### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BMPR2) # 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}}" "BMPR2" "bone morphogenetic protein receptor, type II (serine/threonine kinase)" "2" "q33-q34" "unknown" "NG_009363.1" "UD_132084507728" "" "http://www.LOVD.nl/BMPR2" "" "1" "1078" "659" "600799" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/BMPR2_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2016-10-14 13:02:16" "00006" "2025-11-19 08:42:40" ## 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}}" "00000022" "BMPR2" "bone morphogenetic protein receptor, type II (serine/threonine kinase)" "001" "NM_001204.6" "" "NP_001195.2" "" "" "" "-1148" "10922" "3117" "203241050" "203432474" "00002" "2012-05-11 13:11:51" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01537" "PPH1" "hypertension, pulmonary, primary, type 1 (PPH1)" "AD" "178600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-01-11 15:43:50" "02039" "PVOD1" "pulmonary veno-occlusive disease, type 1 (POVD1)" "AD" "265450" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-01-11 15:43:04" "03897" "PPH2" "hypertension, pulmonary, primary, type 2 (PPH-2)" "AD" "615342" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05155" "OPLL" "ossification, posterior longitudinal ligament spine (OPLL)" "" "" "" "" "" "00006" "2016-04-14 16:02:41" "" "" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "BMPR2" "01537" "BMPR2" "02039" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00000015" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000068" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00081436" "" "" "" "1" "" "01783" "" "" "" "" "China" "" "0" "" "" "Han" "" "00103745" "" "" "" "1" "" "01602" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "M" "" "Switzerland" "24y" "0" "" "" "Europe" "SUDS024" "00265646" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00292545" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292546" "" "" "" "36" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00326440" "" "" "" "1" "" "00006" "{PMID:Wang 2018:30120215}" "" "" "" "China" "" "0" "" "" "" "AVM511" "00326441" "" "" "" "1" "" "00006" "{PMID:Wang 2018:30120215}" "" "" "" "China" "" "0" "" "" "" "AVM199" "00326442" "" "" "" "1" "" "00006" "{PMID:Wang 2018:30120215}" "" "" "" "China" "" "0" "" "" "" "AVM401" "00326443" "" "" "" "1" "" "00006" "{PMID:Wang 2018:30120215}" "" "" "" "China" "" "0" "" "" "" "AVM235" "00358926" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "176746" "00397666" "" "" "" "1" "" "04141" "{PMID:Xi 2016:26820968}" "" "?" "?" "China" "" "0" "" "" "Chinese Han" "Pat285" "00469541" "" "" "" "1" "" "03256" "{DOI:Chi 2018:10.1097/MD.0000000000012695}" "" "M" "no" "China" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00000015" "00138" "00000015" "05378" "00081436" "05155" "00103745" "05166" "00292545" "00198" "00292546" "00198" "00326440" "00198" "00326441" "00198" "00326442" "00198" "00326443" "00198" "00358926" "01537" "00397666" "03897" "00469541" "05292" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00198, 01537, 02039, 03897, 05155, 05166, 05292, 05378 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000061038" "05155" "00081436" "01783" "Unknown" "" "thoracic ossification of the ligamentum flavum;\r\nlong regional at the thoracic spine" "" "" "" "" "" "" "" "" "" "" "" "0000081681" "05166" "00103745" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "0000203433" "00198" "00265646" "01164" "Unknown" "" "Vitreous hemorrhage (HP:0007902); Pulmonary hypertension (HP:0002092); Gastrointestinal telangiectasia (HP:0002604)" "" "" "" "" "" "" "" "" "" "" "" "0000244903" "00198" "00326440" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "brain arteriovenous malformations" "" "0000244904" "00198" "00326441" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "brain arteriovenous malformations" "" "0000244905" "00198" "00326442" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "brain arteriovenous malformations" "" "0000244906" "00198" "00326443" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "brain arteriovenous malformations" "" "0000254225" "01537" "00358926" "01164" "Unknown" "21y" "pulmonary arterial hypertension" "" "" "" "" "" "" "" "" "" "" "" "0000354694" "05292" "00469541" "03256" "Complex" "" "PID with recurrent upper respiratory tract infections and neutropenia" "" "" "" "" "" "" "" "" "3y" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000015" "00000015" "1" "00004" "" "2012-05-11 13:18:39" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000068" "00000068" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000081576" "00081436" "1" "01783" "01783" "2016-10-14 04:00:54" "" "" "SEQ-NG" "DNA" "blood" "" "0000104200" "00103745" "1" "01602" "01602" "2017-04-18 11:54:00" "" "" "SEQ-NG-I" "DNA" "" "" "0000266769" "00265646" "1" "01164" "01164" "2019-09-30 10:07:50" "" "" "SEQ-NG-S" "DNA" "" "" "0000293713" "00292545" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293714" "00292546" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000327654" "00326440" "1" "00006" "00006" "2021-01-12 13:51:34" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000327655" "00326441" "1" "00006" "00006" "2021-01-12 13:51:34" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000327656" "00326442" "1" "00006" "00006" "2021-01-12 13:51:34" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000327657" "00326443" "1" "00006" "00006" "2021-01-12 13:51:34" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000360159" "00358926" "1" "01164" "01164" "2021-03-17 14:11:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000398904" "00397666" "1" "04141" "04141" "2021-12-27 20:33:54" "" "" "MLPA;PCR" "DNA" "Peripheral blood" "" "0000471209" "00469541" "1" "03256" "03256" "2025-11-17 16:15:58" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 42 "{{screeningid}}" "{{geneid}}" "0000000015" "ALG6" "0000000015" "ARSB" "0000000015" "ATP7B" "0000000015" "BMPR2" "0000000015" "DPYD" "0000000015" "ETFB" "0000000015" "GALC" "0000000015" "GLB1" "0000000015" "NHLRC1" "0000000015" "NPHS1" "0000000015" "SERPINA1" "0000000015" "TGM1" "0000000068" "ADA" "0000000068" "ATP7B" "0000000068" "BMPR2" "0000000068" "CDH23" "0000000068" "CYP21A2" "0000000068" "ENPP1" "0000000068" "ETFB" "0000000068" "FKTN" "0000000068" "HBB" "0000000068" "HGSNAT" "0000000068" "IGHMBP2" "0000000068" "IVD" "0000000068" "MTHFR" "0000000068" "MYO5A" "0000000068" "NPHS1" "0000000068" "SERPINA1" "0000081576" "BMPR2" "0000327654" "BMPR2" "0000327655" "BMPR2" "0000327656" "BMPR2" "0000327657" "BMPR2" "0000360159" "BMPR2" "0000398904" "ACVRL1" "0000398904" "BMPR2" "0000398904" "CAV1" "0000398904" "CBLN2" "0000398904" "ENG" "0000398904" "KCNK3" "0000398904" "SMAD9" "0000471209" "SERPING1" ## 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 = 52 "{{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}}" "0000000847" "0" "50" "2" "203420712" "203420712" "subst" "0.0244269" "00002" "BMPR2_000001" "g.203420712G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.202555989G>A" "" "VUS" "" "0000000848" "0" "50" "2" "203420712" "203420712" "subst" "0.0244269" "00002" "BMPR2_000001" "g.203420712G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.202555989G>A" "" "VUS" "" "0000132240" "0" "50" "2" "203420027" "203420027" "subst" "0" "01783" "BMPR2_000002" "g.203420027T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.202555304T>C" "" "VUS" "" "0000168857" "0" "50" "2" "203420979" "203420979" "subst" "2.43712E-5" "01602" "BMPR2_000003" "g.203420979C>T" "" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "" "" "Unknown" "" "rs377763312" "0" "" "" "g.202556256C>T" "" "VUS" "" "0000245829" "0" "10" "2" "203379681" "203379681" "subst" "0.0147209" "02330" "BMPR2_000007" "g.203379681A>C" "" "" "" "BMPR2(NM_001204.7):c.600A>C (p.L200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.202514958A>C" "" "benign" "" "0000258685" "0" "30" "2" "203242196" "203242196" "subst" "4.0618E-6" "02330" "BMPR2_000004" "g.203242196G>A" "" "" "" "BMPR2(NM_001204.7):c.-2G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.202377473G>A" "" "likely benign" "" "0000258686" "0" "10" "2" "203420712" "203420712" "subst" "0.0244269" "02330" "BMPR2_000001" "g.203420712G>A" "" "" "" "BMPR2(NM_001204.6):c.2324G>A (p.(Ser775Asn)), BMPR2(NM_001204.7):c.2324G>A (p.S775N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.202555989G>A" "" "benign" "" "0000258687" "0" "10" "2" "203421199" "203421199" "subst" "0.119262" "02330" "BMPR2_000014" "g.203421199G>A" "" "" "" "BMPR2(NM_001204.7):c.2811G>A (p.R937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.202556476G>A" "" "benign" "" "0000258688" "0" "10" "2" "203379597" "203379597" "subst" "0.000235648" "02330" "BMPR2_000006" "g.203379597T>C" "" "" "" "BMPR2(NM_001204.7):c.530-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.202514874T>C" "" "benign" "" "0000259277" "0" "10" "2" "203384789" "203384789" "dup" "0" "02325" "BMPR2_000010" "g.203384789dup" "" "" "" "BMPR2(NM_001204.7):c.853-21dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.202520066dup" "" "benign" "" "0000259278" "0" "10" "2" "203384788" "203384788" "dup" "0" "02325" "BMPR2_000011" "g.203384788dup" "" "" "" "BMPR2(NM_001204.7):c.853-21delCinsTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.202520065dup" "" "benign" "" "0000259279" "0" "10" "2" "203384787" "203384788" "dup" "0" "02325" "BMPR2_000009" "g.203384787_203384788dup" "" "" "" "BMPR2(NM_001204.7):c.853-23_853-22dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.202520064_202520065dup" "" "benign" "" "0000259791" "0" "90" "2" "203417496" "203417496" "subst" "0" "02325" "BMPR2_000012" "g.203417496C>T" "" "" "" "BMPR2(NM_001204.7):c.1471C>T (p.R491W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.202552773C>T" "" "pathogenic" "" "0000259792" "0" "90" "2" "203242244" "203242244" "subst" "0" "02325" "BMPR2_000005" "g.203242244G>A" "" "" "" "BMPR2(NM_001204.7):c.47G>A (p.W16*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.202377521G>A" "" "pathogenic" "" "0000328049" "0" "50" "2" "203420819" "203420819" "subst" "4.0622E-6" "01804" "BMPR2_000013" "g.203420819G>A" "" "" "" "BMPR2(NM_001204.6):c.2431G>A (p.(Gly811Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.202556096G>A" "" "VUS" "" "0000343153" "0" "70" "2" "203420177" "203420177" "subst" "0" "02327" "BMPR2_000015" "g.203420177C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.202555454C>T" "" "likely pathogenic" "" "0000513953" "0" "50" "2" "203383771" "203383772" "ins" "0" "02325" "BMPR2_000016" "g.203383771_203383772insATA" "" "" "" "BMPR2(NM_001204.7):c.848_849insATA (p.P283_N284insY)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.202519048_202519049insATA" "" "VUS" "" "0000513956" "0" "30" "2" "203407042" "203407042" "subst" "6.90467E-5" "01804" "BMPR2_000019" "g.203407042G>A" "" "" "" "BMPR2(NM_001204.6):c.1285G>A (p.(Val429Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.202542319G>A" "" "likely benign" "" "0000513957" "0" "30" "2" "203420104" "203420104" "subst" "0.000385787" "01804" "BMPR2_000020" "g.203420104G>A" "" "" "" "BMPR2(NM_001204.6):c.1716G>A (p.(Met572Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.202555381G>A" "" "likely benign" "" "0000513958" "0" "30" "2" "203420123" "203420123" "subst" "3.6547E-5" "02330" "BMPR2_000021" "g.203420123A>G" "" "" "" "BMPR2(NM_001204.7):c.1735A>G (p.I579V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.202555400A>G" "" "likely benign" "" "0000513959" "0" "90" "2" "203420159" "203420159" "subst" "8.12605E-6" "02327" "BMPR2_000022" "g.203420159C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.202555436C>T" "" "pathogenic" "" "0000513961" "0" "30" "2" "203420712" "203420712" "subst" "0.0244269" "01804" "BMPR2_000001" "g.203420712G>A" "" "" "" "BMPR2(NM_001204.6):c.2324G>A (p.(Ser775Asn)), BMPR2(NM_001204.7):c.2324G>A (p.S775N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.202555989G>A" "" "likely benign" "" "0000513962" "0" "90" "2" "203421083" "203421083" "subst" "0" "02325" "BMPR2_000024" "g.203421083C>T" "" "" "" "BMPR2(NM_001204.7):c.2695C>T (p.R899*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.202556360C>T" "" "pathogenic" "" "0000597586" "0" "90" "2" "203417496" "203417496" "subst" "0" "01164" "BMPR2_000012" "g.203417496C>T" "" "" "" "" "ACMG grading: PP3, PM5, PS3, PM2, PP1;; reported in Deng 2000. Am J Hum Genet 67: 737; Rudarakanchana 2002. Hum Mol Genet 11: 1517; Ghigna 2016. Eur Respir 48: 1668; Zhicheng 2004. Biochem Biophys Res Commun 4: 1033" "Germline" "" "rs137852746" "0" "" "" "g.202552773C>T" "" "pathogenic" "ACMG" "0000607393" "0" "10" "2" "203384788" "203384789" "ins" "0" "02330" "BMPR2_000025" "g.203384788_203384789insTC" "" "" "" "BMPR2(NM_001204.7):c.853-22_853-21insTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.202520065_202520066insTC" "" "benign" "" "0000607394" "0" "10" "2" "203384789" "203384789" "dup" "0" "02330" "BMPR2_000010" "g.203384789dup" "" "" "" "BMPR2(NM_001204.7):c.853-21dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.202520066dup" "" "benign" "" "0000607395" "0" "90" "2" "203384898" "203384902" "del" "0" "02325" "BMPR2_000026" "g.203384898_203384902del" "" "" "" "BMPR2(NM_001204.7):c.941_945delATCTT (p.Y314Sfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.202520175_202520179del" "" "pathogenic" "" "0000607396" "0" "90" "2" "203397360" "203397360" "subst" "0" "02325" "BMPR2_000027" "g.203397360T>A" "" "" "" "BMPR2(NM_001204.7):c.1181T>A (p.L394*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.202532637T>A" "" "pathogenic" "" "0000650402" "1" "30" "2" "203241529" "203241529" "subst" "0" "03575" "BMPR2_000028" "g.203241529G>A" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs115604088}" "Germline" "" "rs115604088" "0" "" "" "g.202376806G>A" "" "likely benign" "" "0000650403" "1" "30" "2" "203420712" "203420712" "subst" "0.0244269" "03575" "BMPR2_000001" "g.203420712G>A" "36/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "36 heterozygous, no homozygous; {DB:CLININrs2228545}" "Germline" "" "rs2228545" "0" "" "" "g.202555989G>A" "" "likely benign" "" "0000654497" "0" "10" "2" "203378404" "203378404" "del" "0" "02326" "BMPR2_000029" "g.203378404del" "" "" "" "BMPR2(NM_001204.6):c.419-38delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.202513681del" "" "benign" "" "0000676446" "0" "90" "2" "203395543" "203395543" "subst" "0" "02329" "BMPR2_000030" "g.203395543C>T" "" "" "" "BMPR2(NM_001204.7):c.994C>T (p.R332*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000711437" "21" "50" "2" "203395591" "203395591" "subst" "0.000523858" "00006" "BMPR2_000031" "g.203395591G>A" "" "{PMID:Wang 2018:30120215}" "" "" "" "Germline" "" "" "0" "" "" "g.202530868G>A" "" "VUS" "" "0000711438" "11" "50" "2" "203417506" "203417506" "subst" "6.09117E-5" "00006" "BMPR2_000032" "g.203417506C>T" "" "{PMID:Wang 2018:30120215}" "" "" "" "Germline" "" "" "0" "" "" "g.202552783C>T" "" "VUS" "" "0000711439" "11" "50" "2" "203417506" "203417506" "subst" "6.09117E-5" "00006" "BMPR2_000032" "g.203417506C>T" "" "{PMID:Wang 2018:30120215}" "" "" "" "Germline" "" "" "0" "" "" "g.202552783C>T" "" "VUS" "" "0000711440" "11" "50" "2" "203421066" "203421066" "subst" "8.12387E-6" "00006" "BMPR2_000033" "g.203421066G>A" "" "{PMID:Wang 2018:30120215}" "" "" "" "Germline" "" "" "0" "" "" "g.202556343G>A" "" "VUS" "" "0000759886" "0" "90" "2" "203332371" "203332371" "subst" "0" "01164" "BMPR2_000034" "g.203332371A>G" "" "PMID: 20534176, 29843651, 19555857, 21737554" "" "" "ACMG PS4_MOD, PM1, PM2_SUP, PP3" "Germline" "?" "" "0" "" "" "" "{CV-RCV:000488669.2}" "likely pathogenic (dominant)" "ACMG" "0000831199" "0" "70" "2" "203420713" "203420713" "subst" "0" "04141" "BMPR2_000035" "g.203420713C>A" "" "{PMID:Xi 2016:26820968}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000849654" "0" "90" "2" "203332393" "203332393" "del" "0" "01943" "BMPR2_000037" "g.203332393del" "" "" "" "BMPR2(NM_001204.6):c.399delT (p.P134Lfs*18), BMPR2(NM_001204.7):c.399delT (p.P134Lfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000849655" "0" "30" "2" "203421136" "203421136" "subst" "0.000865403" "02326" "BMPR2_000038" "g.203421136T>C" "" "" "" "BMPR2(NM_001204.6):c.2748T>C (p.L916=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858245" "0" "90" "2" "203329698" "203329698" "dup" "0" "02329" "BMPR2_000036" "g.203329698dup" "" "" "" "BMPR2(NM_001204.7):c.243dupA (p.Q82Tfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000884691" "0" "30" "2" "203241529" "203241529" "subst" "0" "02326" "BMPR2_000028" "g.203241529G>A" "" "" "" "BMPR2(NM_001204.6):c.-669G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884692" "0" "30" "2" "203329541" "203329541" "subst" "0.0005063" "02326" "BMPR2_000039" "g.203329541A>G" "" "" "" "BMPR2(NM_001204.6):c.86A>G (p.N29S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884693" "0" "50" "2" "203383780" "203383780" "subst" "0" "02325" "BMPR2_000040" "g.203383780G>A" "" "" "" "BMPR2(NM_001204.7):c.852+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911510" "0" "10" "2" "203241897" "203241897" "subst" "0" "02330" "BMPR2_000041" "g.203241897G>A" "" "" "" "BMPR2(NM_001204.7):c.-301G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911511" "0" "50" "2" "203407052" "203407052" "subst" "0" "02326" "BMPR2_000042" "g.203407052A>G" "" "" "" "BMPR2(NM_001204.6):c.1295A>G (p.Y432C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947684" "0" "30" "2" "203379710" "203379710" "subst" "0.000597022" "02326" "BMPR2_000043" "g.203379710T>C" "" "" "" "BMPR2(NM_001204.6):c.621+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947685" "0" "90" "2" "203384909" "203384909" "subst" "0" "02325" "BMPR2_000044" "g.203384909G>T" "" "" "" "BMPR2(NM_001204.7):c.952G>T (p.E318*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000992381" "0" "90" "2" "203329655" "203329655" "subst" "0" "02325" "BMPR2_000045" "g.203329655A>G" "" "" "" "BMPR2(NM_001204.7):c.200A>G (p.Y67C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024465" "0" "90" "2" "203332393" "203332393" "del" "0" "02325" "BMPR2_000037" "g.203332393del" "" "" "" "BMPR2(NM_001204.6):c.399delT (p.P134Lfs*18), BMPR2(NM_001204.7):c.399delT (p.P134Lfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001032900" "0" "30" "2" "203393073" "203393073" "subst" "0" "01804" "BMPR2_000046" "g.203393073G>A" "" "" "" "BMPR2(NM_001204.7):c.968-2444G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001059344" "21" "50" "2" "203417506" "203417506" "subst" "6.09117E-5" "03256" "BMPR2_000032" "g.203417506C>T" "0.00002" "{DOI:Chi 2018:10.1097/MD.0000000000012695}" "" "" "A compound heterozygous male proband carrying 3 variants : c.[NM_000383.3(AIRE):595G>A;NM_000062.2(SERPING1),474A>G];[NM_001204.6(BMPR2):1481C>T] \r\nThe variant is located in the kinase domain of BMPR2 (amino acids 203-504) but there is no functional evidence for or against this residue being critical. \r\nThe MAF in gnomAD v2.1.1 is 0.0016% (11/7044 alleles), which exceeds the PH VCEP threshold of >0.1% for BS1. \r\nBased on the ACMG/AMP criteria applied, as specified by the ClinGen Pulmonary Hypertension VCEP: BS1, PM1, PP3." "Germline" "" "rs2229778" "0" "" "" "g.202552783C>T" "{CV-SCV:005043296.1}" "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 BMPR2 ## Count = 52 "{{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}}" "0000000847" "00000022" "50" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Ser775Asn)" "12" "0000000848" "00000022" "50" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Ser775Asn)" "12" "0000132240" "00000022" "50" "1639" "0" "1639" "0" "c.1639T>C" "r.(1639u>c)" "p.(Ser547Pro)" "12" "0000168857" "00000022" "50" "2591" "0" "2591" "0" "c.2591C>T" "r.(?)" "p.(Pro864Leu)" "12" "0000245829" "00000022" "10" "600" "0" "600" "0" "c.600A>C" "r.(?)" "p.(Leu200=)" "" "0000258685" "00000022" "30" "-2" "0" "-2" "0" "c.-2G>A" "r.(?)" "p.(=)" "" "0000258686" "00000022" "10" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Ser775Asn)" "" "0000258687" "00000022" "10" "2811" "0" "2811" "0" "c.2811G>A" "r.(?)" "p.(Arg937=)" "" "0000258688" "00000022" "10" "530" "-14" "530" "-14" "c.530-14T>C" "r.(=)" "p.(=)" "" "0000259277" "00000022" "10" "853" "-21" "853" "-21" "c.853-21dup" "r.(=)" "p.(=)" "" "0000259278" "00000022" "10" "853" "-22" "853" "-22" "c.853-22dup" "r.(=)" "p.(=)" "" "0000259279" "00000022" "10" "853" "-23" "853" "-22" "c.853-23_853-22dup" "r.(=)" "p.(=)" "" "0000259791" "00000022" "90" "1471" "0" "1471" "0" "c.1471C>T" "r.(?)" "p.(Arg491Trp)" "" "0000259792" "00000022" "90" "47" "0" "47" "0" "c.47G>A" "r.(?)" "p.(Trp16Ter)" "" "0000328049" "00000022" "50" "2431" "0" "2431" "0" "c.2431G>A" "r.(?)" "p.(Gly811Ser)" "" "0000343153" "00000022" "70" "1789" "0" "1789" "0" "c.1789C>T" "r.(?)" "p.(Arg597Ter)" "" "0000513953" "00000022" "50" "848" "0" "849" "0" "c.848_849insATA" "r.(?)" "p.(Pro283_Asn284insTyr)" "" "0000513956" "00000022" "30" "1285" "0" "1285" "0" "c.1285G>A" "r.(?)" "p.(Val429Ile)" "" "0000513957" "00000022" "30" "1716" "0" "1716" "0" "c.1716G>A" "r.(?)" "p.(Met572Ile)" "" "0000513958" "00000022" "30" "1735" "0" "1735" "0" "c.1735A>G" "r.(?)" "p.(Ile579Val)" "" "0000513959" "00000022" "90" "1771" "0" "1771" "0" "c.1771C>T" "r.(?)" "p.(Arg591Ter)" "" "0000513961" "00000022" "30" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Ser775Asn)" "" "0000513962" "00000022" "90" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899Ter)" "" "0000597586" "00000022" "90" "1471" "0" "1471" "0" "c.1471C>T" "r.(?)" "p.(Arg491Trp)" "" "0000607393" "00000022" "10" "853" "-22" "853" "-21" "c.853-22_853-21insTC" "r.(=)" "p.(=)" "" "0000607394" "00000022" "10" "853" "-21" "853" "-21" "c.853-21dup" "r.(=)" "p.(=)" "" "0000607395" "00000022" "90" "941" "0" "945" "0" "c.941_945del" "r.(?)" "p.(Tyr314SerfsTer11)" "" "0000607396" "00000022" "90" "1181" "0" "1181" "0" "c.1181T>A" "r.(?)" "p.(Leu394Ter)" "" "0000650402" "00000022" "30" "-669" "0" "-669" "0" "c.-669G>A" "r.(=)" "p.(=)" "" "0000650403" "00000022" "30" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Ser775Asn)" "" "0000654497" "00000022" "10" "419" "-38" "419" "-38" "c.419-38del" "r.(=)" "p.(=)" "" "0000676446" "00000022" "90" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332Ter)" "" "0000711437" "00000022" "50" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Val348Ile)" "" "0000711438" "00000022" "50" "1481" "0" "1481" "0" "c.1481C>T" "r.(?)" "p.(Ala494Val)" "" "0000711439" "00000022" "50" "1481" "0" "1481" "0" "c.1481C>T" "r.(?)" "p.(Ala494Val)" "" "0000711440" "00000022" "50" "2678" "0" "2678" "0" "c.2678G>A" "r.(?)" "p.(Arg893Gln)" "" "0000759886" "00000022" "90" "377" "0" "377" "0" "c.377A>G" "r.(?)" "p.(Asn126Ser)" "" "0000831199" "00000022" "70" "2325" "0" "2325" "0" "c.2325C>A" "r.(?)" "p.(Ser775Arg)" "" "0000849654" "00000022" "90" "399" "0" "399" "0" "c.399del" "r.(?)" "p.(Pro134Leufs*18)" "" "0000849655" "00000022" "30" "2748" "0" "2748" "0" "c.2748T>C" "r.(?)" "p.(Leu916=)" "" "0000858245" "00000022" "90" "243" "0" "243" "0" "c.243dup" "r.(?)" "p.(Gln82Thrfs*16)" "" "0000884691" "00000022" "30" "-669" "0" "-669" "0" "c.-669G>A" "r.(?)" "p.(=)" "" "0000884692" "00000022" "30" "86" "0" "86" "0" "c.86A>G" "r.(?)" "p.(Asn29Ser)" "" "0000884693" "00000022" "50" "852" "5" "852" "5" "c.852+5G>A" "r.spl?" "p.?" "" "0000911510" "00000022" "10" "-301" "0" "-301" "0" "c.-301G>A" "r.(?)" "p.(=)" "" "0000911511" "00000022" "50" "1295" "0" "1295" "0" "c.1295A>G" "r.(?)" "p.(Tyr432Cys)" "" "0000947684" "00000022" "30" "621" "8" "621" "8" "c.621+8T>C" "r.(=)" "p.(=)" "" "0000947685" "00000022" "90" "952" "0" "952" "0" "c.952G>T" "r.(?)" "p.(Glu318*)" "" "0000992381" "00000022" "90" "200" "0" "200" "0" "c.200A>G" "r.(?)" "p.(Tyr67Cys)" "" "0001024465" "00000022" "90" "399" "0" "399" "0" "c.399del" "r.(?)" "p.(Pro134Leufs*18)" "" "0001032900" "00000022" "30" "968" "-2444" "968" "-2444" "c.968-2444G>A" "r.(=)" "p.(=)" "" "0001059344" "00000022" "50" "1481" "0" "1481" "0" "c.1481C>T" "r.(?)" "p.(Ala494Val)" "11" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000000015" "0000000848" "0000000068" "0000000847" "0000081576" "0000132240" "0000104200" "0000168857" "0000266769" "0000597586" "0000293713" "0000650402" "0000293714" "0000650403" "0000327654" "0000711437" "0000327655" "0000711438" "0000327656" "0000711439" "0000327657" "0000711440" "0000360159" "0000759886" "0000398904" "0000831199" "0000471209" "0001059344"