### 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." "" "g" "https://databases.lovd.nl/shared/refseq/NR4A2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-09-02 11:13:47" "00006" "2026-02-25 16:30:57" ## 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 = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "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" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" "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 = 15 "{{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)" "" "" "" "" "" "" "00471346" "" "" "" "1" "" "00006" "{PMID:Singh 2020:32366965}, {PMID:Zech 2020:33098801}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat3;CB-DYS-154" "00471403" "" "" "" "1" "" "00006" "{PMID:Singh 2020:32366965}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat1" "00471404" "" "" "" "1" "" "00006" "{PMID:Singh 2020:32366965}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00471405" "" "" "" "1" "" "00006" "{PMID:Singh 2020:32366965}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat4" "00471406" "" "" "" "1" "" "00006" "{PMID:Singh 2020:32366965}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat5" "00471407" "" "" "" "1" "" "00006" "{PMID:Singh 2020:32366965}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat6" "00471408" "" "" "" "1" "" "00006" "{PMID:Singh 2020:32366965}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat7" "00471409" "" "" "" "1" "" "00006" "{PMID:Singh 2020:32366965}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat8" "00471410" "" "" "" "1" "" "00006" "{PMID:Singh 2020:32366965}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat9" "00471411" "" "" "" "1" "" "00006" "{PMID:Wirth 2020:31922365}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "Pat1" "00471412" "" "" "" "1" "" "00006" "{PMID:Wirth 2020:31922365}" "2-generation family, 1 affected, unaffected parents (deceased)" "F" "" "" "" "0" "" "" "" "Pat2" "00471413" "" "" "" "1" "" "00006" "{PMID:Ramos 2019:31428396}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Brazil" "" "0" "" "" "" "patient" "00472694" "" "" "" "1" "" "00006" "{DOI:Yepez 2026:10.64898/2026.02.10.26345954}" "patient" "F" "" "" "" "0" "" "" "" "Pat20" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00453431" "00139" "00464314" "00138" "00471346" "00108" "00471403" "05611" "00471404" "05611" "00471405" "05611" "00471406" "05611" "00471407" "05611" "00471408" "05611" "00471409" "05611" "00471410" "05611" "00471411" "00108" "00471412" "00139" "00471413" "05611" "00472694" "05618" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00108, 00138, 00139, 05611, 05618, 07098 ## Count = 15 "{{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" "0000356183" "00108" "00471346" "00006" "Isolated (sporadic)" "09y" "see paper; ..., seizures; moderate developmental delay; mild-moderate intellectual disability; MRI brain gliosis; choreoathetoid movements, ataxic gait; combined dystonia; onset infancy (0-2y); focal dystonia; dystonic cerebral palsy" "" "" "" "" "" "" "" "" "dystonia" "0000356242" "05611" "00471403" "00006" "Isolated (sporadic)" "15y" "see paper; ..., 6y6m-seizures; global developmental delay; severe intellectual disability; autism; MRI brain normal; neurologic examination normal; sleeping difficulties" "" "" "" "" "" "" "" "IDLDP" "neurodevelopmental delay" "0000356243" "05611" "00471404" "00006" "Isolated (sporadic)" "12y" "see paper; ..., 10y-seuizures; global developmental delay; speech/language impairment; motor delay; mild intellectual disability; hyperactivity, anxiety; MRI brain normal; mild hypotonia; Ehlers-Danlos syndrome hypermobility" "" "" "" "" "" "" "" "IDLDP" "neurodevelopmental delay" "0000356244" "05611" "00471405" "00006" "Isolated (sporadic)" "3y" "see paper; ..., 5m-seizures; global developmental delay; severe intellectual disability; no behavioral problems; MRI brain moderate cerebellar atrophy; severe hypotonia, feeding difficulties, dystonia" "" "" "" "" "" "" "" "IDLDP" "neurodevelopmental delay" "0000356245" "05611" "00471406" "00006" "Unknown" "5y" "see paper; ..., no seizures; global developmental delay; speech/language impairment; motor delay; mild intellectual disability; attachment disorder, hyposensitivity; mild hypotonia, no movement disorder" "" "" "" "" "" "" "" "IDLDP" "neurodevelopmental delay" "0000356246" "05611" "00471407" "00006" "Isolated (sporadic)" "2y" "see paper; ..., 6m-seizures; global developmental delay; speech/language impairment; motor delay; sensory sensitivity; MRI brain pontine hypoplasia, ventriculomegaly; severe hypotonia, feeding difficulties; facial dysmorphism, sleep disordered breathing" "" "" "" "" "" "" "" "IDLDP" "neurodevelopmental delay" "0000356247" "05611" "00471408" "00006" "Isolated (sporadic)" "4y" "see paper; ..., no seizures; global developmental delay; speech/language impairment; motor delay; moderate intellectual disability; no behavioral problems; MRI brain normal; hypotonia; mild joint hypermobility, shagreen spot, hypopigmented spot" "" "" "" "" "" "" "" "IDLDP" "neurodevelopmental delay" "0000356248" "05611" "00471409" "00006" "Isolated (sporadic)" "19y" "see paper; ..., no seizures; global developmental delay; speech/language impairment; motor delay; moderate-severe intellectual disability; no behavioral problems; MRI brain normal; mild generalized hypotonia; facial dysmorphism, joint hypermobility" "" "" "" "" "" "" "" "IDLDP" "neurodevelopmental delay" "0000356249" "05611" "00471410" "00006" "Isolated (sporadic)" "43y" "see paper; ..., 13y-seizures; moderate developmental delay; moderate-severe intellectual disability; hyperactivity, aggression; MRI brain enlarged cerebrospinal fluid spaces; progressive ataxia in adulthood" "" "" "" "" "" "" "" "IDLDP" "neurodevelopmental delay" "0000356250" "00108" "00471411" "00006" "Isolated (sporadic)" "34y" "see paper; ..., 29y-early onset dystonia parkinsonism, intellectual disability, epilepsy; 26y-general tonic-clonic seizures; developmental delay; prominent language impairmen (4y-speech)" "" "" "" "" "" "" "" "IDLDP" "dystonia" "0000356251" "00139" "00471412" "00006" "Unknown" "50y" "see paper; ..., mild intellectual disability; 30y-left-handed tremor, behavioral changes (physical inactivity, clumsiness); 40y-dystonia, bradykinesia, rigidity (prominently affecting left side body)" "" "" "" "" "" "" "" "IDLDP" "intellectual disability" "0000356252" "05611" "00471413" "00006" "Isolated (sporadic)" "05y" "see paper; ..., epilepsy, language impairment, intellectual deficiency; infancy poor feeding, gagging due regurgitation, colic; normal motor development, normal growth parameters, delayed speech development; no dysmorphic features; 5y-seizures during sleep" "" "" "" "" "" "" "" "IDLDP" "neurodevelopmental disorder" "0000357491" "05618" "00472694" "00006" "Isolated (sporadic)" "" "epileptic encephalopathy" "" "" "" "" "" "" "" "" "neuromuscular disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{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" "0000473016" "00471346" "1" "00006" "00006" "2025-12-19 18:53:19" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000473073" "00471403" "1" "00006" "00006" "2025-12-21 13:37:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473074" "00471404" "1" "00006" "00006" "2025-12-21 13:37:07" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000473075" "00471405" "1" "00006" "00006" "2025-12-21 13:37:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473076" "00471406" "1" "00006" "00006" "2025-12-21 13:37:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473077" "00471407" "1" "00006" "00006" "2025-12-21 13:37:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473078" "00471408" "1" "00006" "00006" "2025-12-21 13:37:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473079" "00471409" "1" "00006" "00006" "2025-12-21 13:37:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473080" "00471410" "1" "00006" "00006" "2025-12-21 13:37:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473081" "00471411" "1" "00006" "00006" "2025-12-21 13:45:29" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000473082" "00471412" "1" "00006" "00006" "2025-12-21 13:51:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473083" "00471413" "1" "00006" "00006" "2025-12-21 13:58:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474363" "00472694" "1" "00006" "00006" "2026-02-25 16:30:53" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "whole blood" "WGS" ## 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 = 38 "{{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" "" "0001050832" "0" "50" "2" "157185870" "157185870" "subst" "0" "01804" "NR4A2_000020" "g.157185870C>T" "" "" "" "NR4A2(NM_006186.4):c.829G>A (p.(Val277Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050833" "0" "50" "2" "157186088" "157186088" "subst" "0" "01804" "NR4A2_000021" "g.157186088G>A" "" "" "" "NR4A2(NM_006186.4):c.611C>T (p.(Pro204Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050834" "0" "30" "2" "157190974" "157190974" "subst" "0" "01804" "NR4A2_000022" "g.157190974T>C" "" "" "" "NR4A2(NM_006186.4):c.-2109A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001061760" "0" "70" "2" "157184996" "157184996" "subst" "0" "00006" "NR4A2_000029" "g.157184996C>T" "" "{PMID:Singh 2020:32366965}, {PMID:Zech 2020:33098801}" "" "" "ACMG PS2, PM1, PM2, PP3" "De novo" "" "" "0" "" "" "g.156328484C>T" "" "likely pathogenic (dominant)" "ACMG" "0001061846" "0" "70" "2" "157185860" "157185860" "subst" "0" "00006" "NR4A2_000014" "g.157185860C>T" "" "{PMID:Singh 2020:32366965}" "" "" "" "De novo" "" "" "0" "" "" "g.156329348C>T" "" "likely pathogenic (dominant)" "" "0001061847" "0" "70" "2" "157185045" "157185046" "delins" "0" "00006" "NR4A2_000030" "g.157185045_157185046delinsACTCCTTTTT" "" "{PMID:Singh 2020:32366965}" "" "865-1_865delGCinsAAAAAGGAGT" "" "De novo" "" "" "0" "" "" "g.156328533_156328534delinsACTCCTTTTT" "" "likely pathogenic (dominant)" "" "0001061848" "0" "70" "2" "157183416" "157183416" "subst" "0" "00006" "NR4A2_000027" "g.157183416T>C" "" "{PMID:Singh 2020:32366965}" "" "" "" "De novo" "" "" "0" "" "" "g.156326904T>C" "" "likely pathogenic (dominant)" "" "0001061849" "0" "70" "2" "157182477" "157182477" "subst" "0" "00006" "NR4A2_000026" "g.157182477C>A" "" "{PMID:Singh 2020:32366965}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.156325965C>A" "" "likely pathogenic (dominant)" "" "0001061850" "0" "70" "2" "157186380" "157186380" "dup" "0" "00006" "NR4A2_000032" "g.157186380dup" "" "{PMID:Singh 2020:32366965}" "" "325dupC" "" "De novo" "" "" "0" "" "" "g.156329868dup" "" "likely pathogenic (dominant)" "" "0001061851" "0" "70" "2" "157185842" "157185842" "subst" "0" "00006" "NR4A2_000031" "g.157185842A>G" "" "{PMID:Singh 2020:32366965}" "" "" "" "De novo" "" "" "0" "" "" "g.156329330A>G" "" "likely pathogenic (dominant)" "" "0001061852" "0" "70" "2" "157184942" "157184942" "subst" "0" "00006" "NR4A2_000028" "g.157184942C>A" "" "{PMID:Singh 2020:32366965}" "" "" "" "De novo" "" "" "0" "" "" "g.156328430C>A" "" "likely pathogenic (dominant)" "" "0001061853" "0" "70" "2" "154790212" "158488241" "del" "0" "00006" "NR4A2_000023" "g.(?_154790212)_(158488241_?)del" "" "{PMID:Singh 2020:32366965}" "" "" "3.6Mb deletion incl. KCNJ3, GPD2, GALNT5, ERMN, CYTIP, ACVR1C, ACVR1, UPP2, CCDC148, PKP4" "De novo" "" "" "0" "" "arr[GRCh37]2q23.3q24.1(154790212_158488241)x1" "g.(?_153933700)_(157631729_?)del" "" "likely pathogenic (dominant)" "" "0001061854" "0" "90" "2" "157186373" "157186373" "dup" "0" "00006" "NR4A2_000024" "g.157186373dup" "" "{PMID:Wirth 2020:31922365}" "" "326dupA" "ACMG PVS1, PS2, PM2" "De novo" "" "" "0" "" "" "g.156329861dup" "" "pathogenic (dominant)" "ACMG" "0001061855" "0" "90" "2" "157185035" "157185035" "dup" "0" "00006" "NR4A2_000025" "g.157185035dup" "" "{PMID:Wirth 2020:31922365}" "" "881dupA" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.156328523dup" "" "likely pathogenic (dominant)" "ACMG" "0001061856" "0" "90" "2" "157186373" "157186373" "dup" "0" "00006" "NR4A2_000024" "g.157186373dup" "" "{PMID:Ramos 2019:31428396}" "" "326dupA" "" "De novo" "" "" "0" "" "" "g.156329861dup" "" "pathogenic (dominant)" "" "0001068676" "0" "90" "2" "153672746" "162984611" "del" "0" "00006" "NR4A2_000033" "g.153672746_162984611del" "" "{DOI:Yepez 2026:10.64898/2026.02.10.26345954}" "" "" "RNA expression multiple genes 0.50 reduced" "Germline" "" "" "0" "" "" "g.152816234_162128099del" "" "pathogenic (dominant)" "" ## 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 = 38 "{{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.(=)" "" "0001050832" "00014790" "50" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Val277Met)" "" "0001050833" "00014790" "50" "611" "0" "611" "0" "c.611C>T" "r.(?)" "p.(Pro204Leu)" "" "0001050834" "00014790" "30" "-2109" "0" "-2109" "0" "c.-2109A>G" "r.(?)" "p.(=)" "" "0001061760" "00014790" "70" "914" "0" "914" "0" "c.914G>A" "r.(?)" "p.(Cys305Tyr)" "" "0001061846" "00014790" "70" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Cys280Tyr)" "" "0001061847" "00014790" "70" "865" "-1" "865" "0" "c.865-1_865delinsAAAAAGGAGT" "r.865_994del" "p.Arg289TrpfsTer7" "3i" "0001061848" "00014790" "70" "1175" "0" "1175" "0" "c.1175A>G" "r.(?)" "p.(Asp392Gly)" "" "0001061849" "00014790" "70" "1576" "0" "1576" "0" "c.1576G>T" "r.(?)" "p.(Glu526Ter)" "" "0001061850" "00014790" "70" "325" "0" "325" "0" "c.325dup" "r.(?)" "p.(Gln109ProfsTer3)" "" "0001061851" "00014790" "70" "857" "0" "857" "0" "c.857T>C" "r.(?)" "p.(Phe286Ser)" "" "0001061852" "00014790" "70" "968" "0" "968" "0" "c.968G>T" "r.(?)" "p.(Cys323Phe)" "" "0001061853" "00014790" "70" "-1299376" "0" "2393841" "0" "c.(?_-1299376)_(*2392044_?)del" "r.0" "p.0" "_1_8_" "0001061854" "00014790" "90" "326" "0" "326" "0" "c.326dup" "r.(?)" "p.(Ser110ValfsTer2)" "" "0001061855" "00014790" "90" "881" "0" "881" "0" "c.881dup" "r.(?)" "p.(Asn294LysfsTer10)" "" "0001061856" "00014790" "90" "326" "0" "326" "0" "c.326dup" "r.(?)" "p.(Ser110ValfsTer2)" "" "0001068676" "00014790" "90" "" "0" "" "0" "c.-5795746_*3509510del" "r.0" "p.0" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000455045" "0000990021" "0000465936" "0001029722" "0000473016" "0001061760" "0000473073" "0001061846" "0000473074" "0001061847" "0000473075" "0001061848" "0000473076" "0001061849" "0000473077" "0001061850" "0000473078" "0001061851" "0000473079" "0001061852" "0000473080" "0001061853" "0000473081" "0001061854" "0000473082" "0001061855" "0000473083" "0001061856" "0000474363" "0001068676"