### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TBX3) # 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}}" "TBX3" "T-box 3" "12" "q24.1" "unknown" "NG_008315.1" "UD_132118338290" "" "https://www.LOVD.nl/TBX3" "" "1" "11602" "6926" "601621" "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/TBX3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-08 09:24:55" "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}}" "00020854" "TBX3" "transcript variant 2" "002" "NM_016569.3" "" "NP_057653.3" "" "" "" "-964" "3819" "2232" "115121969" "115108059" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "00706" "UMS" "Ulnar-mammary syndrome (UMS)" "AD" "181450" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TBX3" "00706" ## 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}}" "00290609" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290610" "" "" "" "171" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304330" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00453269" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam390Pat424" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00290609" "00198" "00290610" "00198" "00304330" "00198" "00453269" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00706, 04172 ## Count = 1 "{{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}}" "0000341915" "04172" "00453269" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" ## 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}}" "0000291777" "00290609" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291778" "00290610" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305459" "00304330" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000454880" "00453269" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 64 "{{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}}" "0000251150" "0" "10" "12" "115112554" "115112554" "subst" "0.0070069" "02326" "TBX3_000003" "g.115112554A>T" "" "" "" "TBX3(NM_005996.4):c.1126T>A (p.(Ser376Thr)), TBX3(NM_016569.4):c.1186T>A (p.S396T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114674749A>T" "" "benign" "" "0000313253" "0" "50" "12" "115120729" "115120729" "subst" "0" "02329" "TBX3_000007" "g.115120729T>C" "" "" "" "TBX3(NM_016569.4):c.277A>G (p.M93V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114682924T>C" "" "VUS" "" "0000314449" "0" "10" "12" "115112586" "115112586" "subst" "0.00207416" "02326" "TBX3_000005" "g.115112586T>C" "" "" "" "TBX3(NM_005996.3):c.1094A>G (p.(His365Arg)), TBX3(NM_016569.4):c.1154A>G (p.H385R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114674781T>C" "" "benign" "" "0000323107" "0" "30" "12" "115110035" "115110035" "subst" "0.000471428" "01804" "TBX3_000002" "g.115110035A>C" "" "" "" "TBX3(NM_005996.3):c.1783T>G (p.(Ser595Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114672230A>C" "" "likely benign" "" "0000323108" "0" "50" "12" "115112565" "115112565" "subst" "0" "01804" "TBX3_000004" "g.115112565G>A" "" "" "" "TBX3(NM_005996.3):c.1115C>T (p.(Ala372Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114674760G>A" "" "VUS" "" "0000337027" "0" "10" "12" "115121034" "115121034" "subst" "0.00995988" "02327" "TBX3_000018" "g.115121034C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114683229C>A" "" "benign" "" "0000339307" "0" "10" "12" "115112507" "115112507" "subst" "0.0172897" "02327" "TBX3_000010" "g.115112507C>G" "" "" "" "TBX3(NM_005996.4):c.1173G>C (p.(Ala391=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114674702C>G" "" "benign" "" "0000339308" "0" "10" "12" "115117337" "115117337" "subst" "0.0116338" "02327" "TBX3_000015" "g.115117337G>A" "" "" "" "TBX3(NM_005996.4):c.777C>T (p.(Ile259=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114679532G>A" "" "benign" "" "0000342603" "0" "90" "12" "115115398" "115115398" "subst" "4.06144E-6" "02327" "TBX3_000013" "g.115115398G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114677593G>A" "" "pathogenic" "" "0000343695" "0" "50" "12" "115115437" "115115437" "subst" "0" "02327" "TBX3_000014" "g.115115437T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114677632T>G" "" "VUS" "" "0000344633" "0" "90" "12" "115118755" "115118755" "subst" "0" "02327" "TBX3_000016" "g.115118755G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114680950G>A" "" "pathogenic" "" "0000344758" "0" "90" "12" "115114271" "115114271" "subst" "0" "02327" "TBX3_000012" "g.115114271G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114676466G>A" "" "pathogenic" "" "0000350724" "0" "90" "12" "115111969" "115111969" "subst" "0" "02327" "TBX3_000008" "g.115111969C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114674164C>T" "" "pathogenic" "" "0000546703" "0" "30" "12" "115109656" "115109656" "subst" "0" "01804" "TBX3_000019" "g.115109656G>A" "" "" "" "TBX3(NM_005996.3):c.2162C>T (p.(Ala721Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114671851G>A" "" "likely benign" "" "0000546704" "0" "30" "12" "115109657" "115109657" "subst" "7.68915E-5" "01804" "TBX3_000020" "g.115109657C>G" "" "" "" "TBX3(NM_005996.3):c.2161G>C (p.(Ala721Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114671852C>G" "" "likely benign" "" "0000546705" "0" "30" "12" "115109987" "115109987" "subst" "0.000158421" "01804" "TBX3_000021" "g.115109987G>T" "" "" "" "TBX3(NM_005996.3):c.1831C>A (p.(Leu611Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114672182G>T" "" "likely benign" "" "0000546706" "0" "30" "12" "115110087" "115110087" "subst" "3.1582E-5" "02327" "TBX3_000022" "g.115110087G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114672282G>C" "" "likely benign" "" "0000546709" "0" "10" "12" "115112218" "115112218" "subst" "0" "02326" "TBX3_000025" "g.115112218C>T" "" "" "" "TBX3(NM_016569.4):c.1522G>A (p.A508T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114674413C>T" "" "benign" "" "0000546710" "0" "10" "12" "115112444" "115112444" "subst" "0.00745727" "01943" "TBX3_000026" "g.115112444C>A" "" "" "" "TBX3(NM_016569.3):c.1296G>T (p.S432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114674639C>A" "" "benign" "" "0000546711" "0" "50" "12" "115112461" "115112461" "subst" "0" "01804" "TBX3_000027" "g.115112461G>A" "" "" "" "TBX3(NM_005996.4):c.1219C>T (p.(Arg407Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114674656G>A" "" "VUS" "" "0000546712" "0" "90" "12" "115114116" "115114116" "subst" "0" "02327" "TBX3_000028" "g.115114116A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114676311A>G" "" "pathogenic" "" "0000546713" "0" "90" "12" "115114229" "115114229" "del" "0" "02329" "TBX3_000029" "g.115114229del" "" "" "" "TBX3(NM_016569.4):c.992delA (p.K331Rfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114676424del" "" "pathogenic" "" "0000546714" "0" "30" "12" "115117337" "115117337" "subst" "0.0116338" "01804" "TBX3_000015" "g.115117337G>A" "" "" "" "TBX3(NM_005996.4):c.777C>T (p.(Ile259=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114679532G>A" "" "likely benign" "" "0000546716" "0" "50" "12" "115120636" "115120636" "subst" "0" "01943" "TBX3_000031" "g.115120636C>T" "" "" "" "TBX3(NM_016569.3):c.370G>A (p.V124I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114682831C>T" "" "VUS" "" "0000546717" "0" "30" "12" "115120725" "115120725" "subst" "0.000142308" "01804" "TBX3_000032" "g.115120725T>C" "" "" "" "TBX3(NM_005996.3):c.281A>G (p.(Glu94Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114682920T>C" "" "likely benign" "" "0000546719" "0" "30" "12" "115120995" "115120995" "subst" "8.27123E-6" "01804" "TBX3_000034" "g.115120995G>A" "" "" "" "TBX3(NM_005996.3):c.11C>T (p.(Ser4Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114683190G>A" "" "likely benign" "" "0000648466" "1" "10" "12" "115112554" "115112554" "subst" "0.0070069" "03575" "TBX3_000003" "g.115112554A>T" "1/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs78115331}" "Germline" "" "rs78115331" "0" "" "" "g.114674749A>T" "" "benign" "" "0000648467" "1" "10" "12" "115121732" "115121732" "subst" "0" "03575" "TBX3_000035" "g.115121732A>G" "171/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "171 heterozygous; {DB:CLININrs36203374}" "Germline" "" "rs36203374" "0" "" "" "g.114683927A>G" "" "benign" "" "0000657003" "0" "50" "12" "115112226" "115112226" "subst" "0" "01943" "TBX3_000036" "g.115112226G>A" "" "" "" "TBX3(NM_016569.3):c.1514C>T (p.P505L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114674421G>A" "" "VUS" "" "0000669147" "3" "10" "12" "115121732" "115121732" "subst" "0" "03575" "TBX3_000035" "g.115121732A>G" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs36203374}" "Germline" "" "rs36203374" "0" "" "" "g.114683927A>G" "" "benign" "" "0000691254" "0" "30" "12" "115109928" "115109928" "subst" "4.10528E-5" "01943" "TBX3_000037" "g.115109928C>T" "" "" "" "TBX3(NM_016569.3):c.1950G>A (p.P650=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691255" "0" "30" "12" "115110060" "115110060" "subst" "0" "01943" "TBX3_000038" "g.115110060C>A" "" "" "" "TBX3(NM_016569.3):c.1818G>T (p.T606=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723852" "0" "30" "12" "115118955" "115118955" "subst" "5.69828E-5" "02330" "TBX3_000006" "g.115118955T>C" "" "" "" "TBX3(NM_016569.4):c.390-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723853" "0" "50" "12" "115120824" "115120824" "subst" "0" "02330" "TBX3_000033" "g.115120824G>T" "" "" "" "TBX3(NM_016569.4):c.182C>A (p.A61D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862818" "0" "30" "12" "115112055" "115112055" "subst" "0.00140531" "01804" "TBX3_000039" "g.115112055G>A" "" "" "" "TBX3(NM_005996.3):c.1625C>T (p.(Ala542Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890290" "0" "50" "12" "115109965" "115109965" "subst" "0" "01804" "TBX3_000040" "g.115109965A>T" "" "" "" "TBX3(NM_005996.3):c.1853T>A (p.(Leu618Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890291" "0" "50" "12" "115110041" "115110041" "subst" "0" "02327" "TBX3_000041" "g.115110041C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890292" "0" "70" "12" "115117458" "115117458" "subst" "0" "01804" "TBX3_000042" "g.115117458T>C" "" "" "" "TBX3(NM_016569.3):c.718-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913759" "0" "50" "12" "115110061" "115110061" "subst" "0" "02325" "TBX3_000043" "g.115110061G>A" "" "" "" "TBX3(NM_005996.4):c.1757C>T (p.T586M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913760" "0" "30" "12" "115112586" "115112586" "subst" "0.00207416" "01804" "TBX3_000005" "g.115112586T>C" "" "" "" "TBX3(NM_005996.3):c.1094A>G (p.(His365Arg)), TBX3(NM_016569.4):c.1154A>G (p.H385R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913761" "0" "30" "12" "115120940" "115120940" "subst" "0" "02326" "TBX3_000044" "g.115120940A>G" "" "" "" "TBX3(NM_005996.4):c.66T>C (p.P22=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925544" "0" "30" "12" "115117414" "115117414" "subst" "0.000166483" "02325" "TBX3_000045" "g.115117414T>C" "" "" "" "TBX3(NM_005996.4):c.700A>G (p.I234V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980038" "0" "30" "12" "115109800" "115109800" "subst" "0" "01804" "TBX3_000046" "g.115109800T>C" "" "" "" "TBX3(NM_005996.4):c.2018A>G (p.(Asn673Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980039" "0" "30" "12" "115112430" "115112430" "subst" "0.000230871" "01804" "TBX3_000047" "g.115112430T>C" "" "" "" "TBX3(NM_005996.4):c.1250A>G (p.(His417Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980040" "0" "30" "12" "115112507" "115112507" "subst" "0.0172897" "01804" "TBX3_000010" "g.115112507C>G" "" "" "" "TBX3(NM_005996.4):c.1173G>C (p.(Ala391=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980041" "0" "10" "12" "115112554" "115112554" "subst" "0.0070069" "01804" "TBX3_000003" "g.115112554A>T" "" "" "" "TBX3(NM_005996.4):c.1126T>A (p.(Ser376Thr)), TBX3(NM_016569.4):c.1186T>A (p.S396T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000980042" "0" "30" "12" "115120909" "115120909" "subst" "0.00022341" "01804" "TBX3_000048" "g.115120909C>A" "" "" "" "TBX3(NM_005996.4):c.97G>T (p.(Val33Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000989781" "0" "50" "12" "115117354" "115117354" "subst" "4.06062E-6" "02515" "TBX3_000049" "g.115117354G>A" "" "Fusco 2042, submitted" "" "NM_005996:c.820C>T" "variant not definitively linked to disease; authors confirmed variant reported should be NM_005996:c.760C>T" "Germline" "" "rs779500081" "0" "" "" "g.114679549G>A" "" "VUS" "" "0000999679" "0" "50" "12" "115109665" "115109665" "subst" "6.30191E-6" "01804" "TBX3_000050" "g.115109665G>A" "" "" "" "TBX3(NM_005996.3):c.2153C>T (p.(Ser718Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999680" "0" "30" "12" "115109773" "115109773" "subst" "3.19673E-5" "01804" "TBX3_000051" "g.115109773C>T" "" "" "" "TBX3(NM_005996.3):c.2045G>A (p.(Ser682Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999681" "0" "30" "12" "115110046" "115110046" "subst" "0" "01804" "TBX3_000052" "g.115110046G>T" "" "" "" "TBX3(NM_005996.3):c.1772C>A (p.(Ala591Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999682" "0" "50" "12" "115110056" "115110056" "subst" "5.83887E-6" "02325" "TBX3_000053" "g.115110056T>C" "" "" "" "TBX3(NM_005996.4):c.1762A>G (p.M588V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999683" "0" "30" "12" "115112196" "115112196" "subst" "0" "01804" "TBX3_000054" "g.115112196C>T" "" "" "" "TBX3(NM_005996.3):c.1484G>A (p.(Gly495Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999684" "0" "50" "12" "115112286" "115112286" "subst" "0" "01804" "TBX3_000055" "g.115112286T>C" "" "" "" "TBX3(NM_005996.3):c.1394A>G (p.(Gln465Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999685" "0" "30" "12" "115112362" "115112362" "subst" "0" "01804" "TBX3_000056" "g.115112362C>T" "" "" "" "TBX3(NM_005996.3):c.1318G>A (p.(Glu440Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999686" "0" "50" "12" "115112448" "115112448" "subst" "0" "01804" "TBX3_000057" "g.115112448G>A" "" "" "" "TBX3(NM_005996.3):c.1232C>T (p.(Ala411Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999687" "0" "50" "12" "115114249" "115114249" "subst" "0" "02325" "TBX3_000058" "g.115114249C>T" "" "" "" "TBX3(NM_005996.4):c.908G>A (p.R303K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038973" "0" "30" "12" "115112140" "115112140" "subst" "4.48126E-5" "01804" "TBX3_000059" "g.115112140T>C" "" "" "" "TBX3(NM_005996.4):c.1540A>G (p.(Met514Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038974" "0" "50" "12" "115112355" "115112355" "subst" "0" "01804" "TBX3_000060" "g.115112355G>C" "" "" "" "TBX3(NM_005996.4):c.1325C>G (p.(Thr442Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038975" "0" "50" "12" "115112370" "115112370" "subst" "0" "01804" "TBX3_000061" "g.115112370G>C" "" "" "" "TBX3(NM_005996.4):c.1310C>G (p.(Pro437Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038976" "0" "30" "12" "115117379" "115117379" "subst" "1.21826E-5" "01804" "TBX3_000062" "g.115117379A>G" "" "" "" "TBX3(NM_005996.4):c.735T>C (p.(Tyr245=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038977" "0" "30" "12" "115118722" "115118722" "subst" "0.00406547" "01804" "TBX3_000063" "g.115118722G>A" "" "" "" "TBX3(NM_005996.4):c.619C>T (p.(Leu207=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038978" "0" "10" "12" "115120945" "115120945" "subst" "0.00606693" "01804" "TBX3_000064" "g.115120945G>A" "" "" "" "TBX3(NM_005996.4):c.61C>T (p.(Leu21=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001038979" "0" "50" "12" "115120992" "115120992" "dup" "0" "01804" "TBX3_000065" "g.115120992dup" "" "" "" "TBX3(NM_005996.4):c.14dup (p.(Met5Ilefs*106))" "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 TBX3 ## Count = 64 "{{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}}" "0000251150" "00020854" "10" "1186" "0" "1186" "0" "c.1186T>A" "r.(?)" "p.(Ser396Thr)" "" "0000313253" "00020854" "50" "277" "0" "277" "0" "c.277A>G" "r.(?)" "p.(Met93Val)" "" "0000314449" "00020854" "10" "1154" "0" "1154" "0" "c.1154A>G" "r.(?)" "p.(His385Arg)" "" "0000323107" "00020854" "30" "1843" "0" "1843" "0" "c.1843T>G" "r.(?)" "p.(Ser615Ala)" "" "0000323108" "00020854" "50" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Ala392Val)" "" "0000337027" "00020854" "10" "-29" "0" "-29" "0" "c.-29G>T" "r.(?)" "p.(=)" "" "0000339307" "00020854" "10" "1233" "0" "1233" "0" "c.1233G>C" "r.(?)" "p.(Ala411=)" "" "0000339308" "00020854" "10" "837" "0" "837" "0" "c.837C>T" "r.(?)" "p.(Ile279=)" "" "0000342603" "00020854" "90" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Arg310Ter)" "" "0000343695" "00020854" "50" "889" "0" "889" "0" "c.889A>C" "r.(?)" "p.(Asn297His)" "" "0000344633" "00020854" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Gln196Ter)" "" "0000344758" "00020854" "90" "946" "0" "946" "0" "c.946C>T" "r.(?)" "p.(Gln316Ter)" "" "0000350724" "00020854" "90" "1770" "1" "1770" "1" "c.1770+1G>A" "r.spl?" "p.?" "" "0000546703" "00020854" "30" "2222" "0" "2222" "0" "c.2222C>T" "r.(?)" "p.(Ala741Val)" "" "0000546704" "00020854" "30" "2221" "0" "2221" "0" "c.2221G>C" "r.(?)" "p.(Ala741Pro)" "" "0000546705" "00020854" "30" "1891" "0" "1891" "0" "c.1891C>A" "r.(?)" "p.(Leu631Met)" "" "0000546706" "00020854" "30" "1791" "0" "1791" "0" "c.1791C>G" "r.(?)" "p.(Phe597Leu)" "" "0000546709" "00020854" "10" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Ala508Thr)" "" "0000546710" "00020854" "10" "1296" "0" "1296" "0" "c.1296G>T" "r.(?)" "p.(Ser432=)" "" "0000546711" "00020854" "50" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Trp)" "" "0000546712" "00020854" "90" "1099" "2" "1099" "2" "c.1099+2T>C" "r.spl?" "p.?" "" "0000546713" "00020854" "90" "992" "0" "992" "0" "c.992del" "r.(?)" "p.(Lys331ArgfsTer30)" "" "0000546714" "00020854" "30" "837" "0" "837" "0" "c.837C>T" "r.(?)" "p.(Ile279=)" "" "0000546716" "00020854" "50" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Val124Ile)" "" "0000546717" "00020854" "30" "281" "0" "281" "0" "c.281A>G" "r.(?)" "p.(Glu94Gly)" "" "0000546719" "00020854" "30" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(Ser4Phe)" "" "0000648466" "00020854" "10" "1186" "0" "1186" "0" "c.1186T>A" "r.(?)" "p.(Ser396Thr)" "" "0000648467" "00020854" "10" "-727" "0" "-727" "0" "c.-727T>C" "r.(=)" "p.(=)" "" "0000657003" "00020854" "50" "1514" "0" "1514" "0" "c.1514C>T" "r.(?)" "p.(Pro505Leu)" "" "0000669147" "00020854" "10" "-727" "0" "-727" "0" "c.-727T>C" "r.(=)" "p.(=)" "" "0000691254" "00020854" "30" "1950" "0" "1950" "0" "c.1950G>A" "r.(?)" "p.(Pro650=)" "" "0000691255" "00020854" "30" "1818" "0" "1818" "0" "c.1818G>T" "r.(?)" "p.(Thr606=)" "" "0000723852" "00020854" "30" "390" "-4" "390" "-4" "c.390-4A>G" "r.spl?" "p.?" "" "0000723853" "00020854" "50" "182" "0" "182" "0" "c.182C>A" "r.(?)" "p.(Ala61Asp)" "" "0000862818" "00020854" "30" "1685" "0" "1685" "0" "c.1685C>T" "r.(?)" "p.(Ala562Val)" "" "0000890290" "00020854" "50" "1913" "0" "1913" "0" "c.1913T>A" "r.(?)" "p.(Leu638Gln)" "" "0000890291" "00020854" "50" "1837" "0" "1837" "0" "c.1837G>C" "r.(?)" "p.(Ala613Pro)" "" "0000890292" "00020854" "70" "718" "-2" "718" "-2" "c.718-2A>G" "r.spl?" "p.?" "" "0000913759" "00020854" "50" "1817" "0" "1817" "0" "c.1817C>T" "r.(?)" "p.(Thr606Met)" "" "0000913760" "00020854" "30" "1154" "0" "1154" "0" "c.1154A>G" "r.(?)" "p.(His385Arg)" "" "0000913761" "00020854" "30" "66" "0" "66" "0" "c.66T>C" "r.(?)" "p.(Pro22=)" "" "0000925544" "00020854" "30" "760" "0" "760" "0" "c.760A>G" "r.(?)" "p.(Ile254Val)" "" "0000980038" "00020854" "30" "2078" "0" "2078" "0" "c.2078A>G" "r.(?)" "p.(Asn693Ser)" "" "0000980039" "00020854" "30" "1310" "0" "1310" "0" "c.1310A>G" "r.(?)" "p.(His437Arg)" "" "0000980040" "00020854" "30" "1233" "0" "1233" "0" "c.1233G>C" "r.(?)" "p.(Ala411=)" "" "0000980041" "00020854" "10" "1186" "0" "1186" "0" "c.1186T>A" "r.(?)" "p.(Ser396Thr)" "" "0000980042" "00020854" "30" "97" "0" "97" "0" "c.97G>T" "r.(?)" "p.(Val33Leu)" "" "0000989781" "00020854" "50" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Pro274Ser)" "" "0000999679" "00020854" "50" "2213" "0" "2213" "0" "c.2213C>T" "r.(?)" "p.(Ser738Phe)" "" "0000999680" "00020854" "30" "2105" "0" "2105" "0" "c.2105G>A" "r.(?)" "p.(Ser702Asn)" "" "0000999681" "00020854" "30" "1832" "0" "1832" "0" "c.1832C>A" "r.(?)" "p.(Ala611Glu)" "" "0000999682" "00020854" "50" "1822" "0" "1822" "0" "c.1822A>G" "r.(?)" "p.(Met608Val)" "" "0000999683" "00020854" "30" "1544" "0" "1544" "0" "c.1544G>A" "r.(?)" "p.(Gly515Glu)" "" "0000999684" "00020854" "50" "1454" "0" "1454" "0" "c.1454A>G" "r.(?)" "p.(Gln485Arg)" "" "0000999685" "00020854" "30" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Glu460Lys)" "" "0000999686" "00020854" "50" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Ala431Val)" "" "0000999687" "00020854" "50" "968" "0" "968" "0" "c.968G>A" "r.(?)" "p.(Arg323Lys)" "" "0001038973" "00020854" "30" "1600" "0" "1600" "0" "c.1600A>G" "r.(?)" "p.(Met534Val)" "" "0001038974" "00020854" "50" "1385" "0" "1385" "0" "c.1385C>G" "r.(?)" "p.(Thr462Arg)" "" "0001038975" "00020854" "50" "1370" "0" "1370" "0" "c.1370C>G" "r.(?)" "p.(Pro457Arg)" "" "0001038976" "00020854" "30" "795" "0" "795" "0" "c.795T>C" "r.(?)" "p.(=)" "" "0001038977" "00020854" "30" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(=)" "" "0001038978" "00020854" "10" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(=)" "" "0001038979" "00020854" "50" "14" "0" "14" "0" "c.14dup" "r.(?)" "p.(Met5Ilefs*106)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000291777" "0000648466" "0000291778" "0000648467" "0000305459" "0000669147" "0000454880" "0000989781"