### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ITGB3) # 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}}" "ITGB3" "integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)" "17" "q21.32" "unknown" "NG_008332.2" "UD_132118861090" "" "https://www.LOVD.nl/ITGB3" "" "1" "6156" "3690" "173470" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ITGB3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-07-01 10:57:43" "00000" "2025-05-24 12:42:03" ## 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}}" "00010204" "ITGB3" "integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)" "001" "NM_000212.2" "" "NP_000203.2" "" "" "" "-20" "4874" "2367" "45331208" "45390077" "" "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" "02093" "GT2;BDPLT23" "thrombasthenia, Glanzmann\'s, type 2" "AR" "619267" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-07-01 11:25:43" "02760" "MCI1" "myocardial infarction, susceptibility to, type 1 (MCI-1)" "" "608446" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "07096" "BDPLT24" "bleeding disorder, platelet, type 24" "AD" "619271" "" "" "" "00006" "2024-07-01 11:27:52" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ITGB3" "02093" "ITGB3" "02760" "ITGB3" "07096" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00291771" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304588" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00358957" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71918" "00358972" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case70559" "00451682" "" "" "00451684" "1" "" "04716" "{PMID:Li 2024:34404052}, {DOI:Li 2024:10.1159/000517050}" "older brother" "F" "no" "China" "05y" "0" "" "" "Asian" "Pat1" "00451684" "" "" "" "2" "" "04716" "{PMID:Li 2024:34404052}, {DOI:Li 2024:10.1159/000517050}" "5-generation family, 2 affected (1F, 1M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "China" "05y" "0" "" "" "Asia" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00291771" "00198" "00304588" "00198" "00358957" "04214" "00358972" "04214" "00451682" "02093" "00451684" "02093" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02093, 02760, 04214, 07096 ## 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}}" "0000254255" "04214" "00358957" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254270" "04214" "00358972" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Best macular dystrophy" "" "0000340345" "02093" "00451684" "04716" "Familial, autosomal recessive" "14y" "Easy bleeding (HP:0011889), Subcutaneous hemorrhage (HP:0001933), Epistaxis (HP:0000421), Gingival bleeding(HP:0000225), Oral cavity bleeding (HP:0030140), Menorrhagia (HP:0000132); brother died 5y-oral cavity/nasal hemorrhage" "00y01m" "14y" "Subcutaneous hemorrhage (HP:0001933)" "" "" "" "" "" "GT2" "Glanzmann’s thrombasthenia" "" "0000340358" "02093" "00451682" "00006" "Familial, autosomal recessive" "" "see paper; ..., died 5y-oral cavity/nasal hemorrhage" "" "" "" "" "" "" "" "" "GT2" "Glanzmann\'s thrombasthenia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000292939" "00291771" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305717" "00304588" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000360194" "00358957" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360209" "00358972" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000453288" "00451684" "1" "04716" "04716" "2024-06-28 14:08:31" "" "" "SEQ-NG" "DNA" "peripheral blood" "whole exome sequencing" "0000453301" "00451682" "1" "04716" "00006" "2024-07-01 11:07:58" "00006" "2024-07-01 11:10:00" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000453288" "ITGB3" "0000453301" "ITGB3" ## 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 = 49 "{{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}}" "0000248694" "0" "10" "17" "45368337" "45368337" "subst" "0.38618" "02325" "ITGB3_000001" "g.45368337A>C" "" "" "" "ITGB3(NM_000212.3):c.1143A>C (p.V381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47290971A>C" "" "benign" "" "0000248695" "0" "10" "17" "45369777" "45369777" "subst" "0.285563" "02325" "ITGB3_000003" "g.45369777A>G" "" "" "" "ITGB3(NM_000212.3):c.1533A>G (p.E511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47292411A>G" "" "benign" "" "0000289768" "0" "50" "17" "45369757" "45369757" "subst" "4.07216E-6" "01943" "ITGB3_000002" "g.45369757C>T" "" "" "" "ITGB3(NM_000212.2):c.1513C>T (p.R505C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47292391C>T" "" "VUS" "" "0000289769" "0" "10" "17" "45369788" "45369788" "subst" "0.00264032" "01943" "ITGB3_000004" "g.45369788G>A" "" "" "" "ITGB3(NM_000212.2):c.1544G>A (p.R515Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47292422G>A" "" "benign" "" "0000338125" "0" "10" "17" "45385012" "45385012" "subst" "0.429796" "02327" "ITGB3_000009" "g.45385012C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47307646C>T" "" "benign" "" "0000340106" "0" "10" "17" "45368337" "45368337" "subst" "0.38618" "02327" "ITGB3_000001" "g.45368337A>C" "" "" "" "ITGB3(NM_000212.3):c.1143A>C (p.V381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47290971A>C" "" "benign" "" "0000340107" "0" "10" "17" "45369777" "45369777" "subst" "0.285563" "02327" "ITGB3_000003" "g.45369777A>G" "" "" "" "ITGB3(NM_000212.3):c.1533A>G (p.E511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47292411A>G" "" "benign" "" "0000340108" "0" "10" "17" "45369789" "45369789" "subst" "0.28557" "02327" "ITGB3_000008" "g.45369789G>A" "" "" "" "ITGB3(NM_000212.3):c.1545G>A (p.R515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47292423G>A" "" "benign" "" "0000347250" "0" "10" "17" "45360730" "45360730" "subst" "0.12126" "02327" "ITGB3_000005" "g.45360730T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47283364T>C" "" "benign" "" "0000349000" "0" "50" "17" "45369509" "45369509" "subst" "0" "02327" "ITGB3_000006" "g.45369509G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47292143G>A" "" "VUS" "" "0000350542" "0" "50" "17" "45369577" "45369577" "subst" "0.000158404" "02327" "ITGB3_000007" "g.45369577G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47292211G>A" "" "VUS" "" "0000562092" "0" "30" "17" "45331299" "45331299" "subst" "0.000553737" "02326" "ITGB3_000010" "g.45331299C>T" "" "" "" "ITGB3(NM_000212.2):c.72C>T (p.G24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47253933C>T" "" "likely benign" "" "0000562093" "0" "10" "17" "45369789" "45369789" "subst" "0.28557" "02325" "ITGB3_000008" "g.45369789G>A" "" "" "" "ITGB3(NM_000212.3):c.1545G>A (p.R515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47292423G>A" "" "benign" "" "0000616650" "0" "70" "17" "45384980" "45384980" "subst" "0" "02327" "ITGB3_000011" "g.45384980C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47307614C>T" "" "likely pathogenic" "" "0000649628" "1" "90" "17" "45361875" "45361875" "subst" "2.03041E-5" "03575" "ITGB3_000012" "g.45361875T>G" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121918452}" "Germline" "" "rs121918452" "0" "" "" "g.47284509T>G" "" "pathogenic" "" "0000669405" "3" "30" "17" "45388209" "45388209" "subst" "0" "03575" "ITGB3_000013" "g.45388209G>A" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs17225109}" "Germline" "" "rs17225109" "0" "" "" "g.47310843G>A" "" "likely benign" "" "0000680909" "0" "50" "17" "45368429" "45368429" "subst" "0" "02327" "ITGB3_000014" "g.45368429G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692384" "0" "50" "17" "45369541" "45369541" "subst" "2.43752E-5" "02327" "ITGB3_000015" "g.45369541C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692385" "0" "30" "17" "45369924" "45369924" "subst" "0" "02327" "ITGB3_000016" "g.45369924G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726473" "0" "10" "17" "45360896" "45360896" "subst" "0.00422975" "02327" "ITGB3_000017" "g.45360896T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000759740" "0" "70" "17" "45367568" "45367573" "del" "0" "03779" "ITGB3_000019" "g.45367568_45367573del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000760006" "0" "50" "17" "45369820" "45369820" "subst" "2.87017E-5" "00000" "ITGB3_000020" "g.45369820G>C" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.47292454G>C" "" "VUS" "" "0000760069" "0" "50" "17" "45364443" "45364443" "subst" "0" "00000" "ITGB3_000018" "g.45364443T>C" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.47287077T>C" "" "VUS" "" "0000808058" "0" "50" "17" "45362004" "45362004" "subst" "0.000523926" "02327" "ITGB3_000021" "g.45362004C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854970" "0" "30" "17" "45369775" "45369775" "subst" "2.44493E-5" "01943" "ITGB3_000022" "g.45369775G>A" "" "" "" "ITGB3(NM_000212.2):c.1531G>A (p.E511K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854971" "0" "30" "17" "45377906" "45377906" "subst" "4.46769E-5" "01943" "ITGB3_000023" "g.45377906G>A" "" "" "" "ITGB3(NM_000212.2):c.1976G>A (p.R659H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000878563" "0" "70" "17" "45361929" "45361929" "subst" "0" "03779" "ITGB3_000024" "g.45361929G>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000914872" "0" "10" "17" "45377825" "45377825" "subst" "0.0882384" "02327" "ITGB3_000025" "g.45377825T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930802" "0" "70" "17" "45369700" "45369700" "subst" "0" "02327" "ITGB3_000026" "g.45369700T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950934" "0" "10" "17" "45331267" "45331267" "subst" "0.000832151" "02326" "ITGB3_000027" "g.45331267G>A" "" "" "" "ITGB3(NM_000212.2):c.40G>A (p.V14M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950935" "0" "70" "17" "45363761" "45363761" "subst" "0" "02326" "ITGB3_000028" "g.45363761T>A" "" "" "" "ITGB3(NM_000212.2):c.750T>A (p.D250E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950936" "0" "30" "17" "45387528" "45387528" "subst" "4.46744E-5" "02326" "ITGB3_000029" "g.45387528G>A" "" "" "" "ITGB3(NM_000212.2):c.2325G>A (p.E775=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982576" "0" "70" "17" "45360907" "45360907" "subst" "0" "01804" "ITGB3_000030" "g.45360907T>A" "" "" "" "ITGB3(NM_000212.3):c.353T>A (p.(Leu118His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000982577" "0" "50" "17" "45361815" "45361815" "subst" "1.62444E-5" "01804" "ITGB3_000031" "g.45361815C>T" "" "" "" "ITGB3(NM_000212.3):c.368C>T (p.(Ser123Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982578" "0" "50" "17" "45367092" "45367092" "subst" "0.00013401" "01804" "ITGB3_000032" "g.45367092A>G" "" "" "" "ITGB3(NM_000212.3):c.985A>G (p.(Asn329Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982579" "0" "50" "17" "45367132" "45367132" "subst" "4.87417E-5" "01804" "ITGB3_000033" "g.45367132A>G" "" "" "" "ITGB3(NM_000212.3):c.1025A>G (p.(Asn342Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982580" "0" "50" "17" "45369546" "45369546" "subst" "0" "01804" "ITGB3_000034" "g.45369546G>C" "" "" "" "ITGB3(NM_000212.3):c.1302G>C (p.(Gln434His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982581" "0" "90" "17" "45369883" "45369883" "subst" "0" "01804" "ITGB3_000035" "g.45369883T>G" "" "" "" "ITGB3(NM_000212.3):c.1639T>G (p.(Cys547Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000982582" "0" "30" "17" "45376914" "45376914" "subst" "1.6492E-5" "02326" "ITGB3_000036" "g.45376914A>G" "" "" "" "ITGB3(NM_000212.2):c.1913+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000987867" "3" "90" "17" "45376767" "45376785" "delins" "0" "04716" "ITGB3_000037" "g.45376767_45376785delinsGTCACA" "" "{PMID:Li 2024:34404052}, {DOI:Li 2024:10.1159/000517050}" "" "1784–1802delinsGTCACA" "" "Germline" "yes" "" "0" "" "" "g.47299401_47299419delinsGTCACA" "" "pathogenic" "" "0000987884" "3" "90" "17" "45376767" "45376785" "delins" "0" "04716" "ITGB3_000037" "g.45376767_45376785delinsGTCACA" "" "{PMID:Li 2024:34404052}, {DOI:Li 2024:10.1159/000517050}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47299401_47299419delinsGTCACA" "" "pathogenic (recessive)" "" "0001003356" "0" "50" "17" "45368350" "45368350" "subst" "2.03049E-5" "01804" "ITGB3_000038" "g.45368350C>T" "" "" "" "ITGB3(NM_000212.2):c.1156C>T (p.(Arg386Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003357" "0" "50" "17" "45376842" "45376842" "subst" "0" "01804" "ITGB3_000039" "g.45376842A>G" "" "" "" "ITGB3(NM_000212.2):c.1859A>G (p.(Tyr620Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003358" "0" "50" "17" "45387560" "45387560" "subst" "1.21865E-5" "01804" "ITGB3_000040" "g.45387560G>A" "" "" "" "ITGB3(NM_000212.2):c.2357G>A (p.(Arg786Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041934" "0" "30" "17" "45360839" "45360839" "subst" "0.000312838" "01804" "ITGB3_000041" "g.45360839C>T" "" "" "" "ITGB3(NM_000212.3):c.285C>T (p.(Leu95=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041935" "0" "50" "17" "45376833" "45376833" "subst" "6.09276E-5" "01804" "ITGB3_000042" "g.45376833C>T" "" "" "" "ITGB3(NM_000212.3):c.1850C>T (p.(Pro617Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041936" "0" "50" "17" "45384939" "45384939" "subst" "0" "01804" "ITGB3_000043" "g.45384939C>T" "" "" "" "ITGB3(NM_000212.3):c.2237C>T (p.(Thr746Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041937" "0" "90" "17" "45384950" "45384950" "subst" "3.65545E-5" "01804" "ITGB3_000044" "g.45384950C>T" "" "" "" "ITGB3(NM_000212.3):c.2248C>T (p.(Arg750*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001045048" "0" "70" "17" "45385008" "45385008" "subst" "0" "03779" "ITGB3_000045" "g.45385008G>A" "" "" "" "" "" "Unknown" "" "rs2547623844" "0" "" "" "" "" "likely pathogenic" "" ## 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 ITGB3 ## Count = 49 "{{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}}" "0000248694" "00010204" "10" "1143" "0" "1143" "0" "c.1143A>C" "r.(?)" "p.(Val381=)" "" "0000248695" "00010204" "10" "1533" "0" "1533" "0" "c.1533A>G" "r.(?)" "p.(Glu511=)" "" "0000289768" "00010204" "50" "1513" "0" "1513" "0" "c.1513C>T" "r.(?)" "p.(Arg505Cys)" "" "0000289769" "00010204" "10" "1544" "0" "1544" "0" "c.1544G>A" "r.(?)" "p.(Arg515Gln)" "" "0000338125" "00010204" "10" "2301" "9" "2301" "9" "c.2301+9C>T" "r.(=)" "p.(=)" "" "0000340106" "00010204" "10" "1143" "0" "1143" "0" "c.1143A>C" "r.(?)" "p.(Val381=)" "" "0000340107" "00010204" "10" "1533" "0" "1533" "0" "c.1533A>G" "r.(?)" "p.(Glu511=)" "" "0000340108" "00010204" "10" "1545" "0" "1545" "0" "c.1545G>A" "r.(?)" "p.(Arg515=)" "" "0000347250" "00010204" "10" "176" "0" "176" "0" "c.176T>C" "r.(?)" "p.(Leu59Pro)" "" "0000349000" "00010204" "50" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Ser422Asn)" "" "0000350542" "00010204" "50" "1333" "0" "1333" "0" "c.1333G>A" "r.(?)" "p.(Val445Met)" "" "0000562092" "00010204" "30" "72" "0" "72" "0" "c.72C>T" "r.(?)" "p.(Gly24=)" "" "0000562093" "00010204" "10" "1545" "0" "1545" "0" "c.1545G>A" "r.(?)" "p.(Arg515=)" "" "0000616650" "00010204" "70" "2278" "0" "2278" "0" "c.2278C>T" "r.(?)" "p.(Arg760Cys)" "" "0000649628" "00010204" "90" "428" "0" "428" "0" "c.428T>G" "r.(?)" "p.(Leu143Trp)" "" "0000669405" "00010204" "30" "3006" "0" "3006" "0" "c.*639G>A" "r.(=)" "p.(=)" "" "0000680909" "00010204" "50" "1235" "0" "1235" "0" "c.1235G>C" "r.(?)" "p.(Cys412Ser)" "" "0000692384" "00010204" "50" "1297" "0" "1297" "0" "c.1297C>G" "r.(?)" "p.(Pro433Ala)" "" "0000692385" "00010204" "30" "1680" "0" "1680" "0" "c.1680G>A" "r.(?)" "p.(Glu560=)" "" "0000726473" "00010204" "10" "342" "0" "342" "0" "c.342T>C" "r.(?)" "p.(Ile114=)" "" "0000759740" "00010204" "70" "1053" "0" "1058" "0" "c.1053_1058del" "r.(?)" "p.(Ile351_Gly353delinsMet)" "" "0000760006" "00010204" "50" "1576" "0" "1576" "0" "c.1576G>C" "r.(?)" "p.(Glu526Gln)" "" "0000760069" "00010204" "50" "785" "0" "785" "0" "c.785T>C" "r.(?)" "p.(Ile262Thr)" "" "0000808058" "00010204" "50" "557" "0" "557" "0" "c.557C>T" "r.(?)" "p.(Pro186Leu)" "" "0000854970" "00010204" "30" "1531" "0" "1531" "0" "c.1531G>A" "r.(?)" "p.(Glu511Lys)" "" "0000854971" "00010204" "30" "1976" "0" "1976" "0" "c.1976G>A" "r.(?)" "p.(Arg659His)" "" "0000878563" "00010204" "70" "482" "0" "482" "0" "c.482G>T" "r.(?)" "p.(Gly161Val)" "" "0000914872" "00010204" "10" "1914" "-19" "1914" "-19" "c.1914-19T>C" "r.(=)" "p.(=)" "" "0000930802" "00010204" "70" "1456" "0" "1456" "0" "c.1456T>C" "r.(?)" "p.(Cys486Arg)" "" "0000950934" "00010204" "10" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Val14Met)" "" "0000950935" "00010204" "70" "750" "0" "750" "0" "c.750T>A" "r.(?)" "p.(Asp250Glu)" "" "0000950936" "00010204" "30" "2325" "0" "2325" "0" "c.2325G>A" "r.(?)" "p.(=)" "" "0000982576" "00010204" "70" "353" "0" "353" "0" "c.353T>A" "r.(?)" "p.(Leu118His)" "" "0000982577" "00010204" "50" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Ser123Leu)" "" "0000982578" "00010204" "50" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Asn329Asp)" "" "0000982579" "00010204" "50" "1025" "0" "1025" "0" "c.1025A>G" "r.(?)" "p.(Asn342Ser)" "" "0000982580" "00010204" "50" "1302" "0" "1302" "0" "c.1302G>C" "r.(?)" "p.(Gln434His)" "" "0000982581" "00010204" "90" "1639" "0" "1639" "0" "c.1639T>G" "r.(?)" "p.(Cys547Gly)" "" "0000982582" "00010204" "30" "1913" "18" "1913" "18" "c.1913+18A>G" "r.(=)" "p.(=)" "" "0000987867" "00010204" "90" "1784" "0" "1802" "0" "c.1784_1802delinsGTCACA" "r.(?)" "p.(Ser595Cysfs*70)" "11" "0000987884" "00010204" "90" "1784" "0" "1802" "0" "c.1784_1802delinsGTCACA" "r.(?)" "p.(Ser595Cysfs*70)" "11" "0001003356" "00010204" "50" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Cys)" "" "0001003357" "00010204" "50" "1859" "0" "1859" "0" "c.1859A>G" "r.(?)" "p.(Tyr620Cys)" "" "0001003358" "00010204" "50" "2357" "0" "2357" "0" "c.2357G>A" "r.(?)" "p.(Arg786Gln)" "" "0001041934" "00010204" "30" "285" "0" "285" "0" "c.285C>T" "r.(?)" "p.(=)" "" "0001041935" "00010204" "50" "1850" "0" "1850" "0" "c.1850C>T" "r.(?)" "p.(Pro617Leu)" "" "0001041936" "00010204" "50" "2237" "0" "2237" "0" "c.2237C>T" "r.(?)" "p.(Thr746Ile)" "" "0001041937" "00010204" "90" "2248" "0" "2248" "0" "c.2248C>T" "r.(?)" "p.(Arg750*)" "" "0001045048" "00010204" "70" "2301" "5" "2301" "5" "c.2301+5G>A" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000292939" "0000649628" "0000305717" "0000669405" "0000360194" "0000760006" "0000360209" "0000760069" "0000453288" "0000987867" "0000453301" "0000987884"