### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NR4A2) # 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}}" "NR4A2" "nuclear receptor subfamily 4, group A, member 2" "2" "q22-q23" "unknown" "NC_000002.11" "UD_132085373348" "" "https://www.LOVD.nl/NR4A2" "" "1" "7981" "4929" "601828" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-09-02 11:13:47" "00006" "2025-08-26 16:11:05" ## 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}}" "00014790" "NR4A2" "nuclear receptor subfamily 4, group A, member 2" "001" "NM_006186.3" "" "NP_006177.1" "" "" "" "-422" "3109" "1797" "157189287" "157180944" "" "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}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "07098" "IDLDP" "intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism" "AD" "619911" "" "" "" "00006" "2024-09-02 11:13:22" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NR4A2" "00139" "NR4A2" "07098" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00453431" "" "" "" "1" "" "01164" "" "" "M" "no" "? (unknown)" "" "0" "" "" "" "36102" "00464314" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00453431" "00139" "00464314" "00138" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00139, 07098 ## Count = 2 "{{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}}" "0000342095" "00139" "00453431" "01164" "Isolated (sporadic)" "18y" "Macrocephaly, Intellectual disability, Seizure, Hypotonia, EEG abnormality, Language impairment, Progressive macrocephaly, Postnatal macrocephaly, Neurodevelopmental delay" "" "" "" "" "" "" "" "IDLDP" "intellectual disability" "0000350368" "00138" "00464314" "03544" "Isolated (sporadic)" "" "HP:0000717, HP:0000729, HP:0000750, HP:0001256, HP:0001268, HP:0002474, HP:0004322, HP:0007018, HP:0011446" "" "" "" "" "" "" "" "" "complex neurodevelopmental disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000455045" "00453431" "1" "01164" "01164" "2024-08-27 17:22:15" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000465936" "00464314" "1" "03544" "03544" "2025-03-01 09:31:29" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000455045" "NR4A2" ## 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 = 22 "{{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}}" "0000327397" "0" "50" "2" "157185923" "157185923" "subst" "4.21848E-6" "01804" "NR4A2_000001" "g.157185923T>C" "" "" "" "NR4A2(NM_006186.3):c.776A>G (p.(Asn259Ser)), NR4A2(NM_006186.4):c.776A>G (p.N259S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156329411T>C" "" "VUS" "" "0000327398" "0" "50" "2" "157185947" "157185947" "subst" "4.24283E-6" "01804" "NR4A2_000002" "g.157185947G>A" "" "" "" "NR4A2(NM_006186.3):c.752C>T (p.(Pro251Leu)), NR4A2(NM_006186.4):c.752C>T (p.P251L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156329435G>A" "" "VUS" "" "0000654226" "0" "70" "2" "157184915" "157184915" "subst" "0" "02327" "NR4A2_000003" "g.157184915C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156328403C>T" "" "likely pathogenic" "" "0000676050" "0" "50" "2" "157182707" "157182707" "subst" "2.43645E-5" "02325" "NR4A2_000004" "g.157182707C>T" "" "" "" "NR4A2(NM_006186.4):c.1495G>A (p.(Asp499Asn), p.D499N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676051" "0" "50" "2" "157185852" "157185852" "subst" "0" "01943" "NR4A2_000005" "g.157185852A>C" "" "" "" "NR4A2(NM_006186.3):c.847T>G (p.C283G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717900" "0" "10" "2" "157183214" "157183214" "del" "0" "02329" "NR4A2_000006" "g.157183214del" "" "" "" "NR4A2(NM_006186.4):c.1361+18delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717901" "0" "70" "2" "157186311" "157186311" "del" "0" "01943" "NR4A2_000007" "g.157186311del" "" "" "" "NR4A2(NM_006186.3):c.390delC (p.T131Pfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000799738" "0" "70" "2" "157186128" "157186128" "subst" "0" "02327" "NR4A2_000008" "g.157186128G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000883799" "0" "50" "2" "157182691" "157182691" "subst" "0" "02329" "NR4A2_000009" "g.157182691G>A" "" "" "" "NR4A2(NM_006186.4):c.1511C>T (p.S504F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883800" "0" "70" "2" "157186161" "157186161" "subst" "0" "02327" "NR4A2_000010" "g.157186161G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000974359" "0" "30" "2" "157182707" "157182707" "subst" "2.43645E-5" "01804" "NR4A2_000004" "g.157182707C>T" "" "" "" "NR4A2(NM_006186.4):c.1495G>A (p.(Asp499Asn), p.D499N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974360" "0" "50" "2" "157183242" "157183242" "subst" "1.62876E-5" "01804" "NR4A2_000011" "g.157183242C>T" "" "" "" "NR4A2(NM_006186.4):c.1349G>A (p.(Arg450Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974361" "0" "50" "2" "157183321" "157183321" "subst" "0" "01804" "NR4A2_000012" "g.157183321T>C" "" "" "" "NR4A2(NM_006186.4):c.1270A>G (p.(Ile424Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974362" "0" "50" "2" "157185923" "157185923" "subst" "4.21848E-6" "02325" "NR4A2_000001" "g.157185923T>C" "" "" "" "NR4A2(NM_006186.3):c.776A>G (p.(Asn259Ser)), NR4A2(NM_006186.4):c.776A>G (p.N259S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974363" "0" "50" "2" "157185947" "157185947" "subst" "4.24283E-6" "02325" "NR4A2_000002" "g.157185947G>A" "" "" "" "NR4A2(NM_006186.3):c.752C>T (p.(Pro251Leu)), NR4A2(NM_006186.4):c.752C>T (p.P251L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990021" "0" "70" "2" "157185860" "157185860" "subst" "0" "01164" "NR4A2_000014" "g.157185860C>T" "" "" "" "" "ACMG: PS2, PM1, PP3_MOD, PM2_SUP; PMID 32366965" "De novo" "-" "" "0" "" "" "g.156329348C>T" "VCV001693495.1" "likely pathogenic (dominant)" "ACMG" "0000991680" "0" "30" "2" "157183309" "157183309" "subst" "1.21828E-5" "01804" "NR4A2_000013" "g.157183309C>T" "" "" "" "NR4A2(NM_006186.3):c.1282G>A (p.(Ala428Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991681" "0" "30" "2" "157185944" "157185944" "subst" "3.4024E-5" "01804" "NR4A2_000015" "g.157185944G>T" "" "" "" "NR4A2(NM_006186.3):c.755C>A (p.(Pro252Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991682" "0" "30" "2" "157186410" "157186410" "subst" "0.000247702" "01804" "NR4A2_000016" "g.157186410T>C" "" "" "" "NR4A2(NM_006186.3):c.289A>G (p.(Met97Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991683" "0" "50" "2" "157186476" "157186476" "subst" "0" "01804" "NR4A2_000017" "g.157186476G>A" "" "" "" "NR4A2(NM_006186.3):c.223C>T (p.(Pro75Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029722" "0" "70" "2" "157186239" "157186239" "subst" "0" "03544" "NR4A2_000018" "g.157186239G>A" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.156329727G>A" "{CV:3912065}" "likely pathogenic" "ACMG" "0001032435" "0" "50" "2" "157185019" "157185019" "subst" "4.06055E-6" "01804" "NR4A2_000019" "g.157185019G>A" "" "" "" "NR4A2(NM_006186.4):c.891C>T (p.(Tyr297=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes NR4A2 ## Count = 22 "{{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}}" "0000327397" "00014790" "50" "776" "0" "776" "0" "c.776A>G" "r.(?)" "p.(Asn259Ser)" "" "0000327398" "00014790" "50" "752" "0" "752" "0" "c.752C>T" "r.(?)" "p.(Pro251Leu)" "" "0000654226" "00014790" "70" "994" "1" "994" "1" "c.994+1G>A" "r.spl?" "p.?" "" "0000676050" "00014790" "50" "1495" "0" "1495" "0" "c.1495G>A" "r.(?)" "p.(Asp499Asn)" "" "0000676051" "00014790" "50" "847" "0" "847" "0" "c.847T>G" "r.(?)" "p.(Cys283Gly)" "" "0000717900" "00014790" "10" "1361" "18" "1361" "18" "c.1361+18del" "r.(=)" "p.(=)" "" "0000717901" "00014790" "70" "390" "0" "390" "0" "c.390del" "r.(?)" "p.(Thr131Profs*32)" "" "0000799738" "00014790" "70" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Gln191*)" "" "0000883799" "00014790" "50" "1511" "0" "1511" "0" "c.1511C>T" "r.(?)" "p.(Ser504Phe)" "" "0000883800" "00014790" "70" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(Gln180*)" "" "0000974359" "00014790" "30" "1495" "0" "1495" "0" "c.1495G>A" "r.(?)" "p.(Asp499Asn)" "" "0000974360" "00014790" "50" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450Gln)" "" "0000974361" "00014790" "50" "1270" "0" "1270" "0" "c.1270A>G" "r.(?)" "p.(Ile424Val)" "" "0000974362" "00014790" "50" "776" "0" "776" "0" "c.776A>G" "r.(?)" "p.(Asn259Ser)" "" "0000974363" "00014790" "50" "752" "0" "752" "0" "c.752C>T" "r.(?)" "p.(Pro251Leu)" "" "0000990021" "00014790" "70" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Cys280Tyr)" "Ex3" "0000991680" "00014790" "30" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Ala428Thr)" "" "0000991681" "00014790" "30" "755" "0" "755" "0" "c.755C>A" "r.(?)" "p.(Pro252Gln)" "" "0000991682" "00014790" "30" "289" "0" "289" "0" "c.289A>G" "r.(?)" "p.(Met97Val)" "" "0000991683" "00014790" "50" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Pro75Ser)" "" "0001029722" "00014790" "70" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(Gln154*)" "3" "0001032435" "00014790" "50" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000455045" "0000990021" "0000465936" "0001029722"