### 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" "NC_000002.11" "UD_132084507728" "" "https://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" "2026-10-02 09:01:46" "00006" "2026-10-02 09:38:00" ## 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 = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "ASD" "autism spectrum disorder" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2026-09-08 10:43:23" "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" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## 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 = 20 "{{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" "" "" "" "" "00485227" "" "" "" "1" "" "00006" "{PMID:Mok 2026:42767215}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "Scandinavia;Ireland" "Pat1" "00485228" "" "" "" "1" "" "00006" "{PMID:Mok 2026:42767215}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "Hispanic" "Pat2" "00485229" "" "" "" "1" "" "00006" "{PMID:Mok 2026:42767215}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "Spain;Italy;Cuba" "Pat3" "00485230" "" "" "" "1" "" "00006" "{PMID:Mok 2026:42767215}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat4" "00485231" "" "" "" "1" "" "00006" "{PMID:Mok 2026:42767215}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "" "" "" "0" "" "" "America-Central" "Pat5" "00485232" "" "" "" "1" "" "00006" "{PMID:Mok 2026:42767215}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{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" "00485227" "05611" "00485228" "05611" "00485229" "05611" "00485230" "05611" "00485231" "05611" "00485232" "05611" ## 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, 05611 ## Count = 15 "{{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/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" "" "" "0000367938" "05611" "00485227" "00006" "Isolated (sporadic)" "16y" "see paper; ..., prenatal unremarkable; no indication for pulmonary evaluation, unable to perform; no cardiovascular abnormality; deep-set eyes with narrow palpebral fissures, laterally protruding ears, prominent nasal tip, squared chin, 5th finger clinodactyly, right transverse palmar crease, macro-orchidism; no developmental delay; autism spectrum disorder; attention deficit hyperactivity disorder; anxiety; hyperactivity, pragmatic, impulsive, wringing hands, rocking; no seizures; periodic limb movement disorder; strabismus, mildly enlarged kidney with duplication renal arteries/veins, bilateral inguinal hernia (18m-post surgery), obstructive sleep apnea" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000367939" "05611" "00485228" "00006" "Isolated (sporadic)" "17y" "see paper; ..., prenatal unremarkable; no indication for pulmonary evaluation; no cardiovascular abnormality; normocephalic with down-slanting palpebral fissures (mild), long eyelashes, normal tone, “thick skin”; global developmental delay, regression, 6m-motor delay/hypotonia, 8m-roll, 12m-site, 15m-cruis, 18m-walk, 8w-smile, 6m-babble; speech 9m-mama/dada nonspecifi (12m- specific), 12m-irst words, 3y-first phrases; autism spectrum disorder; seizure disorder (4y-first multifocal seizure); MRI brain 4y-normal; 6m-hypotonia" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000367940" "05611" "00485229" "00006" "Isolated (sporadic)" "9y" "see paper; ..., intrauterine growth restriction, single artery umbilical cord; no indication for pulmonary evaluation; no cardiovascular abnormality; microcephaly, hypoteloric, prominent ears; global developmental delay9m-sit, 12m-crawl, 2y-walk; 14m-first words, 3y-2-3 word sentences; dyslexia; cannot read but can do basic arithmetic; angry outbursts; MRI brain 9y-normal brain, sacral dimple; no seizures; failure to thrive" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000367941" "05611" "00485230" "00006" "Isolated (sporadic)" "6y" "see paper; ..., no cardiovascular abnormality; no dysmorphic features; motor delay, speech delay, language delay (uses longer sentences of his own and is, able to tell something that happened); 7m-sit, 18m-walke, 17m-talk, self-care abilities slightly below age level; autism spectrum disorder; no seizures" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000367942" "05611" "00485231" "00006" "Isolated (sporadic)" "7y" "see paper; ..., pre-eclampsia; no indication for pulmonary evaluation; small atrial septal defect, small aortopulmonary collateral vessel; microcephaly, brachycephaly, sacral dimple, porencephaly right periventricular region, left umbilical hernia, short forehead, low anterior hairline, telecanthus, thin eyebrows, small nose, cupped ears, pointed chin, masked face, slender hands and fingers, palms rough to palpation; global developmental delay, aggression, sleep problems; nonverbal; mixed receptive expressive language disorder; 4m-smil, 7m-roll, 8.5m-sit, 18m-walke; autism spectrum disorder; hyperactive, impulsive, rocking, sensitive to loud noises and crowds; MRI brain 5y-periventricular white matter gliosis, no progression over time; no seizures; left spastic diplegia" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000367943" "05611" "00485232" "00006" "Isolated (sporadic)" "1y8m" "see paper; ..., prenatal ultrasound enlarged kidneys; ECG 6m-heart murmur, 16m-(stable, no indirect evidence of pulmonary hypertension; excessive trabeculations left ventricle due to heart murmur; normocephalic with prominent ears, epicanthal folds, small nostrils, overlapping toes; global developmental delay, 4m-sit, 19m-walk, 20m-first words (mama, yum yum), gestures “more”; 2 seizure-like events, EEG norma; no hypo-/hypertonia; failure to thrive" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{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" "" "" "0000486884" "00485227" "1" "00006" "00006" "2026-10-02 09:37:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000486885" "00485228" "1" "00006" "00006" "2026-10-02 09:37:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000486886" "00485229" "1" "00006" "00006" "2026-10-02 09:37:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000486887" "00485230" "1" "00006" "00006" "2026-10-02 09:37:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000486888" "00485231" "1" "00006" "00006" "2026-10-02 09:37:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES duo" "0000486889" "00485232" "1" "00006" "00006" "2026-10-02 09:37:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" ## 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 = 58 "{{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" "" "0001090050" "0" "70" "2" "203395675" "203395675" "subst" "0" "00006" "chr2_024671" "g.203395675G>A" "" "{PMID:Mok 2026:42767215}" "" "" "ACMG PS2, PS4, PM1, PP3" "De novo" "" "" "0" "" "" "g.202530952G>A" "" "likely pathogenic (dominant)" "" "0001090051" "0" "70" "2" "203395675" "203395675" "subst" "0" "00006" "chr2_024671" "g.203395675G>A" "" "{PMID:Mok 2026:42767215}" "" "" "ACMG PS2, PS4, PM1, PP3" "De novo" "" "" "0" "" "" "g.202530952G>A" "" "likely pathogenic (dominant)" "" "0001090052" "0" "70" "2" "203395675" "203395675" "subst" "0" "00006" "chr2_024671" "g.203395675G>A" "" "{PMID:Mok 2026:42767215}" "" "" "ACMG PS2, PS4, PM1, PP3" "De novo" "" "" "0" "" "" "g.202530952G>A" "" "likely pathogenic (dominant)" "" "0001090053" "0" "70" "2" "203395675" "203395675" "subst" "0" "00006" "chr2_024671" "g.203395675G>A" "" "{PMID:Mok 2026:42767215}" "" "" "ACMG PS2, PS4, PM1, PP3" "De novo" "" "" "0" "" "" "g.202530952G>A" "" "likely pathogenic (dominant)" "" "0001090054" "0" "70" "2" "203395675" "203395675" "subst" "0" "00006" "chr2_024671" "g.203395675G>A" "" "{PMID:Mok 2026:42767215}" "" "" "father not available; ACMG PS2, PS4, PM1, PP3" "De novo" "" "" "0" "" "" "g.202530952G>A" "" "likely pathogenic (dominant)" "" "0001090055" "0" "70" "2" "203395675" "203395675" "subst" "0" "00006" "chr2_024671" "g.203395675G>A" "" "{PMID:Mok 2026:42767215}" "" "" "ACMG PS2, PS4, PM1, PP3" "De novo" "" "" "0" "" "" "g.202530952G>A" "" "likely pathogenic (dominant)" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes BMPR2 ## Count = 58 "{{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" "0001090050" "00000022" "70" "1126" "0" "1126" "0" "c.1126G>A" "r.(1126G>A)" "p.(Glu376Lys)" "" "0001090051" "00000022" "70" "1126" "0" "1126" "0" "c.1126G>A" "r.(1126G>A)" "p.(Glu376Lys)" "" "0001090052" "00000022" "70" "1126" "0" "1126" "0" "c.1126G>A" "r.(1126G>A)" "p.(Glu376Lys)" "" "0001090053" "00000022" "70" "1126" "0" "1126" "0" "c.1126G>A" "r.(1126G>A)" "p.(Glu376Lys)" "" "0001090054" "00000022" "70" "1126" "0" "1126" "0" "c.1126G>A" "r.(1126G>A)" "p.(Glu376Lys)" "" "0001090055" "00000022" "70" "1126" "0" "1126" "0" "c.1126G>A" "r.(1126G>A)" "p.(Glu376Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{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" "0000486884" "0001090050" "0000486885" "0001090051" "0000486886" "0001090052" "0000486887" "0001090053" "0000486888" "0001090054" "0000486889" "0001090055"