### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FOXC1) # 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}}" "FOXC1" "forkhead box C1" "6" "p25" "unknown" "NG_009368.1" "UD_132118963216" "" "https://www.LOVD.nl/FOXC1" "" "1" "3800" "2296" "601090" "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/FOXC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2017-10-28 17:05:49" "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}}" "00008069" "FOXC1" "forkhead box C1" "001" "NM_001453.2" "" "NP_001444.2" "" "" "" "1" "3452" "1662" "1610681" "1614132" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "01178" "AN" "aniridia (AN)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-07-12 09:10:59" "02380" "ASGD3" "anterior segment dysgenesis 3, multiple subtypes" "AD" "601631" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02428" "RIEG3" "Axenfeld-Rieger syndrome, type 3 (RIEG-3)" "AD" "602482" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04206" "RIEG" "Axenfeld-Rieger syndrome (RIEG)" "" "" "" "" "" "00006" "2015-02-21 16:01:52" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04267" "-" "glaucoma" "" "" "" "" "" "00006" "2015-05-14 15:50:28" "" "" "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 = 2 "{{geneid}}" "{{diseaseid}}" "FOXC1" "02380" "FOXC1" "02428" ## Individuals ## Do not remove or alter this header ## ## Count = 57 "{{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}}" "00059222" "" "" "" "1" "" "01239" "" "" "M" "no" "" "" "0" "" "" "" "" "00103997" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-059B" "00103999" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-112A" "00104008" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-167A" "00104023" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-703A" "00104039" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-772A" "00132614" "" "" "" "4" "" "01155" "{PMID:Kelberman 2011:21837767}, {DOI:Kelberman 2011:10.1002/humu.21550}" "2-generation family, affected father, mother and 2 children" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "21837767-PatII1" "00132615" "" "" "00132614" "1" "" "00006" "{PMID:Kelberman 2011:21837767}, {DOI:Kelberman 2011:10.1002/humu.21550}" "affected father" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "21837767-PatI1" "00132617" "" "" "00132614" "1" "" "00006" "{PMID:Kelberman 2011:21837767}, {DOI:Kelberman 2011:10.1002/humu.21550}" "brother" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "21837767-PatII2" "00314017" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00316083" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "" "" "" "France" "" "0" "" "" "" "K106" "00320148" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00336004" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 181 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00336005" "" "" "" "2" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 181 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00336006" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 181 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00363783" "" "" "" "1" "" "00000" "{PMID:Huang 2015:26310487}" "family" "F" "" "China" "" "0" "" "" "" "G378" "00382094" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "10" "00382106" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "54" "00382107" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "67" "00382108" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "141" "00382109" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "148" "00382110" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "152" "00382111" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "153" "00382112" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "154" "00382113" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "162" "00382114" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "186" "00382115" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "264" "00382757" "" "" "" "1" "" "04164" "" "" "" "" "China" "" "" "" "" "Chinese" "" "00382758" "" "" "" "2" "" "04164" "" "" "F" "yes" "China" "" "" "" "" "Chinese" "" "00382905" "" "" "" "1" "" "04164" "" "" "M" "yes" "China" "" "" "" "" "Chinese" "" "00382906" "" "" "" "2" "" "04164" "" "" "F" "yes" "China" "" "" "" "" "Chinese" "" "00382907" "" "" "" "1" "" "04164" "" "" "M" "yes" "China" "" "" "" "" "Chinese" "" "00382908" "" "" "" "1" "" "04164" "" "" "M" "yes" "China" "" "" "" "" "" "" "00382909" "" "" "" "1" "" "04164" "" "" "M" "yes" "China" "" "" "" "" "Chinese" "" "00382910" "" "" "" "2" "" "04164" "" "" "M" "yes" "China" "" "" "" "" "Chinese" "" "00382911" "" "" "" "2" "" "04164" "" "" "M" "yes" "China" "" "" "" "" "Chinese" "" "00382912" "" "" "" "2" "" "04164" "" "" "F" "yes" "China" "" "" "" "" "Chinese" "" "00382913" "" "" "" "1" "" "04164" "" "" "M" "yes" "China" "" "" "" "" "Chinese" "" "00382914" "" "" "" "2" "" "04164" "" "" "M" "yes" "China" "" "" "" "" "Chinese" "" "00382915" "" "" "" "1" "" "04164" "" "" "F" "" "China" "" "" "" "" "Chinese" "" "00382916" "" "" "" "2" "" "04164" "" "" "F" "yes" "China" "" "" "" "" "" "" "00382917" "" "" "" "2" "" "04164" "" "" "M" "yes" "China" "" "" "" "" "Chinese" "" "00382918" "" "" "" "1" "" "04164" "" "" "F" "yes" "China" "" "" "" "" "Chinese" "" "00382919" "" "" "" "2" "" "04164" "" "" "M" "yes" "China" "" "" "" "" "Chinese" "" "00382920" "" "" "" "3" "" "04164" "" "" "F" "yes" "China" "" "" "" "" "" "" "00382921" "" "" "" "2" "" "04164" "" "" "F" "yes" "China" "" "" "" "" "Chinese" "" "00382936" "" "" "" "1" "" "04164" "" "" "F" "" "China" "" "" "" "" "" "" "00382937" "" "" "" "1" "" "04164" "" "" "M" "yes" "China" "" "" "" "" "Chinese" "" "00385482" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "15022193" "00385518" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "17009449" "00408697" "" "" "" "4" "" "00006" "{PMID:Thomas 2022:34085946}" "patient, affected father, sister and son" "" "no" "France" "" "0" "" "" "" "Pat46" "00434244" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam25760" "00450429" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID1142" "00450430" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID1451" "00450431" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID1732" "00450456" "" "" "00450455" "1" "" "00006" "{PMID:Deng 2023:37119330}" "sister" "F" "yes" "Egypt" "" "0" "" "" "" "Fam8Pat20" "00466173" "" "" "" "1" "" "03820" "" "" "F" "" "Brazil" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 57 "{{individualid}}" "{{diseaseid}}" "00059222" "04267" "00103997" "03381" "00103999" "03381" "00104008" "03381" "00104023" "03381" "00104039" "03381" "00132614" "00198" "00132615" "00198" "00132617" "00198" "00314017" "00198" "00316083" "05342" "00320148" "00198" "00336004" "00296" "00336005" "00296" "00336006" "00296" "00363783" "04267" "00382094" "02428" "00382106" "02380" "00382107" "02380" "00382108" "02380" "00382109" "02380" "00382110" "02380" "00382111" "02380" "00382112" "02380" "00382113" "02380" "00382114" "02380" "00382115" "02380" "00382757" "04206" "00382758" "04206" "00382905" "04206" "00382906" "04206" "00382907" "04206" "00382908" "04206" "00382909" "04206" "00382910" "04206" "00382911" "04206" "00382912" "04206" "00382913" "04206" "00382914" "04206" "00382915" "04206" "00382916" "04206" "00382917" "04206" "00382918" "04206" "00382919" "04206" "00382920" "04206" "00382921" "04206" "00382936" "04206" "00382937" "04206" "00385482" "04214" "00385518" "04214" "00408697" "00198" "00434244" "00198" "00450429" "01178" "00450430" "01178" "00450431" "01178" "00450456" "00325" "00466173" "02428" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 00325, 01178, 02380, 02428, 03381, 04206, 04214, 04267, 05342 ## Count = 57 "{{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}}" "0000045729" "04267" "00059222" "01239" "Complex" "" "Congenital glaucoma, microphthalmia, iris anomalies, bilateral club foot, cognitive impairment" "" "" "" "" "" "" "" "" "" "" "" "0000081931" "03381" "00103997" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000081933" "03381" "00103999" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000081942" "03381" "00104008" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000081957" "03381" "00104023" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000081973" "03381" "00104039" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000105381" "00198" "00132614" "00006" "Unknown" "" "see paper; ..., complex bilateral anterior segment developmental anomalies, corneal cyst" "00y00m10d" "" "bilateral anterior segment developmental anomalies" "" "" "" "" "" "" "" "" "0000105382" "00198" "00132615" "00006" "Unknown" "" "see paper; ..., typical Axenfeld-Rieger syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000105384" "00198" "00132617" "00006" "Unknown" "" "see paper; ..., typical Axenfeld-Rieger syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000238314" "00198" "00314017" "01164" "Unknown" "" "Axenfeld anomaly (HP:0001492); Glaucoma (HP:0000501)" "" "" "" "" "" "" "" "" "" "" "" "0000239830" "05342" "00316083" "00006" "Unknown" "" "renal hypoplasia; renal dysplasia; cysts" "" "" "" "" "" "" "" "" "" "renal hypoplasia" "" "0000242194" "00198" "00320148" "01807" "Unknown" "" "Glaucoma (HP:0000501); Joint hypermobility (HP:0001382); Subvalvular aortic stenosis (HP:0001682); Supravalvular aortic stenosis (HP:0004381)" "" "" "" "" "" "" "" "" "" "" "" "0000253919" "00296" "00336004" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "childhood cataract" "" "0000253920" "00296" "00336005" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "childhood cataract" "" "0000253921" "00296" "00336006" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "childhood cataract" "" "0000259130" "04267" "00363783" "00000" "Unknown" "68y" "see paper; ..." "" "" "" "" "" "" "" "" "" "primary open‐angle glaucoma" "" "0000275936" "02428" "00382094" "00000" "Familial, autosomal dominant" "" "microphthalmia, anophthalmia, and coloboma; MIM, 602482" "" "" "" "" "" "" "" "" "" "MIM, 602482" "" "0000275948" "02380" "00382106" "00000" "Familial, autosomal dominant" "" "anterior segment developmental anomalies including glaucoma; MIM, 601631 or 602482" "" "" "" "" "" "" "" "" "" "MIM, 601631 or 602482" "" "0000275949" "02380" "00382107" "00000" "Familial, autosomal dominant" "" "anterior segment developmental anomalies including glaucoma; MIM, 601631 or 602482" "" "" "" "" "" "" "" "" "" "MIM, 601631 or 602482" "" "0000275950" "02380" "00382108" "00000" "Familial, autosomal dominant" "" "anterior segment developmental anomalies including glaucoma; MIM, 601631 or 602482" "" "" "" "" "" "" "" "" "" "MIM, 601631 or 602482" "" "0000275951" "02380" "00382109" "00000" "Familial, autosomal dominant" "" "anterior segment developmental anomalies including glaucoma; MIM, 601631 or 602482" "" "" "" "" "" "" "" "" "" "MIM, 601631 or 602482" "" "0000275952" "02380" "00382110" "00000" "Familial, autosomal dominant" "" "anterior segment developmental anomalies including glaucoma; MIM, 601631 or 602482" "" "" "" "" "" "" "" "" "" "MIM, 601631 or 602482" "" "0000275953" "02380" "00382111" "00000" "Familial, autosomal dominant" "" "anterior segment developmental anomalies including glaucoma; MIM, 601631 or 602482" "" "" "" "" "" "" "" "" "" "MIM, 601631 or 602482" "" "0000275954" "02380" "00382112" "00000" "Familial, autosomal dominant" "" "anterior segment developmental anomalies including glaucoma; MIM, 601631 or 602482" "" "" "" "" "" "" "" "" "" "MIM, 601631 or 602482" "" "0000275955" "02380" "00382113" "00000" "Familial, autosomal dominant" "" "anterior segment developmental anomalies including glaucoma; MIM, 601631 or 602482" "" "" "" "" "" "" "" "" "" "MIM, 601631 or 602482" "" "0000275956" "02380" "00382114" "00000" "Familial, autosomal dominant" "" "anterior segment developmental anomalies including glaucoma; MIM, 601631 or 602482" "" "" "" "" "" "" "" "" "" "MIM, 601631 or 602482" "" "0000275957" "02380" "00382115" "00000" "Familial, autosomal dominant" "" "anterior segment developmental anomalies including glaucoma; MIM, 601631 or 602482" "" "" "" "" "" "" "" "" "" "MIM, 601631 or 602482" "" "0000276613" "04206" "00382757" "04164" "Familial, autosomal dominant" "" "PE, iridocorneal adhesions, IH, corectopia, Glaucoma; no dental anomailty; ocular abnormality; normal umbilicus" "" "15y" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276614" "04206" "00382758" "04164" "Isolated (sporadic)" "" "PE, iridocorneal adhesions, GL, high myopia,CHD; no dental anomailty; ocular abnormality; normal umbilicus" "" "22y" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276761" "04206" "00382758" "04164" "Isolated (sporadic)" "" "PE, iridocorneal adhesions, GL, high myopia, CHD; no dental anomailty; ocular abnormality; normal umbilicus" "" "22y" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276762" "04206" "00382905" "04164" "Isolated (sporadic)" "" "PE, iridocorneal adhesions, IH, GL (OD), corneal; no dental anomailty; ocular abnormality; normal umbilicus" "" "00y04m" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276763" "04206" "00382906" "04164" "Familial, autosomal dominant" "" "PE, iridocorneal adhesions, IH, corectopia, GL; no dental anomailty; ocular abnormality; normal umbilicus" "" "14y" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276764" "04206" "00382907" "04164" "Isolated (sporadic)" "" "PE, IH, corectopia, polycoria, GL, nystagmus, amblyopia; no dental anomailty; ocular abnormality; normal umbilicus" "" "05y" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276765" "04206" "00382908" "04164" "Isolated (sporadic)" "" "PE, iridocorneal adhesions, corectopia, GL, CLDO; no dental anomailty; ocular abnormality; normal umbilicus" "" "00y07m" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276766" "04206" "00382909" "04164" "Isolated (sporadic)" "" "PE, iridocorneal adhesions, IH, GL, keratoconus, corneal decompensation, cataract; no dental anomailty; ocular abnormality; normal umbilicus" "" "12y" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276767" "04206" "00382910" "04164" "Familial, autosomal dominant" "" "PE, iridocorneal adhesions, IH, GL, corneal decompensation,CHD; no dental anomailty; ocular abnormality; normal umbilicus" "" "00y07m" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276768" "04206" "00382911" "04164" "Familial, autosomal dominant" "" "PE, iridocorneal adhesions, IH, ectropion uvea, GL; no dental anomailty; ocular abnormality; normal umbilicus" "" "00y01m" "" "" "" "" "" "" "" "" "" "0000276769" "04206" "00382912" "04164" "Familial, autosomal dominant" "" "PE, iridocorneal adhesions, GL, corneal decompensation; no dental anomailty; ocular abnormality; normal umbilicus" "" "00y03m" "" "" "" "" "" "" "" "" "" "0000276770" "04206" "00382913" "04164" "Isolated (sporadic)" "" "PE, iridocorneal adhesions, GL, corneal opacification; no dental anomailty; ocular abnormality; normal umbilicus" "" "00y01m" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276771" "04206" "00382914" "04164" "Familial, autosomal dominant" "" "Iridocorneal adhesions, ectropion uvea, GL, corneal opacification,CHD; no dental anomailty; ocular abnormality; normal umbilicus" "" "00y01m" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276772" "04206" "00382915" "04164" "Familial, autosomal dominant" "" "PE, iridocorneal adhesions, GL; no dental anomailty; ocular abnormality; normal umbilicus" "" "15y" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276773" "04206" "00382916" "04164" "Familial, autosomal dominant" "" "PE, iridocorneal adhesions, IH, GL, corneal opacification; no dental anomailty; ocular abnormality; normal umbilicus" "" "09y" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276774" "04206" "00382917" "04164" "Familial, autosomal dominant" "" "PE, iridocorneal adhesions, IH, corectopia, polycoria, ectropion uvea, GL; no dental anomailty; ocular abnormality; normal umbilicus" "" "15y" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276775" "04206" "00382918" "04164" "Isolated (sporadic)" "" "PE, iridocorneal adhesions, GL, corneal opacification; no dental anomailty; ocular abnormality; normal umbilicus" "00y08m" "" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276776" "04206" "00382920" "04164" "Familial, autosomal dominant" "" "PE, iridocorneal adhesions, GL; no dental anomailty; ocular abnormality; normal umbilicus" "" "18y" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276777" "04206" "00382921" "04164" "Isolated (sporadic)" "" "PE, iridocorneal adhesions, GL, ectropion uvea,Hearing loss; no dental anomailty; ocular abnormality; normal umbilicus" "" "40y" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276792" "04206" "00382936" "04164" "Isolated (sporadic)" "" "PE, iridocorneal adhesions, GL, corneal opacification;Craniofacial abnormalities; no dental anomailty; ocular abnormality; normal umbilicus" "" "00y02m" "" "" "" "" "" "" "" "" "" "0000276793" "04206" "00382937" "04164" "Familial, autosomal dominant" "" "PE, iridocorneal adhesions, GL; CHD; Growth disorder; hydrocephalus; ; ocular abnormality; normal umbilicus" "" "00y05m" "" "" "" "" "" "" "" "" "" "0000279277" "04214" "00385482" "00000" "Familial, autosomal dominant" "" "" "<1y" "" "" "" "" "" "" "" "bilateral anterior segment dysgenesis (ASD) including congenital glaucoma" "congenital glaucoma" "" "0000279313" "04214" "00385518" "00000" "Familial, autosomal dominant" "" "" "<1y" "" "" "" "" "" "" "" "bilateral anterior segment dysgenesis (ASD) including congenital glaucoma" "anterior segment dysgnenesis" "" "0000300815" "00198" "00408697" "00006" "Familial, autosomal dominant" "" "" "18y" "" "" "" "" "" "" "" "RIEG3" "" "" "0000324602" "00198" "00434244" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ASGD3" "glaucoma" "" "0000339490" "01178" "00450429" "00006" "Unknown" "" "sporadic aniridia" "" "" "" "" "" "" "" "" "" "aniridia" "" "0000339491" "01178" "00450430" "00006" "Unknown" "" "aniridia presenting as congenital glaucoma, biscuspid aortic valve, mild aortic stenosis" "" "" "" "" "" "" "" "" "" "aniridia" "" "0000339492" "01178" "00450431" "00006" "Unknown" "" "bilateral aniridia, glaucoma, opaque right cornea, aortic stenosis requiring neonatal surgery (not dysmorphic)" "" "" "" "" "" "" "" "" "" "aniridia" "" "0000339516" "00325" "00450456" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., non complicated hereditary spastic paraplegia, additionaly silver hair due to concomitant Griscelli syndrome" "" "" "" "" "" "" "" "" "SPG89" "spastic paraplegia" "" "0000351560" "02428" "00466173" "03820" "Unknown" "" "Congenital heart defect, Patent foramen ovale, Atrial septal defect, congenital glaucoma" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 57 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059208" "00059222" "1" "01239" "01239" "2016-03-03 21:42:48" "" "" "SEQ" "DNA" "" "" "0000104468" "00103997" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000104470" "00103999" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000104479" "00104008" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000104494" "00104023" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000104510" "00104039" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000133447" "00132614" "1" "01155" "01155" "2011-06-01 11:15:32" "00006" "2017-10-28 17:14:15" "SEQ" "DNA" "" "" "0000133448" "00132615" "1" "00006" "00006" "2017-10-28 17:19:21" "" "" "SEQ" "DNA" "" "" "0000133450" "00132617" "1" "00006" "00006" "2017-10-28 17:25:52" "" "" "SEQ" "DNA" "" "" "0000315190" "00314017" "1" "01164" "01164" "2020-10-12 12:14:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000317265" "00316083" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000321333" "00320148" "1" "01807" "01807" "2020-11-23 17:38:05" "" "" "SEQ" "DNA" "" "" "0000337234" "00336004" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000337235" "00336005" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000337236" "00336006" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000365011" "00363783" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000383310" "00382094" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000383322" "00382106" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000383323" "00382107" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000383324" "00382108" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000383325" "00382109" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000383326" "00382110" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000383327" "00382111" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000383328" "00382112" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000383329" "00382113" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000383330" "00382114" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000383331" "00382115" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000383972" "00382757" "1" "04164" "04164" "2021-09-12 07:07:27" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000384122" "00382758" "1" "04164" "04164" "2021-09-13 13:22:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000384123" "00382905" "1" "04164" "04164" "2021-09-13 13:54:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000384124" "00382906" "1" "04164" "04164" "2021-09-13 14:07:47" "" "" "SEQ-NG-I" "DNA" "" "" "0000384125" "00382907" "1" "04164" "04164" "2021-09-13 14:25:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000384126" "00382908" "1" "04164" "04164" "2021-09-13 15:44:26" "" "" "SEQ-NG-I" "DNA" "" "" "0000384127" "00382909" "1" "04164" "04164" "2021-09-13 15:50:35" "" "" "SEQ-NG-I" "DNA" "" "" "0000384129" "00382910" "1" "04164" "04164" "2021-09-13 16:03:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000384130" "00382911" "1" "04164" "04164" "2021-09-13 16:08:35" "" "" "SEQ-NG-I" "DNA" "" "" "0000384131" "00382912" "1" "04164" "04164" "2021-09-13 16:11:56" "" "" "SEQ-NG-I" "DNA" "" "" "0000384132" "00382913" "1" "04164" "04164" "2021-09-13 16:18:00" "" "" "SEQ-NG-I" "DNA" "" "" "0000384133" "00382914" "1" "04164" "04164" "2021-09-13 16:35:23" "" "" "SEQ-NG-I" "DNA" "" "" "0000384134" "00382915" "1" "04164" "04164" "2021-09-13 16:42:56" "" "" "SEQ-NG-I" "DNA" "" "" "0000384135" "00382916" "1" "04164" "04164" "2021-09-13 16:51:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000384136" "00382917" "1" "04164" "04164" "2021-09-13 16:59:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000384137" "00382918" "1" "04164" "04164" "2021-09-13 17:14:39" "" "" "SEQ-NG-I" "DNA" "" "" "0000384138" "00382919" "1" "04164" "04164" "2021-09-13 17:20:00" "" "" "SEQ-NG-I" "DNA" "" "" "0000384139" "00382920" "1" "04164" "04164" "2021-09-13 17:24:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000384140" "00382921" "1" "04164" "04164" "2021-09-13 17:30:10" "" "" "SEQ-NG-I" "DNA" "" "" "0000384156" "00382936" "1" "04164" "04164" "2021-09-13 19:09:05" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000384157" "00382937" "1" "04164" "04164" "2021-09-13 19:12:54" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000386711" "00385482" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "45 genes panel tested" "0000386747" "00385518" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "45 genes panel tested" "0000409959" "00408697" "1" "00006" "00006" "2022-04-25 19:53:26" "" "" "SEQ" "DNA" "" "" "0000435712" "00434244" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS" "0000452026" "00450429" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452027" "00450430" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452028" "00450431" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452052" "00450456" "1" "00006" "00006" "2024-05-27 09:25:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467831" "00466173" "1" "03820" "03820" "2025-08-06 14:33:19" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 45 "{{screeningid}}" "{{geneid}}" "0000059208" "FOXC1" "0000133447" "FOXC1" "0000133447" "PITX2" "0000133448" "FOXC1" "0000133448" "PITX2" "0000133450" "FOXC1" "0000133450" "PITX2" "0000317265" "FAT4" "0000317265" "FOXC1" "0000337234" "FOXC1" "0000337235" "FOXC1" "0000337236" "FOXC1" "0000365011" "FOXC1" "0000383310" "FOXC1" "0000383322" "FOXC1" "0000383323" "FOXC1" "0000383324" "FOXC1" "0000383325" "FOXC1" "0000383326" "FOXC1" "0000383327" "FOXC1" "0000383328" "FOXC1" "0000383329" "FOXC1" "0000383330" "FOXC1" "0000383331" "FOXC1" "0000383972" "FOXC1" "0000384122" "FOXC1" "0000384123" "FOXC1" "0000384124" "FOXC1" "0000384125" "FOXC1" "0000384126" "FOXC1" "0000384127" "FOXC1" "0000384129" "FOXC1" "0000384130" "FOXC1" "0000384131" "FOXC1" "0000384132" "FOXC1" "0000384133" "FOXC1" "0000384134" "FOXC1" "0000384135" "FOXC1" "0000384136" "FOXC1" "0000384137" "FOXC1" "0000384138" "FOXC1" "0000384139" "FOXC1" "0000384140" "FOXC1" "0000386711" "FOXC1" "0000386747" "FOXC1" ## 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 = 117 "{{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}}" "0000090044" "11" "70" "6" "1611873" "1611876" "dup" "0" "01239" "FOXC1_000002" "g.1611873_1611876dup" "" "" "" "1191_1196dup" "" "Germline" "yes" "" "0" "" "" "g.1611638_1611641dup" "" "likely pathogenic" "" "0000169271" "0" "70" "6" "1611819" "1611821" "dup" "0" "00587" "FOXC1_000003" "g.1611819_1611821dup" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001453.2(FOXC1):c.1139_1141dup p.(Gly380dup)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.1611584_1611586dup" "" "likely pathogenic" "" "0000169282" "0" "70" "6" "1611819" "1611821" "dup" "0" "00587" "FOXC1_000003" "g.1611819_1611821dup" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001453.2(FOXC1):c.1139_1141dup p.(Gly380dup)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.1611584_1611586dup" "" "likely pathogenic" "" "0000169324" "0" "70" "6" "1611819" "1611821" "dup" "0" "00587" "FOXC1_000003" "g.1611819_1611821dup" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001453.2(FOXC1):c.1139_1141dup p.(Gly380dup)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.1611584_1611586dup" "" "likely pathogenic" "" "0000169373" "0" "70" "6" "1611819" "1611821" "dup" "0" "00587" "FOXC1_000003" "g.1611819_1611821dup" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001453.2(FOXC1):c.1139_1141dup p.(Gly380dup)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.1611584_1611586dup" "" "likely pathogenic" "" "0000169439" "0" "70" "6" "1611819" "1611821" "dup" "0" "00587" "FOXC1_000003" "g.1611819_1611821dup" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001453.2(FOXC1):c.1139_1141dup p.(Gly380dup)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.1611584_1611586dup" "" "likely pathogenic" "" "0000222660" "11" "90" "6" "1611289" "1611289" "del" "0" "01155" "FOXC1_000001" "g.1611289del" "" "{PMID:Kelberman 2011:21837767}, {DOI:Kelberman 2011:10.1002/humu.21550}" "" "609delC" "" "Germline" "" "" "0" "" "" "g.1611054del" "" "pathogenic" "" "0000222662" "0" "90" "6" "1611289" "1611289" "del" "0" "00006" "FOXC1_000001" "g.1611289del" "" "{PMID:Kelberman 2011:21837767}, {DOI:Kelberman 2011:10.1002/humu.21550}" "" "609delC" "" "Germline" "" "" "0" "" "" "g.1611054del" "" "pathogenic" "" "0000222664" "11" "90" "6" "1611289" "1611289" "del" "0" "00006" "FOXC1_000001" "g.1611289del" "" "{PMID:Kelberman 2011:21837767}, {DOI:Kelberman 2011:10.1002/humu.21550}" "" "609delC" "" "Germline" "yes" "" "0" "" "" "g.1611054del" "" "pathogenic" "" "0000330796" "0" "50" "6" "1611368" "1611368" "subst" "0" "01804" "FOXC1_000006" "g.1611368A>G" "" "" "" "FOXC1(NM_001453.2):c.688A>G (p.(Asn230Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1611133A>G" "" "VUS" "" "0000330798" "0" "50" "6" "1612039" "1612041" "dup" "0" "01804" "FOXC1_000008" "g.1612039_1612041dup" "" "" "" "FOXC1(NM_001453.2):c.1337_1338insCGG (p.(Gly456dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1611804_1611806dup" "" "VUS" "" "0000330799" "0" "30" "6" "1612265" "1612265" "subst" "0" "01804" "FOXC1_000009" "g.1612265T>C" "" "" "" "FOXC1(NM_001453.2):c.1585T>C (p.(Cys529Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1612030T>C" "" "likely benign" "" "0000339005" "0" "90" "6" "1611060" "1611060" "subst" "0" "02327" "FOXC1_000011" "g.1611060G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1610825G>T" "" "pathogenic" "" "0000348699" "0" "90" "6" "1611072" "1611072" "subst" "0" "02327" "FOXC1_000012" "g.1611072C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1610837C>A" "" "pathogenic" "" "0000348700" "0" "70" "6" "1611072" "1611072" "subst" "0" "02327" "FOXC1_000013" "g.1611072C>G" "" "" "" "FOXC1(NM_001453.3):c.392C>G (p.S131W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1610837C>G" "" "likely pathogenic" "" "0000349186" "0" "70" "6" "1610926" "1610926" "subst" "0" "02327" "FOXC1_000010" "g.1610926C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1610691C>G" "" "likely pathogenic" "" "0000527821" "0" "30" "6" "1610772" "1610780" "del" "0" "01804" "FOXC1_000016" "g.1610772_1610780del" "" "" "" "FOXC1(NM_001453.2):c.81_89del (p.(Ala31_Ala33del)), FOXC1(NM_001453.3):c.92_100delCGGCGGCCG (p.A31_A33del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1610537_1610545del" "" "likely benign" "" "0000527822" "0" "30" "6" "1610839" "1610839" "subst" "9.26971E-5" "01943" "FOXC1_000017" "g.1610839C>T" "" "" "" "FOXC1(NM_001453.3):c.159C>T (p.A53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1610604C>T" "" "likely benign" "" "0000527823" "0" "50" "6" "1610971" "1610971" "subst" "0" "02327" "FOXC1_000018" "g.1610971G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1610736G>C" "" "VUS" "" "0000527824" "0" "70" "6" "1611072" "1611072" "subst" "0" "02325" "FOXC1_000013" "g.1611072C>G" "" "" "" "FOXC1(NM_001453.3):c.392C>G (p.S131W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1610837C>G" "" "likely pathogenic" "" "0000527826" "0" "50" "6" "1611236" "1611236" "subst" "1.26063E-5" "02327" "FOXC1_000020" "g.1611236A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1611001A>G" "" "VUS" "" "0000527827" "0" "30" "6" "1611239" "1611239" "subst" "5.54816E-5" "01804" "FOXC1_000021" "g.1611239G>A" "" "" "" "FOXC1(NM_001453.2):c.559G>A (p.(Asp187Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1611004G>A" "" "likely benign" "" "0000527846" "0" "30" "6" "1611523" "1611523" "subst" "0" "01943" "FOXC1_000023" "g.1611523G>T" "" "" "" "FOXC1(NM_001453.3):c.843G>T (p.R281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1611288G>T" "" "likely benign" "" "0000527850" "0" "30" "6" "1611569" "1611569" "subst" "0.00299562" "01804" "FOXC1_000024" "g.1611569C>T" "" "" "" "FOXC1(NM_001453.3):c.889C>T (p.(Pro297Ser), p.P297S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1611334C>T" "" "likely benign" "" "0000527863" "0" "30" "6" "1612156" "1612161" "dup" "0" "01943" "FOXC1_000028" "g.1612156_1612161dup" "" "" "" "FOXC1(NM_001453.3):c.1476_1481dupGGCGGC (p.A494_A495dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1611921_1611926dup" "" "likely benign" "" "0000527864" "0" "50" "6" "1612166" "1612166" "subst" "8.04385E-5" "01804" "FOXC1_000029" "g.1612166G>A" "" "" "" "FOXC1(NM_001453.2):c.1486G>A (p.(Gly496Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1611931G>A" "" "VUS" "" "0000610201" "0" "30" "6" "1611819" "1611821" "dup" "0" "01804" "FOXC1_000003" "g.1611819_1611821dup" "" "" "" "FOXC1(NM_001453.2):c.1122_1123insGGC (p.(Gly380dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1611584_1611586dup" "" "likely benign" "" "0000610202" "0" "30" "6" "1611850" "1611850" "subst" "0" "02330" "FOXC1_000032" "g.1611850C>G" "" "" "" "FOXC1(NM_001453.3):c.1170C>G (p.A390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1611615C>G" "" "likely benign" "" "0000621665" "0" "30" "6" "1611398" "1611398" "subst" "0.000116007" "01943" "FOXC1_000030" "g.1611398C>T" "" "" "" "FOXC1(NM_001453.3):c.718C>T (p.L240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1611163C>T" "" "likely benign" "" "0000655529" "0" "30" "6" "1610884" "1610884" "subst" "8.14598E-6" "01943" "FOXC1_000033" "g.1610884G>C" "" "" "" "FOXC1(NM_001453.3):c.204G>C (p.T68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1610649G>C" "" "likely benign" "" "0000677676" "0" "30" "6" "1611013" "1611013" "subst" "0.000698517" "01943" "FOXC1_000034" "g.1611013C>T" "" "" "" "FOXC1(NM_001453.3):c.333C>T (p.R111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677681" "0" "50" "6" "1612207" "1612207" "subst" "4.20076E-6" "01943" "FOXC1_000035" "g.1612207G>C" "" "" "" "FOXC1(NM_001453.3):c.1527G>C (p.E509D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689675" "0" "30" "6" "1611280" "1611280" "subst" "0.000771565" "01943" "FOXC1_000036" "g.1611280G>C" "" "" "" "FOXC1(NM_001453.3):c.600G>C (p.Q200H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689676" "0" "30" "6" "1612092" "1612092" "subst" "0.000124493" "01943" "FOXC1_000037" "g.1612092C>G" "" "" "" "FOXC1(NM_001453.3):c.1412C>G (p.T471S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000697279" "0" "70" "6" "1610927" "1610927" "subst" "0" "01164" "FOXC1_000038" "g.1610927T>C" "" "" "" "" "ACMG grading: PM1,PM2,PP2,PP3" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000699902" "0" "50" "6" "0" "0" "" "0" "00006" "LAMA2_000000" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000704162" "0" "90" "6" "1611128" "1611128" "del" "0" "01807" "FOXC1_000039" "g.1611128del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.1610893del" "" "pathogenic" "" "0000720793" "0" "90" "6" "1610821" "1610821" "subst" "0" "02329" "FOXC1_000004" "g.1610821C>G" "" "" "" "FOXC1(NM_001453.3):c.141C>G (p.Y47*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720794" "0" "50" "6" "1611212" "1611212" "subst" "2.44858E-5" "02329" "FOXC1_000019" "g.1611212G>C" "" "" "" "FOXC1(NM_001453.3):c.532G>C (p.D178H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720796" "0" "50" "6" "1611641" "1611641" "subst" "0" "02329" "FOXC1_000031" "g.1611641C>T" "" "" "" "FOXC1(NM_001453.3):c.961C>T (p.P321S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720797" "0" "50" "6" "1612031" "1612032" "ins" "0" "01943" "FOXC1_000040" "g.1612031_1612032insCCG" "" "" "" "FOXC1(NM_001453.2):c.1351_1352insCCG (p.(Gly450_Gly451insAla)), FOXC1(NM_001453.3):c.1351_1352insCCG (p.G450_G451insA)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720798" "0" "30" "6" "1612330" "1612330" "subst" "0.000930183" "01943" "FOXC1_000041" "g.1612330T>C" "" "" "" "FOXC1(NM_001453.3):c.1650T>C (p.C550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000736864" "1" "50" "6" "1611819" "1611821" "del" "0" "00000" "FOXC1_000042" "g.1611819_1611821del" "1/181 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "rs751183793" "0" "" "" "g.1611584_1611586del" "" "VUS" "" "0000736865" "1" "50" "6" "1612039" "1612041" "dup" "0" "00000" "FOXC1_000008" "g.1612039_1612041dup" "2/181 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "rs572346201" "0" "" "" "g.1611804_1611806dup" "" "VUS" "" "0000736866" "1" "50" "6" "1612156" "1612161" "del" "0" "00000" "FOXC1_000043" "g.1612156_1612161del" "1/181 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "rs771540524" "0" "" "" "g.1611921_1611926del" "" "VUS" "" "0000765961" "0" "70" "6" "1611233" "1611235" "del" "0" "00000" "FOXC1_000044" "g.1611233_1611235del" "" "{PMID:Huang 2015:26310487}" "" "" "" "Germline" "" "" "0" "" "" "g.1610998_1611000del" "" "likely pathogenic" "" "0000797371" "0" "70" "6" "1611398" "1611399" "del" "0" "00000" "FOXC1_000054" "g.1611398_1611399del" "" "{PMID:Patel 2019:30653986}" "" "c.718_719delCT, c.889C-->T; p.Leu240Valfs*65, p.Pro297Ser" "confirmed with Sanger sequencing; heterozygous" "De novo" "?" "" "0" "" "" "g.1611163_1611164del" "" "likely pathogenic" "" "0000797383" "0" "70" "6" "1611047" "1611047" "subst" "0" "00000" "FOXC1_000051" "g.1611047C>T" "" "{PMID:Patel 2019:30653986}" "" "c.367C-->T; p.Gln123*" "no Sanger sequencing; heterozygous" "Germline" "?" "" "0" "" "" "g.1610812C>T" "" "likely pathogenic" "" "0000797384" "0" "70" "6" "1611067" "1611067" "subst" "0" "00000" "FOXC1_000053" "g.1611067C>A" "" "{PMID:Patel 2019:30653986}" "" "c.387C-->A, c.1239G-->C; p.Asn129Lys, p.Gln413His" "confirmed with Sanger sequencing; heterozygous" "De novo" "?" "" "0" "" "" "g.1610832C>A" "" "likely pathogenic" "" "0000797385" "0" "70" "6" "1610654" "1612372" "del" "0" "00000" "FOXC1_000045" "g.1610654_1612372del" "" "{PMID:Patel 2019:30653986}" "" "chr6:1610653-1612371; p.?" "no Sanger sequencing; heterozygous" "Germline" "?" "" "0" "" "" "g.1610419_1612137del" "" "likely pathogenic" "" "0000797386" "0" "70" "6" "1610755" "1610755" "subst" "0" "00000" "FOXC1_000047" "g.1610755C>G" "" "{PMID:Patel 2019:30653986}" "" "c.75C-->G; p.Tyr25*" "no Sanger sequencing; heterozygous" "Germline" "?" "" "0" "" "" "g.1610520C>G" "" "likely pathogenic" "" "0000797387" "0" "70" "6" "1611733" "1611736" "dup" "0" "00000" "FOXC1_000055" "g.1611733_1611736dup" "" "{PMID:Patel 2019:30653986}" "" "c.1053_1056dup; p.Tyr353Argfs*176" "no Sanger sequencing; heterozygous" "Germline" "?" "" "0" "" "" "g.1611498_1611501dup" "" "likely pathogenic" "" "0000797388" "0" "70" "6" "1610654" "1612372" "dup" "0" "00000" "FOXC1_000046" "g.1610654_1612372dup" "" "{PMID:Patel 2019:30653986}" "" "chr6:1610653-1612371; p.?" "no Sanger sequencing; heterozygous" "Germline" "?" "" "0" "" "" "g.1610419_1612137dup" "" "likely pathogenic" "" "0000797389" "0" "70" "6" "1611045" "1611046" "ins" "0" "00000" "FOXC1_000050" "g.1611045_1611046insCT" "" "{PMID:Patel 2019:30653986}" "" "c.365_366insCT, c.368_370delinsC; p.Trp122Cysfs*60, p.Gln123Profs*182" "no Sanger sequencing; heterozygous" "Germline" "?" "" "0" "" "" "g.1610810_1610811insCT" "" "likely pathogenic" "" "0000797390" "0" "70" "6" "1611047" "1611047" "subst" "0" "00000" "FOXC1_000051" "g.1611047C>T" "" "{PMID:Patel 2019:30653986}" "" "error in annotation: c.367C-->T instead of C>G; p.Gln70*" "no Sanger sequencing; heterozygous" "Germline" "?" "" "0" "" "" "g.1610812C>T" "" "likely pathogenic" "" "0000797391" "0" "70" "6" "1610872" "1610872" "subst" "4.08197E-6" "00000" "FOXC1_000048" "g.1610872C>T" "" "{PMID:Patel 2019:30653986}" "" "c.192C-->T; p.Tyr64*" "confirmed with Sanger sequencing; heterozygous" "Germline" "?" "" "0" "" "" "g.1610637C>T" "" "likely pathogenic" "" "0000797392" "0" "70" "6" "1610654" "1612372" "del" "0" "00000" "FOXC1_000045" "g.1610654_1612372del" "" "{PMID:Patel 2019:30653986}" "" "chr6:1610653-1612371; p.?" "no Sanger sequencing; heterozygous" "Germline" "?" "" "0" "" "" "g.1610419_1612137del" "" "likely pathogenic" "" "0000797435" "0" "70" "6" "1611569" "1611569" "subst" "0.00299562" "00000" "FOXC1_000024" "g.1611569C>T" "" "{PMID:Patel 2019:30653986}" "" "c.718_719delCT, c.889C-->T; p.Leu240Valfs*65, p.Pro297Ser" "confirmed with Sanger sequencing; heterozygous" "Germline" "?" "" "0" "" "" "g.1611334C>T" "" "likely pathogenic" "" "0000797445" "0" "70" "6" "1611919" "1611919" "subst" "0" "00000" "FOXC1_000056" "g.1611919G>C" "" "{PMID:Patel 2019:30653986}" "" "c.387C-->A, c.1239G-->C; p.Asn129Lys, p.Gln413His" "confirmed with Sanger sequencing; heterozygous" "De novo" "?" "" "0" "" "" "g.1611684G>C" "" "likely pathogenic" "" "0000797446" "0" "70" "6" "1611048" "1611050" "delins" "0" "00000" "FOXC1_000052" "g.1611048_1611050delinsC" "" "{PMID:Patel 2019:30653986}" "" "c.365_366insCT, c.368_370delinsC; p.Trp122Cysfs*60, p.Gln123Profs*182" "no Sanger sequencing; heterozygous" "Germline" "?" "" "0" "" "" "g.1610813_1610815delinsC" "" "likely pathogenic" "" "0000798383" "20" "70" "6" "1610886" "1610886" "del" "0" "04164" "FOXC1_000049" "g.1610886del" "" "" "" "205delC" "" "Germline" "?" "" "0" "" "" "g.1610651del" "" "pathogenic" "" "0000798565" "0" "70" "6" "1610916" "1610916" "subst" "0" "04164" "FOXC1_000058" "g.1610916C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000798566" "0" "70" "6" "1610921" "1610923" "dup" "0" "04164" "FOXC1_000059" "g.1610921_1610923dup" "" "" "" "240_241insTAT" "" "Germline" "" "" "0" "" "" "g.1610686_1610688dup" "" "pathogenic" "ACMG" "0000798567" "11" "70" "6" "1610926" "1610926" "subst" "0" "04164" "FOXC1_000010" "g.1610926C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000798568" "0" "70" "6" "1610927" "1610927" "subst" "0" "04164" "FOXC1_000038" "g.1610927T>C" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000798569" "0" "70" "6" "1610937" "1610937" "subst" "0" "04164" "FOXC1_000060" "g.1610937T>C" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000798570" "0" "70" "6" "1610955" "1610955" "subst" "0" "04164" "FOXC1_000061" "g.1610955A>C" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000798571" "0" "70" "6" "1611044" "1611044" "subst" "0" "04164" "FOXC1_000062" "g.1611044T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000798572" "0" "70" "6" "1611060" "1611060" "subst" "0" "04164" "FOXC1_000063" "g.1611060G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000798573" "0" "70" "6" "1611060" "1611060" "subst" "0" "04164" "FOXC1_000063" "g.1611060G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000798574" "0" "70" "6" "1611068" "1611068" "subst" "0" "04164" "FOXC1_000064" "g.1611068C>T" "" "" "" "" "" "De novo" "?" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000798575" "0" "70" "6" "1611072" "1611072" "subst" "0" "04164" "FOXC1_000065" "g.1611072C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000798576" "0" "70" "6" "1611079" "1611079" "subst" "0" "04164" "FOXC1_000066" "g.1611079C>G" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000798577" "0" "70" "6" "1611110" "1611110" "subst" "0" "04164" "FOXC1_000067" "g.1611110A>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000798578" "0" "70" "6" "1611162" "1611162" "subst" "0" "04164" "FOXC1_000068" "g.1611162T>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000798579" "0" "70" "6" "1611193" "1611198" "del" "0" "04164" "FOXC1_000069" "g.1611193_1611198del" "" "" "" "" "" "Germline" "no" "" "0" "" "" "g.1610958_1610963del" "" "pathogenic" "ACMG" "0000798580" "0" "70" "6" "1611272" "1611273" "delins" "0" "04164" "FOXC1_000057" "g.1611272_1611273delinsC" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000798581" "0" "70" "6" "1611398" "1611399" "del" "0" "04164" "FOXC1_000054" "g.1611398_1611399del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.1611163_1611164del" "" "pathogenic" "ACMG" "0000798582" "0" "70" "6" "1612220" "1612220" "del" "0" "04164" "FOXC1_000072" "g.1612220del" "" "" "" "1540delC" "" "De novo" "?" "" "0" "" "" "g.1611985del" "" "pathogenic" "ACMG" "0000798597" "0" "90" "6" "1478641" "2694750" "del" "0" "04164" "FOXC1_000073" "g.(?_1478641)_(2694750_?)del" "" "" "" "g.1478641-2694750del" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000798598" "0" "90" "6" "382441" "2333070" "del" "0" "04164" "FOXC1_000073" "g.(?_382441)_(2333070_?)del" "" "" "" "g.382441-2333070del" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000802428" "0" "30" "6" "1610772" "1610780" "del" "0" "02325" "FOXC1_000016" "g.1610772_1610780del" "" "" "" "FOXC1(NM_001453.2):c.81_89del (p.(Ala31_Ala33del)), FOXC1(NM_001453.3):c.92_100delCGGCGGCCG (p.A31_A33del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802429" "0" "30" "6" "1611574" "1611574" "subst" "0" "01943" "FOXC1_000025" "g.1611574C>T" "" "" "" "FOXC1(NM_001453.3):c.894C>T (p.S298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802432" "0" "30" "6" "1611642" "1611642" "subst" "0.000397286" "01943" "FOXC1_000070" "g.1611642C>A" "" "" "" "FOXC1(NM_001453.3):c.962C>A (p.P321Q, p.(Pro321Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802433" "0" "30" "6" "1611814" "1611814" "subst" "0" "01943" "FOXC1_000071" "g.1611814C>T" "" "" "" "FOXC1(NM_001453.3):c.1134C>T (p.G378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000814391" "0" "70" "6" "1610936" "1610936" "subst" "0" "00000" "FOXC1_000074" "g.1610936C>T" "" "{PMID:Lenassi 2020:31848469}" "" "FOXC1 c.256C>T p.(Leu86Phe) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.1610701C>T" "" "likely pathogenic" "ACMG" "0000814427" "0" "70" "6" "1611161" "1611161" "subst" "0" "00000" "FOXC1_000075" "g.1611161A>G" "" "{PMID:Lenassi 2020:31848469}" "" "FOXC1 c.481A>G p.(Met161Val) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.1610926A>G" "" "likely pathogenic" "ACMG" "0000847175" "11" "90" "6" "1611041" "1611041" "subst" "0" "00006" "FOXC1_000076" "g.1611041G>A" "" "{PMID:Thomas 2022:34085946}" "" "c.361G>A" "" "Germline" "" "" "0" "" "" "g.1610806G>A" "" "pathogenic" "" "0000851128" "0" "90" "6" "1611080" "1611080" "subst" "0" "02327" "FOXC1_000077" "g.1611080G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887112" "0" "50" "6" "1610889" "1610889" "subst" "0" "02325" "FOXC1_000078" "g.1610889A>G" "" "" "" "FOXC1(NM_001453.3):c.209A>G (p.Q70R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912431" "0" "70" "6" "1610955" "1610955" "subst" "0" "02327" "FOXC1_000061" "g.1610955A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000921885" "0" "90" "6" "1611689" "1611692" "dup" "0" "00006" "FOXC1_000079" "g.1611689_1611692dup" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.1611454_1611457dup" "" "pathogenic (dominant)" "" "0000963903" "0" "50" "6" "1611212" "1611212" "subst" "2.44858E-5" "02325" "FOXC1_000019" "g.1611212G>C" "" "" "" "FOXC1(NM_001453.3):c.532G>C (p.D178H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963907" "0" "10" "6" "1611569" "1611569" "subst" "0.00299562" "02326" "FOXC1_000024" "g.1611569C>T" "" "" "" "FOXC1(NM_001453.3):c.889C>T (p.(Pro297Ser), p.P297S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977076" "0" "30" "6" "1612039" "1612041" "del" "0" "01804" "FOXC1_000080" "g.1612039_1612041del" "" "" "" "FOXC1(NM_001453.3):c.1359_1361del (p.(Gly456del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985965" "0" "70" "6" "1544299" "1626937" "del" "0" "00006" "FOXC1_000081" "g.1544299_1626937del" "" "{PMID:Hall 2024:38050128}" "" "g.1544064_1626702del" "del FOXC1" "Germline/De novo (untested)" "" "" "0" "" "" "g.1544064_1626702del" "" "likely pathogenic (dominant)" "" "0000985966" "0" "70" "6" "1581752" "1615317" "del" "0" "00006" "FOXC1_000081" "g.1581752_1615317del" "" "{PMID:Hall 2024:38050128}" "" "g.1581517_1615082del" "del FOXC1" "Germline/De novo (untested)" "" "" "0" "" "" "g.1581517_1615082del" "" "likely pathogenic (dominant)" "" "0000985967" "0" "70" "6" "1604687" "1686298" "del" "0" "00006" "FOXC1_000081" "g.1604687_1686298del" "" "{PMID:Hall 2024:38050128}" "" "g.1604452_1686063del" "del FOXC1" "Germline/De novo (untested)" "" "" "0" "" "" "g.1604452_1686063del" "" "likely pathogenic (dominant)" "" "0000986001" "3" "90" "16" "56419460" "56423388" "del" "0" "00006" "AMFR_000004" "g.56419460_56423388del" "" "{PMID:Deng 2023:37119330}" "" "del ex9-10 hg38:chr16:56385545-56389473" "" "Germline" "yes" "" "0" "" "" "g.56385548_56389476del" "" "pathogenic (recessive)" "" "0000995530" "0" "50" "6" "1611005" "1611005" "subst" "0" "01804" "FOXC1_000082" "g.1611005A>G" "" "" "" "FOXC1(NM_001453.2):c.325A>G (p.(Met109Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995532" "0" "50" "6" "1611540" "1611540" "subst" "0" "01804" "FOXC1_000083" "g.1611540G>A" "" "" "" "FOXC1(NM_001453.2):c.860G>A (p.(Gly287Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995533" "0" "50" "6" "1611642" "1611642" "subst" "0" "01804" "FOXC1_000084" "g.1611642C>G" "" "" "" "FOXC1(NM_001453.2):c.962C>G (p.(Pro321Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995534" "0" "50" "6" "1611770" "1611770" "subst" "0" "01804" "FOXC1_000085" "g.1611770C>T" "" "" "" "FOXC1(NM_001453.2):c.1090C>T (p.(Pro364Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995535" "0" "50" "6" "1611980" "1611980" "subst" "0" "01804" "FOXC1_000086" "g.1611980C>T" "" "" "" "FOXC1(NM_001453.2):c.1300C>T (p.(Pro434Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995536" "0" "30" "6" "1612031" "1612032" "ins" "0" "01804" "FOXC1_000040" "g.1612031_1612032insCCG" "" "" "" "FOXC1(NM_001453.2):c.1351_1352insCCG (p.(Gly450_Gly451insAla)), FOXC1(NM_001453.3):c.1351_1352insCCG (p.G450_G451insA)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995537" "0" "30" "6" "1612035" "1612036" "ins" "0" "01804" "FOXC1_000087" "g.1612035_1612036insTGG" "" "" "" "FOXC1(NM_001453.2):c.1355_1356insTGG (p.(Gly452dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995538" "0" "30" "6" "1612044" "1612044" "subst" "0" "01804" "FOXC1_000088" "g.1612044G>A" "" "" "" "FOXC1(NM_001453.2):c.1364G>A (p.(Gly455Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995539" "0" "30" "6" "1612163" "1612163" "subst" "1.79624E-5" "01804" "FOXC1_000089" "g.1612163G>A" "" "" "" "FOXC1(NM_001453.2):c.1483G>A (p.(Ala495Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035604" "0" "30" "6" "1611085" "1611085" "subst" "0.00766338" "01804" "FOXC1_000090" "g.1611085C>T" "" "" "" "FOXC1(NM_001453.3):c.405C>T (p.(Cys135=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035605" "0" "30" "6" "1612243" "1612243" "subst" "0.00749773" "01804" "FOXC1_000091" "g.1612243T>G" "" "" "" "FOXC1(NM_001453.3):c.1563T>G (p.(Ser521=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046057" "0" "30" "6" "1611280" "1611280" "subst" "0.000771565" "02325" "FOXC1_000036" "g.1611280G>C" "" "" "" "FOXC1(NM_001453.3):c.600G>C (p.Q200H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047168" "0" "70" "6" "1610893" "1610894" "ins" "0" "03820" "FOXC1_000092" "g.1610893_1610894insT" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.1610658_1610659insT" "" "pathogenic" "ACMG" "0001052242" "0" "30" "6" "1611439" "1611439" "subst" "0" "01804" "FOXC1_000093" "g.1611439G>T" "" "" "" "FOXC1(NM_001453.3):c.759G>T (p.(Ala253=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052243" "0" "30" "6" "1611642" "1611642" "subst" "0.000397286" "01804" "FOXC1_000070" "g.1611642C>A" "" "" "" "FOXC1(NM_001453.3):c.962C>A (p.P321Q, p.(Pro321Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052244" "0" "50" "6" "1612006" "1612008" "del" "0" "01804" "FOXC1_000094" "g.1612006_1612008del" "" "" "" "FOXC1(NM_001453.3):c.1326_1328del (p.(Ser443del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052245" "0" "30" "6" "1612159" "1612161" "dup" "0" "01804" "FOXC1_000095" "g.1612159_1612161dup" "" "" "" "FOXC1(NM_001453.3):c.1479_1481dup (p.(Ala495dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052246" "0" "50" "6" "1612242" "1612242" "subst" "0" "01804" "FOXC1_000096" "g.1612242C>T" "" "" "" "FOXC1(NM_001453.3):c.1562C>T (p.(Ser521Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FOXC1 ## Count = 117 "{{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}}" "0000090044" "00008069" "70" "1193" "0" "1196" "0" "c.1193_1196dup" "r.(?)" "p.(Met400Serfs*129)" "1" "0000169271" "00008069" "00" "1139" "0" "1141" "0" "c.1139_1141dup" "r.(?)" "p.(Gly380dup)" "" "0000169282" "00008069" "00" "1139" "0" "1141" "0" "c.1139_1141dup" "r.(?)" "p.(Gly380dup)" "" "0000169324" "00008069" "00" "1139" "0" "1141" "0" "c.1139_1141dup" "r.(?)" "p.(Gly380dup)" "" "0000169373" "00008069" "00" "1139" "0" "1141" "0" "c.1139_1141dup" "r.(?)" "p.(Gly380dup)" "" "0000169439" "00008069" "00" "1139" "0" "1141" "0" "c.1139_1141dup" "r.(?)" "p.(Gly380dup)" "" "0000222660" "00008069" "90" "609" "0" "609" "0" "c.609del" "r.(?)" "p.(Ala204Argfs*111)" "1" "0000222662" "00008069" "90" "609" "0" "609" "0" "c.609del" "r.(?)" "p.(Ala204Argfs*111)" "1" "0000222664" "00008069" "90" "609" "0" "609" "0" "c.609del" "r.(?)" "p.(Ala204Argfs*111)" "1" "0000330796" "00008069" "50" "688" "0" "688" "0" "c.688A>G" "r.(?)" "p.(Asn230Asp)" "" "0000330798" "00008069" "50" "1359" "0" "1361" "0" "c.1359_1361dup" "r.(?)" "p.(Gly456dup)" "" "0000330799" "00008069" "30" "1585" "0" "1585" "0" "c.1585T>C" "r.(?)" "p.(Cys529Arg)" "" "0000339005" "00008069" "90" "380" "0" "380" "0" "c.380G>T" "r.(?)" "p.(Arg127Leu)" "" "0000348699" "00008069" "90" "392" "0" "392" "0" "c.392C>A" "r.(?)" "p.(Ser131Ter)" "" "0000348700" "00008069" "70" "392" "0" "392" "0" "c.392C>G" "r.(?)" "p.(Ser131Trp)" "" "0000349186" "00008069" "70" "246" "0" "246" "0" "c.246C>G" "r.(?)" "p.(Ser82Arg)" "" "0000527821" "00008069" "30" "92" "0" "100" "0" "c.92_100del" "r.(?)" "p.(Ala31_Ala33del)" "" "0000527822" "00008069" "30" "159" "0" "159" "0" "c.159C>T" "r.(?)" "p.(Ala53=)" "" "0000527823" "00008069" "50" "291" "0" "291" "0" "c.291G>C" "r.(?)" "p.(Lys97Asn)" "" "0000527824" "00008069" "70" "392" "0" "392" "0" "c.392C>G" "r.(?)" "p.(Ser131Trp)" "" "0000527826" "00008069" "50" "556" "0" "556" "0" "c.556A>G" "r.(?)" "p.(Lys186Glu)" "" "0000527827" "00008069" "30" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Asp187Asn)" "" "0000527846" "00008069" "30" "843" "0" "843" "0" "c.843G>T" "r.(?)" "p.(Arg281=)" "" "0000527850" "00008069" "30" "889" "0" "889" "0" "c.889C>T" "r.(?)" "p.(Pro297Ser)" "" "0000527863" "00008069" "30" "1476" "0" "1481" "0" "c.1476_1481dup" "r.(?)" "p.(Ala494_Ala495dup)" "" "0000527864" "00008069" "50" "1486" "0" "1486" "0" "c.1486G>A" "r.(?)" "p.(Gly496Ser)" "" "0000610201" "00008069" "30" "1139" "0" "1141" "0" "c.1139_1141dup" "r.(?)" "p.(Gly380dup)" "" "0000610202" "00008069" "30" "1170" "0" "1170" "0" "c.1170C>G" "r.(?)" "p.(Ala390=)" "" "0000621665" "00008069" "30" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Leu240=)" "" "0000655529" "00008069" "30" "204" "0" "204" "0" "c.204G>C" "r.(?)" "p.(Thr68=)" "" "0000677676" "00008069" "30" "333" "0" "333" "0" "c.333C>T" "r.(?)" "p.(Arg111=)" "" "0000677681" "00008069" "50" "1527" "0" "1527" "0" "c.1527G>C" "r.(?)" "p.(Glu509Asp)" "" "0000689675" "00008069" "30" "600" "0" "600" "0" "c.600G>C" "r.(?)" "p.(Gln200His)" "" "0000689676" "00008069" "30" "1412" "0" "1412" "0" "c.1412C>G" "r.(?)" "p.(Thr471Ser)" "" "0000697279" "00008069" "70" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Tyr83His)" "" "0000699902" "00008069" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Ser339Phe)" "" "0000704162" "00008069" "90" "448" "0" "448" "0" "c.448del" "r.(?)" "p.(Ser150Alafs*31)" "" "0000720793" "00008069" "90" "141" "0" "141" "0" "c.141C>G" "r.(?)" "p.(Tyr47Ter)" "" "0000720794" "00008069" "50" "532" "0" "532" "0" "c.532G>C" "r.(?)" "p.(Asp178His)" "" "0000720796" "00008069" "50" "961" "0" "961" "0" "c.961C>T" "r.(?)" "p.(Pro321Ser)" "" "0000720797" "00008069" "50" "1351" "0" "1352" "0" "c.1351_1352insCCG" "r.(?)" "p.(Gly450_Gly451insAla)" "" "0000720798" "00008069" "30" "1650" "0" "1650" "0" "c.1650T>C" "r.(?)" "p.(Cys550=)" "" "0000736864" "00008069" "50" "1139" "0" "1141" "0" "c.1139_1141del" "r.(?)" "p.(Gly380del)" "" "0000736865" "00008069" "50" "1359" "0" "1361" "0" "c.1359_1361dup" "r.(?)" "p.(Gly456dup)" "" "0000736866" "00008069" "50" "1476" "0" "1481" "0" "c.1476_1481del" "r.(?)" "p.(Ala494_Ala495del)" "" "0000765961" "00008069" "70" "553" "0" "555" "0" "c.553_555del" "r.(?)" "p.(Glu185del)" "" "0000797371" "00008069" "70" "718" "0" "719" "0" "c.718_719del" "r.(?)" "p.(Leu240Valfs*65)" "" "0000797383" "00008069" "70" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Gln123*)" "" "0000797384" "00008069" "70" "387" "0" "387" "0" "c.387C>A" "r.(?)" "p.(Asn129Lys)" "" "0000797385" "00008069" "70" "-27" "0" "1692" "0" "c.-27_*30del" "r.(?)" "p.0?" "" "0000797386" "00008069" "70" "75" "0" "75" "0" "c.75C>G" "r.(?)" "p.(Tyr25*)" "" "0000797387" "00008069" "70" "1053" "0" "1056" "0" "c.1053_1056dup" "r.(?)" "p.(Tyr353Argfs*176)" "" "0000797388" "00008069" "70" "-27" "0" "1692" "0" "c.-27_*30dup" "r.(?)" "p.(?)" "" "0000797389" "00008069" "70" "365" "0" "366" "0" "c.365_366insCT" "r.(?)" "p.(Trp122Cysfs*60)" "" "0000797390" "00008069" "70" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Gln70*)" "" "0000797391" "00008069" "70" "192" "0" "192" "0" "c.192C>T" "r.(?)" "p.(Tyr64*)" "" "0000797392" "00008069" "70" "-27" "0" "1692" "0" "c.-27_*30del" "r.(?)" "p.0?" "" "0000797435" "00008069" "70" "889" "0" "889" "0" "c.889C>T" "r.(?)" "p.(Pro297Ser)" "" "0000797445" "00008069" "70" "1239" "0" "1239" "0" "c.1239G>C" "r.(?)" "p.(Gln413His)" "" "0000797446" "00008069" "70" "368" "0" "370" "0" "c.368_370delinsC" "r.(?)" "p.(Gln123Profs*182)" "" "0000798383" "00008069" "70" "206" "0" "206" "0" "c.206del" "r.(?)" "p.(Pro69Argfs*9)" "" "0000798565" "00008069" "70" "236" "0" "236" "0" "c.236C>T" "r.(?)" "p.(Pro79Leu)" "" "0000798566" "00008069" "70" "241" "0" "243" "0" "c.241_243dup" "r.(?)" "p.(Tyr81dup)" "" "0000798567" "00008069" "70" "246" "0" "246" "0" "c.246C>G" "r.(?)" "p.(Ser82Arg)" "" "0000798568" "00008069" "70" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Tyr83His)" "" "0000798569" "00008069" "70" "257" "0" "257" "0" "c.257T>C" "r.(?)" "p.(Leu86Pro)" "" "0000798570" "00008069" "70" "275" "0" "275" "0" "c.275A>C" "r.(?)" "p.(Gln92Pro)" "" "0000798571" "00008069" "70" "364" "0" "364" "0" "c.364T>G" "r.(?)" "p.(Trp122Gly)" "" "0000798572" "00008069" "70" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127His)" "" "0000798573" "00008069" "70" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127His)" "" "0000798574" "00008069" "70" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Leu130Phe)" "" "0000798575" "00008069" "70" "392" "0" "392" "0" "c.392C>T" "r.(?)" "p.(Ser131Leu)" "" "0000798576" "00008069" "70" "399" "0" "399" "0" "c.399C>G" "r.(?)" "p.(Asn133Lys)" "" "0000798577" "00008069" "70" "430" "0" "430" "0" "c.430A>T" "r.(?)" "p.(Lys144*)" "" "0000798578" "00008069" "70" "482" "0" "482" "0" "c.482T>A" "r.(?)" "p.(Met161Lys)" "" "0000798579" "00008069" "70" "513" "0" "518" "0" "c.513_518del" "r.(?)" "p.(Arg172_Arg173del)" "" "0000798580" "00008069" "70" "592" "0" "593" "0" "c.592_593delinsC" "r.(?)" "p.(Gly198Profs*117)" "" "0000798581" "00008069" "70" "718" "0" "719" "0" "c.718_719del" "r.(?)" "p.(Leu240Valfs*65)" "" "0000798582" "00008069" "70" "1540" "0" "1540" "0" "c.1540del" "r.(?)" "p.(Gln514Argfs*5)" "" "0000798597" "00008069" "90" "0" "0" "0" "0" "c.-531_*1790{0}" "r.0" "p.0" "" "0000798598" "00008069" "90" "0" "0" "0" "0" "c.-531_*1790{0}" "r.0" "p.0" "" "0000802428" "00008069" "30" "92" "0" "100" "0" "c.92_100del" "r.(?)" "p.(Ala31_Ala33del)" "" "0000802429" "00008069" "30" "894" "0" "894" "0" "c.894C>T" "r.(?)" "p.(Ser298=)" "" "0000802432" "00008069" "30" "962" "0" "962" "0" "c.962C>A" "r.(?)" "p.(Pro321Gln)" "" "0000802433" "00008069" "30" "1134" "0" "1134" "0" "c.1134C>T" "r.(?)" "p.(Gly378=)" "" "0000814391" "00008069" "70" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Leu86Phe)" "" "0000814427" "00008069" "70" "481" "0" "481" "0" "c.481A>G" "r.(?)" "p.(Met161Val)" "" "0000847175" "00008069" "90" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Gly121Ser)" "" "0000851128" "00008069" "90" "400" "0" "400" "0" "c.400G>T" "r.(?)" "p.(Glu134*)" "" "0000887112" "00008069" "50" "209" "0" "209" "0" "c.209A>G" "r.(?)" "p.(Gln70Arg)" "" "0000912431" "00008069" "70" "275" "0" "275" "0" "c.275A>C" "r.(?)" "p.(Gln92Pro)" "" "0000921885" "00008069" "90" "1009" "0" "1012" "0" "c.1009_1012dup" "r.(?)" "p.(Ala338GlyfsTer191)" "" "0000963903" "00008069" "50" "532" "0" "532" "0" "c.532G>C" "r.(?)" "p.(Asp178His)" "" "0000963907" "00008069" "10" "889" "0" "889" "0" "c.889C>T" "r.(?)" "p.(Pro297Ser)" "" "0000977076" "00008069" "30" "1359" "0" "1361" "0" "c.1359_1361del" "r.(?)" "p.(Gly456del)" "" "0000985965" "00008069" "70" "" "0" "" "0" "c.-1_*1790{0}" "r.0" "p.0" "_1_" "0000985966" "00008069" "70" "" "0" "" "0" "c.-1_*1790{0}" "r.0" "p.0" "_1_" "0000985967" "00008069" "70" "" "0" "" "0" "c.-1_*1790{0}" "r.0" "p.0" "_1_" "0000986001" "00008069" "90" "1086" "-97" "1380" "375" "c.1086-97_1380+375del" "r.(1086_1380del)" "p.(Asn362LysfsTer22)" "8i_10i" "0000995530" "00008069" "50" "325" "0" "325" "0" "c.325A>G" "r.(?)" "p.(Met109Val)" "" "0000995532" "00008069" "50" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Gly287Asp)" "" "0000995533" "00008069" "50" "962" "0" "962" "0" "c.962C>G" "r.(?)" "p.(Pro321Arg)" "" "0000995534" "00008069" "50" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Pro364Ser)" "" "0000995535" "00008069" "50" "1300" "0" "1300" "0" "c.1300C>T" "r.(?)" "p.(Pro434Ser)" "" "0000995536" "00008069" "30" "1351" "0" "1352" "0" "c.1351_1352insCCG" "r.(?)" "p.(Gly450_Gly451insAla)" "" "0000995537" "00008069" "30" "1355" "0" "1356" "0" "c.1355_1356insTGG" "r.(?)" "p.(Gly456dup)" "" "0000995538" "00008069" "30" "1364" "0" "1364" "0" "c.1364G>A" "r.(?)" "p.(Gly455Glu)" "" "0000995539" "00008069" "30" "1483" "0" "1483" "0" "c.1483G>A" "r.(?)" "p.(Ala495Thr)" "" "0001035604" "00008069" "30" "405" "0" "405" "0" "c.405C>T" "r.(?)" "p.(=)" "" "0001035605" "00008069" "30" "1563" "0" "1563" "0" "c.1563T>G" "r.(?)" "p.(=)" "" "0001046057" "00008069" "30" "600" "0" "600" "0" "c.600G>C" "r.(?)" "p.(Gln200His)" "" "0001047168" "00008069" "70" "213" "0" "214" "0" "c.213_214insT" "r.(?)" "p.(Gln72Serfs*11)" "" "0001052242" "00008069" "30" "759" "0" "759" "0" "c.759G>T" "r.(?)" "p.(=)" "" "0001052243" "00008069" "30" "962" "0" "962" "0" "c.962C>A" "r.(?)" "p.(Pro321Gln)" "" "0001052244" "00008069" "50" "1326" "0" "1328" "0" "c.1326_1328del" "r.(?)" "p.(Ser443del)" "" "0001052245" "00008069" "30" "1479" "0" "1481" "0" "c.1479_1481dup" "r.(?)" "p.(Ala495dup)" "" "0001052246" "00008069" "50" "1562" "0" "1562" "0" "c.1562C>T" "r.(?)" "p.(Ser521Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 60 "{{screeningid}}" "{{variantid}}" "0000059208" "0000090044" "0000104468" "0000169271" "0000104470" "0000169282" "0000104479" "0000169324" "0000104494" "0000169373" "0000104510" "0000169439" "0000133447" "0000222660" "0000133448" "0000222662" "0000133450" "0000222664" "0000315190" "0000697279" "0000317265" "0000699902" "0000321333" "0000704162" "0000337234" "0000736864" "0000337235" "0000736865" "0000337236" "0000736866" "0000365011" "0000765961" "0000383310" "0000797371" "0000383310" "0000797435" "0000383322" "0000797383" "0000383323" "0000797384" "0000383323" "0000797445" "0000383324" "0000797385" "0000383325" "0000797386" "0000383326" "0000797387" "0000383327" "0000797388" "0000383328" "0000797389" "0000383328" "0000797446" "0000383329" "0000797390" "0000383330" "0000797391" "0000383331" "0000797392" "0000383972" "0000798383" "0000384122" "0000798565" "0000384123" "0000798566" "0000384124" "0000798567" "0000384125" "0000798568" "0000384126" "0000798569" "0000384127" "0000798570" "0000384129" "0000798571" "0000384130" "0000798572" "0000384131" "0000798573" "0000384132" "0000798574" "0000384133" "0000798575" "0000384134" "0000798576" "0000384135" "0000798577" "0000384136" "0000798578" "0000384137" "0000798579" "0000384138" "0000798580" "0000384139" "0000798581" "0000384140" "0000798582" "0000384156" "0000798597" "0000384157" "0000798598" "0000386711" "0000814391" "0000386747" "0000814427" "0000409959" "0000847175" "0000435712" "0000921885" "0000452026" "0000985965" "0000452027" "0000985966" "0000452028" "0000985967" "0000452052" "0000986001" "0000467831" "0001047168"