### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SPARC) # 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}}" "SPARC" "secreted protein acidic and cysteine rich" "5" "q33.1" "unknown" "NC_000005.9" "UD_136092169064" "" "https://www.LOVD.nl/SPARC" "Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases \r\nOsteogenesis Imperfecta Federation Europe (OIFE) " "1" "11219" "6678" "182120" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.\r\nThis database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)" "" "g" "https://databases.lovd.nl/shared/refseq/SPARC_codingDNA.html" "1" "" "
Osteogenesis Imperfecta Variant Database\r\n
\r\n\r\n
" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00085" "2022-04-05 13:12:56" "00000" "2025-11-01 13:22:20" ## 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}}" "00020100" "SPARC" "secreted protein, acidic, cysteine-rich (osteonectin)" "001" "NM_003118.3" "" "NP_003109.1" "" "" "" "-203" "3387" "912" "151066615" "151040657" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04254" "CLP" "cleft lip, cleft palate (CLP)" "" "" "" "" "" "00006" "2015-05-08 09:59:28" "00006" "2015-05-08 10:00:15" "04672" "OI17" "osteogenesis imperfecta, type XVII (OI17)" "AR" "616507" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-05-16 13:25:25" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SPARC" "04672" "SPARC" "05296" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00231413" "" "" "" "3" "" "03278" "{PMID:Cox 2019:31215115}" "3-generation family, 3 affected (2F, M)" "F;M" "" "Colombia" "" "0" "" "" "" "Fam22" "00295530" "" "" "" "1" "" "03566" "" "" "" "" "" "" "0" "" "" "" "" "00372764" "" "" "" "1" "" "00085" "{PMID:Mendoza-Londono 2015:26027498}" "parents non-consanguineous but were form the same geographically restricted area" "" "no" "" "" "0" "" "" "Africa-N" "Individual 1" "00372765" "" "" "" "1" "" "00085" "{PMID:Mendoza-Londono 2015:26027498}" "" "" "yes" "India" "" "0" "" "" "" "Individual 2" "00372766" "" "" "" "2" "" "00085" "{PMID:Alazami 2016:27023906}" "index has an affected sibling who is homozygous for the same sequence variant (12DG2243)" "" "" "Sudan" "" "0" "" "" "" "Fam38Pat5090066" "00435091" "" "" "" "1" "" "04465" "{PMID:Selina 2023:36995644}" "Patient has severe OI according to paper" "M" "yes" "India" ">03y" "" "" "" "" "Pat1" "00435093" "" "" "" "1" "" "04465" "{PMID: Anna Durkin 2022:34462290}" "" "F" "no" "Slovakia (Slovak Republic)" ">19y" "" "" "" "" "Pat1" "00435094" "" "" "" "1" "" "04465" "{PMID: Anna Durkin 2022:34462290}" "" "M" "yes" "Iraq" ">11y" "" "" "" "Kurdistan" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00231413" "04254" "00295530" "00198" "00372764" "05296" "00372765" "05296" "00372766" "05296" "00435091" "05296" "00435093" "04672" "00435094" "04672" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04254, 04672, 05296 ## Count = 7 "{{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}}" "0000173805" "04254" "00231413" "03278" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268040" "05296" "00372764" "00085" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268041" "05296" "00372765" "00085" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268042" "05296" "00372766" "00085" "Familial, autosomal dominant" "" "see paper; ..., marked joint laxity, progressive scoliosis, short stature, normal cognition with mild dysmorphic features (short neck, low-set ears and blue sclera, a narrow palate, exces- sive dental caries (easily broken teeth) and ulcers on the tongue) and pectus excavatum" "" "" "" "" "" "" "" "" "OI17" "OI/EDS" "" "0000325330" "05296" "00435091" "04465" "Familial, autosomal recessive" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325332" "04672" "00435093" "04465" "Familial, autosomal recessive" "19y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325333" "04672" "00435094" "04465" "Familial, autosomal recessive" "11y" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000232512" "00231413" "1" "03278" "03278" "2019-05-02 18:06:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000296700" "00295530" "1" "03566" "03566" "2020-03-17 13:20:54" "" "" "SEQ-NG" "DNA" "" "" "0000373997" "00372764" "1" "00085" "00085" "2021-05-11 16:48:16" "" "" "PCR;SEQ" "DNA" "" "WES" "0000373998" "00372765" "1" "00085" "00085" "2021-05-11 16:48:16" "" "" "PCR;SEQ" "DNA" "" "WES" "0000373999" "00372766" "1" "00085" "00085" "2021-05-11 16:48:16" "00006" "2025-06-07 12:24:11" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000436563" "00435091" "1" "04465" "04465" "2023-05-08 16:28:21" "" "" "?" "?" "" "" "0000436565" "00435093" "1" "04465" "04465" "2023-05-09 13:44:17" "" "" "SEQ-NG" "DNA" "blood" "Whole exome sequencing (WES)" "0000436566" "00435094" "1" "04465" "04465" "2023-05-09 13:47:26" "" "" "SEQ-NG" "DNA" "blood" "Whole Exome Sequencing (WES)" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000232512" "FST" "0000296700" "SPARC" ## 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 = 24 "{{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}}" "0000480537" "0" "70" "5" "151043709" "151043709" "subst" "2.03064E-5" "03278" "SPARC_000006" "g.151043709G>C" "" "{PMID:Cox 2019:31215115}" "" "" "" "Germline" "" "" "0" "" "" "g.151664148G>C" "" "VUS" "" "0000653393" "0" "90" "5" "151047116" "151047116" "subst" "4.06316E-6" "03566" "SPARC_000001" "g.151047116C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.151667555C>T" "" "pathogenic" "" "0000720307" "0" "10" "5" "151043103" "151043103" "subst" "0.210211" "02329" "SPARC_000005" "g.151043103G>C" "" "" "" "SPARC(NM_001309444.2):c.939C>G (p.L313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000720308" "0" "30" "5" "151045923" "151045923" "subst" "0.00415797" "01943" "SPARC_000004" "g.151045923C>T" "" "" "" "SPARC(NM_003118.3):c.733G>A (p.G245R), SPARC(NM_003118.4):c.733G>A (p.G245R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000784680" "3" "99" "5" "151047116" "151047116" "subst" "4.06316E-6" "00085" "SPARC_000001" "g.151047116C>T" "" "{PMID:Mendoza-Londono 2015:26027498}" "" "" "" "Germline" "" "" "0" "" "" "g.151667555C>T" "" "pathogenic (recessive)" "" "0000784681" "3" "99" "5" "151043744" "151043744" "subst" "0" "00085" "SPARC_000002" "g.151043744C>T" "" "{PMID:Mendoza-Londono 2015:26027498}" "" "" "" "Germline" "" "" "0" "" "" "g.151664183C>T" "" "pathogenic (recessive)" "" "0000784682" "3" "99" "5" "151055692" "151055692" "subst" "0" "00085" "SPARC_000003" "g.151055692C>G" "" "{PMID:Alazami 2016:27023906}" "" "" "" "Germline" "yes" "" "0" "" "" "g.151676131C>G" "" "pathogenic (recessive)" "" "0000801982" "0" "10" "5" "151054165" "151054165" "subst" "0.00332821" "02329" "SPARC_000007" "g.151054165C>A" "" "" "" "SPARC(NM_003118.4):c.120+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886710" "0" "10" "5" "151043670" "151043670" "subst" "0.0035745" "02329" "SPARC_000008" "g.151043670G>A" "" "" "" "SPARC(NM_003118.4):c.861C>T (p.A287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886711" "0" "10" "5" "151045923" "151045923" "subst" "0.00415797" "02329" "SPARC_000004" "g.151045923C>T" "" "" "" "SPARC(NM_003118.3):c.733G>A (p.G245R), SPARC(NM_003118.4):c.733G>A (p.G245R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912271" "0" "10" "5" "151055695" "151055695" "subst" "0.00587599" "02329" "SPARC_000009" "g.151055695G>A" "" "" "" "SPARC(NM_003118.4):c.55C>T (p.P19S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924283" "0" "30" "5" "151055705" "151055705" "subst" "0" "02329" "SPARC_000010" "g.151055705G>A" "" "" "" "SPARC(NM_003118.4):c.45C>T (p.A15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927581" "3" "90" "5" "151049224" "151049224" "subst" "0" "04465" "SPARC_000011" "g.151049224C>T" "" "{PMID:Selina 2023:36995644}" "" "" "" "Germline" "" "" "0" "" "" "g.151669663C>T" "" "pathogenic (recessive)" "" "0000927583" "3" "90" "5" "151052753" "151052753" "subst" "0" "04465" "SPARC_000012" "g.151052753G>A" "" "{PMID: Anna Durkin 2022:34462290}" "" "" "" "Germline" "" "" "0" "" "" "g.151673192G>A" "" "pathogenic (recessive)" "" "0000927584" "3" "90" "5" "151055692" "151055692" "subst" "0" "04465" "SPARC_000013" "g.151055692C>A" "" "{PMID: Anna Durkin 2022:34462290}" "" "" "" "Germline" "" "" "0" "" "" "g.151676131C>A" "" "pathogenic (recessive)" "" "0000963538" "0" "30" "5" "151051340" "151051340" "subst" "0" "02329" "SPARC_000014" "g.151051340C>G" "" "" "" "SPARC(NM_003118.4):c.209-85G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976674" "0" "50" "5" "151052741" "151052741" "subst" "0.000369537" "01804" "SPARC_000015" "g.151052741C>T" "" "" "" "SPARC(NM_003118.4):c.157G>A (p.(Gly53Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035041" "0" "30" "5" "151043072" "151043072" "subst" "0" "01804" "SPARC_000016" "g.151043072T>C" "" "" "" "SPARC(NM_001309444.2):c.970A>G (p.(Met324Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035042" "0" "50" "5" "151043765" "151043765" "subst" "4.47184E-5" "01804" "SPARC_000017" "g.151043765G>A" "" "" "" "SPARC(NM_003118.4):c.766C>T (p.(Arg256Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035043" "0" "50" "5" "151045976" "151045976" "subst" "0" "01804" "SPARC_000018" "g.151045976T>C" "" "" "" "SPARC(NM_003118.4):c.680A>G (p.(Tyr227Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035044" "0" "50" "5" "151045999" "151045999" "subst" "0.000568657" "01804" "SPARC_000019" "g.151045999G>T" "" "" "" "SPARC(NM_003118.4):c.657C>A (p.(Asp219Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035045" "0" "50" "5" "151046042" "151046042" "subst" "1.21944E-5" "01804" "SPARC_000020" "g.151046042C>A" "" "" "" "SPARC(NM_003118.4):c.614G>T (p.(Arg205Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035046" "0" "50" "5" "151047030" "151047030" "subst" "0.000227496" "01804" "SPARC_000021" "g.151047030G>A" "" "" "" "SPARC(NM_003118.4):c.583C>T (p.(Arg195Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052172" "0" "50" "5" "151051160" "151051160" "subst" "0" "01804" "SPARC_000022" "g.151051160G>A" "" "" "" "SPARC(NM_003118.4):c.304C>T (p.(Pro102Ser))" "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 SPARC ## Count = 24 "{{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}}" "0000480537" "00020100" "70" "822" "0" "822" "0" "c.822C>G" "r.(?)" "p.(Asp274Glu)" "" "0000653393" "00020100" "90" "497" "0" "497" "0" "c.497G>A" "r.(?)" "p.(Arg166His)" "" "0000720307" "00020100" "10" "941" "0" "941" "0" "c.*29C>G" "r.(=)" "p.(=)" "" "0000720308" "00020100" "30" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Gly245Arg)" "" "0000784680" "00020100" "99" "497" "0" "497" "0" "c.497G>A" "r.(?)" "p.(Arg166His)" "7" "0000784681" "00020100" "99" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Glu263Lys)" "9" "0000784682" "00020100" "99" "57" "1" "57" "1" "c.57+1G>C" "r.-13_57del" "p.0?" "2i" "0000801982" "00020100" "10" "120" "8" "120" "8" "c.120+8G>T" "r.(=)" "p.(=)" "" "0000886710" "00020100" "10" "861" "0" "861" "0" "c.861C>T" "r.(?)" "p.(Ala287=)" "" "0000886711" "00020100" "10" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Gly245Arg)" "" "0000912271" "00020100" "10" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Pro19Ser)" "" "0000924283" "00020100" "30" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(Ala15=)" "" "0000927581" "00020100" "90" "451" "1" "451" "1" "c.451+1G>A" "r.spl?" "p.?" "" "0000927583" "00020100" "90" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Gln49*)" "" "0000927584" "00020100" "90" "57" "1" "57" "1" "c.57+1G>T" "r.spl" "p.?" "" "0000963538" "00020100" "30" "209" "-85" "209" "-85" "c.209-85G>C" "r.(=)" "p.(=)" "" "0000976674" "00020100" "50" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Gly53Arg)" "" "0001035041" "00020100" "30" "972" "0" "972" "0" "c.*60A>G" "r.(=)" "p.(=)" "" "0001035042" "00020100" "50" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Arg256Cys)" "" "0001035043" "00020100" "50" "680" "0" "680" "0" "c.680A>G" "r.(?)" "p.(Tyr227Cys)" "" "0001035044" "00020100" "50" "657" "0" "657" "0" "c.657C>A" "r.(?)" "p.(Asp219Glu)" "" "0001035045" "00020100" "50" "614" "0" "614" "0" "c.614G>T" "r.(?)" "p.(Arg205Leu)" "" "0001035046" "00020100" "50" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Arg195Trp)" "" "0001052172" "00020100" "50" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Pro102Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000232512" "0000480537" "0000296700" "0000653393" "0000373997" "0000784680" "0000373998" "0000784681" "0000373999" "0000784682" "0000436563" "0000927581" "0000436565" "0000927583" "0000436566" "0000927584"