### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BMP10) # 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}}" "BMP10" "bone morphogenetic protein 10" "2" "p13.2" "unknown" "LRG_403" "UD_134712813617" "" "http://www.LOVD.nl/BMP10" "" "1" "20869" "27302" "608748" "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/BMP10_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-14 11:36:18" "00000" "2024-08-28 13:16:32" ## 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}}" "00003432" "BMP10" "bone morphogenetic protein 10" "001" "NM_014482.1" "" "NP_055297.1" "" "" "" "-159" "1425" "1275" "69098649" "69092613" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01692" "-" "cardiomyopathy, diltaed, with hypergonadotropic hypogonadism (Malouf syndrome)" "AD" "212112" "" "" "" "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" "" "" "05985" "hypertension" "hypertension" "AD" "" "" "" "" "00006" "2021-11-08 09:15:28" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00081433" "" "" "" "1" "" "01783" "" "" "" "" "China" "" "0" "" "" "Han" "" "00390047" "" "" "" "1" "" "00006" "{PMID: Gelinas 2020:33187088}" "" "F" "" "Netherlands" "18y" "0" "" "" "" "P2" "00420368" "" "" "" "1" "" "03465" "" "" "" "no" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00081433" "05155" "00390047" "05985" "00420368" "01692" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01692, 05155, 05985 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000061035" "05155" "00081433" "01783" "Unknown" "" "racic ossification of the ligamentum flavum,\r\nlong regional at the thoracic spine" "" "" "" "" "" "" "" "" "" "0000283587" "05985" "00390047" "00006" "Unknown" "18y" "36m-severe pulmonary arterial hypertension; 18y-deseased" "" "" "" "" "" "" "" "" "hypertension" "0000311636" "01692" "00420368" "03465" "Familial, autosomal dominant" "" "dilated cardiomyopathy" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081566" "00081433" "1" "01783" "01783" "2016-10-14 03:39:35" "" "" "SEQ-NG" "DNA" "blood" "" "0000391288" "00390047" "1" "00006" "00006" "2021-11-08 13:37:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000421677" "00420368" "1" "03465" "03465" "2022-11-02 03:33:37" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000081566" "BMP10" ## 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 = 6 "{{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}}" "0000132230" "0" "50" "2" "69093687" "69093687" "subst" "6.21339E-5" "01783" "BMP10_000001" "g.69093687C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.68866555C>T" "" "VUS" "" "0000261482" "0" "10" "2" "69098464" "69098464" "subst" "0.00127356" "02326" "BMP10_000003" "g.69098464G>A" "" "" "" "BMP10(NM_014482.1):c.27C>T (p.C9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68871332G>A" "" "benign" "" "0000261483" "0" "10" "2" "69093413" "69093413" "subst" "0.00711253" "02326" "BMP10_000002" "g.69093413G>A" "" "" "" "BMP10(NM_014482.1):c.625C>T (p.R209C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68866281G>A" "" "benign" "" "0000821025" "0" "70" "2" "69098244" "69098244" "subst" "4.06369E-6" "00006" "BMP10_000004" "g.69098244C>T" "" "{PMID:Gelinas 2020:33187088}" "" "" "father not available" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000896420" "11" "90" "2" "69098325" "69098325" "subst" "0" "03465" "BMP10_000005" "g.69098325G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.68871193G>A" "" "pathogenic" "ACMG" "0000992985" "0" "50" "2" "69093292" "69093292" "subst" "0" "02325" "BMP10_000006" "g.69093292T>A" "" "" "" "BMP10(NM_014482.3):c.746A>T (p.H249L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes BMP10 ## Count = 6 "{{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}}" "0000132230" "00003432" "50" "351" "0" "351" "0" "c.351G>A" "r.(351g>a)" "p.(Pro117=)" "2" "0000261482" "00003432" "10" "27" "0" "27" "0" "c.27C>T" "r.(?)" "p.(Cys9=)" "" "0000261483" "00003432" "10" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000821025" "00003432" "70" "247" "0" "247" "0" "c.247G>A" "r.(?)" "p.(Glu83Lys)" "" "0000896420" "00003432" "90" "166" "0" "166" "0" "c.166C>T" "r.(166c>u)" "p.(Gln56*)" "" "0000992985" "00003432" "50" "746" "0" "746" "0" "c.746A>T" "r.(?)" "p.(His249Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000081566" "0000132230" "0000391288" "0000821025" "0000421677" "0000896420"