"{PMID:Thevenon 2016:26757139}, {PMID:Nambot 2018:29095811}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.41239269del"	""	"likely pathogenic (dominant)"	""
"0000948170"	"0"	"90"	"3"	"41267353"	"41267353"	"subst"	"0"	"02325"	"CTNNB1_000123"	"g.41267353G>A"	""	""	""	"CTNNB1(NM_001904.4):c.936+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000948171"	"0"	"50"	"3"	"41275679"	"41275679"	"subst"	"0"	"02325"	"CTNNB1_000124"	"g.41275679C>T"	""	""	""	"CTNNB1(NM_001904.4):c.1574C>T (p.A525V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000948172"	"0"	"50"	"3"	"41280636"	"41280636"	"subst"	"4.07004E-6"	"02325"	"CTNNB1_000125"	"g.41280636C>T"	""	""	""	"CTNNB1(NM_001904.3):c.2149C>T (p.(Arg717Cys)), CTNNB1(NM_001904.4):c.2149C>T (p.R717C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000962772"	"0"	"70"	"3"	"41275110"	"41275110"	"subst"	"0"	"02329"	"CTNNB1_000126"	"g.41275110A>T"	""	""	""	"CTNNB1(NM_001904.4):c.1276A>T (p.N426Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000975813"	"0"	"30"	"3"	"41266438"	"41266438"	"subst"	"0"	"01804"	"CTNNB1_000127"	"g.41266438T>G"	""	""	""	"CTNNB1(NM_001904.4):c.242-7T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000985294"	"0"	"70"	"3"	"41274830"	"41274830"	"subst"	"0"	"03544"	"CTNNB1_000128"	"g.41274830A>G"	""	""	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.41233339A>G"	"{CV:3895539}"	"likely pathogenic"	"ACMG"
"0000993656"	"0"	"50"	"3"	"41266573"	"41266573"	"subst"	"1.22024E-5"	"02325"	"CTNNB1_000129"	"g.41266573C>T"	""	""	""	"CTNNB1(NM_001904.4):c.370C>T (p.R124C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000993657"	"0"	"50"	"3"	"41267068"	"41267068"	"subst"	"0"	"01804"	"CTNNB1_000130"	"g.41267068G>A"	""	""	""	"CTNNB1(NM_001904.3):c.734+5G>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000993658"	"0"	"50"	"3"	"41278106"	"41278106"	"subst"	"0"	"01804"	"CTNNB1_000131"	"g.41278106G>A"	""	""	""	"CTNNB1(NM_001904.3):c.1982G>A (p.(Arg661Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000993659"	"0"	"50"	"3"	"41279532"	"41279532"	"subst"	"0"	"01804"	"CTNNB1_000132"	"g.41279532G>T"	""	""	""	"CTNNB1(NM_001904.3):c.2102G>T (p.(Gly701Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000993660"	"0"	"50"	"3"	"41279534"	"41279534"	"subst"	"4.06266E-6"	"01804"	"CTNNB1_000133"	"g.41279534G>A"	""	""	""	"CTNNB1(NM_001904.3):c.2104G>A (p.(Ala702Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000993661"	"0"	"70"	"3"	"41279537"	"41279537"	"subst"	"0"	"01804"	"CTNNB1_000134"	"g.41279537C>T"	""	""	""	"CTNNB1(NM_001904.3):c.2107C>T (p.(Gln703*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000993662"	"0"	"50"	"3"	"41280636"	"41280636"	"subst"	"4.07004E-6"	"01804"	"CTNNB1_000125"	"g.41280636C>T"	""	""	""	"CTNNB1(NM_001904.3):c.2149C>T (p.(Arg717Cys)), CTNNB1(NM_001904.4):c.2149C>T (p.R717C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001024822"	"0"	"50"	"3"	"41266061"	"41266061"	"subst"	"0"	"02325"	"CTNNB1_000135"	"g.41266061G>A"	""	""	""	"CTNNB1(NM_001904.4):c.58G>A (p.A20T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001024823"	"0"	"50"	"3"	"41267273"	"41267273"	"subst"	"0"	"02327"	"CTNNB1_000136"	"g.41267273T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001030851"	"0"	"70"	"3"	"41277893"	"41277900"	"del"	"0"	"03544"	"CTNNB1_000137"	"g.41277893_41277900del"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.41236402_41236409del"	""	"likely pathogenic"	"ACMG"
"0001033957"	"0"	"50"	"3"	"41274877"	"41274877"	"subst"	"0"	"01804"	"CTNNB1_000138"	"g.41274877G>A"	""	""	""	"CTNNB1(NM_001904.4):c.1127G>A (p.(Arg376His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001033958"	"0"	"50"	"3"	"41275753"	"41275753"	"subst"	"0"	"01804"	"CTNNB1_000139"	"g.41275753C>T"	""	""	""	"CTNNB1(NM_001904.4):c.1648C>T (p.(Arg550Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## 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 CTNNB1
## Count = 170
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/Exon}}"
"0000079352"	"00024208"	"00"	"1981"	"0"	"1981"	"0"	"c.1981C>T"	"r.(?)"	"p.(Arg661*)"	""
"0000079371"	"00024208"	"90"	"1041"	"0"	"1044"	"0"	"c.1041_1044del"	"r.(?)"	"p.(Val349Alafs*9)"	""
"0000079377"	"00024208"	"90"	"998"	"0"	"998"	"0"	"c.998dup"	"r.(?)"	"p.(Tyr333*)"	"7"
"0000079391"	"00024208"	"90"	"1603"	"0"	"1603"	"0"	"c.1603C>T"	"r.(?)"	"p.(Arg535*)"	"10"
"0000079630"	"00024208"	"00"	"1685"	"0"	"1690"	"0"	"c.1685_1690delinsA"	"r.(?)"	"p.(Glu562Aspfs*8)"	""
"0000130115"	"00024208"	"70"	"1925"	"0"	"1926"	"0"	"c.1925_1926del"	"r.(?)"	"p.(Glu642Valfs*5)"	"12"
"0000130204"	"00024208"	"00"	"1981"	"0"	"1981"	"0"	"c.1981C>T"	"r.(?)"	"p.(Arg661*)"	""
"0000148830"	"00024208"	"00"	"40"	"0"	"40"	"0"	"c.40A>G"	"r.(?)"	"p.(Met14Val)"	""
"0000148831"	"00024208"	"00"	"226"	"0"	"226"	"0"	"c.226C>G"	"r.(?)"	"p.(Gln76Glu)"	""
"0000148832"	"00024208"	"00"	"605"	"0"	"605"	"0"	"c.605T>C"	"r.(?)"	"p.(Met202Thr)"	""
"0000148833"	"00024208"	"00"	"860"	"0"	"860"	"0"	"c.860A>G"	"r.(?)"	"p.(Asn287Ser)"	""
"0000148834"	"00024208"	"00"	"1117"	"0"	"1117"	"0"	"c.1117C>G"	"r.(?)"	"p.(Pro373Ala)"	""
"0000148835"	"00024208"	"00"	"1729"	"0"	"1729"	"0"	"c.1729C>G"	"r.(?)"	"p.(Leu577Val)"	""
"0000148836"	"00024208"	"00"	"2042"	"0"	"2042"	"0"	"c.2042C>T"	"r.(?)"	"p.(Ser681Phe)"	""
"0000148837"	"00024208"	"00"	"2129"	"0"	"2129"	"0"	"c.2129G>A"	"r.(?)"	"p.(Arg710His)"	""
"0000256440"	"00024208"	"50"	"1320"	"0"	"1320"	"0"	"c.1320A>G"	"r.(?)"	"p.(Gln440=)"	""
"0000267191"	"00024208"	"30"	"1671"	"0"	"1671"	"0"	"c.1671G>A"	"r.(?)"	"p.(Gln557=)"	""
"0000270638"	"00024208"	"90"	"1081"	"1"	"1081"	"1"	"c.1081+1G>C"	"r.spl?"	"p.?"	""
"0000270639"	"00024208"	"70"	"110"	"0"	"110"	"0"	"c.110C>A"	"r.(?)"	"p.(Ser37Tyr)"	""
"0000274582"	"00024208"	"90"	"1857"	"0"	"1858"	"0"	"c.1857_1858del"	"r.(?)"	"p.(Cys619Ter)"	""
"0000274583"	"00024208"	"50"	"2231"	"0"	"2231"	"0"	"c.2231C>G"	"r.(?)"	"p.(Pro744Arg)"	""
"0000329334"	"00024208"	"50"	"336"	"0"	"337"	"0"	"c.336_337insAA"	"r.(?)"	"p.(Gln113AsnfsTer21)"	""
"0000329335"	"00024208"	"50"	"338"	"0"	"338"	"0"	"c.338A>T"	"r.(?)"	"p.(Gln113Leu)"	""
"0000329336"	"00024208"	"50"	"341"	"0"	"341"	"0"	"c.341T>G"	"r.(?)"	"p.(Phe114Cys)"	""
"0000329337"	"00024208"	"50"	"347"	"0"	"370"	"0"	"c.347_370del"	"r.(?)"	"p.(Ala116_Arg124delinsGly)"	""
"0000329338"	"00024208"	"50"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Arg151Cys)"	""
"0000329339"	"00024208"	"50"	"999"	"0"	"999"	"0"	"c.999C>G"	"r.(?)"	"p.(Tyr333Ter)"	""
"0000329340"	"00024208"	"50"	"2018"	"0"	"2018"	"0"	"c.2018G>A"	"r.(?)"	"p.(Arg673Gln)"	""
"0000329341"	"00024208"	"50"	"2059"	"0"	"2059"	"0"	"c.2059C>G"	"r.(?)"	"p.(Pro687Ala)"	""
"0000342959"	"00024208"	"90"	"1420"	"0"	"1420"	"0"	"c.1420C>T"	"r.(?)"	"p.(Arg474Ter)"	""
"0000343469"	"00024208"	"90"	"268"	"0"	"268"	"0"	"c.268C>T"	"r.(?)"	"p.(Arg90Ter)"	""
"0000343507"	"00024208"	"90"	"283"	"0"	"283"	"0"	"c.283C>T"	"r.(?)"	"p.(Arg95Ter)"	""
"0000344643"	"00024208"	"90"	"607"	"0"	"607"	"0"	"c.607C>T"	"r.(?)"	"p.(Gln203Ter)"	""
"0000344799"	"00024208"	"70"	"1124"	"0"	"1125"	"0"	"c.1124_1125insCCTGAACAAG"	"r.(?)"	"p.(Gln375HisfsTer23)"	""
"0000349423"	"00024208"	"50"	"893"	"0"	"893"	"0"	"c.893C>G"	"r.(?)"	"p.(Thr298Arg)"	""
"0000407992"	"00024208"	"70"	"1272"	"0"	"1275"	"0"	"c.1272_1275del"	"r.(?)"	"p.(Ser425Thrfs*11)"	""
"0000438739"	"00024208"	"90"	"998"	"0"	"998"	"0"	"c.998dup"	"r.(?)"	"p.Tyr333*"	""
"0000438967"	"00024208"	"90"	"1041"	"0"	"1044"	"0"	"c.1041_1044del"	"r.(?)"	"p.(Val349Alafs*9)"	""
"0000455206"	"00024208"	"90"	"274"	"0"	"274"	"0"	"c.274C>T"	"r.(?)"	"p.(Gln92*)"	""
"0000519800"	"00024208"	"90"	"268"	"0"	"268"	"0"	"c.268C>T"	"r.(?)"	"p.(Arg90Ter)"	""
"0000519801"	"00024208"	"50"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	""
"0000519802"	"00024208"	"30"	"496"	"-7"	"496"	"-7"	"c.496-7A>T"	"r.(=)"	"p.(=)"	""
"0000519803"	"00024208"	"50"	"521"	"0"	"521"	"0"	"c.521T>C"	"r.(?)"	"p.(Met174Thr)"	""
"0000519804"	"00024208"	"30"	"633"	"0"	"633"	"0"	"c.633T>C"	"r.(?)"	"p.(Ala211=)"	""
"0000519805"	"00024208"	"30"	"642"	"0"	"642"	"0"	"c.642C>G"	"r.(?)"	"p.(Thr214=)"	""
"0000519806"	"00024208"	"70"	"659"	"0"	"659"	"0"	"c.659del"	"r.(?)"	"p.(Asn220ThrfsTer22)"	""
"0000519807"	"00024208"	"30"	"860"	"0"	"860"	"0"	"c.860A>G"	"r.(?)"	"p.(Asn287Ser)"	""
"0000519808"	"00024208"	"30"	"860"	"0"	"860"	"0"	"c.860A>G"	"r.(?)"	"p.(Asn287Ser)"	""
"0000519809"	"00024208"	"90"	"998"	"0"	"998"	"0"	"c.998dup"	"r.(?)"	"p.(Tyr333Ter)"	""
"0000519810"	"00024208"	"50"	"1417"	"0"	"1417"	"0"	"c.1417A>C"	"r.(?)"	"p.(Ser473Arg)"	""
"0000519812"	"00024208"	"90"	"1690"	"0"	"1690"	"0"	"c.1690dup"	"r.(?)"	"p.(Val564GlyfsTer8)"	""
"0000519814"	"00024208"	"90"	"1982"	"0"	"1982"	"0"	"c.1982del"	"r.(?)"	"p.(Arg661GlnfsTer18)"	""
"0000519816"	"00024208"	"30"	"2320"	"0"	"2320"	"0"	"c.2320C>T"	"r.(?)"	"p.(Leu774=)"	""
"0000579038"	"00024208"	"77"	"2142"	"0"	"2157"	"0"	"c.2142_2157dup"	"r.(?)"	"p.(His720*)"	"15"
"0000579039"	"00024208"	"77"	"2128"	"0"	"2128"	"0"	"c.2128C>T"	"r.(?)"	"p.(Arg710Cys)"	"14"
"0000579040"	"00024208"	"99"	"2112"	"0"	"2116"	"0"	"c.2112_2116dup"	"r.(?)"	"p.(Pro706Glnfs*31)"	"14"
"0000579817"	"00024208"	"99"	"999"	"0"	"999"	"0"	"c.999del"	"r.(?)"	"p.(Tyr333*)"	""
"0000579818"	"00024208"	"90"	"1104"	"0"	"1104"	"0"	"c.1104del"	"r.(?)"	"p.(His369Thrfs*2)"	""
"0000579819"	"00024208"	"90"	"1104"	"0"	"1104"	"0"	"c.1104del"	"r.(?)"	"p.(His369Thrfs*2)"	""
"0000579820"	"00024208"	"90"	"1867"	"0"	"1867"	"0"	"c.1867C>T"	"r.(?)"	"p.(Gln623*)"	""
"0000593679"	"00024208"	"90"	"734"	"1"	"734"	"1"	"c.734+1G>A"	"r.spl"	"p.?"	""
"0000593680"	"00024208"	"90"	"734"	"1"	"734"	"1"	"c.734+1G>A"	"r.spl"	"p.?"	""
"0000593681"	"00024208"	"90"	"1603"	"0"	"1603"	"0"	"c.1603C>T"	"r.(?)"	"p.(Arg535*)"	""
"0000597036"	"00024208"	"90"	"1738"	"0"	"1742"	"0"	"c.1738_1742delinsACA"	"r.(?)"	"p.(Leu580Thrfs*28)"	""
"0000597077"	"00024208"	"90"	"1801"	"0"	"1801"	"0"	"c.1801C>T"	"r.(?)"	"p.(Gln601*)"	""
"0000597078"	"00024208"	"90"	"1603"	"0"	"1603"	"0"	"c.1603C>T"	"r.(?)"	"p.(Arg535*)"	""
"0000597079"	"00024208"	"90"	"1981"	"0"	"1981"	"0"	"c.1981C>T"	"r.(?)"	"p.(Arg661*)"	""
"0000597080"	"00024208"	"90"	"1603"	"0"	"1603"	"0"	"c.1603C>T"	"r.(?)"	"p.(Arg535*)"	""
"0000597081"	"00024208"	"90"	"1041"	"0"	"1044"	"0"	"c.1041_1044del"	"r.(?)"	"p.(Val349Alafs*9)"	""
"0000597082"	"00024208"	"90"	"999"	"0"	"999"	"0"	"c.999C>G"	"r.(?)"	"p.(Tyr333*)"	""
"0000597083"	"00024208"	"90"	"1420"	"0"	"1420"	"0"	"c.1420C>T"	"r.(?)"	"p.(Arg474*)"	""
"0000597084"	"00024208"	"90"	"802"	"0"	"809"	"0"	"c.802_809del"	"r.(?)"	"p.(Gly268Asnfs*22)"	""
"0000597085"	"00024208"	"90"	"1612"	"0"	"1612"	"0"	"c.1612C>T"	"r.(?)"	"p.(Gln538*)"	""
"0000597086"	"00024208"	"90"	"998"	"0"	"998"	"0"	"c.998dup"	"r.(?)"	"p.(Tyr333*)"	""
"0000597087"	"00024208"	"90"	"1672"	"0"	"1672"	"0"	"c.1672C>T"	"r.(?)"	"p.(Gln558*)"	""
"0000597088"	"00024208"	"90"	"2112"	"0"	"2116"	"0"	"c.2112_2116dup"	"r.(?)"	"p.(Pro706Glnfs*31)"	""
"0000597092"	"00024208"	"90"	"705"	"0"	"705"	"0"	"c.705dup"	"r.(?)"	"p.(Gly236Argfs*35)"	""
"0000597098"	"00024208"	"90"	"1923"	"0"	"1923"	"0"	"c.1923dup"	"r.(?)"	"p.(Glu642Argfs*6)"	""
"0000597266"	"00024208"	"90"	"110"	"0"	"110"	"0"	"c.110C>A"	"r.(?)"	"p.(Ser37Tyr)"	"3"
"0000604240"	"00024208"	"90"	"1543"	"0"	"1543"	"0"	"c.1543C>T"	"r.(?)"	"p.(Arg515*)"	""
"0000608713"	"00024208"	"50"	"1694"	"0"	"1694"	"0"	"c.1694G>T"	"r.(?)"	"p.(Arg565Leu)"	""
"0000608714"	"00024208"	"50"	"1786"	"0"	"1786"	"0"	"c.1786A>G"	"r.(?)"	"p.(Ile596Val)"	""
"0000628575"	"00024208"	"90"	"1272"	"0"	"1275"	"0"	"c.1272_1275del"	"r.272_1275del"	"p.Ser425Thrfs*11"	""
"0000628576"	"00024208"	"90"	"925"	"0"	"925"	"0"	"c.925C>T"	"r.925c>u"	"p.Gln309*"	""
"0000628577"	"00024208"	"90"	"1420"	"0"	"1420"	"0"	"c.1420C>T"	"r.(?)"	"p.(Arg474*)"	""
"0000628578"	"00024208"	"90"	"1543"	"0"	"1543"	"0"	"c.1543C>T"	"r.(?)"	"p.(Arg515*)"	""
"0000628579"	"00024208"	"90"	"1434"	"0"	"1435"	"0"	"c.1434_1435insC"	"r.(?)"	"p.(Glu479Argfs*18)"	""
"0000628581"	"00024208"	"90"	"2128"	"0"	"2128"	"0"	"c.2128C>T"	"r.(?)"	"p.(Arg710Cys)"	""
"0000629252"	"00024208"	"90"	"2142"	"0"	"2157"	"0"	"c.2142_2157dup"	"r.(?)"	"p.(His720*)"	""
"0000629253"	"00024208"	"90"	"2142"	"0"	"2157"	"0"	"c.2142_2157dup"	"r.(?)"	"p.(His720*)"	""
"0000629254"	"00024208"	"90"	"2142"	"0"	"2157"	"0"	"c.2142_2157dup"	"r.(?)"	"p.(His720*)"	""
"0000629255"	"00024208"	"90"	"1683"	"1"	"1683"	"1"	"c.1683+1G>A"	"r.spl?"	"p.?"	""
"0000629256"	"00024208"	"90"	"755"	"0"	"755"	"0"	"c.755T>A"	"r.(?)"	"p.(Leu252*)"	"6"
"0000629257"	"00024208"	"90"	"423"	"0"	"424"	"0"	"c.423_424insG"	"r.(?)"	"p.(Tyr142Valfs*4)"	""
"0000629361"	"00024208"	"90"	"2038"	"0"	"2041"	"0"	"c.2038_2041dup"	"r.(?)"	"p.(Ser681*)"	""
"0000629362"	"00024208"	"90"	"2038"	"0"	"2041"	"0"	"c.2038_2041dup"	"r.(?)"	"p.(Ser681*)"	""
"0000629363"	"00024208"	"90"	"1253"	"0"	"1254"	"0"	"c.1253_1254insGTGAC"	"r.(?)"	"p.(Cys419*)"	""
"0000629364"	"00024208"	"90"	"1420"	"0"	"1420"	"0"	"c.1420C>T"	"r.(?)"	"p.(Arg474*)"	""
"0000629365"	"00024208"	"90"	"283"	"0"	"283"	"0"	"c.283C>T"	"r.(?)"	"p.(Arg95*)"	""
"0000629366"	"00024208"	"90"	"1163"	"0"	"1163"	"0"	"c.1163T>C"	"r.(?)"	"p.(Leu388Pro)"	""
"0000629367"	"00024208"	"90"	"1925"	"0"	"1926"	"0"	"c.1925_1926del"	"r.(?)"	"p.(Glu642Valfs*5)"	""
"0000629368"	"00024208"	"90"	"99"	"0"	"100"	"0"	"c.99_100del"	"r.(?)"	"p.(Gly34Asnfs*15)"	""
"0000629369"	"00024208"	"90"	"1081"	"1"	"1081"	"1"	"c.1081+1G>C"	"r.spl"	"p.?"	""
"0000629370"	"00024208"	"90"	"1272"	"0"	"1275"	"0"	"c.1272_1275del"	"r.(?)"	"p.(Ser425Thrfs*11)"	""
"0000654954"	"00024208"	"90"	"734"	"1"	"734"	"1"	"c.734+1G>T"	"r.spl?"	"p.?"	""
"0000667404"	"00024208"	"90"	"1494"	"0"	"1494"	"0"	"c.1494dup"	"r.(?)"	"p.(His499Thrfs*31)"	""
"0000667505"	"00024208"	"70"	"1723"	"0"	"1723"	"0"	"c.1723G>A"	"r.(?)"	"p.(Gly575Arg)"	""
"0000676981"	"00024208"	"50"	"527"	"0"	"527"	"0"	"c.527A>C"	"r.(?)"	"p.(His176Pro)"	""
"0000676982"	"00024208"	"90"	"1356"	"0"	"1357"	"0"	"c.1356_1357insA"	"r.(?)"	"p.(Arg453ThrfsTer4)"	""
"0000682726"	"00024208"	"70"	"2076"	"1"	"2076"	"1"	"c.2076+1G>A"	"r.spl?"	"p.?"	""
"0000682753"	"00024208"	"70"	"1148"	"0"	"1148"	"0"	"c.1148G>A"	"r.(?)"	"p.(Trp383*)"	""
"0000683303"	"00024208"	"70"	"835"	"0"	"835"	"0"	"c.835del"	"r.(?)"	"p.(Leu279Cysfs*26)"	""
"0000683304"	"00024208"	"70"	"1603"	"0"	"1603"	"0"	"c.1603C>T"	"r.(?)"	"p.(Arg535*)"	""
"0000719431"	"00024208"	"90"	"557"	"0"	"558"	"0"	"c.557_558del"	"r.(?)"	"p.(His186ArgfsTer21)"	""
"0000719432"	"00024208"	"50"	"1140"	"0"	"1140"	"0"	"c.1140C>G"	"r.(?)"	"p.(Asn380Lys)"	""
"0000719433"	"00024208"	"90"	"1184"	"0"	"1185"	"0"	"c.1184_1185del"	"r.(?)"	"p.(Gln395Argfs*18)"	""
"0000719434"	"00024208"	"90"	"1543"	"0"	"1543"	"0"	"c.1543C>T"	"r.(?)"	"p.(Arg515Ter)"	""
"0000785860"	"00024208"	"90"	"1405"	"0"	"1406"	"0"	"c.1405_1406insTG"	"r.(?)"	"p.(Arg469Leufs*4)"	"9"
"0000787251"	"00024208"	"50"	"1690"	"0"	"1690"	"0"	"c.1690G>C"	"r.(?)"	"p.(Val564Leu)"	"11"
"0000794884"	"00024208"	"90"	"1184"	"0"	"1184"	"0"	"c.1184dup"	"r.(?)"	"p.(Glu396Glyfs*18)"	""
"0000801225"	"00024208"	"90"	"408"	"0"	"408"	"0"	"c.408del"	"r.(?)"	"p.(Val137*)"	""
"0000801226"	"00024208"	"50"	"1367"	"0"	"1367"	"0"	"c.1367A>G"	"r.(?)"	"p.(Asp456Gly)"	""
"0000801227"	"00024208"	"90"	"1981"	"0"	"1981"	"0"	"c.1981del"	"r.(?)"	"p.(Arg661Glufs*18)"	""
"0000814370"	"00024208"	"50"	"884"	"0"	"884"	"0"	"c.884C>G"	"r.(?)"	"p.(Ala295Gly)"	""
"0000815001"	"00024208"	"90"	"998"	"0"	"998"	"0"	"c.998dup"	"r.(?)"	"p.(Tyr333Ter)"	""
"0000847674"	"00024208"	"70"	"82"	"0"	"82"	"0"	"c.82C>T"	"r.(?)"	"p.(Gln28Ter)"	""
"0000850327"	"00024208"	"90"	"999"	"0"	"999"	"0"	"c.999C>G"	"r.(?)"	"p.(Tyr333Ter)"	""
"0000850328"	"00024208"	"50"	"1140"	"0"	"1140"	"0"	"c.1140C>G"	"r.(?)"	"p.(Asn380Lys)"	""
"0000850329"	"00024208"	"90"	"1633"	"0"	"1633"	"0"	"c.1633C>T"	"r.(?)"	"p.(Gln545*)"	""
"0000859022"	"00024208"	"90"	"422"	"0"	"425"	"0"	"c.422_425del"	"r.(?)"	"p.(Asn141Ilefs*15)"	""
"0000877649"	"00024208"	"70"	"2112"	"0"	"2116"	"0"	"c.2112_2116dup"	"r.(?)"	"p.(Pro706Glnfs*31)"	""
"0000897877"	"00024208"	"70"	"2046"	"0"	"2047"	"0"	"c.2046_2047del"	"r.(?)"	"p.(Phe683Glnfs*9)"	""
"0000898063"	"00024208"	"70"	"1603"	"0"	"1603"	"0"	"c.1603C>T"	"r.(?)"	"p.(Arg535*)"	""
"0000898086"	"00024208"	"70"	"1962"	"0"	"1962"	"0"	"c.1962T>A"	"r.(?)"	"p.(Tyr654*)"	""
"0000898087"	"00024208"	"70"	"776"	"0"	"777"	"0"	"c.776_777delTC"	"r.(?)"	"p.(Leu259ProfsTer*)"	""
"0000898088"	"00024208"	"70"	"1723"	"0"	"1723"	"0"	"c.1723G>A"	"r.(?)"	"p.(Gly575Arg)"	""
"0000898089"	"00024208"	"70"	"1016"	"0"	"1025"	"0"	"c.1016_1025delinsT"	"r.(?)"	"p.(Thr339_Arg342delinsIle)"	""
"0000898090"	"00024208"	"70"	"1665"	"0"	"1665"	"0"	"c.1665dupG"	"r.(?)"	"p.(Thr556Aspfs*16)"	""
"0000898091"	"00024208"	"70"	"214"	"0"	"215"	"0"	"c.214_215del"	"r.(?)"	"p.(Gln72Valfs*9)"	""
"0000898092"	"00024208"	"70"	"1005"	"0"	"1005"	"0"	"c.1005delA"	"r.(?)"	"p.(Lys335Asnfs*10)"	""
"0000908922"	"00024208"	"70"	"242"	"-3"	"242"	"-3"	"c.242-3C>A"	"r.[242_495del,244_390del]"	"p.[Asp81Glyfs*4,Ile82Alafs*10]"	""
"0000911945"	"00024208"	"90"	"383"	"0"	"383"	"0"	"c.383del"	"r.(?)"	"p.(Pro128Hisfs*5)"	""
"0000911946"	"00024208"	"50"	"419"	"0"	"419"	"0"	"c.419T>A"	"r.(?)"	"p.(Ile140Asn)"	""
"0000918139"	"00024208"	"90"	"308"	"0"	"308"	"0"	"c.308del"	"r.(?)"	"p.(Leu103*)"	""
"0000918140"	"00024208"	"90"	"592"	"0"	"593"	"0"	"c.592_593dup"	"r.(?)"	"p.(Val199Leufs*11)"	""
"0000918141"	"00024208"	"90"	"1104"	"0"	"1104"	"0"	"c.1104del"	"r.(?)"	"p.(His369Thrfs*2)"	""
"0000920725"	"00024208"	"70"	"999"	"0"	"999"	"0"	"c.999C>G"	"r.(?)"	"p.(Tyr333*)"	""
"0000921522"	"00024208"	"90"	"911"	"0"	"911"	"0"	"c.911dup"	"r.(?)"	"p.(Leu304Phefs*15)"	""
"0000923955"	"00024208"	"50"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Arg151Cys)"	""
"0000927778"	"00024208"	"70"	"242"	"-2"	"242"	"-2"	"c.242-2A>G"	"r.spl"	"p.?"	""
"0000933206"	"00024208"	"70"	"56"	"0"	"57"	"0"	"c.56_57dup"	"r.(?)"	"p.(Ala20Lysfs*28)"	""
"0000939769"	"00024208"	"90"	"2273"	"0"	"2273"	"0"	"c.2273del"	"r.(?)"	"p.(His758LeufsTer30)"	""
"0000948170"	"00024208"	"90"	"936"	"1"	"936"	"1"	"c.936+1G>A"	"r.spl?"	"p.?"	""
"0000948171"	"00024208"	"50"	"1574"	"0"	"1574"	"0"	"c.1574C>T"	"r.(?)"	"p.(Ala525Val)"	""
"0000948172"	"00024208"	"50"	"2149"	"0"	"2149"	"0"	"c.2149C>T"	"r.(?)"	"p.(Arg717Cys)"	""
"0000962772"	"00024208"	"70"	"1276"	"0"	"1276"	"0"	"c.1276A>T"	"r.(?)"	"p.(Asn426Tyr)"	""
"0000975813"	"00024208"	"30"	"242"	"-7"	"242"	"-7"	"c.242-7T>G"	"r.(=)"	"p.(=)"	""
"0000985294"	"00024208"	"70"	"1082"	"-2"	"1082"	"-2"	"c.1082-2A>G"	"r.spl?"	"p.?"	""
"0000993656"	"00024208"	"50"	"370"	"0"	"370"	"0"	"c.370C>T"	"r.(?)"	"p.(Arg124Cys)"	""
"0000993657"	"00024208"	"50"	"734"	"5"	"734"	"5"	"c.734+5G>A"	"r.spl?"	"p.?"	""
"0000993658"	"00024208"	"50"	"1982"	"0"	"1982"	"0"	"c.1982G>A"	"r.(?)"	"p.(Arg661Gln)"	""
"0000993659"	"00024208"	"50"	"2102"	"0"	"2102"	"0"	"c.2102G>T"	"r.(?)"	"p.(Gly701Val)"	""
"0000993660"	"00024208"	"50"	"2104"	"0"	"2104"	"0"	"c.2104G>A"	"r.(?)"	"p.(Ala702Thr)"	""
"0000993661"	"00024208"	"70"	"2107"	"0"	"2107"	"0"	"c.2107C>T"	"r.(?)"	"p.(Gln703*)"	""
"0000993662"	"00024208"	"50"	"2149"	"0"	"2149"	"0"	"c.2149C>T"	"r.(?)"	"p.(Arg717Cys)"	""
"0001024822"	"00024208"	"50"	"58"	"0"	"58"	"0"	"c.58G>A"	"r.(?)"	"p.(Ala20Thr)"	""
"0001024823"	"00024208"	"50"	"857"	"0"	"857"	"0"	"c.857T>A"	"r.(?)"	"p.(Leu286His)"	""
"0001030851"	"00024208"	"70"	"1857"	"0"	"1864"	"0"	"c.1857_1864del"	"r.(?)"	"p.(Glu620Serfs*10)"	"12"
"0001033957"	"00024208"	"50"	"1127"	"0"	"1127"	"0"	"c.1127G>A"	"r.(?)"	"p.(Arg376His)"	""
"0001033958"	"00024208"	"50"	"1648"	"0"	"1648"	"0"	"c.1648C>T"	"r.(?)"	"p.(Arg550Cys)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 100
"{{screeningid}}"	"{{variantid}}"
"0000050372"	"0000079352"
"0000050391"	"0000079371"
"0000050397"	"0000079377"
"0000050411"	"0000079391"
"0000050650"	"0000079630"
"0000081029"	"0000130115"
"0000081118"	"0000130204"
"0000090701"	"0000148830"
"0000090702"	"0000148831"
"0000090703"	"0000148832"
"0000090704"	"0000148833"
"0000090705"	"0000148834"
"0000090706"	"0000148835"
"0000090707"	"0000148836"
"0000090708"	"0000148837"
"0000184027"	"0000407992"
"0000208774"	"0000438739"
"0000208931"	"0000438967"
"0000220253"	"0000455206"
"0000249957"	"0000579038"
"0000249958"	"0000579039"
"0000249959"	"0000579040"
"0000250520"	"0000579817"
"0000250521"	"0000579818"
"0000250522"	"0000579819"
"0000250523"	"0000579820"
"0000263199"	"0000593679"
"0000263200"	"0000593680"
"0000263201"	"0000593681"
"0000266376"	"0000597036"
"0000266412"	"0000597077"
"0000266413"	"0000597078"
"0000266414"	"0000597079"
"0000266415"	"0000597080"
"0000266416"	"0000597081"
"0000266417"	"0000597082"
"0000266418"	"0000597083"
"0000266419"	"0000597084"
"0000266420"	"0000597085"
"0000266421"	"0000597086"
"0000266423"	"0000597087"
"0000266424"	"0000597088"
"0000266429"	"0000597092"
"0000266434"	"0000597098"
"0000266563"	"0000597266"
"0000270481"	"0000604240"
"0000274615"	"0000628575"
"0000274616"	"0000628576"
"0000274617"	"0000628577"
"0000274618"	"0000628578"
"0000274619"	"0000628579"
"0000274621"	"0000628581"
"0000275288"	"0000629252"
"0000275289"	"0000629253"
"0000275290"	"0000629254"
"0000275291"	"0000629255"
"0000275292"	"0000629256"
"0000275293"	"0000629257"
"0000275361"	"0000629361"
"0000275362"	"0000629362"
"0000275363"	"0000629363"
"0000275365"	"0000629364"
"0000275366"	"0000629365"
"0000275367"	"0000629366"
"0000275368"	"0000629367"
"0000275369"	"0000629368"
"0000275370"	"0000629369"
"0000275371"	"0000629370"
"0000304013"	"0000667404"
"0000304107"	"0000667505"
"0000308399"	"0000682726"
"0000308400"	"0000682753"
"0000308869"	"0000683303"
"0000308870"	"0000683304"
"0000374948"	"0000785860"
"0000375900"	"0000787251"
"0000381426"	"0000794884"
"0000386690"	"0000814370"
"0000387140"	"0000815001"
"0000417905"	"0000877649"
"0000422722"	"0000897877"
"0000422822"	"0000898063"
"0000422837"	"0000898086"
"0000422838"	"0000898087"
"0000422839"	"0000898088"
"0000422840"	"0000898089"
"0000422841"	"0000898090"
"0000422842"	"0000898091"
"0000422843"	"0000898092"
"0000429449"	"0000908922"
"0000432601"	"0000918139"
"0000432602"	"0000918140"
"0000432603"	"0000918141"
"0000434832"	"0000920725"
"0000435509"	"0000921522"
"0000436676"	"0000927778"
"0000437788"	"0000933206"
"0000441832"	"0000939769"
"0000451419"	"0000985294"
"0000466868"	"0001030851"