### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TBX4) # 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}}" "TBX4" "T-box 4" "17" "q21-q22" "unknown" "NG_008080.1" "UD_132085339234" "" "https://www.LOVD.nl/TBX4" "" "1" "11603" "9496" "601719" "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/TBX4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-05-05 13:27:53" "00000" "2026-01-20 18:57:21" ## 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}}" "00020855" "TBX4" "T-box 4" "001" "NM_018488.2" "" "NP_060958.2" "" "" "" "-45" "2425" "1638" "59533807" "59561664" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00727" "ICPPS" "ischiocoxopodopatellar syndrome (ICPPS, small patella syndrome)" "AD" "147891" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05636" "EVR7" "vitreoretinopathy exudative, type 7 (EVR-7)" "AD" "617572" "" "" "autosomal dominant" "02135" "2019-07-29 16:32:00" "00006" "2021-12-10 21:51:32" "06328" "PAPPAS" "Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome" "AR" "601360" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TBX4" "00727" "TBX4" "06328" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00103979" "" "" "" "4" "" "01217" "" "" "" "" "" "" "0" "" "" "" "Family_1" "00103980" "" "" "" "1" "" "01217" "" "" "" "" "" "" "0" "" "" "" "Family_2" "00103981" "" "" "" "3" "" "01217" "" "" "" "" "" "" "0" "" "" "" "Family_3" "00103982" "" "" "" "2" "" "01217" "" "" "" "" "" "" "0" "" "" "" "Family_4" "00103984" "" "" "" "2" "" "01217" "" "" "" "" "" "" "0" "" "" "" "Family_5" "00103986" "" "" "" "1" "" "01217" "family_7" "" "" "" "" "" "0" "" "" "" "F" "00262095" "" "" "" "1" "" "03382" "{PMID:Karolak 2019:31309540}" "" "M" "no" "United States" "00y04m" "0" "" "" "white" "Patient 1" "00269860" "" "" "" "3" "" "00006" "{PMID:Kariminejad 2019:31761294}" "4-generation family, 3 affected fetuses, unaffected heterozygous carrier parents" "F" "yes" "Iran" "<0d" "0" "" "" "" "Fam1" "00269861" "" "" "" "1" "" "00006" "{PMID:Kariminejad 2019:31761294}" "4-generation family, 1 affected fetus, unaffected heterozygous carrier parents" "M" "yes" "Iran" "<0d" "0" "" "" "" "Fam2" "00434636" "" "" "" "1" "" "00006" "{PMID:Deshwar 2023:36990084}" "1-generation family, 1 affected, unaffected heterozygous parents" "F" "" "" "" "0" "" "" "" "CMC55" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00103979" "00727" "00103980" "00727" "00103981" "00727" "00103982" "00727" "00103984" "00727" "00103986" "00727" "00262095" "05636" "00269860" "00198" "00269861" "00198" "00434636" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00727, 05636, 06328 ## Count = 10 "{{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}}" "0000081911" "00727" "00103979" "01217" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081912" "00727" "00103980" "01217" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081913" "00727" "00103981" "01217" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081914" "00727" "00103982" "01217" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081915" "00727" "00103984" "01217" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081993" "00727" "00103986" "01217" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000200577" "05636" "00262095" "03382" "Isolated (sporadic)" "00y04m" "HP:0000252 Microcephaly\r\nHP:0001249 Intellectual Disability\r\nHP:0001257 Spasticity\r\nHP:0002878 Respiratory Failure" "00y" "00y04m" "" "" "" "" "" "" "Familial Exudative Vitreoretinopathy" "Norrie-like retinopathy" "" "0000207654" "00198" "00269860" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased fetus; complete posterior amelia, pelvis hypoplasia, pulmonary hypoplasia" "" "" "" "" "" "" "" "" "" "PAPPA syndrome" "" "0000207655" "00198" "00269861" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased fetus; complete posterior amelia, pelvis hypoplasia, pulmonary hypoplasia" "" "" "" "" "" "" "" "" "" "PAPPA syndrome" "" "0000324886" "00198" "00434636" "00006" "Unknown" "" "abnormal heart morphology, pulmonary arterial hypertension, chronic lung disease" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104449" "00103979" "1" "01217" "01217" "2017-05-04 15:52:40" "" "" "SEQ" "DNA" "blood" "" "0000104450" "00103980" "1" "01217" "01217" "2017-05-04 16:43:20" "" "" "SEQ" "DNA" "blood" "" "0000104451" "00103981" "1" "01217" "01217" "2017-05-04 16:55:10" "" "" "SEQ" "DNA" "blood" "" "0000104452" "00103982" "1" "01217" "01217" "2017-05-04 17:24:03" "" "" "SEQ" "DNA" "Blood" "" "0000104454" "00103984" "1" "01217" "01217" "2017-05-04 17:46:11" "" "" "SEQ" "DNA" "blood" "" "0000104459" "00103986" "1" "01217" "01217" "2017-05-05 16:18:33" "" "" "MAPH" "DNA" "blood" "" "0000263201" "00262095" "1" "03382" "03382" "2019-08-17 21:01:11" "" "" "SEQ" "DNA" "lung" "" "0000271013" "00269860" "1" "00006" "00006" "2019-12-08 09:50:29" "00006" "2019-12-08 09:52:40" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000271014" "00269861" "1" "00006" "00006" "2019-12-08 09:50:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436107" "00434636" "1" "00006" "00006" "2023-04-04 15:50:34" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000104449" "TBX4" "0000104450" "TBX4" "0000104451" "TBX4" "0000104452" "TBX4" "0000104454" "TBX4" "0000104459" "TBX4" "0000271013" "TBX4" "0000271014" "TBX4" ## 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 = 63 "{{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}}" "0000169192" "0" "70" "17" "59560351" "59560351" "dup" "0" "01217" "TBX4_000001" "g.59560351dup" "" "" "" "1112dupC" "" "Germline" "yes" "" "0" "" "" "g.61482990dup" "" "likely pathogenic" "" "0000169193" "0" "70" "17" "59557287" "59557287" "subst" "0" "01217" "TBX4_000002" "g.59557287C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.61479926C>T" "" "likely pathogenic" "" "0000169194" "0" "70" "17" "59560403" "59560403" "dup" "0" "01217" "TBX4_000003" "g.59560403dup" "" "" "" "1164_1165insC" "" "Germline" "yes" "" "0" "" "" "g.61483042dup" "" "likely pathogenic" "" "0000169195" "0" "70" "17" "59560301" "59560301" "subst" "0" "01217" "TBX4_000004" "g.59560301T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.61482940T>G" "" "likely pathogenic" "" "0000169197" "0" "70" "17" "59557560" "59557560" "subst" "0" "01217" "TBX4_000005" "g.59557560C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.61480199C>T" "" "likely pathogenic" "" "0000169200" "0" "70" "17" "59533807" "59543300" "" "0" "01217" "TBX4_000006" "g.(?_59533807)_(59543300_59544870)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000249832" "0" "50" "17" "59560384" "59560384" "subst" "4.06164E-5" "02325" "TBX4_000010" "g.59560384A>C" "" "" "" "TBX4(NM_018488.2):c.1145A>C (p.(Tyr382Ser)), TBX4(NM_018488.3):c.1145A>C (p.Y382S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61483023A>C" "" "VUS" "" "0000311746" "0" "30" "17" "59560687" "59560687" "subst" "0.000191934" "02325" "TBX4_000011" "g.59560687G>A" "" "" "" "TBX4(NM_018488.3):c.1448G>A (p.R483Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61483326G>A" "" "likely benign" "" "0000311747" "0" "30" "17" "59533867" "59533867" "subst" "0.00104891" "02325" "TBX4_000007" "g.59533867G>A" "" "" "" "TBX4(NM_018488.2):c.16G>A (p.(Gly6Ser)), TBX4(NM_018488.3):c.16G>A (p.G6S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61456506G>A" "" "likely benign" "" "0000311748" "0" "50" "17" "59534937" "59534937" "subst" "0" "02325" "TBX4_000008" "g.59534937C>T" "" "" "" "TBX4(NM_018488.3):c.226C>T (p.L76F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61457576C>T" "" "VUS" "" "0000311749" "0" "50" "17" "59543299" "59543299" "subst" "0" "02325" "TBX4_000009" "g.59543299G>C" "" "" "" "TBX4(NM_018488.3):c.401G>C (p.W134S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61465938G>C" "" "VUS" "" "0000336844" "0" "10" "17" "59557433" "59557433" "subst" "0.0838543" "02327" "TBX4_000022" "g.59557433T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61480072T>C" "" "benign" "" "0000338451" "0" "10" "17" "59544863" "59544863" "subst" "0.273686" "02327" "TBX4_000020" "g.59544863G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61467502G>A" "" "benign" "" "0000340259" "0" "10" "17" "59534987" "59534987" "subst" "0.19162" "02327" "TBX4_000016" "g.59534987T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61457626T>G" "" "benign" "" "0000340260" "0" "10" "17" "59560463" "59560463" "subst" "0.101077" "02327" "TBX4_000024" "g.59560463C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61483102C>T" "" "benign" "" "0000340261" "0" "10" "17" "59560685" "59560685" "subst" "0.114073" "02327" "TBX4_000025" "g.59560685C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61483324C>T" "" "benign" "" "0000341365" "0" "10" "17" "59557600" "59557600" "subst" "0.138359" "02327" "TBX4_000023" "g.59557600C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61480239C>T" "" "benign" "" "0000342420" "0" "90" "17" "59557287" "59557287" "subst" "0" "02327" "TBX4_000002" "g.59557287C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61479926C>T" "" "pathogenic" "" "0000346227" "0" "10" "17" "59533868" "59533868" "subst" "0.168811" "02327" "TBX4_000012" "g.59533868G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61456507G>C" "" "benign" "" "0000347919" "0" "90" "17" "59543185" "59543185" "subst" "0" "02327" "TBX4_000018" "g.59543185T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61465824T>A" "" "pathogenic" "" "0000349885" "0" "70" "17" "59543236" "59543236" "subst" "0" "02327" "TBX4_000019" "g.59543236A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61465875A>G" "" "likely pathogenic" "" "0000562514" "0" "30" "17" "59533955" "59533955" "subst" "0.00926567" "01804" "TBX4_000026" "g.59533955C>T" "" "" "" "TBX4(NM_001321120.1):c.104C>T (p.(Ala35Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61456594C>T" "" "likely benign" "" "0000562515" "0" "30" "17" "59557234" "59557234" "subst" "0.00172255" "01804" "TBX4_000027" "g.59557234C>T" "" "" "" "TBX4(NM_001321120.2):c.703-8C>T, TBX4(NM_018488.2):c.703-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61479873C>T" "" "likely benign" "" "0000562516" "0" "50" "17" "59557507" "59557507" "subst" "0" "02325" "TBX4_000028" "g.59557507A>G" "" "" "" "TBX4(NM_018488.3):c.848A>G (p.Q283R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61480146A>G" "" "VUS" "" "0000562517" "0" "90" "17" "59560403" "59560403" "dup" "0" "02325" "TBX4_000003" "g.59560403dup" "" "" "" "TBX4(NM_001321120.2):c.1167dupC (p.R390Qfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61483042dup" "" "pathogenic" "" "0000562518" "0" "30" "17" "59560632" "59560632" "subst" "6.5093E-5" "02327" "TBX4_000029" "g.59560632C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61483271C>T" "" "likely benign" "" "0000562519" "0" "30" "17" "59560704" "59560704" "subst" "1.64046E-5" "01804" "TBX4_000030" "g.59560704G>A" "" "" "" "TBX4(NM_001321120.2):c.1468G>A (p.A490T), TBX4(NM_018488.2):c.1465G>A (p.(Ala489Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61483343G>A" "" "likely benign" "" "0000593793" "11" "70" "17" "59560437" "59560437" "subst" "2.03084E-5" "00006" "TBX4_000031" "g.59560437G>A" "" "{PMID:Karolak 2019:31309540}" "" "" "" "Germline" "" "" "0" "" "" "g.61483076G>A" "" "VUS" "" "0000616725" "0" "30" "17" "59557234" "59557234" "subst" "0.00172255" "01943" "TBX4_000027" "g.59557234C>T" "" "" "" "TBX4(NM_001321120.2):c.703-8C>T, TBX4(NM_018488.2):c.703-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61479873C>T" "" "likely benign" "" "0000616726" "0" "90" "17" "59557282" "59557282" "subst" "0" "02327" "TBX4_000035" "g.59557282G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61479921G>T" "" "pathogenic" "" "0000616727" "0" "30" "17" "59560322" "59560322" "subst" "0.000647115" "01943" "TBX4_000036" "g.59560322G>C" "" "" "" "TBX4(NM_001321120.2):c.1086G>C (p.V362=), TBX4(NM_018488.3):c.1083G>C (p.V361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61482961G>C" "" "likely benign" "" "0000623732" "0" "30" "17" "59557239" "59557239" "subst" "0" "01943" "TBX4_000034" "g.59557239C>T" "" "" "" "TBX4(NM_001321120.2):c.703-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61479878C>T" "" "likely benign" "" "0000624851" "3" "90" "17" "59543237" "59543237" "subst" "0" "00006" "TBX4_000032" "g.59543237T>A" "" "{PMID:Kariminejad 2019:31761294}" "" "" "no RNA expression measured (NMD)" "Germline" "yes" "" "0" "" "" "g.61465876T>A" "" "pathogenic (recessive)" "" "0000624852" "3" "90" "17" "59543277" "59543277" "subst" "0" "00006" "TBX4_000033" "g.59543277T>A" "" "{PMID:Kariminejad 2019:31761294}" "" "" "" "Germline" "" "" "0" "" "" "g.61465916T>A" "" "pathogenic (recessive)" "" "0000680947" "0" "50" "17" "59543297" "59543297" "subst" "0.000288304" "01943" "TBX4_000037" "g.59543297A>T" "" "" "" "TBX4(NM_001321120.2):c.399A>T (p.K133N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680948" "0" "30" "17" "59557443" "59557443" "subst" "0.000302456" "01943" "TBX4_000038" "g.59557443C>A" "" "" "" "TBX4(NM_001321120.2):c.792-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680949" "0" "50" "17" "59560588" "59560588" "subst" "8.12288E-6" "01943" "TBX4_000039" "g.59560588C>A" "" "" "" "TBX4(NM_001321120.2):c.1352C>A (p.T451N), TBX4(NM_018488.3):c.1349C>A (p.T450N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808152" "0" "50" "17" "59560318" "59560318" "subst" "5.69903E-5" "01804" "TBX4_000040" "g.59560318C>T" "" "" "" "TBX4(NM_018488.2):c.1079C>T (p.(Ser360Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808153" "0" "50" "17" "59560588" "59560588" "subst" "8.12288E-6" "02325" "TBX4_000039" "g.59560588C>A" "" "" "" "TBX4(NM_001321120.2):c.1352C>A (p.T451N), TBX4(NM_018488.3):c.1349C>A (p.T450N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855029" "0" "90" "17" "59544993" "59544996" "del" "0" "02325" "TBX4_000042" "g.59544993_59544996del" "" "" "" "TBX4(NM_018488.3):c.524_527delACAA (p.N175Tfs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855030" "0" "30" "17" "59560704" "59560704" "subst" "1.64046E-5" "01943" "TBX4_000030" "g.59560704G>A" "" "" "" "TBX4(NM_001321120.2):c.1468G>A (p.A490T), TBX4(NM_018488.2):c.1465G>A (p.(Ala489Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865395" "0" "50" "17" "59543271" "59543271" "subst" "0" "02325" "TBX4_000041" "g.59543271C>A" "" "" "" "TBX4(NM_018488.3):c.373C>A (p.H125N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894077" "0" "90" "17" "59557677" "59557677" "subst" "0" "02327" "TBX4_000043" "g.59557677C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894078" "0" "90" "17" "59560499" "59560499" "subst" "0" "02325" "TBX4_000044" "g.59560499G>A" "" "" "" "TBX4(NM_018488.3):c.1260G>A (p.W420*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894079" "0" "90" "17" "59560831" "59560831" "subst" "0" "02327" "TBX4_000045" "g.59560831A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000922448" "0" "90" "17" "59557677" "59557677" "subst" "0" "00006" "TBX4_000043" "g.59557677C>T" "" "{PMID:Deshwar 2023:36990084}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.61480316C>T" "" "pathogenic (dominant)" "" "0000926589" "0" "50" "17" "59545011" "59545011" "subst" "0" "02327" "TBX4_000046" "g.59545011T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950973" "0" "30" "17" "59560322" "59560322" "subst" "0.000647115" "02326" "TBX4_000036" "g.59560322G>C" "" "" "" "TBX4(NM_001321120.2):c.1086G>C (p.V362=), TBX4(NM_018488.3):c.1083G>C (p.V361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982669" "0" "50" "17" "59557487" "59557487" "subst" "7.35204E-5" "01804" "TBX4_000047" "g.59557487G>A" "" "" "" "TBX4(NM_001321120.2):c.828G>A (p.(Arg276=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003472" "0" "30" "17" "59533867" "59533867" "subst" "0.00104891" "01804" "TBX4_000007" "g.59533867G>A" "" "" "" "TBX4(NM_018488.2):c.16G>A (p.(Gly6Ser)), TBX4(NM_018488.3):c.16G>A (p.G6S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003473" "0" "30" "17" "59533936" "59533936" "subst" "0" "01804" "TBX4_000048" "g.59533936G>A" "" "" "" "TBX4(NM_018488.2):c.85G>A (p.(Ala29Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003474" "0" "90" "17" "59557320" "59557320" "subst" "0" "02327" "TBX4_000049" "g.59557320C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001003475" "0" "50" "17" "59560350" "59560350" "subst" "0" "01804" "TBX4_000050" "g.59560350C>T" "" "" "" "TBX4(NM_018488.2):c.1111C>T (p.(Pro371Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003476" "0" "50" "17" "59560384" "59560384" "subst" "4.06164E-5" "01804" "TBX4_000010" "g.59560384A>C" "" "" "" "TBX4(NM_018488.2):c.1145A>C (p.(Tyr382Ser)), TBX4(NM_018488.3):c.1145A>C (p.Y382S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003477" "0" "50" "17" "59560662" "59560662" "subst" "8.14113E-6" "01804" "TBX4_000051" "g.59560662A>C" "" "" "" "TBX4(NM_018488.2):c.1423A>C (p.(Asn475His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042037" "0" "30" "17" "59533842" "59533842" "subst" "0" "01804" "TBX4_000052" "g.59533842C>T" "" "" "" "TBX4(NM_001321120.2):c.-3-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042038" "0" "30" "17" "59533844" "59533844" "subst" "0" "01804" "TBX4_000053" "g.59533844C>T" "" "" "" "TBX4(NM_001321120.2):c.-3-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042039" "0" "50" "17" "59533894" "59533894" "subst" "0" "01804" "TBX4_000054" "g.59533894C>T" "" "" "" "TBX4(NM_001321120.2):c.43C>T (p.(Arg15Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042040" "0" "50" "17" "59534928" "59534928" "subst" "0" "01804" "TBX4_000055" "g.59534928G>A" "" "" "" "TBX4(NM_001321120.2):c.217G>A (p.(Glu73Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042041" "0" "50" "17" "59556051" "59556051" "subst" "0" "01804" "TBX4_000056" "g.59556051A>C" "" "" "" "TBX4(NM_001321120.2):c.613A>C (p.(Asn205His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042042" "0" "30" "17" "59557239" "59557239" "subst" "0" "01804" "TBX4_000034" "g.59557239C>T" "" "" "" "TBX4(NM_001321120.2):c.703-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056115" "0" "50" "17" "59544965" "59544965" "subst" "0" "01804" "TBX4_000057" "g.59544965G>A" "" "" "" "TBX4(NM_001321120.2):c.496G>A (p.(Val166Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066839" "0" "90" "17" "59560313" "59560313" "dup" "0" "02325" "TBX4_000058" "g.59560313dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 TBX4 ## Count = 63 "{{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}}" "0000169192" "00020855" "70" "1112" "0" "1112" "0" "c.1112dup" "r.(?)" "p.(Pro372Serfs*14)" "8" "0000169193" "00020855" "70" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250Trp)" "6" "0000169194" "00020855" "70" "1164" "0" "1164" "0" "c.1164dup" "r.(?)" "p.(Arg389Glnfs*30)" "8" "0000169195" "00020855" "70" "1062" "0" "1062" "0" "c.1062T>G" "r.(?)" "p.(Tyr354*)" "8" "0000169197" "00020855" "70" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Gln301*)" "7" "0000169200" "00020855" "70" "-45" "0" "401" "1" "c.(?_-45)_(401+1_402-1)del" "r.0?" "p.0?" "_1_3i" "0000249832" "00020855" "50" "1145" "0" "1145" "0" "c.1145A>C" "r.(?)" "p.(Tyr382Ser)" "" "0000311746" "00020855" "30" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Arg483Gln)" "" "0000311747" "00020855" "30" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Gly6Ser)" "" "0000311748" "00020855" "50" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Leu76Phe)" "" "0000311749" "00020855" "50" "401" "0" "401" "0" "c.401G>C" "r.(?)" "p.(Trp134Ser)" "" "0000336844" "00020855" "10" "792" "-18" "792" "-18" "c.792-18T>C" "r.(=)" "p.(=)" "" "0000338451" "00020855" "10" "402" "-8" "402" "-8" "c.402-8G>A" "r.(=)" "p.(=)" "" "0000340259" "00020855" "10" "276" "0" "276" "0" "c.276T>G" "r.(?)" "p.(Ala92=)" "" "0000340260" "00020855" "10" "1224" "0" "1224" "0" "c.1224C>T" "r.(?)" "p.(Asp408=)" "" "0000340261" "00020855" "10" "1446" "0" "1446" "0" "c.1446C>T" "r.(?)" "p.(Val482=)" "" "0000341365" "00020855" "10" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ala314Val)" "" "0000342420" "00020855" "90" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250Trp)" "" "0000346227" "00020855" "10" "17" "0" "17" "0" "c.17G>C" "r.(?)" "p.(Gly6Ala)" "" "0000347919" "00020855" "90" "287" "0" "287" "0" "c.287T>A" "r.(?)" "p.(Met96Lys)" "" "0000349885" "00020855" "70" "338" "0" "338" "0" "c.338A>G" "r.(?)" "p.(Tyr113Cys)" "" "0000562514" "00020855" "30" "104" "0" "104" "0" "c.104C>T" "r.(?)" "p.(Ala35Val)" "" "0000562515" "00020855" "30" "703" "-8" "703" "-8" "c.703-8C>T" "r.(=)" "p.(=)" "" "0000562516" "00020855" "50" "848" "0" "848" "0" "c.848A>G" "r.(?)" "p.(Gln283Arg)" "" "0000562517" "00020855" "90" "1164" "0" "1164" "0" "c.1164dup" "r.(?)" "p.(Arg389GlnfsTer30)" "" "0000562518" "00020855" "30" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Pro465Ser)" "" "0000562519" "00020855" "30" "1465" "0" "1465" "0" "c.1465G>A" "r.(?)" "p.(Ala489Thr)" "" "0000593793" "00020855" "70" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Glu400Lys)" "" "0000616725" "00020855" "30" "703" "-8" "703" "-8" "c.703-8C>T" "r.(=)" "p.(=)" "" "0000616726" "00020855" "90" "743" "0" "743" "0" "c.743G>T" "r.(?)" "p.(Gly248Val)" "" "0000616727" "00020855" "30" "1083" "0" "1083" "0" "c.1083G>C" "r.(?)" "p.(Val361=)" "" "0000623732" "00020855" "30" "703" "-3" "703" "-3" "c.703-3C>T" "r.spl?" "p.?" "" "0000624851" "00020855" "90" "339" "0" "339" "0" "c.339T>A" "r.0" "p.0" "" "0000624852" "00020855" "90" "379" "0" "379" "0" "c.379T>A" "r.(?)" "p.(Tyr127Asn)" "" "0000680947" "00020855" "50" "399" "0" "399" "0" "c.399A>T" "r.(?)" "p.(Lys133Asn)" "" "0000680948" "00020855" "30" "792" "-8" "792" "-8" "c.792-8C>A" "r.(=)" "p.(=)" "" "0000680949" "00020855" "50" "1349" "0" "1349" "0" "c.1349C>A" "r.(?)" "p.(Thr450Asn)" "" "0000808152" "00020855" "50" "1079" "0" "1079" "0" "c.1079C>T" "r.(?)" "p.(Ser360Leu)" "" "0000808153" "00020855" "50" "1349" "0" "1349" "0" "c.1349C>A" "r.(?)" "p.(Thr450Asn)" "" "0000855029" "00020855" "90" "524" "0" "527" "0" "c.524_527del" "r.(?)" "p.(Asn175Thrfs*52)" "" "0000855030" "00020855" "30" "1465" "0" "1465" "0" "c.1465G>A" "r.(?)" "p.(Ala489Thr)" "" "0000865395" "00020855" "50" "373" "0" "373" "0" "c.373C>A" "r.(?)" "p.(His125Asn)" "" "0000894077" "00020855" "90" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Arg340*)" "" "0000894078" "00020855" "90" "1260" "0" "1260" "0" "c.1260G>A" "r.(?)" "p.(Trp420*)" "" "0000894079" "00020855" "90" "1592" "0" "1592" "0" "c.1592A>G" "r.(?)" "p.(Gln531Arg)" "" "0000922448" "00020855" "90" "1018" "0" "1018" "0" "c.1018C>T" "r.1018c>u" "p.Arg340*" "" "0000926589" "00020855" "50" "542" "0" "542" "0" "c.542T>C" "r.(?)" "p.(Phe181Ser)" "" "0000950973" "00020855" "30" "1083" "0" "1083" "0" "c.1083G>C" "r.(?)" "p.(Val361=)" "" "0000982669" "00020855" "50" "828" "0" "828" "0" "c.828G>A" "r.(?)" "p.(=)" "" "0001003472" "00020855" "30" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Gly6Ser)" "" "0001003473" "00020855" "30" "85" "0" "85" "0" "c.85G>A" "r.(?)" "p.(Ala29Thr)" "" "0001003474" "00020855" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261*)" "" "0001003475" "00020855" "50" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Pro371Ser)" "" "0001003476" "00020855" "50" "1145" "0" "1145" "0" "c.1145A>C" "r.(?)" "p.(Tyr382Ser)" "" "0001003477" "00020855" "50" "1423" "0" "1423" "0" "c.1423A>C" "r.(?)" "p.(Asn475His)" "" "0001042037" "00020855" "30" "-10" "0" "-10" "0" "c.-10C>T" "r.(?)" "p.(=)" "" "0001042038" "00020855" "30" "-8" "0" "-8" "0" "c.-8C>T" "r.(?)" "p.(=)" "" "0001042039" "00020855" "50" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Arg15Trp)" "" "0001042040" "00020855" "50" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Glu73Lys)" "" "0001042041" "00020855" "50" "613" "0" "613" "0" "c.613A>C" "r.(?)" "p.(Asn205His)" "" "0001042042" "00020855" "30" "703" "-3" "703" "-3" "c.703-3C>T" "r.spl?" "p.?" "" "0001056115" "00020855" "50" "496" "0" "496" "0" "c.496G>A" "r.(?)" "p.(Val166Ile)" "" "0001066839" "00020855" "90" "1074" "0" "1074" "0" "c.1074dup" "r.(?)" "p.(Ser359Leufs*27)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000104449" "0000169192" "0000104450" "0000169193" "0000104451" "0000169194" "0000104452" "0000169195" "0000104454" "0000169197" "0000104459" "0000169200" "0000263201" "0000593793" "0000271013" "0000624851" "0000271014" "0000624852" "0000436107" "0000922448"