### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OSTM1) # 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}}" "OSTM1" "osteopetrosis associated transmembrane protein 1" "6" "q21" "unknown" "NG_007262.1" "UD_132118415876" "" "https://www.LOVD.nl/OSTM1" "" "1" "21652" "28962" "607649" "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/OSTM1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-03-02 13:11:30" "00000" "2025-02-07 18:57:27" ## 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}}" "00015500" "OSTM1" "osteopetrosis associated transmembrane protein 1" "001" "NM_014028.3" "" "NP_054747.2" "" "" "" "-86" "4381" "1005" "108395941" "108362613" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00433" "NBIA1" "neurodegeneration, with brain iron accumulation, type 1 (NBIA)" "AR" "234200" "" "" "" "00006" "2014-06-24 21:43:21" "00006" "2021-12-10 21:51:32" "01993" "OPTB5" "osteopetrosis, autosomal recessive, type 5 (OPTB-5)" "AR" "259720" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05747" "OPTB" "osteopetrosis, autosomal recessive (OPTB)" "AD" "" "" "" "" "00006" "2020-05-18 09:28:28" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "OSTM1" "01993" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00100446" "" "" "" "1" "" "01918" "" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00293952" "" "" "" "56" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331539" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "17DG0812" "00374430" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5835" "00376333" "" "" "" "1" "" "00559" "{PMID:Liu 2021:34753502}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "(Pakistan)" "" "0" "yes" "" "" "FamOP8" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00100446" "00433" "00293952" "00198" "00331539" "05517" "00374430" "00198" "00376333" "05747" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00433, 01993, 05517, 05747 ## Count = 4 "{{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}}" "0000078710" "00433" "00100446" "01918" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000249731" "05517" "00331539" "00000" "Familial, autosomal recessive" "" "Hepatosplenomegaly, Anemia, Micrognathia, High palate, Hypertelorism, Gingival overgroYes" "" "" "" "" "" "" "" "" "Osteopetrosis and related disorders" "skeletal dysplasia" "" "0000269640" "00198" "00374430" "00006" "Familial, autosomal recessive" "" "Encephalopathy, seizures, spasticity, delayed motor development, global developmental delay, failure to thrive, microcephaly, septicemia and lactic acidemia" "" "" "" "" "" "" "" "" "" "epilepsy, microcephaly" "" "0000271541" "05747" "00376333" "00559" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "osteopetrosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000100852" "00100446" "1" "01918" "01918" "2017-02-26 13:45:23" "" "" "SEQ-NG-I" "DNA" "skin" "" "0000295120" "00293952" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000332758" "00331539" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000375624" "00374430" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000377529" "00376333" "1" "00559" "00559" "2021-06-20 13:57:06" "00559" "2021-06-20 14:48:16" "SEQ-NG" "DNA" "blood" "Whole exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000100852" "MANEAL" "0000100852" "OSTM1" "0000332758" "OSTM1" "0000375624" "OSTM1" ## 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 = 19 "{{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}}" "0000163244" "3" "50" "6" "108372230" "108372230" "subst" "0" "01918" "OSTM1_000001" "g.108372230C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.108051026C>A" "" "VUS" "" "0000526624" "0" "30" "6" "108385411" "108385411" "subst" "0.00171646" "01943" "OSTM1_000002" "g.108385411T>C" "" "" "" "OSTM1(NM_014028.3):c.495A>G (p.T165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108064207T>C" "" "likely benign" "" "0000526625" "0" "50" "6" "108395630" "108395630" "subst" "0" "01804" "OSTM1_000003" "g.108395630C>A" "" "" "" "OSTM1(NM_014028.3):c.226G>T (p.(Asp76Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108074426C>A" "" "VUS" "" "0000526626" "0" "30" "6" "108395722" "108395722" "subst" "0.000826625" "01804" "OSTM1_000004" "g.108395722T>C" "" "" "" "OSTM1(NM_014028.3):c.134A>G (p.D45G, p.(Asp45Gly)), OSTM1(NM_014028.4):c.134A>G (p.D45G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108074518T>C" "" "likely benign" "" "0000621613" "0" "30" "6" "108395809" "108395809" "subst" "0" "02326" "OSTM1_000005" "g.108395809G>C" "" "" "" "OSTM1(NM_014028.4):c.47C>G (p.P16R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108074605G>C" "" "likely benign" "" "0000651809" "1" "30" "6" "108395700" "108395700" "subst" "0.00812097" "03575" "OSTM1_000006" "g.108395700C>G" "56/2761 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "56 heterozygous, no homozygous; {DB:CLININrs9480830}" "Germline" "" "rs9480830" "0" "" "" "g.108074496C>G" "" "likely benign" "" "0000655447" "0" "50" "6" "108365996" "108365996" "del" "0" "01943" "OSTM1_000007" "g.108365996del" "" "" "" "OSTM1(NM_014028.3):c.998delC (p.S333*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108044792del" "" "VUS" "" "0000720619" "0" "30" "6" "108372390" "108372390" "subst" "0" "01804" "OSTM1_000008" "g.108372390T>C" "" "" "" "OSTM1(NM_014028.3):c.628A>G (p.(Ser210Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730040" "3" "90" "6" "108385494" "108385495" "del" "0" "00000" "OSTM1_000009" "g.108385494_108385495del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_014028.3:c.415_416delAG:p.(Gln140Glufs*11)" "" "Germline" "" "" "0" "" "" "g.108064290_108064291del" "" "pathogenic (recessive)" "" "0000786975" "3" "70" "6" "108375789" "108375792" "del" "0" "00006" "OSTM1_000010" "g.108375789_108375792del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.108054585_108054588del" "" "likely pathogenic" "" "0000789899" "3" "70" "6" "108395734" "108395734" "del" "0" "00559" "OSTM1_000011" "g.108395734del" "" "" "" "124delG" "{PMID:Liu 2021:34753502}" "Germline" "" "" "0" "" "" "g.108074530del" "" "pathogenic (recessive)" "" "0000802254" "0" "30" "6" "108375686" "108375686" "subst" "0.000845937" "01943" "OSTM1_000012" "g.108375686T>C" "" "" "" "OSTM1(NM_014028.3):c.615+8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802255" "0" "30" "6" "108395700" "108395700" "subst" "0.00812097" "01804" "OSTM1_000006" "g.108395700C>G" "" "" "" "OSTM1(NM_014028.3):c.156G>C (p.(Leu52Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851030" "0" "30" "6" "108395712" "108395712" "subst" "0" "01943" "OSTM1_000014" "g.108395712C>T" "" "" "" "OSTM1(NM_014028.3):c.144G>A (p.S48=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851031" "0" "30" "6" "108395722" "108395722" "subst" "0.000826625" "01943" "OSTM1_000004" "g.108395722T>C" "" "" "" "OSTM1(NM_014028.3):c.134A>G (p.D45G, p.(Asp45Gly)), OSTM1(NM_014028.4):c.134A>G (p.D45G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860063" "0" "50" "6" "108366005" "108366005" "subst" "0" "01804" "OSTM1_000013" "g.108366005T>C" "" "" "" "OSTM1(NM_014028.3):c.989A>G (p.(Gln330Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860064" "0" "30" "6" "108375686" "108375686" "subst" "0.000845937" "01804" "OSTM1_000012" "g.108375686T>C" "" "" "" "OSTM1(NM_014028.3):c.615+8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860065" "0" "50" "6" "108395818" "108395818" "subst" "0" "01943" "OSTM1_000015" "g.108395818G>A" "" "" "" "OSTM1(NM_014028.3):c.38C>T (p.S13L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886979" "0" "30" "6" "108395722" "108395722" "subst" "0.000826625" "02326" "OSTM1_000004" "g.108395722T>C" "" "" "" "OSTM1(NM_014028.3):c.134A>G (p.D45G, p.(Asp45Gly)), OSTM1(NM_014028.4):c.134A>G (p.D45G)" "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 OSTM1 ## Count = 19 "{{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}}" "0000163244" "00015500" "50" "783" "5" "783" "5" "c.783+5G>T" "r.spl?" "p.?" "4" "0000526624" "00015500" "30" "495" "0" "495" "0" "c.495A>G" "r.(?)" "p.(Thr165=)" "" "0000526625" "00015500" "50" "226" "0" "226" "0" "c.226G>T" "r.(?)" "p.(Asp76Tyr)" "" "0000526626" "00015500" "30" "134" "0" "134" "0" "c.134A>G" "r.(?)" "p.(Asp45Gly)" "" "0000621613" "00015500" "30" "47" "0" "47" "0" "c.47C>G" "r.(?)" "p.(Pro16Arg)" "" "0000651809" "00015500" "30" "156" "0" "156" "0" "c.156G>C" "r.(?)" "p.(Leu52Phe)" "" "0000655447" "00015500" "50" "998" "0" "998" "0" "c.998del" "r.(?)" "p.(Ser333Ter)" "" "0000720619" "00015500" "30" "628" "0" "628" "0" "c.628A>G" "r.(?)" "p.(Ser210Gly)" "" "0000730040" "00015500" "90" "411" "0" "412" "0" "c.411_412del" "r.(?)" "p.(Gln140Glufs*11)" "" "0000786975" "00015500" "70" "518" "0" "521" "0" "c.518_521del" "r.(?)" "p.(Asn173IlefsTer2)" "3" "0000789899" "00015500" "70" "124" "0" "124" "0" "c.124del" "r.(?)" "p.(Val42Serfs*57)" "" "0000802254" "00015500" "30" "615" "8" "615" "8" "c.615+8A>G" "r.(=)" "p.(=)" "" "0000802255" "00015500" "30" "156" "0" "156" "0" "c.156G>C" "r.(?)" "p.(Leu52Phe)" "" "0000851030" "00015500" "30" "144" "0" "144" "0" "c.144G>A" "r.(?)" "p.(Ser48=)" "" "0000851031" "00015500" "30" "134" "0" "134" "0" "c.134A>G" "r.(?)" "p.(Asp45Gly)" "" "0000860063" "00015500" "50" "989" "0" "989" "0" "c.989A>G" "r.(?)" "p.(Gln330Arg)" "" "0000860064" "00015500" "30" "615" "8" "615" "8" "c.615+8A>G" "r.(=)" "p.(=)" "" "0000860065" "00015500" "50" "38" "0" "38" "0" "c.38C>T" "r.(?)" "p.(Ser13Leu)" "" "0000886979" "00015500" "30" "134" "0" "134" "0" "c.134A>G" "r.(?)" "p.(Asp45Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000100852" "0000163244" "0000295120" "0000651809" "0000332758" "0000730040" "0000375624" "0000786975" "0000377529" "0000789899"