### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BMP2) # 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}}" "BMP2" "bone morphogenetic protein 2" "20" "p12" "unknown" "NG_023233.1" "UD_132084449094" "" "http://www.LOVD.nl/BMP2" "" "1" "1069" "650" "112261" "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/BMP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-10 21:32:04" "00006" "2025-06-19 19:37:56" ## 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}}" "00003423" "BMP2" "bone morphogenetic protein 2" "001" "NM_001200.2" "" "NP_001191.1" "" "" "" "-785" "2365" "1191" "6748745" "6760910" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00184" "BDA2" "brachydactyly, type A2 (BD-A2)" "AD" "112600" "" "" "" "00006" "2013-09-02 22:18:15" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00411" "HFE1" "hemochromatosis, type 1 (HFE-1)" "AR" "235200" "" "" "" "00006" "2014-06-15 21:19:45" "00006" "2021-12-10 21:51:32" "04327" "CRS" "craniosynostosis (CRS)" "" "" "" "" "" "00006" "2015-09-12 20:59:03" "" "" "05155" "OPLL" "ossification, posterior longitudinal ligament spine (OPLL)" "" "" "" "" "" "00006" "2016-04-14 16:02:41" "" "" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "06515" "SSFSC" "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" "AD" "617877" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "BMP2" "00184" "BMP2" "00411" "BMP2" "06515" ## Individuals ## Do not remove or alter this header ## ## Count = 48 "{{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}}" "00081420" "" "" "" "5" "" "01783" "" "" "-" "" "China" "" "0" "" "" "Han" "" "00081423" "" "" "" "3" "" "01783" "" "" "-" "" "China" "" "0" "" "" "Han" "" "00081433" "" "" "" "1" "" "01783" "" "" "" "" "China" "" "0" "" "" "Han" "" "00081436" "" "" "" "1" "" "01783" "" "" "" "" "China" "" "0" "" "" "Han" "" "00285891" "" "" "" "2" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "3-generation family, 1 affected, unaffected heterozygous carrier mother (de novo)" "M" "" "" "" "0" "" "" "" "SAGMET101PatIII1" "00285892" "" "" "" "3" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "2-generation family, 2 affected, unaffected heterozygous carrier father" "M" "" "" "" "0" "" "" "" "SAGMET104-1PatII1" "00285893" "" "" "" "3" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "3-generation family, 2 affected, unaffected heterozygous carrier sister" "F" "" "" "" "0" "" "" "" "SAGMET100-1PatII1" "00285894" "" "" "" "2" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "2-generation family, 2 affected, unaffected heterozygous carrier father" "M" "" "" "" "0" "" "" "" "SAG2220-1PatII1" "00285895" "" "" "" "3" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "3-generation family, 1 affected, unaffected heterozygous carrier father/grandmother" "F" "" "" "" "0" "" "" "" "SAG210-1PatIII1" "00285896" "" "" "" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "2-generation family, 2 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "SAG158-1PatII1" "00285897" "" "" "" "2" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "MET179-1PatII1" "00285898" "" "" "" "3" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "2-generation family, 1 affected, unaffected heterozygous carrier father/sister" "F" "" "" "" "0" "" "" "" "MET127-1PatII1" "00285899" "" "" "" "2" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "2-generation family, 1 affected, unaffected heterozygous carrier father/sister" "M" "" "" "" "0" "" "" "" "MET148-1PatII1" "00285900" "" "" "" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "MET153-1PatII1" "00285901" "" "" "" "3" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "2-generation family, affected twin pair, unaffected heterozygous carrier father" "M" "" "" "" "0" "" "" "" "MET154-1PatII1/2" "00285902" "" "" "" "2" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "2-generation family, affected twin pair, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "MET111-1PatII1/2" "00285903" "" "" "" "3" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "3-generation family, 1 affected, unaffected heterozygous carrier father/grandfather" "M" "" "" "" "0" "" "" "" "MET115-1PatIII2" "00285906" "" "" "00285891" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier mother" "F" "" "" "" "0" "" "" "" "SAGMET101PatII1" "00285907" "" "" "00285892" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier father" "M" "" "" "" "0" "" "" "" "SAGMET104-1PatI2" "00285908" "" "" "00285892" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "brother" "M" "" "" "" "0" "" "" "" "SAGMET104-1PatII2" "00285909" "" "" "00285893" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier sister" "F" "" "" "" "0" "" "" "" "SAGMET100-1PatII2" "00285910" "" "" "00285893" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "nephew" "M" "" "" "" "0" "" "" "" "SAGMET100-1PatIII1" "00285911" "" "" "00285894" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier father" "M" "" "" "" "0" "" "" "" "SAG2220-1PatI2" "00285912" "" "" "00285895" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier father" "M" "" "" "" "0" "" "" "" "SAG210-1PatII2" "00285913" "" "" "00285895" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier grandmother" "F" "" "" "" "0" "" "" "" "SAG210-1PatI1" "00285914" "" "" "00285897" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier mother" "F" "" "" "" "0" "" "" "" "MET179-1PatI1" "00285915" "" "" "00285898" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier father" "M" "" "" "" "0" "" "" "" "MET127-1PatI2" "00285916" "" "" "00285898" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier sister" "F" "" "" "" "0" "" "" "" "MET127-1PatII2" "00285917" "" "" "00285899" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier father" "M" "" "" "" "0" "" "" "" "MET148-1PatI2" "00285918" "" "" "00285901" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier father" "M" "" "" "" "0" "" "" "" "MET154-1PatI1" "00285919" "" "" "00285903" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier father" "M" "" "" "" "0" "" "" "" "MET115-1PatII2" "00285920" "" "" "00285903" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "unaffected carrier grandfather" "M" "" "" "" "0" "" "" "" "MET115-1PatI2" "00285921" "" "" "" "2" "" "00006" "{PMID:Timberlake 2017:28808027}, {PMID:Timberlake 2018:30038786}" "2-generation family, 1 affected, unaffected parents" "F" "no" "United States" "" "0" "" "" "" "Fam18PatII2/FamPat1" "00285922" "" "" "" "3" "" "00006" "{PMID:Timberlake 2017:28808027}" "2-generation family, 1 affected" "F" "" "" "" "0" "" "" "" "Fam14PatI1" "00285923" "" "" "00285922" "1" "" "00006" "{PMID:Timberlake 2017:28808027}" "" "M" "" "" "" "0" "" "" "" "Fam14PatII1" "00285924" "" "" "00285922" "1" "" "00006" "{PMID:Timberlake 2017:28808027}" "sister" "F" "" "" "" "0" "" "" "" "Fam14PatII2" "00285925" "" "" "" "4" "" "00006" "{PMID:Timberlake 2017:28808027}" "3-generation family, 1 affected" "F" "" "" "" "0" "" "" "" "Fam15PatI1" "00285926" "" "" "00285925" "1" "" "00006" "{PMID:Timberlake 2017:28808027}" "daughter" "F" "" "" "" "0" "" "" "" "Fam15PatII1" "00285927" "" "" "00285925" "1" "" "00006" "{PMID:Timberlake 2017:28808027}" "grandson" "M" "" "" "" "0" "" "" "" "Fam15PatIII1" "00285928" "" "" "00285925" "1" "" "00006" "{PMID:Timberlake 2017:28808027}" "granddaughter" "F" "" "" "" "0" "" "" "" "Fam15PatIII2" "00285929" "" "" "00285925" "1" "" "00006" "{PMID:Timberlake 2017:28808027}" "2-generation family, 1 affected" "M" "" "" "" "0" "" "" "" "Fam16PatII1" "00285930" "" "" "" "3" "" "00006" "{PMID:Timberlake 2017:28808027}" "3-generation family, 1 affected" "M" "" "" "" "0" "" "" "" "Fam17PatI2" "00285931" "" "" "00285930" "1" "" "00006" "{PMID:Timberlake 2017:28808027}" "son" "M" "" "" "" "0" "" "" "" "Fam17PatII2" "00285932" "" "" "00285930" "1" "" "00006" "{PMID:Timberlake 2017:28808027}" "grandson" "M" "" "" "" "0" "" "" "" "Fam17PatIII2" "00285933" "" "" "00285921" "1" "" "00006" "{PMID:Timberlake 2017:28808027}" "father" "M" "" "" "" "0" "" "" "" "Fam18PatI2" "00292973" "" "" "" "242" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304869" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00465936" "" "" "" "1" "" "00006" "{PMID:Teoh 2020:31678406}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 48 "{{individualid}}" "{{diseaseid}}" "00081420" "05155" "00081423" "05155" "00081433" "05155" "00081436" "05155" "00285891" "04327" "00285892" "04327" "00285893" "04327" "00285894" "04327" "00285895" "04327" "00285896" "04327" "00285897" "04327" "00285898" "04327" "00285899" "04327" "00285900" "04327" "00285901" "04327" "00285902" "04327" "00285903" "04327" "00285906" "00000" "00285907" "00000" "00285908" "04327" "00285909" "00000" "00285910" "04327" "00285911" "00000" "00285912" "00000" "00285913" "00000" "00285914" "00000" "00285915" "00000" "00285916" "00000" "00285917" "00000" "00285918" "00000" "00285919" "00000" "00285920" "00000" "00285921" "04327" "00285922" "00000" "00285923" "04327" "00285924" "00000" "00285925" "00000" "00285926" "00000" "00285927" "04327" "00285928" "00000" "00285929" "04327" "00285930" "00000" "00285931" "00000" "00285932" "04327" "00285933" "00000" "00292973" "00198" "00304869" "00198" "00465936" "05521" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00184, 00198, 00411, 04327, 05155, 05521, 06515 ## Count = 38 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000060988" "05155" "00081420" "01783" "Unknown" "" "thoracic ossification of the ligamentum flavum with long segment" "" "" "" "" "" "" "" "" "" "" "" "0000060989" "05155" "00081423" "01783" "Unknown" "" "thoracic ossification of the ligamentum flavum with long segment" "" "" "" "" "" "" "" "" "" "" "" "0000061035" "05155" "00081433" "01783" "Unknown" "" "racic ossification of the ligamentum flavum,\r\nlong regional at the thoracic spine" "" "" "" "" "" "" "" "" "" "" "" "0000061038" "05155" "00081436" "01783" "Unknown" "" "thoracic ossification of the ligamentum flavum;\r\nlong regional at the thoracic spine" "" "" "" "" "" "" "" "" "" "" "" "0000219749" "00000" "00285906" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219750" "00000" "00285907" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219752" "00000" "00285909" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219754" "00000" "00285911" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219755" "00000" "00285912" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219756" "00000" "00285913" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219757" "00000" "00285914" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219758" "00000" "00285915" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219759" "00000" "00285916" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219760" "00000" "00285917" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219761" "00000" "00285918" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219762" "00000" "00285919" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219763" "00000" "00285920" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000219764" "04327" "00285891" "00006" "Di-genic" "" "sagittal craniosynostosis, metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219765" "04327" "00285892" "00006" "Di-genic" "" "sagittal craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219766" "04327" "00285893" "00006" "Di-genic" "" "sagittal craniosynostosis, metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219767" "04327" "00285894" "00006" "Di-genic" "" "sagittal craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219768" "04327" "00285895" "00006" "Di-genic" "" "sagittal craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219769" "04327" "00285896" "00006" "Di-genic" "" "sagittal craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219770" "04327" "00285897" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219771" "04327" "00285898" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219772" "04327" "00285899" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219773" "04327" "00285900" "00006" "Isolated (sporadic)" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219774" "04327" "00285901" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219775" "04327" "00285902" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219776" "04327" "00285903" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219781" "04327" "00285908" "00006" "Di-genic" "" "sagittal craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219783" "04327" "00285910" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219794" "04327" "00285921" "00006" "Di-genic" "" "see paper; ..., sagittal craniosynostosis, coronal craniosynostosis, recurrence of CS within two months initial surgery requiring second operatio" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219795" "04327" "00285923" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219796" "04327" "00285927" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219797" "04327" "00285929" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000219798" "04327" "00285932" "00006" "Di-genic" "" "metopic craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000351336" "05521" "00465936" "00006" "Isolated (sporadic)" "03y" "see paper; ..., 6m-seizures, infantile spasms; 3y-generalized convulsions, myoclonic seizures, tonic seizures, atonic seizures, global developmental delay, axial hypotonia, no speech, no meaningful vocalizations, unable to pull to stand, unable to support own weight; no dysmorphic features; EEG hypsarrhythmia, infantile spasms" "00y06m" "" "seizures" "" "" "" "" "" "DEDISB" "Lennox-Gastaut syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 48 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081536" "00081420" "1" "01783" "01783" "2016-10-10 03:18:37" "" "" "SEQ-NG" "DNA" "blood" "" "0000081537" "00081423" "1" "01783" "01783" "2016-10-10 03:36:33" "" "" "SEQ-NG" "DNA" "blood" "" "0000081570" "00081433" "1" "01783" "01783" "2016-10-14 03:44:13" "" "" "SEQ-NG" "DNA" "blood" "" "0000081578" "00081436" "1" "01783" "01783" "2016-10-14 04:03:31" "" "" "SEQ-NG" "DNA" "blood" "" "0000287048" "00285891" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287049" "00285892" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287050" "00285893" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287051" "00285894" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287052" "00285895" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287053" "00285896" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287054" "00285897" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287055" "00285898" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287056" "00285899" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287057" "00285900" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287058" "00285901" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287059" "00285902" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287060" "00285903" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287063" "00285906" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287064" "00285907" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287065" "00285908" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287066" "00285909" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287067" "00285910" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287068" "00285911" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287069" "00285912" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287070" "00285913" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287071" "00285914" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287072" "00285915" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287073" "00285916" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287074" "00285917" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287075" "00285918" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287076" "00285919" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287077" "00285920" "1" "00006" "00006" "2020-02-09 10:35:56" "" "" "SEQ" "DNA" "" "" "0000287078" "00285921" "1" "00006" "00006" "2020-02-09 11:12:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000287079" "00285922" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ" "DNA" "" "" "0000287080" "00285923" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287081" "00285924" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ" "DNA" "" "" "0000287082" "00285925" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ" "DNA" "" "" "0000287083" "00285926" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ" "DNA" "" "" "0000287084" "00285927" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287085" "00285928" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ" "DNA" "" "" "0000287086" "00285929" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287087" "00285930" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ" "DNA" "" "" "0000287088" "00285931" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ" "DNA" "" "" "0000287089" "00285932" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287090" "00285933" "1" "00006" "00006" "2020-02-09 12:53:46" "" "" "SEQ" "DNA" "" "" "0000294141" "00292973" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305998" "00304869" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000467588" "00465936" "1" "00006" "00006" "2025-06-19 11:24:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 87 "{{screeningid}}" "{{geneid}}" "0000081536" "BMP2" "0000081537" "BMP2" "0000081570" "BMP2" "0000081578" "BMP2" "0000287048" "BMP2" "0000287048" "SMAD6" "0000287049" "BMP2" "0000287049" "SMAD6" "0000287050" "BMP2" "0000287050" "SMAD6" "0000287051" "BMP2" "0000287051" "SMAD6" "0000287052" "BMP2" "0000287052" "SMAD6" "0000287053" "BMP2" "0000287053" "SMAD6" "0000287054" "BMP2" "0000287054" "SMAD6" "0000287055" "BMP2" "0000287055" "SMAD6" "0000287056" "BMP2" "0000287056" "SMAD6" "0000287057" "BMP2" "0000287057" "SMAD6" "0000287058" "BMP2" "0000287058" "SMAD6" "0000287059" "BMP2" "0000287059" "SMAD6" "0000287060" "BMP2" "0000287060" "SMAD6" "0000287063" "BMP2" "0000287063" "SMAD6" "0000287064" "BMP2" "0000287064" "SMAD6" "0000287065" "BMP2" "0000287065" "SMAD6" "0000287066" "BMP2" "0000287066" "SMAD6" "0000287067" "BMP2" "0000287067" "SMAD6" "0000287068" "BMP2" "0000287068" "SMAD6" "0000287069" "BMP2" "0000287069" "SMAD6" "0000287070" "BMP2" "0000287070" "SMAD6" "0000287071" "BMP2" "0000287071" "SMAD6" "0000287072" "BMP2" "0000287072" "SMAD6" "0000287073" "BMP2" "0000287073" "SMAD6" "0000287074" "BMP2" "0000287074" "SMAD6" "0000287075" "BMP2" "0000287075" "SMAD6" "0000287076" "BMP2" "0000287076" "SMAD6" "0000287077" "BMP2" "0000287077" "SMAD6" "0000287078" "BMP2" "0000287078" "SMAD6" "0000287078" "TCF12" "0000287079" "BMP2" "0000287079" "SMAD6" "0000287080" "BMP2" "0000287080" "SMAD6" "0000287081" "BMP2" "0000287081" "SMAD6" "0000287082" "BMP2" "0000287082" "SMAD6" "0000287083" "BMP2" "0000287083" "SMAD6" "0000287084" "BMP2" "0000287084" "SMAD6" "0000287085" "BMP2" "0000287085" "SMAD6" "0000287086" "BMP2" "0000287086" "SMAD6" "0000287087" "BMP2" "0000287087" "SMAD6" "0000287088" "BMP2" "0000287088" "SMAD6" "0000287089" "BMP2" "0000287089" "SMAD6" "0000287090" "BMP2" "0000287090" "SMAD6" ## 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 = 62 "{{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}}" "0000132192" "0" "90" "20" "6759005" "6759005" "subst" "0" "01783" "BMP2_000001" "g.6759005C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.6778358C>G" "" "pathogenic" "" "0000132193" "0" "90" "20" "6759129" "6759129" "subst" "0" "01783" "BMP2_000002" "g.6759129G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.6778482G>T" "" "pathogenic" "" "0000132233" "0" "90" "20" "6759005" "6759005" "subst" "0" "01783" "BMP2_000001" "g.6759005C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.6778358C>G" "" "pathogenic" "" "0000132242" "0" "90" "20" "6759129" "6759129" "subst" "0" "01783" "BMP2_000002" "g.6759129G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.6778482G>T" "" "pathogenic" "" "0000261484" "0" "10" "20" "6750882" "6750882" "subst" "0.0234907" "02326" "BMP2_000003" "g.6750882T>G" "" "" "" "BMP2(NM_001200.2):c.109T>G (p.(Ser37Ala)), BMP2(NM_001200.4):c.109T>G (p.S37A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6770235T>G" "" "benign" "" "0000570394" "0" "10" "20" "6750882" "6750882" "subst" "0.0234907" "01804" "BMP2_000003" "g.6750882T>G" "" "" "" "BMP2(NM_001200.2):c.109T>G (p.(Ser37Ala)), BMP2(NM_001200.4):c.109T>G (p.S37A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6770235T>G" "" "benign" "" "0000618305" "0" "50" "20" "6751006" "6751006" "subst" "0" "02327" "BMP2_000005" "g.6751006A>G" "" "" "" "BMP2(NM_001200.4):c.233A>G (p.Y78C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6770359A>G" "" "VUS" "" "0000618306" "0" "70" "20" "6759005" "6759005" "subst" "0" "02327" "BMP2_000006" "g.6759005C>T" "" "" "" "BMP2(NM_001200.2):c.460C>T (p.(Arg154*)), BMP2(NM_001200.4):c.460C>T (p.R154*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6778358C>T" "" "likely pathogenic" "" "0000642818" "11" "50" "20" "7106289" "7106289" "subst" "0" "00006" "BMP2_000007" "g.7106289T>C" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline" "" "rs1884302" "0" "" "" "g.7125642T>C" "" "VUS (!)" "" "0000642819" "21" "50" "20" "7106289" "7106289" "subst" "0" "00006" "BMP2_000007" "g.7106289T>C" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline" "" "rs1884302" "0" "" "" "g.7125642T>C" "" "VUS (!)" "" "0000642820" "0" "50" "20" "7106289" "7106289" "subst" "0" "00006" "BMP2_000007" "g.7106289T>C" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline" "" "rs1884302" "0" "" "" "g.7125642T>C" "" "VUS (!)" "" "0000642821" "21" "50" "20" "7106289" "7106289" "subst" "0" "00006" "BMP2_000007" "g.7106289T>C" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline" "" "rs1884302" "0" "" "" "g.7125642T>C" "" "VUS (!)" "" "0000642822" "21" "50" "20" "7106289" "7106289" "subst" "0" "00006" "BMP2_000007" "g.7106289T>C" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline" "" "rs1884302" "0" "" "" "g.7125642T>C" "" "VUS (!)" "" "0000642823" "3" "50" "20" "7106289" "7106289" "subst" "0" "00006" "BMP2_000007" "g.7106289T>C" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline" "" "rs1884302" "0" "" "" "g.7125642T>C" "" "VUS (!)" "" "0000642824" "3" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance, 2nd variant?" "Germline" "" "rs1884302" "0" "" "" "g.7125642=" "" "benign" "" "0000642825" "21" "50" "20" "7106289" "7106289" "subst" "0" "00006" "BMP2_000007" "g.7106289T>C" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline" "" "rs1884302" "0" "" "" "g.7125642T>C" "" "VUS (!)" "" "0000642826" "21" "50" "20" "7106289" "7106289" "subst" "0" "00006" "BMP2_000007" "g.7106289T>C" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline" "" "rs1884302" "0" "" "" "g.7125642T>C" "" "VUS (!)" "" "0000642827" "21" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance, 2nd variant?" "Germline" "" "rs1884302" "0" "" "" "g.7125642=" "" "benign" "" "0000642828" "21" "50" "20" "7106289" "7106289" "subst" "0" "00006" "BMP2_000007" "g.7106289T>C" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline" "" "rs1884302" "0" "" "" "g.7125642T>C" "" "VUS (!)" "" "0000642829" "21" "50" "20" "7106289" "7106289" "subst" "0" "00006" "BMP2_000007" "g.7106289T>C" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline" "" "rs1884302" "0" "" "" "g.7125642T>C" "" "VUS (!)" "" "0000642830" "21" "50" "20" "7106289" "7106289" "subst" "0" "00006" "BMP2_000007" "g.7106289T>C" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline" "" "rs1884302" "0" "" "" "g.7125642T>C" "" "VUS (!)" "" "0000642831" "0" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "" "Germline" "" "rs1884302" "0" "" "" "g.7125642=" "" "benign" "" "0000642832" "0" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "" "Germline" "" "rs1884302" "0" "" "" "g.7125642=" "" "benign" "" "0000642833" "0" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance, 2nd variant?" "Germline" "" "rs1884302" "0" "" "" "g.7125642=" "" "benign" "" "0000642834" "0" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "" "Germline" "" "rs1884302" "0" "" "" "g.7125642=" "" "benign" "" "0000642835" "11" "50" "20" "7106289" "7106289" "subst" "0" "00006" "BMP2_000007" "g.7106289T>C" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "digenic inheritance" "Germline" "" "rs1884302" "0" "" "" "g.7125642T>C" "" "VUS (!)" "" "0000642836" "0" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "" "Germline" "" "rs1884302" "0" "" "" "g.7125642=" "" "benign" "" "0000642837" "0" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "" "Germline" "" "rs1884302" "0" "" "" "g.7125642=" "" "benign" "" "0000642838" "0" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "" "Germline" "" "rs1884302" "0" "" "" "g.7125642=" "" "benign" "" "0000642839" "0" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "" "Germline" "" "rs1884302" "0" "" "" "g.7125642=" "" "benign" "" "0000642840" "0" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "" "Germline" "" "rs1884302" "0" "" "" "g.7125642=" "" "benign" "" "0000642841" "0" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "" "Germline" "" "rs1884302" "0" "" "" "g.7125642=" "" "benign" "" "0000642842" "0" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "" "Germline" "" "rs1884302" "0" "" "" "g.7125642=" "" "benign" "" "0000642843" "0" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "" "Germline" "" "rs1884302" "0" "" "" "g.7125642=" "" "benign" "" "0000642844" "0" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "" "Germline" "" "rs1884302" "0" "" "" "g.7125642=" "" "benign" "" "0000642845" "0" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "" "" "Germline" "" "rs1884302" "0" "" "" "g.7125642=" "" "benign" "" "0000642848" "3" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2018:30038786}" "" "" "" "Germline" "" "rs1884302" "0" "" "" "g.7125642=" "" "benign" "" "0000642865" "3" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2017:28808027}" "" "" "" "Germline" "" "" "0" "" "" "g.7125642=" "" "benign" "" "0000642866" "3" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2017:28808027}" "" "" "" "Germline" "" "" "0" "" "" "g.7125642=" "" "benign" "" "0000642867" "3" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2017:28808027}" "" "" "" "Germline" "" "" "0" "" "" "g.7125642=" "" "benign" "" "0000642868" "3" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2017:28808027}" "" "" "" "Germline" "" "" "0" "" "" "g.7125642=" "" "benign" "" "0000642869" "3" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2017:28808027}" "" "" "" "Germline" "" "" "0" "" "" "g.7125642=" "" "benign" "" "0000642870" "3" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2017:28808027}" "" "" "" "Germline" "" "" "0" "" "" "g.7125642=" "" "benign" "" "0000642871" "3" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2017:28808027}" "" "" "" "Germline" "" "" "0" "" "" "g.7125642=" "" "benign" "" "0000642872" "3" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2017:28808027}" "" "" "" "Germline" "" "" "0" "" "" "g.7125642=" "" "benign" "" "0000642873" "3" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2017:28808027}" "" "" "" "Germline" "" "" "0" "" "" "g.7125642=" "" "benign" "" "0000642874" "3" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2017:28808027}" "" "" "" "Germline" "" "" "0" "" "" "g.7125642=" "" "benign" "" "0000642875" "3" "50" "20" "7106289" "7106289" "subst" "0" "00006" "BMP2_000007" "g.7106289T>C" "" "{PMID:Timberlake 2017:28808027}" "" "" "" "Germline" "" "" "0" "" "" "g.7125642T>C" "" "VUS (!)" "" "0000642876" "3" "10" "20" "7106289" "7106289" "" "0" "00006" "BMP2_000007" "g.7106289=" "" "{PMID:Timberlake 2017:28808027}" "" "" "" "Germline" "" "" "0" "" "" "g.7125642=" "" "benign" "" "0000650830" "1" "10" "20" "6750882" "6750882" "subst" "0.0234907" "03575" "BMP2_000003" "g.6750882T>G" "242/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "242 heterozygous; {DB:CLININrs2273073}" "Germline" "" "rs2273073" "0" "" "" "g.6770235T>G" "" "benign" "" "0000669686" "3" "10" "20" "6750882" "6750882" "subst" "0.0234907" "03575" "BMP2_000003" "g.6750882T>G" "10/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 homozygous; {DB:CLININrs2273073}" "Germline" "" "rs2273073" "0" "" "" "g.6770235T>G" "" "benign" "" "0000693025" "0" "30" "20" "6759466" "6759466" "subst" "0.000320872" "01943" "BMP2_000008" "g.6759466C>T" "" "" "" "BMP2(NM_001200.3):c.921C>T (p.D307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727862" "0" "70" "20" "6759005" "6759005" "subst" "0" "01804" "BMP2_000006" "g.6759005C>T" "" "" "" "BMP2(NM_001200.2):c.460C>T (p.(Arg154*)), BMP2(NM_001200.4):c.460C>T (p.R154*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000855942" "0" "70" "20" "6759005" "6759005" "subst" "0" "02325" "BMP2_000006" "g.6759005C>T" "" "" "" "BMP2(NM_001200.2):c.460C>T (p.(Arg154*)), BMP2(NM_001200.4):c.460C>T (p.R154*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000983936" "0" "50" "20" "6751006" "6751006" "subst" "0" "02329" "BMP2_000005" "g.6751006A>G" "" "" "" "BMP2(NM_001200.4):c.233A>G (p.Y78C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005619" "0" "30" "20" "6751003" "6751003" "subst" "2.06393E-5" "01804" "BMP2_000009" "g.6751003C>G" "" "" "" "BMP2(NM_001200.2):c.230C>G (p.(Pro77Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005620" "0" "50" "20" "6751044" "6751044" "subst" "1.66661E-5" "01804" "BMP2_000010" "g.6751044G>T" "" "" "" "BMP2(NM_001200.2):c.271G>T (p.(Gly91Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005621" "0" "30" "20" "6759041" "6759041" "subst" "0" "01804" "BMP2_000011" "g.6759041A>G" "" "" "" "BMP2(NM_001200.2):c.496A>G (p.(Ser166Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005622" "0" "50" "20" "6759410" "6759410" "subst" "4.46984E-5" "01804" "BMP2_000012" "g.6759410C>T" "" "" "" "BMP2(NM_001200.2):c.865C>T (p.(Arg289Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005623" "0" "50" "20" "6759416" "6759416" "subst" "2.43797E-5" "02325" "BMP2_000013" "g.6759416C>T" "" "" "" "BMP2(NM_001200.4):c.871C>T (p.R291C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043536" "0" "90" "20" "6750829" "6750841" "del" "0" "02325" "BMP2_000014" "g.6750829_6750841del" "" "" "" "BMP2(NM_001200.4):c.56_68delGCGGCGCGGCTGG (p.G19Afs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001045437" "0" "70" "20" "6751101" "6751101" "subst" "0" "00006" "BMP2_000015" "g.6751101C>A" "" "{PMID:Teoh 2020:31678406}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "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 BMP2 ## Count = 62 "{{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}}" "0000132192" "00003423" "90" "460" "0" "460" "0" "c.460C>G" "r.(460c>g)" "p.(Arg154Gly)" "3" "0000132193" "00003423" "90" "584" "0" "584" "0" "c.584G>T" "r.(584g>u)" "p.(Arg195Met)" "3" "0000132233" "00003423" "90" "460" "0" "460" "0" "c.460C>G" "r.(460c>g)" "p.(Arg154Gly)" "3" "0000132242" "00003423" "90" "584" "0" "584" "0" "c.584G>T" "r.(584g>u)" "p.(Arg195Met)" "3" "0000261484" "00003423" "10" "109" "0" "109" "0" "c.109T>G" "r.(?)" "p.(Ser37Ala)" "" "0000570394" "00003423" "10" "109" "0" "109" "0" "c.109T>G" "r.(?)" "p.(Ser37Ala)" "" "0000618305" "00003423" "50" "233" "0" "233" "0" "c.233A>G" "r.(?)" "p.(Tyr78Cys)" "" "0000618306" "00003423" "70" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(Arg154Ter)" "" "0000642818" "00003423" "50" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642819" "00003423" "50" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642820" "00003423" "50" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642821" "00003423" "50" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642822" "00003423" "50" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642823" "00003423" "50" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642824" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642825" "00003423" "50" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642826" "00003423" "50" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642827" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642828" "00003423" "50" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642829" "00003423" "50" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642830" "00003423" "50" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642831" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642832" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642833" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642834" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642835" "00003423" "50" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642836" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642837" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642838" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642839" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642840" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642841" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642842" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642843" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642844" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642845" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642848" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642865" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642866" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642867" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642868" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642869" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642870" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642871" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642872" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642873" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642874" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642875" "00003423" "50" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000642876" "00003423" "10" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000650830" "00003423" "10" "109" "0" "109" "0" "c.109T>G" "r.(?)" "p.(Ser37Ala)" "" "0000669686" "00003423" "10" "109" "0" "109" "0" "c.109T>G" "r.(?)" "p.(Ser37Ala)" "" "0000693025" "00003423" "30" "921" "0" "921" "0" "c.921C>T" "r.(?)" "p.(Asp307=)" "" "0000727862" "00003423" "70" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(Arg154Ter)" "" "0000855942" "00003423" "70" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(Arg154Ter)" "" "0000983936" "00003423" "50" "233" "0" "233" "0" "c.233A>G" "r.(?)" "p.(Tyr78Cys)" "" "0001005619" "00003423" "30" "230" "0" "230" "0" "c.230C>G" "r.(?)" "p.(Pro77Arg)" "" "0001005620" "00003423" "50" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Cys)" "" "0001005621" "00003423" "30" "496" "0" "496" "0" "c.496A>G" "r.(?)" "p.(Ser166Gly)" "" "0001005622" "00003423" "50" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Arg289Trp)" "" "0001005623" "00003423" "50" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Arg291Cys)" "" "0001043536" "00003423" "90" "56" "0" "68" "0" "c.56_68del" "r.(?)" "p.(Gly19Alafs*28)" "" "0001045437" "00003423" "70" "328" "0" "328" "0" "c.328C>A" "r.(?)" "p.(Arg110Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 48 "{{screeningid}}" "{{variantid}}" "0000081536" "0000132192" "0000081537" "0000132193" "0000081570" "0000132233" "0000081578" "0000132242" "0000287048" "0000642818" "0000287049" "0000642819" "0000287050" "0000642820" "0000287051" "0000642821" "0000287052" "0000642822" "0000287053" "0000642823" "0000287054" "0000642824" "0000287055" "0000642825" "0000287056" "0000642826" "0000287057" "0000642827" "0000287058" "0000642828" "0000287059" "0000642829" "0000287060" "0000642830" "0000287063" "0000642831" "0000287064" "0000642832" "0000287065" "0000642833" "0000287066" "0000642834" "0000287067" "0000642835" "0000287068" "0000642836" "0000287069" "0000642837" "0000287070" "0000642838" "0000287071" "0000642839" "0000287072" "0000642840" "0000287073" "0000642841" "0000287074" "0000642842" "0000287075" "0000642843" "0000287076" "0000642844" "0000287077" "0000642845" "0000287078" "0000642848" "0000287079" "0000642865" "0000287080" "0000642866" "0000287081" "0000642867" "0000287082" "0000642868" "0000287083" "0000642869" "0000287084" "0000642870" "0000287085" "0000642871" "0000287086" "0000642872" "0000287087" "0000642873" "0000287088" "0000642874" "0000287089" "0000642875" "0000287090" "0000642876" "0000294141" "0000650830" "0000305998" "0000669686" "0000467588" "0001045437"