### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SOX17) # 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}}" "SOX17" "SRY (sex determining region Y)-box 17" "8" "q11.23" "unknown" "NG_028171.1" "UD_132119013539" "" "https://www.LOVD.nl/SOX17" "" "1" "18122" "64321" "610928" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SOX17_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-12-16 11:33:56" "00000" "2026-01-20 18:57:21" ## 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}}" "00020051" "SOX17" "SRY (sex determining region Y)-box 17" "001" "NM_022454.3" "" "NP_071899.1" "" "" "" "-204" "2146" "1245" "55370495" "55373456" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "03387" "VUR3" "reflux, vesicoureteral, type 3 (VUR-3)" "AD" "613674" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04204" "ASD" "septal defect, atrial (ASD)" "" "" "" "" "" "00006" "2015-02-20 21:20:25" "00006" "2015-12-08 23:53:05" "04334" "VUR" "reflux, vesicoureteral (VUR)" "" "" "" "" "" "00006" "2015-09-21 16:35:53" "" "" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "06960" "PPH" "hypertension, pulmonary, primary" "" "" "" "" "" "00006" "2022-08-22 09:54:49" "" "" "07220" "PPH7" "hypertension, pulmonary, primary, type 7" "AD" "621248" "" "" "" "00006" "2025-12-16 11:33:38" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "SOX17" "03387" "SOX17" "04334" "SOX17" "06960" "SOX17" "07220" ## Individuals ## Do not remove or alter this header ## ## Count = 69 "{{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}}" "00314958" "" "" "" "1" "" "03465" "" "" "" "" "" "" "" "" "" "" "" "00316094" "" "" "" "2" "" "00006" "{PMID:Heidet 2017:28566479}" "affected patient and 1st degree relative" "" "" "France" "" "0" "" "" "" "K127" "00330866" "" "" "" "1" "" "03465" "" "" "" "" "China" "" "0" "" "" "" "" "00471136" "" "" "" "1" "" "04931" "{PMID:Gallego-Zazo 2023:37895315}" "patient, no family history" "M" "" "Spain" "" "0" "" "" "" "HTP1301-Pat1" "00471137" "" "" "" "1" "" "04931" "{PMID:Gallego-Zazo 2023:37895315}" "patient, no family history" "M" "" "Spain" "" "0" "" "" "" "HTP973-Pat2" "00471138" "" "" "" "1" "" "04931" "{PMID:Gallego-Zazo 2023:37895315}" "patient, no family history" "M" "" "Spain" "" "0" "" "" "" "HTP1089-Pat3" "00471139" "" "" "" "1" "" "04931" "{PMID:Gallego-Zazo 2023:37895315}" "patient, no family history" "F" "" "Spain" "" "0" "" "" "" "HTP964-Pat4" "00471140" "" "" "" "1" "" "04931" "{PMID:Gallego-Zazo 2023:37895315}" "patient, no family history" "F" "" "Spain" "" "0" "" "" "" "HTP1010-Pat5" "00471141" "" "" "" "1" "" "04931" "{PMID:Gallego-Zazo 2023:37895315}" "patient, no family history" "M" "" "Spain" "" "0" "" "" "" "HTP379-Pat6" "00471142" "" "" "" "1" "" "04931" "{PMID:Gallego-Zazo 2023:37895315}" "patient, no family history" "M" "" "Spain" "" "0" "" "" "" "SPO-Pat7" "00471143" "" "" "" "1" "" "00006" "{PMID:Graf 2018:29650961}" "patient" "" "" "" "" "0" "" "" "" "" "00471144" "" "" "" "1" "" "00006" "{PMID:Graf 2018:29650961}" "patient" "" "" "" "" "0" "" "" "" "" "00471145" "" "" "" "1" "" "00006" "{PMID:Zhu 2019:31727138}" "patient" "F" "" "United States" "" "0" "" "" "" "" "00471146" "" "" "" "1" "" "00006" "{PMID:Zhu 2018:30029678}" "patient" "F" "" "United States" "" "0" "" "" "" "" "00471147" "" "" "" "1" "" "00006" "{PMID:Zhu 2019:31727138}" "patient" "M" "" "United States" "" "0" "" "" "" "" "00471148" "" "" "" "1" "" "00006" "{PMID:Graf 2018:29650961}" "patient" "" "" "" "" "0" "" "" "" "" "00471149" "" "" "" "1" "" "00006" "{PMID:Montani 2022:35618278}" "patient" "F" "" "France" "" "0" "" "" "" "" "00471150" "" "" "" "1" "" "00006" "{PMID:Montani 2022:35618278}" "patient" "F" "" "France" "" "0" "" "" "" "" "00471151" "" "" "" "1" "" "00006" "{PMID:Hiraide 2018:30044643}" "patient" "F" "" "Japan" "" "0" "" "" "" "" "00471152" "" "" "" "1" "" "00006" "{PMID:Hiraide 2018:30044643}" "patient" "M" "" "Japan" "" "0" "" "" "" "" "00471153" "" "" "" "1" "" "00006" "{PMID:Zhu 2018:30029678}" "patient" "F" "" "United States" "" "0" "" "" "" "" "00471154" "" "" "" "1" "" "00006" "{PMID:Zhu 2019:31727138}" "patient" "F" "" "United States" "" "0" "" "" "" "" "00471155" "" "" "" "1" "" "00006" "{PMID:Zhu 2019:31727138}" "patient" "F" "" "United States" "" "0" "" "" "" "" "00471156" "" "" "" "1" "" "00006" "{PMID:Zhu 2018:30029678}" "patient" "M" "" "United States" "" "0" "" "" "" "" "00471157" "" "" "" "1" "" "00006" "{PMID:Montani 2022:35618278}" "patient" "F" "" "France" "" "0" "" "" "" "" "00471158" "" "" "" "1" "" "00006" "{PMID:Graf 2018:29650961}" "patient" "" "" "" "" "0" "" "" "" "" "00471159" "" "" "" "1" "" "00006" "{PMID:Zhu 2018:30029678}" "patient" "F" "" "United States" "" "0" "" "" "" "" "00471160" "" "" "" "1" "" "00006" "{PMID:Hiraide 2018:30044643}" "patient" "F" "" "Japan" "" "0" "" "" "" "" "00471161" "" "" "" "1" "" "00006" "{PMID:Zhu 2018:30029678}" "patient" "F" "" "United States" "" "0" "" "" "" "" "00471162" "" "" "" "1" "" "00006" "Wang 2019 acc. Gallego-Zazo-37895315" "patient" "" "" "" "" "0" "" "" "" "" "00471163" "" "" "" "1" "" "00006" "{PMID:Zhu 2019:31727138}" "patient" "F" "" "United States" "" "0" "" "" "" "" "00471164" "" "" "" "1" "" "00006" "{PMID:Wang 2021:33952808}" "patient" "F" "" "China" "" "0" "" "" "" "" "00471165" "" "" "" "1" "" "00006" "{PMID:Zhu 2018:30029678}" "patient" "M" "" "United States" "" "0" "" "" "" "" "00471166" "" "" "" "1" "" "00006" "{PMID:Zhu 2019:31727138}" "patient" "F" "" "United States" "" "0" "" "" "" "" "00471167" "" "" "" "1" "" "00006" "{PMID:Zhu 2018:30029678}" "patient" "F" "" "United States" "" "0" "" "" "" "" "00471168" "" "" "" "1" "" "00006" "{PMID:Zhu 2019:31727138}" "patient" "F" "" "United States" "" "0" "" "" "" "" "00471169" "" "" "" "1" "" "00006" "{PMID:Graf 2018:29650961}" "patient" "" "" "" "" "0" "" "" "" "" "00471170" "" "" "" "1" "" "00006" "{PMID:Montani 2022:35618278}" "patient" "M" "" "France" "" "0" "" "" "" "" "00471171" "" "" "" "1" "" "00006" "{PMID:Hiraide 2018:30044643}" "patient" "F" "" "Japan" "" "0" "" "" "" "" "00471172" "" "" "" "1" "" "00006" "{PMID:Graf 2018:29650961}" "patient" "" "" "" "" "0" "" "" "" "" "00471173" "" "" "" "1" "" "00006" "{PMID:Zhu 2018:30029678}" "patient" "M" "" "United States" "" "0" "" "" "" "" "00471174" "" "" "" "1" "" "00006" "Wang 2019 acc. Gallego-Zazo-37895315" "patient" "" "" "" "" "0" "" "" "" "" "00471175" "" "" "" "1" "" "00006" "{PMID:Graf 2018:29650961}" "patient" "" "" "" "" "0" "" "" "" "" "00471176" "" "" "" "1" "" "00006" "{PMID:Montani 2022:35618278}" "patient" "M" "" "France" "" "0" "" "" "" "" "00471177" "" "" "" "1" "" "00006" "{PMID:Montani 2022:35618278}" "patient" "M" "" "France" "" "0" "" "" "" "" "00471178" "" "" "" "1" "" "00006" "{PMID:Graf 2018:29650961}" "patient" "" "" "" "" "0" "" "" "" "" "00471179" "" "" "" "1" "" "00006" "{PMID:Montani 2022:35618278}" "patient" "F" "" "France" "" "0" "" "" "" "" "00471180" "" "" "" "1" "" "00006" "{PMID:Montani 2022:35618278}" "patient" "M" "" "France" "" "0" "" "" "" "" "00471181" "" "" "" "1" "" "00006" "{PMID:Montani 2022:35618278}" "patient" "F" "" "France" "" "0" "" "" "" "" "00471182" "" "" "" "1" "" "00006" "{PMID:Montani 2022:35618278}" "patient" "F" "" "France" "" "0" "" "" "" "" "00471183" "" "" "" "1" "" "00006" "{PMID:Montani 2022:35618278}" "patient" "F" "" "France" "" "0" "" "" "" "" "00471184" "" "" "" "1" "" "00006" "{PMID:Montani 2022:35618278}" "patient" "M" "" "France" "" "0" "" "" "" "" "00471185" "" "" "" "1" "" "00006" "{PMID:Zhu 2018:30029678}" "patient" "M" "" "United States" "" "0" "" "" "" "" "00471186" "" "" "" "1" "" "00006" "{PMID:Graf 2018:29650961}" "patient" "F" "" "" "" "0" "" "" "" "" "00471187" "" "" "" "1" "" "00006" "{PMID:Montani 2022:35618278}" "patient" "M" "" "France" "" "0" "" "" "" "" "00471188" "" "" "" "1" "" "00006" "{PMID:Zhu 2018:30029678}" "patient" "F" "" "United States" "" "0" "" "" "" "" "00471189" "" "" "" "1" "" "00006" "{PMID:Zhu 2018:30029678}" "patient" "F" "" "United States" "" "0" "" "" "" "" "00471190" "" "" "" "1" "" "00006" "{PMID:Zhu 2019:31727138}" "patient" "F" "" "United States" "" "0" "" "" "" "" "00471191" "" "" "" "1" "" "00006" "{PMID:Montani 2022:35618278}" "patient" "F" "" "France" "" "0" "" "" "" "" "00471192" "" "" "" "1" "" "00006" "{PMID:Zhu 2018:30029678}" "patient" "" "" "United States" "" "0" "" "" "" "" "00471193" "" "" "" "1" "" "00006" "{PMID:Montani 2022:35618278}" "patient" "F" "" "France" "" "0" "" "" "" "" "00471194" "" "" "" "1" "" "00006" "{PMID:Zhu 2018:30029678}" "patient" "M" "" "United States" "" "0" "" "" "" "" "00471195" "" "" "" "1" "" "00006" "Wang 2019 acc. Gallego-Zazo-37895315" "patient" "" "" "" "" "0" "" "" "" "" "00471196" "" "" "" "1" "" "00006" "{PMID:Montani 2022:35618278}" "patient" "M" "" "France" "" "0" "" "" "" "" "00471197" "" "" "" "1" "" "00006" "{PMID:Zhu 2018:30029678}" "patient" "M" "" "United States" "" "0" "" "" "" "" "00471198" "" "" "" "1" "" "00006" "{PMID:Zhu 2019:31727138}" "patient" "M" "" "United States" "" "0" "" "" "" "" "00471199" "" "" "" "1" "" "00006" "{PMID:Montani 2022:35618278}" "patient" "F" "" "France" "" "0" "" "" "" "" "00471200" "" "" "" "1" "" "00006" "{PMID:Graf 2018:29650961}" "patient" "" "" "" "" "0" "" "" "" "" "00471201" "" "" "" "1" "" "00006" "Wang 2019 acc. Gallego-Zazo-37895315" "patient" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 69 "{{individualid}}" "{{diseaseid}}" "00314958" "04204" "00316094" "05342" "00330866" "00152" "00471136" "06960" "00471137" "06960" "00471138" "06960" "00471139" "06960" "00471140" "06960" "00471141" "06960" "00471142" "06960" "00471143" "06960" "00471144" "06960" "00471145" "06960" "00471146" "06960" "00471147" "06960" "00471148" "06960" "00471149" "06960" "00471150" "06960" "00471151" "06960" "00471152" "06960" "00471153" "06960" "00471154" "06960" "00471155" "06960" "00471156" "06960" "00471157" "06960" "00471158" "06960" "00471159" "06960" "00471160" "06960" "00471161" "06960" "00471162" "06960" "00471163" "06960" "00471164" "06960" "00471165" "06960" "00471166" "06960" "00471167" "06960" "00471168" "06960" "00471169" "06960" "00471170" "06960" "00471171" "06960" "00471172" "06960" "00471173" "06960" "00471174" "06960" "00471175" "06960" "00471176" "06960" "00471177" "06960" "00471178" "06960" "00471179" "06960" "00471180" "06960" "00471181" "06960" "00471182" "06960" "00471183" "06960" "00471184" "06960" "00471185" "06960" "00471186" "06960" "00471187" "06960" "00471188" "06960" "00471189" "06960" "00471190" "06960" "00471191" "06960" "00471192" "06960" "00471193" "06960" "00471194" "06960" "00471195" "06960" "00471196" "06960" "00471197" "06960" "00471198" "06960" "00471199" "06960" "00471200" "06960" "00471201" "06960" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00152, 03387, 04204, 04334, 05342, 06960, 07220 ## Count = 69 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000238717" "04204" "00314958" "03465" "Familial, autosomal dominant" "" "pulmonary arterial hypertension (HP:0002092)" "" "" "" "" "" "" "" "" "pulmonary arterial hypertension/PAH" "0000239841" "05342" "00316094" "00006" "Unknown" "" "unilateral multicystic dysplasia; unilateral kidney agenesis" "" "" "" "" "" "" "" "" "unilateral kidney agenesis" "0000249434" "00152" "00330866" "03465" "Familial, autosomal dominant" "" "patent ductus arteriosus (PDA), pulmonary stenosis (PS), and atrial septal defect (ASD)." "" "" "" "" "" "" "" "" "congenital heart disease (CHD)" "0000355970" "06960" "00471136" "04931" "Unknown" "11m" "choledochal cyst, patent foramen ovale, small patent ductus arteriosus" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension" "0000355971" "06960" "00471137" "04931" "Unknown" "6y" "patent foramen ovale, positive antinuclear antibodies)" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension" "0000355972" "06960" "00471138" "04931" "Unknown" "3m" "left isomerism, inferior vena cava draining through hemiazygos vein to coronary sinus, right atrium atrial septal defect" "" "" "" "" "" "" "" "PPH7" "pulmonary arterial hypertension, congenital heart defects" "0000355973" "06960" "00471139" "04931" "Unknown" "34y" "juvenile rheumatoid arthritis, T-cell large granular lymphocyte leukemia, hypothyroidism" "" "" "" "" "" "" "" "" "pulmonary arterial hypertension, connective tissue disease" "0000355974" "06960" "00471140" "04931" "Unknown" "2y" "big atrial septal defect, patent ductus arteriosus in Eisenmenger, autism" "" "" "" "" "" "" "" "PPH7" "pulmonary arterial hypertension, congenital heart defects" "0000355975" "06960" "00471141" "04931" "Unknown" "54y" "67y-severeleft ventricle systolic dysfunction, atrial tachycardia" "" "" "" "" "" "" "" "PPH7" "idiopathic pulmonary arterial hypertension" "0000355976" "06960" "00471142" "04931" "Unknown" "11y" "patent foramen ovale, hypercoagulability, obstructive sleep apnea" "" "" "" "" "" "" "" "PPH7" "idiopathic pulmonary arterial hypertension" "0000355977" "06960" "00471143" "00006" "Unknown" "" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000355978" "06960" "00471144" "00006" "Unknown" "" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000355979" "06960" "00471145" "00006" "Unknown" "66y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000355980" "06960" "00471146" "00006" "Unknown" "30y" "pulmonary arterial hypertension, congenital heart disease" "" "" "" "" "" "" "" "PPH7" "pulmonary arterial hypertension, congenital heart disease" "0000355981" "06960" "00471147" "00006" "Unknown" "19y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "PPH7" "idiopathic pulmonary arterial hypertension, heritable" "0000355982" "06960" "00471148" "00006" "Unknown" "" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000355983" "06960" "00471149" "00006" "Unknown" "12y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000355984" "06960" "00471150" "00006" "Unknown" "35y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000355985" "06960" "00471151" "00006" "Unknown" "51y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000355986" "06960" "00471152" "00006" "Unknown" "25y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000355987" "06960" "00471153" "00006" "Unknown" "3y" "pulmonary arterial hypertension, congenital heart disease" "" "" "" "" "" "" "" "" "pulmonary arterial hypertension, congenital heart disease" "0000355988" "06960" "00471154" "00006" "Unknown" "3y" "pulmonary arterial hypertension, congenital heart disease" "" "" "" "" "" "" "" "" "pulmonary arterial hypertension, congenital heart disease" "0000355989" "06960" "00471155" "00006" "Unknown" "57y" "pulmonary arterial hypertension, portopulmonar" "" "" "" "" "" "" "" "" "pulmonary arterial hypertension, portopulmonar" "0000355990" "06960" "00471156" "00006" "Unknown" "1y" "pulmonary arterial hypertension, congenital heart disease" "" "" "" "" "" "" "" "" "pulmonary arterial hypertension, congenital heart disease" "0000355991" "06960" "00471157" "00006" "Unknown" "21y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000355992" "06960" "00471158" "00006" "Unknown" "" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "PPH7" "idiopathic pulmonary arterial hypertension, heritable" "0000355993" "06960" "00471159" "00006" "Unknown" "32y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000355994" "06960" "00471160" "00006" "Unknown" "2y" "pulmonary arterial hypertension, congenital heart disease" "" "" "" "" "" "" "" "" "pulmonary arterial hypertension, congenital heart disease" "0000355995" "06960" "00471161" "00006" "Unknown" "14y" "pulmonary arterial hypertension, congenital heart disease" "" "" "" "" "" "" "" "PPH7" "pulmonary arterial hypertension, congenital heart disease" "0000355996" "06960" "00471162" "00006" "Unknown" "" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000355997" "06960" "00471163" "00006" "Unknown" "7y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "PPH7" "idiopathic pulmonary arterial hypertension, heritable" "0000355998" "06960" "00471164" "00006" "Unknown" "7y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "PPH7" "idiopathic pulmonary arterial hypertension, heritable" "0000355999" "06960" "00471165" "00006" "Unknown" "34y" "pulmonary arterial hypertension, congenital heart disease" "" "" "" "" "" "" "" "PPH7" "pulmonary arterial hypertension, congenital heart disease" "0000356000" "06960" "00471166" "00006" "Unknown" "31y" "pulmonary arterial hypertension, congenital heart disease" "" "" "" "" "" "" "" "" "pulmonary arterial hypertension, congenital heart disease" "0000356001" "06960" "00471167" "00006" "Unknown" "38y" "pulmonary arterial hypertension, congenital heart disease" "" "" "" "" "" "" "" "" "pulmonary arterial hypertension, congenital heart disease" "0000356002" "06960" "00471168" "00006" "Unknown" "40y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000356003" "06960" "00471169" "00006" "Unknown" "16y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000356004" "06960" "00471170" "00006" "Unknown" "" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000356005" "06960" "00471171" "00006" "Unknown" "33y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000356006" "06960" "00471172" "00006" "Unknown" "" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000356007" "06960" "00471173" "00006" "Unknown" "5y" "pulmonary arterial hypertension, congenital heart disease" "" "" "" "" "" "" "" "" "pulmonary arterial hypertension, congenital heart disease" "0000356008" "06960" "00471174" "00006" "Unknown" "" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000356009" "06960" "00471175" "00006" "Unknown" "" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "PPH7" "idiopathic pulmonary arterial hypertension, heritable" "0000356010" "06960" "00471176" "00006" "Unknown" "8y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000356011" "06960" "00471177" "00006" "Unknown" "2y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000356012" "06960" "00471178" "00006" "Unknown" "" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000356013" "06960" "00471179" "00006" "Unknown" "18y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000356014" "06960" "00471180" "00006" "Unknown" "26y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000356015" "06960" "00471181" "00006" "Unknown" "13y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000356016" "06960" "00471182" "00006" "Unknown" "10y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000356017" "06960" "00471183" "00006" "Unknown" "13y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000356018" "06960" "00471184" "00006" "Unknown" "53y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension, heritable" "0000356019" "06960" "00471185" "00006" "Unknown" "7m" "pulmonary arterial hypertension, congenital heart disease" "" "" "" "" "" "" "" "PPH7" "pulmonary arterial hypertension, congenital heart disease" "0000356020" "06960" "00471186" "00006" "Unknown" "2y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "PPH7" "idiopathic pulmonary arterial hypertension, heritable" "0000356021" "06960" "00471187" "00006" "Unknown" "32y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "PPH7" "idiopathic pulmonary arterial hypertension, heritable" "0000356022" "06960" "00471188" "00006" "Unknown" "3y" "pulmonary arterial hypertension, congenital heart disease" "" "" "" "" "" "" "" "PPH7" "pulmonary arterial hypertension, congenital heart disease" "0000356023" "06960" "00471189" "00006" "Unknown" "5y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "PPH7" "idiopathic pulmonary arterial hypertension, heritable" "0000356024" "06960" "00471190" "00006" "Unknown" "5y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "PPH7" "idiopathic pulmonary arterial hypertension, heritable" "0000356025" "06960" "00471191" "00006" "Unknown" "6y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "PPH7" "idiopathic pulmonary arterial hypertension, heritable" "0000356026" "06960" "00471192" "00006" "Unknown" "" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "PPH7" "idiopathic pulmonary arterial hypertension, heritable" "0000356027" "06960" "00471193" "00006" "Unknown" "24y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "PPH7" "idiopathic pulmonary arterial hypertension, heritable" "0000356028" "06960" "00471194" "00006" "Unknown" "9y" "pulmonary arterial hypertension, congenital heart disease" "" "" "" "" "" "" "" "PPH7" "pulmonary arterial hypertension, congenital heart disease" "0000356029" "06960" "00471195" "00006" "Unknown" "" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "PPH7" "idiopathic pulmonary arterial hypertension, heritable" "0000356030" "06960" "00471196" "00006" "Unknown" "27y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "PPH7" "idiopathic pulmonary arterial hypertension, heritable" "0000356031" "06960" "00471197" "00006" "Unknown" "3y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "PPH7" "idiopathic pulmonary arterial hypertension, heritable" "0000356032" "06960" "00471198" "00006" "Unknown" "31y" "pulmonary arterial hypertension, drug and toxins exposure" "" "" "" "" "" "" "" "PPH7" "pulmonary arterial hypertension, drug and toxins exposure" "0000356033" "06960" "00471199" "00006" "Unknown" "3y" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "PPH7" "idiopathic pulmonary arterial hypertension, heritable" "0000356034" "06960" "00471200" "00006" "Unknown" "" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "PPH7" "idiopathic pulmonary arterial hypertension, heritable" "0000356035" "06960" "00471201" "00006" "Unknown" "" "idiopathic pulmonary arterial hypertension, heritable" "" "" "" "" "" "" "" "PPH7" "idiopathic pulmonary arterial hypertension, heritable" ## Screenings ## Do not remove or alter this header ## ## Count = 69 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000316134" "00314958" "1" "03465" "03465" "2020-10-23 11:40:14" "" "" "SEQ-NG-I" "DNA" "" "" "0000317276" "00316094" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000332461" "00330866" "1" "03465" "03465" "2021-02-11 01:56:38" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing, SOX17" "0000472806" "00471136" "1" "04931" "00006" "2025-12-16 17:17:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472807" "00471137" "1" "04931" "00006" "2025-12-16 17:17:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472808" "00471138" "1" "04931" "00006" "2025-12-16 17:17:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472809" "00471139" "1" "04931" "00006" "2025-12-16 17:17:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472810" "00471140" "1" "04931" "00006" "2025-12-16 17:17:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472811" "00471141" "1" "04931" "00006" "2025-12-16 17:17:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472812" "00471142" "1" "04931" "00006" "2025-12-16 17:17:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472813" "00471143" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472814" "00471144" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472815" "00471145" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472816" "00471146" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472817" "00471147" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472818" "00471148" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472819" "00471149" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472820" "00471150" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472821" "00471151" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472822" "00471152" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472823" "00471153" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472824" "00471154" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472825" "00471155" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472826" "00471156" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472827" "00471157" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472828" "00471158" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472829" "00471159" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472830" "00471160" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472831" "00471161" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472832" "00471162" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472833" "00471163" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472834" "00471164" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472835" "00471165" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472836" "00471166" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472837" "00471167" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472838" "00471168" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472839" "00471169" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472840" "00471170" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472841" "00471171" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472842" "00471172" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472843" "00471173" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472844" "00471174" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472845" "00471175" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472846" "00471176" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472847" "00471177" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472848" "00471178" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472849" "00471179" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472850" "00471180" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472851" "00471181" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472852" "00471182" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472853" "00471183" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ" "DNA" "" "" "0000472854" "00471184" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ" "DNA" "" "" "0000472855" "00471185" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ" "DNA" "" "" "0000472856" "00471186" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ" "DNA" "" "" "0000472857" "00471187" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ" "DNA" "" "" "0000472858" "00471188" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ" "DNA" "" "" "0000472859" "00471189" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ" "DNA" "" "" "0000472860" "00471190" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ" "DNA" "" "" "0000472861" "00471191" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ" "DNA" "" "" "0000472862" "00471192" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ" "DNA" "" "" "0000472863" "00471193" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ" "DNA" "" "" "0000472864" "00471194" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ" "DNA" "" "" "0000472865" "00471195" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ" "DNA" "" "" "0000472866" "00471196" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ" "DNA" "" "" "0000472867" "00471197" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ" "DNA" "" "" "0000472868" "00471198" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ" "DNA" "" "" "0000472869" "00471199" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ" "DNA" "" "" "0000472870" "00471200" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ" "DNA" "" "" "0000472871" "00471201" "1" "00006" "00006" "2025-12-16 19:19:54" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000316134" "SOX17" "0000317276" "BICC1" "0000317276" "DSTYK" "0000317276" "SOX17" "0000332461" "SOX17" ## 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 = 91 "{{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}}" "0000308726" "0" "50" "8" "55371722" "55371722" "subst" "0" "01943" "SOX17_000001" "g.55371722C>T" "" "" "" "SOX17(NM_022454.3):c.412C>T (p.R138W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54459162C>T" "" "VUS" "" "0000534956" "0" "30" "8" "55371891" "55371891" "subst" "0.000310987" "01804" "SOX17_000003" "g.55371891T>C" "" "" "" "SOX17(NM_022454.3):c.581T>C (p.(Leu194Pro)), SOX17(NM_022454.4):c.581T>C (p.L194P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54459331T>C" "" "likely benign" "" "0000611638" "0" "30" "8" "55372287" "55372292" "dup" "0" "01804" "SOX17_000007" "g.55372287_55372292dup" "" "" "" "SOX17(NM_022454.3):c.974_975insCCACCC (p.(His325_His326insHisPro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54459727_54459732dup" "" "likely benign" "" "0000698284" "0" "90" "8" "55371689" "55371689" "subst" "0" "03465" "SOX17_000008" "g.55371689C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.54459129C>T" "" "pathogenic" "" "0000699912" "0" "70" "8" "55372085" "55372085" "subst" "0.00387022" "00006" "SOX17_000009" "g.55372085T>A" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "g.54459525T>A" "" "VUS" "" "0000722020" "0" "30" "8" "55371781" "55371781" "subst" "0.00146639" "02326" "SOX17_000011" "g.55371781C>T" "" "" "" "SOX17(NM_022454.4):c.471C>T (p.H157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722021" "0" "50" "8" "55372212" "55372212" "subst" "0" "02325" "SOX17_000012" "g.55372212G>A" "" "" "" "SOX17(NM_022454.4):c.902G>A (p.G301D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729716" "11" "90" "8" "55371863" "55371863" "subst" "0" "03465" "SOX17_000010" "g.55371863G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.54459303G>T" "" "pathogenic" "ACMG" "0000851944" "0" "30" "8" "55372177" "55372177" "subst" "9.24101E-5" "01943" "SOX17_000014" "g.55372177A>T" "" "" "" "SOX17(NM_022454.3):c.867A>T (p.P289=), SOX17(NM_022454.4):c.867A>T (p.P289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851945" "0" "30" "8" "55372177" "55372177" "subst" "9.24101E-5" "02326" "SOX17_000014" "g.55372177A>T" "" "" "" "SOX17(NM_022454.3):c.867A>T (p.P289=), SOX17(NM_022454.4):c.867A>T (p.P289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861238" "0" "50" "8" "55372034" "55372034" "subst" "8.70777E-6" "02325" "SOX17_000013" "g.55372034C>T" "" "" "" "SOX17(NM_022454.4):c.724C>T (p.P242S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888376" "0" "10" "8" "55370796" "55370796" "subst" "0.00364537" "02326" "SOX17_000015" "g.55370796C>A" "" "" "" "SOX17(NM_022454.4):c.98C>A (p.A33D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888377" "0" "30" "8" "55371891" "55371891" "subst" "0.000310987" "02326" "SOX17_000003" "g.55371891T>C" "" "" "" "SOX17(NM_022454.3):c.581T>C (p.(Leu194Pro)), SOX17(NM_022454.4):c.581T>C (p.L194P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912966" "0" "30" "8" "55372085" "55372085" "subst" "0.00387022" "02326" "SOX17_000009" "g.55372085T>A" "" "" "" "SOX17(NM_022454.4):c.775T>A (p.Y259N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929458" "0" "30" "8" "55370796" "55370796" "subst" "0.00364537" "02325" "SOX17_000015" "g.55370796C>A" "" "" "" "SOX17(NM_022454.4):c.98C>A (p.A33D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949084" "0" "50" "8" "55372276" "55372287" "del" "0" "02325" "SOX17_000016" "g.55372276_55372287del" "" "" "" "SOX17(NM_022454.4):c.966_977delGCACCAGCACCA (p.Q322_H325del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978226" "0" "50" "8" "55372155" "55372155" "subst" "2.28147E-5" "02325" "SOX17_000017" "g.55372155C>G" "" "" "" "SOX17(NM_022454.4):c.845C>G (p.S282W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978227" "0" "50" "8" "55372388" "55372388" "subst" "0" "01804" "SOX17_000018" "g.55372388C>T" "" "" "" "SOX17(NM_022454.4):c.1078C>T (p.(Arg360Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997206" "0" "50" "8" "55371654" "55371654" "subst" "0" "02325" "SOX17_000019" "g.55371654G>C" "" "" "" "SOX17(NM_022454.4):c.344G>C (p.R115P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997207" "0" "50" "8" "55371842" "55371842" "subst" "5.10715E-5" "01804" "SOX17_000020" "g.55371842G>T" "" "" "" "SOX17(NM_022454.3):c.532G>T (p.(Gly178Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997208" "0" "30" "8" "55372282" "55372287" "dup" "0" "01804" "SOX17_000021" "g.55372282_55372287dup" "" "" "" "SOX17(NM_022454.3):c.972_977dupGCACCA (p.(Gln324_His325dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036988" "0" "90" "8" "55371809" "55371830" "del" "0" "02325" "SOX17_000022" "g.55371809_55371830del" "" "" "" "SOX17(NM_022454.4):c.499_520delCTGGGCCCCGAGGGCGGCCGCG (p.L167Wfs*213)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001053011" "0" "50" "8" "55370835" "55370835" "subst" "4.47604E-6" "01804" "SOX17_000023" "g.55370835G>A" "" "" "" "SOX17(NM_022454.4):c.137G>A (p.(Gly46Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001061541" "0" "50" "8" "55370907" "55370907" "subst" "0" "04931" "SOX17_000029" "g.55370907G>T" "" "{PMID:Gallego-Zazo 2023:37895315}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54458347G>T" "" "VUS" "" "0001061542" "0" "50" "8" "55370916" "55370916" "subst" "0" "04931" "SOX17_000031" "g.55370916A>C" "" "{PMID:Gallego-Zazo 2023:37895315}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54458356A>C" "" "VUS" "" "0001061543" "0" "70" "8" "55370942" "55370942" "subst" "0" "04931" "SOX17_000033" "g.55370942G>T" "" "{PMID:Gallego-Zazo 2023:37895315}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54458382G>T" "" "likely pathogenic (recessive)" "" "0001061544" "0" "10" "8" "55371799" "55371799" "subst" "0" "04931" "SOX17_000056" "g.55371799G>C" "" "{PMID:Gallego-Zazo 2023:37895315}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459239G>C" "" "benign" "" "0001061545" "0" "90" "8" "55371809" "55371830" "del" "0" "04931" "SOX17_000022" "g.55371809_55371830del" "" "{PMID:Gallego-Zazo 2023:37895315}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459249_54459270del" "" "pathogenic (recessive)" "" "0001061546" "0" "90" "8" "55371809" "55371830" "del" "0" "04931" "SOX17_000022" "g.55371809_55371830del" "" "{PMID:Gallego-Zazo 2023:37895315}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459249_54459270del" "" "pathogenic (recessive)" "" "0001061547" "0" "70" "8" "55372098" "55372098" "dup" "0" "04931" "SOX17_000061" "g.55372098dup" "" "{PMID:Gallego-Zazo 2023:37895315}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459538dup" "" "likely pathogenic (recessive)" "" "0001061548" "0" "30" "8" "55372392" "55372392" "subst" "0" "00006" "SOX17_000065" "g.55372392C>A" "" "{PMID:Graf 2018:29650961}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459832C>A" "" "likely benign" "ACMG" "0001061549" "0" "30" "8" "55372446" "55372446" "subst" "8.1275E-6" "00006" "SOX17_000066" "g.55372446A>T" "" "{PMID:Graf 2018:29650961}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459886A>T" "" "likely benign" "ACMG" "0001061550" "0" "50" "8" "55372500" "55372500" "subst" "4.06382E-6" "00006" "SOX17_000067" "g.55372500C>T" "" "{PMID:Zhu 2019:31727138}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459940C>T" "" "VUS" "ACMG" "0001061551" "0" "70" "8" "55372513" "55372513" "del" "0" "00006" "SOX17_000068" "g.55372513del" "" "{PMID:Zhu 2018:30029678}" "" "1203delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459953del" "" "likely pathogenic" "ACMG" "0001061552" "0" "70" "8" "55372534" "55372534" "del" "0" "00006" "SOX17_000069" "g.55372534del" "" "{PMID:Zhu 2019:31727138}" "" "1224delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459974del" "" "likely pathogenic" "ACMG" "0001061553" "0" "30" "8" "55370862" "55370862" "subst" "4.35627E-6" "00006" "SOX17_000026" "g.55370862C>T" "" "{PMID:Montani 2022:35618278}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54458302C>T" "" "likely benign" "ACMG" "0001061554" "0" "50" "8" "55370897" "55370897" "subst" "0" "00006" "SOX17_000027" "g.55370897C>G" "" "{PMID:Montani 2022:35618278}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54458337C>G" "" "VUS" "ACMG" "0001061555" "0" "50" "8" "55370906" "55370906" "subst" "0" "00006" "SOX17_000028" "g.55370906C>T" "" "{PMID:Montani 2022:35618278}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54458346C>T" "" "VUS" "ACMG" "0001061556" "0" "50" "8" "55370907" "55370907" "subst" "0" "00006" "SOX17_000030" "g.55370907G>A" "" "{PMID:Hiraide 2018:30044643}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54458347G>A" "" "VUS" "ACMG" "0001061557" "0" "50" "8" "55370907" "55370907" "subst" "0" "00006" "SOX17_000030" "g.55370907G>A" "" "{PMID:Hiraide 2018:30044643}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54458347G>A" "" "VUS" "ACMG" "0001061558" "0" "50" "8" "55370924" "55370924" "subst" "0" "00006" "SOX17_000032" "g.55370924A>G" "" "{PMID:Zhu 2018:30029678}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54458364A>G" "" "VUS" "ACMG" "0001061559" "0" "50" "8" "55370924" "55370924" "subst" "0" "00006" "SOX17_000032" "g.55370924A>G" "" "{PMID:Zhu 2019:31727138}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54458364A>G" "" "VUS" "ACMG" "0001061560" "0" "50" "8" "55370975" "55370975" "subst" "0" "00006" "SOX17_000034" "g.55370975C>A" "" "{PMID:Zhu 2019:31727138}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54458415C>A" "" "VUS" "ACMG" "0001061561" "0" "50" "8" "55370982" "55370982" "subst" "0" "00006" "SOX17_000035" "g.55370982A>G" "" "{PMID:Zhu 2018:30029678}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54458422A>G" "" "VUS" "ACMG" "0001061562" "0" "50" "8" "55370985" "55370985" "subst" "0" "00006" "SOX17_000036" "g.55370985C>A" "" "{PMID:Montani 2022:35618278}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54458425C>A" "" "VUS" "ACMG" "0001061563" "0" "70" "8" "55371010" "55371010" "subst" "0" "00006" "SOX17_000037" "g.55371010G>C" "" "{PMID:Graf 2018:29650961}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54458450G>C" "" "likely pathogenic" "ACMG" "0001061564" "0" "50" "8" "55371627" "55371627" "subst" "0" "00006" "SOX17_000038" "g.55371627G>T" "" "{PMID:Zhu 2018:30029678}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459067G>T" "" "VUS" "ACMG" "0001061565" "0" "30" "8" "55371632" "55371632" "subst" "0" "00006" "SOX17_000039" "g.55371632G>T" "" "{PMID:Hiraide 2018:30044643}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459072G>T" "" "likely benign" "ACMG" "0001061566" "0" "70" "8" "55371655" "55371655" "del" "0" "00006" "SOX17_000040" "g.55371655del" "" "{PMID:Zhu 2018:30029678}" "" "344del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459095del" "" "likely pathogenic" "ACMG" "0001061567" "0" "50" "8" "55371671" "55371671" "subst" "0" "00006" "SOX17_000041" "g.55371671G>A" "" "Wang 2019 acc. Gallego-Zazo-37895315" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459111G>A" "" "VUS" "ACMG" "0001061568" "0" "70" "8" "55371675" "55371676" "del" "0" "00006" "SOX17_000042" "g.55371675_55371676del" "" "{PMID:Zhu 2019:31727138}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459115_54459116del" "" "likely pathogenic" "ACMG" "0001061569" "0" "90" "8" "55371689" "55371689" "subst" "0" "00006" "SOX17_000008" "g.55371689C>T" "" "{PMID:Wang 2021:33952808}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459129C>T" "" "pathogenic" "ACMG" "0001061570" "0" "70" "8" "55371698" "55371698" "subst" "0" "00006" "SOX17_000043" "g.55371698C>T" "" "{PMID:Zhu 2018:30029678}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459138C>T" "" "likely pathogenic" "ACMG" "0001061571" "0" "50" "8" "55371702" "55371702" "subst" "0" "00006" "SOX17_000044" "g.55371702A>G" "" "{PMID:Zhu 2019:31727138}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459142A>G" "" "VUS" "ACMG" "0001061572" "0" "50" "8" "55371702" "55371702" "subst" "0" "00006" "SOX17_000044" "g.55371702A>G" "" "{PMID:Zhu 2018:30029678}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459142A>G" "" "VUS" "ACMG" "0001061573" "0" "50" "8" "55371702" "55371702" "subst" "0" "00006" "SOX17_000044" "g.55371702A>G" "" "{PMID:Zhu 2019:31727138}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459142A>G" "" "VUS" "ACMG" "0001061574" "0" "50" "8" "55371704" "55371704" "subst" "0" "00006" "SOX17_000045" "g.55371704C>G" "" "{PMID:Graf 2018:29650961}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459144C>G" "" "VUS" "ACMG" "0001061575" "0" "50" "8" "55371704" "55371704" "subst" "0" "00006" "SOX17_000045" "g.55371704C>G" "" "{PMID:Montani 2022:35618278}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459144C>G" "" "VUS" "ACMG" "0001061576" "0" "50" "8" "55371707" "55371707" "subst" "0" "00006" "SOX17_000046" "g.55371707C>G" "" "{PMID:Hiraide 2018:30044643}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459147C>G" "" "VUS" "ACMG" "0001061577" "0" "50" "8" "55371707" "55371707" "subst" "0" "00006" "SOX17_000047" "g.55371707C>T" "" "{PMID:Graf 2018:29650961}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459147C>T" "" "VUS" "ACMG" "0001061578" "0" "50" "8" "55371708" "55371708" "subst" "0" "00006" "SOX17_000048" "g.55371708C>T" "" "{PMID:Zhu 2018:30029678}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459148C>T" "" "VUS" "ACMG" "0001061579" "0" "50" "8" "55371718" "55371718" "subst" "0" "00006" "SOX17_000049" "g.55371718G>C" "" "Wang 2019 acc. Gallego-Zazo-37895315" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459158G>C" "" "VUS" "ACMG" "0001061580" "0" "90" "8" "55371721" "55371721" "subst" "0" "00006" "SOX17_000050" "g.55371721C>G" "" "{PMID:Graf 2018:29650961}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459161C>G" "" "pathogenic" "ACMG" "0001061581" "0" "50" "8" "55371723" "55371723" "subst" "0" "00006" "SOX17_000051" "g.55371723G>C" "" "{PMID:Montani 2022:35618278}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459163G>C" "" "VUS" "ACMG" "0001061582" "0" "50" "8" "55371723" "55371723" "subst" "0" "00006" "SOX17_000051" "g.55371723G>C" "" "{PMID:Montani 2022:35618278}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459163G>C" "" "VUS" "ACMG" "0001061583" "0" "50" "8" "55371729" "55371729" "subst" "0" "00006" "SOX17_000052" "g.55371729G>C" "" "{PMID:Graf 2018:29650961}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459169G>C" "" "VUS" "ACMG" "0001061584" "0" "50" "8" "55371729" "55371729" "subst" "0" "00006" "SOX17_000052" "g.55371729G>C" "" "{PMID:Montani 2022:35618278}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459169G>C" "" "VUS" "ACMG" "0001061585" "0" "50" "8" "55371732" "55371732" "subst" "0" "00006" "SOX17_000053" "g.55371732G>A" "" "{PMID:Montani 2022:35618278}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459172G>A" "" "VUS" "ACMG" "0001061586" "0" "50" "8" "55371732" "55371732" "subst" "0" "00006" "SOX17_000053" "g.55371732G>A" "" "{PMID:Montani 2022:35618278}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459172G>A" "" "VUS" "ACMG" "0001061587" "0" "50" "8" "55371732" "55371732" "subst" "0" "00006" "SOX17_000054" "g.55371732G>T" "" "{PMID:Montani 2022:35618278}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459172G>T" "" "VUS" "ACMG" "0001061588" "0" "50" "8" "55371750" "55371750" "subst" "0" "00006" "SOX17_000055" "g.55371750G>A" "" "{PMID:Montani 2022:35618278}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459190G>A" "" "VUS" "ACMG" "0001061589" "0" "50" "8" "55370742" "55370742" "subst" "5.135E-6" "00006" "SOX17_000024" "g.55370742A>C" "" "{PMID:Montani 2022:35618278}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54458182A>C" "" "VUS" "ACMG" "0001061590" "0" "90" "8" "55371809" "55371830" "del" "0" "00006" "SOX17_000022" "g.55371809_55371830del" "" "{PMID:Zhu 2018:30029678}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459249_54459270del" "" "pathogenic" "ACMG" "0001061591" "0" "90" "8" "55371809" "55371830" "del" "0" "00006" "SOX17_000022" "g.55371809_55371830del" "" "{PMID:Graf 2018:29650961}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459249_54459270del" "" "pathogenic" "ACMG" "0001061592" "0" "90" "8" "55371809" "55371830" "del" "0" "00006" "SOX17_000022" "g.55371809_55371830del" "" "{PMID:Montani 2022:35618278}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459249_54459270del" "" "pathogenic" "ACMG" "0001061593" "0" "90" "8" "55371809" "55371830" "del" "0" "00006" "SOX17_000022" "g.55371809_55371830del" "" "{PMID:Zhu 2018:30029678}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459249_54459270del" "" "pathogenic" "ACMG" "0001061594" "0" "90" "8" "55371809" "55371830" "del" "0" "00006" "SOX17_000022" "g.55371809_55371830del" "" "{PMID:Zhu 2018:30029678}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459249_54459270del" "" "pathogenic" "ACMG" "0001061595" "0" "90" "8" "55371809" "55371830" "del" "0" "00006" "SOX17_000022" "g.55371809_55371830del" "" "{PMID:Zhu 2019:31727138}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459249_54459270del" "" "pathogenic" "ACMG" "0001061596" "0" "90" "8" "55371809" "55371830" "del" "0" "00006" "SOX17_000022" "g.55371809_55371830del" "" "{PMID:Montani 2022:35618278}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459249_54459270del" "" "pathogenic" "ACMG" "0001061597" "0" "90" "8" "55371809" "55371830" "del" "0" "00006" "SOX17_000022" "g.55371809_55371830del" "" "{PMID:Zhu 2018:30029678}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459249_54459270del" "" "pathogenic" "ACMG" "0001061598" "0" "30" "8" "55371920" "55371920" "subst" "0" "00006" "SOX17_000057" "g.55371920C>T" "" "{PMID:Montani 2022:35618278}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459360C>T" "" "likely benign" "ACMG" "0001061599" "0" "50" "8" "55371974" "55371974" "subst" "0" "00006" "SOX17_000058" "g.55371974C>A" "" "{PMID:Zhu 2018:30029678}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459414C>A" "" "VUS" "ACMG" "0001061600" "0" "70" "8" "55372006" "55372006" "del" "0" "00006" "SOX17_000059" "g.55372006del" "" "Wang 2019 acc. Gallego-Zazo-37895315" "" "693delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459446del" "" "likely pathogenic" "ACMG" "0001061601" "0" "30" "8" "55372028" "55372028" "subst" "0" "00006" "SOX17_000060" "g.55372028C>G" "" "{PMID:Montani 2022:35618278}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459468C>G" "" "likely benign" "ACMG" "0001061602" "0" "70" "8" "55370773" "55370777" "del" "0" "00006" "SOX17_000025" "g.55370773_55370777del" "" "{PMID:Zhu 2018:30029678}" "" "72_76del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54458213_54458217del" "" "likely pathogenic" "ACMG" "0001061603" "0" "70" "8" "55372098" "55372098" "del" "0" "00006" "SOX17_000062" "g.55372098del" "" "{PMID:Zhu 2019:31727138}" "" "788delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459538del" "" "likely pathogenic" "ACMG" "0001061604" "0" "70" "8" "55372098" "55372098" "dup" "0" "00006" "SOX17_000061" "g.55372098dup" "" "{PMID:Montani 2022:35618278}" "" "788dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459538dup" "" "likely pathogenic" "ACMG" "0001061605" "0" "70" "8" "55372127" "55372127" "dup" "0" "00006" "SOX17_000063" "g.55372127dup" "" "{PMID:Graf 2018:29650961}" "" "817dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459567dup" "" "likely pathogenic" "ACMG" "0001061606" "0" "70" "8" "55372128" "55372128" "dup" "0" "00006" "SOX17_000064" "g.55372128dup" "" "Wang 2019 acc. Gallego-Zazo-37895315" "" "818dupG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54459568dup" "" "likely pathogenic" "ACMG" "0001064926" "0" "50" "8" "55371990" "55371990" "subst" "0" "02325" "SOX17_000070" "g.55371990T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064927" "0" "30" "8" "55371994" "55371994" "subst" "9.251E-5" "02325" "SOX17_000071" "g.55371994C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SOX17 ## Count = 91 "{{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}}" "0000308726" "00020051" "50" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138Trp)" "" "0000534956" "00020051" "30" "581" "0" "581" "0" "c.581T>C" "r.(?)" "p.(Leu194Pro)" "" "0000611638" "00020051" "30" "977" "0" "982" "0" "c.977_982dup" "r.(?)" "p.(His326_Pro327dup)" "" "0000698284" "00020051" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Gln127*)" "" "0000699912" "00020051" "70" "775" "0" "775" "0" "c.775T>A" "r.(?)" "p.(Tyr259Asn)" "" "0000722020" "00020051" "30" "471" "0" "471" "0" "c.471C>T" "r.(?)" "p.(His157=)" "" "0000722021" "00020051" "50" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Gly301Asp)" "" "0000729716" "00020051" "90" "553" "0" "553" "0" "c.553G>T" "r.(553g>u)" "p.(Glu185*)" "" "0000851944" "00020051" "30" "867" "0" "867" "0" "c.867A>T" "r.(?)" "p.(Pro289=)" "" "0000851945" "00020051" "30" "867" "0" "867" "0" "c.867A>T" "r.(?)" "p.(Pro289=)" "" "0000861238" "00020051" "50" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Pro242Ser)" "" "0000888376" "00020051" "10" "98" "0" "98" "0" "c.98C>A" "r.(?)" "p.(Ala33Asp)" "" "0000888377" "00020051" "30" "581" "0" "581" "0" "c.581T>C" "r.(?)" "p.(Leu194Pro)" "" "0000912966" "00020051" "30" "775" "0" "775" "0" "c.775T>A" "r.(?)" "p.(Tyr259Asn)" "" "0000929458" "00020051" "30" "98" "0" "98" "0" "c.98C>A" "r.(?)" "p.(Ala33Asp)" "" "0000949084" "00020051" "50" "966" "0" "977" "0" "c.966_977del" "r.(?)" "p.(Gln322_His325del)" "" "0000978226" "00020051" "50" "845" "0" "845" "0" "c.845C>G" "r.(?)" "p.(Ser282Trp)" "" "0000978227" "00020051" "50" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Arg360Cys)" "" "0000997206" "00020051" "50" "344" "0" "344" "0" "c.344G>C" "r.(?)" "p.(Arg115Pro)" "" "0000997207" "00020051" "50" "532" "0" "532" "0" "c.532G>T" "r.(?)" "p.(Gly178Cys)" "" "0000997208" "00020051" "30" "972" "0" "977" "0" "c.972_977dup" "r.(?)" "p.(Gln324_His325dup)" "" "0001036988" "00020051" "90" "499" "0" "520" "0" "c.499_520del" "r.(?)" "p.(Leu167Trpfs*213)" "" "0001053011" "00020051" "50" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Gly46Asp)" "" "0001061541" "00020051" "50" "209" "0" "209" "0" "c.209G>T" "r.(?)" "p.(Arg70Leu)" "" "0001061542" "00020051" "50" "218" "0" "218" "0" "c.218A>C" "r.(?)" "p.(Asn73Thr)" "" "0001061543" "00020051" "70" "244" "0" "244" "0" "c.244G>T" "r.(?)" "p.(Glu82Ter)" "" "0001061544" "00020051" "10" "489" "0" "489" "0" "c.489G>C" "r.(?)" "p.(Gln163His)" "" "0001061545" "00020051" "90" "499" "0" "520" "0" "c.499_520del" "r.(?)" "p.(Leu167TrpfsTer213)" "" "0001061546" "00020051" "90" "499" "0" "520" "0" "c.499_520del" "r.(?)" "p.(Leu167TrpfsTer213)" "" "0001061547" "00020051" "70" "788" "0" "788" "0" "c.788dup" "r.(?)" "p.(Glu264GlyfsTer101)" "" "0001061548" "00020051" "30" "1082" "0" "1082" "0" "c.1082C>A" "r.(?)" "p.(Thr361Lys)" "2" "0001061549" "00020051" "30" "1136" "0" "1136" "0" "c.1136A>T" "r.(?)" "p.(Tyr379Phe)" "2" "0001061550" "00020051" "50" "1190" "0" "1190" "0" "c.1190C>T" "r.(?)" "p.(Ser397Leu)" "2" "0001061551" "00020051" "70" "1203" "0" "1203" "0" "c.1203del" "r.(?)" "p.(Asp401GlufsTer53)" "2" "0001061552" "00020051" "70" "1224" "0" "1224" "0" "c.1224del" "r.(?)" "p.(Cys409AlafsTer45)" "2" "0001061553" "00020051" "30" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Pro55Leu)" "1" "0001061554" "00020051" "50" "199" "0" "199" "0" "c.199C>G" "r.(?)" "p.(Arg67Gly)" "1" "0001061555" "00020051" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Trp)" "1" "0001061556" "00020051" "50" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Arg70Gln)" "1" "0001061557" "00020051" "50" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Arg70Gln)" "1" "0001061558" "00020051" "50" "226" "0" "226" "0" "c.226A>G" "r.(?)" "p.(Met76Val)" "1" "0001061559" "00020051" "50" "226" "0" "226" "0" "c.226A>G" "r.(?)" "p.(Met76Val)" "1" "0001061560" "00020051" "50" "277" "0" "277" "0" "c.277C>A" "r.(?)" "p.(Leu93Met)" "1" "0001061561" "00020051" "50" "284" "0" "284" "0" "c.284A>G" "r.(?)" "p.(Asn95Ser)" "1" "0001061562" "00020051" "50" "287" "0" "287" "0" "c.287C>A" "r.(?)" "p.(Ala96Asp)" "1" "0001061563" "00020051" "70" "307" "5" "307" "5" "c.307+5G>C" "r.spl?" "p.?" "1i" "0001061564" "00020051" "50" "317" "0" "317" "0" "c.317G>T" "r.(?)" "p.(Trp106Leu)" "2" "0001061565" "00020051" "30" "322" "0" "322" "0" "c.322G>T" "r.(?)" "p.(Ala108Ser)" "2" "0001061566" "00020051" "70" "345" "0" "345" "0" "c.345del" "r.(?)" "p.(Phe117SerfsTer29)" "2" "0001061567" "00020051" "50" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "2" "0001061568" "00020051" "70" "365" "0" "366" "0" "c.365_366del" "r.(?)" "p.(Glu122AlafsTer39)" "2" "0001061569" "00020051" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Gln127Ter)" "2" "0001061570" "00020051" "70" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Gln130Ter)" "2" "0001061571" "00020051" "50" "392" "0" "392" "0" "c.392A>G" "r.(?)" "p.(Asp131Gly)" "2" "0001061572" "00020051" "50" "392" "0" "392" "0" "c.392A>G" "r.(?)" "p.(Asp131Gly)" "2" "0001061573" "00020051" "50" "392" "0" "392" "0" "c.392A>G" "r.(?)" "p.(Asp131Gly)" "2" "0001061574" "00020051" "50" "394" "0" "394" "0" "c.394C>G" "r.(?)" "p.(His132Asp)" "2" "0001061575" "00020051" "50" "394" "0" "394" "0" "c.394C>G" "r.(?)" "p.(His132Asp)" "2" "0001061576" "00020051" "50" "397" "0" "397" "0" "c.397C>G" "r.(?)" "p.(Pro133Ala)" "2" "0001061577" "00020051" "50" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Pro133Ser)" "2" "0001061578" "00020051" "50" "398" "0" "398" "0" "c.398C>T" "r.(?)" "p.(Pro133Leu)" "2" "0001061579" "00020051" "50" "408" "0" "408" "0" "c.408G>C" "r.(?)" "p.(Lys136Asn)" "2" "0001061580" "00020051" "90" "411" "0" "411" "0" "c.411C>G" "r.(?)" "p.(Tyr137Ter)" "2" "0001061581" "00020051" "50" "413" "0" "413" "0" "c.413G>C" "r.(?)" "p.(Arg138Pro)" "2" "0001061582" "00020051" "50" "413" "0" "413" "0" "c.413G>C" "r.(?)" "p.(Arg138Pro)" "2" "0001061583" "00020051" "50" "419" "0" "419" "0" "c.419G>C" "r.(?)" "p.(Arg140Pro)" "2" "0001061584" "00020051" "50" "419" "0" "419" "0" "c.419G>C" "r.(?)" "p.(Arg140Pro)" "2" "0001061585" "00020051" "50" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Gln)" "2" "0001061586" "00020051" "50" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Gln)" "2" "0001061587" "00020051" "50" "422" "0" "422" "0" "c.422G>T" "r.(?)" "p.(Arg141Leu)" "2" "0001061588" "00020051" "50" "440" "0" "440" "0" "c.440G>A" "r.(?)" "p.(Arg147Gln)" "2" "0001061589" "00020051" "50" "44" "0" "44" "0" "c.44A>C" "r.(?)" "p.(Gln15Pro)" "1" "0001061590" "00020051" "90" "499" "0" "520" "0" "c.499_520del" "r.(?)" "p.(Leu167TrpfsTer213)" "2" "0001061591" "00020051" "90" "499" "0" "520" "0" "c.499_520del" "r.(?)" "p.(Leu167TrpfsTer213)" "2" "0001061592" "00020051" "90" "499" "0" "520" "0" "c.499_520del" "r.(?)" "p.(Leu167TrpfsTer213)" "2" "0001061593" "00020051" "90" "499" "0" "520" "0" "c.499_520del" "r.(?)" "p.(Leu167TrpfsTer213)" "2" "0001061594" "00020051" "90" "499" "0" "520" "0" "c.499_520del" "r.(?)" "p.(Leu167TrpfsTer213)" "2" "0001061595" "00020051" "90" "499" "0" "520" "0" "c.499_520del" "r.(?)" "p.(Leu167TrpfsTer213)" "2" "0001061596" "00020051" "90" "499" "0" "520" "0" "c.499_520del" "r.(?)" "p.(Leu167TrpfsTer213)" "2" "0001061597" "00020051" "90" "499" "0" "520" "0" "c.499_520del" "r.(?)" "p.(Leu167TrpfsTer213)" "2" "0001061598" "00020051" "30" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Arg204Cys)" "2" "0001061599" "00020051" "50" "664" "0" "664" "0" "c.664C>A" "r.(?)" "p.(Pro222Thr)" "2" "0001061600" "00020051" "70" "696" "0" "696" "0" "c.696del" "r.(?)" "p.(Asp233ThrfsTer154)" "2" "0001061601" "00020051" "30" "718" "0" "718" "0" "c.718C>G" "r.(?)" "p.(Pro240Ala)" "2" "0001061602" "00020051" "70" "75" "0" "79" "0" "c.75_79del" "r.(?)" "p.(Leu27ProfsTer52)" "1" "0001061603" "00020051" "70" "788" "0" "788" "0" "c.788del" "r.(?)" "p.(Pro263ArgfsTer124)" "2" "0001061604" "00020051" "70" "788" "0" "788" "0" "c.788dup" "r.(?)" "p.(Glu264GlyfsTer101)" "2" "0001061605" "00020051" "70" "817" "0" "817" "0" "c.817dup" "r.(?)" "p.(Arg273ProfsTer92)" "2" "0001061606" "00020051" "70" "818" "0" "818" "0" "c.818dup" "r.(?)" "p.(Leu274ThrfsTer91)" "2" "0001064926" "00020051" "50" "680" "0" "680" "0" "c.680T>C" "r.(?)" "p.(Leu227Pro)" "" "0001064927" "00020051" "30" "684" "0" "684" "0" "c.684C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 69 "{{screeningid}}" "{{variantid}}" "0000316134" "0000698284" "0000317276" "0000699912" "0000332461" "0000729716" "0000472806" "0001061541" "0000472807" "0001061542" "0000472808" "0001061543" "0000472809" "0001061544" "0000472810" "0001061545" "0000472811" "0001061546" "0000472812" "0001061547" "0000472813" "0001061548" "0000472814" "0001061549" "0000472815" "0001061550" "0000472816" "0001061551" "0000472817" "0001061552" "0000472818" "0001061553" "0000472819" "0001061554" "0000472820" "0001061555" "0000472821" "0001061556" "0000472822" "0001061557" "0000472823" "0001061558" "0000472824" "0001061559" "0000472825" "0001061560" "0000472826" "0001061561" "0000472827" "0001061562" "0000472828" "0001061563" "0000472829" "0001061564" "0000472830" "0001061565" "0000472831" "0001061566" "0000472832" "0001061567" "0000472833" "0001061568" "0000472834" "0001061569" "0000472835" "0001061570" "0000472836" "0001061571" "0000472837" "0001061572" "0000472838" "0001061573" "0000472839" "0001061574" "0000472840" "0001061575" "0000472841" "0001061576" "0000472842" "0001061577" "0000472843" "0001061578" "0000472844" "0001061579" "0000472845" "0001061580" "0000472846" "0001061581" "0000472847" "0001061582" "0000472848" "0001061583" "0000472849" "0001061584" "0000472850" "0001061585" "0000472851" "0001061586" "0000472852" "0001061587" "0000472853" "0001061588" "0000472854" "0001061589" "0000472855" "0001061590" "0000472856" "0001061591" "0000472857" "0001061592" "0000472858" "0001061593" "0000472859" "0001061594" "0000472860" "0001061595" "0000472861" "0001061596" "0000472862" "0001061597" "0000472863" "0001061598" "0000472864" "0001061599" "0000472865" "0001061600" "0000472866" "0001061601" "0000472867" "0001061602" "0000472868" "0001061603" "0000472869" "0001061604" "0000472870" "0001061605" "0000472871" "0001061606"