### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IRF3) # 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}}" "IRF3" "interferon regulatory factor 3" "19" "q13.3-q13.4" "unknown" "NG_031810.1" "UD_134408546227" "" "https://www.LOVD.nl/IRF3" "" "1" "6118" "3661" "603734" "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/IRF3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-01-18 19:23:52" "00000" "2025-05-05 21:14:00" ## 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}}" "00010136" "IRF3" "transcript variant 1" "007" "NM_001571.5" "" "NP_001562.1" "" "" "" "-253" "1363" "1284" "50169132" "50162826" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00211" "ENC" "encephalopathy (ENC)" "" "" "" "" "" "00006" "2013-09-24 21:07:28" "00006" "2015-12-07 07:11:25" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "04521" "IIAE7" "encephalitis, Herpes simplex?, susceptibility to, type 7" "AD" "616532" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "IRF3" "04521" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00334496" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00398873" "" "" "" "1" "" "04242" "" "" "M" "?" "Viet Nam" "" "0" "" "" "" "0115001" "00399287" "" "" "" "1" "" "00006" "{PMID:Andersen 2015:26216125}, {PMID:Mork 2015:26513235}" "2-generation family, 1 affected, unaffected heterozygous carrier father" "F" "" "Denmark" "" "0" "" "" "" "patient" "00399288" "" "" "" "1" "" "00006" "{PMID:Mork 2015:26513235}" "" "M" "" "Denmark" "" "0" "" "" "" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00334496" "05793" "00398873" "04270" "00399287" "00211" "00399288" "00211" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00211, 04270, 04521, 05793 ## Count = 4 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000253209" "05793" "00334496" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "COVID-19" "0000291961" "04270" "00398873" "04242" "Familial, autosomal dominant" "01y09m" "seizure at early month age, seizure with episodes (4-5 times per day)" "01y" "01y" "seizure" "" "" "" "" "epilepsy" "0000292404" "00211" "00399287" "00006" "Unknown" "15y" "see paper; ..., herpes simplex encephalitis" "" "" "" "" "" "" "" "herpes simplex encephalitis" "0000292405" "00211" "00399288" "00006" "Unknown" "34y" "see paper; ..., herpes simplex encephalitis, EEG normal" "" "" "" "" "" "" "" "herpes simplex encephalitis" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000335725" "00334496" "1" "04011" "04011" "2021-03-01 06:48:10" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000400115" "00398873" "1" "04242" "04242" "2022-01-14 04:01:08" "" "" "SEQ-NG-I" "DNA" "whole blood" "WES" "0000400530" "00399287" "1" "00006" "00006" "2022-01-18 19:41:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400531" "00399288" "1" "00006" "00006" "2022-01-18 19:50:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000400115" "IRF3" ## 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}}" "0000326726" "0" "50" "19" "50169995" "50169995" "subst" "0" "01804" "BCL2L12_000001" "g.50169995G>A" "" "" "" "BCL2L12(NM_001040668.1):c.298G>A (p.(Val100Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49666738G>A" "" "VUS" "" "0000568025" "0" "30" "19" "50165750" "50165750" "subst" "2.16621E-5" "01943" "BCL2L12_000002" "g.50165750T>C" "" "" "" "IRF3(NM_001197123.1):c.428A>G (p.N143S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49662493T>C" "" "likely benign" "" "0000617802" "0" "30" "19" "50162897" "50162897" "subst" "1.26784E-5" "01943" "BCL2L12_000003" "g.50162897G>T" "" "" "" "IRF3(NM_001197122.1):c.1308C>A (p.R436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49659640G>T" "" "likely benign" "" "0000617803" "0" "30" "19" "50169179" "50169179" "subst" "0.000142444" "01943" "BCL2L12_000005" "g.50169179C>G" "" "" "" "BCL2L12(NM_138639.1):c.99C>G (p.P33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49665922C>G" "" "likely benign" "" "0000624052" "0" "30" "19" "50165358" "50165358" "subst" "0.00395824" "02326" "BCL2L12_000004" "g.50165358C>T" "" "" "" "IRF3(NM_001197123.2):c.724G>A (p.A242T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49662101C>T" "" "likely benign" "" "0000658633" "0" "30" "19" "50162875" "50162875" "subst" "4.69171E-6" "02326" "BCL2L12_000007" "g.50162875G>A" "" "" "" "IRF3(NM_001197122.2):c.1330C>T (p.P444S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49659618G>A" "" "likely benign" "" "0000692863" "0" "30" "19" "50163997" "50163997" "subst" "0" "02325" "BCL2L12_000008" "g.50163997C>T" "" "" "" "IRF3(NM_001571.6):c.1071G>A (p.P357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727478" "0" "50" "19" "50164069" "50164069" "subst" "3.553E-5" "02327" "BCL2L12_000009" "g.50164069C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000734499" "0" "70" "19" "50165549" "50165549" "subst" "0" "04011" "IRF3_000002" "g.50165549C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000808982" "0" "50" "19" "50165259" "50165259" "subst" "2.03356E-5" "02325" "BCL2L12_000010" "g.50165259C>T" "" "" "" "IRF3(NM_001571.6):c.928G>A (p.E310K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000832883" "11" "70" "19" "50166621" "50166621" "subst" "1.21826E-5" "04242" "IRF3_000003" "g.50166621T>C" "" "" "" "g.316A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000833443" "11" "70" "19" "50165333" "50165333" "subst" "4.06947E-5" "00006" "IRF3_000004" "g.50165333C>T" "" "{PMID:Andersen 2015:26216125}, {PMID:Mork 2015:26513235}" "" "" "reduced penetrance (unaffected father); variant analysed functionaly" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000833444" "0" "50" "19" "50165358" "50165358" "subst" "0.00395824" "00006" "BCL2L12_000004" "g.50165358C>T" "" "{PMID:Mork 2015:26513235}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000855665" "0" "30" "19" "50165494" "50165494" "subst" "0" "02326" "BCL2L12_000012" "g.50165494G>C" "" "" "" "IRF3(NM_001571.6):c.693C>G (p.S231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855666" "0" "30" "19" "50167912" "50167912" "subst" "4.11174E-6" "02326" "BCL2L12_000013" "g.50167912C>T" "" "" "" "IRF3(NM_001571.6):c.165+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866229" "0" "30" "19" "50162898" "50162898" "subst" "0.000620562" "01943" "BCL2L12_000011" "g.50162898C>T" "" "" "" "IRF3(NM_001197122.1):c.1307G>A (p.R436H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895088" "0" "30" "19" "50162920" "50162920" "subst" "8.16947E-6" "02326" "BCL2L12_000014" "g.50162920G>A" "" "" "" "IRF3(NM_001571.6):c.1269C>T (p.G423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895089" "0" "30" "19" "50166585" "50166585" "subst" "0" "02326" "BCL2L12_000015" "g.50166585C>A" "" "" "" "IRF3(NM_001571.6):c.337+15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926929" "0" "30" "19" "50165603" "50165603" "subst" "4.10721E-6" "02326" "BCL2L12_000016" "g.50165603C>A" "" "" "" "IRF3(NM_001571.6):c.602-18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931088" "0" "30" "19" "50168032" "50168032" "subst" "8.13564E-6" "02326" "BCL2L12_000017" "g.50168032C>T" "" "" "" "IRF3(NM_001571.6):c.64G>A (p.E22K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005013" "0" "30" "19" "50157988" "50157988" "subst" "0" "01804" "BCL2L12_000018" "g.50157988G>T" "" "" "" "SCAF1(NM_021228.2):c.3479G>T (p.(Gly1160Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043106" "0" "50" "19" "50162988" "50162988" "subst" "8.1281E-6" "02325" "BCL2L12_000019" "g.50162988G>C" "" "" "" "IRF3(NM_001571.6):c.1201C>G (p.L401V)" "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 IRF3 ## 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}}" "0000326726" "00010136" "50" "-1116" "0" "-1116" "0" "c.-1116C>T" "r.(?)" "p.(=)" "" "0000568025" "00010136" "30" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asn178Ser)" "" "0000617802" "00010136" "30" "1292" "0" "1292" "0" "c.*8C>A" "r.(=)" "p.(=)" "" "0000617803" "00010136" "30" "-300" "0" "-300" "0" "c.-300G>C" "r.(?)" "p.(=)" "" "0000624052" "00010136" "30" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Ala277Thr)" "" "0000658633" "00010136" "30" "1314" "0" "1314" "0" "c.*30C>T" "r.(=)" "p.(=)" "" "0000692863" "00010136" "30" "1071" "0" "1071" "0" "c.1071G>A" "r.(?)" "p.(Pro357=)" "" "0000727478" "00010136" "50" "999" "0" "999" "0" "c.999G>A" "r.(?)" "p.(Thr333=)" "" "0000734499" "00010136" "50" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Arg213His)" "" "0000808982" "00010136" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Glu310Lys)" "" "0000832883" "00010136" "70" "316" "0" "316" "0" "c.316A>G" "r.(?)" "p.(Ile106Val)" "" "0000833443" "00010136" "70" "854" "0" "854" "0" "c.854G>A" "r.(?)" "p.(Arg285Gln)" "" "0000833444" "00010136" "50" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Ala277Thr)" "" "0000855665" "00010136" "30" "693" "0" "693" "0" "c.693C>G" "r.(?)" "p.(Ser231=)" "" "0000855666" "00010136" "30" "165" "19" "165" "19" "c.165+19G>A" "r.(=)" "p.(=)" "" "0000866229" "00010136" "30" "1291" "0" "1291" "0" "c.*7G>A" "r.(=)" "p.(=)" "" "0000895088" "00010136" "30" "1269" "0" "1269" "0" "c.1269C>T" "r.(?)" "p.(Gly423=)" "" "0000895089" "00010136" "30" "337" "15" "337" "15" "c.337+15G>T" "r.(=)" "p.(=)" "" "0000926929" "00010136" "30" "602" "-18" "602" "-18" "c.602-18G>T" "r.(=)" "p.(=)" "" "0000931088" "00010136" "30" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "" "0001005013" "00010136" "30" "6201" "0" "6201" "0" "c.*4917C>A" "r.(=)" "p.(=)" "" "0001043106" "00010136" "50" "1201" "0" "1201" "0" "c.1201C>G" "r.(?)" "p.(Leu401Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000335725" "0000734499" "0000400115" "0000832883" "0000400530" "0000833443" "0000400531" "0000833444"