### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FOXF1) # 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}}" "FOXF1" "forkhead box F1" "16" "q24" "unknown" "NG_016273.1" "UD_132119087397" "" "https://www.LOVD.nl/FOXF1" "" "1" "3809" "2294" "601089" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/FOXF1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2018-10-22 17:58:35" "00000" "2025-01-20 12:00:04" ## 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}}" "00008084" "FOXF1" "forkhead box F1" "001" "NM_001451.2" "" "NP_001442.2" "" "" "" "-43" "2519" "1140" "86544133" "86548070" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02038" "ACDMPV" "dysplasia, capillary, alveolar, with misalignment of pulmonary veins (ACDMPV)" "AD" "265380" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FOXF1" "02038" ## Individuals ## Do not remove or alter this header ## ## Count = 56 "{{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}}" "00183317" "" "" "" "1" "" "00006" "Szafransky ASHG2018 P428" "" "F" "" "Canada" "" "0" "" "" "French-Canadian" "ASHG2018-P428" "00250212" "" "" "" "1" "" "03033" "{PMID:Casanova 2017:28256047}, {DOI:Casanova 2017:10.1002/humu.23213}" "" "" "" "" "" "0" "" "" "" "Pat3" "00250213" "" "" "" "1" "" "03033" "{PMID:Casanova 2017:28256047}, {DOI:Casanova 2017:10.1002/humu.23213}" "two affected twins with similar phenotype and variant" "" "" "" "" "0" "" "" "" "Pat1/Pat2" "00250214" "" "" "" "1" "" "02996" "" "" "" "?" "" "" "0" "" "" "Asian" "" "00250215" "" "" "" "1" "" "02996" "" "" "" "?" "" "" "0" "" "" "white" "" "00250216" "" "" "" "1" "" "00000" "" "" "F" "" "" "1d" "0" "" "" "" "" "00250217" "" "" "" "1" "" "00000" "" "" "M" "" "" "?" "0" "" "" "" "" "00250218" "" "" "" "1" "" "00000" "" "" "M" "" "" "40d" "0" "" "" "" "" "00250219" "" "" "" "1" "" "00000" "" "" "F" "" "" "15d" "0" "" "" "" "" "00250220" "" "" "" "1" "" "00000" "" "" "M" "" "" "18d" "0" "" "" "" "" "00250221" "" "" "" "1" "" "00000" "" "" "M" "" "" "5d" "0" "" "" "" "" "00250222" "" "" "" "1" "" "00000" "" "" "F" "" "" "25d" "0" "" "" "" "" "00250223" "" "" "" "1" "" "02996" "" "" "M" "?" "" "10d" "0" "" "" "" "" "00250224" "" "" "" "1" "" "02996" "" "" "M" "?" "" "00y00m00d12h" "0" "" "" "" "" "00250225" "" "" "" "1" "" "02996" "" "" "F" "?" "" "1d" "0" "" "" "" "" "00250226" "" "" "" "1" "" "02996" "" "" "M" "?" "" "47d" "0" "" "" "" "" "00250227" "" "" "" "1" "" "02996" "" "" "F" "?" "" "" "0" "" "" "Hispanic" "" "00250228" "" "" "" "1" "" "02996" "" "" "M" "?" "" "" "0" "" "" "white" "" "00250229" "" "" "" "1" "" "02996" "" "" "M" "?" "" "" "0" "" "" "white" "" "00250230" "" "" "" "1" "" "02996" "" "" "F" "?" "" "" "0" "" "" "white" "" "00250231" "" "" "" "1" "" "02996" "" "" "M" "?" "" "" "0" "" "" "white" "" "00250232" "" "" "" "1" "" "02996" "" "" "M" "?" "" "" "0" "" "" "white" "" "00250233" "" "" "" "1" "" "02996" "" "" "M" "?" "" "" "0" "" "" "Hispanic" "" "00250234" "" "" "" "1" "" "02996" "" "" "" "?" "" "" "0" "" "" "white" "" "00250235" "" "" "" "1" "" "02996" "" "" "?" "?" "" "" "0" "" "" "white" "" "00250236" "" "" "" "1" "" "02996" "" "" "F" "?" "" "" "0" "" "" "white" "" "00250237" "" "" "" "1" "" "02996" "" "" "F" "?" "" "" "0" "" "" "white" "" "00250238" "" "" "" "1" "" "02996" "" "" "?" "no" "" "" "0" "" "" "white" "" "00250239" "" "" "" "1" "" "02996" "" "" "?" "?" "" "" "0" "" "" "unknown" "" "00250240" "" "" "" "1" "" "02996" "" "" "M" "?" "" "" "0" "" "" "white" "" "00250241" "" "" "" "1" "" "02996" "" "" "M" "?" "" "" "0" "" "" "white" "" "00250242" "" "" "" "1" "" "02996" "" "" "F" "?" "" "" "0" "" "" "white" "" "00250243" "" "" "" "1" "" "02996" "" "" "M" "?" "" "" "0" "" "" "Asian/white" "" "00250244" "" "" "" "1" "" "02996" "" "" "F" "?" "" "" "0" "" "" "white" "" "00250245" "" "" "" "1" "" "02996" "" "" "?" "no" "" "" "0" "" "" "white" "" "00250246" "" "" "" "1" "" "02996" "" "" "F" "?" "" "" "0" "" "" "African American" "" "00250247" "" "" "" "1" "" "02996" "" "" "M" "?" "" "" "0" "" "" "white" "" "00250248" "" "" "" "1" "" "02996" "" "" "" "?" "" "" "0" "" "" "African American" "" "00250249" "" "" "" "1" "" "02996" "" "" "M" "no" "" "" "0" "" "" "white" "" "00250250" "" "" "" "1" "" "02996" "" "" "F" "no" "" "" "0" "" "" "white" "" "00250251" "" "" "" "1" "" "02996" "" "" "M" "no" "" "" "0" "" "" "white" "" "00250252" "" "" "" "1" "" "02996" "" "" "F" "?" "" "" "0" "" "" "white" "" "00250253" "" "" "" "1" "" "02996" "" "" "F" "?" "" "" "0" "" "" "white" "" "00250254" "" "" "" "1" "" "02996" "" "" "F" "?" "" "" "0" "" "" "white" "" "00250255" "" "" "" "1" "" "02996" "" "" "?" "?" "" "" "0" "" "" "unknown" "" "00250256" "" "" "" "1" "" "02996" "" "" "M" "?" "" "" "0" "" "" "Asian" "" "00250257" "" "" "" "1" "" "02996" "" "" "?" "?" "" "" "0" "" "" "unknown" "" "00250258" "" "" "" "1" "" "02996" "" "" "M" "?" "" "" "0" "" "" "white" "" "00250259" "" "" "" "1" "" "02996" "" "" "M" "?" "" "" "0" "" "" "white" "" "00250260" "" "" "" "1" "" "02996" "" "" "F" "?" "" "" "0" "" "" "Hispanic" "" "00250261" "" "" "" "1" "" "02996" "" "" "F" "?" "" "" "0" "" "" "white" "" "00250262" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00250263" "" "" "" "1" "" "02996" "" "" "M" "?" "" "" "0" "" "" "Hispanic" "" "00250264" "" "" "" "1" "" "02996" "" "" "?" "?" "" "" "0" "" "" "unknown" "" "00250265" "" "" "" "1" "" "02996" "" "" "F" "?" "" "" "0" "" "" "white" "" "00291566" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 56 "{{individualid}}" "{{diseaseid}}" "00183317" "00198" "00250212" "00198" "00250213" "00198" "00250214" "02038" "00250215" "02038" "00250216" "02038" "00250217" "00198" "00250218" "02038" "00250219" "02038" "00250220" "00198" "00250221" "00198" "00250222" "00198" "00250223" "02038" "00250224" "02038" "00250225" "02038" "00250226" "02038" "00250227" "02038" "00250228" "02038" "00250229" "02038" "00250230" "02038" "00250231" "02038" "00250232" "02038" "00250233" "02038" "00250234" "02038" "00250235" "02038" "00250236" "02038" "00250237" "02038" "00250238" "02038" "00250239" "02038" "00250240" "02038" "00250241" "02038" "00250242" "02038" "00250243" "02038" "00250244" "02038" "00250245" "02038" "00250246" "02038" "00250247" "02038" "00250248" "02038" "00250249" "02038" "00250250" "02038" "00250251" "02038" "00250252" "02038" "00250253" "02038" "00250254" "02038" "00250255" "02038" "00250256" "02038" "00250257" "02038" "00250258" "02038" "00250259" "02038" "00250260" "02038" "00250261" "02038" "00250262" "00000" "00250263" "02038" "00250264" "02038" "00250265" "02038" "00291566" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 02038 ## Count = 54 "{{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}}" "0000144054" "00198" "00183317" "00006" "Unknown" "" "pulmonary hypertension, no alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV)" "" "" "" "" "" "" "" "" "" "pulmonary hypertension" "" "0000188758" "00198" "00250212" "03033" "Isolated (sporadic)" "" "Alveolar capillary dysplasia with annular pancreas, duodenal stenosis and intestinal malrotation. Birth weight of 2900g at 38 weeks gestation." "" "" "" "" "" "" "" "" "" "" "" "0000188760" "02038" "00250214" "02996" "Isolated (sporadic)" "" "posterior urethral valves" "" "" "" "" "" "" "" "" "" "" "" "0000188761" "02038" "00250215" "02996" "Isolated (sporadic)" "" "complex; butterfly vertebra" "" "" "" "" "" "" "" "" "" "" "" "0000188762" "02038" "00250216" "00000" "Isolated (sporadic)" "" "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" "" "" "" "" "" "" "" "" "0000188763" "00198" "00250217" "00000" "Isolated (sporadic)" "" "elective termination pregnancy 22w; hypoplastic left heart syndrome; dilated renal pelvices" "" "" "" "" "" "" "" "" "" "" "" "0000188764" "02038" "00250218" "00000" "Isolated (sporadic)" "" "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" "" "" "" "" "" "" "" "" "" "" "" "0000188765" "02038" "00250219" "00000" "Isolated (sporadic)" "" "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" "" "" "" "" "" "" "" "" "" "" "" "0000188766" "00198" "00250220" "00000" "Isolated (sporadic)" "" "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); severe respiratory distress" "" "" "" "" "" "" "" "" "" "" "" "0000188767" "00198" "00250221" "00000" "Isolated (sporadic)" "" "died from pulmonary insufficiency; gestation 35w; birth weight 1700g; respiratory distress requiring inhaled nitrous oxide, hydrocortisone, prostaglandin and FiO2 100%, attributed to RDS; atrioventricular septal defect, ostium primum atrial septal defect, small ventricular septal defect, patent ductus arteriosus, mildly hypoplastic left ventricle, bicuspid aortic valve; possible duodenal atresia, possible intestinal malrotation; moderate bilateral pelvicaliectasis, mild to moderate proximal urethral dilatation, probable mild to moderate distal ureteral dilatation; absent spleen, transverse orientation liver, compatible with abdominal heterotaxy; severe respiratory distress" "" "" "" "" "" "" "" "" "" "" "" "0000188768" "00198" "00250222" "00000" "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" "" "" "" "" "" "" "" "" "" "" "" "0000188769" "02038" "00250223" "02996" "Isolated (sporadic)" "" "gestation 32w; birth weight 2470g; bilobed right lung, partial atrio-ventricular canal defect, patent ductus arteriosus, intestinal malrotation, annular pancreas and duodenal stenosis, bilateral hydronephrosis, hydroureter, dilatation of urinary bladder" "" "" "" "" "" "" "" "" "" "" "" "0000188770" "02038" "00250224" "02996" "Isolated (sporadic)" "" "gestation 32w; birth weight 2460g; obstructive renal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000188771" "02038" "00250225" "02996" "Isolated (sporadic)" "" "gestation 35w; birth weight 2490g; partial anomalous pulmonary venous connection with absent left upper lobe pulmonary vein, malrotation of bowel, congenital short bowel, small omphalocele, bilateral severe hydronephrosis, hydroureter, bladder dilatation, micrognathia, low set ears" "" "" "" "" "" "" "" "" "" "" "" "0000188772" "02038" "00250226" "02996" "Isolated (sporadic)" "" "gestation 38w; birth weight 5057g; intestinal malrotation, Meckel\'s diverticulum" "" "" "" "" "" "" "" "" "" "" "" "0000188773" "02038" "00250227" "02996" "Isolated (sporadic)" "" "Malrotation of intestine, imperforate anus, butterfly vertebra" "" "" "" "" "" "" "" "" "" "" "" "0000188774" "02038" "00250228" "02996" "Isolated (sporadic)" "" "Incomplete rotation of bowel, high arched palate, hypocalvaria, incomplete lung lobation" "" "" "" "" "" "" "" "" "" "" "" "0000188775" "02038" "00250229" "02996" "Isolated (sporadic)" "" "Malrotation of the intestine, hydronephrosis, bilateral hydroureter, enlarged and thick bladder" "" "" "" "" "" "" "" "" "" "" "" "0000188776" "02038" "00250230" "02996" "Isolated (sporadic)" "" "None" "" "" "" "" "" "" "" "" "" "" "" "0000188777" "02038" "00250231" "02996" "Isolated (sporadic)" "" "Abnormal lung lobation, malrotation of the intestine, duodenal atresia" "" "" "" "" "" "" "" "" "" "" "" "0000188778" "02038" "00250232" "02996" "Isolated (sporadic)" "" "Hyaline membrane disease, patent ductus arteriosus, multiple intestinal atresias, imperforate anus, undescended testis, Hirschprung disease" "" "" "" "" "" "" "" "" "" "" "" "0000188779" "02038" "00250233" "02996" "Isolated (sporadic)" "" "none identified" "" "" "" "" "" "" "" "" "" "" "" "0000188780" "02038" "00250234" "02996" "Familial" "" "duodenal and anal atresia, malrotation of the large intestine and gallbladder agenesis" "" "" "" "" "" "" "" "" "" "" "" "0000188781" "02038" "00250235" "02996" "Isolated (sporadic)" "" "Atrial septal defect, polyhydramnios" "" "" "" "" "" "" "" "" "" "" "" "0000188782" "02038" "00250236" "02996" "Isolated (sporadic)" "" "Intestinal malrotation" "" "" "" "" "" "" "" "" "" "" "" "0000188783" "02038" "00250237" "02996" "Isolated (sporadic)" "" "Bilobed right lung" "" "" "" "" "" "" "" "" "" "" "" "0000188784" "02038" "00250238" "02996" "Isolated (sporadic)" "" "unknown" "" "" "" "" "" "" "" "" "" "" "" "0000188785" "02038" "00250239" "02996" "Isolated (sporadic)" "" "unknown" "" "" "" "" "" "" "" "" "" "" "" "0000188786" "02038" "00250240" "02996" "Isolated (sporadic)" "" "Hydronephrosis, partial stenosis at transition to colon transversum" "" "" "" "" "" "" "" "" "" "" "" "0000188787" "02038" "00250241" "02996" "Isolated (sporadic)" "" "Malrotation of the intestine, atrial septal defect, thickened distended bladder with muscular hypertrophy" "" "" "" "" "" "" "" "" "" "" "" "0000188788" "02038" "00250242" "02996" "Isolated (sporadic)" "" "Meckel’s divurticulum, moderate acute cortical involution of thymus" "" "" "" "" "" "" "" "" "" "" "" "0000188789" "02038" "00250243" "02996" "Familial" "" "Bilobed right lung, partial atrio-ventricular canal defect, patent ductus arteriosus, intestinal malrotation, annular pancreas, duodenal stenosis, bilateral hydronephrosis, hydroureter, dilatation of urinary bladder" "" "" "" "" "" "" "" "" "" "" "" "0000188790" "02038" "00250244" "02996" "Isolated (sporadic)" "" "none identified" "" "" "" "" "" "" "" "" "" "" "" "0000188791" "02038" "00250245" "02996" "Isolated (sporadic)" "" "unknown" "" "" "" "" "" "" "" "" "" "" "" "0000188792" "02038" "00250246" "02996" "Isolated (sporadic)" "" "none identified" "" "" "" "" "" "" "" "" "" "" "" "0000188793" "02038" "00250247" "02996" "Isolated (sporadic)" "" "Megaduodenum, pyloric stenosis, annular pancreas" "" "" "" "" "" "" "" "" "" "" "" "0000188794" "02038" "00250248" "02996" "Isolated (sporadic)" "" "Atrial septal defects" "" "" "" "" "" "" "" "" "" "" "" "0000188795" "02038" "00250249" "02996" "Familial" "" "Uretral stenosis, megavesica, severe hydronephrosis" "" "" "" "" "" "" "" "" "" "" "" "0000188796" "02038" "00250250" "02996" "Familial" "" "Isolated arhinencephaly" "" "" "" "" "" "" "" "" "" "" "" "0000188797" "02038" "00250251" "02996" "Familial" "" "Severe obstructive uropathy" "" "" "" "" "" "" "" "" "" "" "" "0000188798" "02038" "00250252" "02996" "Isolated (sporadic)" "" "Duodenal stenosis, annular pancreas, malrotation of large intestine" "" "" "" "" "" "" "" "" "" "" "" "0000188799" "02038" "00250253" "02996" "Isolated (sporadic)" "" "unknown" "" "" "" "" "" "" "" "" "" "" "" "0000188800" "02038" "00250254" "02996" "Isolated (sporadic)" "" "Duodenal atresia, polysplenia, annular pancreas and left hydronephrosis" "" "" "" "" "" "" "" "" "" "" "" "0000188801" "02038" "00250255" "02996" "-" "" "unknown" "" "" "" "" "" "" "" "" "" "" "" "0000188802" "02038" "00250256" "02996" "Isolated (sporadic)" "" "None" "" "" "" "" "" "" "" "" "" "" "" "0000188803" "02038" "00250257" "02996" "-" "" "unknown" "" "" "" "" "" "" "" "" "" "" "" "0000188804" "02038" "00250258" "02996" "Isolated (sporadic)" "" "Mild aortic coarctation, Meckel\'s diverticulum" "" "" "" "" "" "" "" "" "" "" "" "0000188805" "02038" "00250259" "02996" "Isolated (sporadic)" "" "none identified" "" "" "" "" "" "" "" "" "" "" "" "0000188806" "02038" "00250260" "02996" "Isolated (sporadic)" "" "Bilateral incomplete lobation of lungs, Lymphangiectasis" "" "" "" "" "" "" "" "" "" "" "" "0000188807" "02038" "00250261" "02996" "Isolated (sporadic)" "" "No lung lobation" "" "" "" "" "" "" "" "" "" "" "" "0000188808" "00000" "00250262" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188809" "02038" "00250263" "02996" "Isolated (sporadic)" "" "none identified" "" "" "" "" "" "" "" "" "" "" "" "0000188810" "02038" "00250264" "02996" "Isolated (sporadic)" "" "unknown" "" "" "" "" "" "" "" "" "" "" "" "0000188811" "02038" "00250265" "02996" "Isolated (sporadic)" "" "Atrial septal defect" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 56 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184278" "00183317" "1" "00006" "00006" "2018-10-22 18:12:59" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000251317" "00250212" "1" "03033" "03033" "2017-02-06 15:19:51" "" "" "PCR" "DNA" "" "" "0000251318" "00250213" "1" "03033" "03033" "2017-02-06 15:16:29" "" "" "PCR" "DNA" "" "" "0000251319" "00250214" "1" "02996" "02996" "2013-03-05 00:26:44" "" "" "PCR;SEQ" "DNA" "" "" "0000251320" "00250215" "1" "02996" "02996" "2013-03-05 00:36:34" "" "" "PCR;SEQ" "DNA" "" "" "0000251321" "00250216" "1" "00000" "00006" "2012-11-24 11:19:52" "" "" "arrayCGH" "DNA" "" "" "0000251322" "00250217" "1" "00000" "00006" "2012-11-24 11:19:52" "" "" "arrayCGH;FISH" "DNA" "" "" "0000251323" "00250218" "1" "00000" "00006" "2012-11-24 11:19:52" "" "" "arrayCGH;FISH" "DNA" "" "" "0000251324" "00250219" "1" "00000" "00006" "2012-11-24 11:19:52" "" "" "arrayCGH;FISH" "DNA" "" "" "0000251325" "00250220" "1" "00000" "00006" "2012-11-24 11:19:52" "" "" "arrayCGH;FISH" "DNA" "" "" "0000251326" "00250221" "1" "00000" "00006" "2012-11-24 11:19:52" "" "" "arrayCGH" "DNA" "" "" "0000251327" "00250222" "1" "00000" "00006" "2012-11-24 11:19:52" "" "" "arrayCGH" "DNA" "" "" "0000251328" "00250223" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "SEQ" "DNA" "" "" "0000251329" "00250224" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "SEQ" "DNA" "" "" "0000251330" "00250225" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "SEQ" "DNA" "" "" "0000251331" "00250226" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "SEQ" "DNA" "" "" "0000251332" "00250227" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251333" "00250228" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251334" "00250229" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251335" "00250230" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251336" "00250231" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251337" "00250232" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251338" "00250233" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251339" "00250234" "1" "02996" "02996" "2013-03-05 00:44:20" "" "" "PCR;SEQ" "DNA" "" "" "0000251340" "00250235" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251341" "00250236" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251342" "00250237" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251343" "00250238" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251344" "00250239" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251345" "00250240" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251346" "00250241" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251347" "00250242" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251348" "00250243" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251349" "00250244" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251350" "00250245" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251351" "00250246" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251352" "00250247" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251353" "00250248" "1" "02996" "02996" "2013-03-05 00:31:57" "" "" "PCR;SEQ" "DNA" "" "" "0000251354" "00250249" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251355" "00250250" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251356" "00250251" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251357" "00250252" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251358" "00250253" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251359" "00250254" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251360" "00250255" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "SEQ" "DNA" "" "" "0000251361" "00250256" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251362" "00250257" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "SEQ" "DNA" "" "" "0000251363" "00250258" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251364" "00250259" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251365" "00250260" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251366" "00250261" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251367" "00250262" "1" "00000" "00006" "2012-11-24 12:24:35" "" "" "SEQ" "DNA" "" "" "0000251368" "00250263" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251369" "00250264" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000251370" "00250265" "1" "02996" "02996" "2012-11-21 14:36:23" "" "" "PCR;SEQ" "DNA" "" "" "0000292734" "00291566" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 55 "{{screeningid}}" "{{geneid}}" "0000184278" "FOXF1" "0000251317" "FOXF1" "0000251318" "FOXF1" "0000251319" "FOXF1" "0000251320" "FOXF1" "0000251321" "FOXF1" "0000251322" "FOXF1" "0000251323" "FOXF1" "0000251324" "FOXF1" "0000251325" "FOXF1" "0000251326" "FOXF1" "0000251327" "FOXF1" "0000251328" "FOXF1" "0000251329" "FOXF1" "0000251330" "FOXF1" "0000251331" "FOXF1" "0000251332" "FOXF1" "0000251333" "FOXF1" "0000251334" "FOXF1" "0000251335" "FOXF1" "0000251336" "FOXF1" "0000251337" "FOXF1" "0000251338" "FOXF1" "0000251339" "FOXF1" "0000251340" "FOXF1" "0000251341" "FOXF1" "0000251342" "FOXF1" "0000251343" "FOXF1" "0000251344" "FOXF1" "0000251345" "FOXF1" "0000251346" "FOXF1" "0000251347" "FOXF1" "0000251348" "FOXF1" "0000251349" "FOXF1" "0000251350" "FOXF1" "0000251351" "FOXF1" "0000251352" "FOXF1" "0000251353" "FOXF1" "0000251354" "FOXF1" "0000251355" "FOXF1" "0000251356" "FOXF1" "0000251357" "FOXF1" "0000251358" "FOXF1" "0000251359" "FOXF1" "0000251360" "FOXF1" "0000251361" "FOXF1" "0000251362" "FOXF1" "0000251363" "FOXF1" "0000251364" "FOXF1" "0000251365" "FOXF1" "0000251366" "FOXF1" "0000251367" "FOXF1" "0000251368" "FOXF1" "0000251369" "FOXF1" "0000251370" "FOXF1" ## 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 = 78 "{{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}}" "0000284078" "0" "70" "16" "86544341" "86544341" "subst" "0" "02326" "FOXF1_000053" "g.86544341C>G" "" "" "" "FOXF1(NM_001451.3):c.166C>G (p.L56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86510735C>G" "" "likely pathogenic" "" "0000284079" "0" "30" "16" "86545065" "86545065" "subst" "0" "02326" "FOXF1_000048" "g.86545065C>T" "" "" "" "FOXF1(NM_001451.3):c.890C>T (p.A297V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86511459C>T" "" "likely benign" "" "0000287848" "0" "90" "16" "86544428" "86544428" "subst" "0" "01943" "FOXF1_000046" "g.86544428T>A" "" "" "" "FOXF1(NM_001451.2):c.253T>A (p.F85I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86510822T>A" "" "pathogenic" "" "0000324955" "0" "50" "16" "86544215" "86544215" "subst" "0" "01804" "FOXF1_000051" "g.86544215G>C" "" "" "" "FOXF1(NM_001451.2):c.40G>C (p.(Gly14Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86510609G>C" "" "VUS" "" "0000408293" "11" "90" "16" "86257745" "86257745" "subst" "0" "00006" "FOXF1_000049" "g.86257745G>A" "" "Szafranski ASHG2018 P428" "" "" "variant absent in 13 ACDMPV patients with heterozygous deletion entire FOXF1 enhancer; variant suggested to alter FOXF1 expression, protective variant (hypermorphic)" "Germline" "" "rs150502618" "0" "" "" "g.86224139G>A" "" "VUS (!)" "" "0000408294" "20" "90" "16" "86200000" "86550000" "del" "0" "00006" "FOXF1_000050" "g.(84000000_86200000)_(86550000_88000000)del" "" "Szafransk ASHG2018 P428" "" "" "~2.5 Mb deletion maternal chromosome 16q23.3q24.1 including ~60 kb transcriptional enhancer region located ~272 kb 5\' FOXF1" "De novo" "-" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000559417" "0" "30" "16" "86545083" "86545083" "subst" "0.00111172" "01804" "FOXF1_000052" "g.86545083G>A" "" "" "" "FOXF1(NM_001451.2):c.908G>A (p.(Ser303Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86511477G>A" "" "likely benign" "" "0000580862" "21" "70" "16" "86544281" "86544281" "del" "0" "03033" "FOXF1_000047" "g.86544281del" "" "{PMID:Casanova 2017:28256047}, {DOI:Casanova 2017:10.1002/humu.23213}" "" "105delG" "" "De novo" "" "" "0" "" "" "g.86510675del" "" "likely pathogenic" "" "0000580863" "21" "70" "16" "86544985" "86544985" "subst" "0" "03033" "FOXF1_000039" "g.86544985G>A" "" "{PMID:Casanova 2017:28256047}, {DOI:Casanova 2017:10.1002/humu.23213}" "" "" "" "De novo" "" "" "0" "" "" "g.86511379G>A" "" "likely pathogenic" "" "0000580864" "0" "55" "16" "86544321" "86544321" "subst" "0" "02996" "FOXF1_000043" "g.86544321C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510715C>A" "" "VUS" "" "0000580865" "0" "55" "16" "86544491" "86544491" "subst" "0" "02996" "FOXF1_000045" "g.86544491T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510885T>C" "" "VUS" "" "0000580866" "20" "95" "16" "0" "0" "" "0" "00000" "FOXF1_000041" "g.?" "" "{PMID:Stankiewicz 2009:19500772}" "" "" "normal 2nd chromosome; deletion 1.5 Mb KIAA5013_FOXL1; de novo, maternal allele" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000580867" "1" "95" "16" "0" "0" "" "0" "00000" "FOXF1_000041" "g.?" "" "{PMID:Stankiewicz 2009:19500772}" "" "" "normal 2nd chromosome; deletion 2.0 Mb GINS2_JPH3" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000580868" "20" "95" "16" "0" "0" "" "0" "00000" "FOXF1_000041" "g.?" "" "{PMID:Stankiewicz 2009:19500772}" "" "" "normal 2nd chromosome; deletion 0.9 Mb C16orf74_FOXL1; de novo, maternal allele" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000580869" "20" "95" "16" "0" "0" "" "0" "00000" "FOXF1_000041" "g.?" "" "{PMID:Stankiewicz 2009:19500772}" "" "" "normal 2nd chromosome; deletion 1.0 Mb COX411_FOXL1; de novo, maternal allele" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000580870" "1" "95" "16" "0" "0" "" "0" "00000" "FOXF1_000041" "g.?" "" "{PMID:Stankiewicz 2009:19500772}" "" "" "normal 2nd chromosome; deletion 3.5 Mb ATP2C2_JPH3; de novo in patient" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000580871" "1" "95" "16" "0" "0" "" "0" "00000" "FOXF1_000041" "g.?" "" "{PMID:Stankiewicz 2009:19500772}" "" "" "normal 2nd chromosome; deletion 103 Kb incl. MTHFSD; de novo in patient" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000580872" "20" "95" "16" "0" "0" "" "0" "00000" "FOXF1_000041" "g.?" "" "{PMID:Stankiewicz 2009:19500772}" "" "" "normal 2nd chromosome; deletion 1.8 Mb LOC732275_JPH3; de novo, maternal allele" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000580873" "1" "95" "16" "86544264" "86544264" "subst" "0" "02996" "FOXF1_000002" "g.86544264C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510658C>A" "" "pathogenic" "" "0000580874" "1" "75" "16" "86544320" "86544320" "subst" "0" "02996" "FOXF1_000001" "g.86544320C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510714C>T" "" "likely pathogenic" "" "0000580875" "0" "75" "16" "86544330" "86544330" "subst" "0" "02996" "FOXF1_000021" "g.86544330C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510724C>T" "" "likely pathogenic" "" "0000580876" "0" "75" "16" "86544333" "86544333" "subst" "0" "02996" "FOXF1_000013" "g.86544333A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510727A>G" "" "likely pathogenic" "" "0000580877" "0" "95" "16" "86544366" "86544366" "subst" "0" "02996" "FOXF1_000005" "g.86544366C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510760C>A" "" "pathogenic" "" "0000580878" "0" "75" "16" "86544396" "86544396" "subst" "0" "02996" "FOXF1_000017" "g.86544396T>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510790T>A" "" "likely pathogenic" "" "0000580879" "0" "95" "16" "86544400" "86544400" "subst" "0" "02996" "FOXF1_000035" "g.86544400C>A" "" "{PMID:Stankiewicz 2009:19500772}" "" "150C>A (Y50X)" "normal 2nd chromosome; de novo, in patient" "De novo" "" "" "0" "" "" "g.86510794C>A" "" "pathogenic" "" "0000580880" "0" "95" "16" "86544410" "86544410" "subst" "0" "02996" "FOXF1_000007" "g.86544410C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510804C>T" "" "pathogenic" "" "0000580881" "0" "55" "16" "86544428" "86544428" "subst" "0" "02996" "FOXF1_000046" "g.86544428T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.86510822T>A" "" "VUS" "" "0000580882" "0" "75" "16" "86544428" "86544428" "subst" "0" "02996" "FOXF1_000030" "g.86544428T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510822T>C" "" "likely pathogenic" "" "0000580883" "0" "75" "16" "86544429" "86544429" "subst" "0" "02996" "FOXF1_000026" "g.86544429T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510823T>C" "" "likely pathogenic" "" "0000580884" "0" "75" "16" "86544431" "86544431" "subst" "0" "02996" "FOXF1_000009" "g.86544431C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510825C>T" "" "likely pathogenic" "" "0000580885" "0" "75" "16" "86544447" "86544447" "subst" "0" "02996" "FOXF1_000028" "g.86544447G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510841G>T" "" "likely pathogenic" "" "0000580886" "0" "75" "16" "86544447" "86544448" "delins" "0" "02996" "FOXF1_000022" "g.86544447_86544448delinsAA" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510841_86510842delinsAA" "" "likely pathogenic" "" "0000580887" "0" "75" "16" "86544451" "86544451" "subst" "0" "02996" "FOXF1_000019" "g.86544451G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510845G>A" "" "likely pathogenic" "" "0000580888" "0" "75" "16" "86544461" "86544461" "subst" "0" "02996" "FOXF1_000016" "g.86544461G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510855G>A" "" "likely pathogenic" "" "0000580889" "0" "75" "16" "86544465" "86544465" "subst" "0" "02996" "FOXF1_000025" "g.86544465G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510859G>A" "" "likely pathogenic" "" "0000580890" "21" "75" "16" "86544469" "86544469" "subst" "0" "02996" "FOXF1_000031" "g.86544469C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.86510863C>A" "" "likely pathogenic" "" "0000580891" "0" "75" "16" "86544477" "86544477" "subst" "0" "02996" "FOXF1_000010" "g.86544477C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510871C>T" "" "likely pathogenic" "" "0000580892" "0" "95" "16" "86544485" "86544485" "subst" "0" "02996" "FOXF1_000029" "g.86544485G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510879G>T" "" "pathogenic" "" "0000580893" "0" "95" "16" "86544513" "86544533" "del" "0" "02996" "FOXF1_000011" "g.86544513_86544533del" "" "" "" "338_358del21" "" "De novo" "" "" "0" "" "" "g.86510907_86510927del" "" "pathogenic" "" "0000580894" "0" "75" "16" "86544531" "86544531" "subst" "0" "02996" "FOXF1_000027" "g.86544531G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510925G>A" "" "likely pathogenic" "" "0000580895" "0" "55" "16" "86544552" "86544552" "subst" "0" "02996" "FOXF1_000044" "g.86544552C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86510946C>T" "" "VUS" "" "0000580896" "21" "75" "16" "86544591" "86544591" "subst" "0" "02996" "FOXF1_000032" "g.86544591G>T" "" "{PMID:Sen 2013:22990143}" "" "" "" "Germline" "" "" "0" "" "" "g.86510985G>T" "" "likely pathogenic" "" "0000580897" "21" "75" "16" "86544591" "86544591" "subst" "0" "02996" "FOXF1_000033" "g.86544591G>T" "" "{PMID:Sen 2013:22990143}" "" "" "" "Germline" "" "" "0" "" "" "g.86510985G>T" "" "likely pathogenic" "" "0000580898" "21" "75" "16" "86544591" "86544591" "subst" "0" "02996" "FOXF1_000034" "g.86544591G>T" "" "{PMID:Sen 2013:22990143}" "" "" "" "Germline" "" "" "0" "" "" "g.86510985G>T" "" "likely pathogenic" "" "0000580899" "0" "95" "16" "86544714" "86544714" "subst" "0" "02996" "FOXF1_000024" "g.86544714C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86511108C>A" "" "pathogenic" "" "0000580900" "0" "95" "16" "86544866" "86544873" "del" "0" "02996" "FOXF1_000006" "g.86544866_86544873del" "" "" "" "691_698del8" "" "De novo" "" "" "0" "" "" "g.86511260_86511267del" "" "pathogenic" "" "0000580901" "0" "95" "16" "86544885" "86544885" "dup" "0" "02996" "FOXF1_000018" "g.86544885dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86511279dup" "" "pathogenic" "" "0000580902" "0" "95" "16" "86544985" "86544985" "subst" "0" "02996" "FOXF1_000039" "g.86544985G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.86511379G>A" "" "pathogenic" "" "0000580903" "0" "95" "16" "86545024" "86545025" "del" "0" "02996" "FOXF1_000023" "g.86545024_86545025del" "" "" "" "849_850del2" "" "De novo" "" "" "0" "" "" "g.86511418_86511419del" "" "pathogenic" "" "0000580904" "0" "95" "16" "86545025" "86545025" "dup" "0" "02996" "FOXF1_000036" "g.86545025dup" "" "{PMID:Stankiewicz 2009:19500772}" "" "775dupT (Y259LfsX11)" "normal 2nd chromosome; de novo, in patient" "De novo" "" "" "0" "" "" "g.86511419dup" "" "pathogenic" "" "0000580905" "0" "95" "16" "86545037" "86545037" "subst" "0" "02996" "FOXF1_000040" "g.86545037C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.86511431C>T" "" "pathogenic" "" "0000580906" "1" "95" "16" "86545047" "86545054" "del" "0" "02996" "FOXF1_000003" "g.86545047_86545054del" "" "" "" "872_879del8" "" "De novo" "" "" "0" "" "" "g.86511441_86511448del" "" "pathogenic" "" "0000580907" "0" "95" "16" "86545074" "86545074" "del" "0" "02996" "FOXF1_000015" "g.86545074del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86511468del" "" "pathogenic" "" "0000580908" "0" "95" "16" "86545074" "86545078" "dup" "0" "02996" "FOXF1_000004" "g.86545074_86545078dup" "" "" "" "899_903dup5" "" "De novo" "" "" "0" "" "" "g.86511468_86511472dup" "" "pathogenic" "" "0000580909" "0" "95" "16" "86545111" "86545111" "del" "0" "02996" "FOXF1_000014" "g.86545111del" "" "" "" "936Gdel1" "" "De novo" "" "" "0" "" "" "g.86511505del" "" "pathogenic" "" "0000580910" "11" "11" "16" "86545456" "86545456" "subst" "0" "02996" "FOXF1_000042" "g.86545456C>G" "" "" "" "" "normal 2nd chromosome;" "Germline" "" "" "0" "" "" "g.86511850C>G" "" "benign" "" "0000580911" "0" "55" "16" "86545456" "86545456" "subst" "0" "00000" "FOXF1_000042" "g.86545456C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.86511850C>G" "" "VUS" "" "0000580912" "0" "75" "16" "86546539" "86546539" "subst" "8.18003E-6" "02996" "FOXF1_000008" "g.86546539C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86512933C>T" "" "likely pathogenic" "" "0000580913" "0" "95" "16" "86546572" "86546573" "ins" "0" "02996" "FOXF1_000020" "g.86546572_86546573insA" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86512966_86512967insA" "" "pathogenic" "" "0000580914" "0" "95" "16" "86546582" "86546583" "del" "0" "02996" "FOXF1_000037" "g.86546582_86546583del" "" "{PMID:Stankiewicz 2009:19500772}" "" "956_957delTT (F319CfsX66)" "normal 2nd chromosome; de novo, in patient" "De novo" "" "" "0" "" "" "g.86512976_86512977del" "" "pathogenic" "" "0000580915" "11" "95" "16" "86546689" "86546689" "subst" "0" "02996" "FOXF1_000038" "g.86546689T>C" "" "{PMID:Stankiewicz 2009:19500772}" "" "1063T>C (X355RextX74)" "normal 2nd chromosome; de novo, paternal allele" "De novo" "" "" "0" "" "" "g.86513083T>C" "" "pathogenic" "" "0000580916" "0" "95" "16" "86546690" "86546690" "subst" "0" "02996" "FOXF1_000012" "g.86546690G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.86513084G>C" "" "pathogenic" "" "0000616182" "0" "10" "16" "86544232" "86544234" "del" "0" "02330" "FOXF1_000054" "g.86544232_86544234del" "" "" "" "FOXF1(NM_001451.3):c.57_59delCGG (p.G23del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86510626_86510628del" "" "benign" "" "0000649423" "1" "70" "16" "86544833" "86544833" "subst" "0" "03575" "FOXF1_000055" "g.86544833G>A" "1/2784 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs752504125}" "Germline" "" "rs752504125" "0" "" "" "g.86511227G>A" "" "likely pathogenic" "" "0000680686" "0" "90" "16" "86544866" "86544873" "del" "0" "02325" "FOXF1_000006" "g.86544866_86544873del" "" "" "" "FOXF1(NM_001451.3):c.691_698delGCGGCGGC (p.A231Rfs*61)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000692171" "0" "70" "16" "86544917" "86544917" "subst" "0" "02327" "FOXF1_000056" "g.86544917C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000807633" "0" "90" "16" "86544476" "86544476" "subst" "0" "01943" "FOXF1_000057" "g.86544476T>C" "" "" "" "FOXF1(NM_001451.2):c.301T>C (p.S101P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000846611" "0" "70" "16" "86544446" "86544446" "subst" "0" "03779" "FOXF1_000058" "g.86544446G>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000893209" "0" "10" "16" "86544379" "86544379" "subst" "0.0076077" "02326" "FOXF1_000059" "g.86544379C>G" "" "" "" "FOXF1(NM_001451.3):c.204C>G (p.R68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893210" "0" "30" "16" "86544523" "86544523" "subst" "0.000105747" "02326" "FOXF1_000060" "g.86544523C>T" "" "" "" "FOXF1(NM_001451.3):c.348C>T (p.P116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893211" "0" "30" "16" "86545048" "86545048" "subst" "0.00348944" "02326" "FOXF1_000061" "g.86545048C>T" "" "" "" "FOXF1(NM_001451.3):c.873C>T (p.S291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000902328" "0" "50" "16" "86545113" "86545113" "subst" "0" "03779" "FOXF1_000062" "g.86545113A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000982130" "0" "50" "16" "86546557" "86546557" "subst" "8.16406E-6" "01804" "FOXF1_000064" "g.86546557C>A" "" "" "" "FOXF1(NM_001451.3):c.1006C>A (p.(Pro336Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002632" "0" "50" "16" "86544220" "86544234" "del" "0" "01804" "FOXF1_000065" "g.86544220_86544234del" "" "" "" "FOXF1(NM_001451.2):c.45_59delCGGCGGCGGCGGCGG (p.(Gly16_Gly20del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002633" "0" "30" "16" "86545142" "86545142" "subst" "0" "01804" "FOXF1_000066" "g.86545142G>A" "" "" "" "FOXF1(NM_001451.2):c.967G>A (p.(Ala323Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002634" "0" "50" "16" "86546558" "86546558" "subst" "4.08087E-6" "01804" "FOXF1_000067" "g.86546558C>A" "" "" "" "FOXF1(NM_001451.2):c.1007C>A (p.(Pro336His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002635" "0" "30" "16" "86546629" "86546629" "subst" "0.000134223" "01804" "FOXF1_000068" "g.86546629G>A" "" "" "" "FOXF1(NM_001451.2):c.1078G>A (p.(Gly360Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001021170" "0" "70" "16" "86544237" "86544237" "del" "0" "03779" "FOXF1_000069" "g.86544237del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" ## 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 FOXF1 ## Count = 78 "{{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}}" "0000284078" "00008084" "70" "166" "0" "166" "0" "c.166C>G" "r.(?)" "p.(Leu56Val)" "" "0000284079" "00008084" "30" "890" "0" "890" "0" "c.890C>T" "r.(?)" "p.(Ala297Val)" "" "0000287848" "00008084" "90" "253" "0" "253" "0" "c.253T>A" "r.(?)" "p.(Phe85Ile)" "" "0000324955" "00008084" "50" "40" "0" "40" "0" "c.40G>C" "r.(?)" "p.(Gly14Arg)" "" "0000408293" "00008084" "90" "-286431" "0" "-286431" "0" "c.-286431G>A" "r.?" "p.?" "_1" "0000408294" "00008084" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_2_" "0000559417" "00008084" "30" "908" "0" "908" "0" "c.908G>A" "r.(?)" "p.(Ser303Asn)" "" "0000580862" "00008084" "70" "105" "0" "105" "0" "c.105del" "r.(?)" "p.(Ala36Profs*34)" "?" "0000580863" "00008084" "70" "810" "0" "810" "0" "c.810G>A" "r.(?)" "p.(Trp270*)" "?" "0000580864" "00008084" "55" "146" "0" "146" "0" "c.146C>A" "r.(?)" "p.(Pro49Gln)" "1" "0000580865" "00008084" "55" "316" "0" "316" "0" "c.316T>C" "r.(?)" "p.(Phe106Leu)" "1" "0000580866" "00008084" "95" "0" "0" "0" "0" "c.0" "r.0" "p.0" "1_2" "0000580867" "00008084" "95" "0" "0" "0" "0" "c.0" "r.0" "p.0" "1_2" "0000580868" "00008084" "95" "0" "0" "0" "0" "c.0" "r.0" "p.0" "1_2" "0000580869" "00008084" "95" "0" "0" "0" "0" "c.0" "r.0" "p.0" "1_2" "0000580870" "00008084" "95" "0" "0" "0" "0" "c.0" "r.0" "p.0" "1_2" "0000580871" "00008084" "95" "0" "0" "0" "0" "c.0" "r.0" "p.0" "1_2" "0000580872" "00008084" "95" "0" "0" "0" "0" "c.0" "r.0" "p.0" "1_2" "0000580873" "00008084" "95" "89" "0" "89" "0" "c.89C>A" "r.(?)" "p.(Ser30*)" "1" "0000580874" "00008084" "75" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Pro49Ser)" "1" "0000580875" "00008084" "75" "155" "0" "155" "0" "c.155C>T" "r.(?)" "p.(Ser52Phe)" "1" "0000580876" "00008084" "75" "158" "0" "158" "0" "c.158A>G" "r.(?)" "p.(Tyr53Cys)" "1" "0000580877" "00008084" "95" "191" "0" "191" "0" "c.191C>A" "r.(?)" "p.(Ser64*)" "1" "0000580878" "00008084" "75" "221" "0" "221" "0" "c.221T>A" "r.(?)" "p.(Ile74Asn)" "1" "0000580879" "00008084" "95" "225" "0" "225" "0" "c.225C>A" "r.(?)" "p.(Tyr75*)" "1" "0000580880" "00008084" "95" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Gln79*)" "1" "0000580881" "00008084" "55" "253" "0" "253" "0" "c.253T>A" "r.(?)" "p.(Phe85Ile)" "1" "0000580882" "00008084" "75" "253" "0" "253" "0" "c.253T>C" "r.(?)" "p.(Phe85Leu)" "1" "0000580883" "00008084" "75" "254" "0" "254" "0" "c.254T>C" "r.(?)" "p.(Phe85Ser)" "1" "0000580884" "00008084" "75" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Trp)" "1" "0000580885" "00008084" "75" "272" "0" "272" "0" "c.272G>T" "r.(?)" "p.(Gly91Val)" "1" "0000580886" "00008084" "75" "272" "0" "273" "0" "c.272_273delinsAA" "r.(?)" "p.(Gly91Glu)" "1" "0000580887" "00008084" "75" "276" "0" "276" "0" "c.276G>A" "r.(?)" "p.(Trp92*)" "1" "0000580888" "00008084" "75" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Val96Met)" "1" "0000580889" "00008084" "75" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Arg97His)" "1" "0000580890" "00008084" "75" "294" "0" "294" "0" "c.294C>A" "r.(?)" "p.(His98Gln)" "1" "0000580891" "00008084" "75" "302" "0" "302" "0" "c.302C>T" "r.(?)" "p.(Ser101Leu)" "1" "0000580892" "00008084" "95" "310" "0" "310" "0" "c.310G>T" "r.(?)" "p.(Glu104*)" "1" "0000580893" "00008084" "95" "338" "0" "358" "0" "c.338_358del" "r.(?)" "p.(Leu113_Gly119del)" "1" "0000580894" "00008084" "75" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Gly119Asp)" "1" "0000580895" "00008084" "55" "377" "0" "377" "0" "c.377C>T" "r.(?)" "p.(Pro126Leu)" "1" "0000580896" "00008084" "75" "416" "0" "416" "0" "c.416G>T" "r.(?)" "p.(Arg139Leu)" "1" "0000580897" "00008084" "75" "416" "0" "416" "0" "c.416G>T" "r.(?)" "p.(Arg139Leu)" "1" "0000580898" "00008084" "75" "416" "0" "416" "0" "c.416G>T" "r.(?)" "p.(Arg139Leu)" "1" "0000580899" "00008084" "95" "539" "0" "539" "0" "c.539C>A" "r.(?)" "p.(Ser180*)" "1" "0000580900" "00008084" "95" "691" "0" "698" "0" "c.691_698del" "r.(?)" "p.(Ala231Argfs*61)" "1" "0000580901" "00008084" "95" "710" "0" "710" "0" "c.710dup" "r.(?)" "p.(His238Alafs*57)" "1" "0000580902" "00008084" "95" "810" "0" "810" "0" "c.810G>A" "r.(?)" "p.(Trp270*)" "1" "0000580903" "00008084" "95" "849" "0" "850" "0" "c.849_850del" "r.(?)" "p.(Ile285Glnfs*9)" "1" "0000580904" "00008084" "95" "850" "0" "850" "0" "c.850dup" "r.(?)" "p.(Tyr284Leufs*11)" "1" "0000580905" "00008084" "95" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Gln288*)" "1" "0000580906" "00008084" "95" "872" "0" "879" "0" "c.872_879del" "r.(?)" "p.(Ser291*)" "1" "0000580907" "00008084" "95" "899" "0" "899" "0" "c.899del" "r.(?)" "p.(Leu300Argfs*79)" "1" "0000580908" "00008084" "95" "899" "0" "903" "0" "c.899_903dup" "r.(?)" "p.(Gly302Cysfs*79)" "1" "0000580909" "00008084" "95" "936" "0" "936" "0" "c.936del" "r.(?)" "p.(Tyr313Ilefs*66)" "1" "0000580910" "00008084" "11" "979" "302" "979" "302" "c.979+302C>G" "r.(=)" "p.(=)" "1i" "0000580911" "00008084" "55" "979" "302" "979" "302" "c.979+302C>G" "r.(=)" "p.(=)" "1i" "0000580912" "00008084" "75" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Trp)" "2" "0000580913" "00008084" "95" "1021" "0" "1022" "0" "c.1021_1022insA" "r.(?)" "p.(Arg341Glnfs*70)" "2" "0000580914" "00008084" "95" "1031" "0" "1032" "0" "c.1031_1032del" "r.(?)" "p.(Phe344Cysfs*66)" "2" "0000580915" "00008084" "95" "1138" "0" "1138" "0" "c.1138T>C" "r.(?)" "p.(*380Argext*73)" "2" "0000580916" "00008084" "95" "1139" "0" "1139" "0" "c.1139G>C" "r.(?)" "p.(*380Serext*73)" "2" "0000616182" "00008084" "10" "57" "0" "59" "0" "c.57_59del" "r.(?)" "p.(Gly23del)" "" "0000649423" "00008084" "70" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Gly220Ser)" "" "0000680686" "00008084" "90" "691" "0" "698" "0" "c.691_698del" "r.(?)" "p.(Ala231ArgfsTer61)" "" "0000692171" "00008084" "70" "742" "0" "742" "0" "c.742C>G" "r.(?)" "p.(Leu248Val)" "" "0000807633" "00008084" "90" "301" "0" "301" "0" "c.301T>C" "r.(?)" "p.(Ser101Pro)" "" "0000846611" "00008084" "70" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Cys)" "" "0000893209" "00008084" "10" "204" "0" "204" "0" "c.204C>G" "r.(?)" "p.(Arg68=)" "" "0000893210" "00008084" "30" "348" "0" "348" "0" "c.348C>T" "r.(?)" "p.(Pro116=)" "" "0000893211" "00008084" "30" "873" "0" "873" "0" "c.873C>T" "r.(?)" "p.(Ser291=)" "" "0000902328" "00008084" "50" "938" "0" "938" "0" "c.938A>G" "r.(?)" "p.(Tyr313Cys)" "" "0000982130" "00008084" "50" "1006" "0" "1006" "0" "c.1006C>A" "r.(?)" "p.(Pro336Thr)" "" "0001002632" "00008084" "50" "45" "0" "59" "0" "c.45_59del" "r.(?)" "p.(Gly19_Gly23del)" "" "0001002633" "00008084" "30" "967" "0" "967" "0" "c.967G>A" "r.(?)" "p.(Ala323Thr)" "" "0001002634" "00008084" "50" "1007" "0" "1007" "0" "c.1007C>A" "r.(?)" "p.(Pro336His)" "" "0001002635" "00008084" "30" "1078" "0" "1078" "0" "c.1078G>A" "r.(?)" "p.(Gly360Ser)" "" "0001021170" "00008084" "70" "62" "0" "62" "0" "c.62del" "r.(?)" "p.(Gly21GlufsTer49)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 58 "{{screeningid}}" "{{variantid}}" "0000184278" "0000408293" "0000184278" "0000408294" "0000251317" "0000580862" "0000251318" "0000580863" "0000251319" "0000580864" "0000251320" "0000580865" "0000251321" "0000580866" "0000251322" "0000580867" "0000251323" "0000580868" "0000251324" "0000580869" "0000251325" "0000580870" "0000251326" "0000580871" "0000251327" "0000580872" "0000251328" "0000580879" "0000251329" "0000580904" "0000251330" "0000580914" "0000251331" "0000580910" "0000251331" "0000580915" "0000251332" "0000580873" "0000251333" "0000580874" "0000251334" "0000580875" "0000251335" "0000580876" "0000251336" "0000580877" "0000251337" "0000580878" "0000251338" "0000580880" "0000251339" "0000580881" "0000251340" "0000580882" "0000251341" "0000580883" "0000251342" "0000580884" "0000251343" "0000580885" "0000251344" "0000580886" "0000251345" "0000580887" "0000251346" "0000580888" "0000251347" "0000580889" "0000251348" "0000580890" "0000251349" "0000580891" "0000251350" "0000580892" "0000251351" "0000580893" "0000251352" "0000580894" "0000251353" "0000580895" "0000251354" "0000580896" "0000251355" "0000580897" "0000251356" "0000580898" "0000251357" "0000580899" "0000251358" "0000580900" "0000251359" "0000580901" "0000251360" "0000580902" "0000251361" "0000580903" "0000251362" "0000580905" "0000251363" "0000580906" "0000251364" "0000580907" "0000251365" "0000580908" "0000251366" "0000580909" "0000251367" "0000580911" "0000251368" "0000580912" "0000251369" "0000580913" "0000251370" "0000580916" "0000292734" "0000649423"