### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ROR2)
# 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}}"
"ROR2"	"receptor tyrosine kinase-like orphan receptor 2"	"9"	"q22"	"unknown"	"NG_008089.1"	"UD_132085329011"	""	"https://www.LOVD.nl/ROR2"	""	"1"	"10257"	"4920"	"602337"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/ROR2_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2009-01-20 00:00:00"	"00006"	"2022-04-01 15:32:02"	"00000"	"2025-07-08 13:22:38"


## 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}}"
"00018047"	"ROR2"	"receptor tyrosine kinase-like orphan receptor 2"	"001"	"NM_004560.3"	""	"NP_004551.2"	""	""	""	"-199"	"3898"	"2832"	"94712444"	"94484878"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 10
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00152"	"CHD"	"heart disease, congenital (CHD)"	""	""	""	""	""	"00008"	"2013-06-19 09:27:11"	"00006"	"2015-01-23 22:14:45"
"00179"	"BDB1"	"brachydactyly, type B1 (BDB1)"	"AD"	"113000"	""	""	""	"00115"	"2013-08-28 18:20:45"	"00006"	"2020-09-29 10:08:02"
"00180"	"RRS"	"Robinow syndrome, autosomal recessive (RRS)"	"AD"	""	""	""	""	"00115"	"2013-08-28 18:26:52"	"00006"	"2021-12-10 21:51:32"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00594"	"ACH"	"achondroplasia (ACH)"	"AD"	"100800"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-10-22 16:17:58"
"05292"	"IMD"	"immunodeficiency (IMD)"	""	""	""	""	""	"00006"	"2017-06-24 18:16:32"	"00006"	"2017-10-24 17:01:05"
"05517"	"skeletal dysplasia"	"dysplasia, skeletal"	""	""	""	""	""	"00006"	"2018-11-16 16:43:21"	""	""
"05842"	"RRS1"	"Robinow, autosomal recessive syndrome, type 1 (RRS1)"	"AR"	"268310"	""	""	""	"00006"	"2020-09-29 10:02:52"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}"	"{{diseaseid}}"
"ROR2"	"00139"
"ROR2"	"00179"
"ROR2"	"00180"
"ROR2"	"05842"


## Individuals ## Do not remove or alter this header ##
## Count = 88
"{{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}}"
"00294890"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00294891"	""	""	""	"18"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00294892"	""	""	""	"88"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00294893"	""	""	""	"6"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00305255"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00305256"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00311810"	""	""	""	"1"	""	"00115"	"{PMID:van Bokhoven 2000:10932187}"	"1 family, 1 patient"	""	""	"Turkey"	""	"0"	""	""	""	""
"00311811"	""	""	""	"3"	""	"00115"	"{PMID:van Bokhoven 2000:10932187}"	"3 patients from 3 families"	""	""	"Turkey"	""	"0"	""	""	""	""
"00311812"	""	""	""	"1"	""	"00115"	"{PMID:van Bokhoven 2000:10932187}"	"1 family, 1 patient"	""	""	"Turkey"	""	"0"	""	""	""	""
"00311813"	""	""	""	"1"	""	"00115"	"{PMID:van Bokhoven 2000:10932187}"	"1 family, 1 patient"	""	""	"Turkey"	""	"0"	""	""	""	""
"00311814"	""	""	""	"1"	""	"00115"	"{PMID:Tufan 2005:15952209}"	"1 family, 1 patient"	""	""	"Turkey"	""	"0"	""	""	""	""
"00311815"	""	""	""	"1"	""	"00115"	"{PMID:Tufan 2005:15952209}"	"1 family, 1 patient"	""	""	"Germany"	""	"0"	""	""	""	""
"00311816"	""	""	""	"3"	""	"00115"	"{PMID:Afzal 2000:10932186}"	"1 family, 3 patients"	""	""	"Brazil"	""	"0"	""	""	""	""
"00311817"	""	""	""	"1"	""	"00115"	"{PMID:Afzal 2000:10932186}"	"1 family, 1 patient"	""	""	"Pakistan"	""	"0"	""	""	""	""
"00311818"	""	""	""	"14"	""	"00115"	"{PMID:Afzal 2000:10932186}"	"14 patients from 7 families"	""	""	"Oman"	""	"0"	""	""	""	""
"00311819"	""	""	""	"1"	""	"00115"	"{PMID:Afzal 2000:10932186}"	"1 family, 1 patient"	""	""	"Turkey"	""	"0"	""	""	""	""
"00311820"	""	""	""	"3"	""	"00115"	"{PMID:Oldridge 2000:10700182}"	"3 patients from 3 families"	""	""	"England"	""	"0"	""	""	""	""
"00311821"	""	""	""	"3"	""	"00115"	"{PMID:Oldridge 2000:10700182}"	"1 family, 3 patients"	""	""	"Germany"	""	"0"	""	""	""	""
"00311822"	""	""	""	"2"	""	"00115"	"{PMID:Oldridge 2000:10700182}"	"1 family, 2 patients"	""	""	"Portugal"	""	"0"	""	""	""	""
"00311823"	""	""	""	"39"	""	"00115"	"{PMID:Oldridge 2000:10700182}"	"39 patients"	""	""	""	""	"0"	""	""	""	""
"00311824"	""	""	""	"39"	""	"00115"	"{PMID:Oldridge 2000:10700182}"	"39 patients"	""	""	""	""	"0"	""	""	""	""
"00311825"	""	""	""	"39"	""	"00115"	"{PMID:Oldridge 2000:10700182}"	"39 patients"	""	""	""	""	"0"	""	""	""	""
"00311826"	""	""	""	"39"	""	"00115"	"{PMID:Oldridge 2000:10700182}"	"39 patients"	""	""	""	""	"0"	""	""	""	""
"00311827"	""	""	""	"3"	""	"00115"	"{PMID:Schwabe 2000:10986040}"	"1 family, 3 patients"	""	""	"Germany"	""	"0"	""	""	""	""
"00311828"	""	""	""	"10"	""	"00115"	"{PMID:Schwabe 2000:10986040}"	"1 family, 10 patients (1 patient is homozygous)"	""	""	"Turkey"	""	"0"	""	""	""	""
"00311829"	""	""	""	"5"	""	"00115"	"{PMID:Schwabe 2000:10986040}"	"2 families, 5 patients"	""	""	"Germany"	""	"0"	""	""	""	""
"00311830"	""	""	""	"1"	""	"00115"	"{PMID:Schwabe 2000:10986040}"	"1 family, 1 patient"	""	""	"Germany"	""	"0"	""	""	""	""
"00311831"	""	""	""	"1"	""	"00115"	"{PMID:Schwabe 2000:10986040}"	"1 family, 1 patient"	""	""	""	""	"0"	""	""	""	""
"00311832"	""	""	""	"1"	""	"00115"	"{PMID:Schwabe 2000:10986040}"	"1 family, 1 patient"	""	""	""	""	"0"	""	""	""	""
"00311833"	""	""	""	"1"	""	"00115"	"{PMID:Schwabe 2000:10986040}"	"1 family, 1 patient"	""	""	""	""	"0"	""	""	""	""
"00311834"	""	""	""	"1"	""	"00115"	"{PMID:van Bokhoven 2000:10932187}"	"1 family, 1 patient"	""	""	"Pakistan"	""	"0"	""	""	""	""
"00311835"	""	""	""	"3"	""	"00115"	"{PMID:Bacchelli 2003:12919145}"	"1 family, 3 patients; family originally described as HBND"	""	""	"Wales"	""	"0"	""	""	""	""
"00311836"	""	""	""	"1"	""	"00115"	"{PMID:Yang 2004:14767912}"	"1 family, 1 patient"	""	""	"China"	""	"0"	""	""	""	""
"00311837"	""	""	""	"1"	""	"00115"	"{PMID:Hellani 2009:19146779}"	"1 family, 1 patient"	""	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00311838"	""	""	""	"4"	""	"00115"	"{PMID:Brunetti-Pierri 2008:18831060}"	"1 family, 4 patients"	""	""	""	""	"0"	""	""	""	""
"00311839"	""	""	""	"1"	""	"00115"	"{PMID:Ali 2007:17665217}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"Egypt"	""	"0"	""	""	""	"patient"
"00311840"	""	""	""	"1"	""	"00115"	"{PMID:Ali 2007:17665217}"	"2-generation family, 1 affected, unaffected heterozygous carrier mother"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"patient"
"00311841"	""	""	""	"2"	""	"00115"	"{PMID:Hamamy 2006:17101003}"	"1 family, 2 patients"	""	""	"Jordan"	""	"0"	""	""	""	""
"00311842"	""	""	""	"1"	""	"00115"	"{PMID:Schwarzer 2009:19640924}"	"1 family, 1 patient"	""	""	"Oman"	""	"0"	""	""	""	""
"00313952"	""	""	""	"2"	""	"03820"	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"5-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"Turkey"	""	"0"	""	""	""	"FamA4Pat"
"00331555"	""	""	""	"2"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"family, 2 affected (2M)"	"M"	"yes"	""	""	"0"	""	""	"Arab"	"13DG2208 , 17DG0871"
"00394788"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2021:33048444}, {PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"2-generation family, 1 affected, unaffected heterozygous carrier mother"	"M"	""	"United States"	""	"0"	""	""	""	"BAB9136;PatA6"
"00394789"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2021:33048444}, {PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"United States"	""	"0"	""	""	""	"BAB14232;PatA21"
"00406533"	""	""	""	"3"	""	"00006"	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"2-generation family, 3 affected brothers, unaffected heterozygous carrier parents"	"M"	"yes"	"Brazil"	""	"0"	""	""	""	"FamA1PatII3"
"00406534"	""	""	""	"2"	""	"00006"	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents"	"M"	"yes"	"Brazil"	""	"0"	""	""	""	"FamA2PatII4"
"00406535"	""	""	""	"5"	""	"00006"	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"4-generation family, 5 affected (4F, M), unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"Turkey"	""	"0"	""	""	""	"FamA3PatIV2"
"00406536"	""	""	""	"1"	""	"00006"	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"Turkey;United States"	""	"0"	""	""	""	"PatA5"
"00406538"	""	""	""	"1"	""	"00006"	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"Brazil"	""	"0"	""	""	""	"PatA7"
"00406539"	""	""	""	"1"	""	"00006"	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	"Brazil"	""	"0"	""	""	""	"PatA8"
"00406540"	""	""	""	"1"	""	"00006"	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	"Brazil"	""	"0"	""	""	""	"PatA9"
"00406541"	""	""	""	"1"	""	"00006"	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"yes"	"India"	""	"0"	""	""	""	"PatA10"
"00406542"	""	""	""	"1"	""	"00006"	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"Brazil"	""	"0"	""	""	""	"PatA11"
"00406543"	""	""	""	"1"	""	"00006"	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"Romania"	""	"0"	""	""	""	"PatA12"
"00406544"	""	""	""	"1"	""	"00006"	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	"Turkey"	""	"0"	""	""	""	"PatA13"
"00406545"	""	""	""	"1"	""	"00006"	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"Chile"	""	"0"	""	""	""	"PatA14"
"00406546"	""	""	""	"1"	""	"00006"	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"Japan"	""	"0"	""	""	""	"PatA15"
"00406547"	""	""	""	"1"	""	"00006"	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"United States"	""	"0"	""	""	""	"PatA16"
"00406548"	""	""	""	"2"	""	"00006"	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"2-generation family, 2 affected sisters, unaffected heterozygous carrier parents"	"F"	"yes"	"India"	""	"0"	""	""	""	"PatA17"
"00406549"	""	""	"00406548"	"1"	""	"00006"	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"sister"	"F"	"yes"	"India"	""	"0"	""	""	""	"PatA18"
"00406550"	""	""	""	"1"	""	"00006"	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	"Brazil"	""	"0"	""	""	""	"PatA19"
"00406551"	""	""	""	"1"	""	"00006"	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"Japan"	""	"0"	""	""	""	"PatA20"
"00406553"	""	""	""	"1"	""	"00006"	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"Japan"	""	"0"	""	""	""	"PatA22"
"00406554"	""	""	""	"1"	""	"00006"	"{PMID:Aglan 2015:26284319}"	"3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"Egypt"	""	"0"	""	""	"Egypt-U"	"Fam1Pat1"
"00406555"	""	""	""	"1"	""	"00006"	"{PMID:Aglan 2015:26284319}"	"4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	"Egypt"	""	"0"	""	""	"Egypt-L"	"Fam2Pat2"
"00406556"	""	""	""	"2"	""	"00006"	"{PMID:Aglan 2015:26284319}"	"3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"Egypt"	""	"0"	""	""	"Egypt-U"	"Fam3Pat3"
"00406557"	""	""	"00406556"	"1"	""	"00006"	"{PMID:Aglan 2015:26284319}"	"sister"	"F"	"yes"	"Egypt"	""	"0"	""	""	"Egypt-U"	"Fam3Pat4"
"00406558"	""	""	""	"1"	""	"00006"	"{PMID:Aglan 2015:26284319}"	"3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"Egypt"	""	"0"	""	""	"Egypt-U"	"Fam4Pat5"
"00406559"	""	""	""	"2"	""	"00006"	"{PMID:Aglan 2015:26284319}"	"4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"Egypt"	""	"0"	""	""	"Egypt-L"	"Fam5Pat6"
"00406560"	""	""	"00406559"	"1"	""	"00006"	"{PMID:Aglan 2015:26284319}"	"brother"	"M"	"yes"	"Egypt"	""	"0"	""	""	"Egypt-L"	"Fam5Pat7"
"00406561"	""	""	""	"3"	""	"00006"	"{PMID:Aglan 2015:26284319}"	"3-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives"	"F"	""	"Egypt"	""	"0"	""	""	"Egypt-L"	"Fam6Pat8"
"00406562"	""	""	"00406561"	"1"	""	"00006"	"{PMID:Aglan 2015:26284319}"	"sister"	"F"	""	"Egypt"	""	"0"	""	""	"Egypt-L"	"Fam6Pat9"
"00406563"	""	""	"00406561"	"1"	""	"00006"	"{PMID:Aglan 2015:26284319}"	"brother"	"M"	""	"Egypt"	""	"0"	""	""	"Egypt-L"	"Fam6Pat10"
"00406564"	""	""	""	"1"	""	"00006"	"{PMID:Aglan 2015:26284319}"	"4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"Egypt"	""	"0"	""	""	"Egypt-L"	"Fam7Pat11"
"00406565"	""	""	""	"1"	""	"00006"	"{PMID:Kirat 2020:32195677}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"yes"	"Turkey"	""	"0"	""	""	""	"Pat1"
"00406566"	""	""	""	"2"	""	"00006"	"{PMID:Kirat 2020:32195677}"	"2-generation family, affected sister/brother, unaffected heterozygous carrier parents"	"F"	"yes"	"Turkey"	""	"0"	""	""	""	"FamPat2"
"00406567"	""	""	"00406566"	"1"	""	"00006"	"{PMID:Kirat 2020:32195677}"	"brother"	"M"	"yes"	"Turkey"	""	"0"	""	""	""	"FamPat3"
"00406568"	""	""	""	"2"	""	"00006"	"{PMID:Mehawej 2012:22178368}"	"5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives"	"F"	""	"Lebanon"	""	"0"	""	""	""	"family"
"00406598"	""	""	""	"1"	""	"00006"	"{PMID:Tamhankar 2014:24932600}"	"2-generation family, 1 affected, unaffected parents"	"M"	"no"	"India"	""	"0"	""	""	""	"Pat1"
"00406599"	""	""	""	"2"	""	"00006"	"{PMID:Tamhankar 2014:24932600}"	"2-generation family, 2 affected sibs, unaffected parents"	"M"	""	"India"	""	"0"	""	""	""	"Pat2"
"00406600"	""	""	""	"1"	""	"00006"	"{PMID:Tamhankar 2014:24932600}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"India"	""	"0"	""	""	""	"Pat3"
"00406601"	""	""	""	"5"	""	"00006"	"{PMID:Brunetti-Pierri 2008:18831060}"	"3-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents"	"F;M"	""	"United States"	""	"0"	""	""	""	"family"
"00406602"	""	""	""	"1"	""	"00006"	"{PMID:Rai 2021:33496066}"	"4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	"India"	""	"0"	""	""	""	"Pat1"
"00406603"	""	""	""	"1"	""	"00006"	"{PMID:Rai 2021:33496066}"	"3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"M"	""	"India"	""	"0"	""	""	""	"Pat2"
"00406606"	""	""	""	"1"	""	"00006"	"{PMID:Yang 2020:31617258}"	"2-generation family, 3 affected (2 fetuses), unaffected heterozygous carrier parents"	""	""	"China"	""	"0"	""	""	""	"family"
"00413454"	""	""	""	"1"	""	"03820"	"{PMID:Demirkan 2022:35818921}, {DOI:Demirkan 2022:10.56434/j.arch.esp.urol.20227504.55}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	"patient"
"00433116"	""	""	""	"1"	""	"00006"	"{PMID:Stray-Pedersen 2017:27577878}"	""	"F"	""	"Norway"	""	"0"	""	""	""	"Pat94,1"
"00448526"	""	""	""	"1"	""	"03820"	"{PMID: Yang 2024:38504427}"	""	"M"	"no"	""	""	"0"	""	""	""	"patient"
"00453804"	""	""	""	"1"	""	"00006"	"{PMID:Mansoorshahi 2024:39226896}"	"analysis 215 early-onset complications bicuspid aortic valve-affected families."	""	""	"United States"	""	"0"	""	""	""	"BAV986"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 88
"{{individualid}}"	"{{diseaseid}}"
"00294890"	"00198"
"00294891"	"00198"
"00294892"	"00198"
"00294893"	"00198"
"00305255"	"00198"
"00305256"	"00198"
"00311810"	"00180"
"00311811"	"00180"
"00311812"	"00180"
"00311813"	"00180"
"00311814"	"00180"
"00311815"	"00180"
"00311816"	"00180"
"00311817"	"00180"
"00311818"	"00180"
"00311819"	"00180"
"00311820"	"00179"
"00311821"	"00179"
"00311822"	"00179"
"00311823"	"00000"
"00311824"	"00000"
"00311825"	"00000"
"00311826"	"00000"
"00311827"	"00179"
"00311828"	"00179"
"00311829"	"00179"
"00311830"	"00179"
"00311831"	"00000"
"00311832"	"00000"
"00311833"	"00000"
"00311834"	"00180"
"00311835"	"00179"
"00311836"	"00179"
"00311837"	"00179"
"00311838"	"00180"
"00311839"	"00180"
"00311840"	"00180"
"00311841"	"00179"
"00311842"	"00180"
"00313952"	"00198"
"00331555"	"05517"
"00394788"	"00180"
"00394789"	"00180"
"00406533"	"00180"
"00406534"	"00180"
"00406535"	"00180"
"00406536"	"00180"
"00406538"	"00180"
"00406539"	"00180"
"00406540"	"00180"
"00406541"	"00180"
"00406542"	"00180"
"00406543"	"00180"
"00406544"	"00180"
"00406545"	"00180"
"00406546"	"00180"
"00406547"	"00180"
"00406548"	"00180"
"00406549"	"00180"
"00406550"	"00180"
"00406551"	"00180"
"00406553"	"00180"
"00406554"	"00180"
"00406555"	"00180"
"00406556"	"00180"
"00406557"	"00180"
"00406558"	"00180"
"00406559"	"00180"
"00406560"	"00180"
"00406561"	"00180"
"00406562"	"00180"
"00406563"	"00180"
"00406564"	"00180"
"00406565"	"00180"
"00406566"	"00180"
"00406567"	"00180"
"00406568"	"00180"
"00406598"	"00594"
"00406599"	"00198"
"00406600"	"00198"
"00406601"	"00180"
"00406602"	"00180"
"00406603"	"00180"
"00406606"	"00180"
"00413454"	"05842"
"00433116"	"05292"
"00448526"	"05842"
"00453804"	"00152"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00152, 00179, 00180, 00198, 00594, 05292, 05517, 05842
## Count = 73
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000237065"	"00180"	"00311810"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000237066"	"00180"	"00311811"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000237067"	"00180"	"00311812"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000237068"	"00180"	"00311813"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000237069"	"00180"	"00311814"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000237070"	"00180"	"00311815"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000237071"	"00180"	"00311816"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000237072"	"00180"	"00311817"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000237073"	"00180"	"00311818"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000237074"	"00180"	"00311819"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000237075"	"00179"	"00311820"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"BDB1"	"brachydactyly"	""
"0000237076"	"00179"	"00311821"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"BDB1"	"brachydactyly"	""
"0000237077"	"00179"	"00311822"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"BDB1"	"brachydactyly"	""
"0000237078"	"00179"	"00311827"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"BDB1"	"brachydactyly"	""
"0000237079"	"00179"	"00311828"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"BDB1"	"brachydactyly"	""
"0000237080"	"00179"	"00311829"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"BDB1"	"brachydactyly"	""
"0000237081"	"00179"	"00311830"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"BDB1"	"brachydactyly"	""
"0000237082"	"00180"	"00311834"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"RRS1"	"normal"	""
"0000237083"	"00179"	"00311835"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"BDB1"	"brachydactyly"	""
"0000237084"	"00179"	"00311836"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"BDB1"	"brachydactyly"	""
"0000237085"	"00179"	"00311837"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"BDB1"	"brachydactyly"	""
"0000237086"	"00180"	"00311838"	"00115"	"-"	""	"Robinow syndrome, syringomyelia"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000237087"	"00180"	"00311839"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000237088"	"00180"	"00311840"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000237089"	"00179"	"00311841"	"00115"	"-"	""	""	""	""	""	""	""	""	""	""	"BDB1"	"brachydactyly"	""
"0000237090"	"00180"	"00311842"	"00115"	"-"	""	"severe brachydactyly (BDB1); patient BDB_005 has deletion of the same region"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000249747"	"05517"	"00331555"	"00000"	"Familial, autosomal recessive"	""	"Hemivertebrae, Hypoplasia of the radius"	""	""	""	""	""	""	""	""	"Mesomelic and rhizo-mesomelic dysplasias"	"skeletal dysplasia"	""
"0000299007"	"00198"	"00313952"	"03820"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; no upslanted palpebral; no downslanted palpebral; ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; no triangular mouth; no downturned corners of mouth; no thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; no bifid tongue; no micrognathia; retrognathia; high, narrow palate; oral cleft; abnormality of the dentition; tooth agenesis; no melanocytic nevus; no microtia; low-set ears; short neck; no pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; nail dysplasia; syndactyly; no camptodactyly; single transverse palmar crease; broad hallux; micropenis; no hypospadias; cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; inguinal hernia; scoliosis; rib fusion; mesomelia; limited pronation/supination of forearm; hemivertebrae"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299008"	"00180"	"00406533"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; no proptosis; long palpebral fissure; no epicanthus; no strabismus; no upslanted palpebral; downslanted palpebral; no ptosis; no long eyelashes; no midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; no triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; bifid tongue; no micrognathia; no retrognathia; no high, narrow palate; no oral cleft; abnormality of the dentition; no melanocytic nevus; microtia; low-set ears; short neck; pectus excavatum; broad thumb; short palm; brachydactyly; no clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; micropenis; no hypospadias; cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; hemivertebrae; no hip dislocation"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299009"	"00180"	"00406534"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; no proptosis; long palpebral fissure; no epicanthus; no upslanted palpebral; downslanted palpebral; ptosis; long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; bifid tongue; no micrognathia; no retrognathia; oral cleft; no abnormality of the dentition; no tooth agenesis; no microtia; no low-set ears; short neck; pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; micropenis; no hypospadias; cryptorchidism; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; scoliosis; rib fusion; mesomelia; limited pronation/supination of forearm; hemivertebrae"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299010"	"00180"	"00406535"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; no proptosis; long palpebral fissure; epicanthus; no strabismus; no upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; anteverted nares; no long philtrum; no short philtrum; no triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; bifid tongue; micrognathia; retrognathia; high, narrow palate; no oral cleft; no tooth agenesis; no melanocytic nevus; no microtia; low-set ears; short neck; pectus excavatum; broad thumb; short palm; brachydactyly; no clinodactyly; nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; hypoplastic labia minora; no hypoplastic labia majora; no abnormal heart morphology; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; limited pronation/supination of forearm; hemivertebrae"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299011"	"00180"	"00406536"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; no upslanted palpebral; downslanted palpebral; no ptosis; long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; no gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; no retrognathia; no high, narrow palate; no oral cleft; abnormality of the dentition; no melanocytic nevus; microtia; low-set ears; no short neck; pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; hypoplastic labia minora; hypoplastic labia majora; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; no scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; hip dislocation"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299013"	"00180"	"00406538"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; no proptosis; long palpebral fissure; no epicanthus; strabismus; no upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; short philtrum; triangular mouth; downturned corners of mouth; no thin upper lip vermilion; gingival overgrowth; hypoplasia of tongue; bifid tongue; no micrognathia; retrognathia; no high, narrow palate; no oral cleft; abnormality of the dentition; no melanocytic nevus; no microtia; low-set ears; no short neck; pectus excavatum; no broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; micropenis; no hypospadias; no cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; no hemivertebrae; limited pronation/supination of forearm; no hip dislocation"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299014"	"00180"	"00406539"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; no proptosis; no long palpebral fissure; epicanthus; no strabismus; no upslanted palpebral; downslanted palpebral; ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; high, narrow palate; no oral cleft; abnormality of the dentition; tooth agenesis; melanocytic nevus; no microtia; low-set ears; short neck; pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; syndactyly; no camptodactyly; single transverse palmar crease; hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; no hip dislocation"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299015"	"00180"	"00406540"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; no thin upper lip vermilion; no gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; no high, narrow palate; oral cleft; abnormality of the dentition; no melanocytic nevus; no microtia; no low-set ears; short neck; pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; syndactyly; no camptodactyly; no single transverse palmar crease; broad hallux; micropenis; no hypospadias; cryptorchidism; no sacral dimple; abnormal heart morphology; abnormality of the kidney; no hearing impairment; inguinal hernia; scoliosis; rib fusion; mesomelia; no hemivertebrae; no limited pronation/supination of forearm; no hip dislocation"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299016"	"00180"	"00406541"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; epicanthus; strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; bifid tongue; micrognathia; retrognathia; no oral cleft; no short neck; pectus excavatum; no broad thumb; short palm; brachydactyly; no hypoplastic labia minora; no hypoplastic labia majora; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; scoliosis; rib fusion; mesomelia; hemivertebrae"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299017"	"00180"	"00406542"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; no upslanted palpebral; downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; no high, narrow palate; no oral cleft; no melanocytic nevus; no microtia; low-set ears; short neck; no pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; camptodactyly; single transverse palmar crease; broad hallux; micropenis; no hypospadias; cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; inguinal hernia; no scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; no hip dislocation"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299018"	"00180"	"00406543"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; proptosis; no long palpebral fissure; no epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; short philtrum; triangular mouth; no downturned corners of mouth; no thin upper lip vermilion; gingival overgrowth; hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; no high, narrow palate; no oral cleft; abnormality of the dentition; no melanocytic nevus; no microtia; low-set ears; no short neck; pectus excavatum; no broad thumb; short palm; brachydactyly; clinodactyly; nail dysplasia; syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; no hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; hearing impairment; no inguinal hernia; scoliosis; no rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; no hip dislocation"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299019"	"00180"	"00406544"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; no upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; high, narrow palate; no oral cleft; abnormality of the dentition; no tooth agenesis; melanocytic nevus; no microtia; low-set ears; short neck; pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; nail dysplasia; no syndactyly; camptodactyly; broad hallux; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; no hip dislocation"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299020"	"00180"	"00406545"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; no upslanted palpebral; downslanted palpebral; no ptosis; no long eyelashes; midface retrusion; depressed nasal bridge; no wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; no thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; high, narrow palate; oral cleft; melanocytic nevus; no microtia; low-set ears; short neck; no broad thumb; short palm; brachydactyly; no clinodactyly; no nail dysplasia; syndactyly; no camptodactyly; no single transverse palmar crease; micropenis; hypospadias; no cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; no hip dislocation"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299021"	"00180"	"00406546"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; proptosis; no long palpebral fissure; epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; short philtrum; no triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; no bifid tongue; no micrognathia; no retrognathia; high, narrow palate; no oral cleft; abnormality of the dentition; no tooth agenesis; no melanocytic nevus; no microtia; low-set ears; short neck; no pectus excavatum; no broad thumb; short palm; brachydactyly; clinodactyly; nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; no hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; no hip dislocation"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299022"	"00180"	"00406547"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; no proptosis; no long palpebral fissure; no epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; short philtrum; triangular mouth; downturned corners of mouth; no thin upper lip vermilion; gingival overgrowth; hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; no high, narrow palate; no oral cleft; abnormality of the dentition; tooth agenesis; no melanocytic nevus; no microtia; no low-set ears; no short neck; no pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; broad hallux; no hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; abnormal heart morphology; no abnormality of the kidney; hearing impairment; no inguinal hernia; no scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; hip dislocation"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299023"	"00180"	"00406548"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; no long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; no short philtrum; no triangular mouth; no downturned corners of mouth; no thin upper lip vermilion; no gingival overgrowth; no bifid tongue; no micrognathia; no retrognathia; no oral cleft; no melanocytic nevus; no microtia; no low-set ears; no short neck; no pectus excavatum; no broad thumb; no short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; no hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; no scoliosis; rib fusion; mesomelia; hemivertebrae; no limited pronation/supination of forearm; no hip dislocation"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299024"	"00180"	"00406549"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; no long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; no short philtrum; no triangular mouth; no downturned corners of mouth; no thin upper lip vermilion; no gingival overgrowth; no bifid tongue; no micrognathia; no retrognathia; no oral cleft; no tooth agenesis; no melanocytic nevus; no microtia; no low-set ears; no short neck; no pectus excavatum; no broad thumb; no short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; no hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; no scoliosis; rib fusion; mesomelia; hemivertebrae; no limited pronation/supination of forearm; no hip dislocation"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299025"	"00180"	"00406550"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; proptosis; no long palpebral fissure; no epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; short philtrum; triangular mouth; downturned corners of mouth; no thin upper lip vermilion; no gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; no high, narrow palate; no oral cleft; no abnormality of the dentition; no tooth agenesis; no melanocytic nevus; no microtia; no low-set ears; short neck; no pectus excavatum; broad thumb; no short palm; brachydactyly; clinodactyly; nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; broad hallux; hypoplastic labia minora; hypoplastic labia majora; no sacral dimple; no abnormal heart morphology; abnormality of the kidney; no hearing impairment; no inguinal hernia; no scoliosis; rib fusion; mesomelia; hemivertebrae; no limited pronation/supination of forearm; no hip dislocation"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299026"	"00180"	"00406551"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; no bifid tongue; micrognathia; retrognathia; no high, narrow palate; no oral cleft; no abnormality of the dentition; no tooth agenesis; no melanocytic nevus; no microtia; low-set ears; short neck; no pectus excavatum; no broad thumb; short palm; brachydactyly; clinodactyly; nail dysplasia; no syndactyly; camptodactyly; no single transverse palmar crease; broad hallux; micropenis; no hypospadias; no cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; no rib fusion; mesomelia; hemivertebrae; no limited pronation/supination of forearm; no hip dislocation"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299028"	"00180"	"00406553"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; epicanthus; strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; no long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; high, narrow palate; no oral cleft; abnormality of the dentition; melanocytic nevus; no microtia; no low-set ears; short neck; no pectus excavatum; no broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; no hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; abnormal heart morphology; abnormality of the kidney; no hearing impairment; no inguinal hernia; no scoliosis; no rib fusion; mesomelia; no hemivertebrae; no limited pronation/supination of forearm; no hip dislocation"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299029"	"00180"	"00406554"	"00006"	"Familial, autosomal recessive"	"1y6m"	"weight -1.8 SD, length -2.1 SD, OFC -0.5 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; crowded teeth; gingival overgrowth; micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; micropenis; mesomelia; brachydactyly; broad thumbs and big toes; no abnormal dermatoglyphics; fused vertebrae; hemivertebrae; spina bifida; no scoliosis; no rib crowding and fusion; ECG normal"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299030"	"00180"	"00406555"	"00006"	"Familial, autosomal recessive"	"3y3m"	"weight -0.5 SD, length -4.0 SD, OFC -0.5 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; no upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; no crowded teeth; gingival overgrowth; micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; absent/hypoplastic labia or clitoris; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; fused vertebrae; hemivertebrae; spina bifida; no scoliosis; no rib crowding and fusion; ECG normal"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299031"	"00180"	"00406556"	"00006"	"Familial, autosomal recessive"	"3y4m"	"weight -1.6 SD, length -2.1 SD, OFC -1.4 SD; delayed motor and mental milestones ; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; no bifid tip of tongue; crowded teeth; gingival overgrowth; micrognathia; no natal teeth; midline abdominal defect/umbilical hernia; micropenis; mesomelia; brachydactyly; broad thumbs and big toes; no abnormal dermatoglyphics; no fused vertebrae; no hemivertebrae; spina bifida; no scoliosis; no rib crowding and fusion; ECG ventricular septal defect"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299032"	"00180"	"00406557"	"00006"	"Familial, autosomal recessive"	"5y4m"	"weight -1.8 SD, length -3.0 SD, OFC -2.7 SD; Delayed; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; crowded teeth; gingival overgrowth; micrognathia; natal teeth; midline abdominal defect/umbilical hernia; absent/hypoplastic labia or clitoris; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; no fused vertebrae; no hemivertebrae; spina bifida; no scoliosis; no rib crowding and fusion; ECG normal"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299033"	"00180"	"00406558"	"00006"	"Familial, autosomal recessive"	"5m"	"weight -1.2 SD, length -4.5 SD, OFC -0.5 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; no bifid tip of tongue; no crowded teeth; gingival overgrowth; micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; micropenis; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; no fused vertebrae; hemivertebrae; no spina bifida; no scoliosis; rib crowding and fusion; ECG normal"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299034"	"00180"	"00406559"	"00006"	"Familial, autosomal recessive"	"5y"	"weight -3.0 SD, length -3.6 SD, OFC -0.5 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; no crowded teeth; gingival overgrowth; micrognathia; no natal teeth; midline abdominal defect/umbilical hernia; micropenis; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; no fused vertebrae; hemivertebrae; no spina bifida; scoliosis; no rib crowding and fusion; ECG normal"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299035"	"00180"	"00406560"	"00006"	"Familial, autosomal recessive"	"4y"	"weight -2.8 SD, length -4.0 SD, OFC -0.8 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; no bifid tip of tongue; no crowded teeth; gingival overgrowth; no micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; micropenis; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; fused vertebrae; hemivertebrae; no spina bifida; no scoliosis; no rib crowding and fusion; ECG normal"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299036"	"00180"	"00406561"	"00006"	"Familial, autosomal recessive"	"4y"	"weight -2.7 SD, length -5.4 SD, OFC -2.4 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; crowded teeth; gingival overgrowth; no micrognathia; no natal teeth; midline abdominal defect/umbilical hernia; absent/hypoplastic labia or clitoris; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; fused vertebrae; hemivertebrae; spina bifida; scoliosis; rib crowding and fusion; ECG atrial septal defect, pulmonary stenosis"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299037"	"00180"	"00406562"	"00006"	"Familial, autosomal recessive"	"4y"	"weight -3.0 SD, length -5.0 SD, OFC -1.9 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; no crowded teeth; gingival overgrowth; micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; absent/hypoplastic labia or clitoris; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; fused vertebrae; hemivertebrae; spina bifida; no scoliosis; no rib crowding and fusion; ECG atrial septal defect, pulmonary stenosis"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299038"	"00180"	"00406563"	"00006"	"Familial, autosomal recessive"	"9m"	"weight -1.9 SD, length -4.7 SD, OFC -1.0 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; no crowded teeth; gingival overgrowth; micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; micropenis; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; fused vertebrae; hemivertebrae; spina bifida; no scoliosis; no rib crowding and fusion; ECG atrial septal defect, pulmonary stenosis"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299039"	"00180"	"00406564"	"00006"	"Familial, autosomal recessive"	"6y6m"	"weight -1.2 SD, length -1.0 SD, OFC 2.8 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; no crowded teeth; gingival overgrowth; no micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; micropenis; no mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; no fused vertebrae; no hemivertebrae; no spina bifida; no scoliosis; no rib crowding and fusion; ECG normal"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299040"	"00180"	"00406565"	"00006"	"Familial, autosomal recessive"	"24y"	"see paper; ..., acromesomelic short stature, scoliosis, height 132 cm (<3rd centile), weight 32 kg (<3rd centile), OFC 52 cm (<3rd centile), relative macrocephaly, hypertelorism, depressed nasal bridge, bulbous nasal tip, large mouth, short uvula; brachydactyly, aplasia middle phalanx, shortening distal phalanx fifth fingers bilaterally; toe nail dystrophy, fifth fingernail aplasia; forearm supination, pronation restricted.; phalangeal anomalies, acromesomelia, hand length 11.5 cm (<3rd centile)], scoliosis with thoracolumbar vertebral anomalies; bilateral distal ulnar hypoplasia, radioulnar dislocation; normal renal ultrasound; ECG normal"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299041"	"00180"	"00406566"	"00006"	"Familial, autosomal recessive"	"03y"	"height 77.5 cm (<3rd centile), weight 9600 g (<3rd centile), OFC 44 cm (<3rd centile); hypertelorism, depressed nasal root, epicanthal folds, short nose, anteverted nares, long philtrum, downturned corners mouth, enamel dysplasia, short forearms, hypoplastic toe nails; short radius, short ulna, rib fusions, thoracic vertebral anomalies; normal renal ultrasound, ECG normal"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299042"	"00180"	"00406567"	"00006"	"Familial, autosomal recessive"	"00y00m01d"	"weight 2400 g (<3rd centile), height 43 cm (<3rd centile), OFC 34 cm (25th centile); flat face, hypertelorism, depressed nasal root, short nose, anteverted nares, low-set/posteriorly angulated ears, large mouth, downturned corners, gingival hyperplasia, short forearms with Madelung deformity, hypoplastic toe nails; severe micropenis, undescended testis; rib fusion; normal renal ultrasound, ECG normal"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299043"	"00180"	"00406568"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299073"	"00594"	"00406598"	"00006"	"Familial, autosomal recessive"	"02y06m"	"see paper; ..., short at birth; normal motor and mental milestones; height was 67.5 cm (-7.1 SD), short limbs, OFC 47 cm; acromesomelia, facial abnormalities, frontal bossing, prominent eyes, hypertelorism, flat nasal bridge, anteverted nostrils, folded low set ears, tented upper lip, wide mouth, gum hypertrophy suggestive of \'fetal facies\'; thoracolumbar scoliosis, small hands, small penis (stretched penile length 1 cm), retractile testes; X-ray large cranium, crowded right sided ribs, absent left ribs 3 and 4, marked thoracic scoliosis to the right, lumbar scoliosis to the left, thoracic and lumbar hemivertebrae, short radius, short ulna; upper limb mesomelia more severe than lower limb; USG normal, ECG normal"	""	""	"short stature, facial dysmorphism"	""	""	""	""	""	"RRS1"	"achondroplasia (prenatal)"	""
"0000299074"	"00198"	"00406599"	"00006"	"Familial, autosomal recessive"	"02y"	"see paper; ..."	""	""	""	""	""	""	""	""	"RRS1"	""	""
"0000299075"	"00198"	"00406600"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	"dysmorphic features, small phallus"	""	""	""	""	""	"RRS1"	""	""
"0000299076"	"00180"	"00406602"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299077"	"00180"	"00406603"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299080"	"00180"	"00406606"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299083"	"00180"	"00394788"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; no proptosis; no long palpebral fissure; no epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; no high, narrow palate; oral cleft; abnormality of the dentition; no melanocytic nevus; no microtia; low-set ears; no short neck; no pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; syndactyly; camptodactyly; single transverse palmar crease; no broad hallux; micropenis; hypospadias; no cryptorchidism; sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; hip dislocation"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000299084"	"00180"	"00394789"	"00006"	"Familial, autosomal recessive"	""	"short stature; prominent forehead; hypertelorism; no proptosis; no long palpebral fissure; epicanthus; no strabismus; no upslanted palpebral; downslanted palpebral; no ptosis; no long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; no anteverted nares; no long philtrum; no short philtrum; triangular mouth; no downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; hypoplasia of tongue; bifid tongue; micrognathia; no retrognathia; no oral cleft; no melanocytic nevus; no microtia; low-set ears; short neck; no pectus excavatum; broad thumb; short palm; brachydactyly; no clinodactyly; nail dysplasia; no syndactyly; no camptodactyly; single transverse palmar crease; broad hallux; micropenis; no hypospadias; no cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; hemivertebrae; no limited pronation/supination of forearm; no hip dislocation"	""	""	""	""	""	""	""	""	"RRS1"	"Robinow syndrome"	""
"0000305427"	"05842"	"00413454"	"03820"	"Familial, autosomal recessive"	"02y?"	"Short stature [-5, 43 standard deviation (SD) score] and low weight  (-3. 75 SD score),\r\nhigh forehead, broad wide nasal bone,\r\nupturned nose with anteverted nares, long philtrum and tented lips, telecanthus, hypertelorism, low set ears, macrocephaly and a triangular-fish mouth, pectus excavatum, mesomelic shortening of forearm, broad thumbs and other fingers, clinodactyly in left hand, syndactyly ing the second and third toes of the right foot and right cleft hand with absence of third finger. External genitalia revealed micropenis, retractile palpable testis and scrotal hypoplasia. Incomplete bladder duplication"	""	""	""	""	""	""	""	""	""	""	""
"0000323642"	"05292"	"00433116"	"00006"	"Unknown"	"13y"	"neutrophil defect or congenital condition with bone marrow failure such as dyskeratosis congenita and Fanconi-like phenotype, anemia and thrombocytopenia"	""	""	""	""	""	""	""	""	""	"primary immunodeficiency disease"	""
"0000342461"	"00152"	"00453804"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"bicuspid aortic valve"	""


## Screenings ## Do not remove or alter this header ##
## Count = 89
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000296058"	"00294890"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296059"	"00294891"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296060"	"00294892"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296061"	"00294893"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000306384"	"00305255"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000306385"	"00305256"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000312982"	"00311810"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ"	"DNA"	""	""
"0000312983"	"00311811"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ"	"DNA"	""	""
"0000312984"	"00311812"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ"	"DNA"	""	""
"0000312985"	"00311813"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ"	"DNA"	""	""
"0000312986"	"00311814"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ"	"DNA"	""	""
"0000312987"	"00311815"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ"	"DNA"	""	""
"0000312988"	"00311816"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"RFLP;SEQ;SSCA"	"DNA"	""	""
"0000312989"	"00311817"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"RFLP;SEQ;SSCA"	"DNA"	""	""
"0000312990"	"00311818"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"RFLP;SEQ;SSCA"	"DNA"	""	""
"0000312991"	"00311819"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"RFLP;SEQ;SSCA"	"DNA"	""	""
"0000312992"	"00311820"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ;SSCA;ASO"	"DNA"	""	""
"0000312993"	"00311821"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"RFLP;SEQ;SSCA"	"DNA"	""	""
"0000312994"	"00311822"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ;SSCA;ASO"	"DNA"	""	""
"0000312995"	"00311823"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SSCA;SEQ"	"DNA"	""	""
"0000312996"	"00311824"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SSCA;SEQ"	"DNA"	""	""
"0000312997"	"00311825"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SSCA;SEQ"	"DNA"	""	""
"0000312998"	"00311826"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SSCA;SEQ"	"DNA"	""	""
"0000312999"	"00311827"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ;RFLP"	"DNA"	""	""
"0000313000"	"00311828"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ;RFLP"	"DNA"	""	""
"0000313001"	"00311829"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ"	"DNA"	""	""
"0000313002"	"00311830"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ;RFLP"	"DNA"	""	""
"0000313003"	"00311831"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ"	"DNA"	""	""
"0000313004"	"00311832"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ"	"DNA"	""	""
"0000313005"	"00311833"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ"	"DNA"	""	""
"0000313006"	"00311834"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ"	"DNA"	""	""
"0000313007"	"00311835"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ;RFLP"	"DNA"	""	""
"0000313008"	"00311836"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ"	"DNA"	""	""
"0000313009"	"00311837"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ"	"DNA"	""	""
"0000313010"	"00311838"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ;PCRq"	"DNA"	""	""
"0000313011"	"00311839"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ"	"DNA"	""	""
"0000313012"	"00311840"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ"	"DNA"	""	""
"0000313013"	"00311841"	"1"	"00115"	"00115"	"2009-02-26 12:09:50"	"00115"	"2010-03-30 15:56:18"	"SEQ"	"DNA"	""	""
"0000313014"	"00311842"	"1"	"00115"	"00115"	"2010-04-28 12:53:12"	"00115"	"2010-04-29 08:54:58"	"IHC"	"DNA"	""	""
"0000315125"	"00313952"	"1"	"03820"	"00006"	"2020-10-09 10:06:35"	"00006"	"2022-04-01 11:55:38"	"MLPA;PCR;SEQ"	"DNA"	""	""
"0000332774"	"00331555"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000396035"	"00394788"	"1"	"00006"	"00006"	"2021-12-02 08:54:16"	""	""	"SEQ"	"DNA"	""	""
"0000396036"	"00394789"	"1"	"00006"	"00006"	"2021-12-02 09:00:47"	""	""	"SEQ"	"DNA"	""	""
"0000407776"	"00406533"	"1"	"00006"	"00006"	"2022-04-01 11:58:12"	""	""	"SEQ"	"DNA"	""	""
"0000407777"	"00406534"	"1"	"00006"	"00006"	"2022-04-01 11:58:12"	""	""	"SEQ"	"DNA"	""	""
"0000407778"	"00406535"	"1"	"00006"	"00006"	"2022-04-01 11:58:12"	""	""	"SEQ"	"DNA"	""	""
"0000407779"	"00406536"	"1"	"00006"	"00006"	"2022-04-01 11:58:12"	""	""	"SEQ"	"DNA"	""	""
"0000407781"	"00406538"	"1"	"00006"	"00006"	"2022-04-01 11:58:12"	""	""	"SEQ"	"DNA"	""	""
"0000407782"	"00406539"	"1"	"00006"	"00006"	"2022-04-01 11:58:12"	""	""	"SEQ"	"DNA"	""	""
"0000407783"	"00406540"	"1"	"00006"	"00006"	"2022-04-01 11:58:12"	""	""	"SEQ"	"DNA"	""	""
"0000407784"	"00406541"	"1"	"00006"	"00006"	"2022-04-01 11:58:12"	""	""	"SEQ"	"DNA"	""	""
"0000407785"	"00406542"	"1"	"00006"	"00006"	"2022-04-01 11:58:12"	""	""	"arrayCGH;MLPA;PCR;SEQ"	"DNA"	""	""
"0000407786"	"00406543"	"1"	"00006"	"00006"	"2022-04-01 11:58:12"	""	""	"SEQ"	"DNA"	""	""
"0000407787"	"00406544"	"1"	"00006"	"00006"	"2022-04-01 11:58:12"	""	""	"SEQ"	"DNA"	""	""
"0000407788"	"00406545"	"1"	"00006"	"00006"	"2022-04-01 11:58:12"	""	""	"SEQ"	"DNA"	""	""
"0000407789"	"00406546"	"1"	"00006"	"00006"	"2022-04-01 11:58:12"	""	""	"SEQ-NG"	"DNA"	""	""
"0000407790"	"00406547"	"1"	"00006"	"00006"	"2022-04-01 11:58:12"	""	""	"SEQ"	"DNA"	""	""
"0000407791"	"00406548"	"1"	"00006"	"00006"	"2022-04-01 11:58:12"	""	""	"SEQ-NG"	"DNA"	""	""
"0000407792"	"00406549"	"1"	"00006"	"00006"	"2022-04-01 11:58:12"	""	""	"SEQ"	"DNA"	""	""
"0000407793"	"00406550"	"1"	"00006"	"00006"	"2022-04-01 11:58:12"	""	""	"SEQ-NG"	"DNA"	""	""
"0000407794"	"00406551"	"1"	"00006"	"00006"	"2022-04-01 11:58:12"	""	""	"SEQ"	"DNA"	""	""
"0000407796"	"00406553"	"1"	"00006"	"00006"	"2022-04-01 11:58:12"	""	""	"SEQ"	"DNA"	""	""
"0000407797"	"00406554"	"1"	"00006"	"00006"	"2022-04-01 13:30:47"	""	""	"SEQ"	"DNA"	""	""
"0000407798"	"00406555"	"1"	"00006"	"00006"	"2022-04-01 13:30:47"	""	""	"SEQ"	"DNA"	""	""
"0000407799"	"00406556"	"1"	"00006"	"00006"	"2022-04-01 13:30:47"	""	""	"SEQ"	"DNA"	""	""
"0000407800"	"00406557"	"1"	"00006"	"00006"	"2022-04-01 13:30:47"	""	""	"SEQ"	"DNA"	""	""
"0000407801"	"00406558"	"1"	"00006"	"00006"	"2022-04-01 13:30:47"	""	""	"SEQ"	"DNA"	""	""
"0000407802"	"00406559"	"1"	"00006"	"00006"	"2022-04-01 13:30:47"	""	""	"SEQ"	"DNA"	""	""
"0000407803"	"00406560"	"1"	"00006"	"00006"	"2022-04-01 13:30:47"	""	""	"SEQ"	"DNA"	""	""
"0000407804"	"00406561"	"1"	"00006"	"00006"	"2022-04-01 13:30:47"	""	""	"SEQ"	"DNA"	""	""
"0000407805"	"00406562"	"1"	"00006"	"00006"	"2022-04-01 13:30:47"	""	""	"SEQ"	"DNA"	""	""
"0000407806"	"00406563"	"1"	"00006"	"00006"	"2022-04-01 13:30:47"	""	""	"SEQ"	"DNA"	""	""
"0000407807"	"00406564"	"1"	"00006"	"00006"	"2022-04-01 13:30:47"	""	""	"SEQ"	"DNA"	""	""
"0000407808"	"00406565"	"1"	"00006"	"00006"	"2022-04-01 14:06:12"	""	""	"SEQ"	"DNA"	""	""
"0000407809"	"00406566"	"1"	"00006"	"00006"	"2022-04-01 14:11:14"	""	""	"SEQ"	"DNA"	""	""
"0000407810"	"00406567"	"1"	"00006"	"00006"	"2022-04-01 14:16:42"	""	""	"SEQ"	"DNA"	""	""
"0000407811"	"00406568"	"1"	"00006"	"00006"	"2022-04-01 14:21:21"	""	""	"SEQ"	"DNA"	""	""
"0000407841"	"00406598"	"1"	"00006"	"00006"	"2022-04-01 16:04:09"	""	""	"SEQ"	"DNA"	""	""
"0000407842"	"00406599"	"1"	"00006"	"00006"	"2022-04-01 16:06:24"	""	""	"SEQ"	"DNA"	""	""
"0000407843"	"00406600"	"1"	"00006"	"00006"	"2022-04-01 16:10:49"	""	""	"SEQ"	"DNA"	""	""
"0000407844"	"00406601"	"1"	"00006"	"00006"	"2022-04-01 16:16:44"	""	""	"PCR;PCRq;SEQ"	"DNA"	""	""
"0000407845"	"00406602"	"1"	"00006"	"00006"	"2022-04-01 16:51:31"	""	""	"SEQ"	"DNA"	""	"WGS"
"0000407846"	"00406603"	"1"	"00006"	"00006"	"2022-04-01 16:51:31"	""	""	"SEQ"	"DNA"	""	"WGS"
"0000407849"	"00406606"	"1"	"00006"	"00006"	"2022-04-01 18:27:50"	""	""	"arrayCGH;microscope;SEQ;SEQ-NG"	"DNA"	""	""
"0000414733"	"00413454"	"1"	"03820"	"03820"	"2022-07-18 20:11:03"	""	""	"?"	"DNA"	""	""
"0000434547"	"00433116"	"1"	"00006"	"00006"	"2023-02-28 15:41:53"	""	""	"SEQ-NG"	"DNA"	""	""
"0000450109"	"00448526"	"1"	"03820"	"03820"	"2024-03-27 12:05:27"	""	""	"SEQ-NG"	"DNA"	""	""
"0000450110"	"00448526"	"1"	"03820"	"03820"	"2024-03-27 12:14:27"	""	""	"SEQ-NG"	"DNA"	""	""
"0000455416"	"00453804"	"1"	"00006"	"00006"	"2024-09-11 19:50:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 77
"{{screeningid}}"	"{{geneid}}"
"0000312982"	"ROR2"
"0000312983"	"ROR2"
"0000312984"	"ROR2"
"0000312985"	"ROR2"
"0000312986"	"ROR2"
"0000312987"	"ROR2"
"0000312988"	"ROR2"
"0000312989"	"ROR2"
"0000312990"	"ROR2"
"0000312991"	"ROR2"
"0000312992"	"ROR2"
"0000312993"	"ROR2"
"0000312994"	"ROR2"
"0000312995"	"ROR2"
"0000312996"	"ROR2"
"0000312997"	"ROR2"
"0000312998"	"ROR2"
"0000312999"	"ROR2"
"0000313000"	"ROR2"
"0000313001"	"ROR2"
"0000313002"	"ROR2"
"0000313003"	"ROR2"
"0000313004"	"ROR2"
"0000313005"	"ROR2"
"0000313006"	"ROR2"
"0000313007"	"ROR2"
"0000313008"	"ROR2"
"0000313009"	"ROR2"
"0000313010"	"ROR2"
"0000313011"	"ROR2"
"0000313012"	"ROR2"
"0000313013"	"ROR2"
"0000313014"	"ROR2"
"0000315125"	"ROR2"
"0000332774"	"ROR2"
"0000396035"	"ROR2"
"0000396036"	"ROR2"
"0000407776"	"ROR2"
"0000407777"	"ROR2"
"0000407778"	"ROR2"
"0000407779"	"ROR2"
"0000407781"	"ROR2"
"0000407782"	"ROR2"
"0000407783"	"ROR2"
"0000407784"	"ROR2"
"0000407785"	"ROR2"
"0000407786"	"ROR2"
"0000407787"	"ROR2"
"0000407788"	"ROR2"
"0000407789"	"ROR2"
"0000407790"	"ROR2"
"0000407791"	"ROR2"
"0000407792"	"ROR2"
"0000407793"	"ROR2"
"0000407794"	"ROR2"
"0000407796"	"ROR2"
"0000407797"	"ROR2"
"0000407798"	"ROR2"
"0000407799"	"ROR2"
"0000407800"	"ROR2"
"0000407801"	"ROR2"
"0000407802"	"ROR2"
"0000407803"	"ROR2"
"0000407804"	"ROR2"
"0000407805"	"ROR2"
"0000407806"	"ROR2"
"0000407807"	"ROR2"
"0000407808"	"ROR2"
"0000407809"	"ROR2"
"0000407810"	"ROR2"
"0000407811"	"ROR2"
"0000407841"	"ROR2"
"0000407842"	"ROR2"
"0000407843"	"ROR2"
"0000407844"	"ROR2"
"0000407845"	"ROR2"
"0000407846"	"ROR2"


## 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 = 209
"{{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}}"
"0000297710"	"0"	"50"	"9"	"94485983"	"94485984"	"del"	"0"	"02325"	"ROR2_000071"	"g.94485983_94485984del"	""	""	""	"ROR2(NM_004560.4):c.2794_2795delCT (p.L932Afs*36)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.91723701_91723702del"	""	"VUS"	""
"0000297711"	"0"	"10"	"9"	"94495608"	"94495608"	"subst"	"0.620139"	"02325"	"ROR2_000023"	"g.94495608T>C"	""	""	""	"ROR2(NM_004560.4):c.733A>G (p.T245A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.91733326T>C"	""	"benign"	""
"0000297712"	"0"	"10"	"9"	"94538115"	"94538115"	"subst"	"0.221136"	"02325"	"ROR2_000039"	"g.94538115C>G"	""	""	""	"ROR2(NM_004560.4):c.98-15G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.91775833C>G"	""	"benign"	""
"0000332664"	"0"	"30"	"9"	"94486381"	"94486381"	"subst"	"0.00210426"	"01804"	"ROR2_000032"	"g.94486381G>A"	""	""	""	"ROR2(NM_004560.3):c.2395C>T (p.(Pro799Ser)), ROR2(NM_004560.4):c.2395C>T (p.P799S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.91724099G>A"	""	"likely benign"	""
"0000332665"	"0"	"10"	"9"	"94486693"	"94486693"	"subst"	"0.00451109"	"01804"	"ROR2_000033"	"g.94486693C>T"	""	""	""	"ROR2(NM_001318204.1):c.*2183G>A (p.(=)), ROR2(NM_004560.4):c.2083G>A (p.G695R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.91724411C>T"	""	"benign"	""
"0000332666"	"0"	"50"	"9"	"94487349"	"94487349"	"subst"	"0"	"01804"	"ROR2_000034"	"g.94487349A>G"	""	""	""	"ROR2(NM_004560.3):c.1427T>C (p.(Met476Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.91725067A>G"	""	"VUS"	""
"0000332667"	"0"	"50"	"9"	"94488869"	"94488869"	"subst"	"3.65592E-5"	"01804"	"ROR2_000035"	"g.94488869G>A"	""	""	""	"ROR2(NM_004560.3):c.1340C>T (p.(Ser447Leu)), ROR2(NM_004560.4):c.1340C>T (p.S447L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.91726587G>A"	""	"VUS"	""
"0000340577"	"0"	"10"	"9"	"94486622"	"94486622"	"subst"	"0.0857321"	"02327"	"ROR2_000025"	"g.94486622G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.91724340G>A"	""	"benign"	""
"0000341778"	"0"	"90"	"9"	"94519662"	"94519662"	"subst"	"0"	"02327"	"ROR2_000006"	"g.94519662G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.91757380G>A"	""	"pathogenic"	""
"0000343949"	"0"	"10"	"9"	"94499797"	"94499797"	"subst"	"0.0554748"	"02327"	"ROR2_000024"	"g.94499797A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.91737515A>G"	""	"benign"	""
"0000344211"	"0"	"30"	"9"	"94485971"	"94485971"	"subst"	"0.00483824"	"02327"	"ROR2_000041"	"g.94485971G>C"	""	""	""	"ROR2(NM_001318204.1):c.*2905C>G (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.91723689G>C"	""	"likely benign"	""
"0000349385"	"0"	"10"	"9"	"94495608"	"94495608"	"subst"	"0.620139"	"02327"	"ROR2_000023"	"g.94495608T>C"	""	""	""	"ROR2(NM_004560.4):c.733A>G (p.T245A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.91733326T>C"	""	"benign"	""
"0000350174"	"0"	"10"	"9"	"94486688"	"94486688"	"subst"	"0.432945"	"02327"	"ROR2_000015"	"g.94486688G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.91724406G>A"	""	"benign"	""
"0000351455"	"0"	"10"	"9"	"94485928"	"94485928"	"subst"	"0.735023"	"02327"	"ROR2_000016"	"g.94485928C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.91723646C>T"	""	"benign"	""
"0000538631"	"0"	"30"	"9"	"94485971"	"94485971"	"subst"	"0.00483824"	"01804"	"ROR2_000041"	"g.94485971G>C"	""	""	""	"ROR2(NM_001318204.1):c.*2905C>G (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.91723689G>C"	""	"likely benign"	""
"0000538633"	"0"	"30"	"9"	"94486491"	"94486491"	"subst"	"0.002984"	"01804"	"ROR2_000049"	"g.94486491G>A"	""	""	""	"ROR2(NM_001318204.1):c.*2385C>T (p.(=)), ROR2(NM_004560.4):c.2285C>T (p.S762L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.91724209G>A"	""	"likely benign"	""
"0000538634"	"0"	"30"	"9"	"94486536"	"94486536"	"subst"	"0.000163046"	"01804"	"ROR2_000050"	"g.94486536C>T"	""	""	""	"ROR2(NM_004560.4):c.2240G>A (p.(Arg747Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.91724254C>T"	""	"likely benign"	""
"0000538635"	"0"	"50"	"9"	"94486542"	"94486542"	"subst"	"4.8938E-5"	"01804"	"ROR2_000051"	"g.94486542C>T"	""	""	""	"ROR2(NM_004560.3):c.2234G>A (p.R745Q, p.(Arg745Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.91724260C>T"	""	"VUS"	""
"0000538636"	"0"	"50"	"9"	"94486744"	"94486744"	"subst"	"0"	"01804"	"ROR2_000052"	"g.94486744A>G"	""	""	""	"ROR2(NM_004560.3):c.2032T>C (p.(Tyr678His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.91724462A>G"	""	"VUS"	""
"0000538639"	"0"	"30"	"9"	"94487106"	"94487106"	"subst"	"0.000806032"	"01804"	"ROR2_000055"	"g.94487106G>A"	""	""	""	"ROR2(NM_001318204.1):c.*1770C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.91724824G>A"	""	"likely benign"	""
"0000538640"	"0"	"30"	"9"	"94487134"	"94487134"	"subst"	"0.00284756"	"01804"	"ROR2_000056"	"g.94487134G>A"	""	""	""	"ROR2(NM_001318204.1):c.*1742C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.91724852G>A"	""	"likely benign"	""
"0000538641"	"0"	"30"	"9"	"94487187"	"94487187"	"subst"	"0.00192827"	"01804"	"ROR2_000057"	"g.94487187C>T"	""	""	""	"ROR2(NM_004560.3):c.1589G>A (p.(Arg530Gln)), ROR2(NM_004560.4):c.1589G>A (p.R530Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.91724905C>T"	""	"likely benign"	""
"0000538642"	"0"	"30"	"9"	"94493330"	"94493330"	"subst"	"0.00494659"	"01804"	"ROR2_000058"	"g.94493330G>C"	""	""	""	"ROR2(NM_001318204.1):c.1045C>G (p.(His349Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.91731048G>C"	""	"likely benign"	""
"0000538643"	"0"	"30"	"9"	"94519637"	"94519637"	"subst"	"0.000101518"	"01804"	"ROR2_000059"	"g.94519637G>A"	""	""	""	"ROR2(NM_004560.3):c.380C>T (p.(Thr127Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.91757355G>A"	""	"likely benign"	""
"0000538644"	"0"	"50"	"9"	"94519745"	"94519745"	"subst"	"4.06058E-6"	"02325"	"ROR2_000060"	"g.94519745G>A"	""	""	""	"ROR2(NM_004560.4):c.272C>T (p.P91L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.91757463G>A"	""	"VUS"	""
"0000612183"	"0"	"30"	"9"	"94486190"	"94486190"	"subst"	"8.94411E-5"	"01943"	"ROR2_000061"	"g.94486190G>A"	""	""	""	"ROR2(NM_004560.3):c.2586C>T (p.H862=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.91723908G>A"	""	"likely benign"	""
"0000612184"	"0"	"30"	"9"	"94486502"	"94486502"	"subst"	"9.77852E-5"	"01943"	"ROR2_000062"	"g.94486502C>T"	""	""	""	"ROR2(NM_004560.3):c.2274G>A (p.S758=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.91724220C>T"	""	"likely benign"	""
"0000612185"	"0"	"30"	"9"	"94487064"	"94487064"	"subst"	"0.00117096"	"01804"	"ROR2_000063"	"g.94487064T>C"	""	""	""	"ROR2(NM_001318204.1):c.*1812A>G (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.91724782T>C"	""	"likely benign"	""
"0000612186"	"0"	"50"	"9"	"94487211"	"94487211"	"subst"	"0.000146673"	"01943"	"ROR2_000064"	"g.94487211C>T"	""	""	""	"ROR2(NM_004560.3):c.1565G>A (p.R522Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.91724929C>T"	""	"VUS"	""
"0000612187"	"0"	"30"	"9"	"94499770"	"94499770"	"subst"	"0.000223336"	"01943"	"ROR2_000065"	"g.94499770C>T"	""	""	""	"ROR2(NM_004560.3):c.525G>A (p.Q175=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.91737488C>T"	""	"likely benign"	""
"0000652747"	"1"	"50"	"9"	"94486491"	"94486491"	"subst"	"0.002984"	"03575"	"ROR2_000049"	"g.94486491G>A"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs34491822}"	"Germline"	""	"rs34491822"	"0"	""	""	"g.91724209G>A"	""	"VUS"	""
"0000652748"	"1"	"10"	"9"	"94486693"	"94486693"	"subst"	"0.00451109"	"03575"	"ROR2_000033"	"g.94486693C>T"	"18/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"18 heterozygous; {DB:CLININrs34431454}"	"Germline"	""	"rs34431454"	"0"	""	""	"g.91724411C>T"	""	"benign"	""
"0000652749"	"1"	"30"	"9"	"94487066"	"94487066"	"subst"	"0.0276607"	"03575"	"ROR2_000066"	"g.94487066C>T"	"88/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"88 heterozygous; {DB:CLININrs41277837}"	"Germline"	""	"rs41277837"	"0"	""	""	"g.91724784C>T"	""	"likely benign"	""
"0000652750"	"1"	"30"	"9"	"94495406"	"94495406"	"subst"	"0.000297655"	"03575"	"ROR2_000067"	"g.94495406C>T"	"6/2752 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"6 heterozygous, no homozygous; {DB:CLININrs188376581}"	"Germline"	""	"rs188376581"	"0"	""	""	"g.91733124C>T"	""	"likely benign"	""
"0000670072"	"3"	"10"	"9"	"94486693"	"94486693"	"subst"	"0.00451109"	"03575"	"ROR2_000033"	"g.94486693C>T"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 homozygous; {DB:CLININrs34431454}"	"Germline"	""	"rs34431454"	"0"	""	""	"g.91724411C>T"	""	"benign"	""
"0000670073"	"3"	"30"	"9"	"94487066"	"94487066"	"subst"	"0.0276607"	"03575"	"ROR2_000066"	"g.94487066C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 homozygous; {DB:CLININrs41277837}"	"Germline"	""	"rs41277837"	"0"	""	""	"g.91724784C>T"	""	"likely benign"	""
"0000678729"	"0"	"50"	"9"	"94519683"	"94519683"	"subst"	"0"	"02325"	"ROR2_000068"	"g.94519683G>A"	""	""	""	"ROR2(NM_004560.4):c.334C>T (p.R112W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000690604"	"0"	"50"	"9"	"94486443"	"94486443"	"subst"	"4.09863E-6"	"02325"	"ROR2_000069"	"g.94486443A>G"	""	""	""	"ROR2(NM_004560.4):c.2333T>C (p.V778A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000690605"	"0"	"50"	"9"	"94493221"	"94493221"	"subst"	"2.43938E-5"	"02325"	"ROR2_000070"	"g.94493221C>T"	""	""	""	"ROR2(NM_004560.4):c.1154G>A (p.(Arg385His), p.R385H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000694695"	"3"	"97"	"9"	"94499750"	"94499750"	"subst"	"0"	"00115"	"ROR2_000001"	"g.94499750C>T"	""	"{PMID:van Bokhoven 2000:10932187}"	"-ApaLI"	"Cys182X"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000694696"	"3"	"97"	"9"	"94499682"	"94499682"	"subst"	"0"	"00115"	"ROR2_000002"	"g.94499682G>A"	""	"{PMID:van Bokhoven 2000:10932187}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000694697"	"3"	"97"	"9"	"94489020"	"94489020"	"subst"	"4.06653E-6"	"00115"	"ROR2_000003"	"g.94489020G>A"	""	"{PMID:van Bokhoven 2000:10932187}"	"+DdeI; -AvaI"	"Arg396X"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000694698"	"3"	"97"	"9"	"94486616"	"94486616"	"subst"	"0"	"00115"	"ROR2_000004"	"g.94486616C>T"	""	"{PMID:van Bokhoven 2000:10932187}"	"+DdeI; -BstNI"	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000694699"	"3"	"97"	"9"	"94486833"	"94486839"	"del"	"0"	"00115"	"ROR2_000005"	"g.94486833_94486839del"	""	"{PMID:Tufan 2005:15952209}"	"-AluI"	"1937_1943delACAAGCT  (Tyr646fsX56)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000694700"	"11"	"97"	"9"	"94499745"	"94499745"	"subst"	"4.06055E-6"	"00115"	"ROR2_000007"	"g.94499745G>A"	""	"{PMID:Tufan 2005:15952209}"	"-Alw44I"	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000694701"	"21"	"97"	"9"	"94519662"	"94519662"	"subst"	"0"	"00115"	"ROR2_000006"	"g.94519662G>A"	""	"{PMID:Tufan 2005:15952209}"	"+FatI"	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000694702"	"3"	"97"	"9"	"94499745"	"94499745"	"subst"	"4.06055E-6"	"00115"	"ROR2_000007"	"g.94499745G>A"	""	"{PMID:Afzal 2000:10932186}"	"-Alw44I"	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000694703"	"3"	"97"	"9"	"94499730"	"94499730"	"subst"	"8.1213E-6"	"00115"	"ROR2_000008"	"g.94499730G>A"	""	"{PMID:Afzal 2000:10932186}"	"-BsaWI; +BsrI"	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000694704"	"3"	"97"	"9"	"94493279"	"94493279"	"subst"	"0"	"00115"	"ROR2_000009"	"g.94493279G>A"	""	"{PMID:Afzal 2000:10932186}"	"-HpaII"	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000694705"	"3"	"97"	"9"	"94487272"	"94487272"	"subst"	"4.07156E-6"	"00115"	"ROR2_000010"	"g.94487272G>A"	""	"{PMID:Afzal 2000:10932186}"	"+StyI; -BstNI"	""	"Founder effect"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000694706"	"3"	"97"	"9"	"94486916"	"94486916"	"subst"	"0"	"00115"	"ROR2_000011"	"g.94486916A>T"	""	"{PMID:Afzal 2000:10932186}"	"-BsrDI"	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000694707"	"0"	"99"	"9"	"94486511"	"94486511"	"subst"	"0"	"00115"	"ROR2_000012"	"g.94486511G>T"	""	"{PMID:Oldridge 2000:10700182}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000694708"	"0"	"99"	"9"	"94486530"	"94486530"	"subst"	"0"	"00115"	"ROR2_000013"	"g.94486530C>T"	""	"{PMID:Oldridge 2000:10700182}"	"+StyI; -BstNI"	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000694709"	"11"	"99"	"9"	"94486527"	"94486527"	"del"	"0"	"00115"	"ROR2_000014"	"g.94486527del"	""	"{PMID:Oldridge 2000:10700182}"	""	"2249delG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000694710"	"0"	"11"	"9"	"94486688"	"94486688"	"subst"	"0.432945"	"00115"	"ROR2_000015"	"g.94486688G>A"	""	"{PMID:Oldridge 2000:10700182}"	"-RsaI"	""	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000694711"	"0"	"11"	"9"	"94485928"	"94485928"	"subst"	"0.735023"	"00115"	"ROR2_000016"	"g.94485928C>T"	""	"{PMID:Oldridge 2000:10700182}"	""	"2848G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000694712"	"0"	"11"	"9"	"94485769"	"94485772"	"del"	"0"	"00115"	"ROR2_000017"	"g.94485769_94485772del"	""	"{PMID:Oldridge 2000:10700182}"	""	"3004_3007del4"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000694713"	"0"	"11"	"9"	"94486321"	"94486321"	"subst"	"0.715991"	"00115"	"ROR2_000018"	"g.94486321C>T"	""	"{PMID:Oldridge 2000:10700182}"	"+FokI; -BsmFI"	""	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000694714"	"21"	"97"	"9"	"94488818"	"94488820"	"delins"	"0"	"00115"	"ROR2_000019"	"g.94488818_94488820delinsTTTGTGCTTACACAATGTA"	""	"{PMID:Schwabe 2000:10986040}"	"+MslI;-BsaI"	"c.IVS8+3to+5del3ins19"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000694715"	"0"	"97"	"9"	"94488884"	"94488888"	"del"	"0"	"00115"	"ROR2_000020"	"g.94488884_94488888del"	""	"{PMID:Schwabe 2000:10986040}"	"-MwoI"	"1321_1325delCGGCG  (Arg441ThrfsX14)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000694716"	"0"	"97"	"9"	"94487378"	"94487378"	"dup"	"0"	"00115"	"ROR2_000021"	"g.94487378dup"	""	"{PMID:Schwabe 2000:10986040}"	""	"c.1398_1399insA"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000694717"	"0"	"97"	"9"	"94486498"	"94486498"	"subst"	"0"	"00115"	"ROR2_000022"	"g.94486498G>A"	""	"{PMID:Schwabe 2000:10986040}"	"+AccI; -HhaI"	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000694718"	"0"	"11"	"9"	"94495608"	"94495608"	"subst"	"0.620139"	"00115"	"ROR2_000023"	"g.94495608T>C"	""	"{PMID:Schwabe 2000:10986040}"	"+SmaI"	"733G>A"	"Found in heterozygous or homozygous state + Mouse model as duoble mutant with R244W"	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000694719"	"0"	"11"	"9"	"94499797"	"94499797"	"subst"	"0.0554748"	"00115"	"ROR2_000024"	"g.94499797A>G"	""	"{PMID:Schwabe 2000:10986040}"	"+BsmFI; -FokI"	""	"Found in heterozygous or homozygous state"	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000694720"	"0"	"11"	"9"	"94486622"	"94486622"	"subst"	"0.0857321"	"00115"	"ROR2_000025"	"g.94486622G>A"	""	"{PMID:Schwabe 2000:10986040}"	"-FauI"	""	"Found in heterozygous or homozygous state"	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000694721"	"3"	"97"	"9"	"94487002"	"94487036"	"del"	"0"	"00115"	"ROR2_000026"	"g.94487002_94487036del"	""	"{PMID:van Bokhoven 2000:10932187}"	"+ DpnI; -BstNI"	"N580fsX123"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000694722"	"0"	"97"	"9"	"94486529"	"94486529"	"subst"	"0"	"00115"	"ROR2_000027"	"g.94486529C>T"	""	"{PMID:Bacchelli 2003:12919145}"	"+DdeI; - BstNI"	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000694723"	"0"	"57"	"9"	"94487378"	"94487378"	"dup"	"0"	"00115"	"ROR2_000021"	"g.94487378dup"	""	"{PMID:Yang 2004:14767912}"	""	"c.1398_1399insA"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000694724"	"0"	"97"	"9"	"94486511"	"94486511"	"subst"	"0"	"00115"	"ROR2_000012"	"g.94486511G>T"	""	"{PMID:Hellani 2009:19146779}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000694725"	"3"	"97"	"9"	"94490060"	"94498912"	"del"	"0"	"00115"	"ROR2_000028"	"g.94490060_94498912del"	""	"{PMID:Brunetti-Pierri 2008:18831060}"	"-AvaI"	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000694726"	"3"	"99"	"9"	"94499721"	"94499721"	"subst"	"0"	"00115"	"ROR2_000029"	"g.94499721A>C"	""	"{PMID:Ali 2007:17665217}"	""	""	"variant tested in mouse model"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000694727"	"3"	"99"	"9"	"94495611"	"94495611"	"subst"	"0.00067217"	"00115"	"ROR2_000030"	"g.94495611G>A"	""	"{PMID:Ali 2007:17665217}"	"+BstNI; -HpaII"	""	"father not available; variant tested in mouse model"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000694728"	"3"	"11"	"9"	"94495608"	"94495608"	"subst"	"0.620139"	"00115"	"ROR2_000023"	"g.94495608T>C"	""	"{PMID:Ali 2007:17665217}"	"SmaI+"	"733G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000694729"	"0"	"99"	"9"	"94486511"	"94486511"	"subst"	"0"	"00115"	"ROR2_000012"	"g.94486511G>T"	""	"{PMID:Hamamy 2006:17101003}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000694730"	"3"	"97"	"9"	"94488885"	"94488885"	"subst"	"4.06213E-6"	"00115"	"ROR2_000031"	"g.94488885G>A"	""	"{PMID:Schwarzer 2009:19640924}"	"+HphI"	"R441X"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000697201"	"3"	"70"	"9"	"94498192"	"94519323"	"del"	"0"	"03820"	"ROR2_000072"	"g.94498192_94519323del"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	"del ex4-5"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000722588"	"0"	"50"	"9"	"94487074"	"94487074"	"subst"	"1.63405E-5"	"01804"	"ROR2_000074"	"g.94487074G>A"	""	""	""	"ROR2(NM_004560.3):c.1702C>T (p.(Arg568Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000722589"	"0"	"30"	"9"	"94493321"	"94493321"	"subst"	"8.12216E-5"	"01943"	"ROR2_000075"	"g.94493321T>C"	""	""	""	"ROR2(NM_004560.3):c.1054A>G (p.S352G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722590"	"0"	"30"	"9"	"94495611"	"94495611"	"subst"	"0.00067217"	"01804"	"ROR2_000030"	"g.94495611G>A"	""	""	""	"ROR2(NM_001318204.1):c.730C>T (p.(Arg244Trp)), ROR2(NM_004560.4):c.730C>T (p.R244W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722591"	"0"	"30"	"9"	"94519645"	"94519645"	"subst"	"0.00268409"	"01943"	"ROR2_000076"	"g.94519645G>A"	""	""	""	"ROR2(NM_004560.3):c.372C>T (p.D124=), ROR2(NM_004560.4):c.372C>T (p.D124=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722592"	"0"	"50"	"9"	"94519702"	"94519702"	"subst"	"0"	"02325"	"ROR2_000077"	"g.94519702C>A"	""	""	""	"ROR2(NM_004560.4):c.315G>T (p.(Glu105Asp), p.E105D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000730056"	"3"	"90"	"9"	"94486806"	"94486806"	"subst"	"1.21876E-5"	"00000"	"ROR2_000073"	"g.94486806C>T"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_004560.3:c.1970G>A:p.(Arg657His)"	""	"Germline"	""	""	"0"	""	""	"g.91724524C>T"	""	"pathogenic (recessive)"	""
"0000804216"	"0"	"50"	"9"	"94486092"	"94486092"	"subst"	"0.000325161"	"01804"	"ROR2_000078"	"g.94486092T>C"	""	""	""	"ROR2(NM_001318204.1):c.*2784A>G (p.(=)), ROR2(NM_004560.4):c.2684A>G (p.D895G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000804217"	"0"	"50"	"9"	"94487187"	"94487187"	"subst"	"0.00192827"	"02325"	"ROR2_000057"	"g.94487187C>T"	""	""	""	"ROR2(NM_004560.3):c.1589G>A (p.(Arg530Gln)), ROR2(NM_004560.4):c.1589G>A (p.R530Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000804218"	"0"	"50"	"9"	"94493258"	"94493258"	"subst"	"0"	"02327"	"ROR2_000079"	"g.94493258C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000804219"	"0"	"50"	"9"	"94495533"	"94495533"	"subst"	"0.000172635"	"02325"	"ROR2_000080"	"g.94495533T>C"	""	""	""	"ROR2(NM_004560.4):c.808A>G (p.I270V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000804220"	"0"	"50"	"9"	"94495611"	"94495611"	"subst"	"0.00067217"	"02327"	"ROR2_000030"	"g.94495611G>A"	""	""	""	"ROR2(NM_001318204.1):c.730C>T (p.(Arg244Trp)), ROR2(NM_004560.4):c.730C>T (p.R244W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000827597"	"21"	"70"	"9"	"94495442"	"94495442"	"subst"	"0"	"00006"	"ROR2_000081"	"g.94495442C>A"	""	"{PMID:Zhang 2021:33048444}, {PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PM2, PM3, PP3, PP4, PP5"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000827598"	"10"	"90"	"9"	"94493386"	"94493386"	"del"	"0"	"00006"	"ROR2_000082"	"g.94493386del"	""	"{PMID:Zhang 2021:33048444}, {PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	"990delC"	"ACMG PVS1, PM2, PP4, PP5"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.91731104del"	""	"pathogenic (recessive)"	"ACMG"
"0000827599"	"11"	"50"	"9"	"94495437"	"94495437"	"subst"	"0"	"00006"	"ROR2_000083"	"g.94495437G>A"	""	"{PMID:Zhang 2021:33048444}, {PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PM2, PP4"	"Germline"	""	""	"0"	""	""	"g.91733155G>A"	""	"VUS"	"ACMG"
"0000827600"	"21"	"50"	"9"	"94486806"	"94486806"	"subst"	"1.21876E-5"	"00006"	"ROR2_000073"	"g.94486806C>T"	""	"{PMID:Zhang 2021:33048444}, {PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PM2, PP3, PP4"	"Germline"	""	""	"0"	""	""	"g.91724524C>T"	""	"VUS"	"ACMG"
"0000844561"	"3"	"70"	"9"	"94519694"	"94519694"	"subst"	"0"	"00006"	"ROR2_000110"	"g.94519694C>T"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PM2, PP4, PP5"	"Germline"	""	""	"0"	""	""	"g.91757412C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000844562"	"3"	"70"	"9"	"94519694"	"94519694"	"subst"	"0"	"00006"	"ROR2_000110"	"g.94519694C>T"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PM2, PP4, PP5"	"Germline"	""	""	"0"	""	""	"g.91757412C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000844563"	"3"	"90"	"9"	"94519662"	"94519662"	"subst"	"0"	"00006"	"ROR2_000006"	"g.94519662G>A"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PVS1, PM2, PP4, PP5"	"Germline"	""	""	"0"	""	""	"g.91757380G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000844564"	"1"	"90"	"9"	"94499682"	"94499682"	"subst"	"0"	"00006"	"ROR2_000002"	"g.94499682G>A"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PVS1, PM2, PP4, PP5"	"Germline"	""	""	"0"	""	""	"g.91737400G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000844566"	"3"	"90"	"9"	"94495624"	"94495624"	"subst"	"0"	"00006"	"ROR2_000105"	"g.94495624G>T"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PVS1, PM2, PP4, PP5"	"Germline"	""	""	"0"	""	""	"g.91733342G>T"	""	"pathogenic (recessive)"	"ACMG"
"0000844567"	"3"	"90"	"9"	"94495666"	"94495666"	"del"	"0"	"00006"	"ROR2_000106"	"g.94495666del"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	"c.675delG"	"ACMG PVS1, PM2, PP4, PP5"	"Germline"	""	""	"0"	""	""	"g.91733384del"	""	"pathogenic (recessive)"	"ACMG"
"0000844568"	"3"	"50"	"9"	"94486702"	"94486702"	"subst"	"0"	"00006"	"ROR2_000096"	"g.94486702G>T"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PM2, PP3, PP4, PP5"	"Germline"	""	""	"0"	""	""	"g.91724420G>T"	""	"VUS"	"ACMG"
"0000844569"	"3"	"90"	"9"	"94487256"	"94487260"	"delins"	"0"	"00006"	"ROR2_000101"	"g.94487256_94487260delinsA"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PVS1, PM2, PP3, PP4"	"Germline"	""	""	"0"	""	""	"g.91724974_91724978delinsA"	""	"pathogenic (recessive)"	"ACMG"
"0000844570"	"1"	"50"	"9"	"94486806"	"94486806"	"subst"	"1.21876E-5"	"00006"	"ROR2_000073"	"g.94486806C>T"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PM2, PM3, PP4"	"Germline"	""	""	"0"	""	""	"g.91724524C>T"	""	"VUS"	"ACMG"
"0000844571"	"3"	"50"	"9"	"94518345"	"94518349"	"del"	"0"	"00006"	"ROR2_000109"	"g.94518345_94518349del"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PM2, PP3, PP4"	"Germline"	""	""	"0"	""	""	"g.91756063_91756067del"	""	"VUS"	"ACMG"
"0000844572"	"3"	"70"	"9"	"94712244"	"94712244"	"subst"	"0"	"00006"	"ROR2_000112"	"g.94712244A>C"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PVS1, PM2, , PP4, PP5"	"Germline"	""	""	"0"	""	""	"g.91949962A>C"	""	"likely pathogenic (recessive)"	"ACMG"
"0000844573"	"3"	"90"	"9"	"94712169"	"94712170"	"del"	"0"	"00006"	"ROR2_000111"	"g.94712169_94712170del"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	"c.79_80delTC"	"ACMG PVS1, PM2, PP4"	"Germline"	""	""	"0"	""	""	"g.91949887_91949888del"	""	"pathogenic (recessive)"	"ACMG"
"0000844574"	"1"	"50"	"9"	"94486921"	"94486921"	"subst"	"0"	"00006"	"ROR2_000098"	"g.94486921G>T"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PM2, PP3, PP4, PP5"	"Germline"	""	""	"0"	""	""	"g.91724639G>T"	""	"VUS"	"ACMG"
"0000844575"	"11"	"70"	"9"	"94493279"	"94493279"	"subst"	"0"	"00006"	"ROR2_000009"	"g.94493279G>A"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PM1, PM2, PM3, PP3, PP4, PP5"	"Germline"	""	""	"0"	""	""	"g.91730997G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000844576"	"3"	"50"	"9"	"94495729"	"94495729"	"subst"	"0"	"00006"	"ROR2_000107"	"g.94495729C>T"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PM2, PP4, PP5, BP7"	"Germline"	""	""	"0"	""	""	"g.91733447C>T"	""	"VUS"	"ACMG"
"0000844577"	"3"	"50"	"9"	"94495729"	"94495729"	"subst"	"0"	"00006"	"ROR2_000107"	"g.94495729C>T"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PM2, PP4, PP5, BP7"	"Germline"	""	""	"0"	""	""	"g.91733447C>T"	""	"VUS"	"ACMG"
"0000844578"	"3"	"50"	"9"	"94486702"	"94486702"	"subst"	"0"	"00006"	"ROR2_000096"	"g.94486702G>T"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PM2, PP3, PP4, PP5"	"Germline"	""	""	"0"	""	""	"g.91724420G>T"	""	"VUS"	"ACMG"
"0000844579"	"21"	"90"	"9"	"94493297"	"94493297"	"del"	"0"	"00006"	"ROR2_000103"	"g.94493297del"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	"c.1083delG"	"ACMG PVS1, PM2, PM3, PP3, PP4, PP5"	"Germline"	""	""	"0"	""	""	"g.91731015del"	""	"pathogenic (recessive)"	"ACMG"
"0000844581"	"21"	"70"	"9"	"94493275"	"94493275"	"subst"	"0"	"00006"	"ROR2_000102"	"g.94493275T>A"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PM1, PM2, PM3, PP3, PP4, PP5"	"Germline"	""	""	"0"	""	""	"g.91730993T>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000844582"	"2"	"90"	"9"	"94489020"	"94489020"	"subst"	"4.06653E-6"	"00006"	"ROR2_000003"	"g.94489020G>A"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PVS1, PM2, PP4, PP5"	"Germline"	""	""	"0"	""	""	"g.91726738G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000844584"	"2"	"90"	"9"	"94371974"	"94844329"	"del"	"0"	"00006"	"ROR2_000093"	"g.94371974_94844329del"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"470 Kb deletion"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000844585"	"2"	"50"	"9"	"94486561"	"94486561"	"subst"	"4.08253E-6"	"00006"	"ROR2_000094"	"g.94486561A>G"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PM2, PP3, PP4, PP5"	"Germline"	""	""	"0"	""	""	"g.91724279A>G"	""	"VUS"	"ACMG"
"0000844586"	"21"	"70"	"9"	"94486569"	"94486569"	"subst"	"4.08684E-6"	"00006"	"ROR2_000095"	"g.94486569C>T"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PM2,  PM3, PP3, PP4, PP5"	"Germline"	""	""	"0"	""	""	"g.91724287C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000844587"	"11"	"90"	"9"	"94488885"	"94488885"	"subst"	"4.06213E-6"	"00006"	"ROR2_000031"	"g.94488885G>A"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PVS1, PM2, PM3, PP4, PP5"	"Germline"	""	""	"0"	""	""	"g.91726603G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000844589"	"11"	"90"	"9"	"94489020"	"94489020"	"subst"	"4.06653E-6"	"00006"	"ROR2_000003"	"g.94489020G>A"	""	"{PMID:Lima 2022:35344616}, {DOI:Lima 2022:10.1002/humu.24375}"	""	""	"ACMG PVS1, PM2, PM3, PP4, PP5"	"Germline"	""	""	"0"	""	""	"g.91726738G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000844590"	"3"	"90"	"9"	"94499721"	"94499721"	"subst"	"0"	"00006"	"ROR2_000029"	"g.94499721A>C"	""	"{PMID:Aglan 2015:26284319}"	""	""	""	"Germline"	""	""	"0"	""	"46,XY"	"g.91737439A>C"	""	"pathogenic (recessive)"	""
"0000844591"	"3"	"90"	"9"	"94493398"	"94493398"	"subst"	"0"	"00006"	"ROR2_000104"	"g.94493398C>G"	""	"{PMID:Aglan 2015:26284319}"	""	""	""	"Germline"	""	""	"0"	""	"46,XY"	"g.91731116C>G"	""	"pathogenic (recessive)"	""
"0000844592"	"3"	"90"	"9"	"94499799"	"94499799"	"subst"	"0"	"00006"	"ROR2_000108"	"g.94499799C>G"	""	"{PMID:Aglan 2015:26284319}"	""	""	""	"Germline"	""	""	"0"	""	"46,XY"	"g.91737517C>G"	""	"pathogenic (recessive)"	""
"0000844593"	"3"	"90"	"9"	"94499799"	"94499799"	"subst"	"0"	"00006"	"ROR2_000108"	"g.94499799C>G"	""	"{PMID:Aglan 2015:26284319}"	""	""	""	"Germline"	""	""	"0"	""	"46,XY"	"g.91737517C>G"	""	"pathogenic (recessive)"	""
"0000844594"	"3"	"90"	"9"	"94499721"	"94499721"	"subst"	"0"	"00006"	"ROR2_000029"	"g.94499721A>C"	""	"{PMID:Aglan 2015:26284319}"	""	""	""	"Germline"	""	""	"0"	""	"46,XY"	"g.91737439A>C"	""	"pathogenic (recessive)"	""
"0000844595"	"3"	"90"	"9"	"94499721"	"94499721"	"subst"	"0"	"00006"	"ROR2_000029"	"g.94499721A>C"	""	"{PMID:Aglan 2015:26284319}"	""	""	""	"Germline"	""	""	"0"	""	"46,XY"	"g.91737439A>C"	""	"pathogenic (recessive)"	""
"0000844596"	"3"	"90"	"9"	"94499721"	"94499721"	"subst"	"0"	"00006"	"ROR2_000029"	"g.94499721A>C"	""	"{PMID:Aglan 2015:26284319}"	""	""	""	"Germline"	""	""	"0"	""	"46,XY"	"g.91737439A>C"	""	"pathogenic (recessive)"	""
"0000844597"	"3"	"90"	"9"	"94486746"	"94486746"	"subst"	"0"	"00006"	"ROR2_000097"	"g.94486746G>A"	""	"{PMID:Aglan 2015:26284319}"	""	""	""	"Germline"	""	""	"0"	""	"46,XY"	"g.91724464G>A"	""	"pathogenic (recessive)"	""
"0000844598"	"3"	"90"	"9"	"94486746"	"94486746"	"subst"	"0"	"00006"	"ROR2_000097"	"g.94486746G>A"	""	"{PMID:Aglan 2015:26284319}"	""	""	""	"Germline"	""	""	"0"	""	"46,XY"	"g.91724464G>A"	""	"pathogenic (recessive)"	""
"0000844599"	"3"	"90"	"9"	"94486746"	"94486746"	"subst"	"0"	"00006"	"ROR2_000097"	"g.94486746G>A"	""	"{PMID:Aglan 2015:26284319}"	""	""	""	"Germline"	""	""	"0"	""	"46,XY"	"g.91724464G>A"	""	"pathogenic (recessive)"	""
"0000844600"	"3"	"90"	"9"	"94487193"	"94487193"	"subst"	"0.000343179"	"00006"	"ROR2_000099"	"g.94487193C>T"	""	"{PMID:Aglan 2015:26284319}"	""	""	""	"Germline"	""	""	"0"	""	"46,XY"	"g.91724911C>T"	""	"pathogenic (recessive)"	""
"0000844601"	"3"	"70"	"9"	"94488822"	"94488822"	"subst"	"0"	"00006"	"ROR2_000084"	"g.94488822C>T"	""	"{PMID:Kirat 2020:32195677}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000844602"	"3"	"90"	"9"	"94495558"	"94495574"	"dup"	"0"	"00006"	"ROR2_000085"	"g.94495558_94495574dup"	""	"{PMID:Kirat 2020:32195677}"	""	"c.784_785insCGAGGTGCTGGAGAGCG"	""	"Germline"	"yes"	""	"0"	""	""	"g.91733276_91733292dup"	""	"pathogenic (recessive)"	""
"0000844603"	"3"	"90"	"9"	"94495558"	"94495574"	"dup"	"0"	"00006"	"ROR2_000085"	"g.94495558_94495574dup"	""	"{PMID:Kirat 2020:32195677}"	""	"c.784_785insCGAGGTGCTGGAGAGCG"	""	"Germline"	"yes"	""	"0"	""	""	"g.91733276_91733292dup"	""	"pathogenic (recessive)"	""
"0000844604"	"3"	"90"	"9"	"94495527"	"94495527"	"subst"	"8.23493E-6"	"00006"	"ROR2_000086"	"g.94495527G>A"	""	"{PMID:Mehawej 2012:22178368}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000844605"	"0"	"10"	"9"	"94518328"	"94518328"	"subst"	"0.669507"	"00006"	"ROR2_000089"	"g.94518328C>T"	""	"{PMID:Mehawej 2012:22178368}"	""	"IVS4+23G>A"	""	"Germline"	""	"rs12683181"	"0"	""	""	""	""	"benign"	""
"0000844606"	"0"	"10"	"9"	"94493470"	"94493470"	"subst"	"0.0867213"	"00006"	"ROR2_000087"	"g.94493470G>A"	""	"{PMID:Mehawej 2012:22178368}"	""	"IVS6-33C>T"	""	"Germline"	""	"rs10992070"	"0"	""	""	""	""	"benign"	""
"0000844607"	"3"	"30"	"9"	"94495579"	"94495579"	"subst"	"4.52567E-5"	"00006"	"ROR2_000088"	"g.94495579G>A"	""	"{PMID:Mehawej 2012:22178368}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000844648"	"3"	"90"	"9"	"94499750"	"94499750"	"subst"	"0"	"00006"	"ROR2_000001"	"g.94499750C>T"	""	"{PMID:Tamhankar 2014:24932600}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000844649"	"3"	"90"	"9"	"94519790"	"94519790"	"subst"	"0"	"00006"	"ROR2_000090"	"g.94519790C>T"	""	"{PMID:Tamhankar 2014:24932600}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000844650"	"3"	"90"	"9"	"94495673"	"94495673"	"subst"	"0"	"00006"	"ROR2_000091"	"g.94495673C>T"	""	"{PMID:Tamhankar 2014:24932600}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000844651"	"3"	"90"	"9"	"94490061"	"94498911"	"del"	"0"	"00006"	"ROR2_000092"	"g.94490061_94498911del"	""	"{PMID:Brunetti-Pierri 2008:18831060}"	""	"del ex6-7, g.94490060_94498912del"	""	"Germline"	"yes"	""	"0"	""	""	"g.91727779_91736629del"	""	"pathogenic (recessive)"	""
"0000844655"	"3"	"70"	"9"	"94487207"	"94487211"	"delins"	"0"	"00006"	"ROR2_000100"	"g.94487207_94487211delinsTACA"	""	"{PMID:Rai 2021:33496066}"	""	""	"ACMG PP3, PP4, PM2, PM4, PM3"	"Germline"	""	""	"0"	""	""	"g.91724925_91724929delinsTACA"	""	"likely pathogenic (recessive)"	"ACMG"
"0000844656"	"3"	"70"	"9"	"94519694"	"94519694"	"subst"	"0"	"00006"	"ROR2_000110"	"g.94519694C>T"	""	"{PMID:Rai 2021:33496066}"	""	""	"ACMG PP3, PP4, PS2"	"Germline"	""	""	"0"	""	""	"g.91757412C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000844659"	"21"	"90"	"9"	"94495437"	"94495437"	"subst"	"0"	"00006"	"ROR2_000083"	"g.94495437G>A"	""	"{PMID:Yang 2020:31617258}"	""	""	"ACMG PM2, PM3, PP2, PP3, PP4"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000844660"	"11"	"90"	"9"	"94499682"	"94499682"	"subst"	"0"	"00006"	"ROR2_000002"	"g.94499682G>A"	""	"{PMID:Yang 2020:31617258}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000852332"	"0"	"50"	"9"	"94486923"	"94486923"	"subst"	"4.06818E-6"	"02325"	"ROR2_000114"	"g.94486923G>A"	""	""	""	"ROR2(NM_004560.4):c.1853C>T (p.T618I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000852333"	"0"	"30"	"9"	"94488909"	"94488909"	"subst"	"4.46719E-5"	"01804"	"ROR2_000116"	"g.94488909C>G"	""	""	""	"ROR2(NM_004560.3):c.1300G>C (p.(Ala434Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861756"	"0"	"30"	"9"	"94486163"	"94486163"	"subst"	"8.53589E-5"	"01943"	"ROR2_000113"	"g.94486163T>G"	""	""	""	"ROR2(NM_004560.3):c.2613A>C (p.T871=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861757"	"0"	"30"	"9"	"94486381"	"94486381"	"subst"	"0.00210426"	"02325"	"ROR2_000032"	"g.94486381G>A"	""	""	""	"ROR2(NM_004560.3):c.2395C>T (p.(Pro799Ser)), ROR2(NM_004560.4):c.2395C>T (p.P799S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861758"	"0"	"30"	"9"	"94486542"	"94486542"	"subst"	"4.8938E-5"	"01943"	"ROR2_000051"	"g.94486542C>T"	""	""	""	"ROR2(NM_004560.3):c.2234G>A (p.R745Q, p.(Arg745Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861759"	"0"	"50"	"9"	"94487040"	"94487040"	"subst"	"0.000260642"	"01804"	"ROR2_000115"	"g.94487040T>A"	""	""	""	"ROR2(NM_001318204.1):c.*1836A>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000861760"	"0"	"30"	"9"	"94493389"	"94493389"	"subst"	"0.000373832"	"01804"	"ROR2_000117"	"g.94493389C>T"	""	""	""	"ROR2(NM_001318204.1):c.986G>A (p.(Ser329Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861761"	"0"	"30"	"9"	"94495394"	"94495394"	"subst"	"0.00297678"	"01943"	"ROR2_000118"	"g.94495394G>A"	""	""	""	"ROR2(NM_004560.3):c.937+10C>T, ROR2(NM_004560.4):c.937+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000872440"	"3"	"57"	"9"	"94495578"	"94495578"	"subst"	"0"	"03820"	"ROR2_000119"	"g.94495578C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.91733296C>T"	""	"VUS"	""
"0000888912"	"0"	"50"	"9"	"94486315"	"94486315"	"subst"	"0.000185234"	"02325"	"ROR2_000120"	"g.94486315C>T"	""	""	""	"ROR2(NM_004560.4):c.2461G>A (p.V821I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000888913"	"0"	"50"	"9"	"94486479"	"94486479"	"subst"	"0"	"01804"	"ROR2_000121"	"g.94486479T>C"	""	""	""	"ROR2(NM_004560.3):c.2297A>G (p.(Asn766Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000888914"	"0"	"30"	"9"	"94486825"	"94486825"	"subst"	"0"	"01804"	"ROR2_000122"	"g.94486825T>C"	""	""	""	"ROR2(NM_004560.3):c.1951A>G (p.(Asn651Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000888915"	"0"	"50"	"9"	"94486863"	"94486863"	"subst"	"3.65681E-5"	"01804"	"ROR2_000123"	"g.94486863C>T"	""	""	""	"ROR2(NM_004560.3):c.1913G>A (p.(Arg638Gln)), ROR2(NM_004560.4):c.1913G>A (p.R638Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000888916"	"0"	"30"	"9"	"94486945"	"94486945"	"subst"	"2.0352E-5"	"01804"	"ROR2_000124"	"g.94486945C>T"	""	""	""	"ROR2(NM_001318204.1):c.*1931G>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000888917"	"0"	"50"	"9"	"94487074"	"94487074"	"subst"	"1.63405E-5"	"02327"	"ROR2_000074"	"g.94487074G>A"	""	""	""	"ROR2(NM_004560.3):c.1702C>T (p.(Arg568Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000888918"	"0"	"50"	"9"	"94493306"	"94493306"	"subst"	"4.06105E-6"	"02325"	"ROR2_000125"	"g.94493306C>G"	""	""	""	"ROR2(NM_004560.4):c.1069G>C (p.E357Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000888919"	"0"	"50"	"9"	"94495455"	"94495455"	"subst"	"0"	"02325"	"ROR2_000126"	"g.94495455C>A"	""	""	""	"ROR2(NM_004560.4):c.886G>T (p.D296Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000888920"	"0"	"50"	"9"	"94499701"	"94499701"	"subst"	"0"	"01804"	"ROR2_000127"	"g.94499701C>T"	""	""	""	"ROR2(NM_004560.3):c.594G>A (p.(Met198Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000913186"	"0"	"50"	"9"	"94486443"	"94486443"	"subst"	"4.09863E-6"	"02326"	"ROR2_000069"	"g.94486443A>G"	""	""	""	"ROR2(NM_004560.4):c.2333T>C (p.V778A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000913187"	"0"	"50"	"9"	"94486711"	"94486711"	"subst"	"4.06322E-6"	"02326"	"ROR2_000128"	"g.94486711C>T"	""	""	""	"ROR2(NM_004560.4):c.2065G>A (p.G689S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000913188"	"0"	"50"	"9"	"94486863"	"94486863"	"subst"	"3.65681E-5"	"02325"	"ROR2_000123"	"g.94486863C>T"	""	""	""	"ROR2(NM_004560.3):c.1913G>A (p.(Arg638Gln)), ROR2(NM_004560.4):c.1913G>A (p.R638Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000913189"	"0"	"50"	"9"	"94486974"	"94486974"	"subst"	"2.44216E-5"	"02325"	"ROR2_000129"	"g.94486974G>A"	""	""	""	"ROR2(NM_004560.4):c.1802C>T (p.A601V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000920357"	"1"	"50"	"9"	"94487034"	"94487034"	"subst"	"5.7019E-5"	"00006"	"ROR2_000130"	"g.94487034C>T"	""	"{PMID:Stray-Pedersen 2017:27577878}"	""	""	"potential disease-modifying variant"	"Somatic"	"yes"	""	"0"	""	""	"g.91724752C>T"	""	"VUS"	"ACMG"
"0000925078"	"0"	"30"	"9"	"94486491"	"94486491"	"subst"	"0.002984"	"02326"	"ROR2_000049"	"g.94486491G>A"	""	""	""	"ROR2(NM_001318204.1):c.*2385C>T (p.(=)), ROR2(NM_004560.4):c.2285C>T (p.S762L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949317"	"0"	"50"	"9"	"94486092"	"94486092"	"subst"	"0.000325161"	"02325"	"ROR2_000078"	"g.94486092T>C"	""	""	""	"ROR2(NM_001318204.1):c.*2784A>G (p.(=)), ROR2(NM_004560.4):c.2684A>G (p.D895G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000949318"	"0"	"30"	"9"	"94486817"	"94486817"	"subst"	"0.000394062"	"02326"	"ROR2_000131"	"g.94486817C>T"	""	""	""	"ROR2(NM_004560.4):c.1959G>A (p.L653=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949319"	"0"	"50"	"9"	"94499727"	"94499727"	"subst"	"0.000345147"	"01804"	"ROR2_000132"	"g.94499727T>C"	""	""	""	"ROR2(NM_004560.3):c.568A>G (p.(Thr190Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000949320"	"0"	"30"	"9"	"94519543"	"94519543"	"subst"	"0.000158869"	"02326"	"ROR2_000133"	"g.94519543G>T"	""	""	""	"ROR2(NM_004560.4):c.463+11C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949321"	"0"	"10"	"9"	"94712171"	"94712171"	"subst"	"0.00258106"	"02326"	"ROR2_000134"	"g.94712171C>T"	""	""	""	"ROR2(NM_004560.4):c.75G>A (p.(Leu25=), p.L25=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000965529"	"0"	"30"	"9"	"94486693"	"94486693"	"subst"	"0.00451109"	"02326"	"ROR2_000033"	"g.94486693C>T"	""	""	""	"ROR2(NM_001318204.1):c.*2183G>A (p.(=)), ROR2(NM_004560.4):c.2083G>A (p.G695R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000972051"	"21"	"77"	"9"	"94488885"	"94488885"	"subst"	"4.06213E-6"	"03820"	"ROR2_000031"	"g.94488885G>A"	""	"{PMID:Yang 2024:38504427}"	""	""	""	"Germline"	""	"rs267607016"	"0"	""	""	"g.91726603G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000972053"	"10"	"77"	"9"	"94488843"	"94488843"	"dup"	"0"	"03820"	"ROR2_000135"	"g.94488843dup"	""	"{PMID:Yang 2024:38504427}"	""	""	""	"De novo"	""	"rs1587657302"	"0"	""	""	"g.91726560dup"	""	"likely pathogenic (recessive)"	"ACMG"
"0000978797"	"0"	"50"	"9"	"94486267"	"94486267"	"subst"	"8.16466E-6"	"01804"	"ROR2_000136"	"g.94486267A>C"	""	""	""	"ROR2(NM_004560.4):c.2509T>G (p.(Phe837Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000978798"	"0"	"50"	"9"	"94486563"	"94486563"	"subst"	"3.68026E-5"	"01804"	"ROR2_000137"	"g.94486563C>T"	""	""	""	"ROR2(NM_004560.4):c.2213G>A (p.(Arg738His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000978799"	"0"	"50"	"9"	"94486762"	"94486762"	"subst"	"4.06223E-5"	"01804"	"ROR2_000138"	"g.94486762C>T"	""	""	""	"ROR2(NM_004560.4):c.2014G>A (p.(Asp672Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000978800"	"0"	"50"	"9"	"94487049"	"94487049"	"subst"	"0"	"01804"	"ROR2_000139"	"g.94487049C>G"	""	""	""	"ROR2(NM_004560.4):c.1727G>C (p.(Ser576Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000978801"	"0"	"50"	"9"	"94487067"	"94487067"	"subst"	"1.6328E-5"	"02325"	"ROR2_000140"	"g.94487067G>A"	""	""	""	"ROR2(NM_004560.4):c.1709C>T (p.P570L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000978802"	"0"	"50"	"9"	"94488887"	"94488887"	"subst"	"2.43698E-5"	"01804"	"ROR2_000141"	"g.94488887C>T"	""	""	""	"ROR2(NM_004560.4):c.1322G>A (p.(Arg441Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000978803"	"0"	"30"	"9"	"94495394"	"94495394"	"subst"	"0.00297678"	"02326"	"ROR2_000118"	"g.94495394G>A"	""	""	""	"ROR2(NM_004560.3):c.937+10C>T, ROR2(NM_004560.4):c.937+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978804"	"0"	"10"	"9"	"94495624"	"94495624"	"subst"	"0.00270821"	"01804"	"ROR2_000142"	"g.94495624G>A"	""	""	""	"ROR2(NM_004560.4):c.717C>T (p.(Cys239=), p.C239=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000978805"	"0"	"30"	"9"	"94613684"	"94613684"	"subst"	"0"	"01804"	"ROR2_000143"	"g.94613684T>C"	""	""	""	"ROR2(NM_004560.4):c.98-75584A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997990"	"0"	"30"	"9"	"94486078"	"94486078"	"subst"	"9.75626E-5"	"01804"	"ROR2_000144"	"g.94486078C>T"	""	""	""	"ROR2(NM_004560.3):c.2698G>A (p.(Ala900Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997991"	"0"	"50"	"9"	"94486476"	"94486476"	"subst"	"0"	"01804"	"ROR2_000145"	"g.94486476G>T"	""	""	""	"ROR2(NM_004560.3):c.2300C>A (p.(Thr767Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000997992"	"0"	"50"	"9"	"94486783"	"94486783"	"subst"	"4.06204E-6"	"01804"	"ROR2_000146"	"g.94486783T>C"	""	""	""	"ROR2(NM_004560.3):c.1993A>G (p.(Met665Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000997993"	"0"	"50"	"9"	"94487193"	"94487193"	"subst"	"0.000343179"	"01804"	"ROR2_000099"	"g.94487193C>T"	""	""	""	"ROR2(NM_004560.3):c.1583G>A (p.(Arg528Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000997994"	"0"	"50"	"9"	"94495547"	"94495547"	"subst"	"2.879E-5"	"02325"	"ROR2_000036"	"g.94495547C>T"	""	""	""	"ROR2(NM_004560.4):c.794G>A (p.R265H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000997995"	"0"	"50"	"9"	"94519811"	"94519811"	"subst"	"0"	"01804"	"ROR2_000147"	"g.94519811T>C"	""	""	""	"ROR2(NM_004560.3):c.206A>G (p.(Asn69Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001007523"	"0"	"70"	"9"	"94519600"	"94519600"	"subst"	"0"	"00006"	"ROR2_000148"	"g.94519600G>C"	""	"{PMID:Mansoorshahi 2024:39226896}"	""	"NM_004560.4:c.417G>C"	""	"Germline"	""	""	"0"	""	""	"g.91757318G>C"	""	"VUS"	""
"0001014568"	"0"	"30"	"9"	"94486381"	"94486381"	"subst"	"0.00210426"	"02326"	"ROR2_000032"	"g.94486381G>A"	""	""	""	"ROR2(NM_004560.3):c.2395C>T (p.(Pro799Ser)), ROR2(NM_004560.4):c.2395C>T (p.P799S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001014569"	"0"	"50"	"9"	"94486806"	"94486806"	"subst"	"1.21876E-5"	"02325"	"ROR2_000073"	"g.94486806C>T"	""	""	""	"ROR2(NM_004560.4):c.1970G>A (p.R657H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001014570"	"0"	"50"	"9"	"94488869"	"94488869"	"subst"	"3.65592E-5"	"02325"	"ROR2_000035"	"g.94488869G>A"	""	""	""	"ROR2(NM_004560.3):c.1340C>T (p.(Ser447Leu)), ROR2(NM_004560.4):c.1340C>T (p.S447L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001014571"	"0"	"30"	"9"	"94495611"	"94495611"	"subst"	"0.00067217"	"02326"	"ROR2_000030"	"g.94495611G>A"	""	""	""	"ROR2(NM_001318204.1):c.730C>T (p.(Arg244Trp)), ROR2(NM_004560.4):c.730C>T (p.R244W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001014572"	"0"	"30"	"9"	"94519645"	"94519645"	"subst"	"0.00268409"	"02326"	"ROR2_000076"	"g.94519645G>A"	""	""	""	"ROR2(NM_004560.3):c.372C>T (p.D124=), ROR2(NM_004560.4):c.372C>T (p.D124=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037613"	"0"	"50"	"9"	"94486144"	"94486144"	"subst"	"0"	"01804"	"ROR2_000149"	"g.94486144G>C"	""	""	""	"ROR2(NM_004560.4):c.2632C>G (p.(Pro878Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037614"	"0"	"50"	"9"	"94486621"	"94486621"	"subst"	"2.86022E-5"	"01804"	"ROR2_000150"	"g.94486621C>T"	""	""	""	"ROR2(NM_004560.4):c.2155G>A (p.(Ala719Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037615"	"0"	"50"	"9"	"94486901"	"94486901"	"subst"	"0"	"01804"	"ROR2_000151"	"g.94486901G>T"	""	""	""	"ROR2(NM_004560.4):c.1875C>A (p.(Asp625Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037616"	"0"	"30"	"9"	"94487066"	"94487066"	"subst"	"0.0276607"	"01804"	"ROR2_000066"	"g.94487066C>T"	""	""	""	"ROR2(NM_004560.4):c.1710G>A (p.(Pro570=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037617"	"0"	"30"	"9"	"94487090"	"94487090"	"subst"	"0.00693255"	"01804"	"ROR2_000152"	"g.94487090G>A"	""	""	""	"ROR2(NM_004560.4):c.1686C>T (p.(His562=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037618"	"0"	"50"	"9"	"94493221"	"94493221"	"subst"	"2.43938E-5"	"01804"	"ROR2_000070"	"g.94493221C>T"	""	""	""	"ROR2(NM_004560.4):c.1154G>A (p.(Arg385His), p.R385H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037619"	"0"	"30"	"9"	"94495394"	"94495394"	"subst"	"0.00297678"	"01804"	"ROR2_000118"	"g.94495394G>A"	""	""	""	"ROR2(NM_004560.3):c.937+10C>T, ROR2(NM_004560.4):c.937+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037620"	"0"	"30"	"9"	"94495396"	"94495396"	"subst"	"0"	"01804"	"ROR2_000153"	"g.94495396G>A"	""	""	""	"ROR2(NM_004560.4):c.937+8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037621"	"0"	"50"	"9"	"94495530"	"94495530"	"subst"	"4.11672E-6"	"01804"	"ROR2_000154"	"g.94495530C>T"	""	""	""	"ROR2(NM_004560.4):c.811G>A (p.(Ala271Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037622"	"0"	"50"	"9"	"94519702"	"94519702"	"subst"	"0"	"01804"	"ROR2_000077"	"g.94519702C>A"	""	""	""	"ROR2(NM_004560.4):c.315G>T (p.(Glu105Asp), p.E105D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037623"	"0"	"30"	"9"	"94529604"	"94529604"	"subst"	"0"	"01804"	"ROR2_000155"	"g.94529604C>A"	""	""	""	"ROR2(NM_004560.4):c.175+8419G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037624"	"0"	"10"	"9"	"94712171"	"94712171"	"subst"	"0.00258106"	"01804"	"ROR2_000134"	"g.94712171C>T"	""	""	""	"ROR2(NM_004560.4):c.75G>A (p.(Leu25=), p.L25=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001037625"	"0"	"30"	"9"	"94712199"	"94712199"	"subst"	"7.66671E-6"	"01804"	"ROR2_000156"	"g.94712199G>C"	""	""	""	"ROR2(NM_004560.4):c.47C>G (p.(Pro16Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001046214"	"0"	"10"	"9"	"94495624"	"94495624"	"subst"	"0.00270821"	"02326"	"ROR2_000142"	"g.94495624G>A"	""	""	""	"ROR2(NM_004560.4):c.717C>T (p.(Cys239=), p.C239=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes ROR2
## Count = 209
"{{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}}"
"0000297710"	"00018047"	"50"	"2794"	"0"	"2795"	"0"	"c.2794_2795del"	"r.(?)"	"p.(Leu932AlafsTer36)"	""
"0000297711"	"00018047"	"10"	"733"	"0"	"733"	"0"	"c.733A>G"	"r.(?)"	"p.(Thr245Ala)"	""
"0000297712"	"00018047"	"10"	"98"	"-15"	"98"	"-15"	"c.98-15G>C"	"r.(=)"	"p.(=)"	""
"0000332664"	"00018047"	"30"	"2395"	"0"	"2395"	"0"	"c.2395C>T"	"r.(?)"	"p.(Pro799Ser)"	""
"0000332665"	"00018047"	"10"	"2083"	"0"	"2083"	"0"	"c.2083G>A"	"r.(?)"	"p.(Gly695Arg)"	""
"0000332666"	"00018047"	"50"	"1427"	"0"	"1427"	"0"	"c.1427T>C"	"r.(?)"	"p.(Met476Thr)"	""
"0000332667"	"00018047"	"50"	"1340"	"0"	"1340"	"0"	"c.1340C>T"	"r.(?)"	"p.(Ser447Leu)"	""
"0000340577"	"00018047"	"10"	"2154"	"0"	"2154"	"0"	"c.2154C>T"	"r.(?)"	"p.(Pro718=)"	""
"0000341778"	"00018047"	"90"	"355"	"0"	"355"	"0"	"c.355C>T"	"r.(?)"	"p.(Arg119Ter)"	""
"0000343949"	"00018047"	"10"	"498"	"0"	"498"	"0"	"c.498T>C"	"r.(?)"	"p.(Asp166=)"	""
"0000344211"	"00018047"	"30"	"2805"	"0"	"2805"	"0"	"c.2805C>G"	"r.(?)"	"p.(Asp935Glu)"	""
"0000349385"	"00018047"	"10"	"733"	"0"	"733"	"0"	"c.733A>G"	"r.(?)"	"p.(Thr245Ala)"	""
"0000350174"	"00018047"	"10"	"2088"	"0"	"2088"	"0"	"c.2088C>T"	"r.(?)"	"p.(Tyr696=)"	""
"0000351455"	"00018047"	"10"	"2848"	"0"	"2848"	"0"	"c.*16G>A"	"r.(=)"	"p.(=)"	""
"0000538631"	"00018047"	"30"	"2805"	"0"	"2805"	"0"	"c.2805C>G"	"r.(?)"	"p.(Asp935Glu)"	""
"0000538633"	"00018047"	"30"	"2285"	"0"	"2285"	"0"	"c.2285C>T"	"r.(?)"	"p.(Ser762Leu)"	""
"0000538634"	"00018047"	"30"	"2240"	"0"	"2240"	"0"	"c.2240G>A"	"r.(?)"	"p.(Arg747Gln)"	""
"0000538635"	"00018047"	"50"	"2234"	"0"	"2234"	"0"	"c.2234G>A"	"r.(?)"	"p.(Arg745Gln)"	""
"0000538636"	"00018047"	"50"	"2032"	"0"	"2032"	"0"	"c.2032T>C"	"r.(?)"	"p.(Tyr678His)"	""
"0000538639"	"00018047"	"30"	"1670"	"0"	"1670"	"0"	"c.1670C>T"	"r.(?)"	"p.(Ser557Leu)"	""
"0000538640"	"00018047"	"30"	"1642"	"0"	"1642"	"0"	"c.1642C>T"	"r.(?)"	"p.(Pro548Ser)"	""
"0000538641"	"00018047"	"30"	"1589"	"0"	"1589"	"0"	"c.1589G>A"	"r.(?)"	"p.(Arg530Gln)"	""
"0000538642"	"00018047"	"30"	"1045"	"0"	"1045"	"0"	"c.1045C>G"	"r.(?)"	"p.(His349Asp)"	""
"0000538643"	"00018047"	"30"	"380"	"0"	"380"	"0"	"c.380C>T"	"r.(?)"	"p.(Thr127Met)"	""
"0000538644"	"00018047"	"50"	"272"	"0"	"272"	"0"	"c.272C>T"	"r.(?)"	"p.(Pro91Leu)"	""
"0000612183"	"00018047"	"30"	"2586"	"0"	"2586"	"0"	"c.2586C>T"	"r.(?)"	"p.(His862=)"	""
"0000612184"	"00018047"	"30"	"2274"	"0"	"2274"	"0"	"c.2274G>A"	"r.(?)"	"p.(Ser758=)"	""
"0000612185"	"00018047"	"30"	"1712"	"0"	"1712"	"0"	"c.1712A>G"	"r.(?)"	"p.(His571Arg)"	""
"0000612186"	"00018047"	"50"	"1565"	"0"	"1565"	"0"	"c.1565G>A"	"r.(?)"	"p.(Arg522Gln)"	""
"0000612187"	"00018047"	"30"	"525"	"0"	"525"	"0"	"c.525G>A"	"r.(?)"	"p.(Gln175=)"	""
"0000652747"	"00018047"	"50"	"2285"	"0"	"2285"	"0"	"c.2285C>T"	"r.(?)"	"p.(Ser762Leu)"	""
"0000652748"	"00018047"	"10"	"2083"	"0"	"2083"	"0"	"c.2083G>A"	"r.(?)"	"p.(Gly695Arg)"	""
"0000652749"	"00018047"	"30"	"1710"	"0"	"1710"	"0"	"c.1710G>A"	"r.(=)"	"p.(=)"	""
"0000652750"	"00018047"	"30"	"935"	"0"	"935"	"0"	"c.935G>A"	"r.(?)"	"p.(Arg312His)"	""
"0000670072"	"00018047"	"10"	"2083"	"0"	"2083"	"0"	"c.2083G>A"	"r.(?)"	"p.(Gly695Arg)"	""
"0000670073"	"00018047"	"30"	"1710"	"0"	"1710"	"0"	"c.1710G>A"	"r.(=)"	"p.(=)"	""
"0000678729"	"00018047"	"50"	"334"	"0"	"334"	"0"	"c.334C>T"	"r.(?)"	"p.(Arg112Trp)"	""
"0000690604"	"00018047"	"50"	"2333"	"0"	"2333"	"0"	"c.2333T>C"	"r.(?)"	"p.(Val778Ala)"	""
"0000690605"	"00018047"	"50"	"1154"	"0"	"1154"	"0"	"c.1154G>A"	"r.(?)"	"p.(Arg385His)"	""
"0000694695"	"00018047"	"97"	"545"	"0"	"545"	"0"	"c.545G>A"	"r.(?)"	"p.(Cys182Tyr)"	"5"
"0000694696"	"00018047"	"97"	"613"	"0"	"613"	"0"	"c.613C>T"	"r.(?)"	"p.(Arg205*)"	"5"
"0000694697"	"00018047"	"97"	"1189"	"0"	"1189"	"0"	"c.1189C>T"	"r.(?)"	"p.(Arg397*)"	"8"
"0000694698"	"00018047"	"97"	"2160"	"0"	"2160"	"0"	"c.2160G>A"	"r.(?)"	"p.(Trp720*)"	"9"
"0000694699"	"00018047"	"97"	"1937"	"0"	"1943"	"0"	"c.1937_1943del"	"r.(?)"	"p.(Tyr646Cysfs*57)"	"9"
"0000694700"	"00018047"	"97"	"550"	"0"	"550"	"0"	"c.550C>T"	"r.(?)"	"p.(Arg184Cys)"	"5"
"0000694701"	"00018047"	"97"	"355"	"0"	"355"	"0"	"c.355C>T"	"r.(?)"	"p.(Arg119*)"	"3"
"0000694702"	"00018047"	"97"	"550"	"0"	"550"	"0"	"c.550C>T"	"r.(?)"	"p.(Arg184Cys)"	"5"
"0000694703"	"00018047"	"97"	"565"	"0"	"565"	"0"	"c.565C>T"	"r.(?)"	"p.(Arg189Trp)"	"5"
"0000694704"	"00018047"	"97"	"1096"	"0"	"1096"	"0"	"c.1096C>T"	"r.(?)"	"p.(Arg366Trp)"	"7"
"0000694705"	"00018047"	"97"	"1504"	"0"	"1504"	"0"	"c.1504C>T"	"r.(?)"	"p.(Gln502*)"	"9"
"0000694706"	"00018047"	"97"	"1860"	"0"	"1860"	"0"	"c.1860T>A"	"r.(?)"	"p.(Asp620Lys)"	"9"
"0000694707"	"00018047"	"99"	"2265"	"0"	"2265"	"0"	"c.2265C>A"	"r.(?)"	"p.(Tyr755*)"	"9"
"0000694708"	"00018047"	"99"	"2246"	"0"	"2246"	"0"	"c.2246G>A"	"r.(?)"	"p.(Trp749*)"	"9"
"0000694709"	"00018047"	"99"	"2249"	"0"	"2249"	"0"	"c.2249del"	"r.(?)"	"p.(Gly750Alafs*24)"	"9"
"0000694710"	"00018047"	"11"	"2088"	"0"	"2088"	"0"	"c.2088C>T"	"r.(?)"	"p.(=)"	"9"
"0000694711"	"00018047"	"11"	"2848"	"0"	"2848"	"0"	"c.*16G>A"	"r.(?)"	"p.(=)"	"9"
"0000694712"	"00018047"	"11"	"3004"	"0"	"3007"	"0"	"c.*172_*175del"	"r.(?)"	"p.(=)"	"9"
"0000694713"	"00018047"	"11"	"2455"	"0"	"2455"	"0"	"c.2455G>A"	"r.(?)"	"p.(Val819Ile)"	"9"
"0000694714"	"00018047"	"97"	"1386"	"3"	"1386"	"5"	"c.1386+3_1386+5delinsTACATTGTGTAAGCACAAA"	"r.spl?"	"p.(Ala463Tyrfs*3)"	"8i"
"0000694715"	"00018047"	"97"	"1321"	"0"	"1325"	"0"	"c.1321_1325del"	"r.(?)"	"p.(Arg441Thrfs*16)"	"8"
"0000694716"	"00018047"	"97"	"1398"	"0"	"1398"	"0"	"c.1398dup"	"r.(?)"	"p.(Glu467Argfs*58)"	"9"
"0000694717"	"00018047"	"97"	"2278"	"0"	"2278"	"0"	"c.2278C>T"	"r.(?)"	"p.(Gln760*)"	"9"
"0000694718"	"00018047"	"11"	"733"	"0"	"733"	"0"	"c.733A>G"	"r.(?)"	"p.(Thr245Ala)"	"6"
"0000694719"	"00018047"	"11"	"498"	"0"	"498"	"0"	"c.498T>C"	"r.(?)"	"p.(=)"	"5"
"0000694720"	"00018047"	"11"	"2154"	"0"	"2154"	"0"	"c.2154C>T"	"r.(?)"	"p.(=)"	"9"
"0000694721"	"00018047"	"97"	"1740"	"0"	"1774"	"0"	"c.1740_1774del"	"r.(?)"	"p.(Thr582Alafs*123)"	"9"
"0000694722"	"00018047"	"97"	"2247"	"0"	"2247"	"0"	"c.2247G>A"	"r.(?)"	"p.(Trp749*)"	"9"
"0000694723"	"00018047"	"57"	"1398"	"0"	"1398"	"0"	"c.1398dup"	"r.(?)"	"p.(Glu467Argfs*58)"	"9"
"0000694724"	"00018047"	"97"	"2265"	"0"	"2265"	"0"	"c.2265C>A"	"r.(?)"	"p.(Tyr755*)"	"9"
"0000694725"	"00018047"	"97"	"622"	"761"	"1184"	"-1035"	"c.622+761_1184-1035del"	"r.?"	"p.(Ala208_Ser395delinsGly)"	"5i"
"0000694726"	"00018047"	"99"	"574"	"0"	"574"	"0"	"c.574T>G"	"r.(?)"	"p.(Tyr192Asp)"	"5"
"0000694727"	"00018047"	"99"	"730"	"0"	"730"	"0"	"c.730C>T"	"r.(?)"	"p.(Arg244Trp)"	"6"
"0000694728"	"00018047"	"11"	"733"	"0"	"733"	"0"	"c.733A>G"	"r.(?)"	"p.(Thr245Ala)"	"6"
"0000694729"	"00018047"	"99"	"2265"	"0"	"2265"	"0"	"c.2265C>A"	"r.(?)"	"p.(Tyr755*)"	"9"
"0000694730"	"00018047"	"97"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.Arg442*"	"8"
"0000697201"	"00018047"	"70"	"463"	"231"	"622"	"1481"	"c.463+231_622+1481del"	"r.?"	"p.?"	"3i_5i"
"0000722588"	"00018047"	"50"	"1702"	"0"	"1702"	"0"	"c.1702C>T"	"r.(?)"	"p.(Arg568Cys)"	""
"0000722589"	"00018047"	"30"	"1054"	"0"	"1054"	"0"	"c.1054A>G"	"r.(?)"	"p.(Ser352Gly)"	""
"0000722590"	"00018047"	"30"	"730"	"0"	"730"	"0"	"c.730C>T"	"r.(?)"	"p.(Arg244Trp)"	""
"0000722591"	"00018047"	"30"	"372"	"0"	"372"	"0"	"c.372C>T"	"r.(?)"	"p.(Asp124=)"	""
"0000722592"	"00018047"	"50"	"315"	"0"	"315"	"0"	"c.315G>T"	"r.(?)"	"p.(Glu105Asp)"	""
"0000730056"	"00018047"	"90"	"1970"	"0"	"1970"	"0"	"c.1970G>A"	"r.(?)"	"p.(Arg657His)"	""
"0000804216"	"00018047"	"50"	"2684"	"0"	"2684"	"0"	"c.2684A>G"	"r.(?)"	"p.(Asp895Gly)"	""
"0000804217"	"00018047"	"50"	"1589"	"0"	"1589"	"0"	"c.1589G>A"	"r.(?)"	"p.(Arg530Gln)"	""
"0000804218"	"00018047"	"50"	"1117"	"0"	"1117"	"0"	"c.1117G>A"	"r.(?)"	"p.(Glu373Lys)"	""
"0000804219"	"00018047"	"50"	"808"	"0"	"808"	"0"	"c.808A>G"	"r.(?)"	"p.(Ile270Val)"	""
"0000804220"	"00018047"	"50"	"730"	"0"	"730"	"0"	"c.730C>T"	"r.(?)"	"p.(Arg244Trp)"	""
"0000827597"	"00018047"	"70"	"899"	"0"	"899"	"0"	"c.899G>T"	"r.(?)"	"p.(Cys300Phe)"	""
"0000827598"	"00018047"	"90"	"990"	"0"	"990"	"0"	"c.990del"	"r.(?)"	"p.(Thr331Profs*114)"	""
"0000827599"	"00018047"	"50"	"904"	"0"	"904"	"0"	"c.904C>T"	"r.(?)"	"p.(Arg302Cys)"	""
"0000827600"	"00018047"	"50"	"1970"	"0"	"1970"	"0"	"c.1970G>A"	"r.(?)"	"p.(Arg657His)"	""
"0000844561"	"00018047"	"70"	"323"	"0"	"323"	"0"	"c.323G>A"	"r.(?)"	"p.(Arg108Gln)"	""
"0000844562"	"00018047"	"70"	"323"	"0"	"323"	"0"	"c.323G>A"	"r.(?)"	"p.(Arg108Gln)"	""
"0000844563"	"00018047"	"90"	"355"	"0"	"355"	"0"	"c.355C>T"	"r.(?)"	"p.(Arg119Ter)"	""
"0000844564"	"00018047"	"90"	"613"	"0"	"613"	"0"	"c.613C>T"	"r.(?)"	"p.(Arg205Ter)"	""
"0000844566"	"00018047"	"90"	"717"	"0"	"717"	"0"	"c.717C>A"	"r.(?)"	"p.(Cys239Ter)"	""
"0000844567"	"00018047"	"90"	"675"	"0"	"675"	"0"	"c.675del"	"r.(?)"	"p.(Gln225HisfsTer220)"	""
"0000844568"	"00018047"	"50"	"2074"	"0"	"2074"	"0"	"c.2074C>A"	"r.(?)"	"p.(Pro692Thr)"	""
"0000844569"	"00018047"	"90"	"1516"	"0"	"1520"	"0"	"c.1516_1520delinsT"	"r.(?)"	"p.(Ile506Ter)"	""
"0000844570"	"00018047"	"50"	"1970"	"0"	"1970"	"0"	"c.1970G>A"	"r.(?)"	"p.(Arg657His)"	""
"0000844571"	"00018047"	"50"	"494"	"4"	"494"	"8"	"c.494+4_494+8del"	"r.spl?"	"p.?"	""
"0000844572"	"00018047"	"70"	"2"	"0"	"2"	"0"	"c.2T>G"	"r.(?)"	"p.(Met1?)"	""
"0000844573"	"00018047"	"90"	"79"	"0"	"80"	"0"	"c.79_80del"	"r.(?)"	"p.(Ser29ProfsTer5)"	""
"0000844574"	"00018047"	"50"	"1855"	"0"	"1855"	"0"	"c.1855C>A"	"r.(?)"	"p.(Arg619Ser)"	""
"0000844575"	"00018047"	"70"	"1096"	"0"	"1096"	"0"	"c.1096C>T"	"r.(?)"	"p.(Arg366Trp)"	""
"0000844576"	"00018047"	"50"	"623"	"-11"	"623"	"-11"	"c.623-11G>A"	"r.spl?"	"p.?"	""
"0000844577"	"00018047"	"50"	"623"	"-11"	"623"	"-11"	"c.623-11G>A"	"r.spl?"	"p.?"	""
"0000844578"	"00018047"	"50"	"2074"	"0"	"2074"	"0"	"c.2074C>A"	"r.(?)"	"p.(Pro692Thr)"	""
"0000844579"	"00018047"	"90"	"1083"	"0"	"1083"	"0"	"c.1083del"	"r.(?)"	"p.(His362ThrfsTer83)"	""
"0000844581"	"00018047"	"70"	"1100"	"0"	"1100"	"0"	"c.1100A>T"	"r.(?)"	"p.(Asn367Ile)"	""
"0000844582"	"00018047"	"90"	"1189"	"0"	"1189"	"0"	"c.1189C>T"	"r.(?)"	"p.(Arg397Ter)"	""
"0000844584"	"00018047"	"90"	""	"0"	""	"0"	"c.-199_*1066{0}"	"r.0"	"p.0"	"_1_9_"
"0000844585"	"00018047"	"50"	"2215"	"0"	"2215"	"0"	"c.2215T>C"	"r.(?)"	"p.(Phe739Leu)"	""
"0000844586"	"00018047"	"70"	"2207"	"0"	"2207"	"0"	"c.2207G>A"	"r.(?)"	"p.(Arg736Gln)"	""
"0000844587"	"00018047"	"90"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Ter)"	""
"0000844589"	"00018047"	"90"	"1189"	"0"	"1189"	"0"	"c.1189C>T"	"r.(?)"	"p.(Arg397Ter)"	""
"0000844590"	"00018047"	"90"	"574"	"0"	"574"	"0"	"c.574T>G"	"r.(?)"	"p.(Tyr192Asp)"	""
"0000844591"	"00018047"	"90"	"977"	"0"	"977"	"0"	"c.977G>C"	"r.(?)"	"p.(Gly326Ala)"	""
"0000844592"	"00018047"	"90"	"496"	"0"	"496"	"0"	"c.496G>C"	"r.(?)"	"p.(Asp166His)"	""
"0000844593"	"00018047"	"90"	"496"	"0"	"496"	"0"	"c.496G>C"	"r.(?)"	"p.(Asp166His)"	""
"0000844594"	"00018047"	"90"	"574"	"0"	"574"	"0"	"c.574T>G"	"r.(?)"	"p.(Tyr192Asp)"	""
"0000844595"	"00018047"	"90"	"574"	"0"	"574"	"0"	"c.574T>G"	"r.(?)"	"p.(Tyr192Asp)"	""
"0000844596"	"00018047"	"90"	"574"	"0"	"574"	"0"	"c.574T>G"	"r.(?)"	"p.(Tyr192Asp)"	""
"0000844597"	"00018047"	"90"	"2030"	"0"	"2030"	"0"	"c.2030C>T"	"r.(?)"	"p.(Ser677Phe)"	""
"0000844598"	"00018047"	"90"	"2030"	"0"	"2030"	"0"	"c.2030C>T"	"r.(?)"	"p.(Ser677Phe)"	""
"0000844599"	"00018047"	"90"	"2030"	"0"	"2030"	"0"	"c.2030C>T"	"r.(?)"	"p.(Ser677Phe)"	""
"0000844600"	"00018047"	"90"	"1583"	"0"	"1583"	"0"	"c.1583G>A"	"r.(?)"	"p.(Arg528Gln)"	""
"0000844601"	"00018047"	"70"	"1386"	"1"	"1386"	"1"	"c.1386+1G>A"	"r.spl"	"p.?"	"8i"
"0000844602"	"00018047"	"90"	"768"	"0"	"784"	"0"	"c.768_784dup"	"r.(?)"	"p.(Asp262Alafs*189)"	""
"0000844603"	"00018047"	"90"	"768"	"0"	"784"	"0"	"c.768_784dup"	"r.(?)"	"p.(Asp262Alafs*189)"	""
"0000844604"	"00018047"	"90"	"814"	"0"	"814"	"0"	"c.814C>T"	"r.(?)"	"p.(Arg272Cys)"	""
"0000844605"	"00018047"	"10"	"494"	"25"	"494"	"25"	"c.494+25G>A"	"r.(?)"	"p.(=)"	"4i"
"0000844606"	"00018047"	"10"	"938"	"-33"	"938"	"-33"	"c.938-33C>T"	"r.(?)"	"p.(=)"	"6i"
"0000844607"	"00018047"	"30"	"762"	"0"	"762"	"0"	"c.762C>T"	"r.(?)"	"p.(Asp254=)"	""
"0000844648"	"00018047"	"90"	"545"	"0"	"545"	"0"	"c.545G>A"	"r.(?)"	"p.(Cys182Tyr)"	""
"0000844649"	"00018047"	"90"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.(?)"	"p.(Gly76Asp)"	""
"0000844650"	"00018047"	"90"	"668"	"0"	"668"	"0"	"c.668G>A"	"r.(?)"	"p.(Cys223Tyr)"	""
"0000844651"	"00018047"	"90"	"622"	"762"	"1184"	"-1036"	"c.622+762_1184-1036del"	"r.(?)"	"p.(Ala208_Ser395delinsGly)"	"5i_7i"
"0000844655"	"00018047"	"70"	"1565"	"0"	"1569"	"0"	"c.1565_1569delinsTGTA"	"r.(?)"	"p.(Arg522LeufsTer2)"	""
"0000844656"	"00018047"	"70"	"323"	"0"	"323"	"0"	"c.323G>A"	"r.(?)"	"p.(Arg108Gln)"	""
"0000844659"	"00018047"	"90"	"904"	"0"	"904"	"0"	"c.904C>T"	"r.(?)"	"p.(Arg302Cys)"	""
"0000844660"	"00018047"	"90"	"613"	"0"	"613"	"0"	"c.613C>T"	"r.(?)"	"p.(Arg205*)"	""
"0000852332"	"00018047"	"50"	"1853"	"0"	"1853"	"0"	"c.1853C>T"	"r.(?)"	"p.(Thr618Ile)"	""
"0000852333"	"00018047"	"30"	"1300"	"0"	"1300"	"0"	"c.1300G>C"	"r.(?)"	"p.(Ala434Pro)"	""
"0000861756"	"00018047"	"30"	"2613"	"0"	"2613"	"0"	"c.2613A>C"	"r.(?)"	"p.(Thr871=)"	""
"0000861757"	"00018047"	"30"	"2395"	"0"	"2395"	"0"	"c.2395C>T"	"r.(?)"	"p.(Pro799Ser)"	""
"0000861758"	"00018047"	"30"	"2234"	"0"	"2234"	"0"	"c.2234G>A"	"r.(?)"	"p.(Arg745Gln)"	""
"0000861759"	"00018047"	"50"	"1736"	"0"	"1736"	"0"	"c.1736A>T"	"r.(?)"	"p.(Asp579Val)"	""
"0000861760"	"00018047"	"30"	"986"	"0"	"986"	"0"	"c.986G>A"	"r.(?)"	"p.(Ser329Asn)"	""
"0000861761"	"00018047"	"30"	"937"	"10"	"937"	"10"	"c.937+10C>T"	"r.(=)"	"p.(=)"	""
"0000872440"	"00018047"	"57"	"763"	"0"	"763"	"0"	"c.763G>A"	"r.(?)"	"p.(Glu255Lys)"	""
"0000888912"	"00018047"	"50"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Val821Ile)"	""
"0000888913"	"00018047"	"50"	"2297"	"0"	"2297"	"0"	"c.2297A>G"	"r.(?)"	"p.(Asn766Ser)"	""
"0000888914"	"00018047"	"30"	"1951"	"0"	"1951"	"0"	"c.1951A>G"	"r.(?)"	"p.(Asn651Asp)"	""
"0000888915"	"00018047"	"50"	"1913"	"0"	"1913"	"0"	"c.1913G>A"	"r.(?)"	"p.(Arg638Gln)"	""
"0000888916"	"00018047"	"30"	"1831"	"0"	"1831"	"0"	"c.1831G>A"	"r.(?)"	"p.(Val611Met)"	""
"0000888917"	"00018047"	"50"	"1702"	"0"	"1702"	"0"	"c.1702C>T"	"r.(?)"	"p.(Arg568Cys)"	""
"0000888918"	"00018047"	"50"	"1069"	"0"	"1069"	"0"	"c.1069G>C"	"r.(?)"	"p.(Glu357Gln)"	""
"0000888919"	"00018047"	"50"	"886"	"0"	"886"	"0"	"c.886G>T"	"r.(?)"	"p.(Asp296Tyr)"	""
"0000888920"	"00018047"	"50"	"594"	"0"	"594"	"0"	"c.594G>A"	"r.(?)"	"p.(Met198Ile)"	""
"0000913186"	"00018047"	"50"	"2333"	"0"	"2333"	"0"	"c.2333T>C"	"r.(?)"	"p.(Val778Ala)"	""
"0000913187"	"00018047"	"50"	"2065"	"0"	"2065"	"0"	"c.2065G>A"	"r.(?)"	"p.(Gly689Ser)"	""
"0000913188"	"00018047"	"50"	"1913"	"0"	"1913"	"0"	"c.1913G>A"	"r.(?)"	"p.(Arg638Gln)"	""
"0000913189"	"00018047"	"50"	"1802"	"0"	"1802"	"0"	"c.1802C>T"	"r.(?)"	"p.(Ala601Val)"	""
"0000920357"	"00018047"	"50"	"1742"	"0"	"1742"	"0"	"c.1742G>A"	"r.(?)"	"p.(Arg581His)"	"9"
"0000925078"	"00018047"	"30"	"2285"	"0"	"2285"	"0"	"c.2285C>T"	"r.(?)"	"p.(Ser762Leu)"	""
"0000949317"	"00018047"	"50"	"2684"	"0"	"2684"	"0"	"c.2684A>G"	"r.(?)"	"p.(Asp895Gly)"	""
"0000949318"	"00018047"	"30"	"1959"	"0"	"1959"	"0"	"c.1959G>A"	"r.(?)"	"p.(=)"	""
"0000949319"	"00018047"	"50"	"568"	"0"	"568"	"0"	"c.568A>G"	"r.(?)"	"p.(Thr190Ala)"	""
"0000949320"	"00018047"	"30"	"463"	"11"	"463"	"11"	"c.463+11C>A"	"r.(=)"	"p.(=)"	""
"0000949321"	"00018047"	"10"	"75"	"0"	"75"	"0"	"c.75G>A"	"r.(?)"	"p.(=)"	""
"0000965529"	"00018047"	"30"	"2083"	"0"	"2083"	"0"	"c.2083G>A"	"r.(?)"	"p.(Gly695Arg)"	""
"0000972051"	"00018047"	"77"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442*)"	"8"
"0000972053"	"00018047"	"77"	"1366"	"0"	"1366"	"0"	"c.1366dup"	"r.(?)"	"p.(Leu456Profs*3)"	"8"
"0000978797"	"00018047"	"50"	"2509"	"0"	"2509"	"0"	"c.2509T>G"	"r.(?)"	"p.(Phe837Val)"	""
"0000978798"	"00018047"	"50"	"2213"	"0"	"2213"	"0"	"c.2213G>A"	"r.(?)"	"p.(Arg738His)"	""
"0000978799"	"00018047"	"50"	"2014"	"0"	"2014"	"0"	"c.2014G>A"	"r.(?)"	"p.(Asp672Asn)"	""
"0000978800"	"00018047"	"50"	"1727"	"0"	"1727"	"0"	"c.1727G>C"	"r.(?)"	"p.(Ser576Thr)"	""
"0000978801"	"00018047"	"50"	"1709"	"0"	"1709"	"0"	"c.1709C>T"	"r.(?)"	"p.(Pro570Leu)"	""
"0000978802"	"00018047"	"50"	"1322"	"0"	"1322"	"0"	"c.1322G>A"	"r.(?)"	"p.(Arg441Gln)"	""
"0000978803"	"00018047"	"30"	"937"	"10"	"937"	"10"	"c.937+10C>T"	"r.(=)"	"p.(=)"	""
"0000978804"	"00018047"	"10"	"717"	"0"	"717"	"0"	"c.717C>T"	"r.(?)"	"p.(=)"	""
"0000978805"	"00018047"	"30"	"98"	"-75584"	"98"	"-75584"	"c.98-75584A>G"	"r.(=)"	"p.(=)"	""
"0000997990"	"00018047"	"30"	"2698"	"0"	"2698"	"0"	"c.2698G>A"	"r.(?)"	"p.(Ala900Thr)"	""
"0000997991"	"00018047"	"50"	"2300"	"0"	"2300"	"0"	"c.2300C>A"	"r.(?)"	"p.(Thr767Asn)"	""
"0000997992"	"00018047"	"50"	"1993"	"0"	"1993"	"0"	"c.1993A>G"	"r.(?)"	"p.(Met665Val)"	""
"0000997993"	"00018047"	"50"	"1583"	"0"	"1583"	"0"	"c.1583G>A"	"r.(?)"	"p.(Arg528Gln)"	""
"0000997994"	"00018047"	"50"	"794"	"0"	"794"	"0"	"c.794G>A"	"r.(?)"	"p.(Arg265His)"	""
"0000997995"	"00018047"	"50"	"206"	"0"	"206"	"0"	"c.206A>G"	"r.(?)"	"p.(Asn69Ser)"	""
"0001007523"	"00018047"	"70"	"417"	"0"	"417"	"0"	"c.417C>G"	"r.(?)"	"p.(Asn139Lys)"	""
"0001014568"	"00018047"	"30"	"2395"	"0"	"2395"	"0"	"c.2395C>T"	"r.(?)"	"p.(Pro799Ser)"	""
"0001014569"	"00018047"	"50"	"1970"	"0"	"1970"	"0"	"c.1970G>A"	"r.(?)"	"p.(Arg657His)"	""
"0001014570"	"00018047"	"50"	"1340"	"0"	"1340"	"0"	"c.1340C>T"	"r.(?)"	"p.(Ser447Leu)"	""
"0001014571"	"00018047"	"30"	"730"	"0"	"730"	"0"	"c.730C>T"	"r.(?)"	"p.(Arg244Trp)"	""
"0001014572"	"00018047"	"30"	"372"	"0"	"372"	"0"	"c.372C>T"	"r.(?)"	"p.(Asp124=)"	""
"0001037613"	"00018047"	"50"	"2632"	"0"	"2632"	"0"	"c.2632C>G"	"r.(?)"	"p.(Pro878Ala)"	""
"0001037614"	"00018047"	"50"	"2155"	"0"	"2155"	"0"	"c.2155G>A"	"r.(?)"	"p.(Ala719Thr)"	""
"0001037615"	"00018047"	"50"	"1875"	"0"	"1875"	"0"	"c.1875C>A"	"r.(?)"	"p.(Asp625Glu)"	""
"0001037616"	"00018047"	"30"	"1710"	"0"	"1710"	"0"	"c.1710G>A"	"r.(?)"	"p.(=)"	""
"0001037617"	"00018047"	"30"	"1686"	"0"	"1686"	"0"	"c.1686C>T"	"r.(?)"	"p.(=)"	""
"0001037618"	"00018047"	"50"	"1154"	"0"	"1154"	"0"	"c.1154G>A"	"r.(?)"	"p.(Arg385His)"	""
"0001037619"	"00018047"	"30"	"937"	"10"	"937"	"10"	"c.937+10C>T"	"r.(=)"	"p.(=)"	""
"0001037620"	"00018047"	"30"	"937"	"8"	"937"	"8"	"c.937+8C>T"	"r.(=)"	"p.(=)"	""
"0001037621"	"00018047"	"50"	"811"	"0"	"811"	"0"	"c.811G>A"	"r.(?)"	"p.(Ala271Thr)"	""
"0001037622"	"00018047"	"50"	"315"	"0"	"315"	"0"	"c.315G>T"	"r.(?)"	"p.(Glu105Asp)"	""
"0001037623"	"00018047"	"30"	"175"	"8419"	"175"	"8419"	"c.175+8419G>T"	"r.(=)"	"p.(=)"	""
"0001037624"	"00018047"	"10"	"75"	"0"	"75"	"0"	"c.75G>A"	"r.(?)"	"p.(=)"	""
"0001037625"	"00018047"	"30"	"47"	"0"	"47"	"0"	"c.47C>G"	"r.(?)"	"p.(Pro16Arg)"	""
"0001046214"	"00018047"	"10"	"717"	"0"	"717"	"0"	"c.717C>T"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 104
"{{screeningid}}"	"{{variantid}}"
"0000296058"	"0000652747"
"0000296059"	"0000652748"
"0000296060"	"0000652749"
"0000296061"	"0000652750"
"0000306384"	"0000670072"
"0000306385"	"0000670073"
"0000312982"	"0000694695"
"0000312983"	"0000694696"
"0000312984"	"0000694697"
"0000312985"	"0000694698"
"0000312986"	"0000694699"
"0000312987"	"0000694700"
"0000312987"	"0000694701"
"0000312988"	"0000694702"
"0000312989"	"0000694703"
"0000312989"	"0000694704"
"0000312990"	"0000694705"
"0000312991"	"0000694706"
"0000312992"	"0000694707"
"0000312993"	"0000694708"
"0000312994"	"0000694709"
"0000312995"	"0000694710"
"0000312996"	"0000694711"
"0000312997"	"0000694712"
"0000312998"	"0000694713"
"0000312999"	"0000694714"
"0000313000"	"0000694715"
"0000313001"	"0000694716"
"0000313002"	"0000694717"
"0000313003"	"0000694718"
"0000313004"	"0000694719"
"0000313005"	"0000694720"
"0000313006"	"0000694721"
"0000313007"	"0000694722"
"0000313008"	"0000694723"
"0000313009"	"0000694724"
"0000313010"	"0000694725"
"0000313011"	"0000694726"
"0000313012"	"0000694727"
"0000313012"	"0000694728"
"0000313013"	"0000694729"
"0000313014"	"0000694730"
"0000315125"	"0000697201"
"0000332774"	"0000730056"
"0000396035"	"0000827597"
"0000396035"	"0000827598"
"0000396036"	"0000827599"
"0000396036"	"0000827600"
"0000407776"	"0000844561"
"0000407777"	"0000844562"
"0000407778"	"0000844563"
"0000407779"	"0000844564"
"0000407779"	"0000844582"
"0000407781"	"0000844566"
"0000407782"	"0000844567"
"0000407783"	"0000844568"
"0000407784"	"0000844569"
"0000407785"	"0000844570"
"0000407785"	"0000844584"
"0000407786"	"0000844571"
"0000407787"	"0000844572"
"0000407788"	"0000844573"
"0000407789"	"0000844574"
"0000407789"	"0000844585"
"0000407790"	"0000844575"
"0000407790"	"0000844586"
"0000407791"	"0000844576"
"0000407792"	"0000844577"
"0000407793"	"0000844578"
"0000407794"	"0000844579"
"0000407794"	"0000844587"
"0000407796"	"0000844581"
"0000407796"	"0000844589"
"0000407797"	"0000844590"
"0000407798"	"0000844591"
"0000407799"	"0000844592"
"0000407800"	"0000844593"
"0000407801"	"0000844594"
"0000407802"	"0000844595"
"0000407803"	"0000844596"
"0000407804"	"0000844597"
"0000407805"	"0000844598"
"0000407806"	"0000844599"
"0000407807"	"0000844600"
"0000407808"	"0000844601"
"0000407809"	"0000844602"
"0000407810"	"0000844603"
"0000407811"	"0000844604"
"0000407811"	"0000844605"
"0000407811"	"0000844606"
"0000407811"	"0000844607"
"0000407841"	"0000844648"
"0000407842"	"0000844649"
"0000407843"	"0000844650"
"0000407844"	"0000844651"
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