### LOVD-version 3000-210 ### 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "BMPR2" "bone morphogenetic protein receptor, type II (serine/threonine kinase)" "2" "q33-q34" "unknown" "NG_009363.1" "UD_139310354289" "" "" "" "1" "1" "1078" "659" "600799" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 19:04:33" "" "" "00000" "2014-04-18 19:04:33" "" ## 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}}" "{{iNote}}" "{{chrom}}" "00003269" "BMPR2" "bone morphogenetic protein receptor, type II (serine/threonine kinase)" "001" "NM_001204.6" "" "NP_001195.2" "" "" "" "-1148" "10922" "3117" "203241050" "203432474" "00000" "2014-04-18 19:04:33" "" "" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 16 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000002821" "0" "99" "2" "203329673" "203329673" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 12:07:47" "BMPR2_000015" "g.203329673C>G" "" "{PMID:10973254:10973254}" "" "rs137852742" "subst" "0" "; clinvar;" "5.500" "" "" "" "" "MSCV_0002821" "" "0000002822" "0" "99" "2" "203332348" "203332348" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 12:01:53" "BMPR2_000014" "g.203332348T>G" "" "{PMID:10973254:10973254}" "" "rs137852743" "subst" "0" "; clinvar;" "1.250" "" "" "" "" "MSCV_0002822" "" "0000002823" "0" "99" "2" "203332361" "203332361" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:43:27" "BMPR2_000010" "g.203332361T>A" "" "{PMID:11115378:11115378}" "" "rs137852750" "subst" "0" "; clinvar;" "5.380" "" "" "" "" "MSCV_0002823" "" "0000002824" "0" "99" "2" "203332361" "203332361" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:43:28" "BMPR2_000011" "g.203332361T>C" "" "{PMID:11115378:11115378}" "" "rs137852750" "subst" "0" "; clinvar;" "5.380" "" "" "" "" "MSCV_0002824" "" "0000002825" "0" "99" "2" "203378530" "203378530" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:43:29" "BMPR2_000012" "g.203378530C>A" "" "{PMID:10903931:10903931}" "" "rs137852747" "subst" "0" "; clinvar;" "3.870" "" "" "" "" "MSCV_0002825" "" "0000002826" "0" "99" "2" "203383554" "203383554" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:43:30" "BMPR2_000013" "g.203383554C>T" "" "{PMID:11015450:11015450};{PMID:11115378:11115378};{PMID:12358323:12358323}" "" "rs137852753" "subst" "0" "; clinvar;" "6.050" "" "" "" "" "MSCV_0002826" "" "0000002827" "0" "99" "2" "203395543" "203395543" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:40:32" "BMPR2_000001" "g.203395543C>T" "" "{PMID:11115378:11115378}" "" "rs137852751" "subst" "0" "; clinvar;" "4.810" "" "" "" "" "MSCV_0002827" "" "0000002828" "0" "99" "2" "203395589" "203395589" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:40:32" "BMPR2_000002" "g.203395589G>A" "" "{PMID:10973254:10973254}" "" "rs137852744" "subst" "0" "; clinvar;" "5.700" "" "" "" "" "MSCV_0002828" "" "0000002829" "0" "99" "2" "203417479" "203417479" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-02-26 02:47:34" "BMPR2_000003" "g.203417479A>G" "" "{PMID:10973254:10973254}" "" "rs137852745" "subst" "0" "; clinvar;" "5.520" "" "" "" "" "MSCV_0002829" "" "0000002830" "0" "99" "2" "203417496" "203417496" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-09-07 21:02:00" "BMPR2_000004" "g.203417496C>T" "" "{PMID:10903931:10903931};{PMID:3291115:3291115}" "" "rs137852746" "subst" "0" "; clinvar;" "4.580" "" "" "" "" "MSCV_0002830" "" "0000002831" "0" "99" "2" "203417497" "203417497" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-02-09 18:27:36" "BMPR2_000005" "g.203417497G>A" "" "{PMID:3291115:3291115};{PMID:10903931:10903931}" "" "rs137852749" "subst" "0" "; clinvar;" "5.520" "" "" "" "" "MSCV_0002831" "" "0000002832" "0" "99" "2" "203421005" "203421005" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-02-26 02:47:39" "BMPR2_000006" "g.203421005C>T" "" "{PMID:10903931:10903931}" "" "rs137852748" "subst" "0" "; clinvar;" "6.170" "" "" "" "" "MSCV_0002832" "" "0000002833" "0" "99" "2" "203421083" "203421083" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-02-26 02:47:43" "BMPR2_000007" "g.203421083C>T" "" "{PMID:10973254:10973254}" "" "rs137852741" "subst" "0" "; clinvar;" "5.300" "" "" "" "" "MSCV_0002833" "" "0000002834" "0" "99" "2" "203421084" "203421084" "subst" "51" "0.000153775" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-06-02 13:09:59" "BMPR2_000008" "g.203421084G>A" "" "{PMID:15965979:15965979}" "" "rs137852752" "subst" "0" "; clinvar;" "6.080" "" "" "" "" "MSCV_0002834" "" "0000002835" "0" "99" "2" "203421084" "203421084" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:40:40" "BMPR2_000009" "g.203421084G>C" "" "{PMID:15965979:15965979}" "" "rs137852752" "subst" "0" "; clinvar;" "6.080" "" "" "" "" "MSCV_0002835" "" "0000023591" "0" "00" "2" "203432174" "203432174" "subst" "33" "0" "00001" "9" "00001" "2018-11-26 09:58:54" "00000" "2018-11-26 10:01:12" "BMPR2_000016" "g.203432174T>G" "" "" "" "" "" "0" ";" "" "" "" "" "" "" "" ## 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. ## Count = 16 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000002821" "00003269" "99" "218" "0" "218" "0" "c.218C>G" "2/12" "p.(Ser73*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000002822" "00003269" "99" "354" "0" "354" "0" "c.354T>G" "3/12" "p.(Cys118Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000002823" "00003269" "99" "367" "0" "367" "0" "c.367T>A" "3/12" "p.(Cys123Ser)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000002824" "00003269" "99" "367" "0" "367" "0" "c.367T>C" "3/12" "p.(Cys123Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000002825" "00003269" "99" "507" "0" "507" "0" "c.507C>A" "4/12" "p.(Cys169*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000002826" "00003269" "99" "631" "0" "631" "0" "c.631C>T" "6/12" "p.(Arg211*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000002827" "00003269" "99" "994" "0" "994" "0" "c.994C>T" "8/12" "p.(Arg332*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000002828" "00003269" "99" "1040" "0" "1040" "0" "c.1040G>A" "8/12" "p.(Cys347Tyr)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000002829" "00003269" "99" "1454" "0" "1454" "0" "c.1454A>G" "11/12" "p.(Asp485Gly)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000002830" "00003269" "99" "1471" "0" "1471" "0" "c.1471C>T" "11/12" "p.(Arg491Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000002831" "00003269" "99" "1472" "0" "1472" "0" "c.1472G>A" "11/12" "p.(Arg491Gln)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000002832" "00003269" "99" "2617" "0" "2617" "0" "c.2617C>T" "12/13" "p.(Arg873*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000002833" "00003269" "99" "2695" "0" "2695" "0" "c.2695C>T" "12/13" "p.(Arg899*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000002834" "00003269" "99" "2696" "0" "2696" "0" "c.2696G>A" "12/13" "p.(Arg899Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002835" "00003269" "99" "2696" "0" "2696" "0" "c.2696G>C" "12/13" "p.(Arg899Pro)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000023591" "00003269" "00" "10622" "0" "10622" "0" "c.*7505T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0