### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMAD2) # 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}}" "SMAD2" "SMAD family member 2" "18" "q21" "unknown" "NG_029946.1" "UD_134408215533" "" "https://www.LOVD.nl/SMAD2" "" "1" "6768" "4087" "601366" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SMAD2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-01-01 12:59:35" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024098" "SMAD2" "transcript variant 1" "003" "NM_005901.5" "" "NP_005892.1" "" "" "" "-292" "10136" "1404" "45456970" "45359466" "00006" "2016-01-18 11:31:51" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "05118" "-" "aneurysms, arterial" "" "" "" "" "" "00006" "2016-01-13 01:22:29" "" "" "05339" "CHTD" "disease, heart, congenital (CHTD)" "" "" "" "" "" "00006" "2017-11-05 11:35:27" "" "" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "06888" "LDS6" "Loeys-Dietz syndrome, type 6" "AD" "619656" "" "hypertelorism (HP:0000316); no bifid uvula (-HP:0000193)/no cleft palate (-HP:0000175); ; no retrognathia (-HP:0000278); scoliosis (HP:0002650); no club foot (-HP:0001762); osteoarthritis (HP:0002758); dural ectasia (HP:0100775); pneumothorax (HP:0002107); hernia (HP:0100790); no dissection at young age; arterial tortuosity (HP:0005116)" "" "00006" "2022-01-01 12:58:05" "00006" "2022-01-03 17:49:45" "06889" "CHTD8" "heart defects, congenital, multiple types, 8, with/without heterotaxy" "AD" "619657" "" "" "" "00006" "2022-01-01 12:59:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "SMAD2" "00884" "SMAD2" "05339" "SMAD2" "06888" "SMAD2" "06889" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00057164" "" "" "" "1" "" "01506" "{PMID:Micha 2016:26247899}" "" "F" "" "(Netherlands)" "" "0" "" "" "" "P1-1" "00057230" "" "" "" "1" "" "01506" "{PMID:Micha 2016:26247899}" "" "F" "?" "(Netherlands)" "" "0" "" "" "" "P2-1" "00057232" "" "" "" "2" "" "01506" "{PMID:Micha 2016:26247899}" "2-generation family, 2 affected sisters" "F" "-" "(Netherlands)" "" "0" "" "" "" "P3-1" "00090772" "" "" "" "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" "" "" "" "00303057" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat102" "00398190" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat135" "00398191" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat136" "00398238" "" "" "00057232" "1" "" "00006" "{PMID:Micha 2016:26247899}" "sister" "F" "" "(Netherlands)" "" "0" "" "" "" "P3-2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00057164" "05118" "00057230" "05118" "00057232" "05118" "00090772" "00091" "00303057" "05521" "00398190" "00198" "00398191" "00198" "00398238" "05118" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00091, 00198, 00884, 05118, 05339, 05521, 06888, 06889 ## Count = 7 "{{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}}" "0000043853" "00198" "00057164" "01506" "Unknown" "51y" "CT angiography detected aneurysms (HP:0002617, fusiform aneurysm left vertebral artery), likely post-dissection aneurysm (10mm), left internal carotid artery, aneurysm (11mm) left intracavernous carotid artery, bilateral dissection carotid artery in carotid canal; visible caliber changes left/right internal carotid artery and left vertebral artery; severe chronic obstructive pulmonary disease (HP:0006510), migraine (HP:0002076), coronary angiography (at 16y)" "" "47y" "transient ischaemic attacks (HP:0002326)" "" "" "" "" "" "" "" "" "LDS4" "" "" "0000043911" "05118" "00057230" "01506" "Unknown" "" "17y diagnosed possible Marfan syndrome; inguinal hernia (HP:0000023, 17y), hip dysplasia (HP:0001385, birth, treated), long face (HP:0000276), narrow face (HP:0000275), drooping eyelids (MP:0001344), high palate (HP:0000218), mild scoliosis (HP:0002650), asymmetric thorax, long narrow feet, pes planus (HP:0001763), aortic root dilatation 38mm (HP:0002616, 23y), aortic root dilatation 38mm (HP:0002616, 30y), dural ectasias, AV-node-re-entry tachycardia (HP:0001649)" "" "" "" "" "" "" "" "" "" "" "" "LDS4" "" "" "0000043912" "05118" "00057232" "01506" "Unknown" "54y" "46y-ascending aortic aneurysm (5.0 cm), downslanting palpebral fissures, high arched palate, knee osteoarthrosis, hip osteoarthrosis," "" "" "" "" "" "" "" "" "" "" "" "LDS4" "" "" "0000230140" "05521" "00303057" "00006" "Isolated (sporadic)" "" "Focal epilepsy, unclassified; age onset infantile" "" "" "" "" "" "" "" "" "" "" "" "" "seizures" "" "0000291300" "00198" "00398190" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291301" "00198" "00398191" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291349" "05118" "00398238" "00006" "Unknown" "59y" "no aortic dissection/rupture (HP:0031649); no aortic root aneurysm (HP:0002616); 59y-ascending aortic aneurysm (HP:0004970) (4.5 cm); no aortic tortuosity (HP:0006687); no arterial aneurysm; no arterial tortuosity (HP:0005116); no arterial dissection (HP:0005294); no hypertelorism (HP:0000316); no broad uvula (HP:0000193)/bifid uvula (HP:0000193)" "" "" "" "" "" "" "" "" "" "" "" "LDS4" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000057125" "00057164" "1" "01506" "01506" "2016-01-13 01:41:24" "" "" "SEQ" "DNA" "" "" "0000057193" "00057230" "1" "01506" "01506" "2016-01-20 08:07:25" "" "" "SEQ" "DNA" "" "" "0000057194" "00057232" "1" "01506" "01506" "2016-01-20 10:16:11" "" "" "SEQ" "DNA" "" "" "0000090917" "00090772" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000304182" "00303057" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000399433" "00398190" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399434" "00398191" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399482" "00398238" "1" "00006" "00006" "2022-01-02 11:42:23" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000057125" "SMAD2" "0000057193" "SMAD2" "0000057194" "SMAD2" "0000090917" "SMAD2" "0000304182" "SMAD2" "0000399433" "SMAD2" "0000399434" "SMAD2" "0000399482" "SMAD2" ## 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 = 64 "{{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}}" "0000087412" "0" "70" "18" "45368256" "45368256" "subst" "0" "01506" "SMAD2_000001" "g.45368256A>G" "" "{PMID:Micha 2016:26247899}" "" "" "" "Unknown" "?" "" "0" "" "" "g.47841885A>G" "" "likely pathogenic" "" "0000087483" "0" "70" "18" "45368233" "45368233" "subst" "0" "01506" "SMAD2_000002" "g.45368233C>T" "" "{PMID:Micha 2016:26247899}" "" "" "" "De novo" "?" "" "0" "" "" "g.47841862C>T" "" "likely pathogenic" "" "0000087484" "0" "70" "18" "45371828" "45371828" "subst" "4.0665E-6" "01506" "SMAD2_000003" "g.45371828T>C" "" "{PMID:Micha 2016:26247899}" "" "" "" "Germline" "?" "" "0" "" "" "g.47845457T>C" "" "likely pathogenic" "" "0000149046" "1" "50" "18" "45374924" "45374924" "subst" "0" "01816" "SMAD2_000004" "g.45374924T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.47848553T>C" "" "VUS" "" "0000250237" "0" "10" "18" "45371695" "45371695" "subst" "0.0222652" "02329" "SMAD2_000011" "g.45371695A>G" "" "" "" "SMAD2(NM_001003652.4):c.1280+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47845324A>G" "" "benign" "" "0000299579" "0" "30" "18" "45371746" "45371746" "subst" "7.32261E-5" "02329" "SMAD2_000005" "g.45371746T>C" "" "" "" "SMAD2(NM_001003652.4):c.1245A>G (p.R415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47845375T>C" "" "likely benign" "" "0000299581" "0" "30" "18" "45391470" "45391470" "subst" "0" "02329" "SMAD2_000008" "g.45391470T>A" "" "" "" "SMAD2(NM_001003652.4):c.690A>T (p.G230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47865099T>A" "" "likely benign" "" "0000308551" "0" "30" "18" "45391449" "45391449" "subst" "8.13809E-6" "01943" "SMAD2_000007" "g.45391449C>G" "" "" "" "SMAD2(NM_001003652.3):c.711G>C (p.L237F), SMAD2(NM_001003652.4):c.711G>C (p.L237F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47865078C>G" "" "likely benign" "" "0000338126" "0" "50" "18" "45396947" "45396947" "subst" "0" "02327" "SMAD2_000010" "g.45396947T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47870576T>C" "" "VUS" "" "0000564929" "0" "10" "18" "45374828" "45374828" "subst" "0.00136619" "02329" "SMAD2_000012" "g.45374828A>C" "" "" "" "SMAD2(NM_001003652.4):c.997+18T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47848457A>C" "" "benign" "" "0000564930" "0" "10" "18" "45375015" "45375015" "subst" "0.00451293" "02329" "SMAD2_000013" "g.45375015C>T" "" "" "" "SMAD2(NM_001003652.4):c.828G>A (p.S276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47848644C>T" "" "benign" "" "0000564931" "0" "10" "18" "45391419" "45391419" "subst" "0.00230617" "02329" "SMAD2_000014" "g.45391419A>T" "" "" "" "SMAD2(NM_001003652.4):c.730+11T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47865048A>T" "" "benign" "" "0000564932" "0" "10" "18" "45391427" "45391427" "dup" "0" "02329" "SMAD2_000015" "g.45391427dup" "" "" "" "SMAD2(NM_001003652.4):c.730+10dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47865056dup" "" "benign" "" "0000564933" "0" "50" "18" "45391449" "45391449" "subst" "8.13809E-6" "02329" "SMAD2_000007" "g.45391449C>G" "" "" "" "SMAD2(NM_001003652.3):c.711G>C (p.L237F), SMAD2(NM_001003652.4):c.711G>C (p.L237F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47865078C>G" "" "VUS" "" "0000564934" "0" "70" "18" "45394737" "45394737" "dup" "0" "02329" "SMAD2_000016" "g.45394737dup" "" "" "" "SMAD2(NM_001003652.4):c.612dupT (p.N205*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47868366dup" "" "likely pathogenic" "" "0000564935" "0" "10" "18" "45394846" "45394846" "del" "0" "02329" "SMAD2_000017" "g.45394846del" "" "" "" "SMAD2(NM_001003652.4):c.521-16delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47868475del" "" "benign" "" "0000564936" "0" "30" "18" "45394870" "45394870" "subst" "0" "02329" "SMAD2_000018" "g.45394870A>G" "" "" "" "SMAD2(NM_001003652.4):c.521-42T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47868499A>G" "" "likely benign" "" "0000564938" "0" "50" "18" "45395686" "45395686" "subst" "4.06851E-6" "02329" "SMAD2_000020" "g.45395686C>T" "" "" "" "SMAD2(NM_001003652.4):c.448G>A (p.E150K), SMAD2(NM_005901.6):c.448G>A (p.E150K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47869315C>T" "" "VUS" "" "0000564939" "0" "50" "18" "45395698" "45395698" "subst" "0" "01943" "SMAD2_000021" "g.45395698T>C" "" "" "" "SMAD2(NM_001003652.3):c.436A>G (p.I146V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47869327T>C" "" "VUS" "" "0000564940" "0" "30" "18" "45422966" "45422966" "subst" "2.03042E-5" "01943" "SMAD2_000022" "g.45422966T>C" "" "" "" "SMAD2(NM_001003652.3):c.162A>G (p.K54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47896595T>C" "" "likely benign" "" "0000617184" "0" "30" "18" "45371865" "45371865" "subst" "2.44365E-5" "02327" "SMAD2_000023" "g.45371865A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47845494A>G" "" "likely benign" "" "0000617185" "0" "50" "18" "45395697" "45395697" "subst" "0" "02327" "SMAD2_000024" "g.45395697A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47869326A>G" "" "VUS" "" "0000617186" "0" "50" "18" "45422958" "45422958" "subst" "0" "02327" "SMAD2_000025" "g.45422958C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47896587C>T" "" "VUS" "" "0000658387" "0" "50" "18" "45395766" "45395766" "subst" "0" "01804" "SMAD2_000026" "g.45395766A>C" "" "" "" "SMAD2(NM_001003652.3):c.368T>G (p.(Leu123Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47869395A>C" "" "VUS" "" "0000667580" "0" "90" "18" "45374908" "45374908" "subst" "0" "00006" "SMAD2_000027" "g.45374908C>G" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.47848537C>G" "" "pathogenic (dominant)" "ACMG" "0000726899" "0" "30" "18" "45377868" "45377868" "subst" "0" "02329" "SMAD2_000028" "g.45377868C>G" "" "" "" "SMAD2(NM_001003652.4):c.731-170G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726900" "0" "30" "18" "45422482" "45422482" "subst" "0" "02329" "SMAD2_000029" "g.45422482C>T" "" "" "" "SMAD2(NM_001003652.4):c.236+410G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808502" "0" "30" "18" "45375054" "45375054" "subst" "0.000318958" "02326" "SMAD2_000030" "g.45375054T>C" "" "" "" "SMAD2(NM_005901.6):c.789A>G (p.L263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808503" "0" "30" "18" "45391623" "45391623" "subst" "0" "02329" "SMAD2_000031" "g.45391623T>C" "" "" "" "SMAD2(NM_001003652.4):c.656-119A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000831794" "0" "50" "18" "45395686" "45395686" "subst" "4.06851E-6" "00006" "SMAD2_000020" "g.45395686C>T" "" "{PMID:Overwater 2018:29907982}" "" "" "somatic mosaicism; incomplete penetrance?" "Somatic" "" "" "0" "" "" "g.47869315C>T" "" "VUS (!)" "" "0000831795" "1" "50" "18" "45391449" "45391449" "subst" "8.13809E-6" "00006" "SMAD2_000007" "g.45391449C>G" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.47865078C>G" "" "VUS" "" "0000831837" "1" "70" "18" "45374889" "45374889" "subst" "0" "00006" "SMAD2_000035" "g.45374889A>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PP1-M" "SUMMARY record" "" "" "0" "" "" "g.47848518A>T" "" "likely pathogenic" "ACMG" "0000831838" "1" "70" "18" "45372087" "45372087" "subst" "0" "00006" "SMAD2_000034" "g.45372087T>G" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PP1-M" "SUMMARY record" "" "" "0" "" "" "g.47845716T>G" "" "likely pathogenic" "ACMG" "0000831839" "1" "70" "18" "45371828" "45371828" "subst" "4.0665E-6" "00006" "SMAD2_000003" "g.45371828T>C" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PP3, PS3, PP2" "SUMMARY record" "" "" "0" "" "" "g.47845457T>C" "" "likely pathogenic" "ACMG" "0000831840" "1" "70" "18" "45371801" "45371801" "subst" "0" "00006" "SMAD2_000033" "g.45371801G>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PP1-S" "SUMMARY record" "" "" "0" "" "" "g.47845430G>T" "" "likely pathogenic" "ACMG" "0000831841" "1" "70" "18" "45368256" "45368256" "subst" "0" "00006" "SMAD2_000001" "g.45368256A>G" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PP1-M" "SUMMARY record" "" "" "0" "" "" "g.47841885A>G" "" "likely pathogenic" "ACMG" "0000831842" "1" "70" "18" "45368233" "45368233" "subst" "0" "00006" "SMAD2_000002" "g.45368233C>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PS2" "SUMMARY record" "" "" "0" "" "" "g.47841862C>T" "" "likely pathogenic" "ACMG" "0000831843" "1" "50" "18" "45368202" "45368202" "subst" "0" "00006" "SMAD2_000032" "g.45368202G>A" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2" "SUMMARY record" "" "" "0" "" "" "g.47841831G>A" "" "VUS" "ACMG" "0000831997" "0" "70" "18" "45371828" "45371828" "subst" "4.0665E-6" "00006" "SMAD2_000003" "g.45371828T>C" "" "{PMID:Micha 2016:26247899}" "" "" "" "Germline" "" "" "0" "" "" "g.47845457T>C" "" "likely pathogenic" "" "0000855315" "0" "10" "18" "45375879" "45375880" "del" "0" "02329" "SMAD2_000037" "g.45375879_45375880del" "" "" "" "SMAD2(NM_001003652.4):c.785-802_785-801delTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865702" "0" "30" "18" "45368315" "45368315" "subst" "8.16593E-6" "01943" "SMAD2_000036" "g.45368315C>T" "" "" "" "SMAD2(NM_001003652.3):c.1287G>A (p.Q429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894575" "0" "30" "18" "45391427" "45391427" "del" "0" "02329" "SMAD2_000038" "g.45391427del" "" "" "" "SMAD2(NM_001003652.4):c.730+10delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926753" "0" "30" "18" "45372125" "45372125" "subst" "8.12704E-6" "02329" "SMAD2_000039" "g.45372125C>T" "" "" "" "SMAD2(NM_001003652.4):c.1044G>A (p.E348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926754" "0" "30" "18" "45375082" "45375082" "dup" "0" "02329" "SMAD2_000040" "g.45375082dup" "" "" "" "SMAD2(NM_001003652.4):c.785-18dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926755" "0" "30" "18" "45375105" "45375105" "subst" "0" "02329" "SMAD2_000041" "g.45375105A>T" "" "" "" "SMAD2(NM_001003652.4):c.785-47T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926756" "0" "50" "18" "45423118" "45423118" "subst" "0" "02329" "SMAD2_000042" "g.45423118T>C" "" "" "" "SMAD2(NM_001003652.4):c.10A>G (p.I4V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930962" "0" "50" "18" "45375053" "45375053" "subst" "0" "02327" "SMAD2_000043" "g.45375053G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951138" "0" "30" "18" "45375317" "45375317" "subst" "0" "02329" "SMAD2_000044" "g.45375317G>A" "" "" "" "SMAD2(NM_001003652.4):c.785-259C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951139" "0" "30" "18" "45394858" "45394858" "subst" "4.12538E-5" "02329" "SMAD2_000045" "g.45394858G>A" "" "" "" "SMAD2(NM_001003652.4):c.521-30C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969417" "0" "30" "18" "45372189" "45372189" "subst" "0.000358035" "02329" "SMAD2_000046" "g.45372189T>C" "" "" "" "SMAD2(NM_001003652.4):c.998-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969418" "0" "30" "18" "45377400" "45377400" "subst" "0" "02329" "SMAD2_000047" "g.45377400A>G" "" "" "" "SMAD2(NM_001003652.4):c.784+245T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969419" "0" "30" "18" "45377495" "45377495" "subst" "0" "02329" "SMAD2_000048" "g.45377495A>G" "" "" "" "SMAD2(NM_001003652.4):c.784+150T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969420" "0" "30" "18" "45395741" "45395741" "subst" "4.06798E-6" "02329" "SMAD2_000049" "g.45395741T>C" "" "" "" "SMAD2(NM_001003652.4):c.393A>G (p.L131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969421" "0" "30" "18" "45423300" "45423300" "subst" "0" "02329" "SMAD2_000050" "g.45423300T>C" "" "" "" "SMAD2(NM_001003652.4):c.-53-120A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983051" "0" "50" "18" "45391440" "45391440" "subst" "0" "01804" "SMAD2_000051" "g.45391440A>T" "" "" "" "SMAD2(NM_005901.6):c.720T>A (p.(Ser240Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004143" "0" "30" "18" "45375080" "45375082" "del" "0" "02329" "SMAD2_000052" "g.45375080_45375082del" "" "" "" "SMAD2(NM_001003652.4):c.785-20_785-18delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004144" "0" "50" "18" "45394790" "45394790" "subst" "0" "02329" "SMAD2_000053" "g.45394790G>T" "" "" "" "SMAD2(NM_001003652.4):c.559C>A (p.L187I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004145" "0" "30" "18" "45395468" "45395468" "subst" "0" "02329" "SMAD2_000054" "g.45395468T>A" "" "" "" "SMAD2(NM_001003652.4):c.520+146A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027121" "0" "30" "18" "45375075" "45375075" "subst" "0" "02329" "SMAD2_000055" "g.45375075T>G" "" "" "" "SMAD2(NM_001003652.4):c.785-17A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042443" "0" "50" "18" "45377675" "45377677" "del" "0" "01804" "SMAD2_000056" "g.45377675_45377677del" "" "" "" "SMAD2(NM_005901.6):c.757_759del (p.(Thr253del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042444" "0" "50" "18" "45395686" "45395686" "subst" "4.06851E-6" "02325" "SMAD2_000020" "g.45395686C>T" "" "" "" "SMAD2(NM_001003652.4):c.448G>A (p.E150K), SMAD2(NM_005901.6):c.448G>A (p.E150K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042445" "0" "50" "18" "45395809" "45395809" "subst" "0" "01804" "SMAD2_000057" "g.45395809T>A" "" "" "" "SMAD2(NM_005901.6):c.327-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042446" "0" "30" "18" "45396940" "45396940" "subst" "0" "01804" "SMAD2_000058" "g.45396940G>A" "" "" "" "SMAD2(NM_005901.6):c.237-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046707" "0" "50" "18" "45371712" "45371712" "subst" "0" "02325" "SMAD2_000059" "g.45371712G>A" "" "" "" "SMAD2(NM_005901.6):c.1279C>T (p.R427*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 SMAD2 ## Count = 64 "{{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}}" "0000087412" "00024098" "70" "1346" "0" "1346" "0" "c.1346T>C" "r.(?)" "p.(Leu449Ser)" "11" "0000087483" "00024098" "70" "1369" "0" "1369" "0" "c.1369G>A" "r.(?)" "p.(Gly457Arg)" "11" "0000087484" "00024098" "70" "1163" "0" "1163" "0" "c.1163A>G" "r.(?)" "p.(Gln388Arg)" "10" "0000149046" "00024098" "00" "919" "0" "919" "0" "c.919A>G" "r.(?)" "p.(Asn307Asp)" "" "0000250237" "00024098" "10" "1280" "16" "1280" "16" "c.1280+16T>C" "r.(=)" "p.(=)" "" "0000299579" "00024098" "30" "1245" "0" "1245" "0" "c.1245A>G" "r.(?)" "p.(Arg415=)" "" "0000299581" "00024098" "30" "690" "0" "690" "0" "c.690A>T" "r.(?)" "p.(Gly230=)" "" "0000308551" "00024098" "30" "711" "0" "711" "0" "c.711G>C" "r.(?)" "p.(Leu237Phe)" "" "0000338126" "00024098" "50" "237" "-12" "237" "-12" "c.237-12A>G" "r.(=)" "p.(=)" "" "0000564929" "00024098" "10" "997" "18" "997" "18" "c.997+18T>G" "r.(=)" "p.(=)" "" "0000564930" "00024098" "10" "828" "0" "828" "0" "c.828G>A" "r.(?)" "p.(Ser276=)" "" "0000564931" "00024098" "10" "730" "11" "730" "11" "c.730+11T>A" "r.(=)" "p.(=)" "" "0000564932" "00024098" "10" "730" "10" "730" "10" "c.730+10dup" "r.(=)" "p.(=)" "" "0000564933" "00024098" "50" "711" "0" "711" "0" "c.711G>C" "r.(?)" "p.(Leu237Phe)" "" "0000564934" "00024098" "70" "612" "0" "612" "0" "c.612dup" "r.(?)" "p.(Asn205Ter)" "" "0000564935" "00024098" "10" "521" "-16" "521" "-16" "c.521-16del" "r.(=)" "p.(=)" "" "0000564936" "00024098" "30" "521" "-42" "521" "-42" "c.521-42T>C" "r.(=)" "p.(=)" "" "0000564938" "00024098" "50" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Glu150Lys)" "" "0000564939" "00024098" "50" "436" "0" "436" "0" "c.436A>G" "r.(?)" "p.(Ile146Val)" "" "0000564940" "00024098" "30" "162" "0" "162" "0" "c.162A>G" "r.(?)" "p.(Lys54=)" "" "0000617184" "00024098" "30" "1136" "-10" "1136" "-10" "c.1136-10T>C" "r.(=)" "p.(=)" "" "0000617185" "00024098" "50" "437" "0" "437" "0" "c.437T>C" "r.(?)" "p.(Ile146Thr)" "" "0000617186" "00024098" "50" "170" "0" "170" "0" "c.170G>A" "r.(?)" "p.(Arg57Gln)" "" "0000658387" "00024098" "50" "368" "0" "368" "0" "c.368T>G" "r.(?)" "p.(Leu123Trp)" "" "0000667580" "00024098" "90" "935" "0" "935" "0" "c.935G>C" "r.(?)" "p.(Cys312Ser)" "" "0000726899" "00024098" "30" "731" "-170" "731" "-170" "c.731-170G>C" "r.(=)" "p.(=)" "" "0000726900" "00024098" "30" "236" "410" "236" "410" "c.236+410G>A" "r.(=)" "p.(=)" "" "0000808502" "00024098" "30" "789" "0" "789" "0" "c.789A>G" "r.(?)" "p.(Leu263=)" "" "0000808503" "00024098" "30" "656" "-119" "656" "-119" "c.656-119A>G" "r.(=)" "p.(=)" "" "0000831794" "00024098" "50" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Glu150Lys)" "" "0000831795" "00024098" "50" "711" "0" "711" "0" "c.711G>C" "r.(?)" "p.(Leu237Phe)" "" "0000831837" "00024098" "70" "954" "0" "954" "0" "c.954T>A" "r.(?)" "p.(Asn318Lys)" "" "0000831838" "00024098" "70" "1082" "0" "1082" "0" "c.1082A>C" "r.(?)" "p.(Asn361Thr)" "" "0000831839" "00024098" "70" "1163" "0" "1163" "0" "c.1163A>G" "r.(?)" "p.(Gln388Arg)" "" "0000831840" "00024098" "70" "1190" "0" "1190" "0" "c.1190C>A" "r.(?)" "p.(Ser397Tyr)" "" "0000831841" "00024098" "70" "1346" "0" "1346" "0" "c.1346T>C" "r.(?)" "p.(Leu449Ser)" "" "0000831842" "00024098" "70" "1369" "0" "1369" "0" "c.1369G>A" "r.(?)" "p.(Gly457Arg)" "" "0000831843" "00024098" "50" "1400" "0" "1400" "0" "c.1400C>T" "r.(?)" "p.(Ser467Leu)" "" "0000831997" "00024098" "70" "1163" "0" "1163" "0" "c.1163A>G" "r.(?)" "p.(Gln388Arg)" "10" "0000855315" "00024098" "10" "785" "-802" "785" "-801" "c.785-802_785-801del" "r.(=)" "p.(=)" "" "0000865702" "00024098" "30" "1287" "0" "1287" "0" "c.1287G>A" "r.(?)" "p.(Gln429=)" "" "0000894575" "00024098" "30" "730" "10" "730" "10" "c.730+10del" "r.(=)" "p.(=)" "" "0000926753" "00024098" "30" "1044" "0" "1044" "0" "c.1044G>A" "r.(?)" "p.(Glu348=)" "" "0000926754" "00024098" "30" "785" "-18" "785" "-18" "c.785-18dup" "r.(=)" "p.(=)" "" "0000926755" "00024098" "30" "785" "-47" "785" "-47" "c.785-47T>A" "r.(=)" "p.(=)" "" "0000926756" "00024098" "50" "10" "0" "10" "0" "c.10A>G" "r.(?)" "p.(Ile4Val)" "" "0000930962" "00024098" "50" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Gln264*)" "" "0000951138" "00024098" "30" "785" "-259" "785" "-259" "c.785-259C>T" "r.(=)" "p.(=)" "" "0000951139" "00024098" "30" "521" "-30" "521" "-30" "c.521-30C>T" "r.(=)" "p.(=)" "" "0000969417" "00024098" "30" "998" "-18" "998" "-18" "c.998-18A>G" "r.(=)" "p.(=)" "" "0000969418" "00024098" "30" "784" "245" "784" "245" "c.784+245T>C" "r.(=)" "p.(=)" "" "0000969419" "00024098" "30" "784" "150" "784" "150" "c.784+150T>C" "r.(=)" "p.(=)" "" "0000969420" "00024098" "30" "393" "0" "393" "0" "c.393A>G" "r.(?)" "p.(=)" "" "0000969421" "00024098" "30" "-53" "-120" "-53" "-120" "c.-53-120A>G" "r.(=)" "p.(=)" "" "0000983051" "00024098" "50" "720" "0" "720" "0" "c.720T>A" "r.(?)" "p.(Ser240Arg)" "" "0001004143" "00024098" "30" "785" "-20" "785" "-18" "c.785-20_785-18del" "r.(=)" "p.(=)" "" "0001004144" "00024098" "50" "559" "0" "559" "0" "c.559C>A" "r.(?)" "p.(Leu187Ile)" "" "0001004145" "00024098" "30" "520" "146" "520" "146" "c.520+146A>T" "r.(=)" "p.(=)" "" "0001027121" "00024098" "30" "785" "-17" "785" "-17" "c.785-17A>C" "r.(=)" "p.(=)" "" "0001042443" "00024098" "50" "757" "0" "759" "0" "c.757_759del" "r.(?)" "p.(Thr253del)" "" "0001042444" "00024098" "50" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Glu150Lys)" "" "0001042445" "00024098" "50" "327" "-2" "327" "-2" "c.327-2A>T" "r.spl?" "p.?" "" "0001042446" "00024098" "30" "237" "-5" "237" "-5" "c.237-5C>T" "r.spl?" "p.?" "" "0001046707" "00024098" "50" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000057125" "0000087412" "0000057193" "0000087483" "0000057194" "0000087484" "0000090917" "0000149046" "0000304182" "0000667580" "0000399433" "0000831794" "0000399434" "0000831795" "0000399482" "0000831997"