### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NR3C1) # 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}}" "NR3C1" "nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)" "5" "q31-q32" "unknown" "NG_009062.1" "UD_132118508637" "" "http://www.LOVD.nl/NR3C1" "" "1" "7978" "2908" "138040" "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/NR3C1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-03-29 20:52:38" "00000" "2023-07-07 10:10:56" ## 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}}" "00024117" "NR3C1" "transcript variant 5" "003" "NM_001018077.1" "" "NP_001018087.1" "" "" "" "-994" "6292" "2334" "142815077" "142657496" "00006" "2016-03-29 20:54:14" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "04598" "GCCR" "glucocorticoid resistance (GCCR)" "AD" "615962" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NR3C1" "04598" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00060245" "" "" "" "1" "" "01566" "" "" "F" "" "" "" "0" "" "" "" "" "00060246" "" "" "" "1" "" "01566" "" "" "M" "" "" "" "0" "" "" "" "" "00060247" "" "" "" "1" "" "01566" "" "" "M" "" "" "" "0" "" "" "" "" "00293770" "" "" "" "59" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293771" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" "00060245" "04598" "00060246" "04598" "00060247" "04598" "00293770" "00198" "00293771" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04598 ## Count = 4 "{{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}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000046790" "04598" "00060245" "01566" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046791" "04598" "00060246" "01566" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046792" "04598" "00060247" "01566" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000060230" "00060245" "1" "01566" "01566" "2016-03-17 16:17:42" "" "" "SEQ" "DNA" "" "" "0000060231" "00060246" "1" "01566" "01566" "2016-03-17 16:42:11" "" "" "SEQ" "DNA" "" "" "0000060232" "00060247" "1" "01566" "01566" "2016-03-17 16:55:43" "" "" "SEQ" "DNA" "" "" "0000294938" "00293770" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294939" "00293771" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000060230" "NR3C1" "0000060231" "NR3C1" "0000060232" "NR3C1" ## 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}}" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000091220" "21" "90" "5" "142689701" "142689701" "subst" "0" "01566" "NR3C1_000001" "g.142689701G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.143310136G>T" "" "pathogenic" "" "0000091221" "1" "90" "5" "142689697" "142689697" "subst" "0" "01566" "NR3C1_000002" "g.142689697T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.143310132T>C" "" "pathogenic" "" "0000091222" "0" "90" "5" "142675033" "142675033" "subst" "0" "01566" "NR3C1_000003" "g.142675033A>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.143295468A>G" "" "pathogenic" "" "0000091223" "0" "90" "5" "142689725" "142689725" "subst" "4.06474E-6" "01566" "NR3C1_000004" "g.142689725G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.143310160G>A" "" "pathogenic" "" "0000300418" "0" "10" "5" "142678361" "142678361" "subst" "0.00830257" "02326" "NR3C1_000006" "g.142678361G>A" "" "" "" "NR3C1(NM_001018077.1):c.1764C>T (p.H588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143298796G>A" "" "benign" "" "0000300419" "0" "10" "5" "142662358" "142662358" "del" "0" "02326" "NR3C1_000005" "g.142662358del" "" "" "" "NR3C1(NM_001018077.1):c.2024-53delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143282793del" "" "benign" "" "0000337209" "0" "10" "5" "142680344" "142680344" "subst" "0.257402" "02327" "NR3C1_000009" "g.142680344C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143300779C>A" "" "benign" "" "0000337210" "0" "10" "5" "142783013" "142783013" "subst" "0" "02327" "NR3C1_000011" "g.142783013A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143403448A>G" "" "benign" "" "0000337211" "0" "10" "5" "142783015" "142783016" "ins" "0" "02327" "NR3C1_000012" "g.142783015_142783016insC" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143403450_143403451insC" "" "benign" "" "0000339440" "0" "10" "5" "142661490" "142661490" "subst" "0.123946" "02327" "NR3C1_000007" "g.142661490A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143281925A>G" "" "benign" "" "0000346519" "0" "50" "5" "142662137" "142662137" "subst" "0" "02327" "NR3C1_000008" "g.142662137T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143282572T>C" "" "VUS" "" "0000524615" "0" "10" "5" "142779720" "142779720" "subst" "0.00143032" "02327" "NR3C1_000014" "g.142779720C>T" "" "" "" "NR3C1(NM_001018077.1):c.685G>A (p.A229T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143400155C>T" "" "benign" "" "0000609544" "0" "30" "5" "142661472" "142661480" "del" "0" "02327" "NR3C1_000015" "g.142661472_142661480del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143281907_143281915del" "" "likely benign" "" "0000651627" "1" "30" "5" "142780337" "142780337" "subst" "0.0183809" "03575" "NR3C1_000016" "g.142780337C>T" "59/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "59 heterozygous, no homozygous; {DB:CLININrs6190}" "Germline" "" "rs6190" "0" "" "" "g.143400772C>T" "" "likely benign" "" "0000651628" "1" "30" "5" "142780339" "142780339" "subst" "0.0183807" "03575" "NR3C1_000017" "g.142780339C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs6189}" "Germline" "" "rs6189" "0" "" "" "g.143400774C>T" "" "likely benign" "" "0000677420" "0" "10" "5" "142780339" "142780339" "subst" "0.0183807" "02326" "NR3C1_000017" "g.142780339C>T" "" "" "" "NR3C1(NM_001018077.1):c.66G>A (p.E22=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859792" "0" "30" "5" "142779720" "142779720" "subst" "0.00143032" "02326" "NR3C1_000014" "g.142779720C>T" "" "" "" "NR3C1(NM_001018077.1):c.685G>A (p.A229T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886652" "0" "30" "5" "142680227" "142680227" "subst" "0.000662063" "02326" "NR3C1_000019" "g.142680227T>C" "" "" "" "NR3C1(NM_001018077.1):c.1570A>G (p.T524A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924265" "0" "10" "5" "142780212" "142780212" "subst" "0.000974738" "02326" "NR3C1_000020" "g.142780212A>C" "" "" "" "NR3C1(NM_001018077.1):c.193T>G (p.F65V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929027" "0" "30" "5" "142782888" "142782888" "del" "0" "02327" "NR3C1_000021" "g.142782888del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929028" "0" "10" "5" "142783087" "142783087" "subst" "0" "02327" "NR3C1_000022" "g.142783087A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 NR3C1 ## 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}}" "0000079500" "00024117" "00" "-2903202" "0" "8388607" "0" "c.-2903202_*18832930dup" "" "" "" "0000091220" "00024117" "90" "1429" "0" "1429" "0" "c.1429C>A" "r.(?)" "p.(Arg477Ser)" "4" "0000091221" "00024117" "90" "1433" "0" "1433" "0" "c.1433A>G" "r.(?)" "p.(Tyr478Cys)" "4" "0000091222" "00024117" "90" "2015" "0" "2015" "0" "c.2015T>C" "r.(?)" "p.(Leu672Pro)" "7" "0000091223" "00024117" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469*)" "4" "0000300418" "00024117" "10" "1764" "0" "1764" "0" "c.1764C>T" "r.(?)" "p.(His588=)" "" "0000300419" "00024117" "10" "2024" "-53" "2024" "-53" "c.2024-53del" "r.(=)" "p.(=)" "" "0000337209" "00024117" "10" "1469" "-16" "1469" "-16" "c.1469-16G>T" "r.(=)" "p.(=)" "" "0000337210" "00024117" "10" "-13" "-2596" "-13" "-2596" "c.-13-2596T>C" "r.(=)" "p.(=)" "" "0000337211" "00024117" "10" "-13" "-2599" "-13" "-2598" "c.-13-2599_-13-2598insG" "r.(=)" "p.(=)" "" "0000339440" "00024117" "10" "2298" "0" "2298" "0" "c.2298T>C" "r.(?)" "p.(Asn766=)" "" "0000346519" "00024117" "50" "2177" "0" "2177" "0" "c.2177A>G" "r.(?)" "p.(His726Arg)" "" "0000524615" "00024117" "10" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Ala229Thr)" "" "0000609544" "00024117" "30" "2308" "0" "2316" "0" "c.2308_2316del" "r.(?)" "p.(Lys770_Leu772del)" "" "0000651627" "00024117" "30" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.(Arg23Lys)" "" "0000651628" "00024117" "30" "66" "0" "66" "0" "c.66G>A" "r.(=)" "p.(=)" "" "0000677420" "00024117" "10" "66" "0" "66" "0" "c.66G>A" "r.(?)" "p.(Glu22=)" "" "0000859792" "00024117" "30" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Ala229Thr)" "" "0000886652" "00024117" "30" "1570" "0" "1570" "0" "c.1570A>G" "r.(?)" "p.(Thr524Ala)" "" "0000924265" "00024117" "10" "193" "0" "193" "0" "c.193T>G" "r.(?)" "p.(Phe65Val)" "" "0000929027" "00024117" "30" "-13" "-2471" "-13" "-2471" "c.-13-2471del" "r.(=)" "p.(=)" "" "0000929028" "00024117" "10" "-13" "-2670" "-13" "-2670" "c.-13-2670T>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000050520" "0000079500" "0000060230" "0000091220" "0000060231" "0000091221" "0000060232" "0000091222" "0000294938" "0000651627" "0000294939" "0000651628"