### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TBX20) # 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}}" "TBX20" "T-box 20" "7" "p14.3" "unknown" "NG_015805.1" "UD_132118842227" "" "http://www.LOVD.nl/TBX20" "" "1" "11598" "57057" "606061" "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/TBX20_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-01-22 17:09:10" "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}}" "00020863" "TBX20" "transcript variant 1" "001" "NM_001077653.2" "" "NP_001071121.1" "" "" "" "-480" "1344" "1344" "35293711" "35242042" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "00389" "TOF" "tetralogy of Fallot (TOF)" "AD" "187500" "" "" "" "00006" "2014-05-30 08:58:25" "00006" "2021-10-27 15:03:22" "03022" "ASD4" "septal defect, atrial, type 4 (ASD4)" "" "611363" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "04204" "ASD" "septal defect, atrial (ASD)" "" "" "" "" "" "00006" "2015-02-20 21:20:25" "00006" "2015-12-08 23:53:05" "05158" "ARVC" "cardiomyopathy, ventricular, right, arrhythmogenic (ARVC)" "" "" "" "" "" "00006" "2016-04-19 22:00:09" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TBX20" "03022" "TBX20" "04204" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00073720" "" "" "" "1" "" "00006" "{DOI:Fatkin 2016:10.1016/j.ppedcard.2016.01.003}" "" "M" "" "" "" "0" "" "" "" "" "00417667" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00446729" "" "" "" "5" "" "00006" "{PMID:Huang 2017:28553164}" "3-generation family, 5 affected (2F, 3M)" "F" "" "China" "" "0" "" "" "" "FamAPatII3" "00446730" "" "" "" "3" "" "00006" "{PMID:Kirk 2007:17668378}" "3-generation family, 3 affected (3F)" "F" "" "Australia" "" "0" "" "" "" "Fam1PatIII1" "00446731" "" "" "" "6" "" "00006" "{PMID:Kirk 2007:17668378}" "3-generation family, 6 affected (4F, 2M)" "M" "" "Australia" "" "0" "" "" "" "Fam2PatIII4" "00446732" "" "" "" "3" "" "00006" "{PMID:Liu 2014:25183037}" "3-generation family, 3 affected (2F, M)" "M" "" "China" "" "0" "" "" "" "FamPatIII1" "00446733" "" "" "" "4" "" "00006" "{PMID:Posch 2010:19762328}" "4-generation family, 4 affected (3F, M)" "M" "" "Lebanon" "" "0" "" "" "" "FamPatIV4" "00446734" "" "" "" "4" "" "00006" "{PMID:Zhou 2016:27510170}" "3-generation family, 4 affected (2F, 2M)" "M" "" "China" "" "0" "" "" "" "FamPatII3" "00446739" "" "" "" "5" "" "00006" "{PMID:Kodo 2016:27642787}" "3-generation family, 5 affected (2F, 3M)" "M" "" "United States" "" "0" "" "" "" "FamAPatIII4" "00446740" "" "" "" "1" "" "00006" "{PMID:Kodo 2016:27642787}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "FamBPatII2" "00446863" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat171" "00446891" "" "" "" "3" "" "00006" "{PMID:Myasnikov 2021:34202524}" "4-generation family, 3 affected (2F, M) with di-genic variants" "F" "" "Russia" "" "0" "" "" "" "FamPatIII4" "00446892" "" "" "" "3" "" "00006" "{PMID:Chang 2024:37657916}" "2-generation family, affected mother/daughter/son" "F" "" "Australia" "" "0" "" "" "" "Fam1PatII1" "00446893" "" "" "" "4" "" "00006" "{PMID:Chang 2024:37657916}" "2-generation family, affected mother/daughter/2 sons" "M" "" "Australia" "" "0" "" "" "" "Fam2PatII1" "00446894" "" "" "" "5" "" "00006" "{PMID:Chang 2024:37657916}" "3-generation family, 5 affected (4F, M)" "F" "" "Australia" "" "0" "" "" "" "Fam3PatII1" "00446895" "" "" "" "2" "" "00006" "{PMID:Chang 2024:37657916}" "2-generation family, affected father/daughter" "F" "" "Australia" "" "0" "" "" "" "Fam4PatII2" "00460932" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00073720" "00352" "00417667" "05158" "00446729" "00389" "00446730" "04204" "00446731" "04204" "00446732" "04204" "00446733" "04204" "00446734" "04204" "00446739" "04173" "00446740" "04173" "00446863" "04173" "00446891" "04173" "00446892" "04173" "00446893" "04173" "00446894" "04173" "00446895" "04173" "00460932" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00352, 00389, 03022, 04173, 04204, 05158 ## Count = 15 "{{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}}" "0000053471" "00352" "00073720" "00006" "Unknown" "" "no family history, LVEF 0.16" "00y18m" "" "" "" "" "" "" "" "" "" "" "0000335931" "00389" "00446729" "00006" "Familial, autosomal dominant" "" "see paper; ..., tetralogy of Fallot, congenital heart disease" "" "" "" "" "" "" "" "" "ASD4" "tetralogy of Fallot" "" "0000335932" "04204" "00446730" "00006" "Familial, autosomal dominant" "" "see paper; ..., atrial septal defect corrected surgically in early childhood, normal left ventricular function" "" "" "" "" "" "" "" "" "ASD4" "atrial septal defect" "" "0000335933" "04204" "00446731" "00006" "Familial, autosomal dominant" "" "see paper; ..., small atrial septal defect, mild coarctation aorta; 6m/6y-mild-to-moderate pulmonary hypertension; 31y-percutaneous device closure ASD; ECG reduced LV function" "" "" "" "" "" "" "" "" "ASD4" "atrial septal defect" "" "0000335934" "04204" "00446732" "00006" "Familial, autosomal dominant" "00y07m" "see paper; ..., 7m-atrial septal defect" "" "" "" "" "" "" "" "" "ASD4" "atrial septal defect" "" "0000335935" "04204" "00446733" "00006" "Familial, autosomal dominant" "16y" "see paper; ..., congenital atrial septal defects, patent foramen ovale, cardiac valve defects" "" "" "" "" "" "" "" "" "ASD4" "atrial septal defect" "" "0000335936" "04204" "00446734" "00006" "Familial, autosomal dominant" "" "see paper; ..., adult‑onset dilated cardiomyopathy; family congenital atrial septal defect" "" "" "" "" "" "" "" "" "ASD4" "atrial septal defect" "" "0000335943" "04173" "00446739" "00006" "Familial, autosomal dominant" "" "see paper; ..., left ventricular noncompaction, heart transplantation" "" "" "" "" "" "" "" "" "" "left ventricular noncompaction" "" "0000335944" "04173" "00446740" "00006" "Isolated (sporadic)" "" "see paper; ..., left ventricular noncompaction" "" "" "" "" "" "" "" "" "" "left ventricular noncompaction" "" "0000336067" "04173" "00446863" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336095" "04173" "00446891" "00006" "Di-genic" "35y" "see paper; ..., left ventricular non-compaction cardiomyopathy" "" "" "" "" "" "" "" "" "" "left ventricular noncompaction" "" "0000336096" "04173" "00446892" "00006" "Familial, autosomal dominant" "" "see paper; ..., left ventricular non-compaction, dilated cardiomyopathy" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336097" "04173" "00446893" "00006" "Familial, autosomal dominant" "" "see paper; ..., congenital heart disease, left ventricular non-compaction, dilated cardiomyopathy, Wolff-Parkinson-White syndrome" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336098" "04173" "00446894" "00006" "Familial, autosomal dominant" "" "see paper; ..., congenital heart disease, left ventricular non-compaction, restrictive cardiomyopathy" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336099" "04173" "00446895" "00006" "Familial, autosomal dominant" "" "see paper; ..., left ventricular non-compaction" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000073880" "00073720" "1" "00006" "00006" "2016-06-18 15:56:12" "" "" "SEQ" "DNA" "" "" "0000418960" "00417667" "1" "04384" "04384" "2022-09-21 12:32:21" "" "" "SEQ-NG" "DNA" "" "" "0000448304" "00446729" "1" "00006" "00006" "2024-01-22 17:36:13" "" "" "SEQ" "DNA" "" "" "0000448305" "00446730" "1" "00006" "00006" "2024-01-22 18:00:31" "" "" "SEQ" "DNA" "" "" "0000448306" "00446731" "1" "00006" "00006" "2024-01-22 18:05:54" "" "" "MIPsm" "DNA" "" "" "0000448307" "00446732" "1" "00006" "00006" "2024-01-22 18:10:50" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448308" "00446733" "1" "00006" "00006" "2024-01-22 19:33:14" "" "" "SEQ" "DNA" "" "" "0000448309" "00446734" "1" "00006" "00006" "2024-01-22 19:54:54" "" "" "SEQ" "DNA" "" "" "0000448314" "00446739" "1" "00006" "00006" "2024-01-23 14:40:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000448315" "00446740" "1" "00006" "00006" "2024-01-23 14:44:43" "" "" "SEQ" "DNA" "" "" "0000448438" "00446863" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448466" "00446891" "1" "00006" "00006" "2024-01-23 17:40:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000448467" "00446892" "1" "00006" "00006" "2024-01-23 18:11:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000448468" "00446893" "1" "00006" "00006" "2024-01-23 18:11:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000448469" "00446894" "1" "00006" "00006" "2024-01-23 18:11:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000448470" "00446895" "1" "00006" "00006" "2024-01-23 18:11:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000462564" "00460932" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000073880" "TBX20" "0000073880" "TTN" "0000418960" "TBX20" "0000448304" "TBX20" "0000448305" "TBX20" "0000448306" "TBX20" "0000448308" "TBX20" "0000448309" "TBX20" "0000448315" "TBX20" "0000462564" "TBX20" ## 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 = 108 "{{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}}" "0000117643" "21" "70" "7" "35244196" "35244196" "subst" "0" "00006" "TBX20_000001" "g.35244196T>C" "" "{DOI:Fatkin 2016:10.1016/j.ppedcard.2016.01.003}" "" "p.297-2A>G" "variant present in unaffected mother" "Germline" "" "" "0" "" "" "g.35204584T>C" "" "likely pathogenic" "" "0000247958" "0" "10" "7" "35293193" "35293193" "subst" "0.678482" "02325" "TBX20_000022" "g.35293193A>G" "" "" "" "TBX20(NM_001077653.2):c.39T>C (p.S13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35253582A>G" "" "benign" "" "0000249475" "0" "30" "7" "35242380" "35242380" "subst" "0.000598672" "02325" "TBX20_000006" "g.35242380A>T" "" "" "" "TBX20(NM_001077653.2):c.1006T>A (p.S336T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35202768A>T" "" "likely benign" "" "0000249677" "0" "90" "7" "35289797" "35289797" "dup" "0" "02325" "TBX20_000025" "g.35289797dup" "" "" "" "TBX20(NM_001077653.2):c.145delTinsTC (p.S50Vfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35250185dup" "" "pathogenic" "" "0000249798" "0" "50" "7" "35242114" "35242114" "del" "0" "02325" "TBX20_000002" "g.35242114del" "" "" "" "TBX20(NM_001077653.2):c.1275delT (p.Q426Sfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35202502del" "" "VUS" "" "0000251945" "0" "30" "7" "35244086" "35244086" "subst" "0" "02326" "TBX20_000008" "g.35244086A>T" "" "" "" "TBX20(NM_001077653.2):c.999T>A (p.N333K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35204474A>T" "" "likely benign" "" "0000253219" "0" "10" "7" "35293193" "35293193" "subst" "0.678482" "01943" "TBX20_000022" "g.35293193A>G" "" "" "" "TBX20(NM_001077653.2):c.39T>C (p.S13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35253582A>G" "" "benign" "" "0000253816" "0" "10" "7" "35271220" "35271220" "subst" "0" "01943" "TBX20_000010" "g.35271220A>G" "" "" "" "TBX20(NM_001077653.2):c.814-28T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35231608A>G" "" "benign" "" "0000311738" "0" "30" "7" "35242369" "35242369" "subst" "0.0010254" "02325" "TBX20_000005" "g.35242369T>G" "" "" "" "TBX20(NM_001077653.2):c.1017A>C (p.T339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35202757T>G" "" "likely benign" "" "0000311739" "0" "30" "7" "35293089" "35293089" "subst" "0" "02325" "TBX20_000021" "g.35293089G>T" "" "" "" "TBX20(NM_001077653.2):c.127+16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35253478G>T" "" "likely benign" "" "0000311740" "0" "50" "7" "35293218" "35293218" "subst" "0" "02325" "TBX20_000023" "g.35293218G>A" "" "" "" "TBX20(NM_001077653.2):c.14C>T (p.A5V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35253607G>A" "" "VUS" "" "0000311741" "0" "30" "7" "35289685" "35289685" "subst" "0" "02325" "TBX20_000019" "g.35289685G>T" "" "" "" "TBX20(NM_001077653.2):c.258C>A (p.I86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35250073G>T" "" "likely benign" "" "0000311742" "0" "70" "7" "35288378" "35288378" "subst" "2.03028E-5" "02325" "TBX20_000018" "g.35288378G>C" "" "" "" "TBX20(NM_001077653.2):c.456C>G (p.I152M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35248766G>C" "" "likely pathogenic" "" "0000311743" "0" "10" "7" "35288276" "35288276" "subst" "0.388756" "02325" "TBX20_000016" "g.35288276T>C" "" "" "" "TBX20(NM_001077653.2):c.545+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35248664T>C" "" "benign" "" "0000311744" "0" "50" "7" "35280504" "35280504" "subst" "0" "02325" "TBX20_000013" "g.35280504T>C" "" "" "" "TBX20(NM_001077653.2):c.800A>G (p.Y267C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35240892T>C" "" "VUS" "" "0000311745" "0" "50" "7" "35244154" "35244154" "subst" "0.00030471" "02325" "TBX20_000009" "g.35244154G>A" "" "" "" "TBX20(NM_001077653.2):c.931C>T (p.R311C, p.(Arg311Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35204542G>A" "" "VUS" "" "0000314446" "0" "50" "7" "35242131" "35242131" "subst" "0" "02326" "TBX20_000003" "g.35242131G>A" "" "" "" "TBX20(NM_001077653.2):c.1255C>T (p.P419S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35202519G>A" "" "VUS" "" "0000316296" "0" "50" "7" "35293232" "35293232" "subst" "0" "01943" "TBX20_000024" "g.35293232G>T" "" "" "" "TBX20(NM_001077653.2):c.-1C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35253621G>T" "" "VUS" "" "0000316297" "0" "50" "7" "35244083" "35244083" "subst" "0" "01943" "TBX20_000007" "g.35244083T>A" "" "" "" "TBX20(NM_001077653.2):c.1002A>T (p.R334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35204471T>A" "" "VUS" "" "0000316298" "0" "10" "7" "35242369" "35242369" "subst" "0.0010254" "01943" "TBX20_000005" "g.35242369T>G" "" "" "" "TBX20(NM_001077653.2):c.1017A>C (p.T339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35202757T>G" "" "benign" "" "0000316299" "0" "30" "7" "35242243" "35242243" "subst" "3.66059E-5" "01943" "TBX20_000004" "g.35242243G>A" "" "" "" "TBX20(NM_001077653.2):c.1143C>T (p.H381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35202631G>A" "" "likely benign" "" "0000316300" "0" "30" "7" "35289825" "35289826" "del" "0" "01943" "TBX20_000020" "g.35289825_35289826del" "" "" "" "TBX20(NM_001077653.2):c.128-10_128-9delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35250213_35250214del" "" "likely benign" "" "0000316301" "0" "30" "7" "35288333" "35288333" "subst" "0.00192647" "01943" "TBX20_000017" "g.35288333G>A" "" "" "" "TBX20(NM_001077653.2):c.501C>T (p.S167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35248721G>A" "" "likely benign" "" "0000316302" "0" "10" "7" "35280539" "35280539" "subst" "0.00827401" "01943" "TBX20_000015" "g.35280539G>T" "" "" "" "TBX20(NM_001077653.2):c.765C>A (p.I255=, p.(Ile255=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35240927G>T" "" "benign" "" "0000316303" "0" "50" "7" "35280519" "35280519" "subst" "2.03434E-5" "01943" "TBX20_000014" "g.35280519G>A" "" "" "" "TBX20(NM_001077653.2):c.785C>T (p.T262M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35240907G>A" "" "VUS" "" "0000316305" "0" "30" "7" "35280474" "35280474" "subst" "8.14041E-5" "01943" "TBX20_000012" "g.35280474G>A" "" "" "" "TBX20(NM_001077653.2):c.813+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35240862G>A" "" "likely benign" "" "0000316306" "0" "50" "7" "35244154" "35244154" "subst" "0.00030471" "01943" "TBX20_000009" "g.35244154G>A" "" "" "" "TBX20(NM_001077653.2):c.931C>T (p.R311C, p.(Arg311Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35204542G>A" "" "VUS" "" "0000531906" "0" "50" "7" "35242055" "35242055" "subst" "9.69787E-5" "01943" "TBX20_000026" "g.35242055G>A" "" "" "" "TBX20(NM_001077653.2):c.1331C>T (p.T444M, p.(Thr444Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35202443G>A" "" "VUS" "" "0000531907" "0" "30" "7" "35242073" "35242073" "subst" "4.34156E-6" "02327" "TBX20_000027" "g.35242073T>C" "" "" "" "TBX20(NM_001077653.2):c.1313A>G (p.(His438Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35202461T>C" "" "likely benign" "" "0000531908" "0" "50" "7" "35242077" "35242077" "subst" "0.000121366" "02325" "TBX20_000028" "g.35242077G>A" "" "" "" "TBX20(NM_001077653.2):c.1309C>T (p.R437C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35202465G>A" "" "VUS" "" "0000531909" "0" "90" "7" "35242114" "35242114" "subst" "0" "01943" "TBX20_000029" "g.35242114A>T" "" "" "" "TBX20(NM_001077653.2):c.1272T>A (p.Y424*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35202502A>T" "" "pathogenic" "" "0000531910" "0" "50" "7" "35242114" "35242114" "subst" "0" "02325" "TBX20_000029" "g.35242114A>T" "" "" "" "TBX20(NM_001077653.2):c.1272T>A (p.Y424*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35202502A>T" "" "VUS" "" "0000531911" "0" "50" "7" "35242235" "35242235" "subst" "0" "02327" "TBX20_000030" "g.35242235T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35202623T>C" "" "VUS" "" "0000531912" "0" "50" "7" "35242350" "35242350" "subst" "0" "02325" "TBX20_000031" "g.35242350G>A" "" "" "" "TBX20(NM_001077653.2):c.1036C>T (p.L346F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35202738G>A" "" "VUS" "" "0000531913" "0" "30" "7" "35242354" "35242354" "subst" "0.000263968" "01943" "TBX20_000032" "g.35242354C>T" "" "" "" "TBX20(NM_001077653.2):c.1032G>A (p.L344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35202742C>T" "" "likely benign" "" "0000531914" "0" "30" "7" "35244091" "35244091" "subst" "3.65996E-5" "02327" "TBX20_000033" "g.35244091G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35204479G>A" "" "likely benign" "" "0000531915" "0" "30" "7" "35244134" "35244134" "subst" "6.90591E-5" "01943" "TBX20_000034" "g.35244134G>A" "" "" "" "TBX20(NM_001077653.2):c.951C>T (p.Y317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35204522G>A" "" "likely benign" "" "0000531916" "0" "30" "7" "35244154" "35244154" "subst" "0.00030471" "02327" "TBX20_000009" "g.35244154G>A" "" "" "" "TBX20(NM_001077653.2):c.931C>T (p.R311C, p.(Arg311Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35204542G>A" "" "likely benign" "" "0000531917" "0" "10" "7" "35271254" "35271254" "subst" "0" "02327" "TBX20_000035" "g.35271254T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35231642T>C" "" "benign" "" "0000531918" "0" "10" "7" "35280346" "35280346" "dup" "0" "01943" "TBX20_000036" "g.35280346dup" "" "" "" "TBX20(NM_001077653.2):c.813+145dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35240734dup" "" "benign" "" "0000531919" "0" "50" "7" "35280645" "35280645" "del" "0" "01943" "TBX20_000037" "g.35280645del" "" "" "" "TBX20(NM_001077653.2):c.662delT (p.L221*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35241033del" "" "VUS" "" "0000531920" "0" "10" "7" "35280693" "35280693" "subst" "0.388933" "02327" "TBX20_000038" "g.35280693C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35241081C>T" "" "benign" "" "0000531923" "0" "10" "7" "35288213" "35288213" "subst" "0" "02327" "TBX20_000041" "g.35288213T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35248601T>C" "" "benign" "" "0000531924" "0" "10" "7" "35288276" "35288276" "subst" "0.388756" "02327" "TBX20_000016" "g.35288276T>C" "" "" "" "TBX20(NM_001077653.2):c.545+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35248664T>C" "" "benign" "" "0000531925" "0" "30" "7" "35288420" "35288420" "subst" "0.000125879" "02327" "TBX20_000042" "g.35288420C>T" "" "" "" "TBX20(NM_001077653.2):c.414G>A (p.S138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35248808C>T" "" "likely benign" "" "0000531926" "0" "30" "7" "35289451" "35289451" "subst" "0" "02327" "TBX20_000043" "g.35289451C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35249839C>T" "" "likely benign" "" "0000531927" "0" "30" "7" "35289853" "35289854" "del" "0" "02327" "TBX20_000044" "g.35289853_35289854del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35250241_35250242del" "" "likely benign" "" "0000531928" "0" "30" "7" "35289892" "35289892" "dup" "0" "02327" "TBX20_000045" "g.35289892dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35250280dup" "" "likely benign" "" "0000531930" "0" "30" "7" "35293184" "35293184" "subst" "1.6292E-5" "02327" "TBX20_000047" "g.35293184G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35253573G>A" "" "likely benign" "" "0000531931" "0" "10" "7" "35293193" "35293193" "subst" "0.678482" "02327" "TBX20_000022" "g.35293193A>G" "" "" "" "TBX20(NM_001077653.2):c.39T>C (p.S13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35253582A>G" "" "benign" "" "0000531932" "0" "50" "7" "35293223" "35293223" "subst" "0" "02327" "TBX20_000048" "g.35293223G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35253612G>T" "" "VUS" "" "0000531933" "0" "10" "7" "35293417" "35293417" "subst" "0" "02327" "TBX20_000049" "g.35293417A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35253806A>G" "" "benign" "" "0000611053" "0" "50" "7" "35242128" "35242128" "subst" "0" "02325" "TBX20_000051" "g.35242128G>A" "" "" "" "TBX20(NM_001077653.2):c.1258C>T (p.R420*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35202516G>A" "" "VUS" "" "0000611054" "0" "70" "7" "35284599" "35284605" "del" "0" "01804" "TBX20_000053" "g.35284599_35284605del" "" "" "" "TBX20(NM_001077653.2):c.610_616del (p.(Glu204Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35244987_35244993del" "" "likely pathogenic" "" "0000611055" "0" "30" "7" "35289942" "35289942" "dup" "0" "02327" "TBX20_000054" "g.35289942dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35250330dup" "" "likely benign" "" "0000621879" "0" "50" "7" "35242100" "35242100" "subst" "0" "02326" "TBX20_000050" "g.35242100G>A" "" "" "" "TBX20(NM_001077653.2):c.1286C>T (p.P429L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35202488G>A" "" "VUS" "" "0000621880" "0" "50" "7" "35242338" "35242338" "subst" "0" "02325" "TBX20_000052" "g.35242338C>T" "" "" "" "TBX20(NM_001077653.2):c.1048G>A (p.V350I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35202726C>T" "" "VUS" "" "0000655825" "0" "90" "7" "35288354" "35288354" "subst" "0" "02325" "TBX20_000055" "g.35288354G>T" "" "" "" "TBX20(NM_001077653.2):c.480C>A (p.Y160*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35248742G>T" "" "pathogenic" "" "0000655826" "0" "30" "7" "35289736" "35289736" "subst" "0" "01943" "TBX20_000056" "g.35289736T>C" "" "" "" "TBX20(NM_001077653.2):c.207A>G (p.G69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35250124T>C" "" "likely benign" "" "0000678102" "0" "50" "7" "35293120" "35293120" "subst" "4.14007E-6" "01943" "TBX20_000057" "g.35293120T>C" "" "" "" "TBX20(NM_001077653.2):c.112A>G (p.T38A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689993" "0" "50" "7" "35289602" "35289602" "subst" "0" "01943" "TBX20_000058" "g.35289602T>C" "" "" "" "TBX20(NM_001077653.2):c.341A>G (p.H114R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689994" "0" "30" "7" "35289756" "35289756" "subst" "0.000793625" "02326" "TBX20_000059" "g.35289756C>T" "" "" "" "TBX20(NM_001077653.2):c.187G>A (p.A63T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689995" "0" "50" "7" "35293228" "35293228" "subst" "8.15554E-6" "02326" "TBX20_000060" "g.35293228C>T" "" "" "" "TBX20(NM_001077653.2):c.4G>A (p.E2K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721439" "0" "30" "7" "35242141" "35242141" "subst" "4.08981E-6" "01943" "TBX20_000061" "g.35242141T>G" "" "" "" "TBX20(NM_001077653.2):c.1245A>C (p.S415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721440" "0" "50" "7" "35284626" "35284626" "subst" "0" "01943" "TBX20_000062" "g.35284626G>A" "" "" "" "TBX20(NM_001077653.2):c.589C>T (p.L197F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803142" "0" "50" "7" "35288376" "35288376" "subst" "0" "02325" "TBX20_000063" "g.35288376A>G" "" "" "" "TBX20(NM_001077653.2):c.458T>C (p.V153A), TBX20(NM_001166220.1):c.458T>C (p.(Val153Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803143" "0" "30" "7" "35288420" "35288420" "subst" "0.000125879" "01943" "TBX20_000042" "g.35288420C>T" "" "" "" "TBX20(NM_001077653.2):c.414G>A (p.S138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803144" "0" "50" "7" "35289569" "35289569" "subst" "1.66808E-5" "01943" "TBX20_000064" "g.35289569G>A" "" "" "" "TBX20(NM_001077653.2):c.374C>T (p.S125L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803145" "0" "50" "7" "35293228" "35293228" "subst" "8.15554E-6" "01943" "TBX20_000060" "g.35293228C>T" "" "" "" "TBX20(NM_001077653.2):c.4G>A (p.E2K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860766" "0" "30" "7" "35280617" "35280617" "subst" "0" "01943" "TBX20_000065" "g.35280617T>C" "" "" "" "TBX20(NM_001077653.2):c.687A>G (p.P229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000878879" "0" "70" "7" "35288320" "35288320" "subst" "8.17782E-6" "04384" "TBX20_000066" "g.35288320C>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "VUS" "" "0000912741" "0" "50" "7" "35242076" "35242076" "subst" "9.12607E-5" "02325" "TBX20_000067" "g.35242076C>T" "" "" "" "TBX20(NM_001077653.2):c.1310G>A (p.R437H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912742" "0" "70" "7" "35284560" "35284560" "subst" "0" "02329" "TBX20_000068" "g.35284560C>T" "" "" "" "TBX20(NM_001077653.2):c.654+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000932926" "0" "70" "7" "35242134" "35242180" "del" "0" "03779" "TBX20_000069" "g.35242134_35242180del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000957710" "20" "90" "7" "35271186" "35271186" "subst" "0" "00006" "TBX20_000070" "g.35271186T>A" "" "{PMID:Huang 2017:28553164}" "" "" "not in 800 control chromosomes" "Germline" "yes" "" "0" "" "" "g.35231574T>A" "" "pathogenic (dominant)" "" "0000957711" "21" "90" "7" "35288378" "35288378" "subst" "2.03028E-5" "00006" "TBX20_000018" "g.35288378G>C" "" "{PMID:Kirk 2007:17668378}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35248766G>C" "" "pathogenic (dominant)" "" "0000957712" "21" "90" "7" "35284632" "35284632" "subst" "0" "00006" "TBX20_000071" "g.35284632G>A" "" "{PMID:Kirk 2007:17668378}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35245020G>A" "" "pathogenic (dominant)" "" "0000957713" "21" "90" "7" "35288308" "35288308" "subst" "0" "00006" "TBX20_000072" "g.35288308C>T" "" "{PMID:Liu 2014:25183037}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35248696C>T" "" "pathogenic (dominant)" "" "0000957714" "21" "90" "7" "35289569" "35289569" "subst" "0" "00006" "TBX20_000073" "g.35289569G>C" "" "{PMID:Posch 2010:19762328}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35249957G>C" "" "pathogenic (dominant)" "" "0000957715" "11" "90" "7" "35288407" "35288407" "subst" "0" "00006" "TBX20_000074" "g.35288407C>A" "" "{PMID:Zhou 2016:27510170}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35248795C>A" "" "pathogenic (dominant)" "" "0000957720" "11" "90" "7" "35244134" "35244134" "subst" "0" "00006" "TBX20_000075" "g.35244134G>T" "" "{PMID:Kodo 2016:27642787}" "" "Y317*" "" "Germline" "yes" "" "0" "" "" "g.35204522G>T" "" "pathogenic (dominant)" "" "0000957721" "0" "90" "7" "35280519" "35280519" "subst" "2.03434E-5" "00006" "TBX20_000014" "g.35280519G>A" "" "{PMID:Kodo 2016:27642787}" "" "T262M" "" "De novo" "" "" "0" "" "" "g.35240907G>A" "" "pathogenic (dominant)" "" "0000957845" "0" "70" "7" "35244188" "35244189" "del" "0" "00006" "TBX20_000081" "g.35244188_35244189del" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35204576_35204577del" "" "likely pathogenic" "" "0000957938" "21" "90" "7" "35271176" "35271177" "dup" "0" "00006" "TBX20_000076" "g.35271176_35271177dup" "" "{PMID:Myasnikov 2021:34202524}" "" "" "suggested di-genic inheritance" "Germline" "yes" "" "0" "" "" "g.35231564_35231565dup" "" "likely pathogenic (!)" "" "0000957944" "21" "90" "7" "35289562" "35289562" "subst" "0" "00006" "TBX20_000077" "g.35289562C>G" "" "{PMID:Chang 2024:37657916}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35249950C>G" "" "pathogenic (dominant)" "" "0000957945" "21" "90" "7" "35236939" "35245454" "del" "0" "00006" "TBX20_000078" "g.35236939_35245454del" "" "{PMID:Chang 2024:37657916}" "" "891-1260_*5103del" "" "Germline" "yes" "" "0" "" "" "g.35197327_35205842del)" "" "pathogenic (dominant)" "" "0000957946" "21" "90" "7" "35280595" "35280598" "del" "0" "00006" "TBX20_000079" "g.35280595_35280598del" "" "{PMID:Chang 2024:37657916}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35240983_35240986del" "" "pathogenic (dominant)" "" "0000957947" "11" "90" "7" "35289569" "35289569" "subst" "0" "00006" "TBX20_000080" "g.35289569G>T" "" "{PMID:Chang 2024:37657916}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35249957G>T" "" "pathogenic (dominant)" "" "0000964575" "0" "50" "7" "35284664" "35284664" "subst" "4.07857E-6" "02325" "TBX20_000082" "g.35284664T>C" "" "" "" "TBX20(NM_001077653.2):c.551A>G (p.Y184C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977683" "0" "50" "7" "35242055" "35242055" "subst" "9.69787E-5" "01804" "TBX20_000026" "g.35242055G>A" "" "" "" "TBX20(NM_001077653.2):c.1331C>T (p.T444M, p.(Thr444Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977684" "0" "50" "7" "35244154" "35244154" "subst" "0.00030471" "01804" "TBX20_000009" "g.35244154G>A" "" "" "" "TBX20(NM_001077653.2):c.931C>T (p.R311C, p.(Arg311Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996466" "0" "30" "7" "35242065" "35242065" "subst" "8.72106E-5" "02330" "TBX20_000083" "g.35242065C>T" "" "" "" "TBX20(NM_001077653.2):c.1321G>A (p.A441T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996467" "0" "50" "7" "35242073" "35242073" "subst" "4.34156E-6" "01804" "TBX20_000027" "g.35242073T>C" "" "" "" "TBX20(NM_001077653.2):c.1313A>G (p.(His438Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996468" "0" "50" "7" "35242365" "35242365" "subst" "0" "01804" "TBX20_000084" "g.35242365A>G" "" "" "" "TBX20(NM_001077653.2):c.1021T>C (p.(Ser341Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996469" "0" "10" "7" "35280539" "35280539" "subst" "0.00827401" "02330" "TBX20_000015" "g.35280539G>T" "" "" "" "TBX20(NM_001077653.2):c.765C>A (p.I255=, p.(Ile255=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000996470" "0" "10" "7" "35288276" "35288276" "subst" "0.388756" "02330" "TBX20_000016" "g.35288276T>C" "" "" "" "TBX20(NM_001077653.2):c.545+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000996471" "0" "50" "7" "35288376" "35288376" "subst" "0" "01804" "TBX20_000063" "g.35288376A>G" "" "" "" "TBX20(NM_001077653.2):c.458T>C (p.V153A), TBX20(NM_001166220.1):c.458T>C (p.(Val153Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996472" "0" "50" "7" "35288416" "35288416" "subst" "3.6545E-5" "01804" "TBX20_000085" "g.35288416C>T" "" "" "" "TBX20(NM_001166220.1):c.418G>A (p.(Val140Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996473" "0" "10" "7" "35293193" "35293193" "subst" "0.678482" "02330" "TBX20_000022" "g.35293193A>G" "" "" "" "TBX20(NM_001077653.2):c.39T>C (p.S13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000996474" "0" "50" "7" "35293228" "35293228" "subst" "8.15554E-6" "02327" "TBX20_000060" "g.35293228C>T" "" "" "" "TBX20(NM_001077653.2):c.4G>A (p.E2K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014349" "0" "50" "7" "35242340" "35242340" "subst" "0" "02327" "TBX20_000086" "g.35242340C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014350" "0" "30" "7" "35289736" "35289736" "subst" "0" "02330" "TBX20_000056" "g.35289736T>C" "" "" "" "TBX20(NM_001077653.2):c.207A>G (p.G69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001022091" "0" "30" "7" "35244083" "35244083" "subst" "0" "04796" "TBX20_000007" "g.35244083T>A" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.35204471T>A" "" "likely benign" "" "0001025388" "0" "50" "7" "35242299" "35242299" "subst" "0" "02327" "TBX20_000087" "g.35242299G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025389" "0" "30" "7" "35244154" "35244154" "subst" "0.00030471" "02330" "TBX20_000009" "g.35244154G>A" "" "" "" "TBX20(NM_001077653.2):c.931C>T (p.R311C, p.(Arg311Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025390" "0" "50" "7" "35289626" "35289626" "subst" "0" "02330" "TBX20_000088" "g.35289626G>A" "" "" "" "TBX20(NM_001077653.2):c.317C>T (p.T106I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036349" "0" "50" "7" "35271147" "35271147" "subst" "0" "02327" "TBX20_000089" "g.35271147G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036350" "0" "30" "7" "35280539" "35280539" "subst" "0.00827401" "01804" "TBX20_000015" "g.35280539G>T" "" "" "" "TBX20(NM_001077653.2):c.765C>A (p.I255=, p.(Ile255=))" "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 TBX20 ## Count = 108 "{{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}}" "0000117643" "00020863" "70" "891" "-2" "891" "-2" "c.891-2A>G" "r.spl" "p.?" "6i" "0000247958" "00020863" "10" "39" "0" "39" "0" "c.39T>C" "r.(?)" "p.(Ser13=)" "" "0000249475" "00020863" "30" "1006" "0" "1006" "0" "c.1006T>A" "r.(?)" "p.(Ser336Thr)" "" "0000249677" "00020863" "90" "146" "0" "146" "0" "c.146dup" "r.(?)" "p.(Ser50ValfsTer8)" "" "0000249798" "00020863" "50" "1275" "0" "1275" "0" "c.1275del" "r.(?)" "p.(Gln426SerfsTer17)" "" "0000251945" "00020863" "30" "999" "0" "999" "0" "c.999T>A" "r.(?)" "p.(Asn333Lys)" "" "0000253219" "00020863" "10" "39" "0" "39" "0" "c.39T>C" "r.(?)" "p.(Ser13=)" "" "0000253816" "00020863" "10" "814" "-28" "814" "-28" "c.814-28T>C" "r.(=)" "p.(=)" "" "0000311738" "00020863" "30" "1017" "0" "1017" "0" "c.1017A>C" "r.(?)" "p.(Thr339=)" "" "0000311739" "00020863" "30" "127" "16" "127" "16" "c.127+16C>A" "r.(=)" "p.(=)" "" "0000311740" "00020863" "50" "14" "0" "14" "0" "c.14C>T" "r.(?)" "p.(Ala5Val)" "" "0000311741" "00020863" "30" "258" "0" "258" "0" "c.258C>A" "r.(?)" "p.(Ile86=)" "" "0000311742" "00020863" "70" "456" "0" "456" "0" "c.456C>G" "r.(?)" "p.(Ile152Met)" "" "0000311743" "00020863" "10" "545" "13" "545" "13" "c.545+13A>G" "r.(=)" "p.(=)" "" "0000311744" "00020863" "50" "800" "0" "800" "0" "c.800A>G" "r.(?)" "p.(Tyr267Cys)" "" "0000311745" "00020863" "50" "931" "0" "931" "0" "c.931C>T" "r.(?)" "p.(Arg311Cys)" "" "0000314446" "00020863" "50" "1255" "0" "1255" "0" "c.1255C>T" "r.(?)" "p.(Pro419Ser)" "" "0000316296" "00020863" "50" "-1" "0" "-1" "0" "c.-1C>A" "r.(?)" "p.(=)" "" "0000316297" "00020863" "50" "1002" "0" "1002" "0" "c.1002A>T" "r.(?)" "p.(Arg334=)" "" "0000316298" "00020863" "10" "1017" "0" "1017" "0" "c.1017A>C" "r.(?)" "p.(Thr339=)" "" "0000316299" "00020863" "30" "1143" "0" "1143" "0" "c.1143C>T" "r.(?)" "p.(His381=)" "" "0000316300" "00020863" "30" "128" "-10" "128" "-9" "c.128-10_128-9del" "r.(=)" "p.(=)" "" "0000316301" "00020863" "30" "501" "0" "501" "0" "c.501C>T" "r.(?)" "p.(Ser167=)" "" "0000316302" "00020863" "10" "765" "0" "765" "0" "c.765C>A" "r.(?)" "p.(Ile255=)" "" "0000316303" "00020863" "50" "785" "0" "785" "0" "c.785C>T" "r.(?)" "p.(Thr262Met)" "" "0000316305" "00020863" "30" "813" "17" "813" "17" "c.813+17C>T" "r.(=)" "p.(=)" "" "0000316306" "00020863" "50" "931" "0" "931" "0" "c.931C>T" "r.(?)" "p.(Arg311Cys)" "" "0000531906" "00020863" "50" "1331" "0" "1331" "0" "c.1331C>T" "r.(?)" "p.(Thr444Met)" "" "0000531907" "00020863" "30" "1313" "0" "1313" "0" "c.1313A>G" "r.(?)" "p.(His438Arg)" "" "0000531908" "00020863" "50" "1309" "0" "1309" "0" "c.1309C>T" "r.(?)" "p.(Arg437Cys)" "" "0000531909" "00020863" "90" "1272" "0" "1272" "0" "c.1272T>A" "r.(?)" "p.(Tyr424Ter)" "" "0000531910" "00020863" "50" "1272" "0" "1272" "0" "c.1272T>A" "r.(?)" "p.(Tyr424Ter)" "" "0000531911" "00020863" "50" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Gln384Arg)" "" "0000531912" "00020863" "50" "1036" "0" "1036" "0" "c.1036C>T" "r.(?)" "p.(Leu346Phe)" "" "0000531913" "00020863" "30" "1032" "0" "1032" "0" "c.1032G>A" "r.(?)" "p.(Leu344=)" "" "0000531914" "00020863" "30" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Pro332Ser)" "" "0000531915" "00020863" "30" "951" "0" "951" "0" "c.951C>T" "r.(?)" "p.(Tyr317=)" "" "0000531916" "00020863" "30" "931" "0" "931" "0" "c.931C>T" "r.(?)" "p.(Arg311Cys)" "" "0000531917" "00020863" "10" "814" "-62" "814" "-62" "c.814-62A>G" "r.(=)" "p.(=)" "" "0000531918" "00020863" "10" "813" "145" "813" "145" "c.813+145dup" "r.(=)" "p.(=)" "" "0000531919" "00020863" "50" "662" "0" "662" "0" "c.662del" "r.(?)" "p.(Leu221Ter)" "" "0000531920" "00020863" "10" "655" "-44" "655" "-44" "c.655-44G>A" "r.(=)" "p.(=)" "" "0000531923" "00020863" "10" "545" "76" "545" "76" "c.545+76A>G" "r.(=)" "p.(=)" "" "0000531924" "00020863" "10" "545" "13" "545" "13" "c.545+13A>G" "r.(=)" "p.(=)" "" "0000531925" "00020863" "30" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Ser138=)" "" "0000531926" "00020863" "30" "380" "112" "380" "112" "c.380+112G>A" "r.(=)" "p.(=)" "" "0000531927" "00020863" "30" "128" "-38" "128" "-37" "c.128-38_128-37del" "r.(=)" "p.(=)" "" "0000531928" "00020863" "30" "128" "-75" "128" "-75" "c.128-75dup" "r.(=)" "p.(=)" "" "0000531930" "00020863" "30" "48" "0" "48" "0" "c.48C>T" "r.(?)" "p.(Asn16=)" "" "0000531931" "00020863" "10" "39" "0" "39" "0" "c.39T>C" "r.(?)" "p.(Ser13=)" "" "0000531932" "00020863" "50" "9" "0" "9" "0" "c.9C>A" "r.(?)" "p.(Phe3Leu)" "" "0000531933" "00020863" "10" "-186" "0" "-186" "0" "c.-186T>C" "r.(?)" "p.(=)" "" "0000611053" "00020863" "50" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(Arg420Ter)" "" "0000611054" "00020863" "70" "610" "0" "616" "0" "c.610_616del" "r.(?)" "p.(Glu204Ter)" "" "0000611055" "00020863" "30" "128" "-127" "128" "-127" "c.128-127dup" "r.(=)" "p.(=)" "" "0000621879" "00020863" "50" "1286" "0" "1286" "0" "c.1286C>T" "r.(?)" "p.(Pro429Leu)" "" "0000621880" "00020863" "50" "1048" "0" "1048" "0" "c.1048G>A" "r.(?)" "p.(Val350Ile)" "" "0000655825" "00020863" "90" "480" "0" "480" "0" "c.480C>A" "r.(?)" "p.(Tyr160Ter)" "" "0000655826" "00020863" "30" "207" "0" "207" "0" "c.207A>G" "r.(?)" "p.(Gly69=)" "" "0000678102" "00020863" "50" "112" "0" "112" "0" "c.112A>G" "r.(?)" "p.(Thr38Ala)" "" "0000689993" "00020863" "50" "341" "0" "341" "0" "c.341A>G" "r.(?)" "p.(His114Arg)" "" "0000689994" "00020863" "30" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Ala63Thr)" "" "0000689995" "00020863" "50" "4" "0" "4" "0" "c.4G>A" "r.(?)" "p.(Glu2Lys)" "" "0000721439" "00020863" "30" "1245" "0" "1245" "0" "c.1245A>C" "r.(?)" "p.(Ser415=)" "" "0000721440" "00020863" "50" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Leu197Phe)" "" "0000803142" "00020863" "50" "458" "0" "458" "0" "c.458T>C" "r.(?)" "p.(Val153Ala)" "" "0000803143" "00020863" "30" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Ser138=)" "" "0000803144" "00020863" "50" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Ser125Leu)" "" "0000803145" "00020863" "50" "4" "0" "4" "0" "c.4G>A" "r.(?)" "p.(Glu2Lys)" "" "0000860766" "00020863" "30" "687" "0" "687" "0" "c.687A>G" "r.(?)" "p.(Pro229=)" "" "0000878879" "00020863" "70" "514" "0" "514" "0" "c.514G>T" "r.(?)" "p.(Ala172Ser)" "3" "0000912741" "00020863" "50" "1310" "0" "1310" "0" "c.1310G>A" "r.(?)" "p.(Arg437His)" "" "0000912742" "00020863" "70" "654" "1" "654" "1" "c.654+1G>A" "r.spl?" "p.?" "" "0000932926" "00020863" "70" "1210" "0" "1256" "0" "c.1210_1256del" "r.(?)" "p.(Ser404AlafsTer?)" "" "0000957710" "00020863" "90" "820" "0" "820" "0" "c.820A>T" "r.(?)" "p.(Lys274*)" "" "0000957711" "00020863" "90" "456" "0" "456" "0" "c.456C>G" "r.(?)" "p.(Ile152Met)" "" "0000957712" "00020863" "90" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Gln195*)" "" "0000957713" "00020863" "90" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Asp176Asn)" "" "0000957714" "00020863" "90" "374" "0" "374" "0" "c.374C>G" "r.(?)" "p.(Ser125Trp)" "" "0000957715" "00020863" "90" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Glu143*)" "" "0000957720" "00020863" "90" "951" "0" "951" "0" "c.951C>A" "r.(?)" "p.(Tyr317*)" "" "0000957721" "00020863" "90" "785" "0" "785" "0" "c.785C>T" "r.(?)" "p.(Thr262Met)" "" "0000957845" "00020863" "70" "899" "0" "900" "0" "c.899_900del" "r.(?)" "p.(Val300GlyfsTer27)" "" "0000957938" "00020863" "90" "830" "0" "831" "0" "c.830_831dup" "r.(?)" "p.(Asp278Ter)" "" "0000957944" "00020863" "90" "380" "1" "380" "1" "c.380+1G>C" "r.spl" "p.?" "" "0000957945" "00020863" "90" "0" "0" "0" "0" "c.891-1260_*1{0}" "r.?" "p.?" "6i_8_" "0000957946" "00020863" "90" "710" "0" "713" "0" "c.710_713del" "r.(?)" "p.(Lys237Thrfs*9)" "" "0000957947" "00020863" "90" "374" "0" "374" "0" "c.374C>A" "r.(?)" "p.(Ser125Ter)" "" "0000964575" "00020863" "50" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Tyr184Cys)" "" "0000977683" "00020863" "50" "1331" "0" "1331" "0" "c.1331C>T" "r.(?)" "p.(Thr444Met)" "" "0000977684" "00020863" "50" "931" "0" "931" "0" "c.931C>T" "r.(?)" "p.(Arg311Cys)" "" "0000996466" "00020863" "30" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Ala441Thr)" "" "0000996467" "00020863" "50" "1313" "0" "1313" "0" "c.1313A>G" "r.(?)" "p.(His438Arg)" "" "0000996468" "00020863" "50" "1021" "0" "1021" "0" "c.1021T>C" "r.(?)" "p.(Ser341Pro)" "" "0000996469" "00020863" "10" "765" "0" "765" "0" "c.765C>A" "r.(?)" "p.(Ile255=)" "" "0000996470" "00020863" "10" "545" "13" "545" "13" "c.545+13A>G" "r.(=)" "p.(=)" "" "0000996471" "00020863" "50" "458" "0" "458" "0" "c.458T>C" "r.(?)" "p.(Val153Ala)" "" "0000996472" "00020863" "50" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Val140Met)" "" "0000996473" "00020863" "10" "39" "0" "39" "0" "c.39T>C" "r.(?)" "p.(Ser13=)" "" "0000996474" "00020863" "50" "4" "0" "4" "0" "c.4G>A" "r.(?)" "p.(Glu2Lys)" "" "0001014349" "00020863" "50" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.(Trp349*)" "" "0001014350" "00020863" "30" "207" "0" "207" "0" "c.207A>G" "r.(?)" "p.(Gly69=)" "" "0001022091" "00020863" "30" "1002" "0" "1002" "0" "c.1002A>T" "r.1002A>T" "p.Arg334=" "7" "0001025388" "00020863" "50" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Gln363*)" "" "0001025389" "00020863" "30" "931" "0" "931" "0" "c.931C>T" "r.(?)" "p.(Arg311Cys)" "" "0001025390" "00020863" "50" "317" "0" "317" "0" "c.317C>T" "r.(?)" "p.(Thr106Ile)" "" "0001036349" "00020863" "50" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287Trp)" "" "0001036350" "00020863" "30" "765" "0" "765" "0" "c.765C>A" "r.(?)" "p.(Ile255=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000073880" "0000117643" "0000418960" "0000878879" "0000448304" "0000957710" "0000448305" "0000957711" "0000448306" "0000957712" "0000448307" "0000957713" "0000448308" "0000957714" "0000448309" "0000957715" "0000448314" "0000957720" "0000448315" "0000957721" "0000448438" "0000957845" "0000448466" "0000957938" "0000448467" "0000957944" "0000448468" "0000957945" "0000448469" "0000957946" "0000448470" "0000957947" "0000462564" "0001022091"