### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FOXC2) # 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}}" "FOXC2" "forkhead box C2 (MFH-1, mesenchyme forkhead 1)" "16" "q24.1" "unknown" "NG_012025.1" "UD_132118555017" "" "https://www.LOVD.nl/FOXC2" "" "1" "3801" "2303" "602402" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/FOXC2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-10 00:00:00" "00006" "2018-05-11 17:34:12" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00008070" "FOXC2" "forkhead box C2 (MFH-1, mesenchyme forkhead 1)" "001" "NM_005251.2" "" "NP_005242.1" "" "" "" "-85" "1598" "1506" "86600857" "86602539" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00884" "LDS" "Loeys-Dietz syndrome (LDS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01419" "LPHDST" "Lymphedema-distichiasis syndrome" "AD" "153400" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FOXC2" "01419" ## Individuals ## Do not remove or alter this header ## ## Count = 105 "{{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}}" "00055224" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055225" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055226" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00055227" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055228" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00055229" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055230" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055231" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055232" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055233" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055234" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055235" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00055236" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055237" "" "" "" "2" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055238" "" "" "" "7" "" "00125" "" "7 affecteds" "" "" "" "" "0" "" "" "" "" "00055239" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055240" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055241" "" "" "" "3" "" "00125" "" "affecteds in 3 generations" "" "" "" "" "0" "" "" "" "" "00055242" "" "" "" "3" "" "00125" "" "affecteds in 3 generations" "" "" "" "" "0" "" "" "" "" "00055243" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055244" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055245" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055246" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055247" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055248" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055249" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055250" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055251" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055252" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055255" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055256" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055257" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055258" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055259" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055260" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055261" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055262" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055263" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055264" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055265" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055266" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055267" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055268" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055269" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055270" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055271" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00055272" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00055274" "" "" "" "7" "" "00125" "{PMID:Bahua 2002:12485195}" "4-generation family, 7 affecteds" "" "no" "" "" "0" "" "" "" "" "00055275" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055276" "" "" "" "1" "" "00125" "{PMID:Brooks 2003:14566319}" "" "" "" "" "" "0" "" "" "" "" "00055277" "" "" "" "6" "" "00125" "{PMID:Yildirim-Toruner 2004:15523639}" "3-generation family, 6 affecteds" "" "" "" "" "0" "" "" "" "" "00055278" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055279" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055280" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055281" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055282" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055283" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055284" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055285" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055286" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055287" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055288" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055289" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055291" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055292" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055293" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055294" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055295" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055296" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055297" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055298" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055299" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055300" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055301" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055608" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00055609" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00055610" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00055611" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00055612" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00055613" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00055825" "" "" "" "1" "" "00006" "" "" "F" "" "" "1d" "0" "" "" "" "" "00055826" "" "" "" "1" "" "00006" "" "" "M" "" "" "?" "0" "" "" "" "" "00055827" "" "" "" "1" "" "00006" "" "" "M" "" "" "40d" "0" "" "" "" "" "00055828" "" "" "" "1" "" "00006" "" "" "F" "" "" "15d" "0" "" "" "" "" "00055829" "" "" "" "1" "" "00006" "" "" "M" "" "" "18d" "0" "" "" "" "" "00055830" "" "" "" "1" "" "00006" "" "" "F" "" "" "25d" "0" "" "" "" "" "00055831" "" "" "" "2" "" "00006" "" "mother with umbilical hernia" "F" "" "" ">3y" "0" "" "" "" "" "00055934" "" "" "" "1" "" "00567" "" "" "" "" "" "" "0" "" "" "" "" "00055935" "" "" "" "7" "" "00006" "{PMID:de Bruyn 2012:21918810}" "family, 7 affected" "" "" "" "" "0" "" "" "" "" "00055936" "" "" "" "3" "" "00006" "{PMID:Sutkowska 2012:22349027}" "family, 3 affected" "" "" "" "" "0" "" "" "" "" "00055937" "" "" "" "10" "" "00006" "{PMID:Ogura 2013:24278289}" "Family, 10 affecteds" "" "" "Japan" "" "0" "" "" "" "" "00055938" "" "" "" "3" "" "00006" "{PMID:Ogura 2013:24278289}" "family, 3 affected" "" "" "Japan" "" "0" "" "" "" "" "00055939" "" "" "" "1" "" "00006" "{PMID: Mendola 2013:24167460}" "Family-18" "" "yes" "" "" "0" "" "" "" "" "00055940" "" "" "" "1" "" "00006" "{PMID: Mendola 2013:24167460}" "Family-19" "" "" "" "" "0" "" "" "" "" "00055941" "" "" "" "1" "" "00006" "{PMID: Mendola 2013:24167460}" "Family-20" "" "" "" "" "0" "" "" "" "" "00055942" "" "" "" "1" "" "00006" "{PMID: Mendola 2013:24167460}" "Family-21" "" "" "" "" "0" "" "" "" "" "00055943" "" "" "" "1" "" "00006" "{PMID:Mendola 2013:24167460}" "Family-22" "" "" "" "" "0" "" "" "" "" "00055944" "" "" "" "1" "" "00006" "{PMID:Mendola 2013:24167460}" "" "" "" "" "" "0" "" "" "" "" "00055945" "" "" "" "1" "" "00006" "{PMID:Mendola 2013:24167460}" "" "" "" "" "" "0" "" "" "" "" "00055946" "" "" "" "1" "" "00006" "{PMID:Mendola 2013:24167460}" "" "" "" "" "" "0" "" "" "" "" "00163854" "" "" "" "1" "" "01764" "{PMID:Mendola 2013:24167460}" "" "" "" "Belgium" "" "0" "" "" "" "LE-50" "00213477" "" "" "" "1" "" "00006" "{PMID:Reynhout 2019:30595372}" "" "F" "" "" "" "0" "" "" "" "30595372-Pat2" "00316095" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "" "" "" "France" "" "0" "" "" "" "K129" "00386488" "" "" "" "1" "" "04190" "" "" "F" "yes" "(China)" "" "0" "" "" "" "" "00453795" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV982" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 105 "{{individualid}}" "{{diseaseid}}" "00055224" "01419" "00055225" "01419" "00055226" "00000" "00055227" "01419" "00055228" "00000" "00055229" "01419" "00055230" "01419" "00055231" "01419" "00055232" "01419" "00055233" "01419" "00055234" "01419" "00055235" "00000" "00055236" "01419" "00055237" "01419" "00055238" "01419" "00055239" "01419" "00055240" "01419" "00055241" "01419" "00055242" "01419" "00055243" "01419" "00055244" "01419" "00055245" "01419" "00055246" "01419" "00055247" "01419" "00055248" "01419" "00055249" "01419" "00055250" "01419" "00055251" "01419" "00055252" "01419" "00055255" "01419" "00055256" "01419" "00055257" "01419" "00055258" "01419" "00055259" "01419" "00055260" "01419" "00055261" "01419" "00055262" "01419" "00055263" "01419" "00055264" "01419" "00055265" "01419" "00055266" "01419" "00055267" "01419" "00055268" "01419" "00055269" "01419" "00055270" "01419" "00055271" "00000" "00055272" "00000" "00055274" "01419" "00055275" "01419" "00055276" "01419" "00055277" "01419" "00055278" "01419" "00055279" "01419" "00055280" "01419" "00055281" "01419" "00055282" "01419" "00055283" "01419" "00055284" "01419" "00055285" "01419" "00055286" "01419" "00055287" "01419" "00055288" "01419" "00055289" "01419" "00055291" "00198" "00055292" "01419" "00055293" "01419" "00055294" "01419" "00055295" "01419" "00055296" "01419" "00055297" "01419" "00055298" "01419" "00055299" "01419" "00055300" "01419" "00055301" "01419" "00055608" "01419" "00055609" "01419" "00055610" "01419" "00055611" "01419" "00055612" "01419" "00055613" "01419" "00055825" "00198" "00055826" "00198" "00055827" "00198" "00055828" "00198" "00055829" "00198" "00055830" "00198" "00055831" "00198" "00055934" "01419" "00055935" "01419" "00055936" "01419" "00055937" "01419" "00055938" "01419" "00055939" "01419" "00055940" "01419" "00055941" "01419" "00055942" "01419" "00055943" "01419" "00055944" "01419" "00055945" "01419" "00055946" "01419" "00163854" "01419" "00213477" "00139" "00316095" "05342" "00386488" "00884" "00453795" "00152" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00152, 00198, 00884, 01419, 05342 ## Count = 99 "{{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}}" "0000041879" "01419" "00055224" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041880" "01419" "00055225" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041882" "01419" "00055227" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041884" "01419" "00055229" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041885" "01419" "00055230" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041886" "01419" "00055231" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041887" "01419" "00055232" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041888" "01419" "00055233" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041889" "01419" "00055234" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041891" "01419" "00055236" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041892" "01419" "00055237" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041893" "01419" "00055238" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041894" "01419" "00055239" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041895" "01419" "00055240" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041896" "01419" "00055241" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041897" "01419" "00055242" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041898" "01419" "00055243" "00125" "Isolated (sporadic)" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041899" "01419" "00055244" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041900" "01419" "00055245" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041901" "01419" "00055246" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041902" "01419" "00055247" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041903" "01419" "00055248" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041904" "01419" "00055249" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041905" "01419" "00055250" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041906" "01419" "00055251" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041907" "01419" "00055252" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041910" "01419" "00055255" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041911" "01419" "00055256" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041912" "01419" "00055257" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041913" "01419" "00055258" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041914" "01419" "00055259" "00125" "Isolated (sporadic)" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041915" "01419" "00055260" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041916" "01419" "00055261" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041917" "01419" "00055262" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041918" "01419" "00055263" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041919" "01419" "00055264" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041920" "01419" "00055265" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041921" "01419" "00055266" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041922" "01419" "00055267" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041923" "01419" "00055268" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041924" "01419" "00055269" "00125" "Isolated (sporadic)" "" "lymphoedema distichiasis?" "" "" "" "" "" "" "" "" "" "" "" "0000041925" "01419" "00055270" "00125" "Familial" "" "lymphoedema distichiasis?" "" "" "" "" "" "" "" "" "" "" "" "0000041929" "01419" "00055274" "00125" "Familial, autosomal dominant" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041930" "01419" "00055275" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041931" "01419" "00055276" "00125" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041932" "01419" "00055277" "00125" "Familial, autosomal dominant" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041933" "01419" "00055278" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041934" "01419" "00055279" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041935" "01419" "00055280" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041936" "01419" "00055281" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041937" "01419" "00055282" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041938" "01419" "00055283" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041939" "01419" "00055284" "00125" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041940" "01419" "00055285" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041941" "01419" "00055286" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041942" "01419" "00055287" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041943" "01419" "00055288" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041944" "01419" "00055289" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041946" "00198" "00055291" "00125" "Isolated (sporadic)" "" "oedema, prenatal, generalised" "" "" "" "" "" "" "" "" "" "" "" "0000041947" "01419" "00055292" "00125" "Familial" "" "lymphoedema" "" "" "" "" "" "" "" "" "" "" "" "0000041948" "01419" "00055293" "00125" "Unknown" "" "lymphoedema" "" "" "" "" "" "" "" "" "" "" "" "0000041949" "01419" "00055294" "00125" "Familial" "" "lymphoedema" "" "" "" "" "" "" "" "" "" "" "" "0000041950" "01419" "00055295" "00125" "Unknown" "" "lymphoedema" "" "" "" "" "" "" "" "" "" "" "" "0000041951" "01419" "00055296" "00125" "Familial" "" "lymphoedema" "" "" "" "" "" "" "" "" "" "" "" "0000041952" "01419" "00055297" "00125" "Unknown" "" "lymphoedema" "" "" "" "" "" "" "" "" "" "" "" "0000041953" "01419" "00055298" "00125" "Unknown" "" "lymphoedema" "" "" "" "" "" "" "" "" "" "" "" "0000041954" "01419" "00055299" "00125" "Familial" "" "lymphoedema" "" "" "" "" "" "" "" "" "" "" "" "0000041955" "01419" "00055300" "00125" "Isolated (sporadic)" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000041956" "01419" "00055301" "00125" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000042263" "01419" "00055608" "00006" "Familial" "" "lymphedema-distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000042264" "01419" "00055609" "00006" "Unknown" "" "lymphoedema-distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000042265" "01419" "00055610" "00006" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000042266" "01419" "00055611" "00006" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000042267" "01419" "00055612" "00006" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000042268" "01419" "00055613" "00006" "Familial" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000042480" "00198" "00055825" "00006" "Isolated (sporadic)" "" "alveolar capillary dysplasia, misalignment pulmonary veins (ACD/MPV); died from pulmonary insufficiency; gestation 28w; birth weight 1091g; respiratory ACD/MPV, pulmonary lymphangiectasia; patent ductus arteriosus; esophageal atresia, tracheo-esophageal fistula, abnormal placement anus; Single umbilical artery" "" "" "esophageal atresia" "" "" "" "" "" "" "" "" "0000042481" "00198" "00055826" "00006" "Isolated (sporadic)" "" "elective termination pregnancy 22w; hypoplastic left heart syndrome; dilated renal pelvices" "" "" "" "" "" "" "" "" "" "" "" "0000042482" "00198" "00055827" "00006" "Isolated (sporadic)" "" "alveolar capillary dysplasia, misalignment pulmonary veins (ACD/MPV); died from pulmonary insufficiency; elective C-section 38w; birth weight 2900g; respiratory ACD/MPV, persistent pulmonary hypertension, extracorporeal membrane oxygenation dependent (veno-veno); Tetralogy of Fallot, patent ductus arteriosus; duodenal atresia with annular pancreas, imperforate anus; bilateral hydronephrosis, mod right, severe left; Single umbilical artery" "" "" "" "" "" "" "" "" "" "" "" "0000042483" "00198" "00055828" "00006" "Isolated (sporadic)" "" "alveolar capillary dysplasia, misalignment pulmonary veins (ACD/MPV); died from pulmonary insufficiency; elective C-section 37w; respiratory ACD/MPV, left pneumothorax, hypoxemia, surfactant therapy, extracorporeal membrane oxygenation; hypoplastic left heart syndrome; mild uretero-pelvic caliectasis; T11 butterfly vertebra; cleft lip, cleft palate, brachycephaly, single umbilical artery" "" "" "" "" "" "" "" "" "" "" "" "0000042484" "00198" "00055829" "00006" "Isolated (sporadic)" "" "severe respiratory distress; died from pulmonary insufficiency; extracorporeal membrane oxygenation dependent; interrupted aortic arch, dilated pulmonary artery, large patent ductus arteriosus, decreased size left ventricle, pulmonary hypertension; bilateral renal pelviectasis; posterior rib fusions 10/11 (right side), 9/10 and 11/12 (left side)" "" "" "" "" "" "" "" "" "" "" "" "0000042485" "00198" "00055830" "00006" "Isolated (sporadic)" "" "birth weight 3676g; respiratory ACD/MPV, persistent pulmonary hypertension, lung biopsy done; patent ductus arteriosus, ligated; ECG structurally normal heart; adhesions bowel loops, 2nd part duodenum, gallbladder, no malrotation at laparotomy" "" "" "" "" "" "" "" "" "" "" "" "0000042486" "00198" "00055831" "00006" "Isolated (sporadic)" "" "spontaneous atrial septal defect closing; diastasis recti (14m-6 cm); dilated and tortuous ureters bilaterally with left hydronephrosis; CNS, ventriculomegaly, Chiari malformation and syrinx, meningeal cysts at T2-T3, developmental delay, o/e hypertelorism and broad forehead similar to mother, low-set ears, cafe-au-lait patch R buttock and L lower scapula, healing capillary hemangioma L buttock" "" "" "" "" "" "" "" "" "" "" "" "0000042589" "01419" "00055934" "00567" "Familial, autosomal dominant" "" "lymphoedema distichiasis, Pierre Robin sequence, lymphoedema, distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000042590" "01419" "00055935" "00006" "Familial, autosomal dominant" "" "lymphoedema distichiasis, hydrops fetalis and pulmonary lymphangiectasia" "" "" "" "" "" "" "" "" "" "" "" "0000042591" "01419" "00055936" "00006" "Familial, autosomal dominant" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000042592" "01419" "00055937" "00006" "Familial, autosomal dominant" "" "lymphoedema distichiasis, SEDAC" "" "" "" "" "" "" "" "" "" "" "" "0000042593" "01419" "00055938" "00006" "Familial, autosomal dominant" "" "lymphoedema distichiasis, SEDAC" "" "" "" "" "" "" "" "" "" "" "" "0000042594" "01419" "00055939" "00006" "Familial, autosomal dominant" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000042595" "01419" "00055940" "00006" "Familial, autosomal dominant" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000042596" "01419" "00055941" "00006" "Familial, autosomal dominant" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000042597" "01419" "00055942" "00006" "Familial, autosomal dominant" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000042598" "01419" "00055943" "00006" "Familial, autosomal dominant" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000042599" "01419" "00055944" "00006" "Familial, autosomal dominant" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000042600" "01419" "00055945" "00006" "Unknown" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000042601" "01419" "00055946" "00006" "Isolated (sporadic)" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000128966" "01419" "00163854" "01764" "Isolated (sporadic)" "" "lymphoedema distichiasis" "" "" "" "" "" "" "" "" "" "" "" "0000161940" "00139" "00213477" "00006" "Isolated (sporadic)" "7y" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000239842" "05342" "00316095" "00006" "Unknown" "" "renal dysplasia; cysts; diabetes" "" "" "" "" "" "" "" "" "" "renal dysplasia" "" "0000342452" "00152" "00453795" "00006" "Unknown" "" "ventricular septal defect patch closure; coarctation, ventricular septal defect" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" ## Screenings ## Do not remove or alter this header ## ## Count = 105 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000055177" "00055224" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2014-04-25 20:02:51" "SEQ" "DNA" "" "" "0000055178" "00055225" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 22:18:02" "SEQ" "DNA" "" "" "0000055179" "00055226" "1" "00006" "00006" "2011-10-22 15:10:30" "" "" "SEQ" "DNA" "" "" "0000055180" "00055227" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 22:48:06" "SEQ" "DNA" "" "" "0000055181" "00055228" "1" "00006" "00006" "2011-10-22 15:10:30" "" "" "SEQ" "DNA" "" "" "0000055182" "00055229" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 22:49:13" "SEQ" "DNA" "" "" "0000055183" "00055230" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2014-04-25 20:02:02" "SEQ" "DNA" "" "" "0000055184" "00055231" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 22:34:30" "SEQ" "DNA" "" "" "0000055185" "00055232" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 22:49:45" "SEQ" "DNA" "" "" "0000055186" "00055233" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 22:37:58" "SEQ" "DNA" "" "" "0000055187" "00055234" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 22:40:12" "SEQ" "DNA" "" "" "0000055188" "00055235" "1" "00006" "00006" "2011-10-22 15:10:30" "" "" "SEQ" "DNA" "" "" "0000055189" "00055236" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 22:44:24" "SEQ" "DNA" "" "" "0000055190" "00055237" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 22:31:48" "SEQ" "DNA" "" "" "0000055191" "00055238" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 22:32:35" "SEQ" "DNA" "" "" "0000055192" "00055239" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 22:29:26" "SEQ" "DNA" "" "" "0000055193" "00055240" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-11-29 22:50:07" "SEQ" "DNA" "" "" "0000055194" "00055241" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-11-29 23:03:50" "SEQ" "DNA" "" "" "0000055195" "00055242" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-11-29 23:08:22" "SEQ" "DNA" "" "" "0000055196" "00055243" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 21:51:32" "SEQ" "DNA" "" "" "0000055197" "00055244" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-11-27 22:47:12" "SEQ" "DNA" "" "" "0000055198" "00055245" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 21:28:58" "SEQ" "DNA" "" "" "0000055199" "00055246" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 21:14:35" "SEQ" "DNA" "" "" "0000055200" "00055247" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 21:22:43" "SEQ" "DNA" "" "" "0000055201" "00055248" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 21:45:59" "SEQ" "DNA" "" "" "0000055202" "00055249" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 20:57:37" "SEQ" "DNA" "" "" "0000055203" "00055250" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-11-29 23:22:20" "SEQ" "DNA" "" "" "0000055204" "00055251" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-11-29 23:19:01" "SEQ" "DNA" "" "" "0000055205" "00055252" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 21:42:52" "SEQ" "DNA" "" "" "0000055208" "00055255" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2014-04-25 20:03:38" "SEQ" "DNA" "" "" "0000055209" "00055256" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 23:04:52" "SEQ" "DNA" "" "" "0000055210" "00055257" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 22:57:56" "SEQ" "DNA" "" "" "0000055211" "00055258" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 23:06:05" "SEQ" "DNA" "" "" "0000055212" "00055259" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 23:03:36" "SEQ" "DNA" "" "" "0000055213" "00055260" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2014-04-25 20:08:01" "SEQ" "DNA" "" "" "0000055214" "00055261" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-04 23:13:39" "SEQ" "DNA" "" "" "0000055215" "00055262" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-06 21:23:43" "SEQ" "DNA" "" "" "0000055216" "00055263" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-06 21:15:25" "SEQ" "DNA" "" "" "0000055217" "00055264" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-06 21:47:36" "SEQ" "DNA" "" "" "0000055218" "00055265" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2014-04-25 20:04:47" "SEQ" "DNA" "" "" "0000055219" "00055266" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2014-04-25 20:05:26" "SEQ" "DNA" "" "" "0000055220" "00055267" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-06 21:28:42" "SEQ" "DNA" "" "" "0000055221" "00055268" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-06 21:33:40" "SEQ" "DNA" "" "" "0000055222" "00055269" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-06 19:50:08" "SEQ" "DNA" "" "" "0000055223" "00055270" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2014-04-25 20:06:43" "SEQ" "DNA" "" "" "0000055224" "00055271" "1" "00006" "00006" "2011-10-22 15:10:30" "" "" "SEQ" "DNA" "" "" "0000055225" "00055272" "1" "00006" "00006" "2011-10-22 15:10:30" "" "" "SEQ" "DNA" "" "" "0000055227" "00055274" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2014-04-25 16:16:51" "SEQ" "DNA" "" "" "0000055228" "00055275" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-06 22:55:51" "SEQ" "DNA" "" "" "0000055229" "00055276" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2014-04-25 16:51:13" "SEQ" "DNA" "" "" "0000055230" "00055277" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2014-04-25 16:31:27" "SEQ" "DNA" "" "" "0000055231" "00055278" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-06 23:06:30" "SEQ" "DNA" "" "" "0000055232" "00055279" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-14 23:19:40" "SEQ" "DNA" "" "" "0000055233" "00055280" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-06 23:07:57" "SEQ" "DNA" "" "" "0000055234" "00055281" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-06 23:09:33" "SEQ" "DNA" "" "" "0000055235" "00055282" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-06 23:11:24" "SEQ" "DNA" "" "" "0000055236" "00055283" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-06 22:28:48" "SEQ" "DNA" "" "" "0000055237" "00055284" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2014-04-25 20:06:05" "SEQ" "DNA" "" "" "0000055238" "00055285" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-06 22:59:46" "SEQ" "DNA" "" "" "0000055239" "00055286" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-06 22:37:47" "SEQ" "DNA" "" "" "0000055240" "00055287" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-06 23:00:56" "SEQ" "DNA" "" "" "0000055241" "00055288" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-06 23:02:02" "SEQ" "DNA" "" "" "0000055242" "00055289" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-06 23:03:27" "SEQ" "DNA" "" "" "0000055244" "00055291" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2014-04-25 20:07:29" "SEQ" "DNA" "" "" "0000055245" "00055292" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-12 22:15:53" "SEQ" "DNA" "" "" "0000055246" "00055293" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-12 22:21:59" "SEQ" "DNA" "" "" "0000055247" "00055294" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-12 21:38:24" "SEQ" "DNA" "" "" "0000055248" "00055295" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-12 22:25:46" "SEQ" "DNA" "" "" "0000055249" "00055296" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-12 21:57:08" "SEQ" "DNA" "" "" "0000055250" "00055297" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-12 22:42:19" "SEQ" "DNA" "" "" "0000055251" "00055298" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-12 22:36:35" "SEQ" "DNA" "" "" "0000055252" "00055299" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2014-04-25 20:01:23" "SEQ" "DNA" "" "" "0000055253" "00055300" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-14 23:05:27" "SEQ" "DNA" "" "" "0000055254" "00055301" "1" "00125" "00125" "2011-10-22 15:10:30" "00125" "2011-12-14 23:11:14" "SEQ" "DNA" "" "" "0000055561" "00055608" "1" "00006" "00125" "2011-12-04 22:03:15" "00125" "2011-12-04 22:05:04" "SEQ" "DNA" "" "" "0000055562" "00055609" "1" "00006" "00125" "2011-12-06 21:54:46" "00125" "2011-12-06 21:56:45" "SEQ" "DNA" "" "" "0000055563" "00055610" "1" "00006" "00125" "2011-12-12 22:03:12" "00125" "2011-12-12 22:10:10" "SEQ" "DNA" "" "" "0000055564" "00055611" "1" "00006" "00125" "2011-12-12 22:53:36" "00125" "2011-12-12 22:55:31" "SEQ" "DNA" "" "" "0000055565" "00055612" "1" "00006" "00125" "2011-12-12 22:59:52" "00125" "2011-12-12 23:01:48" "SEQ" "DNA" "" "" "0000055566" "00055613" "1" "00006" "00125" "2011-12-14 22:46:31" "00125" "2014-04-25 20:04:15" "SEQ" "DNA" "" "" "0000055778" "00055825" "1" "00006" "00006" "2012-11-24 11:38:29" "" "" "arrayCGH" "DNA" "" "" "0000055779" "00055826" "1" "00006" "00006" "2012-11-24 11:38:29" "" "" "arrayCGH;FISH" "DNA" "" "" "0000055780" "00055827" "1" "00006" "00006" "2012-11-24 11:38:29" "" "" "arrayCGH;FISH" "DNA" "" "" "0000055781" "00055828" "1" "00006" "00006" "2012-11-24 11:38:29" "" "" "arrayCGH;FISH" "DNA" "" "" "0000055782" "00055829" "1" "00006" "00006" "2012-11-24 11:38:29" "" "" "arrayCGH;FISH" "DNA" "" "" "0000055783" "00055830" "1" "00006" "00006" "2012-11-24 11:38:29" "00006" "2012-11-24 12:17:20" "arrayCGH" "DNA" "" "" "0000055784" "00055831" "1" "00006" "00006" "2012-11-24 11:38:29" "" "" "arrayCGH;FISH" "DNA" "" "" "0000055887" "00055934" "1" "00567" "00125" "2014-04-24 15:34:49" "00125" "2014-04-25 11:34:13" "SEQ" "DNA" "" "" "0000055888" "00055935" "1" "00006" "00125" "2014-04-25 17:01:03" "00125" "2014-04-25 17:02:13" "SEQ" "DNA" "" "" "0000055889" "00055936" "1" "00006" "00125" "2014-04-25 17:27:36" "00125" "2014-04-25 17:28:55" "SEQ" "DNA" "" "" "0000055890" "00055937" "1" "00006" "00125" "2014-04-25 17:41:39" "00125" "2014-04-25 17:42:34" "SEQ" "DNA" "" "" "0000055891" "00055938" "1" "00006" "00125" "2014-04-25 17:45:13" "00125" "2014-04-25 17:46:33" "SEQ" "DNA" "" "" "0000055892" "00055939" "1" "00006" "00125" "2014-04-25 19:25:10" "00125" "2014-04-25 19:29:10" "SEQ" "DNA" "" "" "0000055893" "00055940" "1" "00006" "00125" "2014-04-25 19:32:14" "00125" "2014-04-25 19:32:26" "SEQ" "DNA" "" "" "0000055894" "00055941" "1" "00006" "00125" "2014-04-25 19:34:55" "00125" "2014-04-25 19:35:40" "SEQ" "DNA" "" "" "0000055895" "00055942" "1" "00006" "00125" "2014-04-25 19:40:57" "00125" "2014-04-25 19:41:16" "SEQ" "DNA" "" "" "0000055896" "00055943" "1" "00006" "00125" "2014-04-25 19:45:43" "00125" "2014-04-25 19:46:18" "SEQ" "DNA" "" "" "0000055897" "00055944" "1" "00006" "00125" "2014-04-25 19:50:17" "00125" "2014-04-25 19:50:27" "SEQ" "DNA" "" "" "0000055898" "00055945" "1" "00006" "00125" "2014-04-25 19:53:28" "00125" "2014-04-25 19:53:39" "SEQ" "DNA" "" "" "0000055899" "00055946" "1" "00006" "00125" "2014-04-25 19:57:33" "00125" "2014-04-25 19:57:42" "SEQ" "DNA" "" "" "0000164718" "00163854" "1" "01764" "01764" "2010-04-14 13:55:50" "" "" "SEQ" "DNA" "" "" "0000214547" "00213477" "1" "00006" "00006" "2019-01-12 20:05:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317277" "00316095" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000387739" "00386488" "1" "04190" "04190" "2021-10-22 17:46:56" "" "" "SEQ" "DNA" "" "" "0000455407" "00453795" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 106 "{{screeningid}}" "{{geneid}}" "0000055177" "FOXC2" "0000055178" "FOXC2" "0000055179" "FOXC2" "0000055180" "FOXC2" "0000055181" "FOXC2" "0000055182" "FOXC2" "0000055183" "FOXC2" "0000055184" "FOXC2" "0000055185" "FOXC2" "0000055186" "FOXC2" "0000055187" "FOXC2" "0000055188" "FOXC2" "0000055189" "FOXC2" "0000055190" "FOXC2" "0000055191" "FOXC2" "0000055192" "FOXC2" "0000055193" "FOXC2" "0000055194" "FOXC2" "0000055195" "FOXC2" "0000055196" "FOXC2" "0000055197" "FOXC2" "0000055198" "FOXC2" "0000055199" "FOXC2" "0000055200" "FOXC2" "0000055201" "FOXC2" "0000055202" "FOXC2" "0000055203" "FOXC2" "0000055204" "FOXC2" "0000055205" "FOXC2" "0000055208" "FOXC2" "0000055209" "FOXC2" "0000055210" "FOXC2" "0000055211" "FOXC2" "0000055212" "FOXC2" "0000055213" "FOXC2" "0000055214" "FOXC2" "0000055215" "FOXC2" "0000055216" "FOXC2" "0000055217" "FOXC2" "0000055218" "FOXC2" "0000055219" "FOXC2" "0000055220" "FOXC2" "0000055221" "FOXC2" "0000055222" "FOXC2" "0000055223" "FOXC2" "0000055224" "FOXC2" "0000055225" "FOXC2" "0000055227" "FOXC2" "0000055228" "FOXC2" "0000055229" "FOXC2" "0000055230" "FOXC2" "0000055231" "FOXC2" "0000055232" "FOXC2" "0000055233" "FOXC2" "0000055234" "FOXC2" "0000055235" "FOXC2" "0000055236" "FOXC2" "0000055237" "FOXC2" "0000055238" "FOXC2" "0000055239" "FOXC2" "0000055240" "FOXC2" "0000055241" "FOXC2" "0000055242" "FOXC2" "0000055244" "FOXC2" "0000055245" "FOXC2" "0000055246" "FOXC2" "0000055247" "FOXC2" "0000055248" "FOXC2" "0000055249" "FOXC2" "0000055250" "FOXC2" "0000055251" "FOXC2" "0000055252" "FOXC2" "0000055253" "FOXC2" "0000055254" "FOXC2" "0000055561" "FOXC2" "0000055562" "FOXC2" "0000055563" "FOXC2" "0000055564" "FOXC2" "0000055565" "FOXC2" "0000055566" "FOXC2" "0000055778" "FOXC2" "0000055779" "FOXC2" "0000055780" "FOXC2" "0000055781" "FOXC2" "0000055782" "FOXC2" "0000055783" "FOXC2" "0000055784" "FOXC2" "0000055887" "FOXC2" "0000055888" "FOXC2" "0000055889" "FOXC2" "0000055890" "FOXC2" "0000055891" "FOXC2" "0000055892" "FOXC2" "0000055893" "FOXC2" "0000055894" "FOXC2" "0000055895" "FOXC2" "0000055896" "FOXC2" "0000055897" "FOXC2" "0000055898" "FOXC2" "0000055899" "FOXC2" "0000164718" "FOXC2" "0000214547" "PPP2CA" "0000317277" "EGFR" "0000317277" "FOXC2" "0000317277" "HOXA11" "0000387739" "FOXC2" ## 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 = 162 "{{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}}" "0000085198" "1" "90" "16" "86601238" "86601238" "subst" "0" "00125" "FOXC2_000062" "g.86601238C>G" "" "{PMID:Fang 2000:11078474}, {OMIM602402:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86567632C>G" "" "pathogenic" "" "0000085199" "1" "90" "16" "86602031" "86602034" "dup" "0" "00125" "FOXC2_000002" "g.86602031_86602034dup" "" "{PMID:Fang 2000:11078474}, {OMIM602402:0002}" "" "1093dupGGCC" "" "Germline" "yes" "" "0" "" "" "g.86568425_86568428dup" "" "pathogenic" "" "0000085200" "0" "10" "16" "86601049" "86601049" "subst" "0.00683864" "00006" "FOXC2_000003" "g.86601049C>T" "0.01" "{PMID:Finegold 2001:11371511}" "" "" "" "Unknown" "?" "" "0" "" "" "g.86567443C>T" "" "benign" "" "0000085201" "1" "90" "16" "86602179" "86602194" "del" "0" "00125" "FOXC2_000004" "g.86602179_86602194del" "" "{PMID:Finegold 2001:11371511}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86568573_86568588del" "" "pathogenic" "" "0000085202" "0" "10" "16" "86602337" "86602337" "subst" "0" "00006" "FOXC2_000005" "g.86602337C>T" "0.01" "{PMID:Finegold 2001:11371511}" "" "" "" "Unknown" "?" "" "0" "" "" "g.86568731C>T" "" "benign" "" "0000085203" "1" "90" "16" "86601173" "86601186" "dup" "0" "00125" "FOXC2_000006" "g.86601173_86601186dup" "" "{PMID:Finegold 2001:11371511}" "" "232_245dupATCGCGCTCATCAC" "" "Unknown" "?" "" "0" "" "" "g.86567567_86567580dup" "" "pathogenic" "" "0000085204" "1" "90" "16" "86601197" "86601197" "subst" "0" "00125" "FOXC2_000007" "g.86601197C>T" "" "{PMID:Finegold 2001:11371511}" "" "252C>T (Q84X)" "" "Germline" "yes" "" "0" "" "" "g.86567591C>T" "" "pathogenic" "" "0000085205" "1" "90" "16" "86601553" "86601553" "dup" "0" "00125" "FOXC2_000008" "g.86601553dup" "" "{PMID:Finegold 2001:11371511}" "" "609insC" "" "Germline" "yes" "" "0" "" "" "g.86567947dup" "" "pathogenic" "" "0000085206" "1" "90" "16" "86601843" "86601861" "del" "0" "00125" "FOXC2_000009" "g.86601843_86601861del" "" "{PMID:Finegold 2001:11371511}" "" "902del19" "" "Germline" "yes" "" "0" "" "" "g.86568237_86568255del" "" "pathogenic" "" "0000085207" "1" "90" "16" "86601843" "86601843" "del" "0" "00125" "FOXC2_000010" "g.86601843del" "" "{PMID:Finegold 2001:11371511}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86568237del" "" "pathogenic" "" "0000085208" "1" "90" "16" "86601871" "86601877" "dup" "0" "00125" "FOXC2_000011" "g.86601871_86601877dup" "" "{PMID:Finegold 2001:11371511}" "" "937insCGCCGCC" "" "Germline" "yes" "" "0" "" "" "g.86568265_86568271dup" "" "pathogenic" "" "0000085209" "0" "10" "16" "86599976" "86599976" "subst" "0" "00006" "FOXC2_000012" "g.86599976C>A" "0.01" "{PMID:Finegold 2001:11371511}" "" "" "" "Unknown" "?" "" "0" "" "" "g.86566370C>A" "" "benign" "" "0000085210" "1" "90" "16" "86601923" "86601924" "ins" "0" "00125" "FOXC2_000013" "g.86601923_86601924insT" "" "{PMID:Finegold 2001:11371511}" "" "983insT" "" "Germline" "yes" "" "0" "" "" "g.86568317_86568318insT" "" "pathogenic" "" "0000085211" "1" "90" "16" "86601529" "86601529" "dup" "0" "00125" "FOXC2_000014" "g.86601529dup" "" "{PMID:Finegold 2001:11371511}, {OMIM602402:0007}" "" "589insC" "" "Germline" "yes" "" "0" "" "" "g.86567923dup" "" "pathogenic" "" "0000085212" "1" "90" "16" "86601529" "86601529" "dup" "0" "00125" "FOXC2_000014" "g.86601529dup" "" "{PMID:Finegold 2001:11371511}, {OMIM602402:0007}" "" "589insC" "" "Germline" "yes" "" "0" "" "" "g.86567923dup" "" "pathogenic" "" "0000085213" "1" "90" "16" "86601450" "86601450" "del" "0" "00125" "FOXC2_000015" "g.86601450del" "" "{PMID:Finegold 2001:11371511}, {OMIM602402:0008}" "" "505delA" "" "Germline" "yes" "" "0" "" "" "g.86567844del" "" "pathogenic" "" "0000085214" "1" "90" "16" "86601231" "86601241" "del" "0" "00125" "FOXC2_000016" "g.86601231_86601241del" "" "{PMID:Bell 2001:11499682}, {OMIM602402:0003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86567625_86567635del" "" "pathogenic" "" "0000085215" "1" "90" "16" "86602272" "86602272" "del" "0" "00125" "FOXC2_000017" "g.86602272del" "" "{PMID:Bell 2001:11499682}, {OMIM602402:0004}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86568666del" "" "pathogenic" "" "0000085216" "1" "90" "16" "86601150" "86601150" "dup" "0" "00125" "FOXC2_000018" "g.86601150dup" "" "{PMID:Bell 2001:11499682}, {OMIM602402:0005}" "" "209-210insT" "" "Germline" "yes" "" "0" "" "" "g.86567544dup" "" "pathogenic" "" "0000085217" "1" "90" "16" "86601141" "86601142" "dup" "0" "00125" "FOXC2_000019" "g.86601141_86601142dup" "" "{PMID:Bell 2001:11499682}, {OMIM602402:0006}" "" "201_202insCT" "" "Unknown" "yes" "" "0" "" "" "g.86567535_86567536dup" "" "pathogenic" "" "0000085218" "1" "90" "16" "86601315" "86601315" "subst" "0" "00125" "FOXC2_000020" "g.86601315C>T" "" "{PMID:Bell 2001:11499682}, {OMIM602402:0012}" "" "C374T" "not in 100 control chromosomes" "Germline" "yes" "" "0" "" "" "g.86567709C>T" "" "pathogenic" "" "0000085219" "1" "90" "16" "86602243" "86602249" "delins" "0" "00125" "FOXC2_000021" "g.86602243_86602249delinsGGA" "" "{PMID:Bell 2001:11499682}" "" "" "" "Unknown" "?" "" "0" "" "" "g.86568637_86568643delinsGGA" "" "pathogenic" "" "0000085220" "1" "90" "16" "86601353" "86601354" "ins" "0" "00125" "FOXC2_000022" "g.86601353_86601354insT" "" "{PMID:Bell 2001:11499682}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86567747_86567748insT" "" "pathogenic" "" "0000085221" "1" "90" "16" "86601579" "86601580" "ins" "0" "00125" "FOXC2_000023" "g.86601579_86601580insGT" "" "{PMID:Bell 2001:11499682}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86567973_86567974insGT" "" "pathogenic" "" "0000085222" "1" "90" "16" "86601759" "86601759" "dup" "0" "00125" "FOXC2_000024" "g.86601759dup" "" "{PMID:Bell 2001:11499682}" "" "818_819insA" "" "Unknown" "?" "" "0" "" "" "g.86568153dup" "" "pathogenic" "" "0000085223" "1" "90" "16" "86601807" "86601807" "del" "0" "00125" "FOXC2_000025" "g.86601807del" "" "{PMID:Bell 2001:11499682}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86568201del" "" "pathogenic" "" "0000085224" "1" "90" "16" "86601807" "86601807" "dup" "0" "00125" "FOXC2_000026" "g.86601807dup" "" "{PMID:Bell 2001:11499682}" "" "866–867insC" "" "Germline" "yes" "" "0" "" "" "g.86568201dup" "" "pathogenic" "" "0000085225" "1" "90" "16" "86601855" "86601862" "del" "0" "00125" "FOXC2_000027" "g.86601855_86601862del" "" "{PMID:Bell 2001:11499682}" "" "c.914_921delACGCCGCC" "" "Unknown" "?" "" "0" "" "" "g.86568249_86568256del" "" "pathogenic" "" "0000085226" "1" "90" "16" "86601863" "86601869" "dup" "0" "00125" "FOXC2_000028" "g.86601863_86601869dup" "" "{PMID:Bell 2001:11499682}" "" "928_929insGCGCCGC" "" "Unknown" "?" "" "0" "" "" "g.86568257_86568263dup" "" "pathogenic" "" "0000085229" "1" "90" "16" "86601239" "86601239" "subst" "0" "00125" "FOXC2_000029" "g.86601239C>T" "" "{PMID:Erickson 2001:11694548}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86567633C>T" "" "pathogenic" "" "0000085230" "1" "90" "16" "86601626" "86601626" "dup" "0" "00125" "FOXC2_000030" "g.86601626dup" "" "{PMID:Erickson 2001:11694548}" "" "683-684insG" "" "Germline" "yes" "" "0" "" "" "g.86568020dup" "" "pathogenic" "" "0000085231" "1" "90" "16" "86601735" "86601735" "dup" "0" "00125" "FOXC2_000031" "g.86601735dup" "" "{PMID:Erickson 2001:11694548}" "" "792-793insA" "" "Germline" "yes" "" "0" "" "" "g.86568129dup" "" "pathogenic" "" "0000085232" "1" "90" "16" "86601760" "86601760" "dup" "0" "00125" "FOXC2_000032" "g.86601760dup" "" "{PMID:Erickson 2001:11694548}" "" "818-819insG" "" "Germline" "yes" "" "0" "" "" "g.86568154dup" "" "pathogenic" "" "0000085233" "1" "90" "16" "86601855" "86601862" "del" "0" "00125" "FOXC2_000027" "g.86601855_86601862del" "" "{PMID:Erickson 2001:11694548}" "" "914-921delACGCCGCC" "" "Unknown" "yes" "" "0" "" "" "g.86568249_86568256del" "" "pathogenic" "" "0000085234" "1" "90" "16" "86601892" "86601892" "subst" "0" "00125" "FOXC2_000033" "g.86601892C>A" "" "{PMID:Erickson 2001:11694548}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86568286C>A" "" "pathogenic" "" "0000085235" "1" "90" "16" "86601543" "86601622" "delins" "0" "00125" "FOXC2_000034" "g.86601543_86601622delinsACAAA" "" "{PMID:Erickson 2001:11694548}, {OMIM602402:0011}" "" "602-681insACAAAdel79" "" "Germline" "yes" "" "0" "" "" "g.86567937_86568016delinsACAAA" "" "pathogenic" "" "0000085236" "1" "90" "16" "86601989" "86601992" "dup" "0" "00125" "FOXC2_000035" "g.86601989_86601992dup" "" "{PMID:Brice 2002:12114478}" "" "1048-1051dup" "" "Unknown" "?" "" "0" "" "" "g.86568383_86568386dup" "" "pathogenic" "" "0000085237" "1" "90" "16" "86602083" "86602083" "dup" "0" "00125" "FOXC2_000036" "g.86602083dup" "" "{PMID:Brice 2002:12114478}" "" "1142-1143ins" "" "Unknown" "?" "" "0" "" "" "g.86568477dup" "" "pathogenic" "" "0000085238" "1" "90" "16" "86601264" "86601264" "del" "0" "00125" "FOXC2_000037" "g.86601264del" "" "{PMID:Brice 2002:12114478}" "" "323del" "" "Unknown" "?" "" "0" "" "" "g.86567658del" "" "pathogenic" "" "0000085239" "1" "90" "16" "86601288" "86601288" "subst" "0" "00125" "FOXC2_000038" "g.86601288G>A" "" "{PMID:Brice 2002:12114478}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86567682G>A" "" "pathogenic" "" "0000085240" "1" "90" "16" "86601376" "86601376" "subst" "0" "00125" "FOXC2_000039" "g.86601376C>A" "" "{PMID:Brice 2002:12114478}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86567770C>A" "" "pathogenic" "" "0000085241" "1" "90" "16" "86601812" "86601812" "dup" "0" "00125" "FOXC2_000040" "g.86601812dup" "" "{PMID:Brice 2002:12114478}" "" "871-872ins" "" "Unknown" "?" "" "0" "" "" "g.86568206dup" "" "pathogenic" "" "0000085242" "1" "90" "16" "86601863" "86601870" "del" "0" "00125" "FOXC2_000041" "g.86601863_86601870del" "" "{PMID:Brice 2002:12114478}" "" "922-929del" "" "Unknown" "?" "" "0" "" "" "g.86568257_86568264del" "" "pathogenic" "" "0000085243" "1" "90" "16" "86601303" "86601303" "subst" "0" "00125" "FOXC2_000042" "g.86601303G>A" "" "{PMID:Brice 2002:12114478}, {OMIM602402:0013}" "" "" "not in 100 control chromosomes" "Unknown" "yes" "" "0" "" "" "g.86567697G>A" "" "pathogenic" "" "0000085244" "1" "90" "16" "86601880" "86601880" "subst" "0" "00125" "FOXC2_000043" "g.86601880C>A" "" "{PMID:Traboulsi 2002:12383817}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86568274C>A" "" "pathogenic" "" "0000085245" "0" "10" "16" "86601049" "86601049" "subst" "0.00683864" "00006" "FOXC2_000003" "g.86601049C>T" "" "{PMID:Ridderstrale 2002:12453913}" "" "C107T (S36S)" "" "Unknown" "?" "" "0" "" "" "g.86567443C>T" "" "benign" "" "0000085246" "0" "10" "16" "86602423" "86602423" "subst" "4.56469E-5" "00006" "FOXC2_000044" "g.86602423C>T" "" "{PMID:Ridderstrale 2002:12453913}" "" "C1481T (T494T)" "" "Unknown" "?" "" "0" "" "" "g.86568817C>T" "" "benign" "" "0000085248" "1" "90" "16" "86601855" "86601862" "del" "0" "00125" "FOXC2_000027" "g.86601855_86601862del" "" "{PMID:Bahua 2002:12485195}" "" "914_921delACGCCGCC" "" "Germline" "yes" "" "0" "" "" "g.86568249_86568256del" "" "pathogenic" "" "0000085249" "1" "90" "16" "86601274" "86601274" "del" "0" "00125" "FOXC2_000046" "g.86601274del" "" "{PMID:Lehmann 2003:12766066}" "" "" "" "Unknown" "?" "" "0" "" "" "g.86567668del" "" "pathogenic" "" "0000085250" "1" "90" "16" "86602017" "86602017" "subst" "0" "00125" "FOXC2_000047" "g.86602017C>A" "" "{PMID:Brooks 2003:14566319}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86568411C>A" "" "pathogenic" "" "0000085251" "1" "90" "16" "86601947" "86601947" "dup" "0" "00125" "FOXC2_000048" "g.86601947dup" "" "{PMID:Yildirim-Toruner 2004:15523639}, {OMIM602402:0010}" "" "1006insA" "" "Germline" "yes" "" "0" "" "" "g.86568341dup" "" "pathogenic" "" "0000085252" "1" "90" "16" "86601965" "86601965" "del" "0" "00125" "FOXC2_000049" "g.86601965del" "" "{PMID:Sholto-Douglas-Vernon 2005:15906099}" "" "" "" "Unknown" "?" "" "0" "" "" "g.86568359del" "" "pathogenic" "" "0000085253" "1" "90" "16" "86602081" "86602081" "del" "0" "00125" "FOXC2_000050" "g.86602081del" "" "{PMID:Sholto-Douglas-Vernon 2005:15906099}" "" "" "" "Unknown" "?" "" "0" "" "" "g.86568475del" "" "pathogenic" "" "0000085254" "1" "90" "16" "86602239" "86602239" "del" "0" "00125" "FOXC2_000051" "g.86602239del" "" "{PMID:Sholto-Douglas-Vernon 2005:15906099}" "" "" "" "Unknown" "?" "" "0" "" "" "g.86568633del" "" "pathogenic" "" "0000085255" "1" "90" "16" "86602359" "86602359" "del" "0" "00125" "FOXC2_000052" "g.86602359del" "" "{PMID:Sholto-Douglas-Vernon 2005:15906099}" "" "" "" "Unknown" "?" "" "0" "" "" "g.86568753del" "" "pathogenic" "" "0000085256" "1" "90" "16" "86602361" "86602367" "del" "0" "00125" "FOXC2_000053" "g.86602361_86602367del" "" "{PMID:Sholto-Douglas-Vernon 2005:15906099}" "" "" "" "Unknown" "?" "" "0" "" "" "g.86568755_86568761del" "" "pathogenic" "" "0000085257" "1" "90" "16" "86601287" "86601287" "subst" "0" "00125" "FOXC2_000054" "g.86601287T>A" "" "{PMID:Sholto-Douglas-Vernon 2005:15906099}" "" "" "not in 200 control chromosomes" "Unknown" "?" "" "0" "" "" "g.86567681T>A" "" "pathogenic" "" "0000085258" "1" "90" "16" "86601379" "86601379" "subst" "0" "00125" "FOXC2_000055" "g.86601379G>A" "" "{PMID:Sholto-Douglas-Vernon 2005:15906099}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86567773G>A" "" "pathogenic" "" "0000085259" "1" "90" "16" "86601415" "86601415" "del" "0" "00125" "FOXC2_000056" "g.86601415del" "" "{PMID:Sholto-Douglas-Vernon 2005:15906099}" "" "" "" "Unknown" "?" "" "0" "" "" "g.86567809del" "" "pathogenic" "" "0000085260" "1" "55" "16" "86601645" "86601645" "subst" "0" "00125" "FOXC2_000057" "g.86601645G>T" "" "{PMID:Sholto-Douglas-Vernon 2005:15906099}" "" "" "" "Unknown" "?" "" "0" "" "" "g.86568039G>T" "" "VUS" "" "0000085261" "1" "90" "16" "86601688" "86601688" "del" "0" "00125" "FOXC2_000058" "g.86601688del" "" "{PMID:Sholto-Douglas-Vernon 2005:15906099}" "" "" "" "Unknown" "?" "" "0" "" "" "g.86568082del" "" "pathogenic" "" "0000085262" "1" "90" "16" "86601795" "86601795" "del" "0" "00125" "FOXC2_000059" "g.86601795del" "" "{PMID:Sholto-Douglas-Vernon 2005:15906099}" "" "" "" "Unknown" "?" "" "0" "" "" "g.86568189del" "" "pathogenic" "" "0000085263" "1" "90" "16" "86601843" "86601861" "dup" "0" "00125" "FOXC2_000060" "g.86601843_86601861dup" "" "{PMID:Sholto-Douglas-Vernon 2005:15906099}" "" "902_920dupTGGCGCTGCCCTACGCCGC" "" "Unknown" "?" "" "0" "" "" "g.86568237_86568255dup" "" "pathogenic" "" "0000085265" "0" "90" "16" "86601884" "86601884" "subst" "0" "00125" "FOXC2_000001" "g.86601884C>T" "" "{PMID:Ghalamkarpour 2009:19394045}" "" "" "" "De novo" "" "" "0" "" "" "g.86568278C>T" "" "pathogenic" "" "0000085266" "1" "90" "16" "86602146" "86602146" "subst" "0" "00125" "FOXC2_000063" "g.86602146C>T" "" "{PMID:van Steensel 2009:19760751}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86568540C>T" "" "pathogenic" "" "0000085267" "1" "90" "16" "86602162" "86602162" "subst" "0" "00125" "FOXC2_000064" "g.86602162G>C" "" "{PMID:van Steensel 2009:19760751}" "" "" "" "Unknown" "?" "" "0" "" "" "g.86568556G>C" "" "pathogenic" "" "0000085268" "1" "90" "16" "86601063" "86601063" "subst" "0" "00125" "FOXC2_000065" "g.86601063A>T" "" "{PMID:van Steensel 2009:19760751}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86567457A>T" "" "pathogenic" "" "0000085269" "1" "90" "16" "86602272" "86602272" "subst" "0.0011533" "00125" "FOXC2_000066" "g.86602272A>G" "" "{PMID:van Steensel 2009:19760751}" "" "" "" "Unknown" "?" "" "0" "" "" "g.86568666A>G" "" "pathogenic" "" "0000085270" "1" "90" "16" "86601302" "86601302" "subst" "0" "00125" "FOXC2_000067" "g.86601302C>T" "" "{PMID:van Steensel 2009:19760751}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86567696C>T" "" "pathogenic" "" "0000085271" "1" "90" "16" "86601504" "86601504" "del" "0" "00125" "FOXC2_000068" "g.86601504del" "" "{PMID:van Steensel 2009:19760751}" "" "c.559delC" "" "Unknown" "?" "" "0" "" "" "g.86567898del" "" "pathogenic" "" "0000085272" "1" "90" "16" "86601822" "86601823" "del" "0" "00125" "FOXC2_000069" "g.86601822_86601823del" "" "{PMID:van Steensel 2009:19760751}" "" "c.876-877delCG" "" "Unknown" "?" "" "0" "" "" "g.86568216_86568217del" "" "pathogenic" "" "0000085273" "1" "90" "16" "86601034" "86601034" "subst" "0" "00125" "FOXC2_000070" "g.86601034C>A" "" "{PMID:van Steensel 2009:19760751}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86567428C>A" "" "pathogenic" "" "0000085274" "1" "90" "16" "86601366" "86601366" "dup" "0" "00125" "FOXC2_000071" "g.86601366dup" "" "{PMID:Fabretto 2010:20450314}" "" "" "" "De novo" "" "" "0" "" "" "g.86567760dup" "" "pathogenic" "" "0000085275" "1" "90" "16" "86601335" "86601335" "subst" "0" "00125" "FOXC2_000072" "g.86601335A>G" "" "{PMID:Fauret 2010:20552815}" "" "" "" "Unknown" "?" "" "0" "" "" "g.86567729A>G" "" "pathogenic" "" "0000085576" "0" "90" "16" "86601536" "86601536" "dup" "0" "00006" "FOXC2_000073" "g.86601536dup" "" "{PMID:Bell 2001:11499682}" "" "595_596insC" "" "Germline" "yes" "" "0" "" "" "g.86567930dup" "" "pathogenic" "" "0000085577" "0" "90" "16" "86601536" "86601536" "dup" "0" "00006" "FOXC2_000073" "g.86601536dup" "" "{PMID:Brice 2002:12114478}" "" "595-596insC" "" "Unknown" "?" "" "0" "" "" "g.86567930dup" "" "pathogenic" "" "0000085578" "1" "90" "16" "86601315" "86601315" "subst" "0" "00006" "FOXC2_000020" "g.86601315C>T" "" "{PMID:van Steensel 2009:19760751}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86567709C>T" "" "pathogenic" "" "0000085579" "1" "55" "16" "86601735" "86601735" "dup" "0" "00006" "FOXC2_000031" "g.86601735dup" "" "{PMID:van Steensel 2009:19760751}" "" "c.794insA" "" "Unknown" "?" "" "0" "" "" "g.86568129dup" "" "VUS" "" "0000085580" "1" "90" "16" "86601843" "86601861" "dup" "0" "00006" "FOXC2_000060" "g.86601843_86601861dup" "" "{PMID:van Steensel 2009:19760751}" "" "c.902-920dup19" "" "Germline" "yes" "" "0" "" "" "g.86568237_86568255dup" "" "pathogenic" "" "0000085581" "1" "90" "16" "86601239" "86601239" "subst" "0" "00006" "FOXC2_000029" "g.86601239C>T" "" "{PMID:Sanchez-Carpintero 2010:20535019}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86567633C>T" "" "pathogenic" "" "0000085793" "1" "70" "16" "86600942" "86602448" "del" "0" "00006" "FOXC2_000000" "g.0" "" "{PMID:Stankiewicz 2009:19500772}" "" "" "deletion 1.5 Mb KIAA5013_FOXL1; de novo in patient\r\nVariant Error [ESYNTAX]: This genomic variant has an error (char 16: end of input). Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000085794" "1" "70" "16" "86600942" "86602448" "del" "0" "00006" "FOXC2_000000" "g.0" "" "{PMID:Stankiewicz 2009:19500772}" "" "" "deletion 2.0 Mb GINS2_JPH3\r\nVariant Error [ESYNTAX]: This genomic variant has an error (char 16: end of input). Please fix this entry and then remove this message." "Unknown" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000085795" "1" "70" "16" "86600942" "86602448" "del" "0" "00006" "FOXC2_000000" "g.0" "" "{PMID:Stankiewicz 2009:19500772}" "" "" "deletion 0.9 Mb C16orf74_FOXL1; de novo in patient\r\nVariant Error [ESYNTAX]: This genomic variant has an error (char 16: end of input). Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000085796" "1" "70" "16" "86600942" "86602448" "del" "0" "00006" "FOXC2_000000" "g.0" "" "{PMID:Stankiewicz 2009:19500772}" "" "" "deletion 1.0 Mb COX411_FOXL1; de novo in patient\r\nVariant Error [ESYNTAX]: This genomic variant has an error (char 16: end of input). Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000085797" "1" "70" "16" "86600942" "86602448" "del" "0" "00006" "FOXC2_000000" "g.0" "" "{PMID:Stankiewicz 2009:19500772}" "" "" "deletion 3.5 Mb ATP2C2_JPH3; de novo in patient\r\nVariant Error [ESYNTAX]: This genomic variant has an error (char 16: end of input). Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000085798" "20" "70" "16" "86600942" "86602448" "del" "0" "00006" "FOXC2_000000" "g.0" "" "{PMID:Stankiewicz 2009:19500772}" "" "" "deletion 1.8 Mb LOC732275_JPH3; de novo, maternal allele\r\nVariant Error [ESYNTAX]: This genomic variant has an error (char 16: end of input). Please fix this entry and then remove this message." "Unknown" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000085799" "21" "70" "16" "86600942" "86602448" "del" "0" "00006" "FOXC2_000000" "g.0" "" "{PMID:Stankiewicz 2009:19500772}" "" "" "deletion 131 Kb FOXC2 and FOXL1\r\nVariant Error [ESYNTAX]: This genomic variant has an error (char 16: end of input). Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000085902" "11" "70" "16" "86601916" "86601925" "del" "0" "00567" "FOXC2_000074" "g.86601916_86601925del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.86568310_86568319del" "" "likely pathogenic" "" "0000085903" "1" "70" "16" "86601880" "86601880" "subst" "0" "00006" "FOXC2_000043" "g.86601880C>A" "" "{PMID:de Bruyn 2012:21918810}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86568274C>A" "" "likely pathogenic" "" "0000085904" "1" "70" "16" "86601528" "86601529" "del" "0" "00006" "FOXC2_000075" "g.86601528_86601529del" "" "{PMID:Sutkowska 2012:22349027}" "" "c.586_587delCC" "" "Germline" "yes" "" "0" "" "" "g.86567922_86567923del" "" "likely pathogenic" "" "0000085905" "1" "70" "16" "86601674" "86601674" "del" "0" "00006" "FOXC2_000076" "g.86601674del" "" "{PMID:Ogura 2013:24278289}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86568068del" "" "likely pathogenic" "" "0000085906" "1" "70" "16" "86601295" "86601295" "subst" "0" "00006" "FOXC2_000077" "g.86601295C>G" "" "{PMID:Ogura 2013:24278289}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86567689C>G" "" "likely pathogenic" "" "0000085907" "21" "70" "16" "86601536" "86601536" "dup" "0" "00006" "FOXC2_000073" "g.86601536dup" "" "{PMID: Mendola 2013:24167460}" "" "" "homozygous mutation" "Germline" "yes" "" "0" "" "" "g.86567930dup" "" "likely pathogenic" "" "0000085908" "1" "70" "16" "86601843" "86601864" "dup" "0" "00006" "FOXC2_000078" "g.86601843_86601864dup" "" "{PMID: Mendola 2013:24167460}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86568237_86568258dup" "" "likely pathogenic" "" "0000085909" "11" "70" "16" "86601923" "86601924" "del" "0" "00006" "FOXC2_000079" "g.86601923_86601924del" "" "{PMID: Mendola 2013:24167460}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86568317_86568318del" "" "likely pathogenic" "" "0000085910" "21" "70" "16" "86601924" "86601924" "dup" "0" "00006" "FOXC2_000080" "g.86601924dup" "" "{PMID: Mendola 2013:24167460}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86568318dup" "" "likely pathogenic" "" "0000085911" "1" "70" "16" "86602256" "86602257" "dup" "0" "00006" "FOXC2_000081" "g.86602256_86602257dup" "" "{PMID:Mendola 2013:24167460}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86568650_86568651dup" "" "likely pathogenic" "" "0000085912" "1" "70" "16" "86601434" "86601442" "del" "0" "00006" "FOXC2_000082" "g.86601434_86601442del" "" "{PMID:Mendola 2013:24167460}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86567828_86567836del" "" "likely pathogenic" "" "0000085913" "0" "70" "16" "86601855" "86601862" "del" "0" "00006" "FOXC2_000027" "g.86601855_86601862del" "" "{PMID:Mendola 2013:24167460}" "" "" "" "Unknown" "?" "" "0" "" "" "g.86568249_86568256del" "" "likely pathogenic" "" "0000085914" "0" "70" "16" "86601871" "86601877" "dup" "0" "00006" "FOXC2_000011" "g.86601871_86601877dup" "" "{PMID:Mendola 2013:24167460}" "" "" "" "De novo" "" "" "0" "" "" "g.86568265_86568271dup" "" "likely pathogenic" "" "0000276873" "0" "10" "16" "86601049" "86601049" "subst" "0.00683864" "02330" "FOXC2_000003" "g.86601049C>T" "" "" "" "FOXC2(NM_005251.3):c.108C>T (p.S36=, p.(Ser36=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86567443C>T" "" "benign" "" "0000276874" "0" "50" "16" "86601132" "86601132" "subst" "2.03087E-5" "02330" "FOXC2_000083" "g.86601132C>T" "" "" "" "FOXC2(NM_005251.3):c.191C>T (p.P64L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86567526C>T" "" "VUS" "" "0000276875" "0" "70" "16" "86601180" "86601180" "subst" "0" "02330" "FOXC2_000084" "g.86601180T>G" "" "" "" "FOXC2(NM_005251.3):c.239T>G (p.L80R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86567574T>G" "" "likely pathogenic" "" "0000276876" "0" "90" "16" "86601315" "86601315" "subst" "0" "02330" "FOXC2_000020" "g.86601315C>T" "" "" "" "FOXC2(NM_005251.3):c.374C>T (p.S125L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86567709C>T" "" "pathogenic" "" "0000276877" "0" "10" "16" "86601376" "86601376" "subst" "0.00196585" "02330" "FOXC2_000086" "g.86601376C>T" "" "" "" "FOXC2(NM_005251.3):c.435C>T (p.Y145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86567770C>T" "" "benign" "" "0000324956" "0" "50" "16" "86601345" "86601347" "dup" "0" "01804" "FOXC2_000085" "g.86601345_86601347dup" "" "" "" "FOXC2(NM_005251.2):c.403_404insGCG (p.(Arg135_Asp136insGly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86567739_86567741dup" "" "VUS" "" "0000324958" "0" "30" "16" "86601882" "86601882" "subst" "0" "01804" "FOXC2_000088" "g.86601882G>A" "" "" "" "FOXC2(NM_005251.2):c.941G>A (p.(Gly314Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86568276G>A" "" "likely benign" "" "0000324959" "0" "50" "16" "86601947" "86601947" "subst" "0.000184738" "01804" "FOXC2_000089" "g.86601947A>T" "" "" "" "FOXC2(NM_005251.2):c.1006A>T (p.(Met336Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86568341A>T" "" "VUS" "" "0000324960" "0" "50" "16" "86602050" "86602050" "subst" "4.28156E-5" "01804" "FOXC2_000090" "g.86602050G>C" "" "" "" "FOXC2(NM_005251.2):c.1109G>C (p.(Ser370Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86568444G>C" "" "VUS" "" "0000368277" "0" "99" "16" "86601884" "86601884" "subst" "0" "01764" "FOXC2_000001" "g.86601884C>T" "" "{PMID:Mendola 2013:24167460}" "" "" "" "De novo" "" "" "0" "" "" "g.86568278C>T" "" "pathogenic" "" "0000446866" "0" "50" "16" "86600973" "86600973" "subst" "1.6338E-5" "00006" "FOXC2_000091" "g.86600973A>G" "" "{PMID:Reynhout 2019:30595372}" "" "" "" "De novo" "" "" "0" "" "" "g.86567367A>G" "" "VUS" "" "0000559418" "0" "50" "16" "86601119" "86601119" "subst" "0" "01804" "FOXC2_000092" "g.86601119C>T" "" "" "" "FOXC2(NM_005251.2):c.178C>T (p.(His60Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86567513C>T" "" "VUS" "" "0000559420" "0" "50" "16" "86601435" "86601435" "subst" "0" "02327" "FOXC2_000094" "g.86601435G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86567829G>C" "" "VUS" "" "0000559421" "0" "50" "16" "86601437" "86601437" "subst" "0" "01943" "FOXC2_000095" "g.86601437C>T" "" "" "" "FOXC2(NM_005251.3):c.496C>T (p.R166W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86567831C>T" "" "VUS" "" "0000559423" "0" "30" "16" "86601524" "86601524" "subst" "0.000207075" "01804" "FOXC2_000097" "g.86601524C>G" "" "" "" "FOXC2(NM_005251.2):c.583C>G (p.(Pro195Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86567918C>G" "" "likely benign" "" "0000559424" "0" "50" "16" "86602216" "86602216" "subst" "0" "02327" "FOXC2_000098" "g.86602216T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86568610T>G" "" "VUS" "" "0000559425" "0" "30" "16" "86602272" "86602272" "subst" "0.0011533" "01804" "FOXC2_000066" "g.86602272A>G" "" "" "" "FOXC2(NM_005251.2):c.1331A>G (p.(Gln444Arg)), FOXC2(NM_005251.3):c.1331A>G (p.Q444R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86568666A>G" "" "likely benign" "" "0000559426" "0" "50" "16" "86602343" "86602343" "dup" "0" "02325" "FOXC2_000099" "g.86602343dup" "" "" "" "FOXC2(NM_005251.3):c.1402dupG (p.E468Gfs*122)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86568737dup" "" "VUS" "" "0000623552" "0" "70" "16" "86601297" "86601301" "del" "0" "01943" "FOXC2_000100" "g.86601297_86601301del" "" "" "" "FOXC2(NM_005251.3):c.356_360delGCATC (p.S119Tfs*342)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86567691_86567695del" "" "likely pathogenic" "" "0000657954" "0" "90" "16" "86601735" "86601735" "dup" "0" "02330" "FOXC2_000031" "g.86601735dup" "" "" "" "FOXC2(NM_005251.3):c.794dupA (p.N265Kfs*198)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86568129dup" "" "pathogenic" "" "0000657955" "0" "30" "16" "86602272" "86602272" "subst" "0.0011533" "02330" "FOXC2_000066" "g.86602272A>G" "" "" "" "FOXC2(NM_005251.2):c.1331A>G (p.(Gln444Arg)), FOXC2(NM_005251.3):c.1331A>G (p.Q444R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86568666A>G" "" "likely benign" "" "0000699913" "0" "50" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000726008" "0" "90" "16" "86601843" "86601864" "del" "0" "02327" "FOXC2_000101" "g.86601843_86601864del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726009" "0" "90" "16" "86602183" "86602183" "del" "0" "02330" "FOXC2_000102" "g.86602183del" "" "" "" "FOXC2(NM_005251.3):c.1242delC (p.A416Pfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726010" "0" "30" "16" "86602433" "86602433" "subst" "0.00113773" "02325" "FOXC2_000103" "g.86602433T>C" "" "" "" "FOXC2(NM_005251.2):c.1492T>C (p.(Cys498Arg)), FOXC2(NM_005251.3):c.1492T>C (p.C498R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807634" "0" "30" "16" "86601124" "86601124" "subst" "0.000247788" "02326" "FOXC2_000104" "g.86601124C>T" "" "" "" "FOXC2(NM_005251.3):c.183C>T (p.H61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807635" "0" "30" "16" "86601568" "86601568" "subst" "0.00177199" "02326" "FOXC2_000105" "g.86601568G>A" "" "" "" "FOXC2(NM_005251.3):c.627G>A (p.K209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000815873" "20" "90" "16" "86601872" "86601879" "dup" "0" "04190" "FOXC2_000106" "g.86601872_86601879dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86568266_86568273dup" "" "pathogenic" "ACMG" "0000854668" "0" "10" "16" "86601589" "86601589" "subst" "0.00239874" "02326" "FOXC2_000107" "g.86601589G>A" "" "" "" "FOXC2(NM_005251.3):c.648G>A (p.E216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854669" "0" "10" "16" "86602036" "86602036" "subst" "0.000602207" "02326" "FOXC2_000108" "g.86602036C>G" "" "" "" "FOXC2(NM_005251.3):c.1095C>G (p.P365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893212" "0" "30" "16" "86601376" "86601376" "subst" "0.00196585" "02326" "FOXC2_000086" "g.86601376C>T" "" "" "" "FOXC2(NM_005251.3):c.435C>T (p.Y145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893213" "0" "30" "16" "86601773" "86601773" "subst" "0" "02326" "FOXC2_000109" "g.86601773C>T" "" "" "" "FOXC2(NM_005251.3):c.832C>T (p.L278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893214" "0" "90" "16" "86601838" "86601838" "dup" "0" "02330" "FOXC2_000110" "g.86601838dup" "" "" "" "FOXC2(NM_005251.3):c.897dupG (p.P300Afs*163)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000893215" "0" "30" "16" "86602433" "86602433" "subst" "0.00113773" "02326" "FOXC2_000103" "g.86602433T>C" "" "" "" "FOXC2(NM_005251.2):c.1492T>C (p.(Cys498Arg)), FOXC2(NM_005251.3):c.1492T>C (p.C498R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914700" "0" "50" "16" "86601353" "86601353" "subst" "0" "02326" "FOXC2_000111" "g.86601353A>G" "" "" "" "FOXC2(NM_005251.3):c.412A>G (p.K138E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914701" "0" "30" "16" "86601565" "86601565" "subst" "0.00143055" "02326" "FOXC2_000112" "g.86601565G>A" "" "" "" "FOXC2(NM_005251.3):c.624G>A (p.E208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914702" "0" "30" "16" "86602272" "86602272" "subst" "0.0011533" "02325" "FOXC2_000066" "g.86602272A>G" "" "" "" "FOXC2(NM_005251.2):c.1331A>G (p.(Gln444Arg)), FOXC2(NM_005251.3):c.1331A>G (p.Q444R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930663" "0" "90" "16" "86601965" "86601965" "del" "0" "02330" "FOXC2_000049" "g.86601965del" "" "" "" "FOXC2(NM_005251.3):c.1024delG (p.A342Pfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950747" "0" "50" "16" "86601360" "86601360" "subst" "1.21831E-5" "02325" "FOXC2_000113" "g.86601360C>A" "" "" "" "FOXC2(NM_005251.3):c.419C>A (p.P140H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968549" "0" "30" "16" "86601295" "86601295" "subst" "0.000958492" "02326" "FOXC2_000114" "g.86601295C>T" "" "" "" "FOXC2(NM_005251.3):c.354C>T (p.N118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968550" "0" "10" "16" "86601367" "86601367" "subst" "0.00415455" "02326" "FOXC2_000115" "g.86601367G>A" "" "" "" "FOXC2(NM_005251.3):c.426G>A (p.K142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000968551" "0" "90" "16" "86601376" "86601376" "subst" "0" "02330" "FOXC2_000116" "g.86601376C>G" "" "" "" "FOXC2(NM_005251.3):c.435C>G (p.Y145*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000968552" "0" "30" "16" "86602272" "86602272" "subst" "0.0011533" "02326" "FOXC2_000066" "g.86602272A>G" "" "" "" "FOXC2(NM_005251.2):c.1331A>G (p.(Gln444Arg)), FOXC2(NM_005251.3):c.1331A>G (p.Q444R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982131" "0" "50" "16" "86600969" "86600969" "subst" "4.08537E-6" "01804" "FOXC2_000117" "g.86600969C>A" "" "" "" "FOXC2(NM_005251.3):c.28C>A (p.(Pro10Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982132" "0" "30" "16" "86601074" "86601074" "subst" "4.07349E-6" "01804" "FOXC2_000118" "g.86601074C>T" "" "" "" "FOXC2(NM_005251.3):c.133C>T (p.(Pro45Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982133" "0" "50" "16" "86601216" "86601218" "del" "0" "01804" "FOXC2_000119" "g.86601216_86601218del" "" "" "" "FOXC2(NM_005251.3):c.275_277del (p.(Lys92del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982134" "0" "90" "16" "86601383" "86601383" "dup" "0" "02327" "FOXC2_000120" "g.86601383dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000982135" "0" "50" "16" "86601719" "86601719" "subst" "0" "01804" "FOXC2_000121" "g.86601719C>G" "" "" "" "FOXC2(NM_005251.3):c.778C>G (p.(His260Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002638" "0" "50" "16" "86601299" "86601299" "subst" "0" "01804" "FOXC2_000122" "g.86601299A>G" "" "" "" "FOXC2(NM_005251.2):c.358A>G (p.(Ile120Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002639" "0" "30" "16" "86601470" "86601470" "subst" "4.14597E-6" "01804" "FOXC2_000123" "g.86601470A>G" "" "" "" "FOXC2(NM_005251.2):c.529A>G (p.(Lys177Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002640" "0" "30" "16" "86601686" "86601686" "subst" "0" "01804" "FOXC2_000124" "g.86601686G>A" "" "" "" "FOXC2(NM_005251.2):c.745G>A (p.(Ala249Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002641" "0" "50" "16" "86602001" "86602001" "subst" "1.29279E-5" "01804" "FOXC2_000125" "g.86602001C>G" "" "" "" "FOXC2(NM_005251.2):c.1060C>G (p.(Leu354Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002642" "0" "30" "16" "86602206" "86602206" "subst" "2.6079E-5" "01804" "FOXC2_000126" "g.86602206C>T" "" "" "" "FOXC2(NM_005251.2):c.1265C>T (p.(Ala422Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002643" "0" "50" "16" "86602407" "86602407" "subst" "0" "01804" "FOXC2_000127" "g.86602407G>C" "" "" "" "FOXC2(NM_005251.2):c.1466G>C (p.(Arg489Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002644" "0" "10" "16" "86602433" "86602433" "subst" "0.00113773" "01804" "FOXC2_000103" "g.86602433T>C" "" "" "" "FOXC2(NM_005251.2):c.1492T>C (p.(Cys498Arg)), FOXC2(NM_005251.3):c.1492T>C (p.C498R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001007562" "0" "70" "16" "86601360" "86601360" "subst" "5.68546E-5" "00006" "FOXC2_000128" "g.86601360C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs201833900" "0" "" "" "g.86567754C>T" "" "VUS" "" "0001007563" "0" "70" "16" "86601381" "86601381" "subst" "5.68643E-5" "00006" "FOXC2_000129" "g.86601381C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs201189554" "0" "" "" "g.86567775C>T" "" "VUS" "" "0001015433" "0" "30" "16" "86601629" "86601629" "subst" "7.31814E-5" "02326" "FOXC2_000087" "g.86601629A>G" "" "" "" "FOXC2(NM_005251.3):c.688A>G (p.T230A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015434" "0" "50" "16" "86602162" "86602162" "subst" "0" "02327" "FOXC2_000064" "g.86602162G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026770" "0" "90" "16" "86601238" "86601238" "subst" "0" "02329" "FOXC2_000062" "g.86601238C>G" "" "" "" "FOXC2(NM_005251.3):c.297C>G (p.Y99*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046581" "0" "50" "16" "86602401" "86602401" "subst" "1.65756E-5" "02327" "FOXC2_000130" "g.86602401T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055699" "0" "10" "16" "86601049" "86601049" "subst" "0.00683864" "01804" "FOXC2_000003" "g.86601049C>T" "" "" "" "FOXC2(NM_005251.3):c.108C>T (p.S36=, p.(Ser36=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FOXC2 ## Count = 162 "{{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}}" "0000085198" "00008070" "90" "297" "0" "297" "0" "c.297C>G" "r.(?)" "p.(Tyr99*)" "1" "0000085199" "00008070" "90" "1090" "0" "1093" "0" "c.1090_1093dup" "r.(?)" "p.(Pro365Argfs*99)" "1" "0000085200" "00008070" "10" "108" "0" "108" "0" "c.108C>T" "r.(?)" "p.(=)" "1" "0000085201" "00008070" "90" "1238" "0" "1253" "0" "c.1238_1253del" "r.(?)" "p.(Gln413Argfs*15)" "1" "0000085202" "00008070" "10" "1396" "0" "1396" "0" "c.1396C>T" "r.(?)" "p.(=)" "1" "0000085203" "00008070" "90" "232" "0" "245" "0" "c.232_245dup" "r.(?)" "p.(Met83Serfs*18)" "1" "0000085204" "00008070" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Gln86*)" "1" "0000085205" "00008070" "90" "612" "0" "612" "0" "c.612dup" "r.(?)" "p.(Lys205Glnfs*258)" "1" "0000085206" "00008070" "90" "902" "0" "920" "0" "c.902_920del" "r.(?)" "p.(Leu301Profs*30)" "1" "0000085207" "00008070" "90" "902" "0" "902" "0" "c.902del" "r.(?)" "p.(Leu301Argfs*36)" "1" "0000085208" "00008070" "90" "930" "0" "936" "0" "c.930_936dup" "r.(?)" "p.(Tyr313Argfs*152)" "1" "0000085209" "00008070" "10" "-966" "0" "-966" "0" "c.-966C>A" "r.(=)" "p.(=)" "1" "0000085210" "00008070" "90" "982" "0" "983" "0" "c.982_983insT" "r.(?)" "p.(Gly328Valfs*135)" "1" "0000085211" "00008070" "90" "588" "0" "588" "0" "c.588dup" "r.(?)" "p.(Thr197Hisfs*266)" "1" "0000085212" "00008070" "90" "588" "0" "588" "0" "c.588dup" "r.(?)" "p.(Thr197Hisfs*266)" "1" "0000085213" "00008070" "90" "509" "0" "509" "0" "c.509del" "r.(?)" "p.(Lys170Argfs*31)" "1" "0000085214" "00008070" "90" "290" "0" "300" "0" "c.290_300del" "r.(?)" "p.(Gly97Valfs*362)" "1" "0000085215" "00008070" "90" "1331" "0" "1331" "0" "c.1331del" "r.(?)" "p.(Gln444Argfs*28)" "1" "0000085216" "00008070" "90" "209" "0" "209" "0" "c.209dup" "r.(?)" "p.(Val71Glyfs*392)" "1" "0000085217" "00008070" "90" "200" "0" "201" "0" "c.200_201dup" "r.(?)" "p.(Lys68Leufs*5)" "1" "0000085218" "00008070" "90" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Ser125Leu)" "1" "0000085219" "00008070" "90" "1302" "0" "1308" "0" "c.1302_1308delinsGGA" "r.(?)" "p.(His434Glnfs*37)" "1" "0000085220" "00008070" "90" "412" "0" "413" "0" "c.412_413insT" "r.(?)" "p.(Lys138Ilefs*325)" "1" "0000085221" "00008070" "90" "638" "0" "639" "0" "c.638_639insGT" "r.(?)" "p.(Ile213Metfs*20)" "1" "0000085222" "00008070" "90" "818" "0" "818" "0" "c.818dup" "r.(?)" "p.(Asn274Glufs*189)" "1" "0000085223" "00008070" "90" "866" "0" "866" "0" "c.866del" "r.(?)" "p.(Pro289Argfs*48)" "1" "0000085224" "00008070" "90" "866" "0" "866" "0" "c.866dup" "r.(?)" "p.(Ala291Glyfs*172)" "1" "0000085225" "00008070" "90" "914" "0" "921" "0" "c.914_921del" "r.(?)" "p.(Tyr305Cysfs*155)" "1" "0000085226" "00008070" "90" "922" "0" "928" "0" "c.922_928dup" "r.(?)" "p.(Pro310Argfs*155)" "1" "0000085229" "00008070" "90" "298" "0" "298" "0" "c.298C>T" "r.(?)" "p.(Gln100*)" "1" "0000085230" "00008070" "90" "685" "0" "685" "0" "c.685dup" "r.(?)" "p.(Glu229Glyfs*234)" "1" "0000085231" "00008070" "90" "794" "0" "794" "0" "c.794dup" "r.(?)" "p.(Asn265Lysfs*198)" "1" "0000085232" "00008070" "90" "819" "0" "819" "0" "c.819dup" "r.(?)" "p.(Asn274Glufs*189)" "1" "0000085233" "00008070" "90" "914" "0" "921" "0" "c.914_921del" "r.(?)" "p.(Tyr305Cysfs*155)" "1" "0000085234" "00008070" "90" "951" "0" "951" "0" "c.951C>A" "r.(?)" "p.(Cys317*)" "1" "0000085235" "00008070" "90" "602" "0" "681" "0" "c.602_681delinsACAAA" "r.(?)" "p.(Ala201_Thr226delinsAsp)" "1" "0000085236" "00008070" "90" "1048" "0" "1051" "0" "c.1048_1051dup" "r.(?)" "p.(Pro351Argfs*113)" "1" "0000085237" "00008070" "90" "1142" "0" "1142" "0" "c.1142dup" "r.(?)" "p.(Leu382Alafs*81)" "1" "0000085238" "00008070" "90" "323" "0" "323" "0" "c.323del" "r.(?)" "p.(Phe108Serfs*93)" "1" "0000085239" "00008070" "90" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Trp116*)" "1" "0000085240" "00008070" "90" "435" "0" "435" "0" "c.435C>A" "r.(?)" "p.(Tyr145*)" "1" "0000085241" "00008070" "90" "871" "0" "871" "0" "c.871dup" "r.(?)" "p.(Ala291Glyfs*172)" "1" "0000085242" "00008070" "90" "922" "0" "929" "0" "c.922_929del" "r.(?)" "p.(Ala308Argfs*152)" "1" "0000085243" "00008070" "90" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121His)" "1" "0000085244" "00008070" "90" "939" "0" "939" "0" "c.939C>A" "r.(?)" "p.(Tyr313*)" "1" "0000085245" "00008070" "10" "108" "0" "108" "0" "c.108C>T" "r.(?)" "p.(=)" "1" "0000085246" "00008070" "10" "1482" "0" "1482" "0" "c.1482C>T" "r.(?)" "p.(=)" "1" "0000085248" "00008070" "90" "914" "0" "921" "0" "c.914_921del" "r.(?)" "p.(Tyr305Cysfs*155)" "1" "0000085249" "00008070" "90" "333" "0" "333" "0" "c.333del" "r.(?)" "p.(Asn112Thrfs*89)" "1" "0000085250" "00008070" "90" "1076" "0" "1076" "0" "c.1076C>A" "r.(?)" "p.(Ser359*)" "1" "0000085251" "00008070" "90" "1006" "0" "1006" "0" "c.1006dup" "r.(?)" "p.(Met336Asnfs*127)" "1" "0000085252" "00008070" "90" "1024" "0" "1024" "0" "c.1024del" "r.(?)" "p.(Ala342Profs*28)" "1" "0000085253" "00008070" "90" "1140" "0" "1140" "0" "c.1140del" "r.(?)" "p.(Ala381Argfs*52)" "1" "0000085254" "00008070" "90" "1298" "0" "1298" "0" "c.1298del" "r.(?)" "p.(Asn433Thrfs*39)" "1" "0000085255" "00008070" "90" "1418" "0" "1418" "0" "c.1418del" "r.(?)" "p.(Gly473AlafsTer?)" "1" "0000085256" "00008070" "90" "1420" "0" "1426" "0" "c.1420_1426del" "r.(?)" "p.(Asn474AlafsTer?)" "1" "0000085257" "00008070" "90" "346" "0" "346" "0" "c.346T>A" "r.(?)" "p.(Trp116Arg)" "1" "0000085258" "00008070" "90" "438" "0" "438" "0" "c.438G>A" "r.(?)" "p.(Trp146*)" "1" "0000085259" "00008070" "90" "474" "0" "474" "0" "c.474del" "r.(?)" "p.(Asn158Lysfs*43)" "1" "0000085260" "00008070" "55" "704" "0" "704" "0" "c.704G>T" "r.(?)" "p.(Ser235Ile)" "1" "0000085261" "00008070" "90" "747" "0" "747" "0" "c.747del" "r.(?)" "p.(Gly250Alafs*27)" "1" "0000085262" "00008070" "90" "854" "0" "854" "0" "c.854del" "r.(?)" "p.(Gly285Glufs*3)" "1" "0000085263" "00008070" "90" "902" "0" "920" "0" "c.902_920dup" "r.(?)" "p.(Ala308Glyfs*161)" "1" "0000085265" "00008070" "90" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Gln315*)" "1" "0000085266" "00008070" "90" "1205" "0" "1205" "0" "c.1205C>T" "r.(?)" "p.(Pro402Leu)" "1" "0000085267" "00008070" "90" "1221" "0" "1221" "0" "c.1221G>C" "r.(?)" "p.(Gln407His)" "1" "0000085268" "00008070" "90" "122" "0" "122" "0" "c.122A>T" "r.(?)" "p.(Tyr41Phe)" "1" "0000085269" "00008070" "90" "1331" "0" "1331" "0" "c.1331A>G" "r.(?)" "p.(Gln444Arg)" "1" "0000085270" "00008070" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Cys)" "1" "0000085271" "00008070" "90" "563" "0" "563" "0" "c.563del" "r.(?)" "p.(Pro188Argfs*13)" "1" "0000085272" "00008070" "90" "881" "0" "882" "0" "c.881_882del" "r.(?)" "p.(Ala294Glyfs*168)" "1" "0000085273" "00008070" "90" "93" "0" "93" "0" "c.93C>A" "r.(?)" "p.(Tyr31*)" "1" "0000085274" "00008070" "90" "425" "0" "425" "0" "c.425dup" "r.(?)" "p.(Ser144Glnfs*319)" "1" "0000085275" "00008070" "90" "394" "0" "394" "0" "c.394A>G" "r.(?)" "p.(Lys132Glu)" "1" "0000085576" "00008070" "90" "595" "0" "595" "0" "c.595dup" "r.(?)" "p.(His199Profs*264)" "1" "0000085577" "00008070" "90" "595" "0" "595" "0" "c.595dup" "r.(?)" "p.(His199Profs*264)" "1" "0000085578" "00008070" "90" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Ser125Leu)" "1" "0000085579" "00008070" "55" "794" "0" "794" "0" "c.794dup" "r.(?)" "p.(Asn265Lysfs*198)" "1" "0000085580" "00008070" "90" "902" "0" "920" "0" "c.902_920dup" "r.(?)" "p.(Ala308Glyfs*161)" "1" "0000085581" "00008070" "90" "298" "0" "298" "0" "c.298C>T" "r.(?)" "p.(Gln100*)" "1" "0000085793" "00008070" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_" "0000085794" "00008070" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_" "0000085795" "00008070" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_" "0000085796" "00008070" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_" "0000085797" "00008070" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_" "0000085798" "00008070" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_" "0000085799" "00008070" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_" "0000085902" "00008070" "70" "975" "0" "984" "0" "c.975_984del" "r.(?)" "p.(Ala326Thrfs*8)" "1" "0000085903" "00008070" "70" "939" "0" "939" "0" "c.939C>A" "r.(?)" "p.(Tyr313*)" "1" "0000085904" "00008070" "70" "587" "0" "588" "0" "c.587_588del" "r.(?)" "p.(Ala196Aspfs*266)" "1" "0000085905" "00008070" "70" "733" "0" "733" "0" "c.733del" "r.(?)" "p.(Ala245Profs*32)" "1" "0000085906" "00008070" "70" "354" "0" "354" "0" "c.354C>G" "r.(?)" "p.(Asn118Lys)" "1" "0000085907" "00008070" "70" "595" "0" "595" "0" "c.595dup" "r.(?)" "p.(His199Profs*264)" "1" "0000085908" "00008070" "70" "902" "0" "923" "0" "c.902_923dup" "r.(?)" "p.(Pro309Glyfs*161)" "1" "0000085909" "00008070" "70" "982" "0" "983" "0" "c.982_983del" "r.(?)" "p.(Gly328Leufs*134)" "1" "0000085910" "00008070" "70" "983" "0" "983" "0" "c.983dup" "r.(?)" "p.(Tyr329Leufs*134)" "1" "0000085911" "00008070" "70" "1315" "0" "1316" "0" "c.1315_1316dup" "r.(?)" "p.(Phe440Argfs*33)" "1" "0000085912" "00008070" "70" "493" "0" "501" "0" "c.493_501del" "r.(?)" "p.(Arg165_Arg167del)" "1" "0000085913" "00008070" "70" "914" "0" "921" "0" "c.914_921del" "r.(?)" "p.(Tyr305Cysfs*155)" "1" "0000085914" "00008070" "70" "930" "0" "936" "0" "c.930_936dup" "r.(?)" "p.(Tyr313Argfs*152)" "1" "0000276873" "00008070" "10" "108" "0" "108" "0" "c.108C>T" "r.(?)" "p.(Ser36=)" "" "0000276874" "00008070" "50" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Pro64Leu)" "" "0000276875" "00008070" "70" "239" "0" "239" "0" "c.239T>G" "r.(?)" "p.(Leu80Arg)" "" "0000276876" "00008070" "90" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Ser125Leu)" "" "0000276877" "00008070" "10" "435" "0" "435" "0" "c.435C>T" "r.(?)" "p.(Tyr145=)" "" "0000324956" "00008070" "50" "404" "0" "406" "0" "c.404_406dup" "r.(?)" "p.(Arg135_Asp136insGly)" "" "0000324958" "00008070" "30" "941" "0" "941" "0" "c.941G>A" "r.(?)" "p.(Gly314Asp)" "" "0000324959" "00008070" "50" "1006" "0" "1006" "0" "c.1006A>T" "r.(?)" "p.(Met336Leu)" "" "0000324960" "00008070" "50" "1109" "0" "1109" "0" "c.1109G>C" "r.(?)" "p.(Ser370Thr)" "" "0000368277" "00008070" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Gln315*)" "1764" "0000446866" "00008070" "50" "32" "0" "32" "0" "c.32A>G" "r.(?)" "p.(Asn11Ser)" "" "0000559418" "00008070" "50" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(His60Tyr)" "" "0000559420" "00008070" "50" "494" "0" "494" "0" "c.494G>C" "r.(?)" "p.(Arg165Pro)" "" "0000559421" "00008070" "50" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Arg166Trp)" "" "0000559423" "00008070" "30" "583" "0" "583" "0" "c.583C>G" "r.(?)" "p.(Pro195Ala)" "" "0000559424" "00008070" "50" "1275" "0" "1275" "0" "c.1275T>G" "r.(?)" "p.(Tyr425Ter)" "" "0000559425" "00008070" "30" "1331" "0" "1331" "0" "c.1331A>G" "r.(?)" "p.(Gln444Arg)" "" "0000559426" "00008070" "50" "1402" "0" "1402" "0" "c.1402dup" "r.(?)" "p.(Glu468GlyfsTer?)" "" "0000623552" "00008070" "70" "356" "0" "360" "0" "c.356_360del" "r.(?)" "p.(Ser119ThrfsTer342)" "" "0000657954" "00008070" "90" "794" "0" "794" "0" "c.794dup" "r.(?)" "p.(Asn265LysfsTer198)" "" "0000657955" "00008070" "30" "1331" "0" "1331" "0" "c.1331A>G" "r.(?)" "p.(Gln444Arg)" "" "0000699913" "00008070" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Pro204Ser)" "" "0000726008" "00008070" "90" "902" "0" "923" "0" "c.902_923del" "r.(?)" "p.(Leu301Argfs*29)" "" "0000726009" "00008070" "90" "1242" "0" "1242" "0" "c.1242del" "r.(?)" "p.(Ala416Profs*17)" "" "0000726010" "00008070" "30" "1492" "0" "1492" "0" "c.1492T>C" "r.(?)" "p.(Cys498Arg)" "" "0000807634" "00008070" "30" "183" "0" "183" "0" "c.183C>T" "r.(?)" "p.(His61=)" "" "0000807635" "00008070" "30" "627" "0" "627" "0" "c.627G>A" "r.(?)" "p.(Lys209=)" "" "0000815873" "00008070" "90" "931" "0" "938" "0" "c.931_938dup" "r.(?)" "p.(Tyr313*)" "" "0000854668" "00008070" "10" "648" "0" "648" "0" "c.648G>A" "r.(?)" "p.(Glu216=)" "" "0000854669" "00008070" "10" "1095" "0" "1095" "0" "c.1095C>G" "r.(?)" "p.(Pro365=)" "" "0000893212" "00008070" "30" "435" "0" "435" "0" "c.435C>T" "r.(?)" "p.(Tyr145=)" "" "0000893213" "00008070" "30" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Leu278=)" "" "0000893214" "00008070" "90" "897" "0" "897" "0" "c.897dup" "r.(?)" "p.(Pro300Alafs*163)" "" "0000893215" "00008070" "30" "1492" "0" "1492" "0" "c.1492T>C" "r.(?)" "p.(Cys498Arg)" "" "0000914700" "00008070" "50" "412" "0" "412" "0" "c.412A>G" "r.(?)" "p.(Lys138Glu)" "" "0000914701" "00008070" "30" "624" "0" "624" "0" "c.624G>A" "r.(?)" "p.(Glu208=)" "" "0000914702" "00008070" "30" "1331" "0" "1331" "0" "c.1331A>G" "r.(?)" "p.(Gln444Arg)" "" "0000930663" "00008070" "90" "1024" "0" "1024" "0" "c.1024del" "r.(?)" "p.(Ala342Profs*28)" "" "0000950747" "00008070" "50" "419" "0" "419" "0" "c.419C>A" "r.(?)" "p.(Pro140His)" "" "0000968549" "00008070" "30" "354" "0" "354" "0" "c.354C>T" "r.(?)" "p.(=)" "" "0000968550" "00008070" "10" "426" "0" "426" "0" "c.426G>A" "r.(?)" "p.(=)" "" "0000968551" "00008070" "90" "435" "0" "435" "0" "c.435C>G" "r.(?)" "p.(Tyr145*)" "" "0000968552" "00008070" "30" "1331" "0" "1331" "0" "c.1331A>G" "r.(?)" "p.(Gln444Arg)" "" "0000982131" "00008070" "50" "28" "0" "28" "0" "c.28C>A" "r.(?)" "p.(Pro10Thr)" "" "0000982132" "00008070" "30" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Pro45Ser)" "" "0000982133" "00008070" "50" "275" "0" "277" "0" "c.275_277del" "r.(?)" "p.(Lys92del)" "" "0000982134" "00008070" "90" "442" "0" "442" "0" "c.442dup" "r.(?)" "p.(Leu148Profs*315)" "" "0000982135" "00008070" "50" "778" "0" "778" "0" "c.778C>G" "r.(?)" "p.(His260Asp)" "" "0001002638" "00008070" "50" "358" "0" "358" "0" "c.358A>G" "r.(?)" "p.(Ile120Val)" "" "0001002639" "00008070" "30" "529" "0" "529" "0" "c.529A>G" "r.(?)" "p.(Lys177Glu)" "" "0001002640" "00008070" "30" "745" "0" "745" "0" "c.745G>A" "r.(?)" "p.(Ala249Thr)" "" "0001002641" "00008070" "50" "1060" "0" "1060" "0" "c.1060C>G" "r.(?)" "p.(Leu354Val)" "" "0001002642" "00008070" "30" "1265" "0" "1265" "0" "c.1265C>T" "r.(?)" "p.(Ala422Val)" "" "0001002643" "00008070" "50" "1466" "0" "1466" "0" "c.1466G>C" "r.(?)" "p.(Arg489Pro)" "" "0001002644" "00008070" "10" "1492" "0" "1492" "0" "c.1492T>C" "r.(?)" "p.(Cys498Arg)" "" "0001007562" "00008070" "70" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Pro140Leu)" "" "0001007563" "00008070" "70" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Thr147Ile)" "" "0001015433" "00008070" "30" "688" "0" "688" "0" "c.688A>G" "r.(?)" "p.(Thr230Ala)" "" "0001015434" "00008070" "50" "1221" "0" "1221" "0" "c.1221G>C" "r.(?)" "p.(Gln407His)" "" "0001026770" "00008070" "90" "297" "0" "297" "0" "c.297C>G" "r.(?)" "p.(Tyr99*)" "" "0001046581" "00008070" "50" "1460" "0" "1460" "0" "c.1460T>C" "r.(?)" "p.(Leu487Pro)" "" "0001055699" "00008070" "10" "108" "0" "108" "0" "c.108C>T" "r.(?)" "p.(Ser36=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 106 "{{screeningid}}" "{{variantid}}" "0000055177" "0000085198" "0000055178" "0000085199" "0000055179" "0000085200" "0000055180" "0000085201" "0000055181" "0000085202" "0000055182" "0000085203" "0000055183" "0000085204" "0000055184" "0000085205" "0000055185" "0000085206" "0000055186" "0000085207" "0000055187" "0000085208" "0000055188" "0000085209" "0000055189" "0000085210" "0000055190" "0000085211" "0000055191" "0000085212" "0000055192" "0000085213" "0000055193" "0000085214" "0000055194" "0000085215" "0000055195" "0000085216" "0000055196" "0000085217" "0000055197" "0000085218" "0000055198" "0000085219" "0000055199" "0000085220" "0000055200" "0000085221" "0000055201" "0000085222" "0000055202" "0000085223" "0000055203" "0000085224" "0000055204" "0000085225" "0000055205" "0000085226" "0000055208" "0000085229" "0000055209" "0000085230" "0000055210" "0000085231" "0000055211" "0000085232" "0000055212" "0000085233" "0000055213" "0000085234" "0000055214" "0000085235" "0000055215" "0000085236" "0000055216" "0000085237" "0000055217" "0000085238" "0000055218" "0000085239" "0000055219" "0000085240" "0000055220" "0000085241" "0000055221" "0000085242" "0000055222" "0000085243" "0000055223" "0000085244" "0000055224" "0000085245" "0000055225" "0000085246" "0000055227" "0000085248" "0000055228" "0000085249" "0000055229" "0000085250" "0000055230" "0000085251" "0000055231" "0000085252" "0000055232" "0000085253" "0000055233" "0000085254" "0000055234" "0000085255" "0000055235" "0000085256" "0000055236" "0000085257" "0000055237" "0000085258" "0000055238" "0000085259" "0000055239" "0000085260" "0000055240" "0000085261" "0000055241" "0000085262" "0000055242" "0000085263" "0000055244" "0000085265" "0000055245" "0000085266" "0000055246" "0000085267" "0000055247" "0000085268" "0000055248" "0000085269" "0000055249" "0000085270" "0000055250" "0000085271" "0000055251" "0000085272" "0000055252" "0000085273" "0000055253" "0000085274" "0000055254" "0000085275" "0000055561" "0000085576" "0000055562" "0000085577" "0000055563" "0000085578" "0000055564" "0000085579" "0000055565" "0000085580" "0000055566" "0000085581" "0000055778" "0000085793" "0000055779" "0000085794" "0000055780" "0000085795" "0000055781" "0000085796" "0000055782" "0000085797" "0000055783" "0000085798" "0000055784" "0000085799" "0000055887" "0000085902" "0000055888" "0000085903" "0000055889" "0000085904" "0000055890" "0000085905" "0000055891" "0000085906" "0000055892" "0000085907" "0000055893" "0000085908" "0000055894" "0000085909" "0000055895" "0000085910" "0000055896" "0000085911" "0000055897" "0000085912" "0000055898" "0000085913" "0000055899" "0000085914" "0000164718" "0000368277" "0000214547" "0000446866" "0000317277" "0000699913" "0000387739" "0000815873" "0000455407" "0001007562" "0000455407" "0001007563"