### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TBX1) # 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}}" "TBX1" "T-box 1" "22" "q11.21" "unknown" "NC_000022.10" "UD_132118729076" "" "https://www.LOVD.nl/TBX1" "" "1" "11592" "6899" "602054" "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" "2025-08-26 16:47:29" "00006" "2025-10-10 16:21:07" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00020852" "TBX1" "transcript variant C" "003" "NM_080647.1" "" "NP_542378.1" "" "" "" "-129" "1953" "1488" "19744226" "19754855" "" "0000-00-00 00:00:00" "" "" "00026006" "TBX1" "transcript variant D (removed from reference sequence)" "000" "NM_001379200.1" "" "NP_001366129.1" "" "" "MANE select" "-66" "1982" "1515" "1" "1" "00006" "2025-08-26 16:47:48" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00389" "TOF" "tetralogy of Fallot (TOF)" "AD" "187500" "" "" "" "00006" "2014-05-30 08:58:25" "00006" "2021-10-27 15:03:22" "00472" "OAS" "oculo-auricular syndrome (OAS)" "" "612109" "" "" "" "00006" "2014-07-24 08:43:38" "00006" "2015-12-07 07:11:25" "00946" "-" "cardiomyopathy, hypertrophic, early-onset fatal" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "01046" "CTHM" "heart malformations, conotruncal (CTHM)" "" "217095" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01047" "DGS" "DiGeorge syndrome (DGS)" "AD" "188400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01048" "VCFS" "velocardiofacial syndrome" "AD" "192430" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-08-26 16:48:45" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" "" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "TBX1" "00389" "TBX1" "01046" "TBX1" "01047" "TBX1" "01048" ## Individuals ## Do not remove or alter this header ## ## Count = 51 "{{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}}" "00050438" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected father/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050514" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050542" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050613" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00269470" "" "" "" "1" "" "03508" "" "" "" "" "" "" "0" "" "" "" "" "00285597" "" "" "" "1" "" "00004" "{PMID:Xu 2014:24998776}, {PMID:Xu 2014:24998776}" "" "" "" "" "" "0" "" "" "" "" "00285598" "" "" "" "1" "" "00004" "{PMID:Yagi 2003:14585638}, {PMID:Zweier 2007:17273972}" "" "" "" "" "" "0" "" "" "" "" "00285599" "" "" "" "1" "" "00004" "{PMID:Gong 2001:11748311}" "" "" "" "" "" "0" "" "" "" "" "00285600" "" "" "" "1" "" "00004" "{PMID:Zweier 2007:17273972}, {PMID:Fung 2015:25569435}, {PMID:McDonald-McGinn 1993:20301696}" "" "" "" "" "" "0" "" "" "" "" "00285601" "" "" "" "1" "" "00004" "{PMID:Gong 2001:11748311}" "" "" "" "" "" "0" "" "" "" "" "00285602" "" "" "" "1" "" "00004" "{PMID:Gong 2001:11748311}" "" "" "" "" "" "0" "" "" "" "" "00285603" "" "" "" "1" "" "00004" "{PMID:Rauch 2004:15060116}" "" "" "" "" "" "0" "" "" "" "" "00285604" "" "" "" "1" "" "00004" "{PMID:Gong 2001:11748311}" "" "" "" "" "" "0" "" "" "" "" "00285605" "" "" "" "1" "" "00004" "{PMID:Yagi 2003:14585638}, {PMID:Stoller 2005:15703190}" "" "" "" "" "" "0" "" "" "" "" "00285606" "" "" "" "1" "" "00004" "{PMID:Torres-Juan 2007:17377518}" "" "" "" "" "" "0" "" "" "" "" "00285607" "" "" "" "1" "" "00004" "{PMID:Ogata 2014:24637876}" "" "" "" "" "" "0" "" "" "" "" "00285608" "" "" "" "1" "" "00004" "{PMID:Gong 2001:11748311}" "" "" "" "" "" "0" "" "" "" "" "00285609" "" "" "" "1" "" "00004" "{PMID:Gong 2001:11748311}" "" "" "" "" "" "0" "" "" "" "" "00285610" "" "" "" "1" "" "00004" "{PMID:Gong 2001:11748311}" "" "" "" "" "" "0" "" "" "" "" "00285611" "" "" "" "1" "" "00004" "{PMID:Gong 2001:11748311}" "" "" "" "" "" "0" "" "" "" "" "00308770" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00334295" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334299" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334322" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334345" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334366" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334370" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334371" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334396" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334483" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334486" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334487" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334500" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334506" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334528" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334546" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334849" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334855" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334859" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334876" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334903" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334946" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00388152" "" "" "" "1" "" "00000" "{PMID:Surl 2020:32165824}" "" "F" "" "Korea" "" "0" "" "" "" "9" "00408820" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "4 patients (4 male)" "M" "no" "Mexico" "" "" "" "none" "" "EFAV_45" "00408828" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "31 patients (19 male, 12 female)" "M" "no" "Mexico" "" "" "" "none" "" "EFAV_42" "00408832" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "1 patient" "M" "no" "Mexico" "" "0" "" "none" "" "EFAV_93" "00446769" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat43" "00449720" "" "" "" "1" "" "00006" "{PMID:Funato 2024:38608674}, {DOI:Funato 2024: 10.1016/j.ajhg.2024.03.012}" "" "" "" "- (not applicable)" "" "0" "" "" "" "" "00453807" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV483" "00466332" "" "" "" "1" "" "04887" "" "" "M" "" "China" "" "0" "" "" "" "patient" "00467273" "" "" "" "1" "" "00006" "{PMID:Soden 2014:25473036}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "CMH060" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 51 "{{individualid}}" "{{diseaseid}}" "00050438" "00198" "00050514" "00198" "00050542" "00198" "00050613" "00198" "00269470" "05109" "00285597" "00198" "00285598" "00198" "00285599" "00198" "00285600" "01048" "00285601" "00198" "00285602" "00198" "00285603" "00198" "00285604" "00198" "00285605" "00198" "00285606" "00198" "00285607" "00198" "00285608" "01047" "00285609" "01047" "00285610" "01048" "00285611" "01047" "00308770" "00000" "00334295" "05793" "00334299" "05793" "00334322" "05793" "00334345" "05793" "00334366" "05793" "00334370" "05793" "00334371" "05793" "00334396" "05793" "00334483" "05793" "00334486" "05793" "00334487" "05793" "00334500" "05793" "00334506" "05793" "00334528" "05793" "00334546" "05793" "00334849" "05793" "00334855" "05793" "00334859" "05793" "00334876" "05793" "00334903" "05793" "00334946" "05793" "00388152" "04214" "00408820" "00472" "00408828" "00472" "00408832" "00472" "00446769" "04173" "00449720" "00198" "00453807" "00152" "00466332" "00946" "00467273" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00152, 00198, 00389, 00472, 00946, 01046, 01047, 01048, 04173, 04214, 05109, 05793 ## Count = 50 "{{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}}" "0000037050" "00198" "00050438" "00006" "Unknown" "" "sparse scalp hair, fragile nails, abnormality of limb bone morphology, alopecia of scalp, high palate, global developmental delay, global developmental delay, abnormality of the heart" "" "" "" "" "" "" "" "" "" "" "" "0000037126" "00198" "00050514" "00006" "Isolated (sporadic)" "" "agenesis of corpus callosum, periventricular gray matter heterotopia, seizures, frontal bossing, eczema" "" "" "" "" "" "" "" "" "" "" "" "0000037154" "00198" "00050542" "00006" "Isolated (sporadic)" "" "abnormality of the nervous system, dysphagia, abnormality of the palpebral fissures, inverted nipples, redundant skin, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000037225" "00198" "00050613" "00006" "Isolated (sporadic)" "" "specific learning disability, congenital hypothyroidism, abnormality of metabolism/homeostasis, rhabdomyolysis, cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000207294" "05109" "00269470" "03508" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000217289" "00198" "00285597" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Conotruncal heart defects, isolated" "" "0000217290" "00198" "00285598" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Conotruncal anomaly face syndrome" "" "0000217291" "00198" "00285599" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cardiovascular defects" "" "0000217292" "00198" "00285601" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cardiovascular defects" "" "0000217293" "00198" "00285602" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cardiovascular defects" "" "0000217294" "00198" "00285603" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Ventricular septal defect" "" "0000217295" "00198" "00285604" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cardiovascular defects" "" "0000217296" "00198" "00285605" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Conotruncal anomaly face syndrome" "" "0000217297" "00198" "00285606" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "22q11.2 deletion syndrome features" "" "0000217298" "00198" "00285607" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "22q11.2 deletion syndrome features" "" "0000217978" "01047" "00285608" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "DiGeorge syndrome" "" "0000217979" "01047" "00285609" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "DiGeorge syndrome" "" "0000217980" "01047" "00285611" "00008" "Unknown" "" "velocardiofacial syndrome" "" "" "" "" "" "" "" "" "" "DiGeorge syndrome" "" "0000217981" "01048" "00285600" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Velocardiofacial syndrome" "" "0000217982" "01048" "00285610" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Velocardiofacial syndrome" "" "0000253105" "05793" "00334295" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253109" "05793" "00334299" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253132" "05793" "00334322" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253140" "05793" "00334345" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253161" "05793" "00334366" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253165" "05793" "00334370" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253166" "05793" "00334371" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253179" "05793" "00334396" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253196" "05793" "00334483" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253199" "05793" "00334486" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253200" "05793" "00334487" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253213" "05793" "00334500" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253214" "05793" "00334506" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253221" "05793" "00334528" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253236" "05793" "00334546" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253246" "05793" "00334849" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253252" "05793" "00334855" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253256" "05793" "00334859" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253269" "05793" "00334876" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253272" "05793" "00334903" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253287" "05793" "00334946" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000281745" "04214" "00388152" "00000" "Unknown" "5m" "Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Temporal MP bundle defect, Granular macular dystrophy, ERG: Extinguished, additional features: Transposition of the great arteries, Increased bilirubin, Increased kidney echo, Molar tooth sign" "" "" "" "" "" "" "" "" "Joubert syndrome" "Joubert syndrome" "" "0000300939" "00472" "00408820" "04221" "Unknown" "06y11m" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), ossicular chain abnormality (HPO:004452), conductive hearing impairment (HPO:0000405), supernumerary ribs (HPO:0005815)" "" "" "" "SALL1" "" "" "" "" "OAVS" "Microtia" "" "0000300946" "00472" "00408828" "04221" "Unknown" "02y03m" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452), hemifacial hypoplasia (HPO:0011332)." "" "" "" "TBX1" "" "" "" "" "OAVS" "Microtia" "" "0000300950" "00472" "00408832" "04221" "Unknown" "07y08m" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), sensorineural hearing impairment (HPO:0000407), ossicular chain abnormality (HPO:004452)." "" "" "" "TBX1" "" "" "" "" "OAVS" "Microtia" "" "0000335973" "04173" "00446769" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000338890" "00198" "00449720" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "morphologyskull base and vertebral structures" "" "0000342464" "00152" "00453807" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000351697" "00946" "00466332" "04887" "Familial, autosomal dominant" "58y" "" "38y" "55y" "" "" "" "" "" "" "" "" "" "0000352480" "00198" "00467273" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "velocardiofacial syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 51 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050383" "00050438" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050459" "00050514" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050487" "00050542" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050558" "00050613" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000270616" "00269470" "1" "03508" "03508" "2019-11-28 13:18:02" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000286747" "00285597" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286748" "00285598" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286749" "00285599" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286750" "00285600" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286751" "00285601" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286752" "00285602" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286753" "00285603" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286754" "00285604" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286755" "00285605" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286756" "00285606" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286757" "00285607" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286758" "00285608" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286759" "00285609" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286760" "00285610" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286761" "00285611" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000309915" "00308770" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000335522" "00334295" "1" "04011" "04011" "2021-02-27 05:21:44" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335526" "00334299" "1" "04011" "04011" "2021-02-27 06:15:53" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335550" "00334322" "1" "04011" "04011" "2021-02-27 14:19:19" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335573" "00334345" "1" "04011" "04011" "2021-02-28 03:12:10" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335594" "00334366" "1" "04011" "04011" "2021-02-28 08:30:06" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335598" "00334370" "1" "04011" "04011" "2021-02-28 08:48:16" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335599" "00334371" "1" "04011" "04011" "2021-02-28 08:59:47" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335625" "00334396" "1" "04011" "04011" "2021-02-28 12:46:25" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335712" "00334483" "1" "04011" "04011" "2021-03-01 03:55:08" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335715" "00334486" "1" "04011" "04011" "2021-03-01 04:54:33" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335716" "00334487" "1" "04011" "04011" "2021-03-01 04:59:43" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335729" "00334500" "1" "04011" "04011" "2021-03-01 07:35:19" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335736" "00334506" "1" "04011" "04011" "2021-03-01 09:43:11" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335756" "00334528" "1" "04011" "04011" "2021-03-01 11:49:53" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335775" "00334546" "1" "04011" "04011" "2021-03-01 14:30:48" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336079" "00334849" "1" "04011" "04011" "2021-03-02 03:23:09" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336084" "00334855" "1" "04011" "04011" "2021-03-02 05:16:36" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336088" "00334859" "1" "04011" "04011" "2021-03-02 06:20:19" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336105" "00334876" "1" "04011" "04011" "2021-03-02 09:44:29" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336132" "00334903" "1" "04011" "04011" "2021-03-02 12:26:37" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336175" "00334946" "1" "04011" "04011" "2021-03-02 14:23:28" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000389391" "00388152" "1" "00000" "03840" "2021-11-02 11:59:44" "" "" "SEQ-NG" "DNA" "blood" "targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing" "0000410085" "00408820" "1" "04221" "04221" "2022-04-28 18:29:02" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000410095" "00408828" "1" "04221" "04221" "2022-04-28 19:35:59" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000410096" "00408832" "1" "04221" "04221" "2022-04-28 19:45:03" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000448344" "00446769" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451312" "00449720" "1" "00006" "00006" "2024-05-03 19:59:49" "" "" "arraySNP" "DNA" "" "" "0000455419" "00453807" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467990" "00466332" "1" "04887" "04887" "2025-08-18 16:57:49" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000468936" "00467273" "1" "00006" "00006" "2025-10-10 16:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{geneid}}" "0000286747" "TBX1" "0000286748" "TBX1" "0000286749" "TBX1" "0000286750" "TBX1" "0000286751" "TBX1" "0000286752" "TBX1" "0000286753" "TBX1" "0000286754" "TBX1" "0000286755" "TBX1" "0000286756" "TBX1" "0000286757" "TBX1" "0000286758" "TBX1" "0000286759" "TBX1" "0000286760" "TBX1" "0000286761" "TBX1" "0000309915" "TBX1" "0000389391" "CEP290" "0000410085" "EYA1" "0000410085" "HOXA2" "0000410085" "SALL1" "0000410085" "TBX1" "0000410085" "TCOF1" "0000410095" "EYA1" "0000410095" "HOXA2" "0000410095" "SALL1" "0000410095" "TBX1" "0000410095" "TCOF1" "0000410096" "EYA1" "0000410096" "HOXA2" "0000410096" "SALL1" "0000410096" "TBX1" "0000410096" "TCOF1" "0000451312" "TBX1" "0000467990" "TBX1" ## 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 = 175 "{{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}}" "0000079363" "0" "90" "22" "18889039" "21464119" "del" "0" "00006" "ARVCF_000002" "g.18889039_21464119del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000079439" "0" "90" "22" "18839287" "21830562" "dup" "0" "00006" "ARVCF_000005" "g.18839287_21830562dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000079467" "0" "90" "22" "19023163" "21464119" "del" "0" "00006" "ARVCF_000004" "g.19023163_21464119del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000079538" "0" "90" "22" "18893563" "21464119" "del" "0" "00006" "ARVCF_000003" "g.18893563_21464119del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000247697" "0" "10" "22" "19753449" "19753449" "subst" "0.231178" "02330" "TBX1_000010" "g.19753449A>G" "" "" "" "TBX1(NM_080647.1):c.933A>G (p.A311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19765926A>G" "" "benign" "" "0000247698" "0" "10" "22" "19753961" "19753961" "subst" "0.0479031" "02330" "TBX1_000011" "g.19753961A>G" "" "" "" "TBX1(NM_080647.1):c.1059A>G (p.A353=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19766438A>G" "" "benign" "" "0000247699" "0" "10" "22" "19754091" "19754091" "subst" "0.249823" "02330" "TBX1_000013" "g.19754091A>C" "" "" "" "TBX1(NM_080647.1):c.1189A>C (p.N397H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19766568A>C" "" "benign" "" "0000248177" "0" "10" "22" "19753449" "19753449" "subst" "0.231178" "02325" "TBX1_000010" "g.19753449A>G" "" "" "" "TBX1(NM_080647.1):c.933A>G (p.A311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19765926A>G" "" "benign" "" "0000250880" "0" "10" "22" "19753449" "19753449" "subst" "0.231178" "02326" "TBX1_000010" "g.19753449A>G" "" "" "" "TBX1(NM_080647.1):c.933A>G (p.A311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19765926A>G" "" "benign" "" "0000250958" "0" "10" "22" "19753961" "19753961" "subst" "0.0479031" "02326" "TBX1_000011" "g.19753961A>G" "" "" "" "TBX1(NM_080647.1):c.1059A>G (p.A353=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19766438A>G" "" "benign" "" "0000250967" "0" "10" "22" "19754091" "19754091" "subst" "0.249823" "02326" "TBX1_000013" "g.19754091A>C" "" "" "" "TBX1(NM_080647.1):c.1189A>C (p.N397H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19766568A>C" "" "benign" "" "0000251054" "0" "10" "22" "19754072" "19754072" "subst" "0" "02326" "TBX1_000012" "g.19754072A>C" "" "" "" "TBX1(NM_080647.1):c.1170A>C (p.G390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19766549A>C" "" "benign" "" "0000254289" "0" "30" "22" "19766828" "19766828" "subst" "0.00023147" "01943" "TBX1_000038" "g.19766828A>G" "" "" "" "TBX1(NM_080646.1):c.1095A>G (p.A365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19779305A>G" "" "likely benign" "" "0000309076" "0" "10" "22" "19766782" "19766782" "subst" "0.212114" "02330" "TBX1_000037" "g.19766782C>T" "" "" "" "TBX1(NM_080646.2):c.1049C>T (p.T350M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19779259C>T" "" "benign" "" "0000309077" "0" "10" "22" "19748690" "19748690" "subst" "0.0233235" "02330" "TBX1_000002" "g.19748690G>A" "" "" "" "TBX1(NM_001379200.1):c.324G>A (p.(Ala108=)), TBX1(NM_080647.1):c.297G>A (p.A99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19761167G>A" "" "benign" "" "0000309078" "0" "30" "22" "19748798" "19748798" "subst" "0" "02330" "TBX1_000004" "g.19748798C>T" "" "" "" "TBX1(NM_080647.1):c.405C>T (p.A135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19761275C>T" "" "likely benign" "" "0000309079" "0" "10" "22" "19750773" "19750773" "subst" "0.242362" "02330" "TBX1_000005" "g.19750773T>C" "" "" "" "TBX1(NM_080647.1):c.420T>C (p.F140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19763250T>C" "" "benign" "" "0000309080" "0" "10" "22" "19751829" "19751829" "subst" "0.273833" "02330" "TBX1_000008" "g.19751829C>T" "" "" "" "TBX1(NM_080647.1):c.664C>T (p.L222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19764306C>T" "" "benign" "" "0000311737" "0" "10" "22" "19750773" "19750773" "subst" "0.242362" "02325" "TBX1_000005" "g.19750773T>C" "" "" "" "TBX1(NM_080647.1):c.420T>C (p.F140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19763250T>C" "" "benign" "" "0000314441" "0" "30" "22" "19748592" "19748592" "subst" "0" "02326" "TBX1_000001" "g.19748592C>A" "" "" "" "TBX1(NM_005992.1):c.199C>A (p.P67T), TBX1(NM_080647.1):c.199C>A (p.(Pro67Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19761069C>A" "" "likely benign" "" "0000314442" "0" "10" "22" "19748690" "19748690" "subst" "0.0233235" "02326" "TBX1_000002" "g.19748690G>A" "" "" "" "TBX1(NM_001379200.1):c.324G>A (p.(Ala108=)), TBX1(NM_080647.1):c.297G>A (p.A99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19761167G>A" "" "benign" "" "0000314443" "0" "10" "22" "19750773" "19750773" "subst" "0.242362" "02326" "TBX1_000005" "g.19750773T>C" "" "" "" "TBX1(NM_080647.1):c.420T>C (p.F140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19763250T>C" "" "benign" "" "0000314444" "0" "10" "22" "19751829" "19751829" "subst" "0.273833" "02326" "TBX1_000008" "g.19751829C>T" "" "" "" "TBX1(NM_080647.1):c.664C>T (p.L222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19764306C>T" "" "benign" "" "0000314445" "0" "30" "22" "19753444" "19753444" "subst" "0.00498191" "02326" "TBX1_000009" "g.19753444G>A" "" "" "" "TBX1(NM_080647.1):c.928G>A (p.G310S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19765921G>A" "" "likely benign" "" "0000316290" "0" "30" "22" "19754117" "19754117" "subst" "0.000221259" "01943" "TBX1_000014" "g.19754117C>T" "" "" "" "TBX1(NM_080647.1):c.1215C>T (p.P405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19766594C>T" "" "likely benign" "" "0000316291" "0" "30" "22" "19748714" "19748714" "subst" "0.000733662" "01943" "TBX1_000003" "g.19748714G>A" "" "" "" "TBX1(NM_080647.1):c.321G>A (p.V107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19761191G>A" "" "likely benign" "" "0000316292" "0" "30" "22" "19750797" "19750797" "subst" "0.0028023" "01943" "TBX1_000006" "g.19750797C>T" "" "" "" "TBX1(NM_080647.1):c.444C>T (p.F148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19763274C>T" "" "likely benign" "" "0000316293" "0" "30" "22" "19751670" "19751670" "subst" "0.00046977" "01943" "TBX1_000007" "g.19751670C>T" "" "" "" "TBX1(NM_080647.1):c.513-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19764147C>T" "" "likely benign" "" "0000337432" "0" "30" "22" "19744242" "19744242" "subst" "0" "02327" "TBX1_000015" "g.19744242G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19756719G>A" "" "likely benign" "" "0000337433" "0" "10" "22" "19747082" "19747082" "subst" "0" "02327" "TBX1_000016" "g.19747082G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19759559G>C" "" "benign" "" "0000337434" "0" "30" "22" "19748414" "19748414" "subst" "0" "02327" "TBX1_000017" "g.19748414C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19760891C>T" "" "likely benign" "" "0000337435" "0" "30" "22" "19766941" "19766941" "subst" "0.00133661" "02327" "TBX1_000040" "g.19766941C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19779418C>T" "" "likely benign" "" "0000337436" "0" "10" "22" "19767051" "19767051" "subst" "0" "02327" "TBX1_000041" "g.19767051G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19779528G>T" "" "benign" "" "0000339607" "0" "10" "22" "19750773" "19750773" "subst" "0.242362" "02327" "TBX1_000005" "g.19750773T>C" "" "" "" "TBX1(NM_080647.1):c.420T>C (p.F140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19763250T>C" "" "benign" "" "0000339608" "0" "10" "22" "19751829" "19751829" "subst" "0.273833" "02327" "TBX1_000008" "g.19751829C>T" "" "" "" "TBX1(NM_080647.1):c.664C>T (p.L222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19764306C>T" "" "benign" "" "0000339609" "0" "10" "22" "19753449" "19753449" "subst" "0.231178" "02327" "TBX1_000010" "g.19753449A>G" "" "" "" "TBX1(NM_080647.1):c.933A>G (p.A311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19765926A>G" "" "benign" "" "0000342589" "0" "30" "22" "19753430" "19753430" "subst" "0.000268607" "02327" "TBX1_000018" "g.19753430G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19765907G>A" "" "likely benign" "" "0000343748" "0" "10" "22" "19754091" "19754091" "subst" "0.249823" "02327" "TBX1_000013" "g.19754091A>C" "" "" "" "TBX1(NM_080647.1):c.1189A>C (p.N397H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19766568A>C" "" "benign" "" "0000344063" "0" "50" "22" "19753525" "19753525" "subst" "0" "02327" "TBX1_000019" "g.19753525G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19766002G>A" "" "VUS" "" "0000349466" "0" "10" "22" "19766782" "19766782" "subst" "0.212114" "02327" "TBX1_000037" "g.19766782C>T" "" "" "" "TBX1(NM_080646.2):c.1049C>T (p.T350M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19779259C>T" "" "benign" "" "0000571324" "0" "30" "22" "19747128" "19747128" "subst" "0.00195096" "02327" "TBX1_000022" "g.19747128C>T" "" "" "" "TBX1(NM_080647.1):c.-39C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19759605C>T" "" "likely benign" "" "0000571325" "0" "30" "22" "19748456" "19748456" "subst" "0.00171436" "01943" "TBX1_000023" "g.19748456G>T" "" "" "" "TBX1(NM_080647.1):c.63G>T (p.L21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19760933G>T" "" "likely benign" "" "0000571326" "0" "30" "22" "19748508" "19748508" "subst" "0" "01943" "TBX1_000024" "g.19748508G>A" "" "" "" "TBX1(NM_080647.1):c.115G>A (p.G39S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19760985G>A" "" "likely benign" "" "0000571327" "0" "30" "22" "19748563" "19748563" "subst" "0" "02327" "TBX1_000025" "g.19748563C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19761040C>T" "" "likely benign" "" "0000571328" "0" "30" "22" "19748600" "19748600" "subst" "0" "02326" "TBX1_000026" "g.19748600C>T" "" "" "" "TBX1(NM_080647.1):c.207C>T (p.A69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19761077C>T" "" "likely benign" "" "0000571329" "0" "30" "22" "19748702" "19748704" "del" "0" "01804" "TBX1_000027" "g.19748702_19748704del" "" "" "" "TBX1(NM_005992.1):c.303_305del (p.(Lys103del)), TBX1(NM_080647.1):c.309_311delGAA (p.K103del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19761179_19761181del" "" "likely benign" "" "0000571330" "0" "30" "22" "19748814" "19748814" "subst" "0.000274194" "02326" "TBX1_000028" "g.19748814C>T" "" "" "" "TBX1(NM_080647.1):c.410+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19761291C>T" "" "likely benign" "" "0000571331" "0" "30" "22" "19752541" "19752541" "subst" "0" "01804" "TBX1_000029" "g.19752541C>T" "" "" "" "TBX1(NM_005992.1):c.745C>T (p.(Arg249Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19765018C>T" "" "likely benign" "" "0000571332" "0" "30" "22" "19752609" "19752609" "subst" "0.00088154" "01943" "TBX1_000030" "g.19752609C>T" "" "" "" "TBX1(NM_080647.1):c.813C>T (p.T271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19765086C>T" "" "likely benign" "" "0000571333" "0" "50" "22" "19753444" "19753444" "subst" "0" "01943" "TBX1_000031" "g.19753444G>T" "" "" "" "TBX1(NM_080647.1):c.928G>T (p.G310C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19765921G>T" "" "VUS" "" "0000571334" "0" "30" "22" "19753905" "19753906" "del" "0" "02326" "TBX1_000032" "g.19753905_19753906del" "" "" "" "TBX1(NM_080647.1):c.1010-7_1010-6delTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19766382_19766383del" "" "likely benign" "" "0000571336" "0" "10" "22" "19753961" "19753961" "subst" "0.0479031" "02327" "TBX1_000011" "g.19753961A>G" "" "" "" "TBX1(NM_080647.1):c.1059A>G (p.A353=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19766438A>G" "" "benign" "" "0000571338" "0" "30" "22" "19754376" "19754376" "subst" "4.81468E-6" "01804" "TBX1_000035" "g.19754376T>A" "" "" "" "TBX1(NM_080647.1):c.1474T>A (p.(Tyr492Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19766853T>A" "" "likely benign" "" "0000571340" "0" "30" "22" "19766828" "19766828" "subst" "0.00023147" "02327" "TBX1_000038" "g.19766828A>G" "" "" "" "TBX1(NM_080646.1):c.1095A>G (p.A365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19779305A>G" "" "likely benign" "" "0000571341" "0" "30" "22" "19766828" "19766828" "subst" "0.00023147" "02326" "TBX1_000038" "g.19766828A>G" "" "" "" "TBX1(NM_080646.1):c.1095A>G (p.A365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19779305A>G" "" "likely benign" "" "0000571342" "0" "30" "22" "19766895" "19766895" "subst" "0.000158376" "02327" "TBX1_000039" "g.19766895G>A" "" "" "" "TBX1(NM_080646.1):c.1162G>A (p.V388M, p.(Val388Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19779372G>A" "" "likely benign" "" "0000571343" "0" "30" "22" "19770518" "19770518" "subst" "4.10186E-6" "01943" "TBX1_000042" "g.19770518G>C" "" "" "" "TBX1(NM_005992.1):c.1092G>C (p.L364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19782995G>C" "" "likely benign" "" "0000604394" "21" "90" "22" "19752530" "19752530" "subst" "8.12137E-6" "03508" "TBX1_000043" "g.19752530A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.19765007A>G" "" "pathogenic (dominant)" "" "0000618457" "0" "30" "22" "19747128" "19747128" "subst" "0.00195096" "02326" "TBX1_000022" "g.19747128C>T" "" "" "" "TBX1(NM_080647.1):c.-39C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19759605C>T" "" "likely benign" "" "0000618458" "0" "30" "22" "19748702" "19748704" "del" "0" "01943" "TBX1_000027" "g.19748702_19748704del" "" "" "" "TBX1(NM_005992.1):c.303_305del (p.(Lys103del)), TBX1(NM_080647.1):c.309_311delGAA (p.K103del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19761179_19761181del" "" "likely benign" "" "0000618459" "0" "50" "22" "19750816" "19750816" "subst" "0" "02325" "TBX1_000044" "g.19750816G>C" "" "" "" "TBX1(NM_080647.1):c.463G>C (p.D155H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19763293G>C" "" "VUS" "" "0000618460" "0" "50" "22" "19752611" "19752611" "subst" "0" "02327" "TBX1_000046" "g.19752611C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19765088C>A" "" "VUS" "" "0000618461" "0" "50" "22" "19754227" "19754227" "subst" "0.000445653" "01943" "TBX1_000047" "g.19754227G>C" "" "" "" "TBX1(NM_080647.1):c.1325G>C (p.R442P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19766704G>C" "" "VUS" "" "0000618462" "0" "30" "22" "19754267" "19754267" "subst" "3.01343E-5" "02327" "TBX1_000048" "g.19754267C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19766744C>T" "" "likely benign" "" "0000618463" "0" "30" "22" "19754277" "19754277" "subst" "5.38083E-5" "02327" "TBX1_000049" "g.19754277G>C" "" "" "" "TBX1(NM_080647.1):c.1375G>C (p.(Val459Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19766754G>C" "" "likely benign" "" "0000618464" "0" "30" "22" "19754285" "19754323" "del" "0" "02327" "TBX1_000050" "g.19754285_19754323del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19766762_19766800del" "" "likely benign" "" "0000618465" "0" "50" "22" "19754306" "19754308" "dup" "0" "02327" "TBX1_000051" "g.19754306_19754308dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19766783_19766785dup" "" "VUS" "" "0000618466" "0" "30" "22" "19754369" "19754369" "subst" "4.89615E-6" "02327" "TBX1_000052" "g.19754369C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19766846C>T" "" "likely benign" "" "0000624256" "0" "30" "22" "19766895" "19766895" "subst" "0.000158376" "01943" "TBX1_000039" "g.19766895G>A" "" "" "" "TBX1(NM_080646.1):c.1162G>A (p.V388M, p.(Val388Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19779372G>A" "" "likely benign" "" "0000642489" "1" "99" "22" "19748778" "19748778" "subst" "0" "00004" "TBX1_000053" "g.19748778G>A" "" "{DB:DVD}, {PMID:Xu 2014:24998776}, {PMID:Xu 2014:24998776}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.19761255G>A" "" "pathogenic" "" "0000642490" "1" "99" "22" "19750796" "19750796" "subst" "0" "00004" "TBX1_000054" "g.19750796T>A" "" "{DB:DVD}, {PMID:Yagi 2003:14585638}, {PMID:Zweier 2007:17273972}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.19763273T>A" "" "pathogenic" "" "0000642491" "1" "99" "22" "19751741" "19751741" "subst" "4.49335E-5" "00004" "TBX1_000055" "g.19751741C>T" "" "{DB:DVD}, {PMID:Gong 2001:11748311}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.19764218C>T" "" "pathogenic" "" "0000642492" "1" "99" "22" "19751747" "19751747" "subst" "0" "00004" "TBX1_000056" "g.19751747C>G" "" "{DB:DVD}, {PMID:Zweier 2007:17273972}, {PMID:Fung 2015:25569435}, {PMID:McDonald-McGinn 1993:20301696}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.19764224C>G" "" "pathogenic" "" "0000642493" "1" "77" "22" "19753326" "19753326" "subst" "2.08948E-5" "00004" "TBX1_000057" "g.19753326C>A" "" "{DB:DVD}, {PMID:Gong 2001:11748311}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.19765803C>A" "" "likely pathogenic" "" "0000642494" "1" "99" "22" "19753951" "19753951" "subst" "0.000204269" "00004" "TBX1_000033" "g.19753951G>A" "" "{DB:DVD}, {PMID:Gong 2001:11748311}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.19766428G>A" "" "pathogenic" "" "0000642495" "1" "77" "22" "19754037" "19754045" "del" "0" "00004" "TBX1_000058" "g.19754037_19754045del" "" "{DB:DVD}, {PMID:Rauch 2004:15060116}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.19766514_19766522del" "" "likely pathogenic" "" "0000642496" "1" "99" "22" "19754089" "19754089" "subst" "1.28495E-5" "00004" "TBX1_000059" "g.19754089C>T" "" "{DB:DVD}, {PMID:Gong 2001:11748311}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.19766566C>T" "" "pathogenic" "" "0000642497" "1" "99" "22" "19754125" "19754125" "del" "0" "00004" "TBX1_000060" "g.19754125del" "" "{DB:DVD}, {PMID:Yagi 2003:14585638}, {PMID:Stoller 2005:15703190}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.19766602del" "" "pathogenic" "" "0000642498" "1" "99" "22" "19754134" "19754134" "subst" "0" "00004" "TBX1_000061" "g.19754134T>C" "" "{DB:DVD}, {PMID:Torres-Juan 2007:17377518}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.19766611T>C" "" "pathogenic" "" "0000642499" "1" "99" "22" "19754155" "19754155" "del" "0" "00004" "TBX1_000062" "g.19754155del" "" "{DB:DVD}, {PMID:Ogata 2014:24637876}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.19766632del" "" "pathogenic" "" "0000642500" "1" "99" "22" "19754176" "19754183" "del" "0" "00004" "TBX1_000063" "g.19754176_19754183del" "" "{DB:DVD}, {PMID:Gong 2001:11748311}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.19766653_19766660del" "" "pathogenic" "" "0000642501" "1" "99" "22" "19754236" "19754250" "del" "0" "00004" "TBX1_000064" "g.19754236_19754250del" "" "{DB:DVD}, {PMID:Gong 2001:11748311}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.19766713_19766727del" "" "pathogenic" "" "0000642502" "1" "99" "22" "19754272" "19754274" "dup" "0" "00004" "TBX1_000065" "g.19754272_19754274dup" "" "{DB:DVD}, {PMID:Gong 2001:11748311}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.19766749_19766751dup" "" "pathogenic" "" "0000642503" "1" "99" "22" "19754306" "19754314" "del" "0" "00004" "TBX1_000066" "g.19754306_19754314del" "" "{DB:DVD}, {PMID:Gong 2001:11748311}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.19766783_19766791del" "" "pathogenic" "" "0000658875" "0" "30" "22" "19748492" "19748492" "subst" "0" "01943" "TBX1_000067" "g.19748492C>G" "" "" "" "TBX1(NM_080647.1):c.99C>G (p.P33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19760969C>G" "" "likely benign" "" "0000658876" "0" "30" "22" "19751662" "19751662" "subst" "0.000437351" "02326" "TBX1_000068" "g.19751662C>T" "" "" "" "TBX1(NM_080647.1):c.513-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19764139C>T" "" "likely benign" "" "0000658877" "0" "30" "22" "19751670" "19751670" "subst" "0.00046977" "02326" "TBX1_000007" "g.19751670C>T" "" "" "" "TBX1(NM_080647.1):c.513-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19764147C>T" "" "likely benign" "" "0000658878" "0" "30" "22" "19753970" "19753970" "subst" "0" "02326" "TBX1_000069" "g.19753970G>T" "" "" "" "TBX1(NM_080647.1):c.1068G>T (p.G356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19766447G>T" "" "likely benign" "" "0000681781" "0" "30" "22" "19754255" "19754255" "subst" "2.34392E-5" "01804" "TBX1_000070" "g.19754255T>G" "" "" "" "TBX1(NM_080647.1):c.1353T>G (p.(His451Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681782" "0" "30" "22" "19754276" "19754276" "subst" "6.60258E-6" "02326" "TBX1_000071" "g.19754276C>T" "" "" "" "TBX1(NM_080647.1):c.1374C>T (p.P458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684817" "0" "10" "22" "19753444" "19753444" "subst" "0.00498191" "00004" "TBX1_000009" "g.19753444G>A" "frequency 0.044" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.19765921G>A" "" "benign" "" "0000693105" "0" "10" "22" "19748690" "19748690" "subst" "0.0233235" "02327" "TBX1_000002" "g.19748690G>A" "" "" "" "TBX1(NM_001379200.1):c.324G>A (p.(Ala108=)), TBX1(NM_080647.1):c.297G>A (p.A99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000693106" "0" "50" "22" "19754211" "19754211" "subst" "8.26164E-5" "02325" "TBX1_000072" "g.19754211C>T" "" "" "" "TBX1(NM_080647.1):c.1309C>T (p.P437S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728034" "0" "30" "22" "19748411" "19748411" "subst" "0" "02327" "TBX1_000073" "g.19748411T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728035" "0" "50" "22" "19750759" "19750759" "subst" "8.1283E-6" "02325" "TBX1_000074" "g.19750759C>G" "" "" "" "TBX1(NM_080647.1):c.411-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728036" "0" "30" "22" "19754255" "19754255" "subst" "0.000644579" "01943" "TBX1_000075" "g.19754255T>C" "" "" "" "TBX1(NM_080647.1):c.1353T>C (p.H451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000733962" "0" "70" "22" "19753444" "19753444" "subst" "0.00498191" "04011" "TBX1_000009" "g.19753444G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000733980" "0" "70" "22" "19753444" "19753444" "subst" "0.00498191" "04011" "TBX1_000009" "g.19753444G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734060" "0" "70" "22" "19753444" "19753444" "subst" "0.00498191" "04011" "TBX1_000009" "g.19753444G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734128" "0" "70" "22" "19753444" "19753444" "subst" "0.00498191" "04011" "TBX1_000009" "g.19753444G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734192" "0" "70" "22" "19753444" "19753444" "subst" "0.00498191" "04011" "TBX1_000009" "g.19753444G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734213" "0" "70" "22" "19753444" "19753444" "subst" "0.00498191" "04011" "TBX1_000009" "g.19753444G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734218" "0" "70" "22" "19753444" "19753444" "subst" "0.00498191" "04011" "TBX1_000009" "g.19753444G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734290" "0" "70" "22" "19753444" "19753444" "subst" "0.00498191" "04011" "TBX1_000009" "g.19753444G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734453" "0" "70" "22" "19753444" "19753444" "subst" "0.00498191" "04011" "TBX1_000009" "g.19753444G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734462" "0" "70" "22" "19753444" "19753444" "subst" "0.00498191" "04011" "TBX1_000009" "g.19753444G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734469" "0" "70" "22" "19753444" "19753444" "subst" "0.00498191" "04011" "TBX1_000009" "g.19753444G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734516" "0" "70" "22" "19754254" "19754254" "subst" "0" "04011" "TBX1_000079" "g.19754254A>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734529" "0" "70" "22" "19753444" "19753444" "subst" "0.00498191" "04011" "TBX1_000009" "g.19753444G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734591" "0" "70" "22" "19752545" "19752545" "subst" "0" "04011" "TBX1_000077" "g.19752545A>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734666" "0" "70" "22" "19750844" "19750844" "subst" "1.21848E-5" "04011" "TBX1_000076" "g.19750844C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735032" "0" "70" "22" "19753444" "19753444" "subst" "0.00498191" "04011" "TBX1_000009" "g.19753444G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735065" "0" "70" "22" "19753444" "19753444" "subst" "0.00498191" "04011" "TBX1_000009" "g.19753444G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735082" "0" "70" "22" "19753444" "19753444" "subst" "0.00498191" "04011" "TBX1_000009" "g.19753444G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735140" "0" "70" "22" "19754110" "19754110" "subst" "0" "04011" "TBX1_000078" "g.19754110A>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735207" "0" "70" "22" "19750844" "19750844" "subst" "1.21848E-5" "04011" "TBX1_000076" "g.19750844C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735308" "0" "70" "22" "19753444" "19753444" "subst" "0.00498191" "04011" "TBX1_000009" "g.19753444G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000809486" "0" "50" "22" "19748539" "19748595" "del" "0" "02326" "TBX1_000080" "g.19748539_19748595del" "" "" "" "TBX1(NM_080647.1):c.146_202del (p.R49_P67del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809487" "0" "50" "22" "19752506" "19752506" "subst" "0" "02325" "TBX1_000081" "g.19752506A>G" "" "" "" "TBX1(NM_080647.1):c.710A>G (p.Y237C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000818415" "21" "50" "22" "19752530" "19752530" "subst" "8.12137E-6" "00000" "TBX1_000043" "g.19752530A>G" "" "{PMID:Surl 2020:32165824}" "" "c.734A>G:p.(Tyr245Cys)" "heterozygous" "Germline" "?" "" "0" "" "" "g.19765007A>G" "" "VUS" "ACMG" "0000847347" "0" "10" "22" "19754091" "19754091" "subst" "0.249823" "04221" "TBX1_000013" "g.19754091A>C" "31/49 patients (22 heterozygous, 9 homozygous)" "{PMID:Estandia-Ortega 2022:36362878}" "AciI+, FauI+, MwoI+" "" "ACMG BA1, BP1, BP4, BP6" "Germline/De novo (untested)" "?" "rs72646967" "0" "" "" "g.19766568A>C" "VCV000263351.11" "benign" "ACMG" "0000847348" "1" "30" "22" "19754299" "19754299" "subst" "0.000606732" "04221" "TBX1_000083" "g.19754299C>T" "1/49 patients" "{PMID:Estandia-Ortega 2022:36362878}" "BceAI+, Hpy99I+, NotI-" "" "ACMG PM2, BS2, BP1" "Germline/De novo (untested)" "?" "rs753613632" "0" "" "" "g.19766776C>T" "VCV000431834.6" "likely benign" "ACMG" "0000847752" "1" "30" "22" "19748461" "19748461" "subst" "0" "04221" "TBX1_000082" "g.19748461C>T" "1/49 patients" "{PMID:Estandia-Ortega 2022:36362878}" "BtgI-, HaeIII-, MspA1I-, SacII-, Sau96I-" "" "ACMG BP1, BP4, PP3" "Germline/De novo (untested)" "" "rs1415687525" "0" "" "" "g.19760938C>T" "VCV000959519.2" "likely benign" "ACMG" "0000856056" "0" "10" "22" "19748468" "19748468" "subst" "0.0265706" "02330" "TBX1_000084" "g.19748468G>T" "" "" "" "TBX1(NM_001379200.1):c.102G>T (p.(Gly34=)), TBX1(NM_080647.1):c.75G>T (p.G25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866721" "0" "50" "22" "19750806" "19750806" "subst" "1.62443E-5" "02326" "TBX1_000085" "g.19750806T>A" "" "" "" "TBX1(NM_080647.1):c.453T>A (p.D151E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866722" "0" "30" "22" "19750845" "19750845" "subst" "0.000714866" "01943" "TBX1_000045" "g.19750845G>A" "" "" "" "TBX1(NM_080647.1):c.492G>A (p.P164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866723" "0" "90" "22" "19753350" "19753350" "subst" "0" "02329" "TBX1_000086" "g.19753350T>C" "" "" "" "TBX1(NM_080647.1):c.908+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866724" "0" "30" "22" "19753960" "19753960" "subst" "5.17974E-5" "01943" "TBX1_000087" "g.19753960C>G" "" "" "" "TBX1(NM_080647.1):c.1058C>G (p.A353G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895585" "0" "50" "22" "19750798" "19750798" "subst" "0" "02329" "TBX1_000088" "g.19750798G>A" "" "" "" "TBX1(NM_080647.1):c.445G>A (p.G149S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895586" "0" "30" "22" "19751843" "19751843" "subst" "0.000365368" "02326" "TBX1_000089" "g.19751843C>T" "" "" "" "TBX1(NM_080647.1):c.678C>T (p.N226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895587" "0" "30" "22" "19753444" "19753444" "subst" "0.00498191" "02330" "TBX1_000009" "g.19753444G>A" "" "" "" "TBX1(NM_080647.1):c.928G>A (p.G310S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895588" "0" "30" "22" "19754010" "19754010" "subst" "0" "02326" "TBX1_000090" "g.19754010A>G" "" "" "" "TBX1(NM_080647.1):c.1108A>G (p.S370G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895589" "0" "30" "22" "19754227" "19754227" "subst" "0.000445653" "02326" "TBX1_000047" "g.19754227G>C" "" "" "" "TBX1(NM_080647.1):c.1325G>C (p.R442P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895590" "0" "30" "22" "19754228" "19754228" "subst" "0" "02327" "TBX1_000091" "g.19754228T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927108" "0" "30" "22" "19751837" "19751837" "subst" "6.1415E-5" "02330" "TBX1_000092" "g.19751837C>T" "" "" "" "TBX1(NM_080647.1):c.672C>T (p.D224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931244" "0" "50" "22" "19751682" "19751682" "subst" "8.22558E-6" "02325" "TBX1_000093" "g.19751682G>A" "" "" "" "TBX1(NM_080647.1):c.517G>A (p.A173T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931245" "0" "10" "22" "19752609" "19752609" "subst" "0.00088154" "02330" "TBX1_000030" "g.19752609C>T" "" "" "" "TBX1(NM_080647.1):c.813C>T (p.T271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000931246" "0" "30" "22" "19753957" "19753957" "subst" "0.000100619" "02326" "TBX1_000094" "g.19753957C>T" "" "" "" "TBX1(NM_001379200.1):c.1082C>T (p.(Pro361Leu)), TBX1(NM_080647.1):c.1055C>T (p.P352L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951536" "0" "30" "22" "19748798" "19748798" "subst" "0" "02326" "TBX1_000004" "g.19748798C>T" "" "" "" "TBX1(NM_080647.1):c.405C>T (p.A135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000957900" "0" "70" "22" "19750765" "19750765" "subst" "0" "00006" "TBX1_000095" "g.19750765C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.19763242C>T" "" "likely pathogenic" "" "0000970375" "0" "10" "22" "19750797" "19750797" "subst" "0.0028023" "02330" "TBX1_000006" "g.19750797C>T" "" "" "" "TBX1(NM_080647.1):c.444C>T (p.F148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000984099" "0" "50" "22" "19748451" "19748451" "subst" "0" "01804" "TBX1_000096" "g.19748451A>G" "" "" "" "TBX1(NM_001379200.1):c.85A>G (p.(Ser29Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984100" "0" "30" "22" "19748468" "19748468" "subst" "0.0265706" "01804" "TBX1_000084" "g.19748468G>T" "" "" "" "TBX1(NM_001379200.1):c.102G>T (p.(Gly34=)), TBX1(NM_080647.1):c.75G>T (p.G25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984101" "0" "30" "22" "19748690" "19748690" "subst" "0.0233235" "01804" "TBX1_000002" "g.19748690G>A" "" "" "" "TBX1(NM_001379200.1):c.324G>A (p.(Ala108=)), TBX1(NM_080647.1):c.297G>A (p.A99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984102" "0" "50" "22" "19748694" "19748694" "subst" "0" "01804" "TBX1_000097" "g.19748694G>T" "" "" "" "TBX1(NM_001379200.1):c.328G>T (p.(Val101Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984103" "0" "30" "22" "19750871" "19750871" "subst" "8.1283E-6" "01804" "TBX1_000098" "g.19750871C>T" "" "" "" "TBX1(NM_001379200.1):c.539+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984104" "0" "50" "22" "19753308" "19753308" "subst" "0" "02327" "TBX1_000099" "g.19753308C>T" "" "" "" "TBX1(NM_080647.1):c.868C>T (p.(Pro290Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984105" "0" "90" "22" "19753348" "19753348" "subst" "0" "02327" "TBX1_000100" "g.19753348G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000984106" "0" "50" "22" "19753349" "19753349" "subst" "0" "01804" "TBX1_000101" "g.19753349G>A" "" "" "" "TBX1(NM_001379200.1):c.935+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984107" "0" "30" "22" "19753957" "19753957" "subst" "0.000100619" "01804" "TBX1_000094" "g.19753957C>T" "" "" "" "TBX1(NM_001379200.1):c.1082C>T (p.(Pro361Leu)), TBX1(NM_080647.1):c.1055C>T (p.P352L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984108" "0" "50" "22" "19754163" "19754163" "subst" "0" "01804" "TBX1_000102" "g.19754163G>A" "" "" "" "TBX1(NM_001379200.1):c.1288G>A (p.(Ala430Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985157" "0" "70" "22" "19749508" "19749508" "subst" "0" "00006" "TBX1_000103" "g.19749508C>G" "" "{PMID:Funato 2024:38608674}, {DOI:Funato 2024: 10.1016/j.ajhg.2024.03.012}" "" "" "variant modulates gene expression, influencing morphology skull base and vertebral structures" "Germline" "" "rs41298798" "0" "" "" "g.19761985C>G" "" "benign (recessive)" "" "0001005896" "0" "30" "22" "19747128" "19747128" "subst" "0.00195096" "01804" "TBX1_000022" "g.19747128C>T" "" "" "" "TBX1(NM_080647.1):c.-39C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005897" "0" "30" "22" "19748592" "19748592" "subst" "0" "01804" "TBX1_000001" "g.19748592C>A" "" "" "" "TBX1(NM_005992.1):c.199C>A (p.P67T), TBX1(NM_080647.1):c.199C>A (p.(Pro67Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005898" "0" "50" "22" "19748694" "19748694" "subst" "0" "01804" "TBX1_000104" "g.19748694G>A" "" "" "" "TBX1(NM_080647.1):c.301G>A (p.(Val101Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005899" "0" "50" "22" "19751755" "19751755" "subst" "2.44606E-5" "01804" "TBX1_000105" "g.19751755C>T" "" "" "" "TBX1(NM_080647.1):c.590C>T (p.(Pro197Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005900" "0" "50" "22" "19753308" "19753308" "subst" "0" "01804" "TBX1_000099" "g.19753308C>T" "" "" "" "TBX1(NM_080647.1):c.868C>T (p.(Pro290Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005901" "0" "30" "22" "19753517" "19753517" "subst" "0" "01804" "TBX1_000106" "g.19753517C>A" "" "" "" "TBX1(NM_080647.1):c.1001C>A (p.(Thr334Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005902" "0" "50" "22" "19754107" "19754107" "subst" "0" "01804" "TBX1_000107" "g.19754107T>A" "" "" "" "TBX1(NM_080647.1):c.1205T>A (p.(Leu402Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005903" "0" "50" "22" "19754151" "19754151" "subst" "5.77521E-6" "01804" "TBX1_000108" "g.19754151A>C" "" "" "" "TBX1(NM_080647.1):c.1249A>C (p.(Lys417Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005904" "0" "30" "22" "19754277" "19754277" "subst" "5.38083E-5" "01804" "TBX1_000049" "g.19754277G>C" "" "" "" "TBX1(NM_080647.1):c.1375G>C (p.(Val459Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005905" "0" "30" "22" "19754295" "19754295" "subst" "0" "01804" "TBX1_000109" "g.19754295G>A" "" "" "" "TBX1(NM_080647.1):c.1393G>A (p.(Ala465Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005906" "0" "30" "22" "19754315" "19754323" "del" "0" "01804" "TBX1_000110" "g.19754315_19754323del" "" "" "" "TBX1(NM_080647.1):c.1413_1421delAGCTGCCGC (p.(Ala472_Ala474del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005907" "0" "30" "22" "19754315" "19754323" "dup" "0" "01804" "TBX1_000111" "g.19754315_19754323dup" "" "" "" "TBX1(NM_080647.1):c.1413_1421dupAGCTGCCGC (p.(Ala472_Ala474dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005908" "0" "50" "22" "19766895" "19766895" "subst" "0.000158376" "01804" "TBX1_000039" "g.19766895G>A" "" "" "" "TBX1(NM_080646.1):c.1162G>A (p.V388M, p.(Val388Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005909" "0" "30" "22" "19770480" "19770480" "subst" "4.10179E-5" "01804" "TBX1_000112" "g.19770480G>A" "" "" "" "TBX1(NM_005992.1):c.1054G>A (p.(Val352Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005910" "0" "50" "22" "19770520" "19770520" "subst" "4.10186E-6" "01804" "TBX1_000113" "g.19770520G>C" "" "" "" "TBX1(NM_005992.1):c.1094G>C (p.(Arg365Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007526" "0" "70" "22" "19750766" "19750766" "subst" "8.12658E-6" "00006" "TBX1_000114" "g.19750766G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_080646.2:c.413G>A" "" "Germline" "" "rs766405525" "0" "" "" "g.19763243G>A" "" "VUS" "" "0001027368" "0" "90" "22" "19753443" "19753443" "del" "0" "02325" "TBX1_000115" "g.19753443del" "" "" "" "TBX1(NM_080647.1):c.927delC (p.G310Afs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001043715" "0" "30" "22" "19753481" "19753481" "subst" "0" "01804" "TBX1_000116" "g.19753481G>T" "" "" "" "TBX1(NM_001379200.1):c.992G>T (p.(Arg331Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043716" "0" "30" "22" "19753951" "19753951" "subst" "0.000204269" "02326" "TBX1_000033" "g.19753951G>A" "" "" "" "TBX1(NM_080647.1):c.1049G>A (p.G350D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043717" "0" "30" "22" "19754308" "19754308" "subst" "8.82784E-6" "01804" "TBX1_000117" "g.19754308C>T" "" "" "" "TBX1(NM_001379200.1):c.1433C>T (p.(Ala478Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043718" "0" "50" "22" "19770454" "19770454" "subst" "8.20365E-6" "01804" "TBX1_000118" "g.19770454C>T" "" "" "" "TBX1(NM_005992.1):c.1028C>T (p.(Ser343Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047440" "1" "90" "22" "19747169" "19747193" "dup" "0" "04887" "TBX1_000119" "g.19747169_19747193dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.19759646_19759670dup" "" "pathogenic (dominant)" "ACMG" "0001049030" "1" "90" "22" "19753444" "19753444" "subst" "0.00498191" "00006" "TBX1_000009" "g.19753444G>A" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.928G>A" "" "Germline" "" "" "0" "" "" "g.19765921G>A" "" "pathogenic (dominant)" "" ## 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 TBX1 ## Count = 175 "{{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}}" "0000079363" "00020852" "00" "-855316" "0" "1711217" "0" "c.-855316_*1709729del" "r.0?" "p.0?" "" "0000079439" "00020852" "00" "-905068" "0" "2077660" "0" "c.-905068_*2076172dup" "r.?" "p.?" "" "0000079467" "00020852" "00" "-721192" "0" "1711217" "0" "c.-721192_*1709729del" "r.0?" "p.0?" "" "0000079538" "00020852" "00" "-850792" "0" "1711217" "0" "c.-850792_*1709729del" "r.0?" "p.0?" "" "0000247697" "00020852" "10" "933" "0" "933" "0" "c.933A>G" "r.(?)" "p.(Ala311=)" "" "0000247698" "00020852" "10" "1059" "0" "1059" "0" "c.1059A>G" "r.(?)" "p.(Ala353=)" "" "0000247699" "00020852" "10" "1189" "0" "1189" "0" "c.1189A>C" "r.(?)" "p.(Asn397His)" "" "0000248177" "00020852" "10" "933" "0" "933" "0" "c.933A>G" "r.(?)" "p.(Ala311=)" "" "0000250880" "00020852" "10" "933" "0" "933" "0" "c.933A>G" "r.(?)" "p.(Ala311=)" "" "0000250958" "00020852" "10" "1059" "0" "1059" "0" "c.1059A>G" "r.(?)" "p.(Ala353=)" "" "0000250967" "00020852" "10" "1189" "0" "1189" "0" "c.1189A>C" "r.(?)" "p.(Asn397His)" "" "0000251054" "00020852" "10" "1170" "0" "1170" "0" "c.1170A>C" "r.(?)" "p.(Gly390=)" "" "0000254289" "00020852" "30" "13926" "0" "13926" "0" "c.*12438A>G" "r.(=)" "p.(=)" "" "0000309076" "00020852" "10" "13880" "0" "13880" "0" "c.*12392C>T" "r.(=)" "p.(=)" "" "0000309077" "00020852" "10" "297" "0" "297" "0" "c.297G>A" "r.(?)" "p.(Ala99=)" "" "0000309078" "00020852" "30" "405" "0" "405" "0" "c.405C>T" "r.(?)" "p.(Ala135=)" "" "0000309079" "00020852" "10" "420" "0" "420" "0" "c.420T>C" "r.(?)" "p.(Phe140=)" "" "0000309080" "00020852" "10" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Leu222=)" "" "0000311737" "00020852" "10" "420" "0" "420" "0" "c.420T>C" "r.(?)" "p.(Phe140=)" "" "0000314441" "00020852" "30" "199" "0" "199" "0" "c.199C>A" "r.(?)" "p.(Pro67Thr)" "" "0000314442" "00020852" "10" "297" "0" "297" "0" "c.297G>A" "r.(?)" "p.(Ala99=)" "" "0000314443" "00020852" "10" "420" "0" "420" "0" "c.420T>C" "r.(?)" "p.(Phe140=)" "" "0000314444" "00020852" "10" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Leu222=)" "" "0000314445" "00020852" "30" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Ser)" "" "0000316290" "00020852" "30" "1215" "0" "1215" "0" "c.1215C>T" "r.(?)" "p.(Pro405=)" "" "0000316291" "00020852" "30" "321" "0" "321" "0" "c.321G>A" "r.(?)" "p.(Val107=)" "" "0000316292" "00020852" "30" "444" "0" "444" "0" "c.444C>T" "r.(?)" "p.(Phe148=)" "" "0000316293" "00020852" "30" "513" "-8" "513" "-8" "c.513-8C>T" "r.(=)" "p.(=)" "" "0000337432" "00020852" "30" "-113" "0" "-113" "0" "c.-113G>A" "r.(?)" "p.(=)" "" "0000337433" "00020852" "10" "-85" "0" "-85" "0" "c.-85G>C" "r.(?)" "p.(=)" "" "0000337434" "00020852" "30" "35" "-14" "35" "-14" "c.35-14C>T" "r.(=)" "p.(=)" "" "0000337435" "00020852" "30" "14039" "0" "14039" "0" "c.*12551C>T" "r.(=)" "p.(=)" "" "0000337436" "00020852" "10" "14149" "0" "14149" "0" "c.*12661G>T" "r.(=)" "p.(=)" "" "0000339607" "00020852" "10" "420" "0" "420" "0" "c.420T>C" "r.(?)" "p.(Phe140=)" "" "0000339608" "00020852" "10" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Leu222=)" "" "0000339609" "00020852" "10" "933" "0" "933" "0" "c.933A>G" "r.(?)" "p.(Ala311=)" "" "0000342589" "00020852" "30" "914" "0" "914" "0" "c.914G>A" "r.(?)" "p.(Arg305Gln)" "" "0000343748" "00020852" "10" "1189" "0" "1189" "0" "c.1189A>C" "r.(?)" "p.(Asn397His)" "" "0000344063" "00020852" "50" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Asp337Asn)" "" "0000349466" "00020852" "10" "13880" "0" "13880" "0" "c.*12392C>T" "r.(=)" "p.(=)" "" "0000571324" "00020852" "30" "-39" "0" "-39" "0" "c.-39C>T" "r.(?)" "p.(=)" "" "0000571325" "00020852" "30" "63" "0" "63" "0" "c.63G>T" "r.(?)" "p.(Leu21=)" "" "0000571326" "00020852" "30" "115" "0" "115" "0" "c.115G>A" "r.(?)" "p.(Gly39Ser)" "" "0000571327" "00020852" "30" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Ala57Val)" "" "0000571328" "00020852" "30" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Ala69=)" "" "0000571329" "00020852" "30" "309" "0" "311" "0" "c.309_311del" "r.(?)" "p.(Lys103del)" "" "0000571330" "00020852" "30" "410" "11" "410" "11" "c.410+11C>T" "r.(=)" "p.(=)" "" "0000571331" "00020852" "30" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Arg249Cys)" "" "0000571332" "00020852" "30" "813" "0" "813" "0" "c.813C>T" "r.(?)" "p.(Thr271=)" "" "0000571333" "00020852" "50" "928" "0" "928" "0" "c.928G>T" "r.(?)" "p.(Gly310Cys)" "" "0000571334" "00020852" "30" "1010" "-7" "1010" "-6" "c.1010-7_1010-6del" "r.(=)" "p.(=)" "" "0000571336" "00020852" "10" "1059" "0" "1059" "0" "c.1059A>G" "r.(?)" "p.(Ala353=)" "" "0000571338" "00020852" "30" "1474" "0" "1474" "0" "c.1474T>A" "r.(?)" "p.(Tyr492Asn)" "" "0000571340" "00020852" "30" "13926" "0" "13926" "0" "c.*12438A>G" "r.(=)" "p.(=)" "" "0000571341" "00020852" "30" "13926" "0" "13926" "0" "c.*12438A>G" "r.(=)" "p.(=)" "" "0000571342" "00020852" "30" "13993" "0" "13993" "0" "c.*12505G>A" "r.(=)" "p.(=)" "" "0000571343" "00020852" "30" "17616" "0" "17616" "0" "c.*16128G>C" "r.(=)" "p.(=)" "" "0000604394" "00020852" "90" "734" "0" "734" "0" "c.734A>G" "r.(?)" "p.(Tyr245Cys)" "6" "0000618457" "00020852" "30" "-39" "0" "-39" "0" "c.-39C>T" "r.(?)" "p.(=)" "" "0000618458" "00020852" "30" "309" "0" "311" "0" "c.309_311del" "r.(?)" "p.(Lys103del)" "" "0000618459" "00020852" "50" "463" "0" "463" "0" "c.463G>C" "r.(?)" "p.(Asp155His)" "" "0000618460" "00020852" "50" "815" "0" "815" "0" "c.815C>A" "r.(?)" "p.(Ala272Glu)" "" "0000618461" "00020852" "50" "1325" "0" "1325" "0" "c.1325G>C" "r.(?)" "p.(Arg442Pro)" "" "0000618462" "00020852" "30" "1365" "0" "1365" "0" "c.1365C>T" "r.(?)" "p.(His455=)" "" "0000618463" "00020852" "30" "1375" "0" "1375" "0" "c.1375G>C" "r.(?)" "p.(Val459Leu)" "" "0000618464" "00020852" "30" "1383" "0" "1421" "0" "c.1383_1421del" "r.(?)" "p.(Ala464_Ala476del)" "" "0000618465" "00020852" "50" "1404" "0" "1406" "0" "c.1404_1406dup" "r.(?)" "p.(Ala476dup)" "" "0000618466" "00020852" "30" "1467" "0" "1467" "0" "c.1467C>T" "r.(?)" "p.(Ser489=)" "" "0000624256" "00020852" "30" "13993" "0" "13993" "0" "c.*12505G>A" "r.(=)" "p.(=)" "" "0000642489" "00020852" "99" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Glu129Lys)" "3" "0000642490" "00020852" "99" "443" "0" "443" "0" "c.443T>A" "r.(?)" "p.(Phe148Tyr)" "4" "0000642491" "00020852" "99" "576" "0" "576" "0" "c.576C>T" "r.(=)" "p.(=)" "5" "0000642492" "00020852" "99" "582" "0" "582" "0" "c.582C>G" "r.(?)" "p.(His194Gln)" "5" "0000642493" "00020852" "77" "886" "0" "886" "0" "c.886C>A" "r.(=)" "p.(=)" "7" "0000642494" "00020852" "99" "1049" "0" "1049" "0" "c.1049G>A" "r.(?)" "p.(Gly350Asp)" "9" "0000642495" "00020852" "77" "1135" "0" "1143" "0" "c.1135_1143del" "r.(?)" "p.(Ala379_Gly381del)" "9" "0000642496" "00020852" "99" "1187" "0" "1187" "0" "c.1187C>T" "r.(?)" "p.(Pro396Leu)" "9" "0000642497" "00020852" "99" "1223" "0" "1223" "0" "c.1223del" "r.(?)" "p.(Ser408Trpfs*52)" "9" "0000642498" "00020852" "99" "1232" "0" "1232" "0" "c.1232T>C" "r.(?)" "p.(Leu411Pro)" "9" "0000642499" "00020852" "99" "1253" "0" "1253" "0" "c.1253del" "r.(?)" "p.(Tyr418Phefs*42)" "9" "0000642500" "00020852" "99" "1274" "0" "1281" "0" "c.1274_1281del" "r.(?)" "p.(His425Argfs*189)" "9" "0000642501" "00020852" "99" "1334" "0" "1348" "0" "c.1334_1348del" "r.(?)" "p.(Gly445_His449del)" "9" "0000642502" "00020852" "99" "1370" "0" "1372" "0" "c.1370_1372dup" "r.(?)" "p.(His457dup)" "9" "0000642503" "00020852" "99" "1404" "0" "1412" "0" "c.1404_1412del" "r.(?)" "p.(Ala474_Ala476del)" "9" "0000658875" "00020852" "30" "99" "0" "99" "0" "c.99C>G" "r.(?)" "p.(Pro33=)" "" "0000658876" "00020852" "30" "513" "-16" "513" "-16" "c.513-16C>T" "r.(=)" "p.(=)" "" "0000658877" "00020852" "30" "513" "-8" "513" "-8" "c.513-8C>T" "r.(=)" "p.(=)" "" "0000658878" "00020852" "30" "1068" "0" "1068" "0" "c.1068G>T" "r.(?)" "p.(Gly356=)" "" "0000681781" "00020852" "30" "1353" "0" "1353" "0" "c.1353T>G" "r.(?)" "p.(His451Gln)" "" "0000681782" "00020852" "30" "1374" "0" "1374" "0" "c.1374C>T" "r.(?)" "p.(Pro458=)" "" "0000684817" "00020852" "10" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Ser)" "" "0000693105" "00020852" "10" "297" "0" "297" "0" "c.297G>A" "r.(?)" "p.(Ala99=)" "" "0000693106" "00020852" "50" "1309" "0" "1309" "0" "c.1309C>T" "r.(?)" "p.(Pro437Ser)" "" "0000728034" "00020852" "30" "35" "-17" "35" "-17" "c.35-17T>G" "r.(=)" "p.(=)" "" "0000728035" "00020852" "50" "411" "-5" "411" "-5" "c.411-5C>G" "r.spl?" "p.?" "" "0000728036" "00020852" "30" "1353" "0" "1353" "0" "c.1353T>C" "r.(?)" "p.(His451=)" "" "0000733962" "00020852" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Ser)" "" "0000733980" "00020852" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Ser)" "" "0000734060" "00020852" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Ser)" "" "0000734128" "00020852" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Ser)" "" "0000734192" "00020852" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Ser)" "" "0000734213" "00020852" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Ser)" "" "0000734218" "00020852" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Ser)" "" "0000734290" "00020852" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Ser)" "" "0000734453" "00020852" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Ser)" "" "0000734462" "00020852" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Ser)" "" "0000734469" "00020852" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Ser)" "" "0000734516" "00020852" "50" "1352" "0" "1352" "0" "c.1352A>C" "r.(?)" "p.(His451Pro)" "" "0000734529" "00020852" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Ser)" "" "0000734591" "00020852" "50" "749" "0" "749" "0" "c.749A>G" "r.(?)" "p.(Lys250Arg)" "" "0000734666" "00020852" "50" "491" "0" "491" "0" "c.491C>T" "r.(?)" "p.(Pro164Leu)" "" "0000735032" "00020852" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Ser)" "" "0000735065" "00020852" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Ser)" "" "0000735082" "00020852" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Ser)" "" "0000735140" "00020852" "50" "1208" "0" "1208" "0" "c.1208A>G" "r.(?)" "p.(Glu403Gly)" "" "0000735207" "00020852" "50" "491" "0" "491" "0" "c.491C>T" "r.(?)" "p.(Pro164Leu)" "" "0000735308" "00020852" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Ser)" "" "0000809486" "00020852" "50" "146" "0" "202" "0" "c.146_202del" "r.(?)" "p.(Arg49_Pro67del)" "" "0000809487" "00020852" "50" "710" "0" "710" "0" "c.710A>G" "r.(?)" "p.(Tyr237Cys)" "" "0000818415" "00020852" "50" "734" "0" "734" "0" "c.734A>G" "r.(?)" "p.(Tyr245Cys)" "" "0000847347" "00020852" "10" "1189" "0" "1189" "0" "c.1189A>C" "r.(?)" "p.(Asn397His)" "9" "0000847348" "00020852" "30" "1397" "0" "1397" "0" "c.1397C>T" "r.(?)" "p.(Ala466Val)" "9" "0000847752" "00020852" "30" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Ala23Val)" "3" "0000856056" "00020852" "10" "75" "0" "75" "0" "c.75G>T" "r.(?)" "p.(Gly25=)" "" "0000866721" "00020852" "50" "453" "0" "453" "0" "c.453T>A" "r.(?)" "p.(Asp151Glu)" "" "0000866722" "00020852" "30" "492" "0" "492" "0" "c.492G>A" "r.(?)" "p.(Pro164=)" "" "0000866723" "00020852" "90" "908" "2" "908" "2" "c.908+2T>C" "r.spl?" "p.?" "" "0000866724" "00020852" "30" "1058" "0" "1058" "0" "c.1058C>G" "r.(?)" "p.(Ala353Gly)" "" "0000895585" "00020852" "50" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Gly149Ser)" "" "0000895586" "00020852" "30" "678" "0" "678" "0" "c.678C>T" "r.(?)" "p.(Asn226=)" "" "0000895587" "00020852" "30" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Ser)" "" "0000895588" "00020852" "30" "1108" "0" "1108" "0" "c.1108A>G" "r.(?)" "p.(Ser370Gly)" "" "0000895589" "00020852" "30" "1325" "0" "1325" "0" "c.1325G>C" "r.(?)" "p.(Arg442Pro)" "" "0000895590" "00020852" "30" "1326" "0" "1326" "0" "c.1326T>C" "r.(?)" "p.(Arg442=)" "" "0000927108" "00020852" "30" "672" "0" "672" "0" "c.672C>T" "r.(?)" "p.(Asp224=)" "" "0000931244" "00020852" "50" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Ala173Thr)" "" "0000931245" "00020852" "10" "813" "0" "813" "0" "c.813C>T" "r.(?)" "p.(Thr271=)" "" "0000931246" "00020852" "30" "1055" "0" "1055" "0" "c.1055C>T" "r.(?)" "p.(Pro352Leu)" "" "0000951536" "00020852" "30" "405" "0" "405" "0" "c.405C>T" "r.(?)" "p.(Ala135=)" "" "0000957900" "00020852" "70" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138Trp)" "" "0000970375" "00020852" "10" "444" "0" "444" "0" "c.444C>T" "r.(?)" "p.(Phe148=)" "" "0000984099" "00020852" "50" "58" "0" "58" "0" "c.58A>G" "r.(?)" "p.(Ser20Gly)" "" "0000984100" "00020852" "30" "75" "0" "75" "0" "c.75G>T" "r.(?)" "p.(Gly25=)" "" "0000984101" "00020852" "30" "297" "0" "297" "0" "c.297G>A" "r.(?)" "p.(Ala99=)" "" "0000984102" "00020852" "50" "301" "0" "301" "0" "c.301G>T" "r.(?)" "p.(Val101Leu)" "" "0000984103" "00020852" "30" "512" "6" "512" "6" "c.512+6C>T" "r.(=)" "p.(=)" "" "0000984104" "00020852" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Pro290Ser)" "" "0000984105" "00020852" "90" "908" "0" "908" "0" "c.908G>A" "r.(?)" "p.(Trp303*)" "" "0000984106" "00020852" "50" "908" "1" "908" "1" "c.908+1G>A" "r.spl?" "p.?" "" "0000984107" "00020852" "30" "1055" "0" "1055" "0" "c.1055C>T" "r.(?)" "p.(Pro352Leu)" "" "0000984108" "00020852" "50" "1261" "0" "1261" "0" "c.1261G>A" "r.(?)" "p.(Ala421Thr)" "" "0000985157" "00020852" "70" "410" "705" "410" "705" "c.410+705C>G" "r.?" "p.?" "" "0001005896" "00020852" "30" "-39" "0" "-39" "0" "c.-39C>T" "r.(?)" "p.(=)" "" "0001005897" "00020852" "30" "199" "0" "199" "0" "c.199C>A" "r.(?)" "p.(Pro67Thr)" "" "0001005898" "00020852" "50" "301" "0" "301" "0" "c.301G>A" "r.(?)" "p.(Val101Met)" "" "0001005899" "00020852" "50" "590" "0" "590" "0" "c.590C>T" "r.(?)" "p.(Pro197Leu)" "" "0001005900" "00020852" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Pro290Ser)" "" "0001005901" "00020852" "30" "1001" "0" "1001" "0" "c.1001C>A" "r.(?)" "p.(Thr334Lys)" "" "0001005902" "00020852" "50" "1205" "0" "1205" "0" "c.1205T>A" "r.(?)" "p.(Leu402Gln)" "" "0001005903" "00020852" "50" "1249" "0" "1249" "0" "c.1249A>C" "r.(?)" "p.(Lys417Gln)" "" "0001005904" "00020852" "30" "1375" "0" "1375" "0" "c.1375G>C" "r.(?)" "p.(Val459Leu)" "" "0001005905" "00020852" "30" "1393" "0" "1393" "0" "c.1393G>A" "r.(?)" "p.(Ala465Thr)" "" "0001005906" "00020852" "30" "1413" "0" "1421" "0" "c.1413_1421del" "r.(?)" "p.(Ala474_Ala476del)" "" "0001005907" "00020852" "30" "1413" "0" "1421" "0" "c.1413_1421dup" "r.(?)" "p.(Ala474_Ala476dup)" "" "0001005908" "00020852" "50" "13993" "0" "13993" "0" "c.*12505G>A" "r.(=)" "p.(=)" "" "0001005909" "00020852" "30" "17578" "0" "17578" "0" "c.*16090G>A" "r.(=)" "p.(=)" "" "0001005910" "00020852" "50" "17618" "0" "17618" "0" "c.*16130G>C" "r.(=)" "p.(=)" "" "0001007526" "00020852" "70" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138Gln)" "" "0001027368" "00020852" "90" "927" "0" "927" "0" "c.927del" "r.(?)" "p.(Gly310Alafs*6)" "" "0001043715" "00020852" "30" "965" "0" "965" "0" "c.965G>T" "r.(?)" "p.(Arg322Leu)" "" "0001043716" "00020852" "30" "1049" "0" "1049" "0" "c.1049G>A" "r.(?)" "p.(Gly350Asp)" "" "0001043717" "00020852" "30" "1406" "0" "1406" "0" "c.1406C>T" "r.(?)" "p.(Ala469Val)" "" "0001043718" "00020852" "50" "17552" "0" "17552" "0" "c.*16064C>T" "r.(=)" "p.(=)" "" "0001047440" "00020852" "90" "3" "0" "27" "0" "c.3_27dup" "r.(3_27dup)" "p.(Met10Alafs*167)" "2" "0001049030" "00020852" "90" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 51 "{{screeningid}}" "{{variantid}}" "0000050383" "0000079363" "0000050459" "0000079439" "0000050487" "0000079467" "0000050558" "0000079538" "0000270616" "0000604394" "0000286747" "0000642489" "0000286748" "0000642490" "0000286749" "0000642491" "0000286750" "0000642492" "0000286751" "0000642493" "0000286752" "0000642494" "0000286753" "0000642495" "0000286754" "0000642496" "0000286755" "0000642497" "0000286756" "0000642498" "0000286757" "0000642499" "0000286758" "0000642500" "0000286759" "0000642501" "0000286760" "0000642502" "0000286761" "0000642503" "0000309915" "0000684817" "0000335522" "0000733962" "0000335526" "0000733980" "0000335550" "0000734060" "0000335573" "0000734128" "0000335594" "0000734192" "0000335598" "0000734213" "0000335599" "0000734218" "0000335625" "0000734290" "0000335712" "0000734453" "0000335715" "0000734462" "0000335716" "0000734469" "0000335729" "0000734516" "0000335736" "0000734529" "0000335756" "0000734591" "0000335775" "0000734666" "0000336079" "0000735032" "0000336084" "0000735065" "0000336088" "0000735082" "0000336105" "0000735140" "0000336132" "0000735207" "0000336175" "0000735308" "0000389391" "0000818415" "0000410085" "0000847752" "0000410095" "0000847347" "0000410096" "0000847348" "0000448344" "0000957900" "0000451312" "0000985157" "0000455419" "0001007526" "0000467990" "0001047440" "0000468936" "0001049030"