### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BMP6) # 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}}" "BMP6" "bone morphogenetic protein 6" "6" "p24-p23" "unknown" "NC_000006.11" "UD_132438301473" "" "http://www.LOVD.nl/BMP6" "" "1" "1073" "654" "112266" "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/BMP6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-14 14:56:02" "00000" "2025-05-05 21:14:00" ## 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}}" "00003428" "BMP6" "bone morphogenetic protein 6" "001" "NM_001718.4" "" "NP_001709.1" "" "" "" "-178" "2927" "1542" "7727011" "7881961" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05155" "OPLL" "ossification, posterior longitudinal ligament spine (OPLL)" "" "" "" "" "" "00006" "2016-04-14 16:02:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00081429" "" "" "" "1" "" "01783" "" "" "" "" "China" "" "0" "" "" "Han" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00081429" "05155" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05155 ## Count = 1 "{{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}}" "0000061031" "05155" "00081429" "01783" "Unknown" "" "thoracic ossification of the ligamentum flavum,\r\nlong regional at the thoracic spine" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081558" "00081429" "1" "01783" "01783" "2016-10-13 16:36:06" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000081558" "BMP6" ## 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 = 20 "{{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}}" "0000132221" "0" "50" "6" "7727580" "7727580" "subst" "4.31995E-6" "01783" "BMP6_000001" "g.7727580C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.7727347C>T" "" "VUS" "" "0000529866" "0" "50" "6" "7727203" "7727203" "subst" "0" "02327" "TXNDC5_000002" "g.7727203G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7726970G>A" "" "VUS" "" "0000529867" "0" "10" "6" "7862589" "7862589" "subst" "0.0387389" "02327" "TXNDC5_000003" "g.7862589C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7862356C>T" "" "benign" "" "0000610529" "0" "10" "6" "7845577" "7845577" "subst" "0.101355" "02327" "TXNDC5_000004" "g.7845577C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7845344C>T" "" "benign" "" "0000655666" "0" "10" "6" "7727271" "7727271" "subst" "0.598993" "02327" "TXNDC5_000005" "g.7727271G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7727038G>A" "" "benign" "" "0000721109" "0" "50" "6" "7727468" "7727468" "subst" "0.000114192" "02327" "TXNDC5_000006" "g.7727468C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802748" "0" "50" "6" "8041405" "8041405" "subst" "4.10472E-6" "01943" "TXNDC5_000007" "g.8041405T>C" "" "" "" "BLOC1S5(NM_001199322.1):c.100A>G (p.M34V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887474" "0" "30" "6" "7880316" "7880316" "subst" "0.000600981" "02327" "TXNDC5_000008" "g.7880316C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924580" "0" "30" "6" "8016071" "8016071" "subst" "0.00266404" "02326" "TXNDC5_000009" "g.8016071G>T" "" "" "" "BLOC1S5(NM_001199322.1):c.193-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948778" "0" "30" "6" "7727668" "7727668" "subst" "0.00285835" "02327" "TXNDC5_000010" "g.7727668C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948780" "0" "30" "6" "8016007" "8016007" "subst" "0.00213266" "02326" "TXNDC5_000011" "g.8016007T>C" "" "" "" "BLOC1S5(NM_001199322.1):c.247A>G (p.N83D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948781" "0" "30" "6" "8064583" "8064583" "subst" "0.000128085" "02326" "TXNDC5_000012" "g.8064583A>T" "" "" "" "BLOC1S5(NM_201280.3):c.27T>A (p.P9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964270" "0" "50" "6" "7727588" "7727588" "subst" "6.88687E-5" "02327" "TXNDC5_000013" "g.7727588C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964271" "0" "10" "6" "7910948" "7910950" "del" "0" "02329" "TXNDC5_000014" "g.7910948_7910950del" "" "" "" "TXNDC5(NM_030810.5):c.76_78delCTG (p.L26del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964285" "0" "30" "6" "8054619" "8054619" "subst" "0" "02326" "TXNDC5_000015" "g.8054619T>C" "" "" "" "BLOC1S5(NM_001199322.1):c.-100-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977373" "0" "10" "6" "7862556" "7862556" "subst" "0.0320688" "02327" "TXNDC5_000016" "g.7862556C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000995909" "0" "30" "6" "7727525" "7727525" "subst" "0.00414398" "01804" "TXNDC5_000017" "g.7727525C>G" "" "" "" "BMP6(NM_001718.4):c.337C>G (p.(Gln113Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025281" "0" "70" "6" "7727475" "7727475" "subst" "0.00333315" "02327" "TXNDC5_000018" "g.7727475T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025282" "0" "10" "6" "7862631" "7862631" "subst" "0.468357" "02327" "TXNDC5_000019" "g.7862631G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035930" "0" "30" "6" "7727305" "7727305" "subst" "0" "02327" "TXNDC5_000020" "g.7727305C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 BMP6 ## Count = 20 "{{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}}" "0000132221" "00003428" "50" "392" "0" "392" "0" "c.392C>T" "r.(r.392c>u)" "p.(Ser131Phe)" "1" "0000529866" "00003428" "50" "15" "0" "15" "0" "c.15G>A" "r.(?)" "p.(Gly5=)" "" "0000529867" "00003428" "10" "1062" "0" "1062" "0" "c.1062C>T" "r.(?)" "p.(Asp354=)" "" "0000610529" "00003428" "10" "857" "12" "857" "12" "c.857+12C>T" "r.(=)" "p.(=)" "" "0000655666" "00003428" "10" "83" "0" "83" "0" "c.83G>A" "r.(?)" "p.(Arg28Gln)" "" "0000721109" "00003428" "50" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Trp)" "" "0000802748" "00003428" "50" "162371" "0" "162371" "0" "c.*160829T>C" "r.(=)" "p.(=)" "" "0000887474" "00003428" "30" "1374" "0" "1374" "0" "c.1374C>T" "r.(?)" "p.(His458=)" "" "0000924580" "00003428" "30" "137037" "0" "137037" "0" "c.*135495G>T" "r.(=)" "p.(=)" "" "0000948778" "00003428" "30" "480" "0" "480" "0" "c.480C>T" "r.(?)" "p.(=)" "" "0000948780" "00003428" "30" "136973" "0" "136973" "0" "c.*135431T>C" "r.(=)" "p.(=)" "" "0000948781" "00003428" "30" "185549" "0" "185549" "0" "c.*184007A>T" "r.(=)" "p.(=)" "" "0000964270" "00003428" "50" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Leu134Val)" "" "0000964271" "00003428" "10" "31914" "0" "31916" "0" "c.*30372_*30374del" "r.(=)" "p.(=)" "" "0000964285" "00003428" "30" "175585" "0" "175585" "0" "c.*174043T>C" "r.(=)" "p.(=)" "" "0000977373" "00003428" "10" "1029" "0" "1029" "0" "c.1029C>T" "r.(?)" "p.(=)" "" "0000995909" "00003428" "30" "337" "0" "337" "0" "c.337C>G" "r.(?)" "p.(Gln113Glu)" "" "0001025281" "00003428" "70" "287" "0" "287" "0" "c.287T>C" "r.(?)" "p.(Leu96Pro)" "" "0001025282" "00003428" "10" "1104" "0" "1104" "0" "c.1104G>C" "r.(?)" "p.(=)" "" "0001035930" "00003428" "30" "117" "0" "117" "0" "c.117C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000081558" "0000132221"