### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMAD3) # 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}}" "SMAD3" "SMAD family member 3" "15" "q21-q22" "unknown" "NG_011990.1" "UD_132119051008" "" "https://www.LOVD.nl/SMAD3" "Globin Gene Server databases \r\nHbVar " "1" "6769" "4088" "603109" "1" "1" "1" "1" "This gene is part of the Globin Gene Server databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SMAD3_codingDNA.html" "1" "" "This gene is part of the Globin Gene Server databases." "-1" "" "-1" "00001" "2009-02-18 00:00:00" "00006" "2022-01-01 13:00:10" "00000" "2025-02-24 15:42:03" ## 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}}" "00019406" "SMAD3" "transcript variant 1" "001" "NM_005902.3" "" "NP_005893.1" "" "" "" "-298" "5937" "1278" "67358195" "67487533" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "00884" "LDS" "Loeys-Dietz syndrome (LDS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01635" "AGOTC" "agnathia-otocephaly complex" "AD;AR" "202650" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "03437" "LDS3" "Loeys-Dietz syndrome, type 3 (LDS-3)" "AD" "613795" "" "hypertelorism (HP:0000316); bifid uvula (HP:0000193)/cleft palate (HP:0000175); exotropia (HP:0000577); craniosynostosis (HP:0001363); cervical spine instability (HP:0010646); retrognathia (HP:0000278); scoliosis (HP:0002650); club foot (HP:0001762); osteoarthritis (HP:0002758); dural ectasia (HP:0100775); pneumothorax (HP:0002107); hernia (HP:0100790); dissection at young age; arterial tortuosity (HP:0005116)" "" "00006" "2014-09-25 23:29:40" "00006" "2022-01-03 17:50:12" "04193" "TAAD" "aneurysms, aortic, thoracic, dissections (TAAD)" "" "" "" "" "" "00006" "2015-02-14 21:35:57" "00006" "2016-03-20 12:15:43" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SMAD3" "00884" "SMAD3" "03437" ## Individuals ## Do not remove or alter this header ## ## Count = 59 "{{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}}" "00090773" "" "" "" "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" "" "" "" "00090774" "" "" "" "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" "" "" "" "00090775" "" "" "" "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" "" "" "" "00090776" "" "" "" "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" "" "" "" "00090777" "" "" "" "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" "" "" "" "00090778" "" "" "" "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" "" "" "" "00104011" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-511A" "00181141" "" "" "" "1" "" "02575" "Family 7, II.1" "" "M" "?" "" "" "0" "" "" "" "" "00235311" "" "" "" "1" "" "02284" "{PMID:Laterza 2019:31326520}" "" "M" "no" "Italy" "" "0" "" "" "" "" "00239001" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00245414" "" "" "" "2" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "patient has an affected cousin carrying the same variant" "F" "no" "Italy" "31y" "0" "" "" "" "F20, I" "00245415" "" "" "" "4" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "patient has an affected mother, maternal uncle, and grandfather carrying variant" "M" "no" "Italy" "13y" "0" "" "" "" "F21, I" "00245416" "" "" "" "1" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "F" "no" "Italy" "41y" "0" "" "" "" "F22, I" "00245417" "" "" "" "2" "" "02284" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "patient has an affected father carrying the same variant" "M" "no" "Italy" "23y" "0" "" "" "" "F23, I" "00267098" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00267099" "" "" "" "1" "" "03464" "{PMID:Sebastiani 2008:17918249}" "associated analtysis fetal hemoglobin (HbF) level" "" "" "" "" "0" "" "" "" "" "00291281" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291282" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291283" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291284" "" "" "" "55" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291285" "" "" "" "84" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296491" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00304476" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304477" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00397689" "" "" "" "1" "" "01903" "" "" "" "" "" "" "" "" "" "" "" "00398041" "" "" "" "1" "" "01903" "{PMID:Overwater 2018:29907982}" "possibly identical to CliinVar:VCV000584063.3" "M" "?" "" "" "0" "" "" "" "EO2018-Pat63" "00398057" "" "" "" "1" "" "01903" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00398062" "" "" "" "1" "" "00006" "{PMID:Hilhorst-Hofstee 2013:22803640}" "3-generation family, 4 affected (F, 3M), 4 deletion carriers (2F, 2M)" "F;M" "" "Netherlands" "" "0" "" "" "" "family" "00398104" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat42" "00398105" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat43" "00398106" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat44" "00398107" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat45" "00398108" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat46" "00398109" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat47" "00398110" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat48" "00398192" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat137" "00398193" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat138" "00398194" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat139" "00398310" "" "" "" "5" "" "00006" "{PMID:Ye 2013:23585475}" "3-generation family, 5 affected (3F, 2M)" "F;M" "" "China" "" "0" "" "" "" "family" "00398312" "" "" "" "1" "" "00006" "{PMID:Regalado 2011:21778426}" "4-generation family, 11 affected (6F, 5M)" "F;M" "" "United States" "" "0" "" "" "" "FamTAA549" "00398313" "" "" "" "8" "" "00006" "{PMID:Regalado 2011:21778426}" "3-generation family, 8 affected (3F, 5M)" "F;M" "" "United States" "" "0" "" "" "" "FamTAA071" "00398314" "" "" "" "6" "" "00006" "{PMID:Regalado 2011:21778426}" "4-generation family, 6 affected (2F, 6M)" "F;M" "" "United States" "" "0" "" "" "" "FamTAA072" "00398315" "" "" "" "3" "" "00006" "{PMID:Regalado 2011:21778426}" "2-generation family, 3 affected (F, 2M)" "F;M" "" "United States" "" "0" "" "" "" "FamTAA365" "00398316" "" "" "" "3" "" "00006" "{PMID:Regalado 2011:21778426}" "2-generation family, 3 affected (F, 2M)" "F;M" "" "United States" "" "0" "" "" "" "FamTAA115" "00398332" "" "" "" "2" "" "00006" "{PMID:Schubert 2016:26854089}" "3-generation family, affected father/son" "M" "" "United States" "" "0" "" "" "" "Fam2PatIII4" "00398335" "" "" "" "1" "" "00006" "{PMID:Aubert 2014:24804794}" "" "" "" "France" "" "0" "" "" "" "BIC5301" "00398336" "" "" "" "1" "" "00006" "{PMID:Aubert 2014:24804794}" "" "" "" "France" "" "0" "" "" "" "BIC9521" "00398337" "" "" "" "1" "" "00006" "{PMID:Aubert 2014:24804794}" "" "" "" "France" "" "0" "" "" "" "BIC4191" "00398338" "" "" "" "1" "" "00006" "{PMID:Aubert 2014:24804794}" "" "" "" "France" "" "0" "" "" "" "BIC886" "00398339" "" "" "" "1" "" "00006" "{PMID:Aubert 2014:24804794}" "" "" "" "France" "" "0" "" "" "" "BIC792" "00398340" "" "" "" "1" "" "00006" "{PMID:Aubert 2014:24804794}" "" "" "" "France" "" "0" "" "" "" "BIC873" "00398341" "" "" "" "1" "" "00006" "{PMID:Aubert 2014:24804794}" "" "" "" "France" "" "0" "" "" "" "BIC029" "00398342" "" "" "" "1" "" "00006" "{PMID:Aubert 2014:24804794}" "" "" "" "France" "" "0" "" "" "" "BIC915" "00398343" "" "" "" "1" "" "00006" "{PMID:Van de Laar 2012:22167769}" "2-generation family, 1 affected" "M" "" "" "" "0" "" "" "" "Fam8PatII1" "00418563" "" "" "" "3" "" "00006" "{PMID:Almpani 2022:34916229}" "family, proband" "" "" "United States" "" "0" "" "" "" "FamPatXXVIA" "00418564" "" "" "00418563" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "mother" "" "" "United States" "" "0" "" "" "" "FamPatXXVIB" "00418565" "" "" "00418563" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "sibling" "" "" "United States" "" "0" "" "" "" "FamPatXXVIC" "00460896" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00461058" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 59 "{{individualid}}" "{{diseaseid}}" "00090773" "00091" "00090774" "00091" "00090775" "00091" "00090776" "00091" "00090777" "00091" "00090778" "00091" "00104011" "03381" "00181141" "01635" "00235311" "03437" "00239001" "00198" "00245414" "03437" "00245415" "03437" "00245416" "03437" "00245417" "03437" "00267098" "00198" "00267099" "00198" "00291281" "00198" "00291282" "00198" "00291283" "00198" "00291284" "00198" "00291285" "00198" "00296491" "03437" "00304476" "00198" "00304477" "00198" "00397689" "04193" "00398041" "04193" "00398057" "04193" "00398062" "04193" "00398104" "00198" "00398105" "00198" "00398106" "00198" "00398107" "00198" "00398108" "00198" "00398109" "00198" "00398110" "00198" "00398192" "00198" "00398193" "00198" "00398194" "00198" "00398310" "00884" "00398312" "00884" "00398313" "00884" "00398314" "00884" "00398315" "00884" "00398316" "00884" "00398332" "00884" "00398335" "04193" "00398336" "04193" "00398337" "04193" "00398338" "04193" "00398339" "04193" "00398340" "04193" "00398341" "04193" "00398342" "04193" "00398343" "00198" "00418563" "00884" "00418564" "00884" "00418565" "00884" "00460896" "00198" "00461058" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00091, 00198, 00884, 01635, 03381, 03437, 04193 ## Count = 38 "{{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}}" "0000081945" "03381" "00104011" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143361" "01635" "00181141" "02575" "Isolated (sporadic)" "" "Mandibular aplasia (HP:0009939), Microglossia (HP:0000171), Cleft palate (HP:0000175), Laryngeal hypoplasia (HP:0008749), Synotia (HP:0100663)" "" "" "" "" "" "" "" "" "" "" "" "" "Agnathia-Otocephaly complex" "" "0000179286" "00198" "00239001" "01807" "Unknown" "" "HP:0004933 (Ascending aortic dissection)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185358" "03437" "00245414" "02284" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185359" "03437" "00245415" "02284" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185360" "03437" "00245416" "02284" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185361" "03437" "00245417" "02284" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000290816" "04193" "00397689" "01903" "Familial, autosomal dominant" "" "" "" "" "osteochondritis dissecans" "" "" "" "" "" "" "" "" "LDS3" "" "" "0000291172" "04193" "00398062" "00006" "Familial, autosomal dominant" "" "see paper; ..., mental retardation, behavioral problems, aneurysms-osteoarthritis syndrome, aortic aneurysms and dissection" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000291214" "00198" "00398104" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291215" "00198" "00398105" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291216" "00198" "00398106" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291217" "00198" "00398107" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291218" "00198" "00398108" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291219" "00198" "00398109" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291220" "00198" "00398110" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291302" "00198" "00398192" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291303" "00198" "00398193" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291304" "00198" "00398194" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291434" "00884" "00398310" "00006" "Familial, autosomal dominant" "" "see paper; ..., aortic aneurysm" "" "" "" "" "" "" "" "" "" "" "" "LDS3" "aortic aneurysm" "" "0000291436" "00884" "00398312" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "LDS3" "" "" "0000291437" "00884" "00398313" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "LDS3" "" "" "0000291438" "00884" "00398314" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "LDS3" "" "" "0000291439" "00884" "00398315" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "LDS3" "" "" "0000291440" "00884" "00398316" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "LDS3" "" "" "0000291455" "00884" "00398332" "00006" "Unknown" "10y" "see paper; ..., mild TAA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000291458" "04193" "00398335" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic aneurysms and dissections" "" "0000291459" "04193" "00398336" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic aneurysms and dissections" "" "0000291460" "04193" "00398337" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic aneurysms and dissections" "" "0000291461" "04193" "00398338" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic aneurysms and dissections" "" "0000291462" "04193" "00398339" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic aneurysms and dissections" "" "0000291463" "04193" "00398340" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic aneurysms and dissections" "" "0000291464" "04193" "00398341" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic aneurysms and dissections" "" "0000291465" "04193" "00398342" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic aneurysms and dissections" "" "0000291466" "00198" "00398343" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "aneurysms–osteoarthritis syndrome" "" "0000309900" "00884" "00418563" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS3" "Loeys-Dietz syndrome" "" "0000309901" "00884" "00418564" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS3" "Loeys-Dietz syndrome" "" "0000309902" "00884" "00418565" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "" "" "" "LDS3" "Loeys-Dietz syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 59 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000090918" "00090773" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090919" "00090774" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090920" "00090775" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090921" "00090776" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090922" "00090777" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090923" "00090778" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000104482" "00104011" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000182098" "00181141" "1" "02575" "02575" "2018-10-01 15:02:04" "" "" "SEQ-NG" "DNA" "" "" "0000236416" "00235311" "1" "02284" "02284" "2019-05-20 11:27:54" "" "" "SEQ" "DNA" "" "" "0000240106" "00239001" "1" "01807" "01807" "2019-05-30 15:47:08" "" "" "SEQ" "DNA" "" "" "0000246526" "00245414" "1" "02284" "02284" "2019-07-03 15:06:24" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000246527" "00245415" "1" "02284" "02284" "2019-07-03 15:28:06" "02284" "2019-07-03 15:35:29" "PCR;RT-PCR;SEQ" "DNA;RNA" "Blood" "" "0000246528" "00245416" "1" "02284" "02284" "2019-07-03 15:38:28" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000246529" "00245417" "1" "02284" "02284" "2019-07-03 15:46:43" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000268227" "00267098" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" "0000268228" "00267099" "1" "03464" "00006" "2019-11-01 13:08:02" "" "" "?" "DNA" "" "" "0000292449" "00291281" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292450" "00291282" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292451" "00291283" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292452" "00291284" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292453" "00291285" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297601" "00296491" "1" "01741" "01741" "2020-04-07 09:02:12" "" "" "SEQ-NG" "DNA" "" "" "0000305605" "00304476" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305606" "00304477" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000398930" "00397689" "1" "01903" "01903" "2021-12-28 16:05:51" "" "" "SEQ" "DNA" "" "" "0000399285" "00398041" "1" "01903" "01903" "2021-12-30 18:30:13" "" "" "MLPA" "DNA" "" "" "0000399300" "00398057" "1" "01903" "01903" "2021-12-30 19:04:36" "" "" "arrayCNV" "DNA" "" "" "0000399305" "00398062" "1" "00006" "00006" "2021-12-31 10:36:04" "" "" "arraySNP" "DNA" "" "" "0000399347" "00398104" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399348" "00398105" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399349" "00398106" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399350" "00398107" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399351" "00398108" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399352" "00398109" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399353" "00398110" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399435" "00398192" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399436" "00398193" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399437" "00398194" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399555" "00398310" "1" "00006" "00006" "2022-01-03 21:14:02" "" "" "SEQ" "DNA" "" "" "0000399557" "00398312" "1" "00006" "00006" "2022-01-03 21:54:34" "" "" "SEQ" "DNA" "" "" "0000399558" "00398313" "1" "00006" "00006" "2022-01-03 22:17:18" "" "" "SEQ" "DNA" "" "" "0000399559" "00398314" "1" "00006" "00006" "2022-01-03 22:22:25" "" "" "SEQ" "DNA" "" "" "0000399560" "00398315" "1" "00006" "00006" "2022-01-03 22:46:12" "" "" "SEQ" "DNA" "" "" "0000399561" "00398316" "1" "00006" "00006" "2022-01-03 22:49:00" "" "" "SEQ" "DNA" "" "" "0000399578" "00398332" "1" "00006" "00006" "2022-01-04 15:22:16" "" "" "SEQ" "DNA" "" "WES" "0000399581" "00398335" "1" "00006" "00006" "2022-01-04 16:04:34" "" "" "SEQ" "DNA" "" "" "0000399582" "00398336" "1" "00006" "00006" "2022-01-04 16:04:34" "" "" "SEQ" "DNA" "" "" "0000399583" "00398337" "1" "00006" "00006" "2022-01-04 16:04:34" "" "" "SEQ" "DNA" "" "" "0000399584" "00398338" "1" "00006" "00006" "2022-01-04 16:04:34" "" "" "SEQ" "DNA" "" "" "0000399585" "00398339" "1" "00006" "00006" "2022-01-04 16:04:34" "" "" "SEQ" "DNA" "" "" "0000399586" "00398340" "1" "00006" "00006" "2022-01-04 16:04:34" "" "" "SEQ" "DNA" "" "" "0000399587" "00398341" "1" "00006" "00006" "2022-01-04 16:04:34" "" "" "SEQ" "DNA" "" "" "0000399588" "00398342" "1" "00006" "00006" "2022-01-04 16:04:34" "" "" "SEQ" "DNA" "" "" "0000399589" "00398343" "1" "00006" "00006" "2022-01-04 16:28:32" "" "" "SEQ" "DNA" "" "" "0000419858" "00418563" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419859" "00418564" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419860" "00418565" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000462528" "00460896" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" "0000462690" "00461058" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 69 "{{screeningid}}" "{{geneid}}" "0000090918" "SMAD3" "0000090919" "SMAD3" "0000090920" "SMAD3" "0000090921" "SMAD3" "0000090922" "SMAD3" "0000090923" "SMAD3" "0000182098" "SMAD3" "0000236416" "S100A1" "0000236416" "SMAD2" "0000236416" "SMAD3" "0000236416" "TGFB2" "0000236416" "TGFB3" "0000236416" "TGFBR1" "0000236416" "TGFBR2" "0000246526" "SMAD3" "0000246526" "TGFB2" "0000246526" "TGFB3" "0000246526" "TGFBR1" "0000246526" "TGFBR2" "0000246527" "SMAD3" "0000246527" "TGFB2" "0000246527" "TGFB3" "0000246527" "TGFBR1" "0000246527" "TGFBR2" "0000246528" "SMAD3" "0000246528" "TGFB2" "0000246528" "TGFB3" "0000246528" "TGFBR1" "0000246528" "TGFBR2" "0000246529" "SMAD3" "0000246529" "TGFB2" "0000246529" "TGFB3" "0000246529" "TGFBR1" "0000246529" "TGFBR2" "0000268227" "SMAD3" "0000268228" "SMAD3" "0000297601" "SMAD3" "0000399285" "SMAD3" "0000399305" "SMAD3" "0000399347" "SMAD3" "0000399348" "SMAD3" "0000399349" "SMAD3" "0000399350" "SMAD3" "0000399351" "SMAD3" "0000399352" "SMAD3" "0000399353" "SMAD3" "0000399435" "SMAD3" "0000399436" "SMAD3" "0000399437" "SMAD3" "0000399555" "SMAD3" "0000399557" "SMAD3" "0000399558" "SMAD3" "0000399559" "SMAD3" "0000399560" "SMAD3" "0000399561" "SMAD3" "0000399581" "SMAD3" "0000399582" "SMAD3" "0000399583" "SMAD3" "0000399584" "SMAD3" "0000399585" "SMAD3" "0000399586" "SMAD3" "0000399587" "SMAD3" "0000399588" "SMAD3" "0000399589" "SMAD3" "0000419858" "SMAD3" "0000419859" "SMAD3" "0000419860" "SMAD3" "0000462528" "SMAD3" "0000462690" "SMAD3" ## 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 = 251 "{{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}}" "0000149047" "1" "50" "15" "67358499" "67358499" "subst" "4.58043E-6" "01816" "SMAD3_000006" "g.67358499T>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.67066161T>A" "" "VUS" "" "0000149048" "1" "70" "15" "67457342" "67457342" "subst" "0.000223363" "01816" "SMAD3_000003" "g.67457342A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.67165004A>G" "" "likely pathogenic" "" "0000149049" "1" "50" "15" "67457367" "67457367" "subst" "2.03057E-5" "01816" "SMAD3_000004" "g.67457367A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.67165029A>G" "" "VUS" "" "0000149050" "1" "50" "15" "67457417" "67457417" "subst" "8.12381E-6" "01816" "SMAD3_000005" "g.67457417G>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.67165079G>C" "" "VUS" "" "0000149051" "1" "50" "15" "67462920" "67462920" "subst" "0.000243692" "01816" "SMAD3_000073" "g.67462920G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.67170582G>A" "" "VUS" "" "0000149052" "1" "50" "15" "67462927" "67462927" "subst" "0" "01816" "SMAD3_000074" "g.67462927G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.67170589G>A" "" "VUS" "" "0000169338" "0" "70" "15" "67358593" "67358593" "subst" "0" "00587" "SMAD3_000007" "g.67358593C>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_005902.3(SMAD3):c.101C>T p.(Ala34Val)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.67066255C>T" "" "likely pathogenic" "" "0000247892" "0" "10" "15" "67457335" "67457335" "subst" "0.867099" "02325" "SMAD3_000012" "g.67457335A>G" "" "" "" "SMAD3(NM_005902.3):c.309A>G (p.L103=), SMAD3(NM_005902.4):c.309A>G (p.L103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67164997A>G" "" "benign" "" "0000249870" "0" "10" "15" "67457335" "67457335" "subst" "0.867099" "02329" "SMAD3_000012" "g.67457335A>G" "" "" "" "SMAD3(NM_005902.3):c.309A>G (p.L103=), SMAD3(NM_005902.4):c.309A>G (p.L103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67164997A>G" "" "benign" "" "0000250005" "0" "10" "15" "67457698" "67457698" "subst" "0.0397878" "02329" "SMAD3_000021" "g.67457698A>G" "" "" "" "SMAD3(NM_001145102.1):c.193A>G (p.(Ile65Val)), SMAD3(NM_005902.3):c.508A>G (p.I170V), SMAD3(NM_005902.4):c.508A>G (p.I170V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67165360A>G" "" "benign" "" "0000250501" "0" "70" "15" "67477086" "67477086" "subst" "0" "02329" "SMAD3_000033" "g.67477086A>G" "" "" "" "SMAD3(NM_005902.4):c.893A>G (p.Y298C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67184748A>G" "" "likely pathogenic" "" "0000250715" "0" "10" "15" "67479870" "67479870" "subst" "0.00325343" "02326" "SMAD3_000039" "g.67479870A>C" "" "" "" "SMAD3(NM_005902.3):c.1154+23A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67187532A>C" "" "benign" "" "0000250865" "0" "10" "15" "67457698" "67457698" "subst" "0.0397878" "02326" "SMAD3_000021" "g.67457698A>G" "" "" "" "SMAD3(NM_001145102.1):c.193A>G (p.(Ile65Val)), SMAD3(NM_005902.3):c.508A>G (p.I170V), SMAD3(NM_005902.4):c.508A>G (p.I170V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67165360A>G" "" "benign" "" "0000253067" "0" "10" "15" "67479870" "67479870" "subst" "0.00325343" "01943" "SMAD3_000039" "g.67479870A>C" "" "" "" "SMAD3(NM_005902.3):c.1154+23A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67187532A>C" "" "benign" "" "0000253094" "0" "10" "15" "67457335" "67457335" "subst" "0.867099" "01943" "SMAD3_000012" "g.67457335A>G" "" "" "" "SMAD3(NM_005902.3):c.309A>G (p.L103=), SMAD3(NM_005902.4):c.309A>G (p.L103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67164997A>G" "" "benign" "" "0000256565" "0" "50" "15" "67358676" "67358676" "subst" "0" "01943" "SMAD3_000011" "g.67358676A>C" "" "" "" "SMAD3(NM_005902.3):c.184A>C (p.T62P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67066338A>C" "" "VUS" "" "0000256644" "0" "50" "15" "67457400" "67457400" "subst" "0" "01943" "SMAD3_000013" "g.67457400A>C" "" "" "" "SMAD3(NM_005902.3):c.374A>C (p.Y125S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67165062A>C" "" "VUS" "" "0000299583" "0" "30" "15" "67479818" "67479818" "subst" "8.5273E-5" "02329" "SMAD3_000037" "g.67479818C>T" "" "" "" "SMAD3(NM_005902.3):c.1125C>T (p.S375=), SMAD3(NM_005902.4):c.1125C>T (p.S375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67187480C>T" "" "likely benign" "" "0000299584" "0" "30" "15" "67479821" "67479821" "subst" "4.87278E-5" "02329" "SMAD3_000038" "g.67479821C>T" "" "" "" "SMAD3(NM_005902.4):c.1128C>T (p.F376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67187483C>T" "" "likely benign" "" "0000299588" "0" "30" "15" "67473567" "67473567" "subst" "0" "02329" "SMAD3_000022" "g.67473567C>T" "" "" "" "SMAD3(NM_005902.4):c.659-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67181229C>T" "" "likely benign" "" "0000299589" "0" "50" "15" "67473648" "67473648" "subst" "0" "02329" "SMAD3_000024" "g.67473648G>C" "" "" "" "SMAD3(NM_005902.3):c.728G>C (p.R243P), SMAD3(NM_005902.4):c.728G>C (p.R243P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67181310G>C" "" "VUS" "" "0000299590" "0" "10" "15" "67473790" "67473790" "subst" "0.0155408" "02329" "SMAD3_000030" "g.67473790C>T" "" "" "" "SMAD3(NM_001145102.1):c.555C>T (p.(=)), SMAD3(NM_005902.3):c.870C>T (p.I290=), SMAD3(NM_005902.4):c.870C>T (p.I290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67181452C>T" "" "benign" "" "0000299592" "0" "30" "15" "67477046" "67477046" "subst" "3.65827E-5" "02329" "SMAD3_000032" "g.67477046C>G" "" "" "" "SMAD3(NM_005902.4):c.872-19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67184708C>G" "" "likely benign" "" "0000299593" "0" "30" "15" "67358501" "67358501" "subst" "0" "02329" "SMAD3_000010" "g.67358501C>T" "" "" "" "SMAD3(NM_005902.4):c.9C>T (p.S3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67066163C>T" "" "likely benign" "" "0000302324" "0" "10" "15" "67473790" "67473790" "subst" "0.0155408" "02326" "SMAD3_000030" "g.67473790C>T" "" "" "" "SMAD3(NM_001145102.1):c.555C>T (p.(=)), SMAD3(NM_005902.3):c.870C>T (p.I290=), SMAD3(NM_005902.4):c.870C>T (p.I290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67181452C>T" "" "benign" "" "0000308552" "0" "10" "15" "67358478" "67358478" "subst" "0.232614" "01943" "SMAD3_000009" "g.67358478G>A" "" "" "" "SMAD3(NM_005902.3):c.-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67066140G>A" "" "benign" "" "0000308553" "0" "10" "15" "67358470" "67358470" "subst" "0.00844133" "01943" "SMAD3_000008" "g.67358470C>T" "" "" "" "SMAD3(NM_005902.3):c.-23C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67066132C>T" "" "benign" "" "0000308554" "0" "70" "15" "67479738" "67479738" "subst" "0" "01943" "SMAD3_000035" "g.67479738G>C" "" "" "" "SMAD3(NM_005902.3):c.1045G>C (p.A349P), SMAD3(NM_005902.4):c.1045G>C (p.A349P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67187400G>C" "" "likely pathogenic" "" "0000308555" "0" "90" "15" "67479795" "67479795" "subst" "0" "01943" "SMAD3_000036" "g.67479795C>T" "" "" "" "SMAD3(NM_005902.3):c.1102C>T (p.R368*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67187457C>T" "" "pathogenic" "" "0000308557" "0" "10" "15" "67457485" "67457485" "subst" "0" "01943" "SMAD3_000016" "g.67457485G>C" "" "" "" "SMAD3(NM_005902.3):c.400+59G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67165147G>C" "" "benign" "" "0000308558" "0" "90" "15" "67457585" "67457585" "subst" "0" "01943" "SMAD3_000017" "g.67457585G>A" "" "" "" "SMAD3(NM_005902.3):c.401-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67165247G>A" "" "pathogenic" "" "0000308559" "0" "30" "15" "67457630" "67457630" "subst" "3.24944E-5" "01943" "SMAD3_000018" "g.67457630C>T" "" "" "" "SMAD3(NM_005902.3):c.440C>T (p.P147L, p.(Pro147Leu)), SMAD3(NM_005902.4):c.440C>T (p.P147L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67165292C>T" "" "likely benign" "" "0000308560" "0" "30" "15" "67457685" "67457685" "subst" "0" "01943" "SMAD3_000020" "g.67457685C>A" "" "" "" "SMAD3(NM_005902.3):c.495C>A (p.N165K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67165347C>A" "" "likely benign" "" "0000308561" "0" "10" "15" "67473607" "67473607" "subst" "0.00012622" "01943" "SMAD3_000023" "g.67473607G>A" "" "" "" "SMAD3(NM_005902.3):c.687G>A (p.P229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67181269G>A" "" "benign" "" "0000308562" "0" "50" "15" "67473648" "67473648" "subst" "0" "01943" "SMAD3_000024" "g.67473648G>C" "" "" "" "SMAD3(NM_005902.3):c.728G>C (p.R243P), SMAD3(NM_005902.4):c.728G>C (p.R243P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67181310G>C" "" "VUS" "" "0000308563" "0" "90" "15" "67473661" "67473662" "del" "0" "01943" "SMAD3_000025" "g.67473661_67473662del" "" "" "" "SMAD3(NM_005902.3):c.741_742delAT (p.F248Pfs*62)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67181323_67181324del" "" "pathogenic" "" "0000308564" "0" "50" "15" "67473668" "67473668" "subst" "0" "01943" "SMAD3_000026" "g.67473668G>A" "" "" "" "SMAD3(NM_005902.3):c.748G>A (p.A250T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67181330G>A" "" "VUS" "" "0000308565" "0" "70" "15" "67473702" "67473702" "subst" "0" "01943" "SMAD3_000027" "g.67473702C>T" "" "" "" "SMAD3(NM_005902.3):c.782C>T (p.T261I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67181364C>T" "" "likely pathogenic" "" "0000308566" "0" "70" "15" "67473779" "67473779" "subst" "0" "01943" "SMAD3_000028" "g.67473779C>T" "" "" "" "SMAD3(NM_005902.3):c.859C>T (p.R287W), SMAD3(NM_005902.4):c.859C>T (p.R287W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67181441C>T" "" "likely pathogenic" "" "0000308567" "0" "90" "15" "67473781" "67473781" "del" "0" "01943" "SMAD3_000029" "g.67473781del" "" "" "" "SMAD3(NM_005902.3):c.861delG (p.R288Dfs*53)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67181443del" "" "pathogenic" "" "0000308568" "0" "10" "15" "67473790" "67473790" "subst" "0.0155408" "01943" "SMAD3_000030" "g.67473790C>T" "" "" "" "SMAD3(NM_001145102.1):c.555C>T (p.(=)), SMAD3(NM_005902.3):c.870C>T (p.I290=), SMAD3(NM_005902.4):c.870C>T (p.I290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67181452C>T" "" "benign" "" "0000308569" "0" "30" "15" "67477177" "67477177" "subst" "8.9372E-5" "01943" "SMAD3_000034" "g.67477177G>A" "" "" "" "SMAD3(NM_005902.3):c.984G>A (p.P328=), SMAD3(NM_005902.4):c.984G>A (p.P328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67184839G>A" "" "likely benign" "" "0000405920" "0" "70" "15" "67473780" "67473780" "subst" "0" "02575" "SMAD3_000041" "g.67473780G>A" "" "" "" "" "" "De novo" "-" "rs730880214" "0" "" "" "g.67181442G>A" "" "likely pathogenic" "" "0000480118" "0" "90" "15" "67473760" "67473760" "subst" "0" "02284" "SMAD3_000042" "g.67473760T>G" "" "{PMID:Laterza 2019:31326520}" "" "" "" "Germline" "?" "" "0" "" "" "g.67181422T>G" "" "likely pathogenic" "ACMG" "0000484104" "0" "70" "15" "67473780" "67473780" "subst" "0" "01807" "SMAD3_000041" "g.67473780G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.67181442G>A" "" "likely pathogenic" "" "0000499251" "0" "90" "15" "67482843" "67482843" "subst" "0" "02284" "SMAD3_000044" "g.67482843C>T" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67190505C>T" "" "pathogenic (dominant)" "ACMG" "0000499252" "21" "90" "15" "67477203" "67477203" "subst" "0" "02284" "SMAD3_000045" "g.67477203G>A" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "RT-PCR on patient\'s cDNA demostrated skipping of exon 7" "Germline" "yes" "" "0" "" "" "g.67184865G>A" "" "pathogenic (dominant)" "ACMG" "0000499253" "0" "90" "15" "67473723" "67473723" "subst" "0" "02284" "SMAD3_000043" "g.67473723G>A" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "" "Germline" "" "rs863223740" "0" "" "" "g.67181385G>A" "{CV-RCV:000222953.2}" "pathogenic (dominant)" "ACMG" "0000499254" "11" "90" "15" "67473782" "67473799" "del" "0" "02284" "SMAD3_000046" "g.67473782_67473799del" "" "{PMID:Camerota 2019:31569402}, {DOI:Camerota 2019:10.3390/genes10100764}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67181444_67181461del" "" "pathogenic (dominant)" "ACMG" "0000555221" "0" "70" "15" "67358493" "67358493" "subst" "0" "02329" "SMAD3_000047" "g.67358493A>T" "" "" "" "SMAD3(NM_005902.4):c.1A>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67066155A>T" "" "likely pathogenic" "" "0000555222" "0" "50" "15" "67358544" "67358555" "del" "0" "01943" "SMAD3_000048" "g.67358544_67358555del" "" "" "" "SMAD3(NM_005902.3):c.52_63delTGGAAGAAGGGC (p.W18_G21del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67066206_67066217del" "" "VUS" "" "0000555223" "0" "50" "15" "67358553" "67358553" "subst" "0" "01943" "SMAD3_000049" "g.67358553G>T" "" "" "" "SMAD3(NM_005902.3):c.61G>T (p.G21C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67066215G>T" "" "VUS" "" "0000555224" "0" "70" "15" "67457255" "67457255" "subst" "0" "02329" "SMAD3_000050" "g.67457255G>A" "" "" "" "SMAD3(NM_005902.4):c.229G>A (p.V77M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67164917G>A" "" "likely pathogenic" "" "0000555225" "0" "70" "15" "67457264" "67457264" "subst" "0" "02329" "SMAD3_000051" "g.67457264C>G" "" "" "" "SMAD3(NM_005902.4):c.238C>G (p.R80G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67164926C>G" "" "likely pathogenic" "" "0000555226" "0" "30" "15" "67457342" "67457342" "subst" "0.000223363" "01804" "SMAD3_000003" "g.67457342A>G" "" "" "" "SMAD3(NM_001145102.1):c.1A>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67165004A>G" "" "likely benign" "" "0000555227" "0" "90" "15" "67457417" "67457420" "dup" "0" "02329" "SMAD3_000052" "g.67457417_67457420dup" "" "" "" "SMAD3(NM_005902.4):c.391_394dupGAGA (p.T132Rfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67165079_67165082dup" "" "pathogenic" "" "0000555228" "0" "50" "15" "67457420" "67457420" "subst" "1.62468E-5" "02329" "SMAD3_000053" "g.67457420A>G" "" "" "" "SMAD3(NM_005902.4):c.394A>G (p.T132A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67165082A>G" "" "VUS" "" "0000555229" "0" "10" "15" "67457485" "67457486" "ins" "0" "01943" "SMAD3_000054" "g.67457485_67457486insC" "" "" "" "SMAD3(NM_005902.3):c.400+59_400+60insC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67165147_67165148insC" "" "benign" "" "0000555230" "0" "30" "15" "67457584" "67457584" "subst" "3.65857E-5" "01804" "SMAD3_000055" "g.67457584C>T" "" "" "" "SMAD3(NM_001145102.1):c.86-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67165246C>T" "" "likely benign" "" "0000555231" "0" "50" "15" "67457591" "67457591" "subst" "8.12717E-6" "01943" "SMAD3_000056" "g.67457591T>C" "" "" "" "SMAD3(NM_005902.3):c.401T>C (p.V134A), SMAD3(NM_005902.4):c.401T>C (p.V134A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67165253T>C" "" "VUS" "" "0000555232" "0" "50" "15" "67457591" "67457591" "subst" "8.12717E-6" "02329" "SMAD3_000056" "g.67457591T>C" "" "" "" "SMAD3(NM_005902.3):c.401T>C (p.V134A), SMAD3(NM_005902.4):c.401T>C (p.V134A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67165253T>C" "" "VUS" "" "0000555233" "0" "90" "15" "67457682" "67457682" "dup" "0" "02329" "SMAD3_000057" "g.67457682dup" "" "" "" "SMAD3(NM_005902.4):c.492dupT (p.N165*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67165344dup" "" "pathogenic" "" "0000555234" "0" "30" "15" "67457698" "67457698" "subst" "0.0397878" "01804" "SMAD3_000021" "g.67457698A>G" "" "" "" "SMAD3(NM_001145102.1):c.193A>G (p.(Ile65Val)), SMAD3(NM_005902.3):c.508A>G (p.I170V), SMAD3(NM_005902.4):c.508A>G (p.I170V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67165360A>G" "" "likely benign" "" "0000555235" "0" "30" "15" "67457732" "67457737" "dup" "0" "01943" "SMAD3_000058" "g.67457732_67457737dup" "" "" "" "SMAD3(NM_005902.3):c.532+8_532+13dupCGTGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67165394_67165399dup" "" "likely benign" "" "0000555236" "0" "30" "15" "67459038" "67459038" "subst" "0" "02329" "SMAD3_000059" "g.67459038G>A" "" "" "" "SMAD3(NM_005902.4):c.533-79G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67166700G>A" "" "likely benign" "" "0000555237" "0" "50" "15" "67462941" "67462941" "subst" "0" "02329" "SMAD3_000060" "g.67462941G>C" "" "" "" "SMAD3(NM_005902.4):c.657G>C (p.L219F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67170603G>C" "" "VUS" "" "0000555238" "0" "50" "15" "67473705" "67473705" "subst" "0" "02329" "SMAD3_000061" "g.67473705A>G" "" "" "" "SMAD3(NM_005902.4):c.785A>G (p.D262G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67181367A>G" "" "VUS" "" "0000555239" "0" "70" "15" "67473722" "67473722" "subst" "0" "01943" "SMAD3_000062" "g.67473722C>T" "" "" "" "SMAD3(NM_005902.3):c.802C>T (p.R268C), SMAD3(NM_005902.4):c.802C>T (p.R268C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67181384C>T" "" "likely pathogenic" "" "0000555240" "0" "70" "15" "67473722" "67473722" "subst" "0" "02329" "SMAD3_000062" "g.67473722C>T" "" "" "" "SMAD3(NM_005902.3):c.802C>T (p.R268C), SMAD3(NM_005902.4):c.802C>T (p.R268C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67181384C>T" "" "likely pathogenic" "" "0000555241" "0" "30" "15" "67473790" "67473790" "subst" "0.0155408" "01804" "SMAD3_000030" "g.67473790C>T" "" "" "" "SMAD3(NM_001145102.1):c.555C>T (p.(=)), SMAD3(NM_005902.3):c.870C>T (p.I290=), SMAD3(NM_005902.4):c.870C>T (p.I290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67181452C>T" "" "likely benign" "" "0000555242" "0" "10" "15" "67473812" "67473813" "dup" "0" "02329" "SMAD3_000063" "g.67473812_67473813dup" "" "" "" "SMAD3(NM_005902.4):c.871+21_871+22dupCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67181474_67181475dup" "" "benign" "" "0000555243" "0" "10" "15" "67473813" "67473814" "ins" "0" "02329" "SMAD3_000065" "g.67473813_67473814insCCCCCCCCCCCCCCCCCCC" "" "" "" "SMAD3(NM_005902.4):c.871+22_871+23insCCCCCCCCCCCCCCCCCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67181475_67181476insCCCCCCCCCCCCCCCCCCC" "" "benign" "" "0000555244" "0" "30" "15" "67473813" "67473813" "dup" "0" "02329" "SMAD3_000064" "g.67473813dup" "" "" "" "SMAD3(NM_005902.4):c.871+22dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67181475dup" "" "likely benign" "" "0000555245" "0" "30" "15" "67473814" "67473814" "subst" "0.00320832" "02329" "SMAD3_000066" "g.67473814G>C" "" "" "" "SMAD3(NM_005902.4):c.871+23G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67181476G>C" "" "likely benign" "" "0000555246" "0" "30" "15" "67477061" "67477061" "subst" "2.43742E-5" "01804" "SMAD3_000067" "g.67477061G>A" "" "" "" "SMAD3(NM_001145102.1):c.557-4G>A (p.?), SMAD3(NM_005902.3):c.872-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67184723G>A" "" "likely benign" "" "0000555247" "0" "70" "15" "67477073" "67477073" "subst" "0" "02327" "SMAD3_000068" "g.67477073G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67184735G>A" "" "likely pathogenic" "" "0000555248" "0" "30" "15" "67477078" "67477078" "subst" "7.7173E-5" "01943" "SMAD3_000069" "g.67477078G>A" "" "" "" "SMAD3(NM_005902.3):c.885G>A (p.R295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67184740G>A" "" "likely benign" "" "0000555249" "0" "30" "15" "67477177" "67477177" "subst" "0" "02329" "SMAD3_000070" "g.67477177G>C" "" "" "" "SMAD3(NM_005902.4):c.984G>C (p.P328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67184839G>C" "" "likely benign" "" "0000555250" "0" "90" "15" "67479701" "67479701" "subst" "0" "02329" "SMAD3_000071" "g.67479701A>G" "" "" "" "SMAD3(NM_005902.4):c.1010-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67187363A>G" "" "pathogenic" "" "0000555251" "0" "30" "15" "67479818" "67479818" "subst" "8.5273E-5" "01943" "SMAD3_000037" "g.67479818C>T" "" "" "" "SMAD3(NM_005902.3):c.1125C>T (p.S375=), SMAD3(NM_005902.4):c.1125C>T (p.S375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67187480C>T" "" "likely benign" "" "0000555252" "0" "70" "15" "67482748" "67482748" "subst" "0" "02327" "SMAD3_000072" "g.67482748C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67190410C>G" "" "likely pathogenic" "" "0000555253" "0" "90" "15" "67482775" "67482775" "dup" "0" "02329" "SMAD3_000073" "g.67482775dup" "" "" "" "SMAD3(NM_005902.4):c.1179dupC (p.C394Lfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67190437dup" "" "pathogenic" "" "0000600904" "0" "50" "15" "67406475" "67406475" "subst" "0" "03464" "SMAD3_000002" "g.67406475G>A" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs8038623" "0" "" "" "g.67114137G>A" "" "VUS" "" "0000600905" "0" "50" "15" "67365622" "67365622" "subst" "0" "03464" "SMAD3_000001" "g.67365622A>G" "" "{PMID:Sebastiani 2008:17918249}" "" "" "" "Germline" "" "rs10518707" "0" "" "" "g.67073284A>G" "" "VUS" "" "0000615467" "0" "50" "15" "67457330" "67457330" "subst" "0" "02327" "SMAD3_000075" "g.67457330G>A" "" "" "" "SMAD3(NM_005902.3):c.304G>A (p.E102K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67164992G>A" "" "VUS" "" "0000615468" "0" "30" "15" "67457342" "67457342" "subst" "0.000223363" "02327" "SMAD3_000003" "g.67457342A>G" "" "" "" "SMAD3(NM_001145102.1):c.1A>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67165004A>G" "" "likely benign" "" "0000615469" "0" "50" "15" "67457420" "67457420" "subst" "1.62468E-5" "02327" "SMAD3_000053" "g.67457420A>G" "" "" "" "SMAD3(NM_005902.4):c.394A>G (p.T132A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67165082A>G" "" "VUS" "" "0000615470" "0" "30" "15" "67457431" "67457431" "subst" "1.21893E-5" "02327" "SMAD3_000076" "g.67457431G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67165093G>T" "" "likely benign" "" "0000615471" "0" "90" "15" "67457585" "67457585" "subst" "0" "02327" "SMAD3_000017" "g.67457585G>A" "" "" "" "SMAD3(NM_005902.3):c.401-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67165247G>A" "" "pathogenic" "" "0000615472" "0" "50" "15" "67457633" "67457633" "subst" "0" "02327" "SMAD3_000077" "g.67457633C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67165295C>A" "" "VUS" "" "0000615473" "0" "30" "15" "67457634" "67457634" "subst" "0" "02327" "SMAD3_000078" "g.67457634C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67165296C>G" "" "likely benign" "" "0000615474" "0" "30" "15" "67457647" "67457647" "subst" "0.00022742" "02327" "SMAD3_000079" "g.67457647C>T" "" "" "" "SMAD3(NM_005902.3):c.457C>T (p.L153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67165309C>T" "" "likely benign" "" "0000615475" "0" "10" "15" "67457698" "67457698" "subst" "0.0397878" "02327" "SMAD3_000021" "g.67457698A>G" "" "" "" "SMAD3(NM_001145102.1):c.193A>G (p.(Ile65Val)), SMAD3(NM_005902.3):c.508A>G (p.I170V), SMAD3(NM_005902.4):c.508A>G (p.I170V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67165360A>G" "" "benign" "" "0000615476" "0" "30" "15" "67459181" "67459181" "subst" "0" "02327" "SMAD3_000080" "g.67459181C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67166843C>T" "" "likely benign" "" "0000615477" "0" "70" "15" "67477135" "67477135" "subst" "0" "02327" "SMAD3_000081" "g.67477135T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67184797T>G" "" "likely pathogenic" "" "0000615478" "0" "50" "15" "67479844" "67479844" "subst" "0" "02327" "SMAD3_000082" "g.67479844A>G" "" "" "" "SMAD3(NM_005902.3):c.1151A>G (p.Y384C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67187506A>G" "" "VUS" "" "0000649138" "1" "70" "15" "67457303" "67457303" "subst" "8.12295E-6" "03575" "SMAD3_000083" "g.67457303C>T" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs768713596}" "Germline" "" "rs768713596" "0" "" "" "g.67164965C>T" "" "likely pathogenic" "" "0000649139" "1" "50" "15" "67473653" "67473653" "subst" "0" "03575" "SMAD3_000084" "g.67473653G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs863223737}" "Germline" "" "rs863223737" "0" "" "" "g.67181315G>A" "" "VUS" "" "0000649140" "1" "50" "15" "67473708" "67473708" "subst" "0" "03575" "SMAD3_000085" "g.67473708C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs387906855}" "Germline" "" "rs387906855" "0" "" "" "g.67181370C>T" "" "VUS" "" "0000649141" "1" "30" "15" "67473790" "67473790" "subst" "0.0155408" "03575" "SMAD3_000030" "g.67473790C>T" "55/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "55 heterozygous; {DB:CLININrs117185005}" "Germline" "" "rs117185005" "0" "" "" "g.67181452C>T" "" "likely benign" "" "0000649142" "1" "30" "15" "67483717" "67483717" "subst" "0" "03575" "SMAD3_000086" "g.67483717G>A" "84/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "84 heterozygous; {DB:CLININrs55970514}" "Germline" "" "rs55970514" "0" "" "" "g.67191379G>A" "" "likely benign" "" "0000657641" "0" "30" "15" "67462999" "67462999" "subst" "0" "02329" "SMAD3_000087" "g.67462999T>C" "" "" "" "SMAD3(NM_005902.4):c.658+57T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67170661T>C" "" "likely benign" "" "0000657642" "0" "30" "15" "67473805" "67473805" "subst" "0" "02326" "SMAD3_000088" "g.67473805C>T" "" "" "" "SMAD3(NM_005902.3):c.871+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67181467C>T" "" "likely benign" "" "0000657643" "0" "50" "15" "67482783" "67482783" "subst" "0" "01943" "SMAD3_000089" "g.67482783T>C" "" "" "" "SMAD3(NM_005902.3):c.1187T>C (p.I396T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67190445T>C" "" "VUS" "" "0000660205" "0" "50" "15" "67457279" "67457279" "subst" "0" "01741" "SMAD3_000090" "g.67457279C>G" "" "" "" "" "pathogenic tendency" "Germline/De novo (untested)" "" "" "" "" "" "g.67164941C>G" "" "VUS" "" "0000669293" "3" "30" "15" "67473790" "67473790" "subst" "0.0155408" "03575" "SMAD3_000030" "g.67473790C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs117185005}" "Germline" "" "rs117185005" "0" "" "" "g.67181452C>T" "" "likely benign" "" "0000669294" "3" "30" "15" "67483717" "67483717" "subst" "0" "03575" "SMAD3_000086" "g.67483717G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs55970514}" "Germline" "" "rs55970514" "0" "" "" "g.67191379G>A" "" "likely benign" "" "0000680265" "0" "30" "15" "67457736" "67457736" "subst" "2.03628E-5" "02326" "SMAD3_000091" "g.67457736C>T" "" "" "" "SMAD3(NM_005902.3):c.532+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691841" "0" "50" "15" "67457330" "67457330" "subst" "0" "02326" "SMAD3_000075" "g.67457330G>A" "" "" "" "SMAD3(NM_005902.3):c.304G>A (p.E102K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725268" "0" "30" "15" "67457647" "67457647" "subst" "0.00022742" "01943" "SMAD3_000079" "g.67457647C>T" "" "" "" "SMAD3(NM_005902.3):c.457C>T (p.L153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725269" "0" "30" "15" "67477126" "67477126" "subst" "2.43663E-5" "02329" "SMAD3_000092" "g.67477126C>T" "" "" "" "SMAD3(NM_005902.4):c.933C>T (p.S311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806878" "0" "90" "15" "67430436" "67430436" "del" "0" "01943" "SMAD3_000093" "g.67430436del" "" "" "" "SMAD3(NM_001145103.1):c.72delG (p.(Arg25fs)), SMAD3(NM_001145103.1):c.72delG (p.R25Gfs*47)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000806879" "0" "50" "15" "67457615" "67457615" "subst" "0" "02325" "SMAD3_000094" "g.67457615G>A" "" "" "" "SMAD3(NM_005902.4):c.425G>A (p.R142H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806880" "0" "70" "15" "67473653" "67473653" "subst" "0" "02329" "SMAD3_000084" "g.67473653G>A" "" "" "" "SMAD3(NM_005902.4):c.733G>A (p.G245R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000806881" "0" "30" "15" "67477177" "67477177" "subst" "8.9372E-5" "02326" "SMAD3_000034" "g.67477177G>A" "" "" "" "SMAD3(NM_005902.3):c.984G>A (p.P328=), SMAD3(NM_005902.4):c.984G>A (p.P328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806882" "0" "30" "15" "67477177" "67477177" "subst" "8.9372E-5" "02329" "SMAD3_000034" "g.67477177G>A" "" "" "" "SMAD3(NM_005902.3):c.984G>A (p.P328=), SMAD3(NM_005902.4):c.984G>A (p.P328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806883" "0" "50" "15" "67479810" "67479810" "subst" "0" "01943" "SMAD3_000095" "g.67479810C>T" "" "" "" "SMAD3(NM_005902.3):c.1117C>T (p.R373C), SMAD3(NM_005902.4):c.1117C>T (p.R373C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000831232" "21" "90" "15" "67358568" "67358568" "subst" "0" "01903" "SMAD3_000096" "g.67358568C>T" "" "submitted" "" "" "" "Germline" "" "" "0" "" "" "g.67066230C>T" "" "pathogenic (dominant)" "ACMG" "0000831643" "10" "90" "15" "67473578" "67473792" "del" "0" "01903" "SMAD3_000098" "g.(67462943_67473578)_(67473792_67477064)del" "" "{PMID:Overwater 2018:29907982}" "" "g.67473579_67473791del" "probable another individual also detected by Invitae as VCV000584063.3, to be confirmed." "Germline" "yes" "" "0" "" "" "g.(67170605_67181240)_(67181454_67184726)del" "" "pathogenic" "ACMG" "0000831655" "11" "90" "15" "67408242" "67603013" "del" "0" "01903" "SMAD3_000097" "g.(?_67408242)_(67603013_?)del" "" "" "" "Ensembl54-liftover-hg19" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "other" "0000831662" "1" "90" "15" "67408242" "67603013" "del" "0" "00006" "SMAD3_000097" "g.(?_67408242)_(67603013_?)del" "" "{PMID:Hilhorst-Hofstee 2013:22803640}" "" "hg18 65195296-65390067del" "reduced penetrance; includes genes SMAD3, AC012568.7, IQCH" "Germline" "yes" "" "0" "" "" "g.(?_67115904)_(67310675_?)del" "" "pathogenic (!)" "" "0000831708" "1" "70" "15" "67358493" "67358493" "subst" "0" "00006" "SMAD3_000047" "g.67358493A>T" "9/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.67066155A>T" "" "likely pathogenic" "" "0000831709" "1" "70" "15" "67457417" "67457420" "dup" "0" "00006" "SMAD3_000052" "g.67457417_67457420dup" "4/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.67165079_67165082dup" "" "likely pathogenic" "" "0000831710" "1" "70" "15" "67457682" "67457682" "dup" "0" "00006" "SMAD3_000057" "g.67457682dup" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67165344dup" "" "likely pathogenic" "" "0000831711" "1" "70" "15" "67473722" "67473722" "subst" "0" "00006" "SMAD3_000062" "g.67473722C>T" "11/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67181384C>T" "" "likely pathogenic" "" "0000831712" "1" "70" "15" "67477086" "67477086" "subst" "0" "00006" "SMAD3_000033" "g.67477086A>G" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67184748A>G" "" "likely pathogenic" "" "0000831713" "1" "70" "15" "67479701" "67479701" "subst" "0" "00006" "SMAD3_000071" "g.67479701A>G" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.67187363A>G" "" "likely pathogenic" "" "0000831714" "1" "90" "15" "67482775" "67482775" "dup" "0" "00006" "SMAD3_000073" "g.67482775dup" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67190437dup" "" "pathogenic" "" "0000831796" "1" "50" "15" "67457420" "67457420" "subst" "1.62468E-5" "00006" "SMAD3_000053" "g.67457420A>G" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.67165082A>G" "" "VUS" "" "0000831797" "1" "50" "15" "67457591" "67457591" "subst" "8.12717E-6" "00006" "SMAD3_000056" "g.67457591T>C" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.67165253T>C" "" "VUS" "" "0000831798" "1" "50" "15" "67473705" "67473705" "subst" "0" "00006" "SMAD3_000061" "g.67473705A>G" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67181367A>G" "" "VUS" "" "0000831844" "1" "90" "15" "67358494" "67358494" "subst" "0" "00006" "SMAD3_000100" "g.67358494T>C" "" "{PMID:Schepers 2018:29392890}" "" "Met1Thr" "ACMG PM2, PVS1, PP2" "SUMMARY record" "" "" "0" "" "" "g.67066156T>C" "" "pathogenic" "ACMG" "0000831845" "1" "90" "15" "67358495" "67358495" "subst" "0" "00006" "SMAD3_000101" "g.67358495G>A" "" "{PMID:Schepers 2018:29392890}" "" "Met1Ile" "ACMG PM2, PVS1, PP2" "SUMMARY record" "" "" "0" "" "" "g.67066157G>A" "" "pathogenic" "ACMG" "0000831846" "1" "70" "15" "67457247" "67457247" "subst" "0" "00006" "SMAD3_000102" "g.67457247G>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PM5, PP2, PP1, PP4" "SUMMARY record" "" "" "0" "" "" "g.67164909G>A" "" "likely pathogenic" "ACMG" "0000831847" "1" "90" "15" "67457292" "67457292" "subst" "0" "00006" "SMAD3_000103" "g.67457292G>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP2, PP1-S, PP1-M, PP1, PP4" "SUMMARY record" "" "" "0" "" "" "g.67164954G>A" "" "pathogenic" "ACMG" "0000831848" "1" "70" "15" "67457295" "67457295" "subst" "0" "00006" "SMAD3_000104" "g.67457295G>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP2, PP1, PP1-M, PP4" "SUMMARY record" "" "" "0" "" "" "g.67164957G>A" "" "likely pathogenic" "ACMG" "0000831849" "1" "50" "15" "67457307" "67457307" "subst" "0" "00006" "SMAD3_000105" "g.67457307G>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP2, PP1, PP4" "SUMMARY record" "" "" "0" "" "" "g.67164969G>T" "" "VUS" "ACMG" "0000831850" "1" "50" "15" "67457316" "67457316" "subst" "0" "00006" "SMAD3_000106" "g.67457316T>G" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP2, PP4" "SUMMARY record" "" "" "0" "" "" "g.67164978T>G" "" "VUS" "ACMG" "0000831851" "1" "90" "15" "67457326" "67457327" "ins" "0" "00006" "SMAD3_000107" "g.67457326_67457327insAGGGCCGGCAGGC" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PVS1, PP4" "SUMMARY record" "" "" "0" "" "" "g.67164988_67164989insAGGGCCGGCAGGC" "" "pathogenic" "ACMG" "0000831852" "1" "90" "15" "67457339" "67457339" "del" "0" "00006" "SMAD3_000108" "g.67457339del" "" "{PMID:Schepers 2018:29392890}" "" "c.313delG" "ACMG PM2, PVS1, PP4" "SUMMARY record" "" "" "0" "" "" "g.67165001del" "" "pathogenic" "ACMG" "0000831853" "1" "70" "15" "67457361" "67457361" "subst" "0" "00006" "SMAD3_000109" "g.67457361C>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP2, PP1-M, PP4" "SUMMARY record" "" "" "0" "" "" "g.67165023C>T" "" "likely pathogenic" "ACMG" "0000831854" "1" "50" "15" "67457396" "67457396" "subst" "0" "00006" "SMAD3_000110" "g.67457396C>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP2, PP5, PP4" "SUMMARY record" "" "" "0" "" "" "g.67165058C>A" "" "VUS" "ACMG" "0000831855" "1" "70" "15" "67457400" "67457400" "subst" "0" "00006" "SMAD3_000111" "g.67457400A>G" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PM5, PP2, PP4" "SUMMARY record" "" "" "0" "" "" "g.67165062A>G" "" "likely pathogenic" "ACMG" "0000831856" "1" "70" "15" "67457400" "67457400" "subst" "0" "00006" "SMAD3_000013" "g.67457400A>C" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PM5, PP2, PP4" "SUMMARY record" "" "" "0" "" "" "g.67165062A>C" "" "likely pathogenic" "ACMG" "0000831857" "1" "90" "15" "67457585" "67457585" "subst" "0" "00006" "SMAD3_000017" "g.67457585G>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PVS1, PS1, PP4" "SUMMARY record" "" "" "0" "" "" "g.67165247G>A" "" "pathogenic" "ACMG" "0000831858" "1" "90" "15" "67457591" "67457595" "dup" "0" "00006" "SMAD3_000112" "g.67457591_67457595dup" "" "{PMID:Schepers 2018:29392890}" "" "c.401_405dup" "ACMG PM2, PVS1, PP4" "SUMMARY record" "" "" "0" "" "" "g.67165253_67165257dup" "" "pathogenic" "ACMG" "0000831859" "1" "90" "15" "67457645" "67457645" "del" "0" "00006" "SMAD3_000113" "g.67457645del" "" "{PMID:Schepers 2018:29392890}" "" "c.455delC" "ACMG PM2, PVS1, PP4" "SUMMARY record" "" "" "0" "" "" "g.67165307del" "" "pathogenic" "ACMG" "0000831860" "1" "90" "15" "67457701" "67457701" "subst" "0" "00006" "SMAD3_000114" "g.67457701G>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PVS1, PP4" "SUMMARY record" "" "" "0" "" "" "g.67165363G>T" "" "pathogenic" "ACMG" "0000831861" "1" "90" "15" "67457723" "67457723" "subst" "0" "00006" "SMAD3_000115" "g.67457723G>C" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PVS1, PP4" "SUMMARY record" "" "" "0" "" "" "g.67165385G>C" "" "pathogenic" "ACMG" "0000831862" "1" "90" "15" "67459123" "67459123" "dup" "0" "00006" "SMAD3_000116" "g.67459123dup" "" "{PMID:Schepers 2018:29392890}" "" "c.539_540insC" "ACMG PM2, PVS1, PS1, PP4" "SUMMARY record" "" "" "0" "" "" "g.67166785dup" "" "pathogenic" "ACMG" "0000831863" "1" "90" "15" "67459130" "67459130" "del" "0" "00006" "SMAD3_000117" "g.67459130del" "" "{PMID:Schepers 2018:29392890}" "" "c.546delT" "ACMG PM2, PVS1, PP4" "SUMMARY record" "" "" "0" "" "" "g.67166792del" "" "pathogenic" "ACMG" "0000831864" "1" "90" "15" "67459168" "67459169" "ins" "0" "00006" "SMAD3_000118" "g.67459168_67459169insTC" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PP4, PVS1, PM2, PM4" "SUMMARY record" "" "" "0" "" "" "g.67166830_67166831insTC" "" "pathogenic" "ACMG" "0000831865" "1" "90" "15" "67462937" "67462937" "del" "0" "00006" "SMAD3_000119" "g.67462937del" "" "{PMID:Schepers 2018:29392890}" "" "c.652delA" "ACMG PM2, PVS1, PM4, PP1-M" "SUMMARY record" "" "" "0" "" "" "g.67170599del" "" "pathogenic" "ACMG" "0000831866" "1" "90" "15" "67473588" "67473588" "del" "0" "00006" "SMAD3_000120" "g.67473588del" "" "{PMID:Schepers 2018:29392890}" "" "c.668delC" "ACMG PM2, PVS1, PP4" "SUMMARY record" "" "" "0" "" "" "g.67181250del" "" "pathogenic" "ACMG" "0000831867" "1" "90" "15" "67473635" "67473635" "subst" "0" "00006" "SMAD3_000121" "g.67473635G>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PS1, PP2, PP1-S" "SUMMARY record" "" "" "0" "" "" "g.67181297G>A" "" "pathogenic" "ACMG" "0000831868" "1" "70" "15" "67473648" "67473648" "subst" "0" "00006" "SMAD3_000024" "g.67473648G>C" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP2, PP3, PP1-S, PP4" "SUMMARY record" "" "" "0" "" "" "g.67181310G>C" "" "likely pathogenic" "ACMG" "0000831869" "1" "70" "15" "67473653" "67473653" "subst" "0" "00006" "SMAD3_000084" "g.67473653G>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP5, PP4, PP2" "SUMMARY record" "" "" "0" "" "" "g.67181315G>A" "" "likely pathogenic" "ACMG" "0000831870" "1" "90" "15" "67473661" "67473662" "del" "0" "00006" "SMAD3_000025" "g.67473661_67473662del" "" "{PMID:Schepers 2018:29392890}" "" "c.741_742delAT" "ACMG PM2, PVS1, PP4" "SUMMARY record" "" "" "0" "" "" "g.67181323_67181324del" "" "pathogenic" "ACMG" "0000831871" "1" "70" "15" "67473662" "67473662" "subst" "0" "00006" "SMAD3_000122" "g.67473662T>C" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PP4, PP5" "SUMMARY record" "" "" "0" "" "" "g.67181324T>C" "" "likely pathogenic" "ACMG" "0000831872" "1" "70" "15" "67473668" "67473668" "subst" "0" "00006" "SMAD3_000026" "g.67473668G>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PP1-S" "SUMMARY record" "" "" "0" "" "" "g.67181330G>A" "" "likely pathogenic" "ACMG" "0000831873" "1" "90" "15" "67473682" "67473682" "del" "0" "00006" "SMAD3_000123" "g.67473682del" "" "{PMID:Schepers 2018:29392890}" "" "c.762delC" "ACMG PM2, PVS1, PP4, PP5" "SUMMARY record" "" "" "0" "" "" "g.67181344del" "" "pathogenic" "ACMG" "0000831874" "1" "70" "15" "67473692" "67473692" "subst" "0" "00006" "SMAD3_000124" "g.67473692G>C" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP2, PP5, PP4, PP3" "SUMMARY record" "" "" "0" "" "" "g.67181354G>C" "" "likely pathogenic" "ACMG" "0000831875" "1" "90" "15" "67473702" "67473702" "subst" "0" "00006" "SMAD3_000027" "g.67473702C>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PP5, PP1-S, PP4" "SUMMARY record" "" "" "0" "" "" "g.67181364C>T" "" "pathogenic" "ACMG" "0000831876" "1" "50" "15" "67473708" "67473708" "subst" "0" "00006" "SMAD3_000085" "g.67473708C>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PP4" "SUMMARY record" "" "" "0" "" "" "g.67181370C>T" "" "VUS" "ACMG" "0000831877" "1" "90" "15" "67473717" "67473717" "subst" "0" "00006" "SMAD3_000125" "g.67473717C>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PVS1, PP4" "SUMMARY record" "" "" "0" "" "" "g.67181379C>A" "" "pathogenic" "ACMG" "0000831878" "1" "70" "15" "67473723" "67473723" "subst" "0" "00006" "SMAD3_000126" "g.67473723G>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PS1, PP3, PP2, PP4" "SUMMARY record" "" "" "0" "" "" "g.67181385G>T" "" "likely pathogenic" "ACMG" "0000831879" "1" "70" "15" "67473756" "67473756" "subst" "0" "00006" "SMAD3_000127" "g.67473756G>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PP1, PP4" "SUMMARY record" "" "" "0" "" "" "g.67181418G>A" "" "likely pathogenic" "ACMG" "0000831880" "1" "70" "15" "67473779" "67473779" "subst" "0" "00006" "SMAD3_000028" "g.67473779C>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PS1, PP3, PP2, PP4" "SUMMARY record" "" "" "0" "" "" "g.67181441C>T" "" "likely pathogenic" "ACMG" "0000831881" "1" "70" "15" "67473780" "67473780" "subst" "0" "00006" "SMAD3_000041" "g.67473780G>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PS1, PM5, PP3" "SUMMARY record" "" "" "0" "" "" "g.67181442G>A" "" "likely pathogenic" "ACMG" "0000831882" "1" "90" "15" "67473781" "67473781" "del" "0" "00006" "SMAD3_000029" "g.67473781del" "" "{PMID:Schepers 2018:29392890}" "" "c.861delG" "ACMG PM2, PVS1, PP3, PP2" "SUMMARY record" "" "" "0" "" "" "g.67181443del" "" "pathogenic" "ACMG" "0000831883" "1" "90" "15" "67473782" "67473792" "dup" "0" "00006" "SMAD3_000128" "g.67473782_67473792dup" "" "{PMID:Schepers 2018:29392890}" "" "c.862_871+1dupAGACACATCGG" "ACMG PM2, PVS1, PP3" "SUMMARY record" "" "" "0" "" "" "g.67181444_67181454dup" "" "pathogenic" "ACMG" "0000831884" "1" "70" "15" "67477080" "67477080" "subst" "0" "00006" "SMAD3_000129" "g.67477080T>C" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PP1-M" "SUMMARY record" "" "" "0" "" "" "g.67184742T>C" "" "likely pathogenic" "ACMG" "0000831885" "1" "70" "15" "67477181" "67477181" "subst" "0" "00006" "SMAD3_000130" "g.67477181A>G" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP1, PP4, PP2" "SUMMARY record" "" "" "0" "" "" "g.67184843A>G" "" "likely pathogenic" "ACMG" "0000831886" "1" "90" "15" "67477203" "67477203" "subst" "0" "00006" "SMAD3_000045" "g.67477203G>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PVS1, PP3" "SUMMARY record" "" "" "0" "" "" "g.67184865G>A" "" "pathogenic" "ACMG" "0000831887" "1" "90" "15" "67477204" "67477204" "subst" "0" "00006" "SMAD3_000131" "g.67477204T>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PVS1, PP3" "SUMMARY record" "" "" "0" "" "" "g.67184866T>A" "" "pathogenic" "ACMG" "0000831888" "1" "70" "15" "67479738" "67479738" "subst" "0" "00006" "SMAD3_000035" "g.67479738G>C" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PP1-M" "SUMMARY record" "" "" "0" "" "" "g.67187400G>C" "" "likely pathogenic" "ACMG" "0000831889" "1" "90" "15" "67479773" "67479773" "dup" "0" "00006" "SMAD3_000132" "g.67479773dup" "" "{PMID:Schepers 2018:29392890}" "" "c.1080dupT" "ACMG PM2, PVS1, PP3, PS1" "SUMMARY record" "" "" "0" "" "" "g.67187435dup" "" "pathogenic" "ACMG" "0000831890" "1" "90" "15" "67479774" "67479774" "subst" "0" "00006" "SMAD3_000133" "g.67479774G>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PVS1, PS1" "SUMMARY record" "" "" "0" "" "" "g.67187436G>T" "" "pathogenic" "ACMG" "0000831891" "1" "70" "15" "67479784" "67479784" "subst" "0" "00006" "SMAD3_000134" "g.67479784A>G" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PP1, PP4" "SUMMARY record" "" "" "0" "" "" "g.67187446A>G" "" "likely pathogenic" "ACMG" "0000831892" "1" "90" "15" "67479795" "67479795" "subst" "0" "00006" "SMAD3_000036" "g.67479795C>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PVS1, PS1" "SUMMARY record" "" "" "0" "" "" "g.67187457C>T" "" "pathogenic" "ACMG" "0000831893" "1" "70" "15" "67479834" "67479834" "subst" "0" "00006" "SMAD3_000135" "g.67479834G>C" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PP1-M" "SUMMARY record" "" "" "0" "" "" "g.67187496G>C" "" "likely pathogenic" "ACMG" "0000831894" "1" "90" "15" "67482749" "67482749" "subst" "0" "00006" "SMAD3_000136" "g.67482749A>G" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PVS1, PP3" "SUMMARY record" "" "" "0" "" "" "g.67190411A>G" "" "pathogenic" "ACMG" "0000831895" "1" "90" "15" "67482766" "67482775" "del" "0" "00006" "SMAD3_000137" "g.67482766_67482775del" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PVS1, PP3" "SUMMARY record" "" "" "0" "" "" "g.67190428_67190437del" "" "pathogenic" "ACMG" "0000831896" "1" "90" "15" "67482775" "67482775" "dup" "0" "00006" "SMAD3_000073" "g.67482775dup" "" "{PMID:Schepers 2018:29392890}" "" "c.1179_1180dupC" "ACMG PM2, PP3, PVS1" "SUMMARY record" "" "" "0" "" "" "g.67190437dup" "" "pathogenic" "ACMG" "0000831897" "1" "50" "15" "67482781" "67482781" "subst" "0" "00006" "SMAD3_000138" "g.67482781G>C" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2" "SUMMARY record" "" "" "0" "" "" "g.67190443G>C" "" "VUS" "ACMG" "0000831898" "1" "50" "15" "67482795" "67482795" "subst" "0" "00006" "SMAD3_000139" "g.67482795T>C" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2" "SUMMARY record" "" "" "0" "" "" "g.67190457T>C" "" "VUS" "ACMG" "0000831899" "1" "70" "15" "67482804" "67482804" "subst" "0" "00006" "SMAD3_000140" "g.67482804C>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PS2" "SUMMARY record" "" "" "0" "" "" "g.67190466C>T" "" "likely pathogenic" "ACMG" "0000831900" "1" "70" "15" "67482818" "67482818" "subst" "0" "00006" "SMAD3_000141" "g.67482818G>C" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PM5, PP3, PP2" "SUMMARY record" "" "" "0" "" "" "g.67190480G>C" "" "likely pathogenic" "ACMG" "0000831901" "1" "70" "15" "67482820" "67482820" "subst" "0" "00006" "SMAD3_000142" "g.67482820C>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PM5, PP2" "SUMMARY record" "" "" "0" "" "" "g.67190482C>A" "" "likely pathogenic" "ACMG" "0000831902" "1" "70" "15" "67482839" "67482839" "subst" "0" "00006" "SMAD3_000143" "g.67482839G>C" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PP1-M" "SUMMARY record" "" "" "0" "" "" "g.67190501G>C" "" "likely pathogenic" "ACMG" "0000831903" "1" "70" "15" "67482843" "67482843" "subst" "0" "00006" "SMAD3_000044" "g.67482843C>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PP1-M" "SUMMARY record" "" "" "0" "" "" "g.67190505C>T" "" "likely pathogenic" "ACMG" "0000831904" "1" "50" "15" "67482855" "67482855" "subst" "8.12612E-6" "00006" "SMAD3_000144" "g.67482855G>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PP3, PP2" "SUMMARY record" "" "" "0" "" "" "g.67190517G>A" "" "VUS" "ACMG" "0000831905" "1" "70" "15" "67482861" "67482861" "subst" "0" "00006" "SMAD3_000145" "g.67482861C>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PP1-S" "SUMMARY record" "" "" "0" "" "" "g.67190523C>T" "" "likely pathogenic" "ACMG" "0000831906" "1" "70" "15" "67482863" "67482863" "subst" "0" "00006" "SMAD3_000146" "g.67482863A>G" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PP1-M" "SUMMARY record" "" "" "0" "" "" "g.67190525A>G" "" "likely pathogenic" "ACMG" "0000831907" "1" "70" "15" "67482864" "67482864" "subst" "0" "00006" "SMAD3_000147" "g.67482864G>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PS2" "SUMMARY record" "" "" "0" "" "" "g.67190526G>A" "" "likely pathogenic" "ACMG" "0000831908" "1" "50" "15" "67482870" "67482870" "subst" "0" "00006" "SMAD3_000148" "g.67482870C>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2" "SUMMARY record" "" "" "0" "" "" "g.67190532C>T" "" "VUS" "ACMG" "0000831909" "1" "90" "15" "67408242" "67603013" "del" "0" "00006" "SMAD3_000097" "g.(?_67408242)_(67603013_?)del" "" "{PMID:Schepers 2018:29392890}" "" "del ex2-9" "ACMG PVS1, PP3, PM2" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000831910" "1" "90" "15" "67358195" "67487530" "del" "0" "00006" "SMAD3_000099" "g.(?_67358195)_(67487530_?)del" "" "{PMID:Schepers 2018:29392890}" "" "del entire gene" "ACMG PM2, PVS1, PP3" "SUMMARY record" "" "" "0" "" "" "g.(?_67065857)_(67195192_?)del" "" "pathogenic" "ACMG" "0000832110" "1" "90" "15" "67477181" "67477181" "subst" "0" "00006" "SMAD3_000130" "g.67477181A>G" "" "{PMID:Ye 2013:23585475}" "" "(Thr329Ala)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000832111" "1" "90" "15" "67462935" "67462935" "del" "0" "00006" "SMAD3_000149" "g.67462935del" "" "{PMID:Regalado 2011:21778426}" "" "562delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000832113" "1" "90" "15" "67473756" "67473756" "subst" "0" "00006" "SMAD3_000127" "g.67473756G>A" "" "{PMID:Regalado 2011:21778426}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832114" "1" "90" "15" "67473756" "67473756" "subst" "0" "00006" "SMAD3_000127" "g.67473756G>A" "" "{PMID:Regalado 2011:21778426}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000832115" "0" "90" "15" "67473635" "67473635" "subst" "0" "00006" "SMAD3_000121" "g.67473635G>A" "" "{PMID:Regalado 2011:21778426}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000832116" "1" "90" "15" "67457361" "67457361" "subst" "0" "00006" "SMAD3_000109" "g.67457361C>T" "" "{PMID:Regalado 2011:21778426}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000832156" "11" "70" "15" "67473723" "67473723" "subst" "0" "00006" "SMAD3_000043" "g.67473723G>A" "" "{PMID:Schubert 2016:26854089}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000832163" "1" "90" "15" "67473653" "67473653" "subst" "0" "00006" "SMAD3_000084" "g.67473653G>A" "" "{PMID:Aubert 2014:24804794}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.67181315G>A" "" "pathogenic" "" "0000832164" "1" "90" "15" "67473662" "67473662" "subst" "0" "00006" "SMAD3_000122" "g.67473662T>C" "" "{PMID:Aubert 2014:24804794}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.67181324T>C" "" "pathogenic" "" "0000832165" "1" "90" "15" "67473780" "67473780" "subst" "0" "00006" "SMAD3_000041" "g.67473780G>A" "" "{PMID:Aubert 2014:24804794}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.67181442G>A" "" "pathogenic" "" "0000832166" "1" "90" "15" "67473588" "67473588" "del" "0" "00006" "SMAD3_000120" "g.67473588del" "" "{PMID:Aubert 2014:24804794}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.67181250del" "" "pathogenic" "" "0000832167" "1" "90" "15" "67473782" "67473792" "dup" "0" "00006" "SMAD3_000128" "g.67473782_67473792dup" "" "{PMID:Aubert 2014:24804794}" "" "862_871+1dupAGACACATCGG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.67181444_67181454dup" "" "pathogenic" "" "0000832168" "1" "90" "15" "67479795" "67479795" "subst" "0" "00006" "SMAD3_000036" "g.67479795C>T" "" "{PMID:Aubert 2014:24804794}" "" "1102G>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.67187457C>T" "" "pathogenic" "" "0000832169" "1" "90" "15" "67482775" "67482775" "dup" "0" "00006" "SMAD3_000073" "g.67482775dup" "" "{PMID:Aubert 2014:24804794}" "" "1179_1180dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.67190437dup" "" "pathogenic" "" "0000832170" "1" "90" "15" "67482863" "67482863" "subst" "0" "00006" "SMAD3_000146" "g.67482863A>G" "" "{PMID:Aubert 2014:24804794}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.67190525A>G" "" "pathogenic" "" "0000832171" "0" "90" "15" "67459123" "67459123" "dup" "0" "00006" "SMAD3_000116" "g.67459123dup" "" "{PMID:Van de Laar 2012:22167769}" "" "539_540insC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.67166785dup" "" "pathogenic (dominant)" "" "0000854144" "0" "10" "15" "67394601" "67394606" "dup" "0" "02329" "SMAD3_000150" "g.67394601_67394606dup" "" "" "" "SMAD3(NM_005902.4):c.206+35900_206+35905dupGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863940" "0" "50" "15" "67479844" "67479844" "subst" "0" "01943" "SMAD3_000082" "g.67479844A>G" "" "" "" "SMAD3(NM_005902.3):c.1151A>G (p.Y384C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000880030" "21" "90" "15" "67457673" "67457673" "del" "0" "00006" "SMAD3_000151" "g.67457673del" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67165335del" "" "pathogenic" "" "0000880031" "0" "90" "15" "67457673" "67457673" "del" "0" "00006" "SMAD3_000151" "g.67457673del" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.67165335del" "" "pathogenic" "" "0000880032" "1" "90" "15" "67457673" "67457673" "del" "0" "00006" "SMAD3_000151" "g.67457673del" "" "{PMID:Almpani 2022:34916229}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67165335del" "" "pathogenic" "" "0000892217" "0" "30" "15" "67473586" "67473586" "subst" "0" "02329" "SMAD3_000152" "g.67473586G>A" "" "" "" "SMAD3(NM_005902.4):c.666G>A (p.Q222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892218" "0" "30" "15" "67473781" "67473781" "subst" "4.10985E-6" "02326" "SMAD3_000153" "g.67473781G>C" "" "" "" "SMAD3(NM_005902.3):c.861G>C (p.R287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892219" "0" "50" "15" "67477061" "67477061" "subst" "2.43742E-5" "02326" "SMAD3_000067" "g.67477061G>A" "" "" "" "SMAD3(NM_001145102.1):c.557-4G>A (p.?), SMAD3(NM_005902.3):c.872-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914346" "0" "30" "15" "67358594" "67358594" "subst" "1.63337E-5" "02329" "SMAD3_000154" "g.67358594G>T" "" "" "" "SMAD3(NM_005902.4):c.102G>T (p.A34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914347" "0" "90" "15" "67473779" "67473779" "subst" "0" "02329" "SMAD3_000028" "g.67473779C>T" "" "" "" "SMAD3(NM_005902.3):c.859C>T (p.R287W), SMAD3(NM_005902.4):c.859C>T (p.R287W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926019" "0" "30" "15" "67358734" "67358734" "subst" "0" "02329" "SMAD3_000155" "g.67358734C>T" "" "" "" "SMAD3(NM_005902.4):c.206+36C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930417" "0" "30" "15" "67457264" "67457264" "subst" "4.06157E-6" "02329" "SMAD3_000156" "g.67457264C>A" "" "" "" "SMAD3(NM_005902.4):c.238C>A (p.R80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930418" "0" "50" "15" "67473608" "67473608" "subst" "0" "02329" "SMAD3_000157" "g.67473608G>A" "" "" "" "SMAD3(NM_005902.4):c.688G>A (p.A230T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930419" "0" "50" "15" "67479469" "67479469" "subst" "0" "02325" "SMAD3_000158" "g.67479469G>A" "" "" "" "SMAD3(NM_005902.4):c.1010-234G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930420" "0" "70" "15" "67479810" "67479810" "subst" "0" "02327" "SMAD3_000095" "g.67479810C>T" "" "" "" "SMAD3(NM_005902.3):c.1117C>T (p.R373C), SMAD3(NM_005902.4):c.1117C>T (p.R373C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950413" "0" "10" "15" "67358558" "67358558" "subst" "0.00133197" "02329" "SMAD3_000159" "g.67358558G>A" "" "" "" "SMAD3(NM_005902.4):c.66G>A (p.E22=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950414" "0" "30" "15" "67457963" "67457963" "subst" "0" "02329" "SMAD3_000160" "g.67457963C>T" "" "" "" "SMAD3(NM_005902.4):c.532+241C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950415" "0" "50" "15" "67473668" "67473668" "subst" "0" "02327" "SMAD3_000026" "g.67473668G>A" "" "" "" "SMAD3(NM_005902.3):c.748G>A (p.A250T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967897" "0" "30" "15" "67457507" "67457507" "subst" "0" "02329" "SMAD3_000161" "g.67457507C>T" "" "" "" "SMAD3(NM_005902.4):c.400+81C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967898" "0" "50" "15" "67457630" "67457630" "subst" "3.24944E-5" "02329" "SMAD3_000018" "g.67457630C>T" "" "" "" "SMAD3(NM_005902.3):c.440C>T (p.P147L, p.(Pro147Leu)), SMAD3(NM_005902.4):c.440C>T (p.P147L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967899" "0" "70" "15" "67479810" "67479810" "subst" "0" "02329" "SMAD3_000095" "g.67479810C>T" "" "" "" "SMAD3(NM_005902.3):c.1117C>T (p.R373C), SMAD3(NM_005902.4):c.1117C>T (p.R373C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000967900" "0" "30" "15" "67480009" "67480009" "subst" "0" "02329" "SMAD3_000162" "g.67480009G>A" "" "" "" "SMAD3(NM_005902.4):c.1154+162G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967901" "0" "30" "15" "67480042" "67480042" "subst" "0" "02329" "SMAD3_000163" "g.67480042G>A" "" "" "" "SMAD3(NM_005902.4):c.1154+195G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967902" "0" "30" "15" "67482525" "67482525" "subst" "0" "02329" "SMAD3_000164" "g.67482525T>C" "" "" "" "SMAD3(NM_005902.4):c.1155-226T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981369" "0" "50" "15" "67457630" "67457630" "subst" "3.24944E-5" "01804" "SMAD3_000018" "g.67457630C>T" "" "" "" "SMAD3(NM_005902.3):c.440C>T (p.P147L, p.(Pro147Leu)), SMAD3(NM_005902.4):c.440C>T (p.P147L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981370" "0" "30" "15" "67462858" "67462858" "subst" "6.09389E-5" "02329" "SMAD3_000165" "g.67462858T>C" "" "" "" "SMAD3(NM_005902.4):c.608-34T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981371" "0" "30" "15" "67462996" "67462996" "subst" "0" "02329" "SMAD3_000166" "g.67462996G>A" "" "" "" "SMAD3(NM_005902.4):c.658+54G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981372" "0" "50" "15" "67479813" "67479813" "subst" "0" "01804" "SMAD3_000167" "g.67479813A>G" "" "" "" "SMAD3(NM_005902.4):c.1120A>G (p.(Met374Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001613" "0" "50" "15" "67430436" "67430436" "del" "0" "01804" "SMAD3_000093" "g.67430436del" "" "" "" "SMAD3(NM_001145103.1):c.72delG (p.(Arg25fs)), SMAD3(NM_001145103.1):c.72delG (p.R25Gfs*47)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001614" "0" "50" "15" "67459159" "67459159" "subst" "0" "01804" "SMAD3_000168" "g.67459159G>A" "" "" "" "SMAD3(NM_005902.3):c.575G>A (p.(Ser192Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001615" "0" "30" "15" "67479854" "67479854" "subst" "0" "02329" "SMAD3_000169" "g.67479854T>G" "" "" "" "SMAD3(NM_005902.4):c.1154+7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001022055" "0" "90" "15" "67457585" "67457585" "subst" "0" "04796" "SMAD3_000017" "g.67457585G>A" "" "" "" "" "effect on RNA inclusion of intron sequences" "Germline/De novo (untested)" "" "" "0" "" "" "g.67165247G>A" "" "pathogenic" "" "0001022217" "0" "50" "15" "67457431" "67457431" "subst" "1.21893E-5" "04796" "SMAD3_000076" "g.67457431G>T" "" "" "" "" "effect on RNA exon skipping" "Germline/De novo (untested)" "" "" "0" "" "" "g.67165093G>T" "" "VUS" "" "0001026484" "0" "90" "15" "67457272" "67457280" "dup" "0" "02329" "SMAD3_000170" "g.67457272_67457280dup" "" "" "" "SMAD3(NM_005902.4):c.246_254dupGCTCCCTCA (p.P84_H85insQLP)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026485" "0" "30" "15" "67473697" "67473697" "subst" "1.21919E-5" "02329" "SMAD3_000171" "g.67473697C>T" "" "" "" "SMAD3(NM_005902.4):c.777C>T (p.G259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026486" "0" "90" "15" "67479738" "67479738" "subst" "0" "02329" "SMAD3_000035" "g.67479738G>C" "" "" "" "SMAD3(NM_005902.3):c.1045G>C (p.A349P), SMAD3(NM_005902.4):c.1045G>C (p.A349P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001029523" "0" "70" "15" "67473635" "67473635" "subst" "0" "03779" "SMAD3_000121" "g.67473635G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs387906853" "0" "" "" "" "" "likely 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 SMAD3 ## Count = 251 "{{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}}" "0000149047" "00019406" "00" "7" "0" "7" "0" "c.7T>A" "r.(?)" "p.(Ser3Thr)" "" "0000149048" "00019406" "00" "316" "0" "316" "0" "c.316A>G" "r.(?)" "p.(Met106Val)" "" "0000149049" "00019406" "00" "341" "0" "341" "0" "c.341A>G" "r.(?)" "p.(Asn114Ser)" "" "0000149050" "00019406" "00" "391" "0" "391" "0" "c.391G>C" "r.(?)" "p.(Glu131Gln)" "" "0000149051" "00019406" "00" "636" "0" "636" "0" "c.636G>A" "r.(?)" "p.(Met212Ile)" "" "0000149052" "00019406" "00" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Ala215Thr)" "" "0000169338" "00019406" "00" "101" "0" "101" "0" "c.101C>T" "r.(?)" "p.(Ala34Val)" "" "0000247892" "00019406" "10" "309" "0" "309" "0" "c.309A>G" "r.(?)" "p.(Leu103=)" "" "0000249870" "00019406" "10" "309" "0" "309" "0" "c.309A>G" "r.(?)" "p.(Leu103=)" "" "0000250005" "00019406" "10" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Ile170Val)" "" "0000250501" "00019406" "70" "893" "0" "893" "0" "c.893A>G" "r.(?)" "p.(Tyr298Cys)" "" "0000250715" "00019406" "10" "1154" "23" "1154" "23" "c.1154+23A>C" "r.(=)" "p.(=)" "" "0000250865" "00019406" "10" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Ile170Val)" "" "0000253067" "00019406" "10" "1154" "23" "1154" "23" "c.1154+23A>C" "r.(=)" "p.(=)" "" "0000253094" "00019406" "10" "309" "0" "309" "0" "c.309A>G" "r.(?)" "p.(Leu103=)" "" "0000256565" "00019406" "50" "184" "0" "184" "0" "c.184A>C" "r.(?)" "p.(Thr62Pro)" "" "0000256644" "00019406" "50" "374" "0" "374" "0" "c.374A>C" "r.(?)" "p.(Tyr125Ser)" "" "0000299583" "00019406" "30" "1125" "0" "1125" "0" "c.1125C>T" "r.(?)" "p.(Ser375=)" "" "0000299584" "00019406" "30" "1128" "0" "1128" "0" "c.1128C>T" "r.(?)" "p.(Phe376=)" "" "0000299588" "00019406" "30" "659" "-12" "659" "-12" "c.659-12C>T" "r.(=)" "p.(=)" "" "0000299589" "00019406" "50" "728" "0" "728" "0" "c.728G>C" "r.(?)" "p.(Arg243Pro)" "" "0000299590" "00019406" "10" "870" "0" "870" "0" "c.870C>T" "r.(?)" "p.(Ile290=)" "" "0000299592" "00019406" "30" "872" "-19" "872" "-19" "c.872-19C>G" "r.(=)" "p.(=)" "" "0000299593" "00019406" "30" "9" "0" "9" "0" "c.9C>T" "r.(?)" "p.(Ser3=)" "" "0000302324" "00019406" "10" "870" "0" "870" "0" "c.870C>T" "r.(?)" "p.(Ile290=)" "" "0000308552" "00019406" "10" "-15" "0" "-15" "0" "c.-15G>A" "r.(?)" "p.(=)" "" "0000308553" "00019406" "10" "-23" "0" "-23" "0" "c.-23C>T" "r.(?)" "p.(=)" "" "0000308554" "00019406" "70" "1045" "0" "1045" "0" "c.1045G>C" "r.(?)" "p.(Ala349Pro)" "" "0000308555" "00019406" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368Ter)" "" "0000308557" "00019406" "10" "400" "59" "400" "59" "c.400+59G>C" "r.(=)" "p.(=)" "" "0000308558" "00019406" "90" "401" "-6" "401" "-6" "c.401-6G>A" "r.(=)" "p.(=)" "" "0000308559" "00019406" "30" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Pro147Leu)" "" "0000308560" "00019406" "30" "495" "0" "495" "0" "c.495C>A" "r.(?)" "p.(Asn165Lys)" "" "0000308561" "00019406" "10" "687" "0" "687" "0" "c.687G>A" "r.(?)" "p.(Pro229=)" "" "0000308562" "00019406" "50" "728" "0" "728" "0" "c.728G>C" "r.(?)" "p.(Arg243Pro)" "" "0000308563" "00019406" "90" "741" "0" "742" "0" "c.741_742del" "r.(?)" "p.(Phe248ProfsTer62)" "" "0000308564" "00019406" "50" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Ala250Thr)" "" "0000308565" "00019406" "70" "782" "0" "782" "0" "c.782C>T" "r.(?)" "p.(Thr261Ile)" "" "0000308566" "00019406" "70" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287Trp)" "" "0000308567" "00019406" "90" "861" "0" "861" "0" "c.861del" "r.(?)" "p.(Arg288AspfsTer53)" "" "0000308568" "00019406" "10" "870" "0" "870" "0" "c.870C>T" "r.(?)" "p.(Ile290=)" "" "0000308569" "00019406" "30" "984" "0" "984" "0" "c.984G>A" "r.(?)" "p.(Pro328=)" "" "0000405920" "00019406" "70" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Arg287Gln)" "6" "0000480118" "00019406" "90" "840" "0" "840" "0" "c.840T>G" "r.(?)" "p.(Asn280Lys)" "6" "0000484104" "00019406" "70" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Arg287Gln)" "" "0000499251" "00019406" "90" "1247" "0" "1247" "0" "c.1247C>T" "r.(1247c>u)" "p.(Ser416Phe)" "9" "0000499252" "00019406" "90" "1009" "1" "1009" "1" "c.1009+1G>A" "r.872_1009del" "p.Arg292_Gly337del" "7i" "0000499253" "00019406" "90" "803" "0" "803" "0" "c.803G>A" "r.(803g>a)" "p.(Arg268His)" "6" "0000499254" "00019406" "90" "862" "0" "871" "8" "c.862_871+8del" "r.spl" "p.?" "6_6i" "0000555221" "00019406" "70" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" "0000555222" "00019406" "50" "52" "0" "63" "0" "c.52_63del" "r.(?)" "p.(Trp18_Gly21del)" "" "0000555223" "00019406" "50" "61" "0" "61" "0" "c.61G>T" "r.(?)" "p.(Gly21Cys)" "" "0000555224" "00019406" "70" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Val77Met)" "" "0000555225" "00019406" "70" "238" "0" "238" "0" "c.238C>G" "r.(?)" "p.(Arg80Gly)" "" "0000555226" "00019406" "30" "316" "0" "316" "0" "c.316A>G" "r.(?)" "p.(Met106Val)" "" "0000555227" "00019406" "90" "391" "0" "394" "0" "c.391_394dup" "r.(?)" "p.(Thr132ArgfsTer35)" "" "0000555228" "00019406" "50" "394" "0" "394" "0" "c.394A>G" "r.(?)" "p.(Thr132Ala)" "" "0000555229" "00019406" "10" "400" "59" "400" "60" "c.400+59_400+60insC" "r.(=)" "p.(=)" "" "0000555230" "00019406" "30" "401" "-7" "401" "-7" "c.401-7C>T" "r.(=)" "p.(=)" "" "0000555231" "00019406" "50" "401" "0" "401" "0" "c.401T>C" "r.(?)" "p.(Val134Ala)" "" "0000555232" "00019406" "50" "401" "0" "401" "0" "c.401T>C" "r.(?)" "p.(Val134Ala)" "" "0000555233" "00019406" "90" "492" "0" "492" "0" "c.492dup" "r.(?)" "p.(Asn165Ter)" "" "0000555234" "00019406" "30" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Ile170Val)" "" "0000555235" "00019406" "30" "532" "10" "532" "15" "c.532+10_532+15dup" "r.(=)" "p.(=)" "" "0000555236" "00019406" "30" "533" "-79" "533" "-79" "c.533-79G>A" "r.(=)" "p.(=)" "" "0000555237" "00019406" "50" "657" "0" "657" "0" "c.657G>C" "r.(?)" "p.(Leu219Phe)" "" "0000555238" "00019406" "50" "785" "0" "785" "0" "c.785A>G" "r.(?)" "p.(Asp262Gly)" "" "0000555239" "00019406" "70" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Arg268Cys)" "" "0000555240" "00019406" "70" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Arg268Cys)" "" "0000555241" "00019406" "30" "870" "0" "870" "0" "c.870C>T" "r.(?)" "p.(Ile290=)" "" "0000555242" "00019406" "10" "871" "21" "871" "22" "c.871+21_871+22dup" "r.(=)" "p.(=)" "" "0000555243" "00019406" "10" "871" "22" "871" "23" "c.871+22_871+23insCCCCCCCCCCCCCCCCCCC" "r.(=)" "p.(=)" "" "0000555244" "00019406" "30" "871" "22" "871" "22" "c.871+22dup" "r.(=)" "p.(=)" "" "0000555245" "00019406" "30" "871" "23" "871" "23" "c.871+23G>C" "r.(=)" "p.(=)" "" "0000555246" "00019406" "30" "872" "-4" "872" "-4" "c.872-4G>A" "r.spl?" "p.?" "" "0000555247" "00019406" "70" "880" "0" "880" "0" "c.880G>A" "r.(?)" "p.(Val294Met)" "" "0000555248" "00019406" "30" "885" "0" "885" "0" "c.885G>A" "r.(?)" "p.(Arg295=)" "" "0000555249" "00019406" "30" "984" "0" "984" "0" "c.984G>C" "r.(?)" "p.(Pro328=)" "" "0000555250" "00019406" "90" "1010" "-2" "1010" "-2" "c.1010-2A>G" "r.spl?" "p.?" "" "0000555251" "00019406" "30" "1125" "0" "1125" "0" "c.1125C>T" "r.(?)" "p.(Ser375=)" "" "0000555252" "00019406" "70" "1155" "-3" "1155" "-3" "c.1155-3C>G" "r.spl?" "p.?" "" "0000555253" "00019406" "90" "1179" "0" "1179" "0" "c.1179dup" "r.(?)" "p.(Cys394LeufsTer4)" "" "0000600904" "00019406" "50" "206" "47777" "206" "47777" "c.206+47777G>A" "r.(=)" "p.(=)" "" "0000600905" "00019406" "50" "206" "6924" "206" "6924" "c.206+6924A>G" "r.(=)" "p.(=)" "" "0000615467" "00019406" "50" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Glu102Lys)" "" "0000615468" "00019406" "30" "316" "0" "316" "0" "c.316A>G" "r.(?)" "p.(Met106Val)" "" "0000615469" "00019406" "50" "394" "0" "394" "0" "c.394A>G" "r.(?)" "p.(Thr132Ala)" "" "0000615470" "00019406" "30" "400" "5" "400" "5" "c.400+5G>T" "r.spl?" "p.?" "" "0000615471" "00019406" "90" "401" "-6" "401" "-6" "c.401-6G>A" "r.(=)" "p.(=)" "" "0000615472" "00019406" "50" "443" "0" "443" "0" "c.443C>A" "r.(?)" "p.(Ala148Asp)" "" "0000615473" "00019406" "30" "444" "0" "444" "0" "c.444C>G" "r.(?)" "p.(Ala148=)" "" "0000615474" "00019406" "30" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Leu153=)" "" "0000615475" "00019406" "10" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Ile170Val)" "" "0000615476" "00019406" "30" "597" "0" "597" "0" "c.597C>T" "r.(?)" "p.(Ser199=)" "" "0000615477" "00019406" "70" "942" "0" "942" "0" "c.942T>G" "r.(?)" "p.(Phe314Leu)" "" "0000615478" "00019406" "50" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Tyr384Cys)" "" "0000649138" "00019406" "70" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93*)" "" "0000649139" "00019406" "50" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Gly245Arg)" "" "0000649140" "00019406" "50" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Pro263Leu)" "" "0000649141" "00019406" "30" "870" "0" "870" "0" "c.870C>T" "r.(=)" "p.(=)" "" "0000649142" "00019406" "30" "2121" "0" "2121" "0" "c.*843G>A" "r.(=)" "p.(=)" "" "0000657641" "00019406" "30" "658" "57" "658" "57" "c.658+57T>C" "r.(=)" "p.(=)" "" "0000657642" "00019406" "30" "871" "14" "871" "14" "c.871+14C>T" "r.(=)" "p.(=)" "" "0000657643" "00019406" "50" "1187" "0" "1187" "0" "c.1187T>C" "r.(?)" "p.(Ile396Thr)" "" "0000660205" "00019406" "50" "253" "0" "253" "0" "c.253C>G" "r.(?)" "p.(His85Asp)" "4" "0000669293" "00019406" "30" "870" "0" "870" "0" "c.870C>T" "r.(=)" "p.(=)" "" "0000669294" "00019406" "30" "2121" "0" "2121" "0" "c.*843G>A" "r.(=)" "p.(=)" "" "0000680265" "00019406" "30" "532" "14" "532" "14" "c.532+14C>T" "r.(=)" "p.(=)" "" "0000691841" "00019406" "50" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Glu102Lys)" "" "0000725268" "00019406" "30" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Leu153=)" "" "0000725269" "00019406" "30" "933" "0" "933" "0" "c.933C>T" "r.(?)" "p.(Ser311=)" "" "0000806878" "00019406" "90" "207" "-26797" "207" "-26797" "c.207-26797del" "r.(=)" "p.(=)" "" "0000806879" "00019406" "50" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" "" "0000806880" "00019406" "70" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Gly245Arg)" "" "0000806881" "00019406" "30" "984" "0" "984" "0" "c.984G>A" "r.(?)" "p.(Pro328=)" "" "0000806882" "00019406" "30" "984" "0" "984" "0" "c.984G>A" "r.(?)" "p.(Pro328=)" "" "0000806883" "00019406" "50" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000831232" "00019406" "90" "76" "0" "76" "0" "c.76C>T" "r.(?)" "p.(Gln26*)" "1" "0000831643" "00019406" "90" "659" "-1" "871" "1" "c.(658+1_659-1)_(871+1_872-1)del)" "r.(659_871del)" "p.(Asp220_Ile290del)" "5i_6i" "0000831655" "00019406" "90" "0" "0" "0" "0" "c.(?_207-48991)_*4656{0}" "r.0?" "p.0?" "" "0000831662" "00019406" "90" "0" "0" "0" "0" "c.(206+1_207-48991)_*4656{0}" "r.0?" "p.0?" "2i_9_" "0000831708" "00019406" "70" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" "0000831709" "00019406" "70" "391" "0" "394" "0" "c.391_394dup" "r.(?)" "p.(Thr132ArgfsTer35)" "" "0000831710" "00019406" "70" "492" "0" "492" "0" "c.492dup" "r.(?)" "p.(Asn165Ter)" "" "0000831711" "00019406" "70" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Arg268Cys)" "" "0000831712" "00019406" "70" "893" "0" "893" "0" "c.893A>G" "r.(?)" "p.(Tyr298Cys)" "" "0000831713" "00019406" "70" "1010" "-2" "1010" "-2" "c.1010-2A>G" "r.(?)" "p.?" "" "0000831714" "00019406" "90" "1179" "0" "1179" "0" "c.1179dup" "r.(?)" "p.(Cys394LeufsTer4)" "" "0000831796" "00019406" "50" "394" "0" "394" "0" "c.394A>G" "r.(?)" "p.(Thr132Ala)" "" "0000831797" "00019406" "50" "401" "0" "401" "0" "c.401T>C" "r.(?)" "p.(Val134Ala)" "" "0000831798" "00019406" "50" "785" "0" "785" "0" "c.785A>G" "r.(?)" "p.(Asp262Gly)" "" "0000831844" "00019406" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000831845" "00019406" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0000831846" "00019406" "70" "221" "0" "221" "0" "c.221G>A" "r.(?)" "p.(Arg74Gln)" "" "0000831847" "00019406" "90" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Cys89Tyr)" "" "0000831848" "00019406" "70" "269" "0" "269" "0" "c.269G>A" "r.(?)" "p.(Arg90His)" "" "0000831849" "00019406" "50" "281" "0" "281" "0" "c.281G>T" "r.(?)" "p.(Trp94Leu)" "" "0000831850" "00019406" "50" "290" "0" "290" "0" "c.290T>G" "r.(?)" "p.(Leu97Arg)" "" "0000831851" "00019406" "90" "300" "0" "301" "0" "c.300_301insAGGGCCGGCAGGC" "r.(?)" "p.(His101ArgfsTer14)" "" "0000831852" "00019406" "90" "313" "0" "313" "0" "c.313del" "r.(?)" "p.(Ala105ProfsTer11)" "" "0000831853" "00019406" "70" "335" "0" "335" "0" "c.335C>T" "r.(?)" "p.(Ala112Val)" "" "0000831854" "00019406" "50" "370" "0" "370" "0" "c.370C>A" "r.(?)" "p.(Pro124Thr)" "" "0000831855" "00019406" "70" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Tyr125Cys)" "" "0000831856" "00019406" "70" "374" "0" "374" "0" "c.374A>C" "r.(?)" "p.(Tyr125Ser)" "" "0000831857" "00019406" "90" "401" "-6" "401" "-6" "c.401-6G>A" "p.Val134Aspfs*33" "p.(Val134Aspfs*33)" "" "0000831858" "00019406" "90" "401" "0" "405" "0" "c.401_405dup" "r.(?)" "p.(Pro136PhefsTer52)" "" "0000831859" "00019406" "90" "455" "0" "455" "0" "c.455del" "r.(?)" "p.(Pro152HisfsTer34)" "" "0000831860" "00019406" "90" "511" "0" "511" "0" "c.511G>T" "r.(?)" "p.(Glu171Ter)" "" "0000831861" "00019406" "90" "532" "1" "532" "1" "c.532+1G>C" "r.spl" "p.?" "" "0000831862" "00019406" "90" "539" "0" "539" "0" "c.539dup" "r.(?)" "p.(Pro181ThrfsTer7)" "" "0000831863" "00019406" "90" "546" "0" "546" "0" "c.546del" "r.(?)" "p.(Gly183AlafsTer3)" "" "0000831864" "00019406" "90" "584" "0" "585" "0" "c.584_585insTC" "r.(?)" "p.(Gln195HisfsTer3)" "" "0000831865" "00019406" "90" "653" "0" "653" "0" "c.653del" "r.(?)" "p.(Asn218ThrfsTer23)" "" "0000831866" "00019406" "90" "668" "0" "668" "0" "c.668del" "r.(?)" "p.(Pro223GlnfsTer18)" "" "0000831867" "00019406" "90" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Glu239Lys)" "" "0000831868" "00019406" "70" "728" "0" "728" "0" "c.728G>C" "r.(?)" "p.(Arg243Pro)" "" "0000831869" "00019406" "70" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Gly245Arg)" "" "0000831870" "00019406" "90" "741" "0" "742" "0" "c.741_742del" "r.(?)" "p.(Phe248ProfsTer62)" "" "0000831871" "00019406" "70" "742" "0" "742" "0" "c.742T>C" "r.(?)" "p.(Phe248Leu)" "" "0000831872" "00019406" "70" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Ala250Thr)" "" "0000831873" "00019406" "90" "762" "0" "762" "0" "c.762del" "r.(?)" "p.(Met255Ter)" "" "0000831874" "00019406" "70" "772" "0" "772" "0" "c.772G>C" "r.(?)" "p.(Asp258His)" "" "0000831875" "00019406" "90" "782" "0" "782" "0" "c.782C>T" "r.(?)" "p.(Thr261Ile)" "" "0000831876" "00019406" "50" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Pro263Leu)" "" "0000831877" "00019406" "90" "797" "0" "797" "0" "c.797C>A" "r.(?)" "p.(Ser266Ter)" "" "0000831878" "00019406" "70" "803" "0" "803" "0" "c.803G>T" "r.(?)" "p.(Arg268Leu)" "" "0000831879" "00019406" "70" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Lys)" "" "0000831880" "00019406" "70" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287Trp)" "" "0000831881" "00019406" "70" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Arg287Gln)" "" "0000831882" "00019406" "90" "861" "0" "861" "0" "c.861del" "r.(?)" "p.(Arg288AspfsTer53)" "" "0000831883" "00019406" "90" "862" "0" "871" "1" "c.862_871+1dup" "p.(Arg292Aspfs*53)" "p.(Arg292Aspfs*53)" "" "0000831884" "00019406" "70" "887" "0" "887" "0" "c.887T>C" "r.(?)" "p.(Leu296Pro)" "" "0000831885" "00019406" "70" "988" "0" "988" "0" "c.988A>G" "r.(?)" "p.(Thr330Ala)" "" "0000831886" "00019406" "90" "1009" "1" "1009" "1" "c.1009+1G>A" "r.spl" "p.?" "" "0000831887" "00019406" "90" "1009" "2" "1009" "2" "c.1009+2T>A" "r.spl" "p.?" "" "0000831888" "00019406" "70" "1045" "0" "1045" "0" "c.1045G>C" "r.(?)" "p.(Ala349Pro)" "" "0000831889" "00019406" "90" "1080" "0" "1080" "0" "c.1080dup" "r.(?)" "p.(Glu361Ter)" "" "0000831890" "00019406" "90" "1081" "0" "1081" "0" "c.1081G>T" "r.(?)" "p.(Glu361Ter)" "" "0000831891" "00019406" "70" "1091" "0" "1091" "0" "c.1091A>G" "r.(?)" "p.(Tyr364Cys)" "" "0000831892" "00019406" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368Ter)" "" "0000831893" "00019406" "70" "1141" "0" "1141" "0" "c.1141G>C" "r.(?)" "p.(Gly381Arg)" "" "0000831894" "00019406" "90" "1155" "-2" "1155" "-2" "c.1155-2A>G" "r.spl" "p.?" "" "0000831895" "00019406" "90" "1170" "0" "1179" "0" "c.1170_1179del" "r.(?)" "p.(Ser391AlafsTer7)" "" "0000831896" "00019406" "90" "1179" "0" "1179" "0" "c.1179dup" "r.spl" "p.(Cys394Leufs*4)" "" "0000831897" "00019406" "50" "1185" "0" "1185" "0" "c.1185G>C" "r.(?)" "p.(Trp395Cys)" "" "0000831898" "00019406" "50" "1199" "0" "1199" "0" "c.1199T>C" "r.(?)" "p.(Leu400Pro)" "" "0000831899" "00019406" "70" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Pro403Leu)" "" "0000831900" "00019406" "70" "1222" "0" "1222" "0" "c.1222G>C" "r.(?)" "p.(Asp408His)" "" "0000831901" "00019406" "70" "1224" "0" "1224" "0" "c.1224C>A" "r.(?)" "p.(Asp408Glu)" "" "0000831902" "00019406" "70" "1243" "0" "1243" "0" "c.1243G>C" "r.(?)" "p.(Gly415Arg)" "" "0000831903" "00019406" "70" "1247" "0" "1247" "0" "c.1247C>T" "r.(?)" "p.(Ser416Phe)" "" "0000831904" "00019406" "50" "1259" "0" "1259" "0" "c.1259G>A" "r.(?)" "p.(Arg420His)" "" "0000831905" "00019406" "70" "1265" "0" "1265" "0" "c.1265C>T" "r.(?)" "p.(Ser422Phe)" "" "0000831906" "00019406" "70" "1267" "0" "1267" "0" "c.1267A>G" "r.(?)" "p.(Ser423Gly)" "" "0000831907" "00019406" "70" "1268" "0" "1268" "0" "c.1268G>A" "r.(?)" "p.(Ser423Asn)" "" "0000831908" "00019406" "50" "1274" "0" "1274" "0" "c.1274C>T" "r.(?)" "p.(Ser425Phe)" "" "0000831909" "00019406" "90" "" "0" "" "0" "c.(206+1_207-48991)_*4656{0}" "r.0" "p.0" "1i_9_" "0000831910" "00019406" "90" "" "0" "" "0" "c.-298_*4656{0}" "r.0" "p.0" "_1_9_" "0000832110" "00019406" "90" "988" "0" "988" "0" "c.988A>G" "r.(?)" "p.(Thr330Ala)" "" "0000832111" "00019406" "90" "651" "0" "651" "0" "c.651del" "r.(?)" "p.(Asn217Lysfs*24)" "" "0000832113" "00019406" "90" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Lys)" "" "0000832114" "00019406" "90" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Lys)" "" "0000832115" "00019406" "90" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Glu239Lys)" "" "0000832116" "00019406" "90" "335" "0" "335" "0" "c.335C>T" "r.(?)" "p.(Ala112Val)" "" "0000832156" "00019406" "70" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Arg268His)" "" "0000832163" "00019406" "70" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Gly245Arg)" "6" "0000832164" "00019406" "70" "742" "0" "742" "0" "c.742T>C" "r.(?)" "p.(Phe248Leu)" "6" "0000832165" "00019406" "70" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Arg287Gln)" "6" "0000832166" "00019406" "70" "668" "0" "668" "0" "c.668delC" "r.(?)" "p.(Pro223GlnfsTer18)" "6" "0000832167" "00019406" "70" "862" "0" "871" "1" "c.862_871+1dupAGACACATCGG" "r.(?)" "p.(Arg292Aspfs*53)" "6" "0000832168" "00019406" "70" "1102" "0" "1102" "0" "c.1102G>T" "r.(?)" "p.(Arg368Ter)" "8" "0000832169" "00019406" "50" "1179" "0" "1180" "0" "c.1179_1180dupC" "r.(?)" "p.(Cys394LeufsTer4)" "9" "0000832170" "00019406" "90" "1267" "0" "1267" "0" "c.1267A>G" "r.(?)" "p.(Ser423Gly)" "9" "0000832171" "00019406" "90" "539" "0" "539" "0" "c.539dup" "r.(?)" "p.(Pro181Thrfs*7)" "" "0000854144" "00019406" "10" "206" "35903" "206" "35908" "c.206+35903_206+35908dup" "r.(=)" "p.(=)" "" "0000863940" "00019406" "50" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Tyr384Cys)" "" "0000880030" "00019406" "90" "483" "0" "483" "0" "c.483del" "r.(?)" "p.(Glu162Lysfs*24)" "" "0000880031" "00019406" "90" "483" "0" "483" "0" "c.483del" "r.(?)" "p.(Glu162Lysfs*24)" "" "0000880032" "00019406" "90" "483" "0" "483" "0" "c.483del" "r.(?)" "p.(Glu162Lysfs*24)" "" "0000892217" "00019406" "30" "666" "0" "666" "0" "c.666G>A" "r.(?)" "p.(Gln222=)" "" "0000892218" "00019406" "30" "861" "0" "861" "0" "c.861G>C" "r.(?)" "p.(Arg287=)" "" "0000892219" "00019406" "50" "872" "-4" "872" "-4" "c.872-4G>A" "r.spl?" "p.?" "" "0000914346" "00019406" "30" "102" "0" "102" "0" "c.102G>T" "r.(?)" "p.(Ala34=)" "" "0000914347" "00019406" "90" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287Trp)" "" "0000926019" "00019406" "30" "206" "36" "206" "36" "c.206+36C>T" "r.(=)" "p.(=)" "" "0000930417" "00019406" "30" "238" "0" "238" "0" "c.238C>A" "r.(?)" "p.(=)" "" "0000930418" "00019406" "50" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Ala230Thr)" "" "0000930419" "00019406" "50" "1010" "-234" "1010" "-234" "c.1010-234G>A" "r.(=)" "p.(=)" "" "0000930420" "00019406" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000950413" "00019406" "10" "66" "0" "66" "0" "c.66G>A" "r.(?)" "p.(=)" "" "0000950414" "00019406" "30" "532" "241" "532" "241" "c.532+241C>T" "r.(=)" "p.(=)" "" "0000950415" "00019406" "50" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Ala250Thr)" "" "0000967897" "00019406" "30" "400" "81" "400" "81" "c.400+81C>T" "r.(=)" "p.(=)" "" "0000967898" "00019406" "50" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Pro147Leu)" "" "0000967899" "00019406" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000967900" "00019406" "30" "1154" "162" "1154" "162" "c.1154+162G>A" "r.(=)" "p.(=)" "" "0000967901" "00019406" "30" "1154" "195" "1154" "195" "c.1154+195G>A" "r.(=)" "p.(=)" "" "0000967902" "00019406" "30" "1155" "-226" "1155" "-226" "c.1155-226T>C" "r.(=)" "p.(=)" "" "0000981369" "00019406" "50" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Pro147Leu)" "" "0000981370" "00019406" "30" "608" "-34" "608" "-34" "c.608-34T>C" "r.(=)" "p.(=)" "" "0000981371" "00019406" "30" "658" "54" "658" "54" "c.658+54G>A" "r.(=)" "p.(=)" "" "0000981372" "00019406" "50" "1120" "0" "1120" "0" "c.1120A>G" "r.(?)" "p.(Met374Val)" "" "0001001613" "00019406" "50" "207" "-26797" "207" "-26797" "c.207-26797del" "r.(=)" "p.(=)" "" "0001001614" "00019406" "50" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Ser192Asn)" "" "0001001615" "00019406" "30" "1154" "7" "1154" "7" "c.1154+7T>G" "r.(=)" "p.(=)" "" "0001022055" "00019406" "90" "401" "-6" "401" "-6" "c.401-6G>A" "r.[400_401insACAG,=]" "p.[Val134AspfsTer33,=]" "2i" "0001022217" "00019406" "50" "400" "5" "400" "5" "c.400+5G>T" "r.[401_532del,=]" "p.Val134_Pro177del" "2i" "0001026484" "00019406" "90" "246" "0" "254" "0" "c.246_254dup" "r.(?)" "p.(Pro84_His85insGlnLeuPro)" "" "0001026485" "00019406" "30" "777" "0" "777" "0" "c.777C>T" "r.(?)" "p.(=)" "" "0001026486" "00019406" "90" "1045" "0" "1045" "0" "c.1045G>C" "r.(?)" "p.(Ala349Pro)" "" "0001029523" "00019406" "70" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Glu239Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 59 "{{screeningid}}" "{{variantid}}" "0000090918" "0000149047" "0000090919" "0000149048" "0000090920" "0000149049" "0000090921" "0000149050" "0000090922" "0000149051" "0000090923" "0000149052" "0000104482" "0000169338" "0000182098" "0000405920" "0000236416" "0000480118" "0000240106" "0000484104" "0000246526" "0000499251" "0000246527" "0000499252" "0000246528" "0000499253" "0000246529" "0000499254" "0000268227" "0000600904" "0000268228" "0000600905" "0000292449" "0000649138" "0000292450" "0000649139" "0000292451" "0000649140" "0000292452" "0000649141" "0000292453" "0000649142" "0000297601" "0000660205" "0000305605" "0000669293" "0000305606" "0000669294" "0000398930" "0000831232" "0000399285" "0000831643" "0000399300" "0000831655" "0000399305" "0000831662" "0000399347" "0000831708" "0000399348" "0000831709" "0000399349" "0000831710" "0000399350" "0000831711" "0000399351" "0000831712" "0000399352" "0000831713" "0000399353" "0000831714" "0000399435" "0000831796" "0000399436" "0000831797" "0000399437" "0000831798" "0000399555" "0000832110" "0000399557" "0000832111" "0000399558" "0000832113" "0000399559" "0000832114" "0000399560" "0000832115" "0000399561" "0000832116" "0000399578" "0000832156" "0000399581" "0000832163" "0000399582" "0000832164" "0000399583" "0000832165" "0000399584" "0000832166" "0000399585" "0000832167" "0000399586" "0000832168" "0000399587" "0000832169" "0000399588" "0000832170" "0000399589" "0000832171" "0000419858" "0000880030" "0000419859" "0000880031" "0000419860" "0000880032" "0000462528" "0001022055" "0000462690" "0001022217"