### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NR2F2) # 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}}" "NR2F2" "nuclear receptor subfamily 2, group F, member 2" "15" "q26" "unknown" "NG_016753.1" "UD_132048705542" "" "https://www.LOVD.nl/NR2F2" "" "1" "7976" "7026" "107773" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/NR2F2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-11-05 11:29:04" "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}}" "00023945" "NR2F2" "transcript variant 1" "002" "NM_021005.3" "" "NP_066285.1" "" "" "" "-1224" "3886" "1245" "96874111" "96883492" "00006" "2014-05-30 09:08:19" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04083" "CHTD4" "heart defects, congenital, multiple types, type 4 (CHTD-4)" "AD" "615779" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05339" "CHTD" "disease, heart, congenital (CHTD)" "" "" "" "" "" "00006" "2017-11-05 11:35:27" "" "" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NR2F2" "04083" "NR2F2" "05339" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00132767" "" "" "" "1" "" "01162" "Patients" "" "" "no" "China" "" "0" "" "" "" "Patients" "00155734" "" "" "" "1" "" "00006" "{PMID:Bashamboo 2018:29478779}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" "" "0" "" "" "Latino" "29478779-Pat1" "00155735" "" "" "" "1" "" "00006" "{PMID:Bashamboo 2018:29478779}" "" "M" "no" "Senegal" "" "0" "" "" "" "29478779-Pat2" "00155736" "" "" "" "1" "" "00006" "{PMID:Bashamboo 2018:29478779}" "" "M" "no" "Hungary" "" "0" "" "" "" "29478779-Pat3" "00316125" "" "" "" "2" "" "00006" "{PMID:Heidet 2017:28566479}" "affected patient and 1st degree relative" "" "" "France" "" "0" "" "" "" "K180" "00443816" "" "" "" "1" "" "00006" "{PMID:Imafidon 2021:34136434}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat620" "00469167" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00132767" "05339" "00155734" "00198" "00155735" "00198" "00155736" "00198" "00316125" "05342" "00443816" "00198" "00469167" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04083, 05339, 05342 ## Count = 7 "{{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}}" "0000105537" "05339" "00132767" "01162" "Familial, autosomal dominant" "" "congenital heart defect; double outlet right ventricle and ventricular septal defect" "" "" "" "" "" "" "" "" "" "" "" "0000128116" "00198" "00155734" "00006" "Isolated (sporadic)" "" "see paper; hypoplastic L heart at birth; severely dilated R ventricle with moderate RVH and mild to moderately depressed RV\r\nsystolic function; male, hyperpigmented; phallus 3 cm with no hypospadias; gonads not palpable; ultra-sound no uterus, no gonads; left congenital diaphragmatic hernia" "" "" "" "" "" "" "" "" "" "congenital heart disease" "" "0000128117" "00198" "00155735" "00006" "Isolated (sporadic)" "" "persistent ostium secundum, atrial septal defect," "" "" "" "" "" "" "" "" "" "congenital heart disease" "" "0000128118" "00198" "00155736" "00006" "Isolated (sporadic)" "" "1d-ventricular septal defect; 9y-spontaneous closure ventricular septal defect; \"ambiguous\" Prader IV, pigmented scrotum, phallus-like clitoris, R palpable gonad in the inguinal canal; R ductus-like Wolffian structures, L uterus, ovary, and Fallopian tube, vagina and short urogenital sinus; pelvic ultrasound: R testis, L ovary, histology: R gonad, testis tubules, and ovarian tissue with oocytes; mild learning disabilities, minor limb anomalies, hypertelorism, blepharophimosis ptosis epicanthus inversus syndrome" "" "" "" "" "" "" "" "" "" "congenital heart disease" "" "0000239872" "05342" "00316125" "00006" "Unknown" "" "renal hypoplasia" "" "" "" "" "" "" "" "" "" "renal hypoplasia" "" "0000333093" "00198" "00443816" "00006" "Isolated (sporadic)" "" "cardiac malformation, dysmorphic features" "" "" "" "" "" "" "" "" "CHTD4" "" "" "0000354320" "00198" "00469167" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000133602" "00132767" "1" "00006" "00006" "2017-11-05 11:40:07" "" "" "SEQ" "DNA" "" "" "0000156598" "00155734" "1" "00006" "00006" "2018-03-24 21:17:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000156599" "00155735" "1" "00006" "00006" "2018-03-24 21:21:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000156600" "00155736" "1" "00006" "00006" "2018-03-24 21:40:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317307" "00316125" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000445313" "00443816" "1" "00006" "00006" "2023-12-03 11:44:16" "" "" "arraySNP;SEQ" "DNA" "" "" "0000470835" "00469167" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000133602" "NR2F2" "0000156598" "NR2F2" "0000156599" "NR2F2" "0000156600" "NR2F2" "0000317307" "MECOM" "0000317307" "NR2F2" "0000317307" "WNT11" ## 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 = 23 "{{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}}" "0000222843" "1" "90" "15" "96875581" "96875581" "subst" "0" "01162" "NR2F2_000001" "g.96875581G>T" "" "" "" "" "novel NR2F2 variant with congenital heart defects." "Germline" "" "" "0" "" "" "g.96332352G>T" "" "pathogenic" "" "0000324329" "0" "50" "15" "96875761" "96875761" "subst" "0" "01804" "NR2F2_000007" "g.96875761G>A" "" "" "" "NR2F2(NM_021005.4):c.427G>A (p.(Gly143Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96332532G>A" "" "VUS" "" "0000359638" "0" "90" "15" "96875437" "96875443" "del" "0" "00006" "NR2F2_000002" "g.96875437_96875443del" "" "{PMID:Bashamboo 2018:29478779}" "" "103_109delGGCGCCC" "" "De novo" "" "" "0" "" "46,XX SRY-negative" "g.96332208_96332214del" "" "pathogenic" "" "0000359639" "0" "90" "15" "96875431" "96875437" "del" "0" "00006" "NR2F2_000003" "g.96875431_96875437del" "" "{PMID:Bashamboo 2018:29478779}" "" "97_103delCCGCCCG" "" "De novo" "" "" "0" "" "46,XX SRY-negative" "g.96332202_96332208del" "" "pathogenic" "" "0000359640" "0" "90" "15" "96875431" "96875437" "del" "0" "00006" "NR2F2_000003" "g.96875431_96875437del" "" "{PMID:Bashamboo 2018:29478779}" "" "97_103delCCGCCCG" "" "Germline/De novo (untested)" "" "" "0" "" "46,XX SRY-negative" "g.96332202_96332208del" "" "pathogenic" "" "0000556321" "0" "90" "15" "96875431" "96875437" "del" "0" "01943" "NR2F2_000003" "g.96875431_96875437del" "" "" "" "NR2F2(NM_021005.4):c.97_103delCCGCCCG (p.P33Afs*77)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96332202_96332208del" "" "pathogenic" "" "0000556322" "0" "90" "15" "96875437" "96875443" "del" "0" "02329" "NR2F2_000002" "g.96875437_96875443del" "" "" "" "NR2F2(NM_021005.4):c.103_109delGGCGCCC (p.G35Rfs*75)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96332208_96332214del" "" "pathogenic" "" "0000556326" "0" "30" "15" "96877678" "96877678" "subst" "0.000166907" "02327" "NR2F2_000008" "g.96877678C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96334449C>G" "" "likely benign" "" "0000615663" "0" "50" "15" "96875609" "96875609" "subst" "0" "01943" "NR2F2_000009" "g.96875609G>T" "" "" "" "NR2F2(NM_021005.4):c.275G>T (p.G92V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96332380G>T" "" "VUS" "" "0000615664" "0" "70" "15" "96880793" "96880793" "subst" "0" "02325" "NR2F2_000010" "g.96880793T>A" "" "" "" "NR2F2(NM_021005.4):c.1187T>A (p.I396N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96337564T>A" "" "likely pathogenic" "" "0000691918" "0" "30" "15" "96877841" "96877841" "subst" "0" "01943" "NR2F2_000011" "g.96877841G>A" "" "" "" "NR2F2(NM_021005.4):c.970+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699831" "0" "50" "15" "0" "0" "" "0" "00006" "IGF1R_000000" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000725398" "0" "30" "15" "96877844" "96877848" "dup" "0" "02326" "NR2F2_000012" "g.96877844_96877848dup" "" "" "" "NR2F2(NM_021005.4):c.970+11_970+15dupGCCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854256" "0" "50" "15" "96880679" "96880679" "subst" "0" "01943" "NR2F2_000013" "g.96880679C>T" "" "" "" "NR2F2(NM_021005.4):c.1073C>T (p.T358M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914434" "0" "50" "15" "96875650" "96875650" "subst" "0" "02325" "NR2F2_000014" "g.96875650A>C" "" "" "" "NR2F2(NM_021005.4):c.316A>C (p.S106R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000952227" "0" "70" "15" "96880793" "96880793" "subst" "0" "00006" "NR2F2_000010" "g.96880793T>A" "" "{PMID:Imafidon 2021:34136434}" "" "" "" "De novo" "" "" "0" "" "" "g.96337564T>A" "" "likely pathogenic (dominant)" "" "0000960090" "0" "70" "15" "96875618" "96875618" "subst" "0" "03779" "NR2F2_000015" "g.96875618C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000981540" "0" "30" "15" "96877089" "96877089" "subst" "0" "01804" "NR2F2_000016" "g.96877089A>C" "" "" "" "NR2F2(NM_001145157.2):c.-18+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981541" "0" "30" "15" "96877841" "96877841" "subst" "0" "01804" "NR2F2_000011" "g.96877841G>A" "" "" "" "NR2F2(NM_021005.4):c.970+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001828" "0" "30" "15" "96875441" "96875441" "subst" "0" "01804" "NR2F2_000006" "g.96875441C>A" "" "" "" "NR2F2(NM_021005.3):c.107C>A (p.(Ala36Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001829" "0" "50" "15" "96877743" "96877743" "subst" "0" "01804" "NR2F2_000017" "g.96877743T>A" "" "" "" "NR2F2(NM_021005.3):c.881T>A (p.(Ile294Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001830" "0" "30" "15" "96880840" "96880840" "subst" "2.44818E-5" "01804" "NR2F2_000018" "g.96880840G>T" "" "" "" "NR2F2(NM_021005.3):c.1234G>T (p.(Ala412Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001058957" "0" "70" "15" "96877550" "96877550" "subst" "0" "00006" "NR2F2_000019" "g.96877550A>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.96334321A>T" "" "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 NR2F2 ## Count = 23 "{{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}}" "0000222843" "00023945" "90" "247" "0" "247" "0" "c.247G>T" "r.(?)" "p.(Gly83*)" "1" "0000324329" "00023945" "50" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Gly143Ser)" "" "0000359638" "00023945" "90" "103" "0" "109" "0" "c.103_109del" "r.(?)" "p.(Gly35Argfs*75)" "" "0000359639" "00023945" "90" "97" "0" "103" "0" "c.97_103del" "r.(?)" "p.(Pro33Alafs*77)" "" "0000359640" "00023945" "90" "97" "0" "103" "0" "c.97_103del" "r.(?)" "p.(Pro33Alafs*77)" "" "0000556321" "00023945" "90" "97" "0" "103" "0" "c.97_103del" "r.(?)" "p.(Pro33AlafsTer77)" "" "0000556322" "00023945" "90" "103" "0" "109" "0" "c.103_109del" "r.(?)" "p.(Gly35ArgfsTer75)" "" "0000556326" "00023945" "30" "816" "0" "816" "0" "c.816C>G" "r.(?)" "p.(Ala272=)" "" "0000615663" "00023945" "50" "275" "0" "275" "0" "c.275G>T" "r.(?)" "p.(Gly92Val)" "" "0000615664" "00023945" "70" "1187" "0" "1187" "0" "c.1187T>A" "r.(?)" "p.(Ile396Asn)" "" "0000691918" "00023945" "30" "970" "9" "970" "9" "c.970+9G>A" "r.(=)" "p.(=)" "" "0000699831" "00023945" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Gly44Ser)" "" "0000725398" "00023945" "30" "970" "12" "970" "16" "c.970+12_970+16dup" "r.(=)" "p.(=)" "" "0000854256" "00023945" "50" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Thr358Met)" "" "0000914434" "00023945" "50" "316" "0" "316" "0" "c.316A>C" "r.(?)" "p.(Ser106Arg)" "" "0000952227" "00023945" "70" "1187" "0" "1187" "0" "c.1187T>A" "r.(?)" "p.(Ile396Asn)" "" "0000960090" "00023945" "70" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Thr95Met)" "" "0000981540" "00023945" "30" "443" "-216" "443" "-216" "c.443-216A>C" "r.(=)" "p.(=)" "" "0000981541" "00023945" "30" "970" "9" "970" "9" "c.970+9G>A" "r.(=)" "p.(=)" "" "0001001828" "00023945" "30" "107" "0" "107" "0" "c.107C>A" "r.(?)" "p.(Ala36Asp)" "" "0001001829" "00023945" "50" "881" "0" "881" "0" "c.881T>A" "r.(?)" "p.(Ile294Asn)" "" "0001001830" "00023945" "30" "1234" "0" "1234" "0" "c.1234G>T" "r.(?)" "p.(Ala412Ser)" "" "0001058957" "00023945" "70" "688" "0" "688" "0" "c.688A>T" "r.(?)" "p.(Ile230Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000133602" "0000222843" "0000156598" "0000359638" "0000156599" "0000359639" "0000156600" "0000359640" "0000317307" "0000699831" "0000445313" "0000952227" "0000470835" "0001058957"