### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = F12)
# 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}}"
"F12"	"coagulation factor XII (Hageman factor)"	"5"	"q33-qter"	"unknown"	"NC_000005.9"	"UD_132118649767"	""	"https://www.LOVD.nl/F12"	""	"1"	"3530"	"2161"	"610619"	"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"	"http://databases.lovd.nl/shared/refseq/F12_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2023-02-10 09:36:15"	"03256"	"2025-11-05 17:35:56"


## 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}}"
"00007349"	"F12"	"coagulation factor XII (Hageman factor)"	"001"	"NM_000505.3"	""	"NP_000496.2"	""	""	""	"-49"	"2002"	"1848"	"176836577"	"176829139"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 9
"{{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"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01177"	"HAE1;HAE2"	"angioedema, hereditary, type 1"	"AD;AR"	"106100"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2025-03-13 09:32:51"
"01256"	"FCAS1"	"autoinflammatory syndrome, cold, familial, type 1 (FCAS-1)"	"AD"	"120100"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01834"	"F12D"	"deficiency, factor XII"	"AR"	"234000"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2023-02-10 09:37:05"
"02963"	"HAE3"	"angioedema, hereditary, type 3"	"AD"	"610618"	""	""	""	"00006"	"2014-09-25 23:29:40"	"03256"	"2025-04-09 18:11:52"
"04282"	"CVI"	"cerebral visual impairment (CVI)"	""	""	""	""	""	"00006"	"2015-06-15 15:37:52"	"00006"	"2015-06-15 15:38:26"
"06980"	"HAE4"	"angioedema, hereditary, type 4"	"AD"	"619360"	""	""	""	"00006"	"2022-11-30 10:47:35"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"F12"	"01834"
"F12"	"02963"


## Individuals ## Do not remove or alter this header ##
## Count = 78
"{{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}}"
"00025011"	""	""	""	"1"	""	"01158"	"{PMID:Bosch 2015:25804403}, {DOI:Bosch 2015:10.1038/ejhg.2015.42}, {PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}"	""	"M"	"?"	"Netherlands"	""	"0"	""	""	"white"	"26350515-Pat12"
"00240473"	""	""	""	"3"	""	"03256"	"{PMID:Charignon 2018:29885370}, {DOI:Charignon 2018:10.1016/j.anai.2018.05.031}"	"2-generation family, 2 affected (2F)"	"F"	"no"	"France"	""	"0"	""	""	""	"FamPatIII1"
"00293823"	""	""	""	"15"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00308707"	""	""	""	"1"	""	"00004"	"{PMID:Le 2019:31180159}"	"analysis 305 unrelated individuals"	""	""	"Viet Nam"	""	"0"	""	""	""	""
"00385646"	""	""	""	"176"	""	"03256"	"{DOI:Veronez 2018:10.1016/j.jaip.2017.09.025} {DOI:Veronez 2021:10.1016/j.jaip.2020.11.039} {DOI:Gabriel 2025:10.3389/falgy.2022.846968}"	"Numerous Brazilian pedigrees have been recorded as carrying a c.1032C>A variant, with 94 families and 176 heterozygous carriers.\r\nIncomplete penetrance demonstrated in a family where 9/19 symptomatic individuals have been recorded.\r\nThe course of pregnancies in women diagnosed with HAE-nC1-INH has been described for 7 carriers of a F12 variant."	""	"no"	"Brazil"	""	"0"	""	""	""	""
"00385647"	""	""	""	"14"	""	"03256"	"{DOI:Grumach 2016:10.1111/all.12769}"	"Two Brazilian families are presenting with homozygous carriers of a c.983C>A variant, one male and one female"	""	""	"Brazil"	""	"0"	""	""	""	""
"00385689"	""	""	""	"7"	""	"03256"	"{DOI:Bork 2011:10.1016/j.clim.2011.07.002} {DOI:Bork 2014:10.1111/hae.12519} {DOI:Veronez 2018:10.1016/j.jaip.2017.09.025}"	"Four independent kindreds have been found as carrying a c.971_1018+24del variant\r\nFamilies 1 and 2, Germany, Turkish origin, with 4 affected female individuals\r\nFamily 3, Brazil (male individual; history of ACEi intake)\r\nFamily 4, Brazil (n=2)"	""	"no"	"Turkey"	""	"0"	""	""	""	""
"00385691"	""	""	""	"1"	""	"03256"	""	"A c.1768T>G;p.(Cys590Gly) variant has been found in a single nC1-INH-HAE German patient"	""	""	"Germany"	""	"0"	""	""	""	""
"00385692"	""	""	""	"23"	""	"03256"	""	"Nine independent Italian kindreds have been shown as carrying a c.983C>A variant, with 23/43 affected individuals, 32 females and 11 males"	""	""	"Italy"	""	"0"	""	""	""	""
"00385693"	""	""	""	"5"	""	"03256"	"{DOI:Kiss 2013:10.1016/j.clim.2013.08.001}"	"A Hungarian pedigree with 5 affected individuals, 3 female and 2 male"	"F"	"no"	"Hungary"	""	"0"	""	""	""	""
"00385695"	""	""	""	"8"	""	"03256"	"{DOI:Cichon 2006:10.1086/509899} {DOI:Björkvist 2015:10.1172/JCI77139} {DOI:de Maat 2016:10.1111/jth.13383}"	"A French pedigree with 8 affected individuals within 13 carriers of a c.983C>A variant"	""	""	"France"	""	"0"	""	""	""	""
"00385696"	""	""	""	"2"	""	"03256"	"{DOI:Dewald 2006: 10.1016/j.bbrc.2006.03.092}"	""	"F"	"no"	"Germany"	""	"0"	""	""	""	""
"00385697"	""	""	""	"19"	""	"03256"	"{DOI:Dewald 2006:10.1016/j.bbrc.2006.03.092}"	"Four independent German kindreds have been found as carrying a c.983C>A variant\r\nFamily 1, n=2\r\nFamily 2, n=5\r\nFamily 3, n=6\r\nFamily 4, n=6"	"F"	"no"	"Germany"	""	"0"	""	""	""	""
"00385743"	""	""	""	"1"	""	"03256"	""	"Single family"	"F"	"no"	"Australia"	""	"0"	""	""	""	""
"00385744"	""	""	""	"3"	""	"03256"	""	"Single family"	"F"	"no"	"Spain"	""	"0"	""	""	""	""
"00385745"	""	""	""	"6"	""	"03256"	""	"A single Canadian family with 6 symptomatic carriers of a c.983C>A variant"	"F"	"no"	"Canada"	""	"0"	""	""	""	""
"00385746"	""	""	""	"45"	""	"03256"	"{DOI:Bork 2009:10.1016/j.jaci.2009.03.038}"	"Additional 10 German pedigrees shown as carrying a c.983C>A variant\r\nFemale individuals are affected"	"F"	"no"	"Germany"	""	"0"	""	""	""	""
"00385765"	""	""	""	"3"	""	"03256"	""	"A French pedigree with affected man (n=1) and women (n=2)\r\nIncomplete penetrance: 3/7 are affected"	""	"no"	"France"	""	"0"	""	""	""	""
"00386104"	""	""	""	"24"	""	"03256"	"{DOI:Piñero-Saavedra 2016:10.1016/j.anai.2016.09.001}"	"Prospective Spanish cohort study with 9 families and 24 symptomatic individuals"	""	"no"	"Spain"	""	"0"	""	""	""	""
"00386105"	""	""	""	"8"	""	"03256"	"{DOI:Moreno 2015:10.1159/000376547}"	"Four Brazilian kindreds have been reported as carrying a c.983C>A variant, with 8/16 affected individuals"	""	"no"	"Brazil"	""	"0"	""	""	""	""
"00386368"	""	""	""	"15"	""	"03256"	"{DOI:Firinu 2015:10.1016/j.clim.2015.02.013}"	"Four Sardininan independent kindreds have been found as carrying a c.983C>A variant"	"F"	"no"	"Italy"	""	"0"	""	""	"Sardinian"	""
"00386369"	""	""	""	"1"	""	"03256"	"{DOI:Gelincik 2014:10.1016/j.anai.2014.11.018}"	"Single family"	"F"	"no"	"Turkey"	""	"0"	""	""	""	""
"00386370"	""	""	""	"1"	""	"03256"	"{DOI:Iijima 2011:10.1160/TH10-02-0123}"	"Symptomatic carrier with a defective prekallikrein cleavage activity"	"M"	""	"Japan"	""	"0"	""	""	""	""
"00386371"	""	""	""	"1"	""	"03256"	"{DOI:Gelincik 2014:10.1016/j.anai.2014.11.018}"	"Original single family with a male proband"	"M"	"no"	"Turkey"	""	"0"	""	""	""	""
"00386372"	""	""	""	"29"	""	"03256"	"{DOI:Marcos 2012:10.1016/j.anai.2012.05.022}"	"Thirteen kindreds from North-West Spain, with 29 affected individuals"	""	"no"	"Spain"	""	"0"	""	""	""	""
"00386373"	""	""	""	"3"	""	"03256"	"{DOI:Bork 2011:10.1016/j.clim.2011.07.002 }"	"Single family"	"F"	"no"	"Turkey"	""	"0"	""	""	""	""
"00386374"	""	""	""	"3"	""	"03256"	"{DOI:Baeza 2011:10.1111/j.1398-9995.2011.02562.x}"	"Single family"	"F"	"no"	"Morocco"	""	"0"	""	""	""	""
"00386375"	""	""	""	"5"	""	"03256"	"{DOI:Picone 2010:10.1155/2010/957507}"	"Symptoms and obstetrical complications of women in two families with HAE attributable to the c.983C>A variant in the F12 gene.\r\nFamily 1, n=2\r\nFamily 2, n=3"	"F"	""	"France"	""	"0"	""	""	""	""
"00386376"	""	""	""	"3"	""	"03256"	"{DOI:Nagy 2009:10.1016/j.jdermsci.2009.06.013}"	"The first British pedigree ever shown as carrying a c.983C>A variant, with 3 affected female individuals"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00386383"	""	""	""	"4"	""	"03256"	"{DOI:Hofman 2020:10.1074/jbc.RA119.009788} {DOI:Scheffel 2020:10.1038/s41467-019-13984-8}"	"A German family (n=4) presenting with urticarial and autoinflammatory syndrome"	"M"	""	"Germany"	""	"0"	""	""	""	""
"00386389"	""	""	""	"2"	""	"03256"	"{DOI:Veronez 2019:10.3389/fmed.2019.00028}"	"Single family"	"F"	"no"	"Spain"	""	"0"	""	""	""	""
"00386487"	""	""	""	"37"	""	"03256"	"{DOI:Deroux 2016:10.1111/cei.12820}"	"24 French pedigrees have been shown as carrying a c.983C>A variant"	""	"no"	"France"	""	"0"	""	""	""	""
"00386542"	""	""	""	"5"	""	"03256"	""	"A single German pedigree, with 5 affected carriers"	""	"no"	"Germany"	""	"0"	""	""	""	""
"00387933"	""	""	""	"1"	""	"03256"	"{DOI:Matsukuma 2011:10.1007/s10157-010-0375-z.}"	"Original single family with a male proband"	"M"	"no"	"Japan"	""	"0"	""	""	""	""
"00388296"	""	""	""	"3"	""	"03256"	"{DOI:Vatsiou 2018:[2]}"	"Two independent Spanish families with 3 affected female individuals"	"F"	"no"	"Spain"	""	"0"	""	""	""	""
"00412442"	""	""	""	"39"	""	"03256"	"{PMID:Corvillo 2020:33133137}, {DOI:Corvillo 2020:10.3389/fgene.2020.01033}"	"analysis disease expression in 39 Spanish HAE-FXII female index patients carrying the c.1032C>A (Thr328Lys) variant within F12 gene"	"F"	""	"Spain"	""	"0"	""	""	""	""
"00417698"	""	""	""	"4"	""	"03256"	"{DOI:Mendoza-Alvarez 2022:10.3389/fimmu.2022.997148}"	"3-generation family, 4 affected, father/3 daughters"	"F;M"	"no"	"Spain"	""	"0"	""	""	""	"Fam2"
"00427687"	""	""	""	"1"	""	"03256"	"{PMID:Chou 2022:35675023}, {DOI:Chou 2022:10.1007/s12185-022-03390-0}"	"2-generation family, 1 affected, unaffected heterozygous carrier in the children"	"F"	"no"	"Taiwan"	""	"0"	""	""	""	"FamII-CL"
"00427688"	""	""	""	"1"	""	"03256"	"{DOI:Chou 2022:10.1007/s12185-022-03390-0}"	"2-generation family, 1 affected, unaffected children"	"M"	"no"	"Taiwan"	""	"0"	""	""	""	"FamV-WT"
"00427689"	""	""	""	"1"	""	"03256"	"{PMID:Jiang 2022:36481867}, {DOI:Jiang 2022:10.1055/a-1962-1490}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	"China"	""	"0"	""	""	""	"patient"
"00427690"	""	""	""	"1"	""	"03256"	"{PMID:Chou 2022:35675023}, {DOI:Chou 2022:10.1007/s12185-022-03390-0}"	"2-generation family, 1 affected, unaffected heterozygous carriers in the family"	"F"	"no"	"Taiwan"	""	"0"	""	""	""	"FamI-CT"
"00427779"	""	""	""	"1"	""	"03256"	"{PMID:Chou 2022:35675023}, {DOI:Chou 2022:10.1007/s12185-022-03390-0}"	"2-generation family, 1 affected, unaffected heterozygous carriers in the children"	"F"	"no"	"Taiwan"	""	"0"	""	""	""	"FamIII-SY"
"00427780"	""	""	""	"1"	""	"03256"	"{PMID:Chou 2022:35675023}, {DOI:Chou 2022:10.1007/s12185-022-03390-0}"	"2-generation family, 1 affected, unaffected heterozygous carriers in the children"	"M"	""	"Taiwan"	""	"0"	""	""	""	"FamIV-CC"
"00430292"	""	""	""	"1"	""	"03256"	"{DOI:Demidova 2023:10.1007/s12185-023-03535-9}"	""	""	""	"Russia"	""	"0"	""	""	""	""
"00430293"	""	""	""	"1"	""	"03256"	"{DOI:Demidova 2023:10.1007/s12185-023-03535-9}"	""	""	""	"Russia"	""	"0"	""	""	""	""
"00430294"	""	""	""	"1"	""	"03256"	"{DOI:Demidova 2023:10.1007/s12185-023-03535-9}"	""	""	""	"Russia"	""	"0"	""	""	""	""
"00430299"	""	""	""	"1"	""	"03256"	"{DOI:Demidova 2023:10.1007/s12185-023-03535-9}"	""	"M"	""	"Russia"	""	"0"	""	""	""	""
"00430302"	""	""	""	"1"	""	"03256"	"{DOI:Demidova 2023:10.1007/s12185-023-03535-9}"	""	"F"	""	"Russia"	""	"0"	""	""	""	""
"00431294"	""	""	""	"1"	""	"03256"	"{DOI:Liu 2020:0.1080/16078454.2020.1859249}"	""	"M"	"yes"	"China"	""	"0"	""	""	""	""
"00433192"	""	""	""	"8"	""	"03256"	"{DOI:Hintze 2023:10.3389/fphys.2022.1090732}"	"A female proband carrying both variants PLG c.988A>G;p.(lys330Glu) and F12 c.1681-1G>A; 6 compound heterozygous affected individuals, 2 heterozygous affected individuals carrying a PLG variant"	"F"	""	"Germany"	""	"0"	""	""	""	""
"00436386"	""	""	""	"10"	""	"03256"	"{DOI:Bork 2023:10.1016/j.jaip.2023.01.051}"	"Ten independent families: 10 isolated HAE-nC1-INH individuals carrying a c.983C>A variant in F12 gene"	""	"no"	"Germany"	""	"0"	""	""	""	""
"00436424"	""	""	""	"6"	""	"03256"	"{DOI:Ji 2023:10.3760/cma.j.cn511374-20221102-00750}"	"A Chinese pedigree with a homozygous male proband presenting with a congentital Factor XII deficiency"	"M"	"yes"	"China"	""	"0"	""	""	""	""
"00436490"	""	""	""	"1"	""	"03256"	"{DOI:Wong 2010:10.1097/MBC.0b013e32833449df}"	""	"F"	""	"Korea"	""	"0"	""	""	""	""
"00436491"	""	""	""	"1"	""	"03256"	"{DOI:Wong 2010:10.1097/MBC.0b013e32833449df}"	""	"M"	""	"Korea"	""	"0"	""	""	""	""
"00436492"	""	""	""	"1"	""	"03256"	"{DOI:Wong 2010:10.1097/MBC.0b013e32833449df}"	""	"F"	""	"Korea"	""	"0"	""	""	""	""
"00443560"	""	""	""	"1"	""	"03256"	"{DOI:Cheng 2023:10.3760/cma.j.cn511374-20220829-00585}"	""	""	""	"China"	""	"0"	""	""	""	""
"00443866"	""	""	""	"1"	""	"03256"	"{DOI:Hentges 2009:10.1016/j.jaci.2008.10.056}"	"Single family with a single female affected individual"	"F"	"no"	"Luxembourg"	""	"0"	""	""	""	""
"00443867"	""	""	""	"5"	""	"03256"	"{DOI:Gomez-Traseira 2010:10.1016/j.jaci.2013.04.032}"	"Single family: Five affected individuals within 11 carriers"	"F"	"no"	"Spain"	""	"0"	""	""	""	""
"00443868"	""	""	""	"3"	""	"03256"	"{DOI:Mansi 2015:10.1111/joim.12304}"	"Three independent families, 3 affected individuals, presenting with a HAE-F12 phenotype"	""	"no"	"Italy"	""	"0"	""	""	""	""
"00443869"	""	""	""	"12"	""	"03256"	"{DOI:Stieber 2015:10.1111/bjd.13791}"	"First report of a Brazilian family and of 12 affected individuals presenting with a HAE-F12 phenotype"	""	"no"	"Brazil"	""	"0"	""	""	""	""
"00443870"	""	""	""	"4"	""	"03256"	"{DOI:Bork 2017:10.1111/all.13076}"	"One family with 4 affected individuals"	""	"no"	"Germany"	""	"0"	""	""	""	""
"00444160"	""	""	""	"1"	""	"03256"	"{DOI:Lochbaum 2023:10.1080/09546634.2023.2290362}"	"Clinical presentation: abdominal edema and edema of the limbs under estrogen intake"	"F"	"no"	"Germany"	""	"0"	""	""	""	""
"00444161"	""	""	""	"1"	""	"03256"	"{DOI:Lochbaum 2023:10.1080/09546634.2023.2290362}"	"Single family with a single affected female individual presenting with recurrent edema of the limbs, lips, face, abdomen, lasting approx. five days"	"F"	"no"	"Germany"	""	"0"	""	""	""	""
"00444382"	""	""	""	"1"	""	"03256"	"{DOI:Han 2015:10.1016/j.thromres.2015.06.012}"	""	"M"	"no"	"China"	""	"0"	""	""	""	""
"00444383"	""	""	""	"1"	""	"03256"	"{DOI:Han 2015:10.1016/j.thromres.2015.06.012}"	""	"M"	"no"	"China"	""	"0"	""	""	""	""
"00444384"	""	""	""	"1"	""	"03256"	"{DOI:Han 2015:10.1016/j.thromres.2015.06.012}"	""	"F"	"no"	"China"	""	"0"	""	""	""	""
"00444386"	""	""	""	"1"	""	"03256"	"{DOI:Kwon 2010:10.1097/MBC.0b013e32833449df}"	""	""	"no"	"Korea"	""	"0"	""	""	""	""
"00448052"	""	""	""	"38"	""	"03256"	"{DOI:Dias de Castro 2024:10.1016/j.anai.2024.01.027}"	"A population of 38 probands, presumably 38 families, has been shown as carrying a c.953C>A variant"	""	"no"	"Portugal"	""	"0"	""	""	""	""
"00452064"	""	""	""	"1"	""	"03256"	"{PMID:Wada 2003:12876626} {DOI:Aljabry 2024:10.1186/s13256-023-04238-9}"	"Two independent families have been shown as carrying a c.1515G>C variant in the F12 gene\r\nFamily 1, Saudi Arabia\r\nFamily 2, Japan"	"F"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	""
"00458259"	""	""	""	"2"	""	"03256"	"{DOI:Saddouk 2024:10.1016/j.ijoa.2024.104283}"	"Case report of HAE-FXII diagnosed during pregnancy with details on the management of recurring attacks in a resource-limited setting with no C1-INH concentrate availability."	"F"	"no"	"Morocco"	""	"0"	""	""	""	""
"00462235"	""	""	""	"1"	""	"03256"	"{DOI:Myiata 1989:10.1073/pnas.86.21.8319}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00464530"	""	""	""	"1"	""	"03256"	"{DOI:Lekhlit 2025:10.36347/sjmcr.2025.v13i03.005}"	"Single individual"	"F"	"no"	"Morocco"	""	"0"	""	""	""	""
"00465588"	""	""	""	"1"	""	"03256"	"{DOI:Veronez 2019:10.3389/fmed.2019.00080}"	"Single family"	"F"	"no"	"Brazil"	""	"0"	""	""	""	""
"00465621"	""	""	""	"12"	""	"03256"	"{DOI:Contreras-Verduzco 2023:10.1186/s13223-023-00845-9}"	"First description of a Mexican HAE-FXII family."	"F"	"no"	"Mexico"	""	"0"	""	""	""	""
"00466426"	""	""	""	"1"	""	"03256"	"{DOI:García Robledo 2025:10.1016/j.redare.2025.501732}"	"A single pregnant female individual suffering from HAE during labor induction"	"F"	"no"	"Spain"	""	"0"	""	""	""	""
"00467549"	""	""	""	"6"	""	"03256"	"{DOI:Ye 2023:10.3760/cma.j.cn511374-20220218-00113}"	""	"M"	"no"	"China"	""	"0"	""	""	""	""
"00467555"	""	""	""	"1"	""	"03256"	"{PMID:Hovinga 1994:8049433}"	"Dysfunctional coagulation factor XII (FXII) Locarno has been found in a Swiss family"	""	"no"	"Switzerland"	""	"0"	""	""	""	""
"00467997"	""	""	""	"1"	""	"03256"	"{DOI:Dias de Castro 2024:10.1016/j.anai.2024.01.027}"	""	"F"	"no"	"Portugal"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 79
"{{individualid}}"	"{{diseaseid}}"
"00025011"	"00139"
"00025011"	"04282"
"00240473"	"01177"
"00293823"	"00198"
"00308707"	"00000"
"00385646"	"02963"
"00385647"	"02963"
"00385689"	"02963"
"00385691"	"02963"
"00385692"	"02963"
"00385693"	"02963"
"00385695"	"02963"
"00385696"	"02963"
"00385697"	"02963"
"00385743"	"02963"
"00385744"	"02963"
"00385745"	"02963"
"00385746"	"02963"
"00385765"	"02963"
"00386104"	"02963"
"00386105"	"02963"
"00386368"	"02963"
"00386369"	"02963"
"00386370"	"00000"
"00386371"	"02963"
"00386372"	"02963"
"00386373"	"02963"
"00386374"	"02963"
"00386375"	"02963"
"00386376"	"02963"
"00386383"	"01256"
"00386389"	"02963"
"00386487"	"02963"
"00386542"	"01834"
"00387933"	"01834"
"00388296"	"02963"
"00412442"	"02963"
"00417698"	"02963"
"00427687"	"01834"
"00427688"	"01834"
"00427689"	"01834"
"00427690"	"01834"
"00427779"	"01834"
"00427780"	"01834"
"00430292"	"01834"
"00430293"	"01834"
"00430294"	"01834"
"00430299"	"01834"
"00430302"	"01834"
"00431294"	"01834"
"00433192"	"06980"
"00436386"	"02963"
"00436424"	"01834"
"00436490"	"01834"
"00436491"	"01834"
"00436492"	"01834"
"00443560"	"01834"
"00443866"	"02963"
"00443867"	"02963"
"00443868"	"02963"
"00443869"	"02963"
"00443870"	"02963"
"00444160"	"02963"
"00444161"	"02963"
"00444382"	"01834"
"00444383"	"01834"
"00444384"	"01834"
"00444386"	"01834"
"00448052"	"02963"
"00452064"	"01834"
"00458259"	"02963"
"00462235"	"01834"
"00464530"	"02963"
"00465588"	"02963"
"00465621"	"02963"
"00466426"	"02963"
"00467549"	"01834"
"00467555"	"01834"
"00467997"	"02963"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 01177, 01256, 01834, 02963, 04282, 06980
## Count = 75
"{{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}}"
"0000078841"	"04282"	"00025011"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000199839"	"01177"	"00240473"	"03256"	"Familial"	""	"Proband and her daughter presenting with a HAE type I phenotype, severe disease"	""	""	""	""	""	""	""	""	"HAE-1"	"angioedema"	""
"0000279441"	"02963"	"00385646"	"03256"	"Familial"	""	"Probands presenting with a HAE-F12 phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000279442"	"02963"	"00385647"	"03256"	"Familial"	""	"Probands presenting with a HAE-F12 phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000279484"	"02963"	"00385689"	"03256"	"Familial"	""	"Probands presenting with a HAE-F12 phenotype, with incomplete penetrance"	""	""	""	""	""	""	""	""	""	""	""
"0000279506"	"02963"	"00385691"	"03256"	"Unknown"	""	"Proband presenting with recurrent angioedema of unclear origin"	""	""	""	""	""	""	""	""	""	""	""
"0000279507"	"02963"	"00385692"	"03256"	"Familial"	""	"Probands presenting with a HAE-F12 phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000279508"	"02963"	"00385693"	"03256"	"Familial"	""	"Female proband presenting with a HAE-F12 phenotype"	""	"37y"	""	""	""	""	""	""	""	""	""
"0000279510"	"02963"	"00385695"	"03256"	"Familial"	""	"Proband presenting with a HAE-F12 phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000279511"	"02963"	"00385696"	"03256"	"Familial"	""	"Proband presenting with a HAE-F12 phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000279556"	"02963"	"00385743"	"03256"	"Familial"	""	"Proband presenting with a HAE-F12 phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000279557"	"02963"	"00385744"	"03256"	"Familial"	""	"Female proband presenting with a HAE-F12 phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000279558"	"02963"	"00385745"	"03256"	"Familial"	""	"Female proband presenting with a HAE-F12 phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000279559"	"02963"	"00385746"	"03256"	"Familial"	""	"Probands presenting with a HAE-F12 phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000279578"	"02963"	"00385765"	"03256"	"Familial"	""	"Proband presenting with a HAE-F12 phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000279907"	"02963"	"00386104"	"03256"	"Familial"	""	"Female probands presenting with oestrogen-dependent and oestrogen-sensitive HAE-FXII phenotype.\r\n72% of male carriers of the c.983C>A variant have been found asymptomatic."	""	""	""	""	""	""	""	""	""	""	""
"0000279908"	"02963"	"00386105"	"03256"	"Familial"	""	"Female probands presenting with a HAE-FXII phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000280166"	"02963"	"00386368"	"03256"	"Familial"	""	"Female probands all presenting with a HAE-FXII phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000280168"	"02963"	"00386369"	"03256"	"Isolated (sporadic)"	""	"A female individual presenting with a HAE-FXII phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000280169"	"00000"	"00386370"	"03256"	"Familial"	""	"No clinical phenotype of the carrier and his father"	""	""	""	""	""	""	""	""	""	""	""
"0000280179"	"02963"	"00386371"	"03256"	"Familial"	""	"Male proband presenting with a HAE-FXII phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000280180"	"02963"	"00386372"	"03256"	"Familial"	""	"Probands presenting with a HAE-FXII phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000280181"	"02963"	"00386373"	"03256"	"Familial"	""	"Female proband presenting with a HAE-FXII phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000280182"	"02963"	"00386374"	"03256"	"Familial"	""	"Female proband presenting with a HAE-FXII phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000280183"	"02963"	"00386375"	"03256"	"Familial"	""	"Female probands presenting a HAE-FXII phenotype with severe obstetrical complications"	""	""	""	""	""	""	""	""	""	""	""
"0000280184"	"02963"	"00386376"	"03256"	"Familial"	""	"Female proband presening with a HAE-FXII phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000280191"	"01256"	"00386383"	"03256"	"Familial"	""	"Autoinflammatory syndrome characterized by cold-inducible urticaria, arthralgia, fever,and fatigue"	""	""	""	""	""	""	""	""	""	""	""
"0000280197"	"02963"	"00386389"	"03256"	"Familial"	""	"Female proband presenting with a HAE-FXII phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000280294"	"02963"	"00386487"	"03256"	"Familial"	""	"Probands presenting with a HAE-FXII phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000280342"	"01834"	"00386542"	"03256"	"Familial"	""	"Thrombotic complications and heart infarction"	""	""	""	""	""	""	""	""	""	""	""
"0000281502"	"01834"	"00387933"	"03256"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000281849"	"02963"	"00388296"	"03256"	"Familial"	""	"Proband presenting with 5 to 6 angioedema attacks per month located in the face"	""	"12y"	""	""	""	""	""	""	""	""	""
"0000304447"	"02963"	"00412442"	"03256"	"Familial"	""	"Hereditary angioedema; Disease modifier in patients with hereditary angioedema due to the FXII p.(Thr328Lys) variant"	""	""	""	""	""	""	""	""	""	""	""
"0000309114"	"02963"	"00417698"	"03256"	"Familial"	""	"Proband presenting with a nlC1-INH-HAE phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000318701"	"01834"	"00427687"	"03256"	"Familial, autosomal recessive"	""	"Prolonged aPTT, persistently undetectable FXII function and normal PT: detected for tooth extractions, laparoscopic cholecystectomy, breast tumor excision, extracorporeal shockwave lithotomy"	""	""	""	""	""	""	""	""	"F12D"	""	""
"0000318702"	"01834"	"00427688"	"03256"	"Familial, autosomal recessive"	""	"Proband without any bleeding disorder; prolonged aPTT detected in a patient with a prostatectomy"	""	"71y"	""	""	""	""	""	""	"F12D"	""	""
"0000318703"	"01834"	"00427689"	"03256"	"Familial"	"27y"	"Proband presenting with thrombus in the inferior vena cava and common iliac as shown by lower limb venography."	""	""	""	""	""	""	""	""	""	""	""
"0000318704"	"01834"	"00427690"	"03256"	"Familial, autosomal recessive"	""	"Proband without any bleeding disorder; prolonged aPTT discovered in a patient for a liver biopsy"	""	"55y"	""	""	""	""	""	""	"F12D"	""	""
"0000318755"	"01834"	"00427779"	"03256"	"Familial, autosomal recessive"	""	"Prolonged aPTT, persistently undetectable FXII function, normal PT: detected for tooth extractions, laparoscopic cholecystectomy, breast tumor excision, extracorporeal shockwave lithotomy"	""	""	""	""	""	""	""	""	"F12D"	""	""
"0000318756"	"01834"	"00427780"	"03256"	"Familial, autosomal recessive"	""	"Prolonged aPTT, persistently undetectable FXII function and normal PT: tooth extractions, laparoscopic cholecystectomy, breast tumor excision, extracorporeal shockwave lithotomy"	""	"48y"	""	""	""	""	""	""	"F12D"	""	""
"0000321100"	"01834"	"00430292"	"03256"	"Familial"	""	"Proband presenting with mild haemorrhagic manifestations"	""	""	""	""	""	""	""	""	""	""	""
"0000321101"	"01834"	"00430293"	"03256"	"Familial"	""	"Proband presenting with mild haemorrhagic manifestations"	""	""	""	""	""	""	""	""	""	""	""
"0000321102"	"01834"	"00430294"	"03256"	"Familial"	""	"Proband presenting with haemorrhagic manifestations"	""	""	""	""	""	""	""	""	""	""	""
"0000321113"	"01834"	"00430299"	"03256"	"Familial"	""	"Homozygous proband presenting with haemorrhage complications"	""	""	""	""	""	""	""	""	"21y"	""	""
"0000321115"	"01834"	"00430302"	"03256"	"Familial"	""	"Homozygous proband presenting with haemorrhage complications"	""	""	""	""	""	""	""	""	"60y"	""	""
"0000321894"	"01834"	"00431294"	"03256"	"Familial"	""	"Homozygous proband presenting with a prolonged aPTT"	""	"58y"	""	""	""	""	""	""	""	""	""
"0000323724"	"06980"	"00433192"	"03256"	"Familial"	""	"Proband presenting with a bradykinin-dependent HAE phenotype"	""	"68y"	""	""	""	""	""	""	""	""	""
"0000326566"	"02963"	"00436386"	"03256"	"Familial"	""	"Chronic recurrent angioedema without wheals with normal C1 inhibitor (C1-INH) that is unresponsive to H1-antihistamines"	""	""	""	""	""	""	""	""	""	""	""
"0000326603"	"01834"	"00436424"	"03256"	"Familial, autosomal recessive"	""	"Homozygous proband presenting with significantly prolonged activated partial thromboplastin time (APTT), an extremely reduced FXII activity (FXII:C) and antigenic FXII (FXII:Ag)."	""	"51y"	""	""	""	""	""	""	""	""	""
"0000326668"	"01834"	"00436490"	"03256"	"Familial"	""	"A compound heterozygote proband presenting with a prolonged aPPT; congenital heart anomaly"	""	"04y"	""	""	""	""	""	""	""	""	""
"0000326669"	"01834"	"00436491"	"03256"	"Familial"	""	"A homozygous proband presenting with a prolonged aPTT; anal fistula"	""	"50y"	""	""	""	""	""	""	""	""	""
"0000326670"	"01834"	"00436492"	"03256"	"Familial"	""	"A compound heterozygous proband presenting with a prolonged aPTT; pituitary macroadenoma"	""	"53y"	""	""	""	""	""	""	""	""	""
"0000332876"	"01834"	"00443560"	"03256"	"Familial"	""	"Proband presenting with a prolonged aPTT"	""	""	""	""	""	""	""	""	""	""	""
"0000333142"	"02963"	"00443866"	"03256"	"Familial"	""	"Proband as single affected individual and presenting with HAE-F12 phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000333143"	"02963"	"00443867"	"03256"	"Familial"	""	"Female proband presenting with a HAE-F12 phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000333145"	"02963"	"00443868"	"03256"	"Familial"	""	"Female probands presenting with a HAE-F12 phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000333146"	"02963"	"00443869"	"03256"	"Familial"	""	"Proband presenting with a HAE-F12 phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000333147"	"02963"	"00443870"	"03256"	"Familial"	""	"Proband presenting with a HAE-F12 phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000333414"	"02963"	"00444160"	"03256"	"Familial"	""	"A female individual presenting with a HAE-F12"	"16y"	""	""	""	""	""	""	""	""	""	""
"0000333415"	"02963"	"00444161"	"03256"	"Familial"	""	"A female individual presenting with a HAE-F12 phenotype"	"16y"	""	""	""	""	""	""	""	""	""	""
"0000333635"	"01834"	"00444382"	"03256"	"Familial"	""	"Proband presenting with a prolonged aPTT"	""	"68y"	""	""	""	""	""	""	""	""	""
"0000333636"	"01834"	"00444383"	"03256"	"Familial"	""	"Proband presenting with a prolonged aPTT"	""	"52y"	""	""	""	""	""	""	""	""	""
"0000333637"	"01834"	"00444384"	"03256"	"Familial"	""	"Proband presenting with a prolonged aPTT"	""	"43y"	""	""	""	""	""	""	""	""	""
"0000333639"	"01834"	"00444386"	"03256"	"Familial"	""	"Proband presenting with a prolonged aPTT"	""	""	""	""	""	""	""	""	""	""	""
"0000337241"	"02963"	"00448052"	"03256"	"Familial"	""	"Probands presenting with HAE-FXII phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000340668"	"01834"	"00452064"	"03256"	"Familial, autosomal recessive"	"36y"	"Proband presenting with a significantly prolonged aPTT; no history of bleeding episodes during the previous deliveries nor any tooth extractions"	""	""	""	""	""	""	""	""	""	""	""
"0000346695"	"02963"	"00458259"	"03256"	"Familial"	""	"Proband presenting with HAE-FXII phenotype: severe abdominal pain, intermittent edema in her hands, feet, and eyelids. The symptoms were unresponsive to antihistamines and corticosteroids."	""	"27y"	""	""	""	""	""	""	""	""	""
"0000349735"	"01834"	"00462235"	"03256"	"Familial"	""	"Proband presenting with Hageman trait and prolonged aPTT"	""	""	""	""	""	""	""	""	""	""	""
"0000350529"	"02963"	"00464530"	"03256"	"Familial"	""	"An affected female individual with symptoms triggered by pregnancy"	"33y"	""	""	""	""	""	""	""	""	""	""
"0000351136"	"02963"	"00465588"	"03256"	"Familial"	""	"Proband presenting with angioedema attacks since 16 years of age and pancreatitis"	""	""	""	""	""	""	""	""	""	""	""
"0000351164"	"02963"	"00465621"	"03256"	"Familial"	""	"Proband presenting with a HAE-FXII phenotype, including laryngeal edema. The attacks increase after the placement of a contraceptive subdermal implant.\r\nOne male carrier is asymptomatic."	"20y"	"47y"	""	""	""	""	""	""	""	""	""
"0000351791"	"02963"	"00466426"	"03256"	"Familial"	""	"HAE phenotype during labor induction"	""	""	""	""	""	""	""	""	""	""	""
"0000352759"	"01834"	"00467549"	"03256"	"Familial"	""	"Proband presenting with a significantly prolonged APTT (180.0 s) and a decreased FⅫ:C and FⅫ:Ag levels (<1%)"	""	"47y"	""	""	""	""	""	""	""	""	""
"0000352762"	"01834"	"00467555"	"03256"	"Familial"	""	"Proband presenting with a prolonged aPTT"	""	""	""	""	""	""	""	""	""	""	""
"0000353149"	"02963"	"00467997"	"03256"	"Familial"	""	"Proband presenting with a HAE-nC1INH phenotype"	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 80
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000025012"	"00025011"	"1"	"01158"	"01158"	"2014-12-02 15:58:57"	""	""	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000241582"	"00240473"	"1"	"00006"	"00006"	"2019-06-21 09:31:30"	""	""	"SEQ"	"DNA"	""	""
"0000294991"	"00293823"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000309852"	"00308707"	"1"	"00004"	"00006"	"2020-08-27 15:56:29"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"105 WGS/200 WES"
"0000386875"	"00385646"	"1"	"03256"	"03256"	"2021-10-13 12:10:09"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386876"	"00385647"	"1"	"03256"	"03256"	"2021-10-13 12:28:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386919"	"00385689"	"1"	"03256"	"03256"	"2021-10-13 14:50:36"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386920"	"00385691"	"1"	"03256"	"03256"	"2021-10-13 16:27:58"	""	""	"SEQ-NG-IT"	"DNA"	"blood"	""
"0000386921"	"00385692"	"1"	"03256"	"03256"	"2021-10-13 18:39:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386922"	"00385693"	"1"	"03256"	"03256"	"2021-10-13 19:28:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386923"	"00385695"	"1"	"03256"	"03256"	"2021-10-14 12:21:50"	""	""	"SEQ"	"DNA"	""	""
"0000386924"	"00385696"	"1"	"03256"	"03256"	"2021-10-14 12:42:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386925"	"00385697"	"1"	"03256"	"03256"	"2021-10-14 12:52:26"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386971"	"00385743"	"1"	"03256"	"03256"	"2021-10-14 17:19:48"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386972"	"00385744"	"1"	"03256"	"03256"	"2021-10-14 17:26:38"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386973"	"00385745"	"1"	"03256"	"03256"	"2021-10-14 17:33:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386974"	"00385746"	"1"	"03256"	"03256"	"2021-10-14 17:45:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386993"	"00385765"	"1"	"03256"	"03256"	"2021-10-14 22:21:05"	""	""	"SEQ"	"DNA"	"blood"	""
"0000387333"	"00386104"	"1"	"03256"	"03256"	"2021-10-20 11:10:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000387334"	"00386105"	"1"	"03256"	"03256"	"2021-10-20 11:34:30"	""	""	"SEQ"	"DNA"	"blood"	""
"0000387597"	"00386368"	"1"	"03256"	"03256"	"2021-10-21 12:24:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000387598"	"00386369"	"1"	"03256"	"03256"	"2021-10-21 12:41:30"	""	""	"SEQ"	"DNA"	"blood"	""
"0000387599"	"00386370"	"1"	"03256"	"03256"	"2021-10-21 12:52:44"	""	""	"SEQ"	"DNA"	"blood"	""
"0000387600"	"00386371"	"1"	"03256"	"03256"	"2021-10-21 16:28:22"	""	""	"SEQ"	"DNA"	"blood"	""
"0000387601"	"00386372"	"1"	"03256"	"03256"	"2021-10-21 17:04:21"	""	""	"SEQ"	"DNA"	"blood"	""
"0000387602"	"00386373"	"1"	"03256"	"03256"	"2021-10-21 17:12:07"	""	""	"SEQ"	"DNA"	"blood"	""
"0000387603"	"00386374"	"1"	"03256"	"03256"	"2021-10-21 17:18:55"	""	""	"SEQ"	"DNA"	"blood"	""
"0000387604"	"00386375"	"1"	"03256"	"03256"	"2021-10-21 17:26:24"	""	""	"SEQ"	"DNA"	"blood"	""
"0000387605"	"00386376"	"1"	"03256"	"03256"	"2021-10-21 17:37:55"	""	""	"SEQ"	"DNA"	"blood"	""
"0000387611"	"00386383"	"1"	"03256"	"03256"	"2021-10-22 11:25:38"	""	""	"SEQ"	"DNA"	"blood"	""
"0000387617"	"00386389"	"1"	"03256"	"03256"	"2021-10-22 12:21:06"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000387715"	"00386487"	"1"	"03256"	"03256"	"2021-10-22 17:22:05"	""	""	"SEQ"	"DNA"	"blood"	""
"0000387770"	"00386542"	"1"	"03256"	"03256"	"2021-10-25 15:55:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000389167"	"00387933"	"1"	"03256"	"03256"	"2021-10-31 17:36:53"	""	""	"SEQ"	"DNA"	""	""
"0000389537"	"00388296"	"1"	"03256"	"03256"	"2021-11-03 17:20:23"	""	""	"SEQ-NG-IT"	"DNA"	"blood"	""
"0000413714"	"00412442"	"1"	"03256"	"03256"	"2022-06-28 17:31:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000418992"	"00417698"	"1"	"03256"	"03256"	"2022-09-22 16:38:26"	""	""	"SEQ"	"DNA"	"blood"	""
"0000429010"	"00427687"	"1"	"03256"	"03256"	"2022-12-12 16:10:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000429011"	"00427688"	"1"	"03256"	"03256"	"2022-12-12 16:32:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000429012"	"00427689"	"1"	"03256"	"03256"	"2022-12-12 16:51:39"	""	""	"SEQ"	"DNA"	"blood"	""
"0000429013"	"00427690"	"1"	"03256"	"03256"	"2022-12-12 17:10:52"	""	""	"SEQ"	"DNA"	"blood"	""
"0000429102"	"00427779"	"1"	"03256"	"03256"	"2022-12-12 16:10:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000429103"	"00427780"	"1"	"03256"	"03256"	"2022-12-12 16:10:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000431706"	"00430292"	"1"	"03256"	"03256"	"2023-01-17 09:33:40"	""	""	"?"	"DNA"	"blood"	""
"0000431707"	"00430293"	"1"	"03256"	"03256"	"2023-01-17 09:40:37"	""	""	"?"	"DNA"	"blood"	""
"0000431708"	"00430294"	"1"	"03256"	"03256"	"2023-01-17 09:47:03"	""	""	"?"	"DNA"	"blood"	""
"0000431715"	"00430299"	"1"	"03256"	"03256"	"2023-01-17 12:11:05"	""	""	"?"	"DNA"	"blood"	""
"0000431717"	"00430302"	"1"	"03256"	"03256"	"2023-01-17 12:21:18"	""	""	"SEQ"	"DNA"	"blood"	""
"0000432706"	"00431294"	"1"	"03256"	"03256"	"2023-02-07 11:43:39"	""	""	"SEQ"	"DNA"	"blood"	""
"0000434646"	"00433192"	"1"	"03256"	"03256"	"2023-03-03 11:58:51"	""	""	"SEQ"	"DNA"	"blood"	""
"0000437869"	"00436386"	"1"	"03256"	"03256"	"2023-09-06 10:56:39"	""	""	"SEQ"	"DNA"	"blood"	""
"0000437908"	"00436424"	"1"	"03256"	"03256"	"2023-09-15 14:24:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000437974"	"00436490"	"1"	"03256"	"03256"	"2023-09-18 16:45:42"	""	""	"SEQ"	"DNA"	"blood"	""
"0000437975"	"00436491"	"1"	"03256"	"03256"	"2023-09-18 16:57:12"	""	""	"SEQ"	"DNA"	"blood"	""
"0000437976"	"00436492"	"1"	"03256"	"03256"	"2023-09-18 17:05:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000445053"	"00443560"	"1"	"03256"	"03256"	"2023-11-29 09:04:56"	""	""	"SEQ"	"DNA"	"blood"	""
"0000445363"	"00443866"	"1"	"03256"	"03256"	"2023-12-04 15:55:24"	""	""	"SEQ"	"DNA"	"blood"	""
"0000445364"	"00443867"	"1"	"03256"	"03256"	"2023-12-04 16:17:35"	""	""	"SEQ"	"DNA"	"blood"	""
"0000445365"	"00443868"	"1"	"03256"	"03256"	"2023-12-04 16:29:39"	""	""	"SEQ"	"DNA"	"blood"	""
"0000445366"	"00443869"	"1"	"03256"	"03256"	"2023-12-04 16:35:24"	""	""	"SEQ"	"DNA"	"blood"	""
"0000445367"	"00443870"	"1"	"03256"	"03256"	"2023-12-04 17:01:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000445658"	"00444160"	"1"	"03256"	"03256"	"2023-12-19 17:32:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000445659"	"00444161"	"1"	"03256"	"03256"	"2023-12-19 17:40:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000445950"	"00444382"	"1"	"03256"	"03256"	"2023-12-23 18:24:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000445951"	"00444383"	"1"	"03256"	"03256"	"2023-12-23 18:30:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000445952"	"00444384"	"1"	"03256"	"03256"	"2023-12-23 18:42:56"	""	""	"SEQ"	"DNA"	"blood"	""
"0000445954"	"00444386"	"1"	"03256"	"03256"	"2023-12-23 20:30:06"	""	""	"SEQ"	"DNA"	"blood"	""
"0000449625"	"00448052"	"1"	"03256"	"03256"	"2024-02-13 07:51:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000453666"	"00452064"	"1"	"03256"	"03256"	"2024-07-08 10:15:23"	""	""	"SEQ"	"DNA"	"blood"	""
"0000459881"	"00458259"	"1"	"03256"	"03256"	"2024-12-11 14:25:33"	""	""	"SEQ"	"DNA"	""	""
"0000463867"	"00462235"	"1"	"03256"	"03256"	"2025-02-05 12:30:45"	""	""	"SEQ"	"DNA"	"blood"	""
"0000466168"	"00464530"	"1"	"03256"	"03256"	"2025-03-24 15:00:28"	""	""	"SEQ"	"DNA"	""	""
"0000467237"	"00465588"	"1"	"03256"	"03256"	"2025-05-20 16:41:16"	""	""	"SEQ"	"DNA"	""	""
"0000467269"	"00465621"	"1"	"03256"	"03256"	"2025-05-28 14:15:49"	""	""	"SEQ"	"DNA"	""	""
"0000467728"	"00385693"	"1"	"03256"	"03256"	"2025-07-25 17:36:35"	""	""	"SEQ"	"DNA"	""	""
"0000468089"	"00466426"	"1"	"03256"	"03256"	"2025-09-01 14:26:12"	""	""	"SEQ"	"DNA"	""	""
"0000469212"	"00467549"	"1"	"03256"	"03256"	"2025-10-16 15:11:46"	""	""	"?"	"DNA"	""	""
"0000469213"	"00467549"	"1"	"03256"	"03256"	"2025-10-16 15:28:15"	""	""	"?"	"DNA"	""	""
"0000469219"	"00467555"	"1"	"03256"	"03256"	"2025-10-20 19:15:52"	""	""	"SEQ"	"DNA"	""	""
"0000469663"	"00467997"	"1"	"03256"	"03256"	"2025-11-05 17:32:51"	""	""	"SEQ"	"DNA"	"blood"	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 79
"{{screeningid}}"	"{{geneid}}"
"0000241582"	"F12"
"0000241582"	"SERPING1"
"0000309852"	"F12"
"0000386875"	"F12"
"0000386876"	"F12"
"0000386919"	"F12"
"0000386920"	"F12"
"0000386921"	"F12"
"0000386922"	"F12"
"0000386923"	"F12"
"0000386924"	"F12"
"0000386925"	"F12"
"0000386971"	"F12"
"0000386972"	"F12"
"0000386973"	"F12"
"0000386974"	"F12"
"0000386993"	"F12"
"0000387333"	"F12"
"0000387334"	"F12"
"0000387597"	"F12"
"0000387598"	"F12"
"0000387599"	"F12"
"0000387600"	"F12"
"0000387601"	"F12"
"0000387602"	"F12"
"0000387603"	"F12"
"0000387604"	"F12"
"0000387605"	"F12"
"0000387611"	"F12"
"0000387617"	"F12"
"0000387715"	"F12"
"0000387770"	"F12"
"0000389167"	"F12"
"0000389537"	"F12"
"0000413714"	"F12"
"0000418992"	"F12"
"0000429010"	"F12"
"0000429011"	"F12"
"0000429012"	"F12"
"0000429013"	"F12"
"0000429102"	"F12"
"0000429103"	"F12"
"0000431706"	"F12"
"0000431707"	"F12"
"0000431708"	"F12"
"0000431715"	"F12"
"0000431717"	"F12"
"0000432706"	"F12"
"0000434646"	"PLG"
"0000437869"	"F12"
"0000437908"	"F12"
"0000437974"	"F12"
"0000437975"	"F12"
"0000437976"	"F12"
"0000445053"	"F12"
"0000445363"	"F12"
"0000445364"	"F12"
"0000445365"	"F12"
"0000445366"	"F12"
"0000445367"	"F12"
"0000445658"	"F12"
"0000445659"	"F12"
"0000445950"	"F12"
"0000445951"	"F12"
"0000445952"	"F12"
"0000445954"	"F12"
"0000449625"	"F12"
"0000453666"	"F12"
"0000459881"	"F12"
"0000463867"	"F12"
"0000466168"	"F12"
"0000467237"	"F12"
"0000467269"	"F12"
"0000467728"	"F12"
"0000468089"	"F12"
"0000469212"	"F12"
"0000469213"	"F12"
"0000469219"	"F12"
"0000469663"	"F12"


## 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 = 143
"{{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}}"
"0000047869"	"11"	"50"	"5"	"176831388"	"176831388"	"subst"	"0"	"01158"	"F12_000001"	"g.176831388C>T"	""	"{PMID:Bosch 2015:25804403}, {DOI:Bosch 2015:10.1038/ejhg.2015.42}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.177404387C>T"	""	"VUS"	""
"0000249066"	"0"	"10"	"5"	"176836532"	"176836532"	"subst"	"0.653395"	"02325"	"F12_000010"	"g.176836532A>G"	""	""	""	"F12(NM_000505.4):c.-4T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177409531A>G"	""	"benign"	""
"0000267941"	"0"	"10"	"5"	"176831186"	"176831186"	"del"	"0"	"02325"	"F12_000004"	"g.176831186del"	""	""	""	"F12(NM_000505.4):c.1018+19delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177404185del"	""	"benign"	""
"0000267942"	"0"	"10"	"5"	"176830627"	"176830627"	"subst"	"0.518421"	"02325"	"F12_000002"	"g.176830627G>A"	""	""	""	"F12(NM_000505.4):c.1251-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177403626G>A"	""	"benign"	""
"0000267943"	"0"	"10"	"5"	"176831826"	"176831826"	"subst"	"0.949337"	"02325"	"F12_000005"	"g.176831826C>G"	"0.034661"	"{DOI:Pechnikova 2023:10.21203/rs.3.rs-3382724/v1} {DOI:Shamanaev 2025:10.1016/j.rpth.2025.102957}"	""	"F12(NM_000505.4):c.619G>C (p.A207P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	"no"	"rs17876030"	"0"	""	""	"g.177404825C>G"	"{CV-SCV:001441476.1}"	"benign"	""
"0000271285"	"0"	"30"	"5"	"176831003"	"176831003"	"subst"	"0.000970951"	"02326"	"F12_000003"	"g.176831003C>G"	""	""	""	"F12(NM_000505.3):c.1107G>C (p.S369=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177404002C>G"	""	"likely benign"	""
"0000302226"	"0"	"10"	"5"	"176825069"	"176825069"	"subst"	"0.0222172"	"02326"	"SLC34A1_000022"	"g.176825069C>T"	""	""	""	"SLC34A1(NM_003052.5):c.1702C>T (p.H568Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177398068C>T"	""	"benign"	""
"0000337364"	"0"	"10"	"5"	"176830627"	"176830627"	"subst"	"0.518421"	"02327"	"F12_000002"	"g.176830627G>A"	""	""	""	"F12(NM_000505.4):c.1251-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177403626G>A"	""	"benign"	""
"0000337366"	"0"	"30"	"5"	"176831178"	"176831178"	"subst"	"0"	"02327"	"F12_000007"	"g.176831178C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177404177C>T"	""	"likely benign"	""
"0000337367"	"0"	"30"	"5"	"176836532"	"176836532"	"subst"	"0.653395"	"02327"	"F12_000010"	"g.176836532A>G"	""	""	""	"F12(NM_000505.4):c.-4T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177409531A>G"	""	"likely benign"	""
"0000337368"	"0"	"30"	"5"	"176836585"	"176836585"	"subst"	"0"	"02327"	"F12_000024"	"g.176836585C>G"	""	""	""	"F12(NM_000505.4):c.-57G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177409584C>G"	""	"likely benign"	""
"0000339553"	"0"	"10"	"5"	"176831589"	"176831589"	"subst"	"0.0229517"	"02327"	"F12_000009"	"g.176831589G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177404588G>A"	""	"benign"	""
"0000339554"	"0"	"50"	"5"	"176836590"	"176836590"	"subst"	"0"	"02327"	"F12_000025"	"g.176836590G>A"	""	""	""	"F12(NM_000505.4):c.-62C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177409589G>A"	""	"VUS"	""
"0000340684"	"0"	"50"	"5"	"176824864"	"176824864"	"subst"	"0"	"02327"	"SLC34A1_000024"	"g.176824864C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177397863C>T"	""	"VUS"	""
"0000341263"	"0"	"10"	"5"	"176831826"	"176831826"	"subst"	"0.949337"	"02327"	"F12_000005"	"g.176831826C>G"	""	""	""	"F12(NM_000505.4):c.619G>C (p.A207P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177404825C>G"	""	"benign"	""
"0000346501"	"0"	"10"	"5"	"176825069"	"176825069"	"subst"	"0.0222172"	"02327"	"SLC34A1_000022"	"g.176825069C>T"	""	""	""	"SLC34A1(NM_003052.5):c.1702C>T (p.H568Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177398068C>T"	""	"benign"	""
"0000349453"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"02327"	"F12_000008"	"g.176831232G>T"	""	""	""	"F12(NM_000505.3):c.983C>A (p.T328K), F12(NM_000505.4):c.983C>A (p.T328K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177404231G>T"	""	"pathogenic"	""
"0000487593"	"1"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Charignon 2018:10.1016/j.anai.2018.05.031}"	""	""	""	"Germline"	"yes"	"rs118204456"	"0"	""	""	"g.177404231G>T"	"{CV:000001169}"	"pathogenic"	"ACMG"
"0000525307"	"0"	"30"	"5"	"176830451"	"176830451"	"subst"	"0.0025852"	"02327"	"F12_000011"	"g.176830451C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.177403450C>T"	""	"likely benign"	""
"0000525308"	"0"	"30"	"5"	"176830627"	"176830627"	"subst"	"0.000619096"	"01943"	"F12_000012"	"g.176830627G>C"	""	""	""	"F12(NM_000505.3):c.1251-9C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.177403626G>C"	""	"likely benign"	""
"0000525309"	"0"	"30"	"5"	"176830970"	"176830970"	"subst"	"0"	"02326"	"F12_000013"	"g.176830970T>G"	""	""	""	"F12(NM_000505.3):c.1140A>C (p.L380=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.177403969T>G"	""	"likely benign"	""
"0000525310"	"0"	"30"	"5"	"176831083"	"176831083"	"subst"	"0.0030644"	"01943"	"F12_000014"	"g.176831083C>G"	""	""	""	"F12(NM_000505.3):c.1027G>C (p.A343P), F12(NM_000505.4):c.1027G>C (p.A343P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.177404082C>G"	""	"likely benign"	""
"0000525311"	"0"	"30"	"5"	"176831184"	"176831184"	"subst"	"0.000976836"	"02326"	"F12_000015"	"g.176831184C>G"	""	""	""	"F12(NM_000505.3):c.1018+13G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.177404183C>G"	""	"likely benign"	""
"0000525312"	"0"	"30"	"5"	"176831186"	"176831186"	"dup"	"0"	"02326"	"F12_000016"	"g.176831186dup"	""	""	""	"F12(NM_000505.3):c.1018+19dupG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.177404185dup"	""	"likely benign"	""
"0000525313"	"0"	"30"	"5"	"176831231"	"176831231"	"subst"	"4.33155E-5"	"01943"	"F12_000017"	"g.176831231C>G"	""	""	""	"F12(NM_000505.3):c.984G>C (p.T328=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177404230C>G"	""	"likely benign"	""
"0000525315"	"0"	"10"	"5"	"176831544"	"176831544"	"subst"	"0.0134362"	"02327"	"F12_000019"	"g.176831544G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.177404543G>A"	""	"benign"	""
"0000525316"	"0"	"30"	"5"	"176832166"	"176832166"	"subst"	"0.00220202"	"02326"	"F12_000020"	"g.176832166G>C"	""	""	""	"F12(NM_000505.3):c.418C>G (p.L140V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177405165G>C"	""	"likely benign"	""
"0000525317"	"0"	"10"	"5"	"176832198"	"176832198"	"subst"	"0.00550013"	"02327"	"F12_000021"	"g.176832198G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.177405197G>A"	""	"benign"	""
"0000525318"	"0"	"30"	"5"	"176832373"	"176832373"	"subst"	"0.000410623"	"01943"	"F12_000022"	"g.176832373G>T"	""	""	""	"F12(NM_000505.3):c.348C>A (p.G116=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.177405372G>T"	""	"likely benign"	""
"0000525320"	"0"	"30"	"5"	"176836585"	"176836585"	"subst"	"0"	"02325"	"F12_000024"	"g.176836585C>G"	""	""	""	"F12(NM_000505.4):c.-57G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.177409584C>G"	""	"likely benign"	""
"0000609645"	"0"	"30"	"5"	"176830570"	"176830570"	"subst"	"0.000850598"	"01943"	"F12_000026"	"g.176830570G>A"	""	""	""	"F12(NM_000505.3):c.1299C>T (p.N433=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.177403569G>A"	""	"likely benign"	""
"0000609646"	"0"	"30"	"5"	"176832166"	"176832166"	"subst"	"0.00220202"	"02327"	"F12_000020"	"g.176832166G>C"	""	""	""	"F12(NM_000505.3):c.418C>G (p.L140V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.177405165G>C"	""	"likely benign"	""
"0000609647"	"0"	"30"	"5"	"176836041"	"176836041"	"subst"	"0"	"01943"	"F12_000028"	"g.176836041A>C"	""	""	""	"F12(NM_000505.3):c.115+6T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177409040A>C"	""	"likely benign"	""
"0000621538"	"0"	"30"	"5"	"176831366"	"176831366"	"subst"	"4.64104E-5"	"02326"	"F12_000027"	"g.176831366G>A"	""	""	""	"F12(NM_000505.3):c.849C>T (p.D283=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177404365G>A"	""	"likely benign"	""
"0000651680"	"1"	"10"	"5"	"176831589"	"176831589"	"subst"	"0.0229517"	"03575"	"F12_000009"	"g.176831589G>A"	"15/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"15 heterozygous, no homozygous; {DB:CLININrs17876047}"	"Germline"	""	"rs17876047"	"0"	""	""	"g.177404588G>A"	""	"benign"	""
"0000655356"	"0"	"30"	"5"	"176829467"	"176829467"	"subst"	"0.000496955"	"01943"	"F12_000029"	"g.176829467C>T"	"0.00027"	""	""	"F12(NM_000505.3):c.1681-7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	"rs367745133"	"0"	""	""	"g.177402466C>T"	"{CV-SCV:003261918.3}"	"likely benign"	""
"0000677482"	"0"	"30"	"5"	"176831085"	"176831085"	"subst"	"0.000804567"	"02326"	"F12_000030"	"g.176831085G>A"	""	""	""	"F12(NM_000505.3):c.1025C>T (p.P342L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000677483"	"0"	"30"	"5"	"176836590"	"176836590"	"subst"	"0"	"02325"	"F12_000025"	"g.176836590G>A"	""	""	""	"F12(NM_000505.4):c.-62C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000684754"	"0"	"30"	"5"	"176831083"	"176831083"	"subst"	"0.0030644"	"00004"	"F12_000014"	"g.176831083C>G"	"frequency 0.023"	"{PMID:Le 2019:31180159}"	""	""	"classification based on frequency in 305 unrelated individuals"	"Germline"	""	""	"0"	""	""	"g.177404082C>G"	""	"likely benign"	""
"0000689488"	"0"	"90"	"5"	"176830619"	"176830619"	"subst"	"0"	"01943"	"F12_000031"	"g.176830619C>T"	""	""	""	"F12(NM_000505.3):c.1251-1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000689489"	"0"	"30"	"5"	"176831096"	"176831096"	"subst"	"0"	"02325"	"F12_000032"	"g.176831096G>A"	""	""	""	"F12(NM_000505.4):c.1019-5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000720355"	"0"	"30"	"5"	"176830588"	"176830588"	"subst"	"1.71935E-5"	"01943"	"F12_000033"	"g.176830588G>A"	""	""	""	"F12(NM_000505.3):c.1281C>T (p.L427=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000720356"	"0"	"30"	"5"	"176831083"	"176831083"	"subst"	"0.0030644"	"02325"	"F12_000014"	"g.176831083C>G"	""	""	""	"F12(NM_000505.3):c.1027G>C (p.A343P), F12(NM_000505.4):c.1027G>C (p.A343P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000720357"	"0"	"90"	"5"	"176831232"	"176831232"	"subst"	"0"	"02325"	"F12_000008"	"g.176831232G>T"	""	""	""	"F12(NM_000505.3):c.983C>A (p.T328K), F12(NM_000505.4):c.983C>A (p.T328K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177404231G>T"	""	"pathogenic"	""
"0000720358"	"0"	"30"	"5"	"176832166"	"176832166"	"subst"	"0.00220202"	"01943"	"F12_000020"	"g.176832166G>C"	""	""	""	"F12(NM_000505.3):c.418C>G (p.L140V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000720359"	"0"	"50"	"5"	"176832804"	"176832804"	"subst"	"1.21822E-5"	"01943"	"F12_000034"	"g.176832804C>G"	""	""	""	"F12(NM_000505.3):c.218G>C (p.C73S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000802043"	"0"	"50"	"5"	"176831293"	"176831293"	"subst"	"0.00015213"	"01943"	"F12_000035"	"g.176831293A>T"	""	""	""	"F12(NM_000505.3):c.922T>A (p.S308T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000814688"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	"0.000004 (GnomAD_exome)"	"{DOI:Veronez 2018:10.1016/j.jaip.2017.09.025} {DOI:Veronez 2021:10.1016/j.jaip.2020.11.039} {DOI:Gabriel 2025:10.3389/falgy.2022.846968}"	""	""	"Numerous Brazilian pedigrees have been recorded as carrying a c.983C>A variant, with 94 families and 176 heterozygous patients.\r\nIncomplete prenetrance: 79 asymptomatic relatives within 180 carriers of a c.983C>A variant.\r\nThe c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod"	"Germline"	"yes"	"rs118204456"	"0"	""	""	"g.177404231G>T"	"{CV:VCV000001169.8}"	"pathogenic"	"ACMG"
"0000814689"	"3"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	"0.000004 (GnomAD_exome)"	"{DOI:Grumach 2016:10.1111/all.12769} {DOI:Stieber 2014:10.1016/j.jaci.2013.12.139}"	""	"c.[983C>A];[983C>A]"	"Two Brazilian pedigrees have been recorded as segregating a c.983 C>A;(p.Thr328Lys) variant, with 1 homozygous carrier, one male and one female, respectively in each family.\r\nFourteen affected individuals.\r\nHomozygosity for c.983C>A variant lead to develop disease symptoms in males - heterozygous male carriers normally do not develop disease symptoms - and a more severe disease phenotype in females compared to patients heterozygous for the F12 c.983 C>A variant."	"Germline"	"yes"	"rs118204456"	"0"	""	""	"g.177404231G>T"	"{CV:VCV000001169.8}"	"pathogenic"	"ACMG"
"0000814737"	"0"	"99"	"5"	"176831175"	"176831246"	"del"	"0"	"03256"	"F12_000037"	"g.176831175_176831246del"	"0.0001 (ALFA project)"	"{DOI:Bork 2011:10.1016/j.clim.2011.07.002} {DOI:Bork 2014:10.1111/hae.12519} {DOI:Veronez 2017:10.1016/j.anai.2017.04.014} {DOI:Veronez 2018:10.1016/j.jaip.2017.09.025} {DOI:Veronez 2021:10.1016/j.jaip.2020.11.039}"	""	""	"A Brazilian male carrier is presenting with a HAE phenotype triggered by ACEi intake (Veronez 2018).\r\nThe F12 c.971_1018+24del72 variant is predicted to result in an in-frame deletion p.(Lys324_Ala340delinsThr)."	"Germline"	"yes"	"rs1554097246"	"0"	""	""	"g.177404174_177404245del"	"{CV:VCV000441533.1}"	"pathogenic"	"ACMG"
"0000814740"	"0"	"70"	"5"	"176829373"	"176829373"	"subst"	"0"	"03256"	"F12_000038"	"g.176829373A>C"	"0/125,748 exomes"	"{DOI:Veronez 2019:10.3389/fmed.2019.00028}"	""	""	"p.(Cys590Gly) could affect the catalytic domain of F12 in a hotspot associated with protein deficiency and could be beneficial to C1-INH-HAE (Veronez CL 2019).\r\nBioinformatic analysis by SIFT and PolyPhen2 algorithms predicted this mutation as deleterious and possibly damaging, respectively.\r\nConsidered as of uncertain significance according to ACMG criteria PM2,PP3."	"Germline"	""	"rs1157280571"	"0"	""	""	"g.177402372A>C"	"{CV:VCV000983441.1}"	"VUS"	"ACMG"
"0000814741"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Bova 2020:10.1111/all.14160}"	""	""	"Nine families and 23 affected individuals\r\nImportant Italian cohort from that has been assessed a prevalence of 1:1.4 × E6 for HAE-FXII.\r\nThe c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod"	"Germline"	"yes"	"rs118204456"	"0"	""	""	"g.177404231G>T"	"{CV:VCV000001169.8}"	"pathogenic"	"ACMG"
"0000814742"	"0"	"77"	"5"	"176831306"	"176831323"	"dup"	"0"	"03256"	"F12_000036"	"g.176831306_176831323dup"	"1/149302"	"{DOI:Kiss 2013:10.1016/j.clim.2013.08.001} {PMID:Kiss 2013:23994767}"	""	"c.892_909dup"	"No functional evidence in the report for this variation.\r\nIncomplete penetrance: 3 symptomatic individuals within 6 carriers of c.894_911dup variant.\r\nIn-frame duplication of 6 residues (Gln300_Thr305dup) within the Pro-rich region of the Kringle domain of factor XII.\r\nThe c.894_911dup variant has been introduced in ClinVar as pathogenic by the lab of MM Nöthen, Institute of Human Genetics, University Hospital Bonn Germany."	"Germline"	"yes"	"rs774034606"	"0"	""	""	"g.177404305_177404322dup"	"{CV-SCV:000502993.2}"	"pathogenic"	"ACMG"
"0000814743"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	"0.000004 (1/234142, GnomAD_exome)"	"{DOI:Martin 2001:10.1067/mai.2001.114242} {DOI:Cichon 2006:10.1086/509899} {DOI:Björkvist 2015:10.1172/JCI77139} {DOI:de Maat 2016:10.1111/jth.13383}"	""	"c.1032C>A"	"The first French pedigree affected by HAE-F12.\r\nIncomplete penetrance: 8/13 affected individuals. Haplotype analyses with use of SNPs at the F12 locus provided evidence that the French family and 3 of the German families reported by Dewald and Bork (2006) shared a common founder.\r\nPlasma displays a gain-of-function of kallikrein-kinin system; p.(Thr328Lys) exhibits a lower glycosylation, with subsequent increased autoactivation of zymogen F12.\r\nThr to Lys transition has consequence on the protein’s folding and conformation, with an open or relaxed conformation facilitating the access of kallikrein and plasmin and exposing cryptic proteolytic targets for thrombin that are normally concealed and not accessible in the compact conformation of FXII.\r\nThe c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod."	"Germline"	"yes"	"rs118204456"	"0"	""	""	"g.177404231G>T"	"{CV:VCV000001169.8}"	"pathogenic"	"ACMG"
"0000814745"	"0"	"90"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000039"	"g.176831232G>C"	""	"{DOI:Dewald 2006:10.1016/j.bbrc.2006.03.092}"	""	"c.1032C>G"	"The first c.983C>G variant that has never been found"	"Germline"	"yes"	"rs118204456"	""	""	""	"g.177404231G>C"	"VCV000001170.4"	"pathogenic"	"ACMG"
"0000814746"	"0"	"90"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Dewald 2006:10.1016/j.bbrc.2006.03.092}"	""	"c.1032C>A"	"Four independent German kindreds have been found as carrying a c.983C>A variant"	"Germline"	"yes"	"rs118204456"	""	""	""	"g.177404231G>T"	"{CV:VCV000001169.8}"	"pathogenic"	"ACMG"
"0000814820"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Bell 2008:10.1080/00313020701716433}"	""	""	"First Australian case with HAE-FXII.\r\nThe c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod"	"Germline"	"yes"	""	"0"	""	""	"g.177404231G>T"	""	"pathogenic"	"ACMG"
"0000814821"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Prieto 2009:10.1111/j.1398-9995.2008.01764.x}"	""	""	"3 female individuals have been shown as affected.\r\nA single male carrier of c.983C>A variant is shown asymptomatic.\r\nThe c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod"	"Germline"	"yes"	"rs118204456"	"0"	""	""	"g.177404231G>T"	"{CV:VCV000001169.8}"	"pathogenic"	"ACMG"
"0000814822"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Duan 2009:10.1016/j.jaci.2008.12.010}"	""	""	"A single Canadian pedigree with 6 affected female individuals.\r\nAffected females have polymorphisms associated with lower levels of both APP and ACE, the major enzymes responsible for bradykinin catabolism. Three patients also carry the A allele of SNP rs3788853 in the XPNPEP2 gene, which may have contributed to the phenotype, making this observation the first one with multiple genes that might contribute to estrogen-dependent or estrogen associated HAE-F12. But this allele is also found in 10 unaffected family members.\r\nThe c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod"	"Germline"	"yes"	""	"0"	""	""	"g.177404231G>T"	""	"pathogenic"	"ACMG"
"0000814823"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Bork 2009:10.1016/j.jaci.2009.03.038} {DOI:Bork 2023:10.1016/j.jaip.2023.01.051}"	""	""	"The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod"	"Germline"	"yes"	""	"0"	""	""	"g.177404231G>T"	""	"pathogenic"	"ACMG"
"0000814842"	"0"	"90"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Martin 2007:10.1016/j.jaci.2007.07.002}"	""	""	"A single French pedigree with women and man.\r\nC1Inh function drops of 10% to 40% compared to normal in female individuals, in line with the cleavage of the serpin from 105 to 95 kd without development of serpin-protease association, suggesting p.(Met328Lys) beyond the control of C1-INH"	"Germline"	"yes"	"rs118204456"	""	""	""	"g.177404231G>T"	"{CV:VCV000001169}"	"pathogenic"	"ACMG"
"0000815217"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	"0.000004 (GnomAD_exome)"	"{DOI:Piñero-Saavedra 2016:10.1016/j.anai.2016.09.001}"	""	""	"Nine families with 29 affected individuals.\r\nSymptomatic individuals have been found as carriers of a c.-2399C variant of XPNPEP2 gene, and a DD or ID polymporphism of ACE gene."	"Germline/De novo (untested)"	"yes"	"rs118204456"	"0"	""	""	"g.177404231G>T"	"{CV:VCV000001169.8}"	"pathogenic"	"ACMG"
"0000815218"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	"0.000004 (GnomAD_exome)"	"{DOI:Moreno 2015:10.1159/000376547}"	""	""	"The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod"	"Germline"	"yes"	"rs118204456"	"0"	""	""	"g.177404231G>T"	"{CV:VCV000001169.8}"	"pathogenic"	"ACMG"
"0000815706"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Firinu 2015:10.1016/j.clim.2015.02.013}"	""	""	"Four independent kindreds have been found as carrying a c.983C>A variant.\r\nFamily 1, n=5 (female)\r\nFamily 2, n=7 (female)\r\nFamily 3, n=1 (female)\r\nFamily 4, n=2 (female)\r\nAll carriers also carry the same combined SNPs already described by Cichon 2006, demonstrating a common ancestor.\r\nThe c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod"	"Germline"	"yes"	"rs118204456"	"0"	""	""	"g.177404231G>T"	"{CV:VCV000001170.4}"	"pathogenic"	"ACMG"
"0000815707"	"0"	"70"	"5"	"176831083"	"176831083"	"subst"	"0.0030644"	"03256"	"F12_000014"	"g.176831083C>G"	"0.00315 (gnomAD, exome)"	"{DOI:Gelincik 2014:10.1016/j.anai.2014.11.018}"	""	""	"Conflicting interpretations of pathogenicity"	"De novo"	""	"rs183643295"	""	""	""	"g.177404082C>G"	""	"likely pathogenic"	""
"0000815708"	"0"	"70"	"5"	"176831083"	"176831083"	"subst"	"0.0030644"	"03256"	"F12_000014"	"g.176831083C>G"	""	"{DOI:Iijima 2011:10.1160/TH10-02-0123}"	""	"9775G>C"	"Conflicting interpretations of pathogenicity.\r\nFactor XII exhibits partially defective prekallikrein cleavage activity."	"Germline"	"yes"	"rs183643295"	""	""	""	"g.177404082C>G"	"{CV:VCV000225352.7}"	"likely benign"	""
"0000815718"	"0"	"79"	"5"	"176829461"	"176829461"	"subst"	"0.000412216"	"03256"	"F12_000041"	"g.176829461C>T"	"0.000356 (gnomAD)"	"{DOI:Schloesser 1995:10.1093/hmg/4.7.1235} {DOI:Gelincik 2014:10.1016/j.anai.2014.11.018}"	""	""	"Conflicting interpretations of pathogenicity​.\r\nVariant described in an association with a FXII deficiency and also implicated in aHUS.\r\nNo family history (Gelincik 2014)\r\nIntroduced as pathogenic in ClinVar by Schloesser 1995"	"Germline/De novo (untested)"	"yes"	"rs199988476"	"0"	""	""	"g.177402460C>T"	"{CV-SCV:000021375.2}"	"VUS"	""
"0000815719"	"0"	"90"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Marcos 2012:10.1016/j.anai.2012.05.022}"	""	""	"Thirteen kindreds from North-Western Spain have been found as carrying a c.983C>A variant, with 29 affected individuals"	"Germline"	"yes"	"rs118204456"	""	""	""	"g.177404231G>T"	"{CV:VCV000001169.8}"	"pathogenic"	"ACMG"
"0000815720"	"0"	"99"	"5"	"176831175"	"176831246"	"del"	"0"	"03256"	"F12_000037"	"g.176831175_176831246del"	""	"{DOI:Bork 2011:10.1016/j.clim.2011.07.002}"	""	""	"The F12 c.971_1018+24del72 variant is predicted to result in an in-frame deletion p.(Lys324_Ala340delinsThr). No analysis of transcripts available."	"Germline"	"yes"	"rs1554097246"	"0"	""	""	"g.177404174_177404245del"	"{CV:VCV000441533.1}"	"pathogenic"	"ACMG"
"0000815721"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Baeza 2011:10.1111/j.1398-9995.2011.02562.x}"	""	""	"The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod"	"Germline"	"yes"	""	"0"	""	""	"g.177404231G>T"	""	"pathogenic"	"ACMG"
"0000815722"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Picone 2010:10.1155/2010/957507}"	""	""	"Two families with 5 affected female individuals; 3 are presenting with severe obstetrical complications"	"Germline"	"yes"	""	"0"	""	""	"g.177404231G>T"	""	"pathogenic"	"ACMG"
"0000815724"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Nagy 2009:10.1016/j.jdermsci.2009.06.013}"	""	""	"A single Italian pedigree with 3 affected female individuals.\r\nThe patients also carry the same combination of SNPs already observed in the first description by Cichon et al 2006, demonstrating c983C>A as a common ancestral variant among affected individuals in western Europe.\r\nThe c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod"	"Germline"	"yes"	""	"0"	""	""	"g.177404231G>T"	""	"pathogenic"	"ACMG"
"0000815745"	"0"	"99"	"5"	"176831356"	"176831356"	"subst"	"0"	"03256"	"F12_000040"	"g.176831356A>T"	""	"{DOI:Hofman 2020:10.1074/jbc.RA119.009788} {DOI:Scheffel 2020:10.1038/s41467-019-13984-8}"	""	""	"p.(Trp287Arg) variant affects the kringle domain of factor XII.\r\nSpontaneously active p.(Trp287Arg) variant product in the recombinantly production medium; prone to intracellular autoactivation and accelerating FXII activation and overriding C1-INH control function."	"Germline"	"yes"	""	"0"	""	""	"g.177404359A>T"	""	"pathogenic"	""
"0000815746"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Veronez 2019:10.3389/fmed.2019.00028}"	""	""	"A Spanish kindred has been shown as carrying a c.983C>A variant, with 2 affected individuals"	"Germline"	"yes"	""	"0"	""	""	"g.177404231G>T"	""	"pathogenic"	"ACMG"
"0000815849"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Deroux 2016:10.1111/cei.12820}"	""	""	"24 French pedigrees have been shown as carrying a c.983C>A variant, with 37/57 affected individuals.\r\nFamily origin: 12/24 from Northern Africa.\r\nThe c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod."	"Germline"	"yes"	"rs118204456"	"0"	""	""	"g.177404231G>T"	"{CV:VCV000001169}"	"pathogenic"	"ACMG"
"0000815925"	"0"	"99"	"5"	"176829461"	"176829461"	"subst"	"0.000412216"	"03256"	"F12_000041"	"g.176829461C>T"	""	"{DOI:Schloesser 1995:10.1093/hmg/4.7.1235 }"	""	"11396G>A"	"A truncated transcript has been shown.\r\nThere are at least 2 more F12 variants of unknown nature that could impair FXII expression in affected individuals in the family"	"Germline"	"yes"	"rs199988476"	"0"	""	""	"g.177402460C>T"	"{CV:VCV000001166.5}"	"likely pathogenic"	""
"0000818052"	"1"	"70"	"5"	"176830390"	"176830390"	"subst"	"0"	"03256"	"F12_000042"	"g.176830390G>T"	""	"{DOI:Matsukuma 2011:10.1007/s10157-010-0375-z}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.177403121G>T"	""	"likely pathogenic"	""
"0000818053"	"2"	"50"	"5"	"176831579"	"176831579"	"subst"	"0"	"03256"	"F12_000043"	"g.176831579A>C"	""	"{DOI:Matsukuma 2011:10.1007/s10157-010-0375-z.}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000818628"	"0"	"70"	"5"	"176830256"	"176830256"	"subst"	"0"	"03256"	"F12_000044"	"g.176830256C>G"	""	"Vatsiou 2018 (Alergia Astma Immunologia 2018, 23 (4): 205-210)"	""	""	"The variant c.1530G>C has been found in the asymptomatic father\'s DNA, congruent with an incomplete penetrance of HAE-FXII.\r\nc.1530G>C variant has been predicted as probably damaging by both the bioinformatic tools SIFT and PolyPhen2"	"Germline"	"no"	""	"0"	""	""	"g.177403255C>G"	"VCV000983440.1"	"VUS"	"ACMG"
"0000859885"	"0"	"90"	"5"	"176831093"	"176831093"	"subst"	"4.56671E-6"	"02325"	"F12_000045"	"g.176831093T>G"	""	""	""	"F12(NM_000505.4):c.1019-2A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000859886"	"0"	"30"	"5"	"176831893"	"176831893"	"subst"	"0"	"01943"	"F12_000046"	"g.176831893G>A"	""	""	""	"F12(NM_000505.3):c.552C>T (p.L184=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000871229"	"0"	"11"	"5"	"176836532"	"176836532"	"subst"	"0.653395"	"03256"	"F12_000010"	"g.176836532A>G"	"0.34803"	"{PMID:Corvillo 2020:33133137}, {DOI:Corvillo 2020:10.3389/fgene.2020.01033} {DOI:Demidova 2023:10.1007/s12185-023-03535-9}"	""	"‐46C/T"	"c.-4T>C, also recognised as F12‐46C/T, creates a new up-stream translational start codon, thereby attenuating formation of the authentic FXII protein; the variant, alias Kozak polymorphism, has been shown to modify the course of HAE-C1-INH; variant is overrepresented in a Spanish HAE-FXII cohort and significantly influences the degree of kallikrein-kinin system activation and the clinical severity\r\nc.-4T>C also decreases FXII activity when associated with F12 variants c.-62C>T, c.-57G>C, and strongly with c.1532-1G>A"	"Germline"	"no"	"rs1801020"	"0"	""	""	"g.177409531A>G"	"{CV:VCV000001167.14}"	"association"	"ACMG"
"0000878917"	"0"	"90"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Mendoza-Alvarez 2022:10.3389/fimmu.2022.997148}"	""	""	""	"Germline"	"yes"	""	""	""	""	"g.177404231G>T"	""	"pathogenic"	"ACMG"
"0000886770"	"0"	"30"	"5"	"176831083"	"176831083"	"subst"	"0.0030644"	"02326"	"F12_000014"	"g.176831083C>G"	""	""	""	"F12(NM_000505.3):c.1027G>C (p.A343P), F12(NM_000505.4):c.1027G>C (p.A343P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886771"	"0"	"30"	"5"	"176831301"	"176831301"	"subst"	"4.34062E-6"	"02326"	"F12_000047"	"g.176831301G>A"	""	""	""	"F12(NM_000505.3):c.914C>T (p.T305I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000908426"	"3"	"99"	"5"	"176829460"	"176829460"	";"	"5.7545E-5"	"03256"	"F12_000048"	"g.176829460C>T"	""	"{PMID:Chou 2022:35675023}, {DOI:Chou 2022:10.1007/s12185-022-03390-0}"	""	""	"Failed FXII function but only slighly decreased antigenic FXII"	"Germline"	"yes"	""	"0"	""	""	"g.177402459C>T"	""	"likely pathogenic (recessive)"	""
"0000908427"	"1"	"90"	"5"	"176829675"	"176829675"	"subst"	"0"	"03256"	"F12_000049"	"g.176829675A>T"	""	"{PMID:Chou 2022:35675023}, {DOI:Chou 2022:10.1007/s12185-022-03390-0}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.177402674A>T"	""	"likely pathogenic (recessive)"	""
"0000908428"	"3"	"90"	"5"	"176829393"	"176829393"	"subst"	"0"	"03256"	"F12_000052"	"g.176829393A>T"	""	"{PMID:Jiang 2022:36481867}, {DOI:Jiang 2022:10.1055/a-1962-1490}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.177402392A>T"	""	"likely pathogenic (recessive)"	""
"0000908429"	"3"	"99"	"5"	"176829670"	"176829670"	"subst"	"2.85602E-5"	"03256"	"F12_000050"	"g.176829670C>T"	""	"{PMID:Chou 2022:35675023}, {DOI:Chou 2022:10.1007/s12185-022-03390-0}"	""	""	"Homozygous patient presenting with a prolonged aPTT, an undetectable FXII function and a very low antigenic FXII"	"Germline"	"yes"	""	"0"	""	""	"g.177402669C>T"	""	"likely pathogenic (recessive)"	""
"0000908518"	"3"	"99"	"5"	"176829460"	"176829460"	";"	"5.7545E-5"	"03256"	"F12_000048"	"g.176829460C>T"	""	"{PMID:Chou 2022:35675023}, {DOI:Chou 2022:10.1007/s12185-022-03390-0}"	""	""	"Strong decreased FXII function, but normal antigenic FXII"	"Germline"	"yes"	""	"0"	""	""	"g.177402459C>T"	""	"likely pathogenic (recessive)"	""
"0000908519"	"3"	"99"	"5"	"176829460"	"176829460"	"subst"	"5.7545E-5"	"03256"	"F12_000048"	"g.176829460C>T"	""	"{PMID:Chou 2022:35675023}, {DOI:Chou 2022:10.1007/s12185-022-03390-0}"	""	""	"Persistently undetectable FXII function, but nearly normal antigenic FXII"	"Germline"	"yes"	""	"0"	""	""	"g.177402459C>T"	""	"likely pathogenic (recessive)"	""
"0000908520"	"2"	"99"	"5"	"176829460"	"176829460"	"subst"	"5.7545E-5"	"03256"	"F12_000048"	"g.176829460C>T"	""	"{PMID:Chou 2022:35675023}, {DOI:Chou 2022:10.1007/s12185-022-03390-0}"	""	""	"Strongly decreased FXII function and less than half the antigenic FXII"	"Germline"	"yes"	""	"0"	""	""	"g.177402459C>T"	""	"likely pathogenic (recessive)"	""
"0000908521"	"3"	"30"	"5"	"176841339"	"176841339"	"subst"	"0"	"00006"	"F12_000051"	"g.176841339T>C"	""	"{PMID:Chou 2022:35675023}, {DOI:Chou 2022:10.1007/s12185-022-03390-0}"	""	"46 C/C, -4811A>G"	""	"Germline"	""	"rs2545801"	"0"	""	""	"g.177414338T>C"	""	"likely benign"	""
"0000912291"	"0"	"30"	"5"	"176830413"	"176830413"	"subst"	"4.95462E-6"	"02326"	"F12_000053"	"g.176830413G>C"	""	""	""	"F12(NM_000505.3):c.1388-15C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000912292"	"0"	"30"	"5"	"176830627"	"176830627"	"subst"	"0.000619096"	"02326"	"F12_000012"	"g.176830627G>C"	""	""	""	"F12(NM_000505.3):c.1251-9C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000912293"	"0"	"70"	"5"	"176832804"	"176832804"	"subst"	"1.21822E-5"	"02326"	"F12_000034"	"g.176832804C>G"	""	""	""	"F12(NM_000505.3):c.218G>C (p.C73S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916982"	"0"	"90"	"5"	"176829700"	"176829700"	"subst"	"0"	"03256"	"F12_000054"	"g.176829700C>T"	""	"{DOI:Demidova 2023:10.1007/s12185-023-03535-9}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.177402699C>T"	""	"likely pathogenic"	""
"0000916983"	"0"	"90"	"5"	"176831831"	"176831831"	"del"	"0"	"03256"	"F12_000055"	"g.176831831del"	""	"{DOI:Demidova 2023:10.1007/s12185-023-03535-9}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.177404830del"	""	"likely pathogenic"	""
"0000916984"	"0"	"90"	"5"	"176830929"	"176830930"	"del"	"0"	"03256"	"F12_000056"	"g.176830929_176830930del"	""	"{DOI:Demidova 2023:10.1007/s12185-023-03535-9}"	""	"1180_1181del"	""	"Germline"	""	""	"0"	""	""	"g.177403928_177403929del"	""	"likely pathogenic"	""
"0000916990"	"3"	"90"	"5"	"176836590"	"176836590"	"subst"	"0"	"03256"	"F12_000025"	"g.176836590G>A"	""	"{DOI:Demidova 2023:10.1007/s12185-023-03535-9}"	""	"c.[-62C>T];[-62C>T]"	"Homozygous carrier of c.-62C>T variant displays a very low FXII activity"	"Germline"	""	""	""	""	""	"g.177409589G>A"	"{CV:VCV000369463.4}"	"likely pathogenic (recessive)"	""
"0000916992"	"3"	"90"	"5"	"176836585"	"176836585"	"subst"	"0"	"03256"	"F12_000024"	"g.176836585C>G"	"0.00220"	"{DOI:Demidova 2023:10.1007/s12185-023-03535-9}"	""	"c.[-57G>C];[-57G>C]"	"Homozygous proband plasma samples displays a very low FXII activity"	"Germline"	"no"	"rs41309132"	""	""	""	"g.177409584C>G"	"{CV:VCV000369462.10}"	"likely pathogenic (recessive)"	""
"0000918277"	"3"	"90"	"5"	"176829593"	"176829593"	"subst"	"0"	"03256"	"F12_000057"	"g.176829593C>T"	""	"{DOI:Liu 2020:0.1080/16078454.2020.1859249}"	""	"c.[1638G>A];[1638G>A]"	"Heterozygous mother, son and daughter display a normal aPTT and are found asymptomatic"	"Germline"	""	""	""	""	""	"g.177402592C>T"	""	"likely pathogenic (recessive)"	""
"0000920500"	"0"	"99"	"5"	"176829461"	"176829461"	"subst"	"0.000412216"	"03256"	"F12_000041"	"g.176829461C>T"	"0.000356 (gnomAD)"	"{DOI:Hintze 2023:10.3389/fphys.2022.1090732}"	""	""	"Compound heterozygous proband carrying both PLG c.988A>G;p.(Lys330Glu) and F12 c.1681-1G>A variants.\r\nSplice acceptor sequence : Variant c.1681-1G>A resulting in the loss of one F12 allele, thus reducing the presence of FXII protein at least by half.\r\nVariant c.1681-1G>A introduced as likely pathogenic in ClinVar by Illumina San Diego CA"	"Germline"	"yes"	"rs199988476"	"0"	""	""	"g.177402460C>T"	"{CV-RCV:000382012.3}"	"likely pathogenic"	""
"0000929056"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"02326"	"F12_000008"	"g.176831232G>T"	""	""	""	"F12(NM_000505.3):c.983C>A (p.T328K), F12(NM_000505.4):c.983C>A (p.T328K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.177404231G>T"	""	"pathogenic"	""
"0000933298"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	"0.00001"	"{DOI:Bork 2023:10.1016/j.jaip.2023.01.051}"	""	""	"Isolated HAE-nC1-INH individuals carrying a c.983C>A variant (10 families): Occurrence of only one symptomatic patient per family, who had no family history of angioedema but who had symptom-free relatives carrying the same HAE-linked c.983C>A variant.\r\nThe c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod"	"Germline"	"yes"	"rs118204456"	"0"	""	""	"g.177404231G>T"	"{CV:000001169}"	"pathogenic"	"ACMG"
"0000933362"	"3"	"99"	"5"	"176836528"	"176836528"	"subst"	"8.12783E-6"	"03256"	"F12_000058"	"g.176836528T>C"	""	"{DOI:Ji 2023:10.3760/cma.j.cn511374-20221102-00750}"	""	"c.[1A>G];[1A>G]"	"Proband homozygous for the c.1A>G variant; his father, mother, sister and son are all heterozygous.\r\nPredicted harmful by SIFT online software."	"Germline"	"yes"	""	"0"	""	""	"g.177409536T>C"	""	"likely pathogenic"	"ACMG"
"0000933464"	"1"	"77"	"5"	"176829648"	"176829648"	"subst"	"0"	"03256"	"F12_000059"	"g.176829648G>A"	""	"{DOI:Kwon 2010:10.1097/MBC.0b013e32833449df}"	""	"c.[1583C>T];[1744G>A]"	""	"Germline"	""	""	"0"	""	""	"g.177402647G>A"	""	"likely pathogenic (recessive)"	""
"0000933465"	"2"	"77"	"5"	"176829397"	"176829397"	"subst"	"4.09209E-6"	"03256"	"F12_000060"	"g.176829397C>T"	"0.000004016"	"{DOI:Kwon 2010:10.1097/MBC.0b013e32833449df}"	""	"c.[1583C>T];[1744G>A]"	""	"Germline"	""	""	"0"	""	""	"g.177402396C>T"	""	"likely pathogenic (recessive)"	""
"0000933466"	"3"	"77"	"5"	"176832179"	"176832179"	"subst"	"0"	"03256"	"F12_000061"	"g.176832179G>T"	""	"{DOI:Kwon 2010:10.1097/MBC.0b013e32833449df}"	""	"c.[405C>A];[405C>A]"	""	"Germline"	""	""	"0"	""	""	"g.177405178G>T"	""	"likely pathogenic (recessive)"	""
"0000933468"	"1"	"99"	"5"	"176831016"	"176831017"	"ins"	"0"	"03256"	"F12_000062"	"g.176831016_176831017insG"	"0.00002643"	"{DOI:Kwon 2010:10.1097/MBC.0b013e32833449df}"	""	"c.[1093_1094insC];[1744G>A]"	""	"Germline"	""	""	"0"	""	""	"g.177404013_177404014insG"	""	"likely pathogenic (recessive)"	""
"0000948533"	"0"	"30"	"5"	"176831185"	"176831185"	"subst"	"0.000953225"	"02326"	"F12_000065"	"g.176831185C>G"	""	""	""	"F12(NM_000505.3):c.1018+12G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000951917"	"11"	"77"	"5"	"176832375"	"176832375"	"subst"	"4.06577E-6"	"03256"	"F12_000063"	"g.176832375C>T"	""	"{DOI:Cheng 2023:10.3760/cma.j.cn511374-20220829-00585}"	""	"c.[346G>A];[1583C>A]"	"Compound heterozygous variant with c.1583C>A"	"Germline"	"yes"	""	"0"	""	""	"g.177405374C>T"	""	"likely pathogenic (recessive)"	""
"0000951918"	"21"	"77"	"5"	"176829648"	"176829648"	"subst"	"8.15854E-6"	"03256"	"F12_000064"	"g.176829648G>T"	""	"{DOI:Cheng 2023:10.3760/cma.j.cn511374-20220829-00585}"	""	"c.[346G>A];[1583C>A]"	"Compound heterozygous variant with c.346G>A"	"Germline"	"yes"	""	"0"	""	""	"g.177402647G>T"	""	"likely pathogenic (recessive)"	""
"0000952281"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Hentges 2009:10.1016/j.jaci.2008.10.056}"	""	""	"The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod"	"Germline"	"yes"	""	"0"	""	""	"g.177404231G>T"	""	"pathogenic"	"ACMG"
"0000952282"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Gomez-Traseira 2010:10.1016/j.jaci.2013.04.032}"	""	""	"The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod"	"Germline"	"yes"	""	"0"	""	""	"g.177404231G>T"	""	"pathogenic"	"ACMG"
"0000952283"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Mansi 2015:10.1111/joim.12304}"	""	""	"The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod"	"Germline"	"yes"	"rs118204456"	"0"	""	""	"g.177404231G>T"	"{CV-SCV:002240385.3}"	"pathogenic"	"ACMG"
"0000952284"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	"0.000004271"	"{DOI:Stieber 2015:10.1111/bjd.13791}"	""	""	""	"Germline"	"yes"	"rs118204456"	"0"	""	""	"g.177404231G>T"	"{CV-SCV:001441472.1}"	"pathogenic"	"ACMG"
"0000952285"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	"0.000004"	"{DOI:Bork 2017:10.1111/all.13076}"	""	""	"The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod"	"Germline"	"yes"	"rs118204456"	"0"	""	""	"g.177404231G>T"	""	"pathogenic"	"ACMG"
"0000953801"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	"0.000004"	"{DOI:Lochbaum 2023:10.1080/09546634.2023.2290362}"	""	""	""	"Germline"	""	"rs118204456"	"0"	""	""	"g.177404231G>T"	""	"pathogenic"	"ACMG"
"0000953802"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	"0.000004"	"{DOI:Lochbaum 2023:10.1080/09546634.2023.2290362}"	""	""	"Clinical presentation: Recurrent edema of the limbs, lips, face, abdomen, lasting approx. five days.\r\nThe c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod"	"Germline"	"yes"	"rs118204456"	"0"	""	""	"g.177404231G>T"	""	"pathogenic"	"ACMG"
"0000954159"	"0"	"99"	"5"	"176832997"	"176832997"	"subst"	"2.03084E-5"	"03256"	"F12_000066"	"g.176832997A>G"	""	"{DOI:Han 2015:10.1016/j.thromres.2015.06.012}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.177406042A>G"	""	"likely pathogenic"	""
"0000954160"	"0"	"99"	"5"	"176830934"	"176830934"	"subst"	"0"	"03256"	"F12_000067"	"g.176830934C>T"	""	"{DOI:Han 2015:10.1016/j.thromres.2015.06.012}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.177403933C>T"	""	"likely pathogenic"	""
"0000954161"	"0"	"99"	"5"	"176831879"	"176831879"	"subst"	"0"	"03256"	"F12_000068"	"g.176831879C>G"	""	"{DOI:Han 2015:10.1016/j.thromres.2015.06.012}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.177404878C>G"	""	"likely pathogenic"	""
"0000954164"	"2"	"77"	"5"	"176829397"	"176829397"	"subst"	"4.09209E-6"	"03256"	"F12_000060"	"g.176829397C>T"	"0.000004016"	"{DOI:Kwon 2010:10.1097/MBC.0b013e32833449df}"	""	"c.[1093_1094insC(;)1744G>A]"	""	"Germline"	""	""	"0"	""	""	"g.177402396C>T"	""	"likely pathogenic (recessive)"	""
"0000954356"	"0"	"30"	"5"	"176832166"	"176832166"	"subst"	"0.00220202"	"03256"	"F12_000020"	"g.176832166G>C"	"0.00247 (gnomAD)"	""	""	""	"Conflicting interpretation of pathogenicity\r\n-1. VUS as introduced by GeneDx, Gaithersburg MA\r\n-2. Likely benign as introduced by CeGaT Center for Human Genetics Tübingen, Germany. Criteria applied: BP4, BS1\r\n-3. Benign as introduced by CeMIA, Larissa Greece"	"SUMMARY record"	""	"rs35515200"	"0"	""	""	"g.177405165G>C"	"{CV-SCV:003842612.1}"	"likely benign"	""
"0000960057"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	"0.000004"	"{DOI:Dias de Castro 2024:10.1016/j.anai.2024.01.027}"	""	""	"A Portugese population with 38 probands carrying a c.983C>A variant.\r\nThe c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod"	"Germline"	"yes"	"rs118204456"	"0"	""	""	"g.177404231G>T"	"{CV-SCV:002240385.3}"	"pathogenic"	"ACMG"
"0000988414"	"3"	"99"	"5"	"176830271"	"176830271"	"subst"	"0"	"03256"	"F12_000069"	"g.176830271C>G"	""	"{PMID:Wada 2003:12876626} {DOI:Aljabry 2024:10.1186/s13256-023-04238-9}"	""	""	"Strong reduction of plasma FXII activity, <5% antigenic FXII"	"Germline"	"yes"	""	"0"	""	""	"g.177403270C>G"	""	"pathogenic (recessive)"	""
"0001018825"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Saddouk 2024:10.1016/j.ijoa.2024.104283}"	""	""	"The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod"	"Germline"	"yes"	"rs11820445"	"0"	""	""	"g.177404231G>T"	""	"pathogenic"	"ACMG"
"0001023920"	"0"	"99"	"5"	"176829373"	"176829373"	"subst"	"0"	"03256"	"F12_000070"	"g.176829373A>T"	"0.000007"	"{DOI:Myiata 1989:10.1073/pnas.86.21.8319} {DOI:Saito 1981:10.1172/jci110325}"	""	""	"The authors suggest that the substitution of Cys571 by Ser destroys the formation of the disulfide linkage between Cys540 and Cys571, giving rise to an altered conformation of the active-site serine residue or the secondary substrate-binding site with subsequent loss of enzyme activity."	"Germline"	""	"rs1157280571"	"0"	""	""	"g.177402372A>T"	"{CV-SCV:000021373.3}"	"pathogenic"	"ACMG"
"0001025071"	"0"	"90"	"5"	"176829461"	"176829461"	"subst"	"0.000412216"	"02325"	"F12_000041"	"g.176829461C>T"	""	""	""	"F12(NM_000505.4):c.1681-1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001025072"	"0"	"30"	"5"	"176833286"	"176833286"	"subst"	"0"	"02327"	"F12_000071"	"g.176833286A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"likely benign"	""
"0001030027"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Lekhlit 2025:10.36347/sjmcr.2025.v13i03.005}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.177404231G>T"	""	"pathogenic"	"ACMG"
"0001030318"	"0"	"99"	"5"	"176831173"	"176831244"	"del"	"1.54116E-5"	"03256"	"F12_000037"	"g.176831173_176831244del"	""	"{DOI:Moreno 2015:10.1159/000376547} {DOI:Veronez 2018:10.1016/j.jaip.2017.09.025} {DOI:Gabriel 2025:10.3389/falgy.2022.846968}"	""	""	"Two independent Brazilian families have been shown as carrying a g.177404174_177404245del variant.\r\nThe F12 c.971_1018+24del variant is predicted to result in an in-frame deletion p.(Lys324_Ala340delinsThr). No analysis of transcripts available."	"Germline"	"yes"	"rs1554097246"	"0"	""	""	"g.177404174_177404245del"	"{CV-SCV:005350560.1}"	"pathogenic"	"ACMG"
"0001045006"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Veronez 2019:10.3389/fmed.2019.00080}"	""	"p.Thr328Lys"	""	"Germline"	"yes"	""	"0"	""	""	"g.177404231G>T"	""	"pathogenic"	"ACMG"
"0001045073"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:Contreras-Verduzco 2023:10.1186/s13223-023-00845-9}"	""	""	"First report of a Mexican family with 12 carriers - 8 women and 4 men, including an asymptomatic male carrier."	"Germline"	"yes"	""	"0"	""	""	"g.177404231G>T"	""	"pathogenic"	"ACMG"
"0001046022"	"0"	"90"	"5"	"176831388"	"176831388"	"subst"	"0"	"02325"	"F12_000001"	"g.176831388C>T"	""	""	""	"F12(NM_000505.4):c.827G>A (p.W276*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001046023"	"0"	"50"	"5"	"176832799"	"176832799"	"subst"	"8.1215E-6"	"02325"	"F12_000072"	"g.176832799T>C"	""	""	""	"F12(NM_000505.4):c.223A>G (p.T75A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"VUS"	""
"0001047019"	"0"	"33"	"5"	"176831826"	"176831826"	"subst"	"0.949337"	"03256"	"F12_000005"	"g.176831826C>G"	""	"{DOI:Kiss 2013:10.1016/j.clim.2013.08.001}"	""	""	""	"Germline"	""	"rs17876030"	"0"	""	""	"g.177404825C>G"	"{CV-RCV:000264675.9}"	"benign"	""
"0001047572"	"0"	"99"	"5"	"176831232"	"176831232"	"subst"	"0"	"03256"	"F12_000008"	"g.176831232G>T"	""	"{DOI:García Robledo 2025:10.1016/j.redare.2025.501732}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.177404231G>T"	""	"pathogenic"	"ACMG"
"0001049417"	"21"	"77"	"5"	"176831018"	"176831018"	"dup"	"0"	"03256"	"F12_000073"	"g.176831018dup"	""	"{DOI:Ye 2023:10.3760/cma.j.cn511374-20220218-00113}"	""	"c.[1092dup(;)1792_1796del]"	"Compound heterozygous carriers of c.1092dup and c.1792_1796del variants. In addition the proband and both sons harbor a 46T/T polymorphism."	"Germline"	""	""	"0"	""	""	"g.177404015dup"	""	"likely pathogenic"	""
"0001049419"	"11"	"77"	"5"	"176829345"	"176829349"	"del"	"0"	"03256"	"F12_000074"	"g.176829345_176829349del"	""	"{DOI:Ye 2023:10.3760/cma.j.cn511374-20220218-00113}"	""	"c.[1092dup(;)1792_1796del]"	"Compound heterozygous carriers of c.1092dup and c.1792_1796del variants. In addition the proband and both sons harbor a 46T/T polymorphism.\r\nBased on the ACMG guidelines, the c.1792_1796del meets the criteria to be classified as a pathogenic variant: PVS1, PM2_Supporting, PM4."	"Germline"	""	""	"0"	""	""	"g.177402362_177402358del"	""	"pathogenic"	"ACMG"
"0001049438"	"0"	"99"	"5"	"176830995"	"176830995"	"subst"	"0"	"03256"	"F12_000075"	"g.176830995C>G"	"0.00003"	"{PMID:Hovinga 1994:8049433}"	""	""	"The c.1115G>C variant product has been called FXII Locarno. The kallikrein cleavage site at Arg353-Val354 is disrupted. Although trypsin-activated FXII Locarno is fully cleaved at Arg334-Asn335 and at Arg343-Leu344, neither amidolytic nor proteolytic activity is generated."	"Germline"	"yes"	"rs118204454"	"0"	""	""	"g.177403994C>G"	"{CV-SCV:000021374.2}"	"pathogenic"	"ACMG"
"0001057708"	"0"	"70"	"5"	"176832051"	"176832051"	"subst"	"0"	"03256"	"F12_000076"	"g.176832051T>C"	""	"{DOI:Dias de Castro 2024:10.1016/j.anai.2024.01.027}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes F12
## Count = 143
"{{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}}"
"0000047869"	"00007349"	"50"	"827"	"0"	"827"	"0"	"c.827G>A"	"r.(?)"	"p.(Trp276*)"	"9"
"0000249066"	"00007349"	"10"	"-4"	"0"	"-4"	"0"	"c.-4T>C"	"r.(?)"	"p.(=)"	""
"0000267941"	"00007349"	"10"	"1018"	"19"	"1018"	"19"	"c.1018+19del"	"r.(=)"	"p.(=)"	""
"0000267942"	"00007349"	"10"	"1251"	"-9"	"1251"	"-9"	"c.1251-9C>T"	"r.(=)"	"p.(=)"	""
"0000267943"	"00007349"	"10"	"619"	"0"	"619"	"0"	"c.619G>C"	"r.(?)"	"p.(Ala207Pro)"	"7"
"0000271285"	"00007349"	"30"	"1107"	"0"	"1107"	"0"	"c.1107G>C"	"r.(?)"	"p.(Ser369=)"	"10"
"0000302226"	"00007349"	"10"	"6072"	"0"	"6072"	"0"	"c.*4224G>A"	"r.(=)"	"p.(=)"	""
"0000337364"	"00007349"	"10"	"1251"	"-9"	"1251"	"-9"	"c.1251-9C>T"	"r.(=)"	"p.(=)"	""
"0000337366"	"00007349"	"30"	"1018"	"19"	"1018"	"19"	"c.1018+19G>A"	"r.(=)"	"p.(=)"	""
"0000337367"	"00007349"	"30"	"-4"	"0"	"-4"	"0"	"c.-4T>C"	"r.(?)"	"p.(=)"	""
"0000337368"	"00007349"	"30"	"-57"	"0"	"-57"	"0"	"c.-57G>C"	"r.(?)"	"p.(=)"	""
"0000339553"	"00007349"	"10"	"711"	"0"	"711"	"0"	"c.711C>T"	"r.(?)"	"p.(Pro237=)"	""
"0000339554"	"00007349"	"50"	"-62"	"0"	"-62"	"0"	"c.-62C>T"	"r.(?)"	"p.(=)"	""
"0000340684"	"00007349"	"50"	"6277"	"0"	"6277"	"0"	"c.*4429G>A"	"r.(=)"	"p.(=)"	"14_"
"0000341263"	"00007349"	"10"	"619"	"0"	"619"	"0"	"c.619G>C"	"r.(?)"	"p.(Ala207Pro)"	""
"0000346501"	"00007349"	"10"	"6072"	"0"	"6072"	"0"	"c.*4224G>A"	"r.(=)"	"p.(=)"	""
"0000349453"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000487593"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000525307"	"00007349"	"30"	"1387"	"31"	"1387"	"31"	"c.1387+31G>A"	"r.(=)"	"p.(=)"	""
"0000525308"	"00007349"	"30"	"1251"	"-9"	"1251"	"-9"	"c.1251-9C>G"	"r.(=)"	"p.(=)"	""
"0000525309"	"00007349"	"30"	"1140"	"0"	"1140"	"0"	"c.1140A>C"	"r.(?)"	"p.(Leu380=)"	""
"0000525310"	"00007349"	"30"	"1027"	"0"	"1027"	"0"	"c.1027G>C"	"r.(?)"	"p.(Ala343Pro)"	""
"0000525311"	"00007349"	"30"	"1018"	"13"	"1018"	"13"	"c.1018+13G>C"	"r.(=)"	"p.(=)"	""
"0000525312"	"00007349"	"30"	"1018"	"19"	"1018"	"19"	"c.1018+19dup"	"r.(=)"	"p.(=)"	""
"0000525313"	"00007349"	"30"	"984"	"0"	"984"	"0"	"c.984G>C"	"r.(?)"	"p.(Thr328=)"	"9"
"0000525315"	"00007349"	"10"	"756"	"0"	"756"	"0"	"c.756C>T"	"r.(?)"	"p.(Ala252=)"	""
"0000525316"	"00007349"	"30"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	""
"0000525317"	"00007349"	"10"	"398"	"-12"	"398"	"-12"	"c.398-12C>T"	"r.(=)"	"p.(=)"	""
"0000525318"	"00007349"	"30"	"348"	"0"	"348"	"0"	"c.348C>A"	"r.(?)"	"p.(Gly116=)"	""
"0000525320"	"00007349"	"30"	"-57"	"0"	"-57"	"0"	"c.-57G>C"	"r.(?)"	"p.(=)"	""
"0000609645"	"00007349"	"30"	"1299"	"0"	"1299"	"0"	"c.1299C>T"	"r.(?)"	"p.(Asn433=)"	""
"0000609646"	"00007349"	"30"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	""
"0000609647"	"00007349"	"30"	"115"	"6"	"115"	"6"	"c.115+6T>G"	"r.(=)"	"p.(=)"	"2i"
"0000621538"	"00007349"	"30"	"849"	"0"	"849"	"0"	"c.849C>T"	"r.(?)"	"p.(Asp283=)"	"9"
"0000651680"	"00007349"	"10"	"711"	"0"	"711"	"0"	"c.711C>T"	"r.(=)"	"p.(=)"	""
"0000655356"	"00007349"	"30"	"1681"	"-7"	"1681"	"-7"	"c.1681-7G>A"	"r.(=)"	"p.(=)"	"13i"
"0000677482"	"00007349"	"30"	"1025"	"0"	"1025"	"0"	"c.1025C>T"	"r.(?)"	"p.(Pro342Leu)"	""
"0000677483"	"00007349"	"30"	"-62"	"0"	"-62"	"0"	"c.-62C>T"	"r.(?)"	"p.(=)"	""
"0000684754"	"00007349"	"30"	"1027"	"0"	"1027"	"0"	"c.1027G>C"	"r.(?)"	"p.(Ala343Pro)"	""
"0000689488"	"00007349"	"90"	"1251"	"-1"	"1251"	"-1"	"c.1251-1G>A"	"r.spl?"	"p.?"	"10i"
"0000689489"	"00007349"	"30"	"1019"	"-5"	"1019"	"-5"	"c.1019-5C>T"	"r.spl?"	"p.?"	""
"0000720355"	"00007349"	"30"	"1281"	"0"	"1281"	"0"	"c.1281C>T"	"r.(?)"	"p.(Leu427=)"	""
"0000720356"	"00007349"	"30"	"1027"	"0"	"1027"	"0"	"c.1027G>C"	"r.(?)"	"p.(Ala343Pro)"	""
"0000720357"	"00007349"	"90"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000720358"	"00007349"	"30"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	""
"0000720359"	"00007349"	"50"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.(?)"	"p.(Cys73Ser)"	""
"0000802043"	"00007349"	"50"	"922"	"0"	"922"	"0"	"c.922T>A"	"r.(?)"	"p.(Ser308Thr)"	""
"0000814688"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000814689"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000814737"	"00007349"	"99"	"971"	"0"	"1018"	"24"	"c.971_1018+24del"	"r.?"	"p.(Lys324_Ala340delinsThr)"	"9_9i"
"0000814740"	"00007349"	"70"	"1768"	"0"	"1768"	"0"	"c.1768T>G"	"r.(?)"	"p.(Cys590Gly)"	"14"
"0000814741"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000814742"	"00007349"	"77"	"894"	"0"	"911"	"0"	"c.894_911dup"	"r.(?)"	"p.(Gln300_Thr305dup)"	"9"
"0000814743"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000814745"	"00007349"	"90"	"983"	"0"	"983"	"0"	"c.983C>G"	"r.(?)"	"p.(Thr328Arg)"	"9"
"0000814746"	"00007349"	"90"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000814820"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000814821"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000814822"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000814823"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000814842"	"00007349"	"90"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000815217"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000815218"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000815706"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000815707"	"00007349"	"70"	"1027"	"0"	"1027"	"0"	"c.1027G>C"	"r.(?)"	"p.(Ala343Pro)"	"10"
"0000815708"	"00007349"	"70"	"1027"	"0"	"1027"	"0"	"c.1027G>C"	"r.(?)"	"p.(Ala343Pro)"	"10"
"0000815718"	"00007349"	"79"	"1681"	"-1"	"1681"	"-1"	"c.1681-1G>A"	"r.spl?"	"p.?"	"13i"
"0000815719"	"00007349"	"90"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000815720"	"00007349"	"99"	"971"	"0"	"1018"	"24"	"c.971_1018+24del"	"r.?"	"p.(Lys324_Ala340delinsThr)"	"9_9i"
"0000815721"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000815722"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000815724"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000815745"	"00007349"	"99"	"859"	"0"	"859"	"0"	"c.859T>A"	"r.(?)"	"p.(Trp287Arg)"	"9"
"0000815746"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000815849"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000815925"	"00007349"	"99"	"1681"	"-1"	"1681"	"-1"	"c.1681-1G>A"	"r.spl?"	"p.?"	"13i"
"0000818052"	"00007349"	"70"	"1396"	"0"	"1396"	"0"	"c.1396C>A"	"r.(?)"	"p.(Arg466Ser)"	"12"
"0000818053"	"00007349"	"50"	"721"	"0"	"721"	"0"	"c.721T>G"	"r.(?)"	"p.(Trp241Gly)"	"8"
"0000818628"	"00007349"	"70"	"1530"	"0"	"1530"	"0"	"c.1530G>C"	"r.(?)"	"p.(Glu510Asp)"	"12"
"0000859885"	"00007349"	"90"	"1019"	"-2"	"1019"	"-2"	"c.1019-2A>C"	"r.spl?"	"p.?"	"9i"
"0000859886"	"00007349"	"30"	"552"	"0"	"552"	"0"	"c.552C>T"	"r.(?)"	"p.(Leu184=)"	""
"0000871229"	"00007349"	"11"	"-4"	"0"	"-4"	"0"	"c.-4T>C"	"r.(?)"	"p.(=)"	"1"
"0000878917"	"00007349"	"90"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000886770"	"00007349"	"30"	"1027"	"0"	"1027"	"0"	"c.1027G>C"	"r.(?)"	"p.(Ala343Pro)"	""
"0000886771"	"00007349"	"30"	"914"	"0"	"914"	"0"	"c.914C>T"	"r.(?)"	"p.(Thr305Ile)"	"9"
"0000908426"	"00007349"	"99"	"1681"	"0"	"1681"	"0"	"c.1681G>A"	"r.(?)"	"p.(Gly561Ser)"	"14"
"0000908427"	"00007349"	"90"	"1556"	"0"	"1556"	"0"	"c.1556T>A"	"r.(?)"	"p.(Leu519Gln)"	"13"
"0000908428"	"00007349"	"90"	"1748"	"0"	"1748"	"0"	"c.1748T>A"	"r.(?)"	"p.(Ile583Asn)"	"14"
"0000908429"	"00007349"	"99"	"1561"	"0"	"1561"	"0"	"c.1561G>A"	"r.(?)"	"p.(Glu521Lys)"	"13"
"0000908518"	"00007349"	"99"	"1681"	"0"	"1681"	"0"	"c.1681G>A"	"r.(?)"	"p.(Gly561Ser)"	"14"
"0000908519"	"00007349"	"99"	"1681"	"0"	"1681"	"0"	"c.1681G>A"	"r.(?)"	"p.(Gly561Ser)"	"14"
"0000908520"	"00007349"	"99"	"1681"	"0"	"1681"	"0"	"c.1681G>A"	"r.(?)"	"p.(Gly561Ser)"	"14"
"0000908521"	"00007349"	"30"	"-4811"	"0"	"-4811"	"0"	"c.-4811A>G"	"r.(=)"	"p.(=)"	"_1"
"0000912291"	"00007349"	"30"	"1388"	"-15"	"1388"	"-15"	"c.1388-15C>G"	"r.(=)"	"p.(=)"	""
"0000912292"	"00007349"	"30"	"1251"	"-9"	"1251"	"-9"	"c.1251-9C>G"	"r.(=)"	"p.(=)"	""
"0000912293"	"00007349"	"70"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.(?)"	"p.(Cys73Ser)"	"4"
"0000916982"	"00007349"	"90"	"1532"	"-1"	"1532"	"-1"	"c.1532-1G>A"	"r.spl"	"p.?"	"12i"
"0000916983"	"00007349"	"90"	"615"	"0"	"615"	"0"	"c.615del"	"r.(?)"	"p.(Gly206Glufs*45)"	"7"
"0000916984"	"00007349"	"90"	"1182"	"0"	"1183"	"0"	"c.1182_1183del"	"r.(?)"	"p.(His394Glnfs*39)"	"10"
"0000916990"	"00007349"	"90"	"-62"	"0"	"-62"	"0"	"c.-62C>T"	"r.(=)"	"p.(=)"	""
"0000916992"	"00007349"	"90"	"-57"	"0"	"-57"	"0"	"c.-57G>C"	"r.(=)"	"p.(=)"	""
"0000918277"	"00007349"	"90"	"1638"	"0"	"1638"	"0"	"c.1638G>A"	"r.(?)"	"p.(Met546Ile)"	"13"
"0000920500"	"00007349"	"99"	"1681"	"-1"	"1681"	"-1"	"c.1681-1G>A"	"r.spl?"	"p.?"	"13i"
"0000929056"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000933298"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000933362"	"00007349"	"99"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.?"	"p.(Arg2Tyr)"	"1"
"0000933464"	"00007349"	"77"	"1583"	"0"	"1583"	"0"	"c.1583C>T"	"r.(?)"	"p.(Ser528Phe)"	"13"
"0000933465"	"00007349"	"77"	"1744"	"0"	"1744"	"0"	"c.1744G>A"	"r.(?)"	"p.(Gly582Ser)"	"14"
"0000933466"	"00007349"	"77"	"405"	"0"	"405"	"0"	"c.405C>A"	"r.(?)"	"p.(Cys135*)"	"6"
"0000933468"	"00007349"	"99"	"1093"	"0"	"1094"	"0"	"c.1093_1094insC"	"r.(?)"	"p.(Lys365Thrfs*69)"	"10"
"0000948533"	"00007349"	"30"	"1018"	"12"	"1018"	"12"	"c.1018+12G>C"	"r.(=)"	"p.(=)"	""
"0000951917"	"00007349"	"77"	"346"	"0"	"346"	"0"	"c.346G>A"	"r.(?)"	"p.(Gly116Ser)"	"5"
"0000951918"	"00007349"	"77"	"1583"	"0"	"1583"	"0"	"c.1583C>A"	"r.(?)"	"p.(Ser528Tyr)"	"13"
"0000952281"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000952282"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000952283"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000952284"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000952285"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000953801"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000953802"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000954159"	"00007349"	"99"	"181"	"0"	"181"	"0"	"c.181T>C"	"r.(?)"	"p.(Cys61Arg)"	"3"
"0000954160"	"00007349"	"99"	"1176"	"0"	"1176"	"0"	"c.1176G>A"	"r.(?)"	"p.(Trp392*)"	"10"
"0000954161"	"00007349"	"99"	"566"	"0"	"566"	"0"	"c.566G>C"	"r.(?)"	"p.(Cys189Ser)"	"7"
"0000954164"	"00007349"	"77"	"1744"	"0"	"1744"	"0"	"c.1744G>A"	"r.(?)"	"p.(Gly582Ser)"	"14"
"0000954356"	"00007349"	"30"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	"6"
"0000960057"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0000988414"	"00007349"	"99"	"1515"	"0"	"1515"	"0"	"c.1515G>C"	"r.(?)"	"p.(Trp505Cys)"	"12"
"0001018825"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0001023920"	"00007349"	"99"	"1768"	"0"	"1768"	"0"	"c.1768T>A"	"r.(?)"	"p.(Cys590Ser)"	"14"
"0001025071"	"00007349"	"90"	"1681"	"-1"	"1681"	"-1"	"c.1681-1G>A"	"r.spl?"	"p.?"	""
"0001025072"	"00007349"	"30"	"116"	"-224"	"116"	"-224"	"c.116-224T>C"	"r.(=)"	"p.(=)"	"2i"
"0001030027"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0001030318"	"00007349"	"99"	"971"	"0"	"1018"	"24"	"c.971_1018+24del"	"r.?"	"p.(Lys324_Ala340delinsThr)"	"9_9i"
"0001045006"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0001045073"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0001046022"	"00007349"	"90"	"827"	"0"	"827"	"0"	"c.827G>A"	"r.(?)"	"p.(Trp276*)"	""
"0001046023"	"00007349"	"50"	"223"	"0"	"223"	"0"	"c.223A>G"	"r.(?)"	"p.(Thr75Ala)"	"4"
"0001047019"	"00007349"	"33"	"619"	"0"	"619"	"0"	"c.619G>C"	"r.(?)"	"p.(Ala207Pro)"	"7"
"0001047572"	"00007349"	"99"	"983"	"0"	"983"	"0"	"c.983C>A"	"r.(?)"	"p.(Thr328Lys)"	"9"
"0001049417"	"00007349"	"77"	"1092"	"0"	"1092"	"0"	"c.1092dup"	"r.(?)"	"p.(Lys365Glnfs*69)"	"10"
"0001049419"	"00007349"	"77"	"1792"	"0"	"1796"	"0"	"c.1792_1796del"	"r.(?)"	"p.(Val598Hisfs*32)"	"14"
"0001049438"	"00007349"	"99"	"1115"	"0"	"1115"	"0"	"c.1115G>C"	"r.(?)"	"p.(Arg372Pro)"	"10"
"0001057708"	"00007349"	"70"	"529"	"4"	"529"	"4"	"c.529+4A>G"	"r.spl?"	"p.?"	"6i"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 86
"{{screeningid}}"	"{{variantid}}"
"0000025012"	"0000047869"
"0000241582"	"0000487593"
"0000294991"	"0000651680"
"0000309852"	"0000684754"
"0000386875"	"0000814688"
"0000386875"	"0001030318"
"0000386876"	"0000814689"
"0000386919"	"0000814737"
"0000386920"	"0000814740"
"0000386921"	"0000814741"
"0000386922"	"0000814742"
"0000386923"	"0000814743"
"0000386924"	"0000814745"
"0000386925"	"0000814746"
"0000386971"	"0000814820"
"0000386972"	"0000814821"
"0000386973"	"0000814822"
"0000386974"	"0000814823"
"0000386993"	"0000814842"
"0000387333"	"0000815217"
"0000387334"	"0000815218"
"0000387597"	"0000815706"
"0000387598"	"0000815707"
"0000387599"	"0000815708"
"0000387600"	"0000815718"
"0000387601"	"0000815719"
"0000387602"	"0000815720"
"0000387603"	"0000815721"
"0000387604"	"0000815722"
"0000387605"	"0000815724"
"0000387611"	"0000815745"
"0000387617"	"0000815746"
"0000387715"	"0000815849"
"0000387770"	"0000815925"
"0000389167"	"0000818052"
"0000389167"	"0000818053"
"0000389537"	"0000818628"
"0000413714"	"0000871229"
"0000418992"	"0000878917"
"0000429010"	"0000908426"
"0000429011"	"0000908427"
"0000429011"	"0000908520"
"0000429012"	"0000908428"
"0000429013"	"0000908429"
"0000429013"	"0000908521"
"0000429102"	"0000908518"
"0000429103"	"0000908519"
"0000431706"	"0000916982"
"0000431707"	"0000916983"
"0000431708"	"0000916984"
"0000431715"	"0000916990"
"0000431717"	"0000916992"
"0000432706"	"0000918277"
"0000434646"	"0000920500"
"0000437869"	"0000933298"
"0000437908"	"0000933362"
"0000437974"	"0000933464"
"0000437974"	"0000933465"
"0000437975"	"0000933466"
"0000437976"	"0000933468"
"0000445053"	"0000951917"
"0000445053"	"0000951918"
"0000445363"	"0000952281"
"0000445364"	"0000952282"
"0000445365"	"0000952283"
"0000445366"	"0000952284"
"0000445367"	"0000952285"
"0000445658"	"0000953801"
"0000445659"	"0000953802"
"0000445950"	"0000954159"
"0000445951"	"0000954160"
"0000445952"	"0000954161"
"0000445954"	"0000954164"
"0000449625"	"0000960057"
"0000453666"	"0000988414"
"0000459881"	"0001018825"
"0000463867"	"0001023920"
"0000466168"	"0001030027"
"0000467237"	"0001045006"
"0000467269"	"0001045073"
"0000467728"	"0001047019"
"0000468089"	"0001047572"
"0000469212"	"0001049417"
"0000469213"	"0001049419"
"0000469219"	"0001049438"
"0000469663"	"0001057708"