### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TBX2) # 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}}" "TBX2" "T-box 2" "17" "q23.2" "unknown" "NC_000017.10" "UD_132465634813" "" "https://www.LOVD.nl/TBX2" "" "1" "11597" "6909" "600747" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-12-27 14:05:49" "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}}" "00020853" "TBX2" "T-box 2" "001" "NM_005994.3" "" "NP_005985.3" "" "" "" "-281" "3099" "2139" "59477257" "59486827" "" "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}}" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "06365" "VETD" "Vertebral anomalies and variable endocrine and T-cell dysfunction" "AD" "618223" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TBX2" "05086" "TBX2" "06365" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00438655" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0389" "00471517" "" "" "" "38" "" "00006" "{PMID:Hua 2025:40962492}" "5-generation family, 38 affected (22F, 16M)" "F" "" "China" "" "0" "" "" "" "Fam1PatIII2" "00471518" "" "" "00471517" "1" "" "00006" "{PMID:Hua 2025:40962492}" "brother" "M" "" "China" "" "0" "" "" "" "Fam1PatIII7" "00471519" "" "" "00471517" "1" "" "00006" "{PMID:Hua 2025:40962492}" "relative" "F" "" "China" "" "0" "" "" "" "Fam1PatIII12" "00471520" "" "" "00471517" "1" "" "00006" "{PMID:Hua 2025:40962492}" "relative" "M" "" "China" "" "0" "" "" "" "Fam1PatIV11" "00471521" "" "" "00471517" "1" "" "00006" "{PMID:Hua 2025:40962492}" "relative" "F" "" "China" "" "0" "" "" "" "Fam1PatIV14" "00471522" "" "" "00471517" "1" "" "00006" "{PMID:Hua 2025:40962492}" "relative" "F" "" "China" "" "0" "" "" "" "Fam1PatIV16" "00471523" "" "" "00471517" "1" "" "00006" "{PMID:Hua 2025:40962492}" "relative" "F" "" "China" "" "0" "" "" "" "Fam1PatIV19" "00471524" "" "" "00471517" "1" "" "00006" "{PMID:Hua 2025:40962492}" "relative" "F" "" "China" "" "0" "" "" "" "Fam1PatIV22" "00471525" "" "" "00471517" "1" "" "00006" "{PMID:Hua 2025:40962492}" "relative" "F" "" "China" "" "0" "" "" "" "Fam1PatIV23" "00471526" "" "" "00471517" "1" "" "00006" "{PMID:Hua 2025:40962492}" "relative" "M" "" "China" "" "0" "" "" "" "Fam1PatIV27" "00471527" "" "" "00471517" "1" "" "00006" "{PMID:Hua 2025:40962492}" "relative" "M" "" "China" "" "0" "" "" "" "Fam1PatIV31" "00471528" "" "" "00471517" "1" "" "00006" "{PMID:Hua 2025:40962492}" "relative" "M" "" "China" "" "0" "" "" "" "Fam1PatIV36" "00471529" "" "" "00471517" "1" "" "00006" "{PMID:Hua 2025:40962492}" "relative" "F" "" "China" "" "0" "" "" "" "Fam1PatV11" "00471530" "" "" "00471517" "1" "" "00006" "{PMID:Hua 2025:40962492}" "relative" "M" "" "China" "" "0" "" "" "" "Fam1PatV14" "00471531" "" "" "00471517" "1" "" "00006" "{PMID:Hua 2025:40962492}" "relative" "M" "" "China" "" "0" "" "" "" "Fam1PatV18" "00471532" "" "" "00471517" "1" "" "00006" "{PMID:Hua 2025:40962492}" "relative" "F" "" "China" "" "0" "" "" "" "Fam1PatV19" "00471533" "" "" "00471517" "1" "" "00006" "{PMID:Hua 2025:40962492}" "relative" "M" "" "China" "" "0" "" "" "" "Fam1PatV20" "00471534" "" "" "00471517" "1" "" "00006" "{PMID:Hua 2025:40962492}" "relative" "F" "" "China" "" "0" "" "" "" "Fam1PatV22" "00471535" "" "" "00471517" "1" "" "00006" "{PMID:Hua 2025:40962492}" "relative" "F" "" "China" "" "0" "" "" "" "Fam1PatV23" "00471536" "" "" "00471517" "1" "" "00006" "{PMID:Hua 2025:40962492}" "relative" "M" "" "China" "" "0" "" "" "" "Fam1PatV24" "00471537" "" "" "" "4" "" "00006" "{PMID:Hua 2025:40962492}" "3-generation family, 4 affected (4F)" "F" "" "China" "" "0" "" "" "" "Fam2PatII6" "00471538" "" "" "00471537" "1" "" "00006" "{PMID:Hua 2025:40962492}" "daugther" "F" "" "China" "" "0" "" "" "" "Fam2PatIII6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00438655" "06906" "00471517" "05086" "00471518" "05086" "00471519" "05086" "00471520" "05086" "00471521" "05086" "00471522" "05086" "00471523" "05086" "00471524" "05086" "00471525" "05086" "00471526" "05086" "00471527" "05086" "00471528" "05086" "00471529" "05086" "00471530" "05086" "00471531" "05086" "00471532" "05086" "00471533" "05086" "00471534" "05086" "00471535" "05086" "00471536" "05086" "00471537" "05086" "00471538" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05086, 06365, 06906 ## Count = 23 "{{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}}" "0000328558" "06906" "00438655" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000356324" "05086" "00471517" "00006" "Familial, autosomal dominant" "60y-69y" "see paper; ..., 10-19y-moderate hearing loss; no nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356325" "05086" "00471518" "00006" "Familial, autosomal dominant" "60y-69y" "see paper; ..., 0-9y-moderate hearing loss; no nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356326" "05086" "00471519" "00006" "Familial, autosomal dominant" "70y-79y" "see paper; ..., 0-9y-moderate hearing loss; no nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356327" "05086" "00471520" "00006" "Familial, autosomal dominant" "40y-49y" "see paper; ..., 0-9y-moderate hearing loss; no nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356328" "05086" "00471521" "00006" "Familial, autosomal dominant" "40y-49y" "see paper; ..., 10-19y-moderate hearing loss; no nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356329" "05086" "00471522" "00006" "Familial, autosomal dominant" "30y-39y" "see paper; ..., 10-19y-moderate hearing loss; no nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356330" "05086" "00471523" "00006" "Familial, autosomal dominant" "30y-39y" "see paper; ..., 30s-moderate hearing loss; no nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356331" "05086" "00471524" "00006" "Familial, autosomal dominant" "30y-39y" "see paper; ..., 20s-moderate hearing loss; <9y-nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356332" "05086" "00471525" "00006" "Familial, autosomal dominant" "30y-39y" "see paper; ..., 10-19y-moderate hearing loss; <9y-nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356333" "05086" "00471526" "00006" "Familial, autosomal dominant" "10y-19y" "see paper; ..., 10-19y-moderate hearing loss; <9y-nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356334" "05086" "00471527" "00006" "Familial, autosomal dominant" "20y-29y" "see paper; ..., 0-9y-moderate hearing loss; <9y-nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356335" "05086" "00471528" "00006" "Familial, autosomal dominant" "50y-59y" "see paper; ..., 40s-moderate hearing loss; <9y-nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356336" "05086" "00471529" "00006" "Familial, autosomal dominant" "0y-9y" "see paper; ..., 0-9y-mild hearing loss; no nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356337" "05086" "00471530" "00006" "Familial, autosomal dominant" "0y-9y" "see paper; ..., 0-9y-moderate hearing loss; no nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356338" "05086" "00471531" "00006" "Familial, autosomal dominant" "10y-19y" "see paper; ..., 0-9y-moderate hearing loss; no nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356339" "05086" "00471532" "00006" "Familial, autosomal dominant" "10y-19y" "see paper; ..., 10-19y-mild hearing loss; no nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356340" "05086" "00471533" "00006" "Familial, autosomal dominant" "10y-19y" "see paper; ..., 10-19y-mild hearing loss; <9y-nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356341" "05086" "00471534" "00006" "Familial, autosomal dominant" "10y-19y" "see paper; ..., 10-19y-mild hearing loss; <9y-nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356342" "05086" "00471535" "00006" "Familial, autosomal dominant" "0y-9y" "see paper; ..., 0-9y-moderate hearing loss; no nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356343" "05086" "00471536" "00006" "Familial, autosomal dominant" "0y-9y" "see paper; ..., 0-9y-mild hearing loss; no nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356344" "05086" "00471537" "00006" "Familial, autosomal dominant" "30y-39y" "see paper; ..., 30s-mild hearing loss; <9y-nystagmus" "" "" "" "" "" "" "" "" "hearing loss" "0000356345" "05086" "00471538" "00006" "Familial, autosomal dominant" "0y-9y" "see paper; ..., 0-9y-moderate hearing loss; no nystagmus" "" "" "" "" "" "" "" "" "hearing loss" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000440137" "00438655" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473187" "00471517" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473188" "00471518" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473189" "00471519" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473190" "00471520" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473191" "00471521" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473192" "00471522" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473193" "00471523" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473194" "00471524" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473195" "00471525" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473196" "00471526" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473197" "00471527" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473198" "00471528" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473199" "00471529" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473200" "00471530" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473201" "00471531" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473202" "00471532" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473203" "00471533" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473204" "00471534" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473205" "00471535" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473206" "00471536" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473207" "00471537" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473208" "00471538" "1" "00006" "00006" "2025-12-27 14:05:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## 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 = 43 "{{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}}" "0000562508" "0" "50" "17" "59479060" "59479060" "del" "0" "02327" "TBX2_000001" "g.59479060del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61401699del" "" "VUS" "" "0000562511" "0" "30" "17" "59482065" "59482065" "subst" "0.00158361" "02325" "TBX2_000004" "g.59482065C>A" "" "" "" "TBX2(NM_005994.4):c.986C>A (p.P329H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61404704C>A" "" "likely benign" "" "0000562512" "0" "30" "17" "59485758" "59485758" "subst" "0.00779971" "01804" "C17orf82_000001" "g.59485758C>T" "" "" "" "TBX2(NM_005994.3):c.2030C>T (p.(Pro677Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61408397C>T" "" "likely benign" "" "0000680946" "0" "50" "17" "59482032" "59482032" "subst" "9.25484E-5" "02325" "TBX2_000005" "g.59482032C>A" "" "" "" "TBX2(NM_005994.4):c.953C>A (p.A318E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692418" "0" "50" "17" "59479120" "59479120" "subst" "8.13868E-6" "02325" "TBX2_000006" "g.59479120T>G" "" "" "" "TBX2(NM_005994.4):c.471T>G (p.I157M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726558" "0" "50" "17" "59482664" "59482664" "subst" "0" "02329" "TBX2_000007" "g.59482664G>T" "" "" "" "TBX2(NM_005994.4):c.1153G>T (p.A385S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855028" "0" "50" "17" "59482122" "59482122" "subst" "0" "02325" "TBX2_000008" "g.59482122G>C" "" "" "" "TBX2(NM_005994.4):c.1043G>C (p.R348P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000936430" "0" "50" "17" "59477668" "59477668" "subst" "0" "00006" "TBX2_000009" "g.59477668C>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_005994:c.C131T (P44L)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000950972" "0" "30" "17" "59489879" "59489885" "del" "0" "01804" "C17orf82_000003" "g.59489879_59489885del" "" "" "" "C17orf82(NM_203425.1):c.543_549del (p.(Pro182Asnfs*29))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982668" "0" "30" "17" "59483205" "59483205" "subst" "0" "01804" "TBX2_000010" "g.59483205C>T" "" "" "" "TBX2(NM_005994.4):c.1686+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003468" "0" "50" "17" "59477728" "59477728" "subst" "0" "01804" "TBX2_000011" "g.59477728C>T" "" "" "" "TBX2(NM_005994.3):c.191C>T (p.(Ala64Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003469" "0" "50" "17" "59480504" "59480504" "subst" "6.91152E-5" "01804" "TBX2_000012" "g.59480504C>T" "" "" "" "TBX2(NM_005994.3):c.746C>T (p.(Thr249Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003470" "0" "50" "17" "59481992" "59481992" "subst" "4.55805E-5" "01804" "TBX2_000013" "g.59481992C>A" "" "" "" "TBX2(NM_005994.3):c.913C>A (p.(Arg305Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003471" "0" "30" "17" "59485424" "59485424" "subst" "4.53313E-6" "01804" "C17orf82_000004" "g.59485424A>G" "" "" "" "TBX2(NM_005994.3):c.1696A>G (p.(Met566Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026999" "0" "50" "17" "59483090" "59483090" "subst" "0.000161447" "02326" "TBX2_000014" "g.59483090G>A" "" "" "" "TBX2(NM_005994.4):c.1579G>A (p.G527R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042033" "0" "30" "17" "59479203" "59479203" "subst" "5.29484E-5" "01804" "TBX2_000015" "g.59479203G>A" "" "" "" "TBX2(NM_005994.4):c.554G>A (p.(Arg185His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042034" "0" "50" "17" "59482045" "59482045" "del" "0" "01804" "TBX2_000016" "g.59482045del" "" "" "" "TBX2(NM_005994.4):c.966del (p.(Ser323Argfs*45))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042035" "0" "50" "17" "59482799" "59482799" "subst" "0" "01804" "TBX2_000017" "g.59482799C>T" "" "" "" "TBX2(NM_005994.4):c.1288C>T (p.(Arg430Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042036" "0" "50" "17" "59483049" "59483049" "subst" "0" "01804" "TBX2_000018" "g.59483049C>G" "" "" "" "TBX2(NM_005994.4):c.1538C>G (p.(Ala513Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056114" "0" "30" "17" "59479307" "59479307" "subst" "4.31496E-6" "01804" "TBX2_000019" "g.59479307G>A" "" "" "" "TBX2(NM_005994.4):c.658G>A (p.(Gly220Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001061986" "11" "90" "17" "59482056" "59482056" "del" "0" "00006" "TBX2_000020" "g.59482056del" "" "{PMID:Hua 2025:40962492}" "" "977delA" "" "Germline" "yes" "" "0" "" "" "g.61404695del" "" "pathogenic (dominant)" "" "0001061987" "11" "90" "17" "59482056" "59482056" "del" "0" "00006" "TBX2_000020" "g.59482056del" "" "{PMID:Hua 2025:40962492}" "" "977delA" "" "Germline" "yes" "" "0" "" "" "g.61404695del" "" "pathogenic (dominant)" "" "0001061988" "21" "90" "17" "59482056" "59482056" "del" "0" "00006" "TBX2_000020" "g.59482056del" "" "{PMID:Hua 2025:40962492}" "" "977delA" "" "Germline" "yes" "" "0" "" "" "g.61404695del" "" "pathogenic (dominant)" "" "0001061989" "21" "90" "17" "59482056" "59482056" "del" "0" "00006" "TBX2_000020" "g.59482056del" "" "{PMID:Hua 2025:40962492}" "" "977delA" "" "Germline" "yes" "" "0" "" "" "g.61404695del" "" "pathogenic (dominant)" "" "0001061990" "21" "90" "17" "59482056" "59482056" "del" "0" "00006" "TBX2_000020" "g.59482056del" "" "{PMID:Hua 2025:40962492}" "" "977delA" "" "Germline" "yes" "" "0" "" "" "g.61404695del" "" "pathogenic (dominant)" "" "0001061991" "21" "90" "17" "59482056" "59482056" "del" "0" "00006" "TBX2_000020" "g.59482056del" "" "{PMID:Hua 2025:40962492}" "" "977delA" "" "Germline" "yes" "" "0" "" "" "g.61404695del" "" "pathogenic (dominant)" "" "0001061992" "11" "90" "17" "59482056" "59482056" "del" "0" "00006" "TBX2_000020" "g.59482056del" "" "{PMID:Hua 2025:40962492}" "" "977delA" "" "Germline" "yes" "" "0" "" "" "g.61404695del" "" "pathogenic (dominant)" "" "0001061993" "11" "90" "17" "59482056" "59482056" "del" "0" "00006" "TBX2_000020" "g.59482056del" "" "{PMID:Hua 2025:40962492}" "" "977delA" "" "Germline" "yes" "" "0" "" "" "g.61404695del" "" "pathogenic (dominant)" "" "0001061994" "11" "90" "17" "59482056" "59482056" "del" "0" "00006" "TBX2_000020" "g.59482056del" "" "{PMID:Hua 2025:40962492}" "" "977delA" "" "Germline" "yes" "" "0" "" "" "g.61404695del" "" "pathogenic (dominant)" "" "0001061995" "11" "90" "17" "59482056" "59482056" "del" "0" "00006" "TBX2_000020" "g.59482056del" "" "{PMID:Hua 2025:40962492}" "" "977delA" "" "Germline" "yes" "" "0" "" "" "g.61404695del" "" "pathogenic (dominant)" "" "0001061996" "11" "90" "17" "59482056" "59482056" "del" "0" "00006" "TBX2_000020" "g.59482056del" "" "{PMID:Hua 2025:40962492}" "" "977delA" "" "Germline" "yes" "" "0" "" "" "g.61404695del" "" "pathogenic (dominant)" "" "0001061997" "21" "90" "17" "59482056" "59482056" "del" "0" "00006" "TBX2_000020" "g.59482056del" "" "{PMID:Hua 2025:40962492}" "" "977delA" "" "Germline" "yes" "" "0" "" "" "g.61404695del" "" "pathogenic (dominant)" "" "0001061998" "11" "90" "17" "59482056" "59482056" "del" "0" "00006" "TBX2_000020" "g.59482056del" "" "{PMID:Hua 2025:40962492}" "" "977delA" "" "Germline" "yes" "" "0" "" "" "g.61404695del" "" "pathogenic (dominant)" "" "0001061999" "21" "90" "17" "59482056" "59482056" "del" "0" "00006" "TBX2_000020" "g.59482056del" "" "{PMID:Hua 2025:40962492}" "" "977delA" "" "Germline" "yes" "" "0" "" "" "g.61404695del" "" "pathogenic (dominant)" "" "0001062000" "21" "90" "17" "59482056" "59482056" "del" "0" "00006" "TBX2_000020" "g.59482056del" "" "{PMID:Hua 2025:40962492}" "" "977delA" "" "Germline" "yes" "" "0" "" "" "g.61404695del" "" "pathogenic (dominant)" "" "0001062001" "21" "90" "17" "59482056" "59482056" "del" "0" "00006" "TBX2_000020" "g.59482056del" "" "{PMID:Hua 2025:40962492}" "" "977delA" "" "Germline" "yes" "" "0" "" "" "g.61404695del" "" "pathogenic (dominant)" "" "0001062002" "21" "90" "17" "59482056" "59482056" "del" "0" "00006" "TBX2_000020" "g.59482056del" "" "{PMID:Hua 2025:40962492}" "" "977delA" "" "Germline" "yes" "" "0" "" "" "g.61404695del" "" "pathogenic (dominant)" "" "0001062003" "21" "90" "17" "59482056" "59482056" "del" "0" "00006" "TBX2_000020" "g.59482056del" "" "{PMID:Hua 2025:40962492}" "" "977delA" "" "Germline" "yes" "" "0" "" "" "g.61404695del" "" "pathogenic (dominant)" "" "0001062004" "21" "90" "17" "59482056" "59482056" "del" "0" "00006" "TBX2_000020" "g.59482056del" "" "{PMID:Hua 2025:40962492}" "" "977delA" "" "Germline" "yes" "" "0" "" "" "g.61404695del" "" "pathogenic (dominant)" "" "0001062005" "21" "90" "17" "59482056" "59482056" "del" "0" "00006" "TBX2_000020" "g.59482056del" "" "{PMID:Hua 2025:40962492}" "" "977delA" "" "Germline" "yes" "" "0" "" "" "g.61404695del" "" "pathogenic (dominant)" "" "0001062006" "21" "90" "17" "59482066" "59482066" "del" "0" "00006" "TBX2_000021" "g.59482066del" "" "{PMID:Hua 2025:40962492}" "" "987delC" "" "Germline" "yes" "" "0" "" "" "g.61404705del" "" "pathogenic (dominant)" "" "0001062007" "21" "90" "17" "59482066" "59482066" "del" "0" "00006" "TBX2_000021" "g.59482066del" "" "{PMID:Hua 2025:40962492}" "" "987delC" "" "Germline" "yes" "" "0" "" "" "g.61404705del" "" "pathogenic (dominant)" "" "0001066838" "0" "30" "17" "59483090" "59483090" "subst" "0.000161447" "02325" "TBX2_000014" "g.59483090G>A" "" "" "" "TBX2(NM_005994.4):c.1579G>A (p.G527R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 TBX2 ## Count = 43 "{{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}}" "0000562508" "00020853" "50" "411" "0" "411" "0" "c.411del" "r.(?)" "p.(Phe138SerfsTer17)" "" "0000562511" "00020853" "30" "986" "0" "986" "0" "c.986C>A" "r.(?)" "p.(Pro329His)" "" "0000562512" "00020853" "30" "2030" "0" "2030" "0" "c.2030C>T" "r.(?)" "p.(Pro677Leu)" "" "0000680946" "00020853" "50" "953" "0" "953" "0" "c.953C>A" "r.(?)" "p.(Ala318Glu)" "" "0000692418" "00020853" "50" "471" "0" "471" "0" "c.471T>G" "r.(?)" "p.(Ile157Met)" "" "0000726558" "00020853" "50" "1153" "0" "1153" "0" "c.1153G>T" "r.(?)" "p.(Ala385Ser)" "" "0000855028" "00020853" "50" "1043" "0" "1043" "0" "c.1043G>C" "r.(?)" "p.(Arg348Pro)" "" "0000936430" "00020853" "50" "131" "0" "131" "0" "c.131C>T" "r.(?)" "p.(Pro44Leu)" "" "0000950972" "00020853" "30" "6151" "0" "6157" "0" "c.*4012_*4018del" "r.(=)" "p.(=)" "" "0000982668" "00020853" "30" "1686" "8" "1686" "8" "c.1686+8C>T" "r.(=)" "p.(=)" "" "0001003468" "00020853" "50" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Ala64Val)" "" "0001003469" "00020853" "50" "746" "0" "746" "0" "c.746C>T" "r.(?)" "p.(Thr249Ile)" "" "0001003470" "00020853" "50" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Arg305Ser)" "" "0001003471" "00020853" "30" "1696" "0" "1696" "0" "c.1696A>G" "r.(?)" "p.(Met566Val)" "" "0001026999" "00020853" "50" "1579" "0" "1579" "0" "c.1579G>A" "r.(?)" "p.(Gly527Arg)" "" "0001042033" "00020853" "30" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Arg185His)" "" "0001042034" "00020853" "50" "966" "0" "966" "0" "c.966del" "r.(?)" "p.(Ser323Argfs*45)" "" "0001042035" "00020853" "50" "1288" "0" "1288" "0" "c.1288C>T" "r.(?)" "p.(Arg430Trp)" "" "0001042036" "00020853" "50" "1538" "0" "1538" "0" "c.1538C>G" "r.(?)" "p.(Ala513Gly)" "" "0001056114" "00020853" "30" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Gly220Ser)" "" "0001061986" "00020853" "90" "977" "0" "977" "0" "c.977del" "r.(977del)" "p.(Asp326AlafsTer42)" "" "0001061987" "00020853" "90" "977" "0" "977" "0" "c.977del" "r.(977del)" "p.(Asp326AlafsTer42)" "" "0001061988" "00020853" "90" "977" "0" "977" "0" "c.977del" "r.(977del)" "p.(Asp326AlafsTer42)" "" "0001061989" "00020853" "90" "977" "0" "977" "0" "c.977del" "r.(977del)" "p.(Asp326AlafsTer42)" "" "0001061990" "00020853" "90" "977" "0" "977" "0" "c.977del" "r.(977del)" "p.(Asp326AlafsTer42)" "" "0001061991" "00020853" "90" "977" "0" "977" "0" "c.977del" "r.(977del)" "p.(Asp326AlafsTer42)" "" "0001061992" "00020853" "90" "977" "0" "977" "0" "c.977del" "r.(977del)" "p.(Asp326AlafsTer42)" "" "0001061993" "00020853" "90" "977" "0" "977" "0" "c.977del" "r.(977del)" "p.(Asp326AlafsTer42)" "" "0001061994" "00020853" "90" "977" "0" "977" "0" "c.977del" "r.(977del)" "p.(Asp326AlafsTer42)" "" "0001061995" "00020853" "90" "977" "0" "977" "0" "c.977del" "r.(977del)" "p.(Asp326AlafsTer42)" "" "0001061996" "00020853" "90" "977" "0" "977" "0" "c.977del" "r.(977del)" "p.(Asp326AlafsTer42)" "" "0001061997" "00020853" "90" "977" "0" "977" "0" "c.977del" "r.(977del)" "p.(Asp326AlafsTer42)" "" "0001061998" "00020853" "90" "977" "0" "977" "0" "c.977del" "r.(977del)" "p.(Asp326AlafsTer42)" "" "0001061999" "00020853" "90" "977" "0" "977" "0" "c.977del" "r.(977del)" "p.(Asp326AlafsTer42)" "" "0001062000" "00020853" "90" "977" "0" "977" "0" "c.977del" "r.(977del)" "p.(Asp326AlafsTer42)" "" "0001062001" "00020853" "90" "977" "0" "977" "0" "c.977del" "r.(977del)" "p.(Asp326AlafsTer42)" "" "0001062002" "00020853" "90" "977" "0" "977" "0" "c.977del" "r.(977del)" "p.(Asp326AlafsTer42)" "" "0001062003" "00020853" "90" "977" "0" "977" "0" "c.977del" "r.(977del)" "p.(Asp326AlafsTer42)" "" "0001062004" "00020853" "90" "977" "0" "977" "0" "c.977del" "r.(977del)" "p.(Asp326AlafsTer42)" "" "0001062005" "00020853" "90" "977" "0" "977" "0" "c.977del" "r.(977del)" "p.(Asp326AlafsTer42)" "" "0001062006" "00020853" "90" "987" "0" "987" "0" "c.987del" "r.(987del)" "p.(Ala330ArgfsTer38)" "" "0001062007" "00020853" "90" "987" "0" "987" "0" "c.987del" "r.(987del)" "p.(Ala330ArgfsTer38)" "" "0001066838" "00020853" "30" "1579" "0" "1579" "0" "c.1579G>A" "r.(?)" "p.(Gly527Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000440137" "0000936430" "0000473187" "0001061986" "0000473188" "0001061987" "0000473189" "0001061988" "0000473190" "0001061989" "0000473191" "0001061990" "0000473192" "0001061991" "0000473193" "0001061992" "0000473194" "0001061993" "0000473195" "0001061994" "0000473196" "0001061995" "0000473197" "0001061996" "0000473198" "0001061997" "0000473199" "0001061998" "0000473200" "0001061999" "0000473201" "0001062000" "0000473202" "0001062001" "0000473203" "0001062002" "0000473204" "0001062003" "0000473205" "0001062004" "0000473206" "0001062005" "0000473207" "0001062006" "0000473208" "0001062007"