### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TGFBR2) # 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}}" "TGFBR2" "transforming growth factor, beta receptor II (70/80kDa)" "3" "p22" "unknown" "NG_007490.1" "UD_132118911578" "" "http://www.LOVD.nl/TGFBR2" "" "1" "11773" "7048" "190182" "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/TGFBR2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2022-09-30 09:35:54" "00000" "2025-07-08 13:22:38" ## 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}}" "00025742" "TGFBR2" "transcript variant 2" "002" "NM_003242.5" "" "NP_003233.4" "" "" "" "-382" "4247" "1704" "30647994" "30735634" "00006" "2022-09-30 09:57:22" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00881" "HNPCC6" "cancer, colorectal, nonpolyposis, hereditary, type 6 (HNPCC-6)" "" "614331" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00882" "cancer, esophageal" "cancer, esophageal" "" "133239" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-08-28 08:25:09" "00883" "LDS2" "Loeys-Dietz syndrome, type 2 (LDS-2)" "AD" "610168" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00884" "LDS" "Loeys-Dietz syndrome (LDS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05464" "HNPCC (Lynch)" "cancer, colorectal, nonpolyposis, hereditary (Lynch syndrome)" "" "" "" "" "" "00006" "2018-08-02 08:56:34" "00006" "2025-07-24 09:00:47" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "TGFBR2" "00881" "TGFBR2" "00882" "TGFBR2" "00883" "TGFBR2" "00884" "TGFBR2" "05464" ## Individuals ## Do not remove or alter this header ## ## Count = 54 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00053070" "" "" "" "1" "" "00006" "{PMID:Carmignac 2014:23103230}, {DOI:Carmignac 2014:10.1016/j.ajhg.2012.10.002}" "2-generation family, 1 affected, unaffected non-carrier parents/sibs" "F" "no" "" ">08y" "0" "" "" "" "" "00090855" "" "" "" "3" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090856" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090858" "" "" "" "2" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090859" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090860" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090861" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090862" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090863" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090864" "" "" "" "2" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090865" "" "" "" "1" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090866" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090867" "" "" "" "5" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090868" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00144893" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00208842" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00245350" "" "" "" "2" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "patient has an affected son carrying the same variant" "F" "no" "Italy" "51y" "0" "" "" "" "F10, I" "00245351" "" "" "" "1" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "F" "no" "Sri Lanka" "03y" "0" "" "" "" "F11, I" "00245396" "" "" "" "1" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "F" "no" "Italy" "03y" "0" "" "" "" "F12, I" "00245398" "" "" "" "1" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "M" "no" "Italy" "09y" "0" "" "" "" "F13, I" "00245408" "" "" "" "2" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "patient has an affected father carrying the same variant" "F" "no" "Italy" "45y" "0" "" "" "" "F14, I" "00245409" "" "" "" "1" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "F" "no" "Italy" "36y" "0" "" "" "" "F15, I" "00245410" "" "" "" "1" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "M" "no" "Italy" "02y" "0" "" "" "" "F16, I" "00245411" "" "" "" "1" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "M" "no" "Italy" "37y" "0" "" "" "" "F17, I" "00245412" "" "" "" "1" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "F" "no" "Italy" "03y" "0" "" "" "" "F18, I" "00245413" "" "" "" "1" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "M" "no" "Italy" "12y" "0" "" "" "" "F19, I" "00293316" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293317" "" "" "" "47" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303327" "" "" "" "1" "" "02958" "" "" "M" "no" "India" "" "0" "" "" "" "P43" "00303328" "" "" "" "1" "" "02958" "" "" "F" "no" "India" "" "0" "" "" "" "P44" "00304944" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306223" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "128" "00324288" "" "" "" "1" "" "02958" "" "" "M" "no" "India" "" "0" "" "" "" "P56" "00398120" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat58" "00398121" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat59" "00398122" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat60" "00398205" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat150" "00418549" "" "" "" "2" "" "00006" "{PMID:Almpani 2022:34916229}" "family, proband" "" "" "United States" "" "0" "" "" "" "FamPatXIIIA" "00418550" "" "" "00418549" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "offspring" "" "" "United States" "" "0" "" "" "" "FamPatXIIIB" "00418551" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatXIV" "00418552" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatXV" "00418553" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatXVI" "00418554" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatXVII" "00418555" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatXVIII" "00418556" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatXIX" "00418557" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatXX" "00418558" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatXXI" "00418559" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatXXII" "00418560" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatXXIII" "00418561" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatXXIV" "00418562" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatXXV" "00419511" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "20161" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 53 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00053070" "00198" "00090855" "00091" "00090856" "00091" "00090858" "00091" "00090859" "00091" "00090860" "00091" "00090861" "00091" "00090862" "00091" "00090863" "00091" "00090864" "00091" "00090865" "00000" "00090866" "00091" "00090867" "00091" "00090868" "00091" "00144893" "00883" "00245350" "00883" "00245351" "00883" "00245396" "00883" "00245398" "00883" "00245408" "00883" "00245409" "00883" "00245410" "00883" "00245411" "00883" "00245412" "00883" "00245413" "00883" "00293316" "00198" "00293317" "00198" "00303327" "00884" "00303328" "00884" "00304944" "00198" "00306223" "00883" "00324288" "00884" "00398120" "00198" "00398121" "00198" "00398122" "00198" "00398205" "00198" "00418549" "00884" "00418550" "00884" "00418551" "00884" "00418552" "00884" "00418553" "00884" "00418554" "00884" "00418555" "00884" "00418556" "00884" "00418557" "00884" "00418558" "00884" "00418559" "00884" "00418560" "00884" "00418561" "00884" "00418562" "00884" "00419511" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00091, 00198, 00881, 00882, 00883, 00884, 01157, 05464 ## Count = 37 "{{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/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "" "" "" "0000039795" "00198" "00053070" "00006" "Isolated (sporadic)" "08y" "non-SGS Marfanoid-craniosynostosis; craniosynostosis, arachnodactyly, pectus deformity, scoliosis, no joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, no proptosis, downslanting palpebral fissures, no micrognathia/retrognathia, no intellectual disability, hernias, no loss of subcutaneous fat, valvular anomalies, aortic root dilatation required surgery in childhood, no myopia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157451" "00198" "00208842" "01164" "Unknown" "" "HP:0001083 (Ectopia lentis); HP:0004308 (Ventricular arrhythmia)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185299" "00883" "00245350" "02284" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185301" "00883" "00245351" "02284" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185342" "00883" "00245396" "02284" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185344" "00883" "00245398" "02284" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185352" "00883" "00245408" "02284" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185353" "00883" "00245409" "02284" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185354" "00883" "00245410" "02284" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185355" "00883" "00245411" "02284" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185356" "00883" "00245412" "02284" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185357" "00883" "00245413" "02284" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230404" "00884" "00303327" "02958" "Familial, autosomal dominant" "36y" "Aortic root dilatation (HP:0002616), Mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "" "" "" "LDS2" "Loeys-Dietz syndrome" "" "0000230405" "00884" "00303328" "02958" "Familial, autosomal dominant" "7m" "Aortic root dilatation (HP:0002616), Mitral valve prolapse (HP: 0001634), Cleft palate (HP:0000175)" "" "" "" "" "" "" "" "" "" "" "" "LDS2" "Loeys-Dietz syndrome" "" "0000232071" "00883" "00306223" "03695" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242857" "00884" "00324288" "02958" "Familial, autosomal dominant" "6m" "joint dislocation (HP:0001373)" "" "" "" "" "" "" "" "" "" "" "" "LDS2" "Loeys-Dietz syndrome" "" "0000291230" "00198" "00398120" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291231" "00198" "00398121" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291232" "00198" "00398122" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291315" "00198" "00398205" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000309886" "00884" "00418549" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS2" "Loeys-Dietz syndrome" "" "0000309887" "00884" "00418550" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS2" "Loeys-Dietz syndrome" "" "0000309888" "00884" "00418551" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS2" "Loeys-Dietz syndrome" "" "0000309889" "00884" "00418552" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS2" "Loeys-Dietz syndrome" "" "0000309890" "00884" "00418553" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS2" "Loeys-Dietz syndrome" "" "0000309891" "00884" "00418554" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS2" "Loeys-Dietz syndrome" "" "0000309892" "00884" "00418555" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS2" "Loeys-Dietz syndrome" "" "0000309893" "00884" "00418556" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS2" "Loeys-Dietz syndrome" "" "0000309894" "00884" "00418557" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS2" "Loeys-Dietz syndrome" "" "0000309895" "00884" "00418558" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS2" "Loeys-Dietz syndrome" "" "0000309896" "00884" "00418559" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS2" "Loeys-Dietz syndrome" "" "0000309897" "00884" "00418560" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS2" "Loeys-Dietz syndrome" "" "0000309898" "00884" "00418561" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS2" "Loeys-Dietz syndrome" "" "0000309899" "00884" "00418562" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS2" "Loeys-Dietz syndrome" "" "0000310792" "00198" "00419511" "02300" "Isolated (sporadic)" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" ## Screenings ## Do not remove or alter this header ## ## Count = 54 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000053018" "00053070" "1" "00006" "00006" "2015-10-30 13:48:23" "" "" "SEQ" "DNA" "" "" "0000091000" "00090855" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091001" "00090856" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091003" "00090858" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091004" "00090859" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091005" "00090860" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091006" "00090861" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091007" "00090862" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091008" "00090863" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091009" "00090864" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091010" "00090865" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091011" "00090866" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091012" "00090867" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091013" "00090868" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000145750" "00144893" "1" "01741" "01741" "2017-12-22 12:15:50" "" "" "SEQ-NG" "DNA" "" "" "0000209887" "00208842" "1" "01164" "01164" "2018-12-18 12:12:02" "" "" "SEQ-NG" "DNA" "" "" "0000246462" "00245350" "1" "02284" "02284" "2019-07-03 11:56:50" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000246463" "00245351" "1" "02284" "02284" "2019-07-03 12:10:35" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000246508" "00245396" "1" "02284" "02284" "2019-07-03 12:19:00" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000246509" "00245398" "1" "02284" "02284" "2019-07-03 12:24:43" "" "" "SEQ" "DNA" "Blood" "" "0000246520" "00245408" "1" "02284" "02284" "2019-07-03 13:58:21" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "Blood" "" "0000246521" "00245409" "1" "02284" "02284" "2019-07-03 14:37:30" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000246522" "00245410" "1" "02284" "02284" "2019-07-03 14:43:53" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000246523" "00245411" "1" "02284" "02284" "2019-07-03 14:49:28" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000246524" "00245412" "1" "02284" "02284" "2019-07-03 14:56:52" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000246525" "00245413" "1" "02284" "02284" "2019-07-03 15:01:23" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000294484" "00293316" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294485" "00293317" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304452" "00303327" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000304453" "00303328" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000306073" "00304944" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307356" "00306223" "1" "03695" "03695" "2020-07-11 10:24:15" "" "" "SEQ-NG" "DNA" "" "" "0000325478" "00324288" "1" "02958" "00006" "2020-12-04 13:50:44" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "blood" "screened FBN1, TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD3, SKI" "0000399363" "00398120" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399364" "00398121" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399365" "00398122" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399448" "00398205" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000419844" "00418549" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419845" "00418550" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419846" "00418551" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419847" "00418552" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419848" "00418553" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419849" "00418554" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419850" "00418555" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419851" "00418556" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419852" "00418557" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419853" "00418558" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419854" "00418559" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419855" "00418560" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419856" "00418561" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419857" "00418562" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000420815" "00419511" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 95 "{{screeningid}}" "{{geneid}}" "0000053018" "TGFBR2" "0000091000" "TGFBR2" "0000091001" "TGFBR2" "0000091003" "TGFBR2" "0000091004" "TGFBR2" "0000091005" "TGFBR2" "0000091006" "TGFBR2" "0000091007" "TGFBR2" "0000091008" "TGFBR2" "0000091009" "TGFBR2" "0000091010" "TGFBR2" "0000091011" "TGFBR2" "0000091012" "TGFBR2" "0000091013" "TGFBR2" "0000145750" "ACTA2" "0000145750" "COL3A1" "0000145750" "FBN1" "0000145750" "MYH11" "0000145750" "MYLK" "0000145750" "SMAD3" "0000145750" "TGFB2" "0000145750" "TGFBR1" "0000145750" "TGFBR2" "0000246462" "SMAD3" "0000246462" "TGFB2" "0000246462" "TGFB3" "0000246462" "TGFBR1" "0000246462" "TGFBR2" "0000246463" "SMAD3" "0000246463" "TGFB2" "0000246463" "TGFB3" "0000246463" "TGFBR1" "0000246463" "TGFBR2" "0000246508" "SMAD3" "0000246508" "TGFB2" "0000246508" "TGFB3" "0000246508" "TGFBR1" "0000246508" "TGFBR2" "0000246509" "SMAD3" "0000246509" "TGFB2" "0000246509" "TGFB3" "0000246509" "TGFBR1" "0000246509" "TGFBR2" "0000246520" "SMAD3" "0000246520" "TGFB2" "0000246520" "TGFB3" "0000246520" "TGFBR1" "0000246520" "TGFBR2" "0000246521" "SMAD3" "0000246521" "TGFB2" "0000246521" "TGFB3" "0000246521" "TGFBR1" "0000246521" "TGFBR2" "0000246522" "SMAD3" "0000246522" "TGFB2" "0000246522" "TGFB3" "0000246522" "TGFBR1" "0000246522" "TGFBR2" "0000246523" "SMAD3" "0000246523" "TGFB2" "0000246523" "TGFB3" "0000246523" "TGFBR1" "0000246523" "TGFBR2" "0000246524" "SMAD3" "0000246524" "TGFB2" "0000246524" "TGFB3" "0000246524" "TGFBR1" "0000246524" "TGFBR2" "0000246525" "SMAD3" "0000246525" "TGFB2" "0000246525" "TGFB3" "0000246525" "TGFBR1" "0000246525" "TGFBR2" "0000304452" "TGFBR1" "0000304453" "TGFBR2" "0000307356" "TGFBR2" "0000325478" "TGFBR2" "0000399363" "TGFBR2" "0000399364" "TGFBR2" "0000399365" "TGFBR2" "0000399448" "TGFBR2" "0000419844" "TGFBR2" "0000419845" "TGFBR2" "0000419846" "TGFBR2" "0000419847" "TGFBR2" "0000419848" "TGFBR2" "0000419849" "TGFBR2" "0000419850" "TGFBR2" "0000419851" "TGFBR2" "0000419852" "TGFBR2" "0000419853" "TGFBR2" "0000419854" "TGFBR2" "0000419855" "TGFBR2" "0000419856" "TGFBR2" "0000419857" "TGFBR2" ## 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 = 196 "{{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}}" "0000003834" "3" "30" "3" "30649907" "30649907" "subst" "0" "00037" "TGFBR2_000001" "g.30649907C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30608415C>A" "" "likely benign" "" "0000003835" "3" "30" "3" "30650064" "30650064" "subst" "0" "00037" "TGFBR2_000003" "g.30650064A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30608572A>G" "" "likely benign" "" "0000011817" "3" "30" "3" "30649907" "30649907" "subst" "0" "00037" "TGFBR2_000001" "g.30649907C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30608415C>A" "" "likely benign" "" "0000011818" "3" "30" "3" "30676017" "30676017" "subst" "0" "00037" "TGFBR2_000004" "g.30676017G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30634525G>C" "" "likely benign" "" "0000082950" "0" "90" "3" "30732970" "30732970" "subst" "0" "00006" "TGFBR2_000005" "g.30732970G>A" "" "{PMID:Carmignac 2014:23103230}, {DOI:Carmignac 2014:10.1016/j.ajhg.2012.10.002}" "" "NM_003242.5:Arg528His" "" "De novo" "-" "" "0" "" "" "g.30691478G>A" "" "pathogenic" "" "0000149129" "1" "50" "3" "30664714" "30664714" "subst" "0.00137255" "01816" "TGFBR2_000018" "g.30664714G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.30623222G>A" "" "VUS" "" "0000149130" "1" "50" "3" "30664718" "30664718" "subst" "4.10735E-6" "01816" "TGFBR2_000017" "g.30664718A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.30623226A>G" "" "VUS" "" "0000149132" "1" "50" "3" "30686250" "30686250" "subst" "0.000162756" "01816" "TGFBR2_000016" "g.30686250A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.30644758A>G" "" "VUS" "" "0000149133" "1" "50" "3" "30686304" "30686304" "subst" "0" "01816" "TGFBR2_000015" "g.30686304T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.30644812T>C" "" "VUS" "" "0000149134" "1" "50" "3" "30713180" "30713180" "subst" "4.06421E-6" "01816" "TGFBR2_000006" "g.30713180G>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.30671688G>C" "" "VUS" "" "0000149135" "1" "50" "3" "30713213" "30713213" "subst" "0" "01816" "TGFBR2_000007" "g.30713213A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.30671721A>G" "" "VUS" "" "0000149136" "1" "50" "3" "30713244" "30713244" "subst" "4.87864E-5" "01816" "TGFBR2_000008" "g.30713244G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.30671752G>A" "" "VUS" "" "0000149137" "1" "50" "3" "30713246" "30713246" "subst" "0.00155312" "01816" "TGFBR2_000009" "g.30713246G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.30671754G>A" "" "VUS" "" "0000149138" "1" "50" "3" "30713324" "30713324" "subst" "7.72974E-5" "01816" "TGFBR2_000010" "g.30713324G>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.30671832G>C" "" "VUS" "" "0000149139" "1" "50" "3" "30713603" "30713603" "subst" "0" "01816" "TGFBR2_000011" "g.30713603G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.30672111G>A" "" "VUS" "" "0000149140" "1" "50" "3" "30713667" "30713667" "subst" "8.13643E-6" "01816" "TGFBR2_000012" "g.30713667G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.30672175G>A" "" "VUS" "" "0000149141" "1" "50" "3" "30713794" "30713794" "subst" "0.00142709" "01816" "TGFBR2_000013" "g.30713794G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.30672302G>A" "" "VUS" "" "0000149142" "1" "50" "3" "30729942" "30729942" "subst" "0" "01816" "TGFBR2_000014" "g.30729942A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.30688450A>G" "" "VUS" "" "0000238256" "0" "70" "3" "30713561" "30713561" "subst" "0" "01741" "TGFBR2_000019" "g.30713561G>T" "" "" "" "886G>T (Asp296Tyr)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30672069G>T" "" "likely pathogenic" "" "0000248253" "0" "10" "3" "30691881" "30691881" "del" "0" "02325" "TGFBR2_000028" "g.30691881del" "" "" "" "TGFBR2(NM_001024847.2):c.458delA (p.K153Sfs*35), TGFBR2(NM_001024847.3):c.458delA (p.K153Sfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30650389del" "" "benign" "" "0000249902" "0" "10" "3" "30713674" "30713674" "subst" "0.00617982" "02329" "TGFBR2_000037" "g.30713674A>G" "" "" "" "TGFBR2(NM_001024847.2):c.1074A>G (p.L358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30672182A>G" "" "benign" "" "0000250088" "0" "10" "3" "30715608" "30715608" "subst" "0.00679429" "02329" "TGFBR2_000043" "g.30715608A>G" "" "" "" "TGFBR2(NM_001024847.2):c.1341A>G (p.A447=), TGFBR2(NM_003242.6):c.1266A>G (p.(Ala422=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30674116A>G" "" "benign" "" "0000251699" "0" "30" "3" "30691881" "30691881" "del" "0" "02326" "TGFBR2_000028" "g.30691881del" "" "" "" "TGFBR2(NM_001024847.2):c.458delA (p.K153Sfs*35), TGFBR2(NM_001024847.3):c.458delA (p.K153Sfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30650389del" "" "likely benign" "" "0000251836" "0" "30" "3" "30691872" "30691872" "subst" "2.22237E-5" "02326" "TGFBR2_000029" "g.30691872A>G" "" "" "" "TGFBR2(NM_001024847.2):c.449A>G (p.E150G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30650380A>G" "" "likely benign" "" "0000252410" "0" "70" "3" "30648376" "30648376" "subst" "0" "02326" "TGFBR2_000020" "g.30648376A>G" "" "" "" "TGFBR2(NM_001024847.2):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30606884A>G" "" "likely pathogenic" "" "0000252736" "0" "50" "3" "30691865" "30691865" "subst" "4.07153E-5" "02326" "TGFBR2_000027" "g.30691865A>T" "" "" "" "TGFBR2(NM_001024847.2):c.442A>T (p.M148L), TGFBR2(NM_003242.5):c.367A>T (p.(Met123Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30650373A>T" "" "VUS" "" "0000253126" "0" "10" "3" "30713674" "30713674" "subst" "0.00617982" "01943" "TGFBR2_000037" "g.30713674A>G" "" "" "" "TGFBR2(NM_001024847.2):c.1074A>G (p.L358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30672182A>G" "" "benign" "" "0000253582" "0" "10" "3" "30691881" "30691881" "del" "0" "01943" "TGFBR2_000030" "g.30691881del" "" "" "" "TGFBR2(NM_001024847.2):c.458delA (p.K153Sfs*35), TGFBR2(NM_001024847.3):c.458delA (p.K153Sfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30650389del" "" "benign" "" "0000255462" "0" "90" "3" "30729977" "30729977" "del" "0" "01943" "TGFBR2_000046" "g.30729977del" "" "" "" "TGFBR2(NM_001024847.2):c.1573delA (p.I525Ffs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30688485del" "" "pathogenic" "" "0000311815" "0" "10" "3" "30713126" "30713126" "subst" "0.300512" "02325" "TGFBR2_000033" "g.30713126T>A" "" "" "" "TGFBR2(NM_001024847.2):c.530-4T>A, TGFBR2(NM_001024847.3):c.530-4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30671634T>A" "" "benign" "" "0000313303" "0" "10" "3" "30713737" "30713737" "subst" "0.00380667" "02329" "TGFBR2_000038" "g.30713737C>T" "" "" "" "TGFBR2(NM_001024847.2):c.1137C>T (p.L379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30672245C>T" "" "benign" "" "0000313304" "0" "30" "3" "30664714" "30664714" "subst" "0.00137255" "02329" "TGFBR2_000018" "g.30664714G>A" "" "" "" "TGFBR2(NM_001024847.2):c.118G>A (p.D40N, p.(Asp40Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30623222G>A" "" "likely benign" "" "0000313305" "0" "30" "3" "30713794" "30713794" "subst" "0.00142709" "02329" "TGFBR2_000013" "g.30713794G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1194G>A (p.M398I, p.(Met398Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30672302G>A" "" "likely benign" "" "0000313306" "0" "10" "3" "30713842" "30713842" "subst" "0.054211" "02329" "TGFBR2_000041" "g.30713842C>T" "" "" "" "TGFBR2(NM_001024847.2):c.1242C>T (p.N414=), TGFBR2(NM_001024847.2):c.1242_1243delCGinsTG (p.N414_D415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30672350C>T" "" "benign" "" "0000313307" "0" "30" "3" "30715647" "30715647" "subst" "0" "02329" "TGFBR2_000044" "g.30715647T>C" "" "" "" "TGFBR2(NM_001024847.2):c.1380T>C (p.N460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30674155T>C" "" "likely benign" "" "0000313308" "0" "90" "3" "30732942" "30732942" "subst" "0" "02329" "TGFBR2_000047" "g.30732942G>T" "" "" "" "TGFBR2(NM_001024847.2):c.1630G>T (p.E544*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30691450G>T" "" "pathogenic" "" "0000313309" "0" "90" "3" "30732981" "30732981" "subst" "0" "02329" "TGFBR2_000048" "g.30732981C>T" "" "" "" "TGFBR2(NM_001024847.2):c.1669C>T (p.Q557*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30691489C>T" "" "pathogenic" "" "0000313310" "0" "30" "3" "30732989" "30732989" "subst" "0.00153704" "02329" "TGFBR2_000049" "g.30732989G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1677G>A (p.V559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30691497G>A" "" "likely benign" "" "0000313311" "0" "30" "3" "30686267" "30686267" "subst" "0" "02329" "TGFBR2_000025" "g.30686267C>T" "" "" "" "TGFBR2(NM_001024847.2):c.198C>T (p.N66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30644775C>T" "" "likely benign" "" "0000313312" "0" "10" "3" "30713126" "30713126" "subst" "0.300512" "02329" "TGFBR2_000033" "g.30713126T>A" "" "" "" "TGFBR2(NM_001024847.2):c.530-4T>A, TGFBR2(NM_001024847.3):c.530-4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30671634T>A" "" "benign" "" "0000313313" "0" "30" "3" "30713246" "30713246" "subst" "0.00155312" "02329" "TGFBR2_000009" "g.30713246G>A" "" "" "" "TGFBR2(NM_001024847.2):c.646G>A (p.(Val216Ile), p.V216I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30671754G>A" "" "likely benign" "" "0000314511" "0" "30" "3" "30713619" "30713619" "subst" "0.00109025" "02326" "TGFBR2_000036" "g.30713619C>T" "" "" "" "TGFBR2(NM_001024847.2):c.1019C>T (p.(Thr340Met), p.T340M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30672127C>T" "" "likely benign" "" "0000314512" "0" "30" "3" "30713794" "30713794" "subst" "0.00142709" "02326" "TGFBR2_000013" "g.30713794G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1194G>A (p.M398I, p.(Met398Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30672302G>A" "" "likely benign" "" "0000314513" "0" "70" "3" "30648474" "30648474" "subst" "0" "02326" "TGFBR2_000022" "g.30648474G>C" "" "" "" "TGFBR2(NM_001024847.2):c.94+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30606982G>C" "" "likely pathogenic" "" "0000316532" "0" "50" "3" "30713603" "30713603" "subst" "0" "01943" "TGFBR2_000035" "g.30713603G>T" "" "" "" "TGFBR2(NM_001024847.2):c.1003G>T (p.A335S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30672111G>T" "" "VUS" "" "0000316533" "0" "30" "3" "30664701" "30664701" "subst" "0" "01943" "TGFBR2_000023" "g.30664701G>A" "" "" "" "TGFBR2(NM_001024847.2):c.105G>A (p.M35I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30623209G>A" "" "likely benign" "" "0000316534" "0" "30" "3" "30713737" "30713737" "subst" "0.00380667" "01943" "TGFBR2_000038" "g.30713737C>T" "" "" "" "TGFBR2(NM_001024847.2):c.1137C>T (p.L379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30672245C>T" "" "likely benign" "" "0000316535" "0" "30" "3" "30664714" "30664714" "subst" "0.00137255" "01943" "TGFBR2_000018" "g.30664714G>A" "" "" "" "TGFBR2(NM_001024847.2):c.118G>A (p.D40N, p.(Asp40Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30623222G>A" "" "likely benign" "" "0000316536" "0" "30" "3" "30713794" "30713794" "subst" "0.00142709" "01943" "TGFBR2_000013" "g.30713794G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1194G>A (p.M398I, p.(Met398Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30672302G>A" "" "likely benign" "" "0000316537" "0" "30" "3" "30713800" "30713800" "subst" "4.54794E-5" "01943" "TGFBR2_000039" "g.30713800C>T" "" "" "" "TGFBR2(NM_001024847.2):c.1200C>T (p.I400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30672308C>T" "" "likely benign" "" "0000316538" "0" "50" "3" "30713834" "30713834" "subst" "0.000359008" "01943" "TGFBR2_000040" "g.30713834G>T" "" "" "" "TGFBR2(NM_001024847.2):c.1234G>T (p.V412L, p.(Val412Leu)), TGFBR2(NM_003242.6):c.1159G>T (p.V387L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30672342G>T" "" "VUS" "" "0000316539" "0" "10" "3" "30713842" "30713842" "subst" "0.054211" "01943" "TGFBR2_000041" "g.30713842C>T" "" "" "" "TGFBR2(NM_001024847.2):c.1242C>T (p.N414=), TGFBR2(NM_001024847.2):c.1242_1243delCGinsTG (p.N414_D415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30672350C>T" "" "benign" "" "0000316541" "0" "50" "3" "30713868" "30713868" "subst" "0" "01943" "TGFBR2_000042" "g.30713868T>G" "" "" "" "TGFBR2(NM_001024847.2):c.1268T>G (p.F423C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30672376T>G" "" "VUS" "" "0000316542" "0" "70" "3" "30715720" "30715720" "subst" "0" "01943" "TGFBR2_000045" "g.30715720C>T" "" "" "" "TGFBR2(NM_001024847.2):c.1453C>T (p.R485C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30674228C>T" "" "likely pathogenic" "" "0000316543" "0" "30" "3" "30732989" "30732989" "subst" "0.00153704" "01943" "TGFBR2_000049" "g.30732989G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1677G>A (p.V559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30691497G>A" "" "likely benign" "" "0000316544" "0" "30" "3" "30686270" "30686270" "subst" "0.000130185" "01943" "TGFBR2_000026" "g.30686270C>T" "" "" "" "TGFBR2(NM_001024847.2):c.201C>T (p.N67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30644778C>T" "" "likely benign" "" "0000316545" "0" "30" "3" "30648400" "30648400" "subst" "0" "01943" "TGFBR2_000021" "g.30648400C>T" "" "" "" "TGFBR2(NM_001024847.2):c.25C>T (p.L9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30606908C>T" "" "likely benign" "" "0000316546" "0" "90" "3" "30691881" "30691881" "dup" "0" "01943" "TGFBR2_000031" "g.30691881dup" "" "" "" "TGFBR2(NM_001024847.2):c.458dupA (p.P154Afs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30650389dup" "" "pathogenic" "" "0000316547" "0" "10" "3" "30713126" "30713126" "subst" "0.300512" "01943" "TGFBR2_000033" "g.30713126T>A" "" "" "" "TGFBR2(NM_001024847.2):c.530-4T>A, TGFBR2(NM_001024847.3):c.530-4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30671634T>A" "" "benign" "" "0000316548" "0" "50" "3" "30713403" "30713403" "subst" "0" "01943" "TGFBR2_000034" "g.30713403C>G" "" "" "" "TGFBR2(NM_001024847.2):c.803C>G (p.P268R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30671911C>G" "" "VUS" "" "0000337670" "0" "10" "3" "30686414" "30686414" "subst" "0.369668" "02327" "TGFBR2_000050" "g.30686414A>G" "" "" "" "TGFBR2(NM_001024847.2):c.338+7A>G, TGFBR2(NM_001024847.3):c.338+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30644922A>G" "" "benign" "" "0000337671" "0" "10" "3" "30713126" "30713126" "subst" "0.300512" "02327" "TGFBR2_000033" "g.30713126T>A" "" "" "" "TGFBR2(NM_001024847.2):c.530-4T>A, TGFBR2(NM_001024847.3):c.530-4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30671634T>A" "" "benign" "" "0000440127" "0" "50" "3" "30713690" "30713690" "subst" "8.95977E-5" "01164" "TGFBR2_000051" "g.30713690C>T" "" "" "" "" "not regarded causative for ectopia lentis phenotype, co-occurrence with 2 truncating variants in ADAMTSL4" "Germline" "" "rs761991787" "0" "" "" "g.30672198C>T" "" "VUS" "ACMG" "0000499187" "0" "90" "3" "30732996" "30732996" "subst" "0" "02284" "TGFBR2_000052" "g.30732996C>T" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "" "Germline" "yes" "rs104893809" "0" "" "" "g.30691504C>T" "{CV-RCV:000013331.18}" "pathogenic (dominant)" "ACMG" "0000499232" "0" "90" "3" "30732969" "30732969" "subst" "0" "02284" "TGFBR2_000053" "g.30732969C>T" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "This is a sporadic case (de novo mutation verified)." "De novo" "" "rs104893810" "0" "" "" "g.30691477C>T" "{CV-RCV:000013337.18}" "pathogenic (dominant)" "ACMG" "0000499233" "0" "90" "3" "30732985" "30732985" "subst" "0" "02284" "TGFBR2_000054" "g.30732985G>T" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "This is a sporadic patient (de novo mutation verified)." "De novo" "" "" "0" "" "" "g.30691493G>T" "" "pathogenic (dominant)" "ACMG" "0000499234" "0" "90" "3" "30715678" "30715678" "subst" "0" "02284" "TGFBR2_000055" "g.30715678G>T" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "This is a sporadic patient (de novo mutation varified)." "De novo" "" "" "0" "" "" "g.30674186G>T" "" "pathogenic (dominant)" "ACMG" "0000499245" "11" "90" "3" "30686413" "30686413" "subst" "8.13544E-6" "02284" "TGFBR2_000056" "g.30686413C>T" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "RT-PCR on patient\'s cDNA demonstrated that the variant creates a new splice donor site 6 bases downstream of the wild type donor with retention of 4 nucleotides (GTAA) of intron 3 containing a stop codon." "Germline" "yes" "rs758501054" "0" "" "" "g.30644921C>T" "" "likely pathogenic (dominant)" "ACMG" "0000499246" "0" "90" "3" "30732951" "30732951" "subst" "0" "02284" "TGFBR2_000057" "g.30732951G>A" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "" "Germline" "" "rs863223854" "0" "" "" "g.30691459G>A" "{CV-RCV:000704530.1}" "pathogenic (dominant)" "ACMG" "0000499247" "0" "90" "3" "30715678" "30715678" "subst" "0" "02284" "TGFBR2_000058" "g.30715678G>A" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "sporadic patient (de novo mutation verified)" "De novo" "" "rs886039551" "0" "" "" "g.30674186G>A" "{CV-RCV:000692078.1}" "pathogenic (dominant)" "ACMG" "0000499248" "0" "90" "3" "30713862" "30713862" "subst" "0" "02284" "TGFBR2_000060" "g.30713862G>A" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "" "Germline" "" "" "0" "" "" "g.30672370G>A" "" "pathogenic (dominant)" "ACMG" "0000499249" "0" "90" "3" "30713859" "30713859" "subst" "0" "02284" "TGFBR2_000061" "g.30713859T>C" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "" "Germline" "" "" "0" "" "" "g.30672367T>C" "" "pathogenic (dominant)" "ACMG" "0000499250" "0" "90" "3" "30715612" "30715612" "subst" "0" "02284" "TGFBR2_000059" "g.30715612T>G" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "" "Germline" "" "" "0" "" "" "g.30674120T>G" "" "pathogenic (dominant)" "ACMG" "0000518963" "0" "30" "3" "30686267" "30686267" "subst" "0" "02326" "TGFBR2_000025" "g.30686267C>T" "" "" "" "TGFBR2(NM_001024847.2):c.198C>T (p.N66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30644775C>T" "" "likely benign" "" "0000518964" "0" "10" "3" "30686414" "30686414" "subst" "0.369668" "01943" "TGFBR2_000050" "g.30686414A>G" "" "" "" "TGFBR2(NM_001024847.2):c.338+7A>G, TGFBR2(NM_001024847.3):c.338+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30644922A>G" "" "benign" "" "0000518965" "0" "10" "3" "30686414" "30686414" "subst" "0.369668" "02325" "TGFBR2_000050" "g.30686414A>G" "" "" "" "TGFBR2(NM_001024847.2):c.338+7A>G, TGFBR2(NM_001024847.3):c.338+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30644922A>G" "" "benign" "" "0000518966" "0" "10" "3" "30686414" "30686414" "subst" "0.369668" "02329" "TGFBR2_000050" "g.30686414A>G" "" "" "" "TGFBR2(NM_001024847.2):c.338+7A>G, TGFBR2(NM_001024847.3):c.338+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30644922A>G" "" "benign" "" "0000518969" "0" "50" "3" "30713564" "30713564" "subst" "4.07077E-6" "02326" "TGFBR2_000064" "g.30713564A>G" "" "" "" "TGFBR2(NM_001024847.2):c.964A>G (p.I322V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30672072A>G" "" "VUS" "" "0000518970" "0" "30" "3" "30713659" "30713659" "subst" "0.0001546" "02326" "TGFBR2_000065" "g.30713659C>T" "" "" "" "TGFBR2(NM_001024847.2):c.1059C>T (p.H353=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30672167C>T" "" "likely benign" "" "0000518972" "0" "90" "3" "30713706" "30713711" "del" "0" "01943" "TGFBR2_000066" "g.30713706_30713711del" "" "" "" "TGFBR2(NM_001024847.2):c.1106_1111delGGGAGG (p.W369_D371delinsY)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30672214_30672219del" "" "pathogenic" "" "0000518973" "0" "50" "3" "30713717" "30713717" "subst" "3.2799E-5" "02329" "TGFBR2_000067" "g.30713717C>T" "" "" "" "TGFBR2(NM_001024847.2):c.1117C>T (p.R373C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30672225C>T" "" "VUS" "" "0000518974" "0" "70" "3" "30713789" "30713789" "subst" "0" "02329" "TGFBR2_000068" "g.30713789A>G" "" "" "" "TGFBR2(NM_001024847.2):c.1189A>G (p.K397E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30672297A>G" "" "likely pathogenic" "" "0000518975" "0" "30" "3" "30713802" "30713802" "subst" "0" "01943" "TGFBR2_000069" "g.30713802T>C" "" "" "" "TGFBR2(NM_001024847.2):c.1202T>C (p.V401A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30672310T>C" "" "likely benign" "" "0000518976" "0" "50" "3" "30713834" "30713834" "subst" "0.00105255" "01943" "TGFBR2_000070" "g.30713834G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1234G>A (p.V412M, p.(Val412Met)), TGFBR2(NM_001024847.3):c.1234G>A (p.V412M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30672342G>A" "" "VUS" "" "0000518977" "0" "50" "3" "30713834" "30713834" "subst" "0.00105255" "01804" "TGFBR2_000070" "g.30713834G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1234G>A (p.V412M, p.(Val412Met)), TGFBR2(NM_001024847.3):c.1234G>A (p.V412M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30672342G>A" "" "VUS" "" "0000518978" "0" "50" "3" "30713834" "30713834" "subst" "0.000359008" "01804" "TGFBR2_000040" "g.30713834G>T" "" "" "" "TGFBR2(NM_001024847.2):c.1234G>T (p.V412L, p.(Val412Leu)), TGFBR2(NM_003242.6):c.1159G>T (p.V387L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30672342G>T" "" "VUS" "" "0000518979" "0" "10" "3" "30715608" "30715608" "subst" "0.00679429" "01804" "TGFBR2_000043" "g.30715608A>G" "" "" "" "TGFBR2(NM_001024847.2):c.1341A>G (p.A447=), TGFBR2(NM_003242.6):c.1266A>G (p.(Ala422=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30674116A>G" "" "benign" "" "0000518980" "0" "90" "3" "30715720" "30715720" "subst" "0" "02329" "TGFBR2_000045" "g.30715720C>T" "" "" "" "TGFBR2(NM_001024847.2):c.1453C>T (p.R485C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30674228C>T" "" "pathogenic" "" "0000518981" "0" "30" "3" "30729961" "30729961" "subst" "4.06653E-6" "01943" "TGFBR2_000071" "g.30729961T>C" "" "" "" "TGFBR2(NM_001024847.2):c.1557T>C (p.D519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30688469T>C" "" "likely benign" "" "0000518982" "0" "70" "3" "30729969" "30729969" "subst" "4.06716E-6" "02329" "TGFBR2_000072" "g.30729969G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1565G>A (p.R522Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30688477G>A" "" "likely pathogenic" "" "0000518983" "0" "30" "3" "30732905" "30732905" "subst" "0.00026118" "02329" "TGFBR2_000073" "g.30732905G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1600-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30691413G>A" "" "likely benign" "" "0000518984" "0" "50" "3" "30732925" "30732925" "subst" "0" "02329" "TGFBR2_000074" "g.30732925T>C" "" "" "" "TGFBR2(NM_001024847.2):c.1613T>C (p.V538A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30691433T>C" "" "VUS" "" "0000518985" "0" "90" "3" "30732942" "30732942" "subst" "0" "02329" "TGFBR2_000075" "g.30732942G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1630G>A (p.E544K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30691450G>A" "" "pathogenic" "" "0000518986" "0" "50" "3" "30732982" "30732982" "subst" "4.0665E-6" "01804" "TGFBR2_000076" "g.30732982A>C" "" "" "" "TGFBR2(NM_001024847.2):c.1670A>C (p.(Gln557Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30691490A>C" "" "VUS" "" "0000518987" "0" "50" "3" "30732985" "30732985" "subst" "0" "02326" "TGFBR2_000077" "g.30732985G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1673G>A (p.C558Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30691493G>A" "" "VUS" "" "0000518988" "0" "30" "3" "30733044" "30733044" "subst" "0.00178895" "01943" "TGFBR2_000078" "g.30733044T>A" "" "" "" "TGFBR2(NM_001024847.2):c.1732T>A (p.S578T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30691552T>A" "" "likely benign" "" "0000518989" "0" "30" "3" "30733046" "30733046" "subst" "2.03292E-5" "01943" "TGFBR2_000079" "g.30733046G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1734G>A (p.S578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30691554G>A" "" "likely benign" "" "0000608479" "0" "30" "3" "30713225" "30713225" "subst" "0" "02327" "TGFBR2_000080" "g.30713225A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30671733A>G" "" "likely benign" "" "0000608480" "0" "30" "3" "30713567" "30713567" "subst" "0" "02327" "TGFBR2_000081" "g.30713567A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30672075A>G" "" "likely benign" "" "0000608481" "0" "30" "3" "30713794" "30713794" "subst" "0.00142709" "01804" "TGFBR2_000013" "g.30713794G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1194G>A (p.M398I, p.(Met398Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30672302G>A" "" "likely benign" "" "0000608482" "0" "70" "3" "30713805" "30713805" "subst" "0" "02327" "TGFBR2_000082" "g.30713805A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30672313A>T" "" "likely pathogenic" "" "0000608483" "0" "50" "3" "30713874" "30713874" "subst" "0" "01804" "TGFBR2_000084" "g.30713874T>A" "" "" "" "TGFBR2(NM_001024847.2):c.1274T>A (p.L425H, p.(Leu425His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30672382T>A" "" "VUS" "" "0000621239" "0" "70" "3" "30713820" "30713820" "subst" "0" "02326" "TGFBR2_000083" "g.30713820G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1220G>A (p.S407N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30672328G>A" "" "likely pathogenic" "" "0000621240" "0" "30" "3" "30713834" "30713834" "subst" "0.00105255" "02325" "TGFBR2_000070" "g.30713834G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1234G>A (p.V412M, p.(Val412Met)), TGFBR2(NM_001024847.3):c.1234G>A (p.V412M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30672342G>A" "" "likely benign" "" "0000651173" "1" "90" "3" "30729962" "30729962" "subst" "0" "03575" "TGFBR2_000085" "g.30729962C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs104893819}" "Germline" "" "rs104893819" "0" "" "" "g.30688470C>T" "" "pathogenic" "" "0000651174" "1" "30" "3" "30734924" "30734924" "subst" "0" "03575" "TGFBR2_000086" "g.30734924A>C" "47/2786 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "47 heterozygous; {DB:CLININrs1803446}" "Germline" "" "rs1803446" "0" "" "" "g.30693432A>C" "" "likely benign" "" "0000654871" "0" "30" "3" "30664684" "30664684" "subst" "8.47364E-6" "01943" "TGFBR2_000087" "g.30664684T>C" "" "" "" "TGFBR2(NM_001024847.2):c.95-7T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30623192T>C" "" "likely benign" "" "0000654872" "0" "50" "3" "30713741" "30713741" "subst" "8.38392E-6" "02325" "TGFBR2_000088" "g.30713741C>T" "" "" "" "TGFBR2(NM_001024847.3):c.1141C>T (p.R381W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30672249C>T" "" "VUS" "" "0000667895" "0" "70" "3" "30715720" "30715720" "subst" "0" "02958" "TGFBR2_000089" "g.30715720C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.30674228C>A" "" "likely pathogenic (dominant)" "" "0000667896" "0" "70" "3" "30715721" "30715721" "subst" "0" "02958" "TGFBR2_000090" "g.30715721G>C" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.30674229G>C" "" "likely pathogenic (dominant)" "" "0000669761" "3" "30" "3" "30734924" "30734924" "subst" "0" "03575" "TGFBR2_000086" "g.30734924A>C" "1/2786 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs1803446}" "Germline" "" "rs1803446" "0" "" "" "g.30693432A>C" "" "likely benign" "" "0000673982" "21" "70" "3" "30664689" "30664689" "subst" "0" "03695" "TGFBR2_000091" "g.30664689A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000689020" "0" "30" "3" "30691936" "30691936" "subst" "8.14724E-6" "02326" "TGFBR2_000092" "g.30691936C>T" "" "" "" "TGFBR2(NM_001024847.2):c.513C>T (p.N171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689021" "0" "50" "3" "30713144" "30713144" "subst" "8.12731E-6" "02326" "TGFBR2_000093" "g.30713144A>T" "" "" "" "TGFBR2(NM_001024847.2):c.544A>T (p.N182Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000708487" "0" "70" "3" "30713777" "30713777" "subst" "0" "02958" "TGFBR2_000094" "g.30713777T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.30672285T>C" "" "likely pathogenic (dominant)" "" "0000719334" "0" "50" "3" "30664742" "30664742" "subst" "1.64159E-5" "02329" "TGFBR2_000024" "g.30664742G>A" "" "" "" "TGFBR2(NM_001024847.2):c.146G>A (p.(Arg49Lys), p.R49K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719335" "0" "30" "3" "30713834" "30713834" "subst" "0.00105255" "02329" "TGFBR2_000070" "g.30713834G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1234G>A (p.V412M, p.(Val412Met)), TGFBR2(NM_001024847.3):c.1234G>A (p.V412M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719336" "0" "30" "3" "30713834" "30713834" "subst" "0.000359008" "02325" "TGFBR2_000040" "g.30713834G>T" "" "" "" "TGFBR2(NM_001024847.2):c.1234G>T (p.V412L, p.(Val412Leu)), TGFBR2(NM_003242.6):c.1159G>T (p.V387L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719337" "0" "30" "3" "30715868" "30715868" "subst" "0" "02329" "TGFBR2_000095" "g.30715868C>A" "" "" "" "TGFBR2(NM_001024847.2):c.1471+130C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719338" "0" "30" "3" "30732904" "30732904" "subst" "0.000530656" "01804" "TGFBR2_000096" "g.30732904C>T" "" "" "" "TGFBR2(NM_001024847.2):c.1600-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719339" "0" "30" "3" "30732905" "30732905" "subst" "0.00026118" "01943" "TGFBR2_000073" "g.30732905G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1600-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719340" "0" "90" "3" "30732970" "30732970" "subst" "0" "02329" "TGFBR2_000005" "g.30732970G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1658G>A (p.R553H), TGFBR2(NM_003242.6):c.1583G>A (p.R528H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719341" "0" "90" "3" "30732996" "30732996" "subst" "0" "02326" "TGFBR2_000052" "g.30732996C>T" "" "" "" "TGFBR2(NM_001024847.2):c.1684C>T (p.R562C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801148" "0" "50" "3" "30686292" "30686292" "subst" "0" "02326" "TGFBR2_000097" "g.30686292C>G" "" "" "" "TGFBR2(NM_001024847.2):c.223C>G (p.L75V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801149" "0" "30" "3" "30686424" "30686424" "subst" "0.000171063" "02326" "TGFBR2_000098" "g.30686424A>C" "" "" "" "TGFBR2(NM_001024847.2):c.338+17A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801150" "0" "30" "3" "30713619" "30713619" "subst" "0.00109025" "01804" "TGFBR2_000036" "g.30713619C>T" "" "" "" "TGFBR2(NM_001024847.2):c.1019C>T (p.(Thr340Met), p.T340M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801151" "0" "70" "3" "30713789" "30713789" "subst" "0" "02326" "TGFBR2_000068" "g.30713789A>G" "" "" "" "TGFBR2(NM_001024847.2):c.1189A>G (p.K397E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000801152" "0" "30" "3" "30729867" "30729867" "subst" "0" "02326" "TGFBR2_000099" "g.30729867T>C" "" "" "" "TGFBR2(NM_001024847.2):c.1472-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000831724" "11" "70" "3" "30729969" "30729969" "subst" "4.06716E-6" "00006" "TGFBR2_000072" "g.30729969G>A" "103/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30688477G>A" "" "likely pathogenic" "" "0000831725" "1" "70" "3" "30732942" "30732942" "subst" "0" "00006" "TGFBR2_000047" "g.30732942G>T" "103/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.30691450G>T" "" "likely pathogenic" "" "0000831726" "1" "70" "3" "30732981" "30732981" "subst" "0" "00006" "TGFBR2_000048" "g.30732981C>T" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.30691489C>T" "" "likely pathogenic" "" "0000831809" "1" "50" "3" "30713717" "30713717" "subst" "3.2799E-5" "00006" "TGFBR2_000067" "g.30713717C>T" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.30672225C>T" "" "VUS" "" "0000850222" "0" "30" "3" "30652292" "30652292" "subst" "0" "02329" "TGFBR2_000100" "g.30652292G>C" "" "" "" "TGFBR2(NM_001024847.2):c.94+3823G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850223" "0" "10" "3" "30655625" "30655626" "dup" "0" "02329" "TGFBR2_000101" "g.30655625_30655626dup" "" "" "" "TGFBR2(NM_001024847.2):c.94+7156_94+7157dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850224" "0" "30" "3" "30703075" "30703075" "subst" "0" "02329" "TGFBR2_000103" "g.30703075C>T" "" "" "" "TGFBR2(NM_001024847.2):c.530-10055C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850225" "0" "30" "3" "30713246" "30713246" "subst" "0.00155312" "02326" "TGFBR2_000009" "g.30713246G>A" "" "" "" "TGFBR2(NM_001024847.2):c.646G>A (p.(Val216Ile), p.V216I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850226" "0" "50" "3" "30713874" "30713874" "subst" "0" "01943" "TGFBR2_000084" "g.30713874T>A" "" "" "" "TGFBR2(NM_001024847.2):c.1274T>A (p.L425H, p.(Leu425His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850227" "0" "30" "3" "30721129" "30721129" "subst" "0" "02329" "TGFBR2_000104" "g.30721129A>G" "" "" "" "TGFBR2(NM_001024847.2):c.1471+5391A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850228" "0" "30" "3" "30722484" "30722484" "subst" "0" "02329" "TGFBR2_000105" "g.30722484C>T" "" "" "" "TGFBR2(NM_001024847.2):c.1471+6746C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858946" "0" "30" "3" "30664714" "30664714" "subst" "0.00137255" "01804" "TGFBR2_000018" "g.30664714G>A" "" "" "" "TGFBR2(NM_001024847.2):c.118G>A (p.D40N, p.(Asp40Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858947" "0" "50" "3" "30664742" "30664742" "subst" "1.64159E-5" "01804" "TGFBR2_000024" "g.30664742G>A" "" "" "" "TGFBR2(NM_001024847.2):c.146G>A (p.(Arg49Lys), p.R49K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858948" "0" "90" "3" "30686237" "30686237" "subst" "8.14312E-6" "01804" "TGFBR2_000102" "g.30686237A>G" "" "" "" "TGFBR2(NM_001024847.2):c.170-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858949" "0" "30" "3" "30730013" "30730013" "subst" "4.07681E-5" "01943" "TGFBR2_000106" "g.30730013G>C" "" "" "" "TGFBR2(NM_001024847.2):c.1599+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858950" "0" "30" "3" "30730065" "30730065" "subst" "0" "01943" "TGFBR2_000107" "g.30730065A>G" "" "" "" "TGFBR2(NM_001024847.2):c.1599+62A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000880016" "0" "70" "3" "30715598" "30715598" "subst" "0" "00006" "TGFBR2_000108" "g.30715598T>A" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30674106T>A" "" "likely pathogenic" "" "0000880017" "1" "70" "3" "30715598" "30715598" "subst" "0" "00006" "TGFBR2_000108" "g.30715598T>A" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30674106T>A" "" "likely pathogenic" "" "0000880018" "0" "70" "3" "30715712" "30715712" "subst" "0" "00006" "TGFBR2_000113" "g.30715712T>A" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30674220T>A" "" "likely pathogenic" "" "0000880019" "0" "90" "3" "30715619" "30715619" "subst" "0" "00006" "TGFBR2_000111" "g.30715619C>A" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30674127C>A" "" "pathogenic" "" "0000880020" "0" "50" "3" "30715643" "30715643" "subst" "0" "00006" "TGFBR2_000112" "g.30715643T>C" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30674151T>C" "" "VUS" "" "0000880021" "0" "90" "3" "30732970" "30732970" "subst" "0" "00006" "TGFBR2_000005" "g.30732970G>A" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30691478G>A" "" "pathogenic" "" "0000880022" "0" "90" "3" "30732970" "30732970" "subst" "0" "00006" "TGFBR2_000005" "g.30732970G>A" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30691478G>A" "" "pathogenic" "" "0000880023" "0" "90" "3" "30732970" "30732970" "subst" "0" "00006" "TGFBR2_000005" "g.30732970G>A" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30691478G>A" "" "pathogenic" "" "0000880024" "0" "90" "3" "30713660" "30713660" "subst" "9.76539E-5" "00006" "TGFBR2_000109" "g.30713660G>A" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30672168G>A" "" "pathogenic" "" "0000880025" "0" "90" "3" "30732970" "30732970" "subst" "0" "00006" "TGFBR2_000005" "g.30732970G>A" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30691478G>A" "" "pathogenic" "" "0000880026" "0" "50" "3" "30713865" "30713865" "subst" "0" "00006" "TGFBR2_000110" "g.30713865A>G" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30672373A>G" "" "VUS" "" "0000880027" "0" "90" "3" "30715678" "30715678" "subst" "0" "00006" "TGFBR2_000058" "g.30715678G>A" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30674186G>A" "" "pathogenic" "" "0000880028" "0" "70" "3" "30729962" "30729962" "subst" "0" "00006" "TGFBR2_000114" "g.30729962C>G" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30688470C>G" "" "likely pathogenic" "" "0000880029" "0" "90" "3" "30732970" "30732970" "subst" "0" "00006" "TGFBR2_000005" "g.30732970G>A" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30691478G>A" "" "pathogenic" "" "0000881174" "0" "90" "3" "30732969" "30732969" "subst" "0" "02300" "TGFBR2_000053" "g.30732969C>T" "" "{PMID:Marinakis 2021:34008892}" "" "NM_001024847.2:c.1657C>T (Arg553Cys)" "ACMG PM1, PM2, PM5, PP2, PP3, PP5" "Germline/De novo (untested)" "" "rs104893810" "0" "" "" "g.30691477C>T" "" "pathogenic (dominant)" "ACMG" "0000885709" "0" "90" "3" "30732988" "30732989" "del" "0" "02329" "TGFBR2_000115" "g.30732988_30732989del" "" "" "" "TGFBR2(NM_001024847.2):c.1676_1677delTG (p.V559Gfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911887" "0" "30" "3" "30713246" "30713246" "subst" "0.00155312" "01804" "TGFBR2_000009" "g.30713246G>A" "" "" "" "TGFBR2(NM_001024847.2):c.646G>A (p.(Val216Ile), p.V216I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923898" "0" "30" "3" "30686250" "30686250" "subst" "0.000162756" "02329" "TGFBR2_000016" "g.30686250A>G" "" "" "" "TGFBR2(NM_001024847.2):c.181A>G (p.M61V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923899" "0" "50" "3" "30713244" "30713244" "subst" "4.87864E-5" "02325" "TGFBR2_000008" "g.30713244G>A" "" "" "" "TGFBR2(NM_003242.6):c.569G>A (p.R190H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928757" "0" "30" "3" "30686270" "30686270" "subst" "0.000130185" "02329" "TGFBR2_000026" "g.30686270C>T" "" "" "" "TGFBR2(NM_001024847.2):c.201C>T (p.N67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928758" "0" "30" "3" "30686546" "30686546" "subst" "0" "02329" "TGFBR2_000116" "g.30686546T>C" "" "" "" "TGFBR2(NM_001024847.2):c.338+139T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928759" "0" "30" "3" "30713883" "30713883" "subst" "0.000305228" "02326" "TGFBR2_000117" "g.30713883G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1283G>A (p.R428H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948107" "0" "30" "3" "30664768" "30664768" "subst" "0.00024217" "02329" "TGFBR2_000118" "g.30664768A>C" "" "" "" "TGFBR2(NM_001024847.2):c.169+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948108" "0" "30" "3" "30713619" "30713619" "subst" "0.00109025" "02329" "TGFBR2_000036" "g.30713619C>T" "" "" "" "TGFBR2(NM_001024847.2):c.1019C>T (p.(Thr340Met), p.T340M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948109" "0" "30" "3" "30713659" "30713659" "subst" "0.0001546" "02329" "TGFBR2_000065" "g.30713659C>T" "" "" "" "TGFBR2(NM_001024847.2):c.1059C>T (p.H353=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948110" "0" "30" "3" "30713794" "30713794" "subst" "0.00142709" "02327" "TGFBR2_000013" "g.30713794G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1194G>A (p.M398I, p.(Met398Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948111" "0" "30" "3" "30715614" "30715614" "subst" "0" "02329" "TGFBR2_000119" "g.30715614C>T" "" "" "" "TGFBR2(NM_001024847.2):c.1347C>T (p.Y449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948112" "0" "30" "3" "30730042" "30730042" "subst" "2.0547E-5" "02329" "TGFBR2_000120" "g.30730042C>T" "" "" "" "TGFBR2(NM_001024847.2):c.1599+39C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975739" "0" "30" "3" "30664578" "30664578" "subst" "0" "02329" "TGFBR2_000121" "g.30664578A>G" "" "" "" "TGFBR2(NM_001024847.2):c.95-113A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975740" "0" "30" "3" "30664852" "30664852" "subst" "0" "02329" "TGFBR2_000122" "g.30664852A>G" "" "" "" "TGFBR2(NM_001024847.2):c.169+87A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975741" "0" "50" "3" "30691865" "30691865" "subst" "4.07153E-5" "01804" "TGFBR2_000027" "g.30691865A>T" "" "" "" "TGFBR2(NM_001024847.2):c.442A>T (p.M148L), TGFBR2(NM_003242.5):c.367A>T (p.(Met123Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975742" "0" "50" "3" "30691893" "30691893" "subst" "4.07156E-6" "01804" "TGFBR2_000123" "g.30691893C>T" "" "" "" "TGFBR2(NM_003242.6):c.395C>T (p.(Thr132Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975743" "0" "50" "3" "30691896" "30691899" "del" "0" "02329" "TGFBR2_000124" "g.30691896_30691899del" "" "" "" "TGFBR2(NM_001024847.2):c.473_476delTCTT (p.F158Sfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975744" "0" "30" "3" "30692215" "30692215" "subst" "0" "02329" "TGFBR2_000125" "g.30692215G>A" "" "" "" "TGFBR2(NM_001024847.2):c.529+263G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975745" "0" "30" "3" "30729961" "30729961" "subst" "4.06653E-6" "02329" "TGFBR2_000071" "g.30729961T>C" "" "" "" "TGFBR2(NM_001024847.2):c.1557T>C (p.D519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993569" "0" "30" "3" "30664684" "30664684" "subst" "8.47364E-6" "01804" "TGFBR2_000087" "g.30664684T>C" "" "" "" "TGFBR2(NM_001024847.2):c.95-7T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993570" "0" "50" "3" "30713364" "30713364" "subst" "8.1477E-6" "01804" "TGFBR2_000126" "g.30713364C>T" "" "" "" "TGFBR2(NM_003242.5):c.689C>T (p.(Thr230Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993571" "0" "50" "3" "30713451" "30713451" "subst" "0" "02326" "TGFBR2_000127" "g.30713451A>C" "" "" "" "TGFBR2(NM_001024847.2):c.851A>C (p.Y284S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993572" "0" "30" "3" "30713660" "30713660" "subst" "9.76539E-5" "01804" "TGFBR2_000109" "g.30713660G>A" "" "" "" "TGFBR2(NM_003242.5):c.985G>A (p.(Ala329Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993573" "0" "50" "3" "30713790" "30713790" "subst" "0" "02327" "TGFBR2_000128" "g.30713790A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993574" "0" "30" "3" "30713834" "30713834" "subst" "0.00105255" "02326" "TGFBR2_000070" "g.30713834G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1234G>A (p.V412M, p.(Val412Met)), TGFBR2(NM_001024847.3):c.1234G>A (p.V412M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993575" "0" "30" "3" "30713834" "30713834" "subst" "0.000359008" "02329" "TGFBR2_000040" "g.30713834G>T" "" "" "" "TGFBR2(NM_001024847.2):c.1234G>T (p.V412L, p.(Val412Leu)), TGFBR2(NM_003242.6):c.1159G>T (p.V387L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993576" "0" "30" "3" "30732931" "30732931" "subst" "0" "01804" "TGFBR2_000129" "g.30732931A>T" "" "" "" "TGFBR2(NM_003242.5):c.1544A>T (p.(Glu515Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013858" "0" "50" "3" "30713433" "30713433" "subst" "0" "02329" "TGFBR2_000130" "g.30713433G>A" "" "" "" "TGFBR2(NM_001024847.2):c.833G>A (p.G278D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024760" "0" "30" "3" "30713945" "30713945" "subst" "0.000406892" "02329" "TGFBR2_000131" "g.30713945T>C" "" "" "" "TGFBR2(NM_001024847.2):c.1329+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024761" "0" "50" "3" "30715610" "30715610" "subst" "0" "02325" "TGFBR2_000132" "g.30715610G>A" "" "" "" "TGFBR2(NM_003242.6):c.1268G>A (p.R423K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033892" "0" "30" "3" "30664714" "30664714" "subst" "0.00137255" "02326" "TGFBR2_000018" "g.30664714G>A" "" "" "" "TGFBR2(NM_001024847.2):c.118G>A (p.D40N, p.(Asp40Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033893" "0" "50" "3" "30686271" "30686271" "subst" "0" "01804" "TGFBR2_000133" "g.30686271G>T" "" "" "" "TGFBR2(NM_003242.6):c.127G>T (p.(Gly43Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033894" "0" "50" "3" "30713517" "30713517" "subst" "0" "01804" "TGFBR2_000134" "g.30713517A>G" "" "" "" "TGFBR2(NM_003242.6):c.842A>G (p.(Tyr281Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033895" "0" "90" "3" "30729888" "30729888" "subst" "0" "02329" "TGFBR2_000135" "g.30729888A>G" "" "" "" "TGFBR2(NM_001024847.2):c.1484A>G (p.Y495C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033896" "0" "50" "3" "30729915" "30729915" "subst" "0" "02327" "TGFBR2_000136" "g.30729915G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045900" "0" "90" "3" "30732970" "30732970" "subst" "0" "02325" "TGFBR2_000005" "g.30732970G>A" "" "" "" "TGFBR2(NM_001024847.2):c.1658G>A (p.R553H), TGFBR2(NM_003242.6):c.1583G>A (p.R528H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TGFBR2 ## Count = 196 "{{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}}" "0000003834" "00025742" "30" "94" "1438" "94" "1438" "c.94+1438C>A" "r.(=)" "p.(=)" "" "0000003835" "00025742" "30" "94" "1595" "94" "1595" "c.94+1595A>G" "r.(=)" "p.(=)" "" "0000011817" "00025742" "30" "94" "1438" "94" "1438" "c.94+1438C>A" "r.(=)" "p.(=)" "" "0000011818" "00025742" "30" "95" "-10222" "95" "-10222" "c.95-10222G>C" "r.(=)" "p.(=)" "" "0000082950" "00025742" "90" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "" "0000149129" "00025742" "50" "94" "16245" "94" "16245" "c.94+16245G>A" "r.(=)" "p.(=)" "" "0000149130" "00025742" "50" "94" "16249" "94" "16249" "c.94+16249A>G" "r.(=)" "p.(=)" "" "0000149132" "00025742" "50" "106" "0" "106" "0" "c.106A>G" "r.(?)" "p.(Met36Val)" "" "0000149133" "00025742" "50" "160" "0" "160" "0" "c.160T>C" "r.(?)" "p.(Cys54Arg)" "" "0000149134" "00025742" "50" "505" "0" "505" "0" "c.505G>C" "r.(?)" "p.(Gly169Arg)" "" "0000149135" "00025742" "50" "538" "0" "538" "0" "c.538A>G" "r.(?)" "p.(Ile180Val)" "" "0000149136" "00025742" "50" "569" "0" "569" "0" "c.569G>A" "r.(?)" "p.(Arg190His)" "" "0000149137" "00025742" "50" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Val191Ile)" "" "0000149138" "00025742" "50" "649" "0" "649" "0" "c.649G>C" "r.(?)" "p.(Ala217Pro)" "" "0000149139" "00025742" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Ala310Thr)" "" "0000149140" "00025742" "50" "992" "0" "992" "0" "c.992G>A" "r.(?)" "p.(Gly331Asp)" "" "0000149141" "00025742" "50" "1119" "0" "1119" "0" "c.1119G>A" "r.(?)" "p.(Met373Ile)" "" "0000149142" "00025742" "50" "1463" "0" "1463" "0" "c.1463A>G" "r.(?)" "p.(Lys488Arg)" "" "0000238256" "00025742" "70" "886" "0" "886" "0" "c.886G>T" "r.(?)" "p.(Asp296Tyr)" "" "0000248253" "00025742" "10" "383" "0" "383" "0" "c.383del" "r.(?)" "p.(Lys128SerfsTer35)" "" "0000249902" "00025742" "10" "999" "0" "999" "0" "c.999A>G" "r.(?)" "p.(Leu333=)" "" "0000250088" "00025742" "10" "1266" "0" "1266" "0" "c.1266A>G" "r.(?)" "p.(Ala422=)" "" "0000251699" "00025742" "30" "383" "0" "383" "0" "c.383del" "r.(?)" "p.(Lys128SerfsTer35)" "" "0000251836" "00025742" "30" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Glu125Gly)" "" "0000252410" "00025742" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000252736" "00025742" "50" "367" "0" "367" "0" "c.367A>T" "r.(?)" "p.(Met123Leu)" "" "0000253126" "00025742" "10" "999" "0" "999" "0" "c.999A>G" "r.(?)" "p.(Leu333=)" "" "0000253582" "00025742" "10" "383" "0" "383" "0" "c.383del" "r.(?)" "p.(Lys128SerfsTer35)" "" "0000255462" "00025742" "90" "1498" "0" "1498" "0" "c.1498del" "r.(?)" "p.(Ile500PhefsTer18)" "" "0000311815" "00025742" "10" "455" "-4" "455" "-4" "c.455-4T>A" "r.spl?" "p.?" "" "0000313303" "00025742" "10" "1062" "0" "1062" "0" "c.1062C>T" "r.(?)" "p.(Leu354=)" "" "0000313304" "00025742" "30" "94" "16245" "94" "16245" "c.94+16245G>A" "r.(=)" "p.(=)" "" "0000313305" "00025742" "30" "1119" "0" "1119" "0" "c.1119G>A" "r.(?)" "p.(Met373Ile)" "" "0000313306" "00025742" "10" "1167" "0" "1167" "0" "c.1167C>T" "r.(?)" "p.(Asn389=)" "" "0000313307" "00025742" "30" "1305" "0" "1305" "0" "c.1305T>C" "r.(?)" "p.(Asn435=)" "" "0000313308" "00025742" "90" "1555" "0" "1555" "0" "c.1555G>T" "r.(?)" "p.(Glu519Ter)" "" "0000313309" "00025742" "90" "1594" "0" "1594" "0" "c.1594C>T" "r.(?)" "p.(Gln532Ter)" "" "0000313310" "00025742" "30" "1602" "0" "1602" "0" "c.1602G>A" "r.(?)" "p.(Val534=)" "" "0000313311" "00025742" "30" "123" "0" "123" "0" "c.123C>T" "r.(?)" "p.(Asn41=)" "" "0000313312" "00025742" "10" "455" "-4" "455" "-4" "c.455-4T>A" "r.spl?" "p.?" "" "0000313313" "00025742" "30" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Val191Ile)" "" "0000314511" "00025742" "30" "944" "0" "944" "0" "c.944C>T" "r.(?)" "p.(Thr315Met)" "" "0000314512" "00025742" "30" "1119" "0" "1119" "0" "c.1119G>A" "r.(?)" "p.(Met373Ile)" "" "0000314513" "00025742" "70" "94" "5" "94" "5" "c.94+5G>C" "r.spl?" "p.?" "" "0000316532" "00025742" "50" "928" "0" "928" "0" "c.928G>T" "r.(?)" "p.(Ala310Ser)" "" "0000316533" "00025742" "30" "94" "16232" "94" "16232" "c.94+16232G>A" "r.(=)" "p.(=)" "" "0000316534" "00025742" "30" "1062" "0" "1062" "0" "c.1062C>T" "r.(?)" "p.(Leu354=)" "" "0000316535" "00025742" "30" "94" "16245" "94" "16245" "c.94+16245G>A" "r.(=)" "p.(=)" "" "0000316536" "00025742" "30" "1119" "0" "1119" "0" "c.1119G>A" "r.(?)" "p.(Met373Ile)" "" "0000316537" "00025742" "30" "1125" "0" "1125" "0" "c.1125C>T" "r.(?)" "p.(Ile375=)" "" "0000316538" "00025742" "50" "1159" "0" "1159" "0" "c.1159G>T" "r.(?)" "p.(Val387Leu)" "" "0000316539" "00025742" "10" "1167" "0" "1167" "0" "c.1167C>T" "r.(?)" "p.(Asn389=)" "" "0000316541" "00025742" "50" "1193" "0" "1193" "0" "c.1193T>G" "r.(?)" "p.(Phe398Cys)" "" "0000316542" "00025742" "70" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Arg460Cys)" "" "0000316543" "00025742" "30" "1602" "0" "1602" "0" "c.1602G>A" "r.(?)" "p.(Val534=)" "" "0000316544" "00025742" "30" "126" "0" "126" "0" "c.126C>T" "r.(?)" "p.(Asn42=)" "" "0000316545" "00025742" "30" "25" "0" "25" "0" "c.25C>T" "r.(?)" "p.(Leu9=)" "" "0000316546" "00025742" "90" "383" "0" "383" "0" "c.383dup" "r.(?)" "p.(Pro129AlafsTer3)" "" "0000316547" "00025742" "10" "455" "-4" "455" "-4" "c.455-4T>A" "r.spl?" "p.?" "" "0000316548" "00025742" "50" "728" "0" "728" "0" "c.728C>G" "r.(?)" "p.(Pro243Arg)" "" "0000337670" "00025742" "10" "263" "7" "263" "7" "c.263+7A>G" "r.(=)" "p.(=)" "" "0000337671" "00025742" "10" "455" "-4" "455" "-4" "c.455-4T>A" "r.spl?" "p.?" "" "0000440127" "00025742" "50" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Trp)" "" "0000499187" "00025742" "90" "1609" "0" "1609" "0" "c.1609C>T" "r.(1609c>u)" "p.(Arg537Cys)" "" "0000499232" "00025742" "90" "1582" "0" "1582" "0" "c.1582C>T" "r.(1582c>u)" "p.(Arg528Cys)" "" "0000499233" "00025742" "90" "1598" "0" "1598" "0" "c.1598G>T" "r.(1598g>u)" "p.(Cys533Phe)" "" "0000499234" "00025742" "90" "1336" "0" "1336" "0" "c.1336G>T" "r.(1336g>a)" "p.(Asp446Tyr)" "" "0000499245" "00025742" "90" "263" "6" "263" "6" "c.263+6C>T" "r.263_264insguaa" "p.?" "" "0000499246" "00025742" "90" "1564" "0" "1564" "0" "c.1564G>A" "r.(1564g>a)" "p.(Asp522Asn)" "" "0000499247" "00025742" "90" "1336" "0" "1336" "0" "c.1336G>A" "r.(1336g>a)" "p.(Asp446Asn)" "" "0000499248" "00025742" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(1187g>a)" "p.(Cys396Tyr)" "" "0000499249" "00025742" "90" "1184" "0" "1184" "0" "c.1184T>C" "r.(1184u>c)" "p.(Leu395Pro)" "" "0000499250" "00025742" "90" "1270" "0" "1270" "0" "c.1270T>G" "r.(1270u>g)" "p.(Tyr424Asp)" "" "0000518963" "00025742" "30" "123" "0" "123" "0" "c.123C>T" "r.(?)" "p.(Asn41=)" "" "0000518964" "00025742" "10" "263" "7" "263" "7" "c.263+7A>G" "r.(=)" "p.(=)" "" "0000518965" "00025742" "10" "263" "7" "263" "7" "c.263+7A>G" "r.(=)" "p.(=)" "" "0000518966" "00025742" "10" "263" "7" "263" "7" "c.263+7A>G" "r.(=)" "p.(=)" "" "0000518969" "00025742" "50" "889" "0" "889" "0" "c.889A>G" "r.(?)" "p.(Ile297Val)" "" "0000518970" "00025742" "30" "984" "0" "984" "0" "c.984C>T" "r.(?)" "p.(His328=)" "" "0000518972" "00025742" "90" "1031" "0" "1036" "0" "c.1031_1036del" "r.(?)" "p.(Trp344_Asp346delinsTyr)" "" "0000518973" "00025742" "50" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Arg348Cys)" "" "0000518974" "00025742" "70" "1114" "0" "1114" "0" "c.1114A>G" "r.(?)" "p.(Lys372Glu)" "" "0000518975" "00025742" "30" "1127" "0" "1127" "0" "c.1127T>C" "r.(?)" "p.(Val376Ala)" "" "0000518976" "00025742" "50" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Val387Met)" "" "0000518977" "00025742" "50" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Val387Met)" "" "0000518978" "00025742" "50" "1159" "0" "1159" "0" "c.1159G>T" "r.(?)" "p.(Val387Leu)" "" "0000518979" "00025742" "10" "1266" "0" "1266" "0" "c.1266A>G" "r.(?)" "p.(Ala422=)" "" "0000518980" "00025742" "90" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Arg460Cys)" "" "0000518981" "00025742" "30" "1482" "0" "1482" "0" "c.1482T>C" "r.(?)" "p.(Asp494=)" "" "0000518982" "00025742" "70" "1490" "0" "1490" "0" "c.1490G>A" "r.(?)" "p.(Arg497Gln)" "" "0000518983" "00025742" "30" "1525" "-7" "1525" "-7" "c.1525-7G>A" "r.(=)" "p.(=)" "" "0000518984" "00025742" "50" "1538" "0" "1538" "0" "c.1538T>C" "r.(?)" "p.(Val513Ala)" "" "0000518985" "00025742" "90" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Glu519Lys)" "" "0000518986" "00025742" "50" "1595" "0" "1595" "0" "c.1595A>C" "r.(?)" "p.(Gln532Pro)" "" "0000518987" "00025742" "50" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Cys533Tyr)" "" "0000518988" "00025742" "30" "1657" "0" "1657" "0" "c.1657T>A" "r.(?)" "p.(Ser553Thr)" "" "0000518989" "00025742" "30" "1659" "0" "1659" "0" "c.1659G>A" "r.(?)" "p.(Ser553=)" "" "0000608479" "00025742" "30" "550" "0" "550" "0" "c.550A>G" "r.(?)" "p.(Ile184Val)" "" "0000608480" "00025742" "30" "892" "0" "892" "0" "c.892A>G" "r.(?)" "p.(Asn298Asp)" "" "0000608481" "00025742" "30" "1119" "0" "1119" "0" "c.1119G>A" "r.(?)" "p.(Met373Ile)" "" "0000608482" "00025742" "70" "1130" "0" "1130" "0" "c.1130A>T" "r.(?)" "p.(His377Leu)" "" "0000608483" "00025742" "50" "1199" "0" "1199" "0" "c.1199T>A" "r.(?)" "p.(Leu400His)" "" "0000621239" "00025742" "70" "1145" "0" "1145" "0" "c.1145G>A" "r.(?)" "p.(Ser382Asn)" "" "0000621240" "00025742" "30" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Val387Met)" "" "0000651173" "00025742" "90" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495*)" "" "0000651174" "00025742" "30" "3537" "0" "3537" "0" "c.*1833A>C" "r.(=)" "p.(=)" "" "0000654871" "00025742" "30" "94" "16215" "94" "16215" "c.94+16215T>C" "r.(=)" "p.(=)" "" "0000654872" "00025742" "50" "1066" "0" "1066" "0" "c.1066C>T" "r.(?)" "p.(Arg356Trp)" "" "0000667895" "00025742" "70" "1378" "0" "1378" "0" "c.1378C>A" "r.(?)" "p.(Arg460Ser)" "" "0000667896" "00025742" "70" "1379" "0" "1379" "0" "c.1379G>C" "r.(?)" "p.(Arg460Pro)" "" "0000669761" "00025742" "30" "3537" "0" "3537" "0" "c.*1833A>C" "r.(=)" "p.(=)" "" "0000673982" "00025742" "70" "94" "16220" "94" "16220" "c.94+16220A>G" "r.(?)" "p.?" "" "0000689020" "00025742" "30" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Asn146=)" "" "0000689021" "00025742" "50" "469" "0" "469" "0" "c.469A>T" "r.(?)" "p.(Asn157Tyr)" "" "0000708487" "00025742" "70" "1102" "0" "1102" "0" "c.1102T>C" "r.(?)" "p.(Cys368Arg)" "" "0000719334" "00025742" "50" "94" "16273" "94" "16273" "c.94+16273G>A" "r.(=)" "p.(=)" "" "0000719335" "00025742" "30" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Val387Met)" "" "0000719336" "00025742" "30" "1159" "0" "1159" "0" "c.1159G>T" "r.(?)" "p.(Val387Leu)" "" "0000719337" "00025742" "30" "1396" "130" "1396" "130" "c.1396+130C>A" "r.(=)" "p.(=)" "" "0000719338" "00025742" "30" "1525" "-8" "1525" "-8" "c.1525-8C>T" "r.(=)" "p.(=)" "" "0000719339" "00025742" "30" "1525" "-7" "1525" "-7" "c.1525-7G>A" "r.(=)" "p.(=)" "" "0000719340" "00025742" "90" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "" "0000719341" "00025742" "90" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "" "0000801148" "00025742" "50" "148" "0" "148" "0" "c.148C>G" "r.(?)" "p.(Leu50Val)" "" "0000801149" "00025742" "30" "263" "17" "263" "17" "c.263+17A>C" "r.(=)" "p.(=)" "" "0000801150" "00025742" "30" "944" "0" "944" "0" "c.944C>T" "r.(?)" "p.(Thr315Met)" "" "0000801151" "00025742" "70" "1114" "0" "1114" "0" "c.1114A>G" "r.(?)" "p.(Lys372Glu)" "" "0000801152" "00025742" "30" "1397" "-9" "1397" "-9" "c.1397-9T>C" "r.(=)" "p.(=)" "" "0000831724" "00025742" "70" "1490" "0" "1490" "0" "c.1490G>A" "r.(?)" "p.(Arg497Gln)" "" "0000831725" "00025742" "70" "1555" "0" "1555" "0" "c.1555G>T" "r.(?)" "p.(Glu519*)" "" "0000831726" "00025742" "70" "1594" "0" "1594" "0" "c.1594C>T" "r.(?)" "p.(Gln532*)" "" "0000831809" "00025742" "50" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Arg348Cys)" "" "0000850222" "00025742" "30" "94" "3823" "94" "3823" "c.94+3823G>C" "r.(=)" "p.(=)" "" "0000850223" "00025742" "10" "94" "7156" "94" "7157" "c.94+7156_94+7157dup" "r.(=)" "p.(=)" "" "0000850224" "00025742" "30" "455" "-10055" "455" "-10055" "c.455-10055C>T" "r.(=)" "p.(=)" "" "0000850225" "00025742" "30" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Val191Ile)" "" "0000850226" "00025742" "50" "1199" "0" "1199" "0" "c.1199T>A" "r.(?)" "p.(Leu400His)" "" "0000850227" "00025742" "30" "1396" "5391" "1396" "5391" "c.1396+5391A>G" "r.(=)" "p.(=)" "" "0000850228" "00025742" "30" "1396" "6746" "1396" "6746" "c.1396+6746C>T" "r.(=)" "p.(=)" "" "0000858946" "00025742" "30" "94" "16245" "94" "16245" "c.94+16245G>A" "r.(=)" "p.(=)" "" "0000858947" "00025742" "50" "94" "16273" "94" "16273" "c.94+16273G>A" "r.(=)" "p.(=)" "" "0000858948" "00025742" "90" "95" "-2" "95" "-2" "c.95-2A>G" "r.spl?" "p.?" "" "0000858949" "00025742" "30" "1524" "10" "1524" "10" "c.1524+10G>C" "r.(=)" "p.(=)" "" "0000858950" "00025742" "30" "1524" "62" "1524" "62" "c.1524+62A>G" "r.(=)" "p.(=)" "" "0000880016" "00025742" "70" "1256" "0" "1256" "0" "c.1256T>A" "r.(?)" "p.(Val419Glu)" "" "0000880017" "00025742" "70" "1256" "0" "1256" "0" "c.1256T>A" "r.(?)" "p.(Val419Glu)" "" "0000880018" "00025742" "70" "1370" "0" "1370" "0" "c.1370T>A" "r.(?)" "p.(Met457Lys)" "" "0000880019" "00025742" "90" "1277" "0" "1277" "0" "c.1277C>A" "r.(?)" "p.(Ala426Asp)" "" "0000880020" "00025742" "50" "1301" "0" "1301" "0" "c.1301T>C" "r.(?)" "p.(Met434Thr)" "" "0000880021" "00025742" "90" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "" "0000880022" "00025742" "90" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "" "0000880023" "00025742" "90" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "" "0000880024" "00025742" "90" "985" "0" "985" "0" "c.985G>A" "r.(?)" "p.(Ala329Thr)" "" "0000880025" "00025742" "90" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "" "0000880026" "00025742" "50" "1190" "0" "1190" "0" "c.1190A>G" "r.(?)" "p.(Asp397Gly)" "" "0000880027" "00025742" "90" "1336" "0" "1336" "0" "c.1336G>A" "r.(?)" "p.(Asp446Asn)" "" "0000880028" "00025742" "70" "1483" "0" "1483" "0" "c.1483C>G" "r.(?)" "p.(Arg495Gly)" "" "0000880029" "00025742" "90" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "" "0000881174" "00025742" "90" "1582" "0" "1582" "0" "c.1582C>T" "r.(?)" "p.(Arg528Cys)" "" "0000885709" "00025742" "90" "1601" "0" "1602" "0" "c.1601_1602del" "r.(?)" "p.(Val534Glyfs*6)" "" "0000911887" "00025742" "30" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Val191Ile)" "" "0000923898" "00025742" "30" "106" "0" "106" "0" "c.106A>G" "r.(?)" "p.(Met36Val)" "" "0000923899" "00025742" "50" "569" "0" "569" "0" "c.569G>A" "r.(?)" "p.(Arg190His)" "" "0000928757" "00025742" "30" "126" "0" "126" "0" "c.126C>T" "r.(?)" "p.(Asn42=)" "" "0000928758" "00025742" "30" "263" "139" "263" "139" "c.263+139T>C" "r.(=)" "p.(=)" "" "0000928759" "00025742" "30" "1208" "0" "1208" "0" "c.1208G>A" "r.(?)" "p.(Arg403His)" "" "0000948107" "00025742" "30" "94" "16299" "94" "16299" "c.94+16299A>C" "r.(=)" "p.(=)" "" "0000948108" "00025742" "30" "944" "0" "944" "0" "c.944C>T" "r.(?)" "p.(Thr315Met)" "" "0000948109" "00025742" "30" "984" "0" "984" "0" "c.984C>T" "r.(?)" "p.(His328=)" "" "0000948110" "00025742" "30" "1119" "0" "1119" "0" "c.1119G>A" "r.(?)" "p.(Met373Ile)" "" "0000948111" "00025742" "30" "1272" "0" "1272" "0" "c.1272C>T" "r.(?)" "p.(=)" "" "0000948112" "00025742" "30" "1524" "39" "1524" "39" "c.1524+39C>T" "r.(=)" "p.(=)" "" "0000975739" "00025742" "30" "94" "16109" "94" "16109" "c.94+16109A>G" "r.(=)" "p.(=)" "" "0000975740" "00025742" "30" "94" "16383" "94" "16383" "c.94+16383A>G" "r.(=)" "p.(=)" "" "0000975741" "00025742" "50" "367" "0" "367" "0" "c.367A>T" "r.(?)" "p.(Met123Leu)" "" "0000975742" "00025742" "50" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Thr132Ile)" "" "0000975743" "00025742" "50" "398" "0" "401" "0" "c.398_401del" "r.(?)" "p.(Phe133Serfs*29)" "" "0000975744" "00025742" "30" "454" "263" "454" "263" "c.454+263G>A" "r.(=)" "p.(=)" "" "0000975745" "00025742" "30" "1482" "0" "1482" "0" "c.1482T>C" "r.(?)" "p.(Asp494=)" "" "0000993569" "00025742" "30" "94" "16215" "94" "16215" "c.94+16215T>C" "r.(=)" "p.(=)" "" "0000993570" "00025742" "50" "689" "0" "689" "0" "c.689C>T" "r.(?)" "p.(Thr230Met)" "" "0000993571" "00025742" "50" "776" "0" "776" "0" "c.776A>C" "r.(?)" "p.(Tyr259Ser)" "" "0000993572" "00025742" "30" "985" "0" "985" "0" "c.985G>A" "r.(?)" "p.(Ala329Thr)" "" "0000993573" "00025742" "50" "1115" "0" "1115" "0" "c.1115A>G" "r.(?)" "p.(Lys372Arg)" "" "0000993574" "00025742" "30" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Val387Met)" "" "0000993575" "00025742" "30" "1159" "0" "1159" "0" "c.1159G>T" "r.(?)" "p.(Val387Leu)" "" "0000993576" "00025742" "30" "1544" "0" "1544" "0" "c.1544A>T" "r.(?)" "p.(Glu515Val)" "" "0001013858" "00025742" "50" "758" "0" "758" "0" "c.758G>A" "r.(?)" "p.(Gly253Asp)" "" "0001024760" "00025742" "30" "1254" "16" "1254" "16" "c.1254+16T>C" "r.(=)" "p.(=)" "" "0001024761" "00025742" "50" "1268" "0" "1268" "0" "c.1268G>A" "r.(?)" "p.(Arg423Lys)" "" "0001033892" "00025742" "30" "94" "16245" "94" "16245" "c.94+16245G>A" "r.(=)" "p.(=)" "" "0001033893" "00025742" "50" "127" "0" "127" "0" "c.127G>T" "r.(?)" "p.(Gly43Cys)" "" "0001033894" "00025742" "50" "842" "0" "842" "0" "c.842A>G" "r.(?)" "p.(Tyr281Cys)" "" "0001033895" "00025742" "90" "1409" "0" "1409" "0" "c.1409A>G" "r.(?)" "p.(Tyr470Cys)" "" "0001033896" "00025742" "50" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479Gln)" "" "0001045900" "00025742" "90" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 56 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003834" "0000000209" "0000003835" "0000000210" "0000011817" "0000000210" "0000011818" "0000053018" "0000082950" "0000091000" "0000149129" "0000091001" "0000149130" "0000091003" "0000149132" "0000091004" "0000149133" "0000091005" "0000149134" "0000091006" "0000149135" "0000091007" "0000149136" "0000091008" "0000149137" "0000091009" "0000149138" "0000091010" "0000149139" "0000091011" "0000149140" "0000091012" "0000149141" "0000091013" "0000149142" "0000145750" "0000238256" "0000209887" "0000440127" "0000246462" "0000499187" "0000246463" "0000499232" "0000246508" "0000499233" "0000246509" "0000499234" "0000246520" "0000499245" "0000246521" "0000499246" "0000246522" "0000499247" "0000246523" "0000499248" "0000246524" "0000499249" "0000246525" "0000499250" "0000294484" "0000651173" "0000294485" "0000651174" "0000304452" "0000667895" "0000304453" "0000667896" "0000306073" "0000669761" "0000307356" "0000673982" "0000325478" "0000708487" "0000399363" "0000831724" "0000399364" "0000831725" "0000399365" "0000831726" "0000399448" "0000831809" "0000419844" "0000880016" "0000419845" "0000880017" "0000419846" "0000880018" "0000419847" "0000880019" "0000419848" "0000880020" "0000419849" "0000880021" "0000419850" "0000880022" "0000419851" "0000880023" "0000419852" "0000880024" "0000419853" "0000880025" "0000419854" "0000880026" "0000419855" "0000880027" "0000419856" "0000880028" "0000419857" "0000880029" "0000420815" "0000881174"