### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TBX19) # 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}}" "TBX19" "T-box 19" "1" "q23-q24" "unknown" "NG_008244.1" "UD_132118276178" "" "https://www.LOVD.nl/TBX19" "" "1" "11596" "9095" "604614" "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/TBX19_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-12-22 13:14:38" "00006" "2025-01-23 20:01:30" ## 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}}" "00020862" "TBX19" "T-box 19" "001" "NM_005149.2" "" "NP_005140.1" "" "" "" "-51" "2771" "1347" "168250278" "168283664" "" "0000-00-00 00:00:00" "" "" ## 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}}" "01623" "IAD" "ACTH deficiency, isolated (IAD)" "AR" "201400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TBX19" "01623" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00303040" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat85" "00375265" "" "" "" "1" "" "01164" "" "" "M" "?" "Turkey" "" "0" "" "" "" "179855" "00428113" "" "" "" "2" "" "04444" "{PMID:Charnay 2023:36890856}, {DOI:Charnay 2023:10.3389/fendo.2022.1080649}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parentsneonatal" "F;M" "yes" "France" ">07y" "0" "" "" "Morocco" "Fam3PatII3/4" "00460350" "" "" "" "1" "" "00006" "{PMID:Charnay 2023:36890856}, {DOI:Charnay 2023:10.3389/fendo.2022.1080649}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Morocco" "" "0" "" "" "" "Fam1PatIv4" "00460351" "" "" "" "1" "" "00006" "{PMID:Charnay 2023:36890856}, {DOI:Charnay 2023:10.3389/fendo.2022.1080649}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "France" "" "0" "" "" "Morocco" "Fam2PatIV1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00303040" "05521" "00375265" "01623" "00428113" "01623" "00460350" "01623" "00460351" "01623" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01623, 05521 ## Count = 3 "{{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}}" "0000230123" "05521" "00303040" "00006" "Familial, autosomal recessive" "" "Symptomatic seizures; age onset neonatal" "" "" "" "" "" "" "" "" "seizures" "0000270476" "01623" "00375265" "01164" "Familial, autosomal recessive" "" "Congenital ACTH deficiency, secondary adrenal insufficiency" "" "06y" "" "" "" "" "" "" "" "0000319049" "01623" "00428113" "04444" "Familial, autosomal recessive" "00y05m" "see paper; ..." "" "00y01m" "hypoglycemia" "" "" "" "" "IAD" "ACTH deficiency" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000304165" "00303040" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000376460" "00375265" "1" "01164" "01164" "2021-06-02 11:30:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000429525" "00428113" "1" "04444" "04444" "2022-12-22 11:26:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000461982" "00460350" "1" "00006" "00006" "2025-01-23 19:57:57" "" "" "SEQ" "DNA" "" "" "0000461983" "00460351" "1" "00006" "00006" "2025-01-23 20:00:30" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000304165" "TBX19" "0000376460" "TBX19" "0000429525" "TBX19" "0000461982" "TBX19" "0000461983" "TBX19" ## 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 = 21 "{{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}}" "0000337328" "0" "10" "1" "168262527" "168262527" "subst" "0" "02327" "TBX19_000003" "g.168262527G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.168293289G>T" "" "benign" "" "0000342095" "0" "90" "1" "168262448" "168262448" "subst" "5.68722E-5" "02327" "TBX19_000002" "g.168262448C>T" "" "" "" "TBX19(NM_005149.3):c.535C>T (p.R179*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.168293210C>T" "" "pathogenic" "" "0000504108" "0" "30" "1" "168260395" "168260395" "subst" "0.000738348" "02327" "TBX19_000005" "g.168260395T>C" "" "" "" "TBX19(NM_005149.3):c.204-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.168291157T>C" "" "likely benign" "" "0000504113" "0" "10" "1" "168262526" "168262527" "ins" "0" "01943" "TBX19_000010" "g.168262526_168262527insTT" "" "" "" "TBX19(NM_005149.2):c.603+9_603+10insTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.168293288_168293289insTT" "" "benign" "" "0000504115" "0" "10" "1" "168262563" "168262564" "dup" "0" "01943" "TBX19_000011" "g.168262563_168262564dup" "" "" "" "TBX19(NM_005149.2):c.603+47_603+48dupGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.168293325_168293326dup" "" "benign" "" "0000504116" "0" "30" "1" "168274279" "168274279" "subst" "0.00107276" "01943" "TBX19_000012" "g.168274279T>C" "" "" "" "TBX19(NM_005149.2):c.761T>C (p.V254A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.168305041T>C" "" "likely benign" "" "0000504117" "0" "10" "1" "168282261" "168282261" "subst" "0.443691" "02327" "TBX19_000013" "g.168282261T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.168313023T>A" "" "benign" "" "0000604981" "0" "70" "1" "168274374" "168274374" "subst" "2.84483E-5" "01943" "TBX19_000014" "g.168274374C>T" "" "" "" "TBX19(NM_005149.2):c.856C>T (p.R286*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.168305136C>T" "" "likely pathogenic" "" "0000653803" "0" "50" "1" "168250510" "168250510" "subst" "0" "02327" "TBX19_000015" "g.168250510T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.168281272T>C" "" "VUS" "" "0000667563" "3" "90" "1" "168250403" "168250406" "del" "0" "00006" "TBX19_000016" "g.168250403_168250406del" "" "{PMID:Helbig 2016:26795593}" "" "75_78delTGAG" "" "Germline" "" "" "0" "" "" "g.168281165_168281168del" "" "pathogenic (recessive)" "ACMG" "0000687937" "0" "90" "1" "168274300" "168274300" "del" "0" "01943" "TBX19_000017" "g.168274300del" "" "" "" "TBX19(NM_005149.2):c.782delA (p.N261Ifs*46), TBX19(NM_005149.3):c.782delA (p.N261Ifs*46)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000716976" "0" "50" "1" "168274327" "168274327" "subst" "0" "01943" "TBX19_000018" "g.168274327T>C" "" "" "" "TBX19(NM_005149.2):c.809T>C (p.L270P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000788066" "3" "70" "1" "168250500" "168250500" "subst" "0" "01164" "TBX19_000019" "g.168250500A>G" "" "PMID: 28458651, 15613420, 22170728" "" "" "ACMG: PS3, PM2_SUP, PM3_SUP, PP3" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000798895" "0" "30" "1" "168250406" "168250406" "subst" "0.000308996" "01943" "TBX19_000020" "g.168250406G>A" "" "" "" "TBX19(NM_005149.2):c.78G>A (p.E26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798896" "0" "90" "1" "168274300" "168274300" "del" "0" "02325" "TBX19_000017" "g.168274300del" "" "" "" "TBX19(NM_005149.2):c.782delA (p.N261Ifs*46), TBX19(NM_005149.3):c.782delA (p.N261Ifs*46)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000909051" "3" "70" "1" "168274358" "168274358" "del" "0" "04444" "TBX19_000021" "g.168274358del" "" "{PMID:Charnay 2023:36890856}, {DOI:Charnay 2023:10.3389/fendo.2022.1080649}" "" "" "" "Germline" "yes" "" "0" "" "" "g.168305120del" "" "pathogenic (recessive)" "ACMG" "0000923000" "0" "30" "1" "168260395" "168260395" "subst" "0.000738348" "02325" "TBX19_000005" "g.168260395T>C" "" "" "" "TBX19(NM_005149.3):c.204-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923001" "0" "90" "1" "168262448" "168262448" "subst" "5.68722E-5" "02325" "TBX19_000002" "g.168262448C>T" "" "" "" "TBX19(NM_005149.3):c.535C>T (p.R179*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000960612" "0" "70" "1" "168262467" "168262467" "subst" "0" "02327" "TBX19_000022" "g.168262467C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001021360" "3" "90" "1" "168274358" "168274358" "del" "0" "00006" "TBX19_000021" "g.168274358del" "" "{PMID:Charnay 2023:36890856}, {DOI:Charnay 2023:10.3389/fendo.2022.1080649}" "" "" "" "Germline" "yes" "" "0" "" "" "g.168305120del" "" "pathogenic (recessive)" "" "0001021361" "3" "90" "1" "168274358" "168274358" "del" "0" "00006" "TBX19_000021" "g.168274358del" "" "{PMID:Charnay 2023:36890856}, {DOI:Charnay 2023:10.3389/fendo.2022.1080649}" "" "" "" "Germline" "yes" "" "0" "" "" "g.168305120del" "" "pathogenic (recessive)" "" ## 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 TBX19 ## Count = 21 "{{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}}" "0000337328" "00020862" "10" "603" "11" "603" "11" "c.603+11G>T" "r.(=)" "p.(=)" "" "0000342095" "00020862" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Ter)" "" "0000504108" "00020862" "30" "204" "-3" "204" "-3" "c.204-3T>C" "r.spl?" "p.?" "" "0000504113" "00020862" "10" "603" "10" "603" "11" "c.603+10_603+11insTT" "r.(=)" "p.(=)" "" "0000504115" "00020862" "10" "603" "47" "603" "48" "c.603+47_603+48dup" "r.(=)" "p.(=)" "" "0000504116" "00020862" "30" "761" "0" "761" "0" "c.761T>C" "r.(?)" "p.(Val254Ala)" "" "0000504117" "00020862" "10" "1368" "0" "1368" "0" "c.*21T>A" "r.(=)" "p.(=)" "" "0000604981" "00020862" "70" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Arg286Ter)" "" "0000653803" "00020862" "50" "182" "0" "182" "0" "c.182T>C" "r.(?)" "p.(Met61Thr)" "" "0000667563" "00020862" "90" "75" "0" "78" "0" "c.75_78del" "r.(?)" "p.(Glu26Phefs*35)" "" "0000687937" "00020862" "90" "782" "0" "782" "0" "c.782del" "r.(?)" "p.(Asn261IlefsTer46)" "" "0000716976" "00020862" "50" "809" "0" "809" "0" "c.809T>C" "r.(?)" "p.(Leu270Pro)" "" "0000788066" "00020862" "70" "172" "0" "172" "0" "c.172A>G" "r.(?)" "p.(Thr58Ala)" "1" "0000798895" "00020862" "30" "78" "0" "78" "0" "c.78G>A" "r.(?)" "p.(Glu26=)" "" "0000798896" "00020862" "90" "782" "0" "782" "0" "c.782del" "r.(?)" "p.(Asn261IlefsTer46)" "" "0000909051" "00020862" "70" "840" "0" "840" "0" "c.840del" "r.(840del)" "p.(Glu280Aspfs*27)" "6" "0000923000" "00020862" "30" "204" "-3" "204" "-3" "c.204-3T>C" "r.spl?" "p.?" "" "0000923001" "00020862" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Ter)" "" "0000960612" "00020862" "70" "554" "0" "554" "0" "c.554C>T" "r.(?)" "p.(Ser185Phe)" "" "0001021360" "00020862" "90" "840" "0" "840" "0" "c.840del" "r.(840del)" "p.(Glu280AspfsTer27)" "" "0001021361" "00020862" "90" "840" "0" "840" "0" "c.840del" "r.(840del)" "p.(Glu280AspfsTer27)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000304165" "0000667563" "0000376460" "0000788066" "0000429525" "0000909051" "0000461982" "0001021360" "0000461983" "0001021361"