### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ITGA2) # 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}}" "ITGA2" "integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)" "5" "q11.2" "unknown" "NC_000005.9" "UD_132118416914" "" "https://www.LOVD.nl/ITGA2" "" "1" "6137" "3673" "192974" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/ITGA2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-12-13 19:41:24" "00006" "2025-12-14 09:05:20" ## 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}}" "00010182" "ITGA2" "integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)" "001" "NM_002203.3" "" "NP_002194.2" "" "" "" "-143" "7726" "3546" "52285156" "52390609" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "07213" "FMAIT" "fetomaternal alloimmune thrombocytopenia" "" "" "" "" "" "00006" "2025-12-10 15:54:10" "00006" "2025-12-13 18:58:46" "07217" "HPA" "antigen, platelet, human" "" "" "" "" "" "00006" "2025-12-13 19:22:50" "" "" "07218" "FMAIT3" "fetomaternal alloimmune thrombocytopenia, type 3" "" "621267" "" "" "" "00006" "2025-12-13 19:40:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ITGA2" "07218" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00104004" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-125A" "00293881" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293882" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00470930" "" "" "" "1" "" "00006" "{PMID:Santoso 1993:7901236}" "" "" "" "Germany" "" "0" "" "" "" "patient" "00470931" "" "" "" "1" "" "00006" "{PMID:Santoso 1999:10590055}" "2-generation family, 1 affected, unaffected heterozygous carrier father" "M" "" "Germany" "" "0" "" "" "" "patient" "00470932" "" "" "" "2" "" "00006" "{PMID:Santoso 1999:10590055}" "" "" "" "Germany" "" "0" "" "" "" "control" "00470933" "" "" "" "1" "" "00006" "{PMID:Santoso 1999:10590055}" "" "" "" "Germany" "" "0" "" "" "" "control" "00470936" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "patient" "00470937" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00104004" "03381" "00293881" "00198" "00293882" "00198" "00470930" "07213" "00470931" "07213" "00470932" "00000" "00470933" "00000" "00470936" "07217" "00470937" "07217" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 03381, 07213, 07217, 07218 ## Count = 3 "{{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}}" "0000081938" "03381" "00104004" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000355799" "07213" "00470930" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "FMAIT3" "neonatal alloimmune thrombocytopenia" "" "0000355800" "07213" "00470931" "00006" "Familial" "" "see paper; ..., birth severe thrombocytopenia, platelet count decreased continually below measurable value; 4d-petechiae" "" "" "" "" "" "" "" "" "FMAIT3" "neonatal alloimmune thrombocytopenia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104475" "00104004" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000295049" "00293881" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295050" "00293882" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000472596" "00470930" "1" "00006" "00006" "2025-12-13 20:31:29" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472597" "00470931" "1" "00006" "00006" "2025-12-13 21:09:38" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472598" "00470932" "1" "00006" "00006" "2025-12-13 21:18:38" "" "" "SEQ" "DNA" "" "" "0000472599" "00470933" "1" "00006" "00006" "2025-12-13 21:23:45" "" "" "SEQ" "DNA" "" "" "0000472601" "00470936" "1" "00006" "00006" "2025-12-14 09:02:27" "" "" "SEQ" "DNA" "" "" "0000472602" "00470937" "1" "00006" "00006" "2025-12-14 09:04:22" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000472596" "ITGA2" "0000472597" "ITGA2" "0000472598" "ITGA2" "0000472599" "ITGA2" "0000472601" "ITGA2" "0000472602" "ITGA2" ## 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 = 40 "{{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}}" "0000169306" "0" "70" "5" "52385812" "52385812" "subst" "8.12883E-6" "00587" "ITGA2_000001" "g.52385812G>A" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_002203.3(ITGA2):c.3385G>A p.(Glu1129Lys)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.53089982G>A" "" "likely pathogenic" "" "0000249073" "0" "10" "5" "52344610" "52344610" "subst" "0.719221" "02325" "ITGA2_000002" "g.52344610A>G" "" "" "" "ITGA2(NM_002203.4):c.630+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53048780A>G" "" "benign" "" "0000251356" "0" "10" "5" "52358774" "52358774" "del" "0" "02326" "ITGA2_000006" "g.52358774del" "" "" "" "ITGA2(NM_002203.4):c.1602+15delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53062944del" "" "benign" "" "0000252105" "0" "30" "5" "52371047" "52371047" "subst" "0.000589232" "02326" "ITGA2_000008" "g.52371047A>G" "" "" "" "ITGA2(NM_002203.4):c.2742-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53075217A>G" "" "likely benign" "" "0000252615" "0" "90" "5" "52371049" "52371049" "subst" "2.45525E-5" "02326" "ITGA2_000009" "g.52371049A>G" "" "" "" "ITGA2(NM_002203.4):c.2742-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53075219A>G" "" "pathogenic" "" "0000281567" "0" "10" "5" "52355854" "52355854" "subst" "0.387919" "02325" "ITGA2_000005" "g.52355854T>C" "" "" "" "ITGA2(NM_002203.4):c.1312+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53060024T>C" "" "benign" "" "0000281568" "0" "10" "5" "52379277" "52379277" "subst" "0.368197" "02325" "ITGA2_000010" "g.52379277C>T" "" "" "" "ITGA2(NM_002203.4):c.3252C>T (p.F1084=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53083447C>T" "" "benign" "" "0000281569" "0" "10" "5" "52347369" "52347369" "subst" "0.386281" "02325" "ITGA2_000003" "g.52347369C>T" "" "" "" "ITGA2(NM_002203.4):c.759C>T (p.F253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53051539C>T" "" "benign" "" "0000281570" "0" "10" "5" "52351413" "52351413" "subst" "0.38848" "02325" "ITGA2_000004" "g.52351413G>A" "" "" "" "ITGA2(NM_002203.4):c.825G>A (p.T275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53055583G>A" "" "benign" "" "0000525811" "0" "30" "5" "52365930" "52365931" "dup" "0" "02326" "ITGA2_000012" "g.52365930_52365931dup" "" "" "" "ITGA2(NM_002203.4):c.2084-8_2084-7dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53070100_53070101dup" "" "likely benign" "" "0000525812" "0" "30" "5" "52367758" "52367758" "subst" "2.44758E-5" "02326" "ITGA2_000013" "g.52367758G>A" "" "" "" "ITGA2(NM_002203.4):c.2236-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53071928G>A" "" "likely benign" "" "0000525813" "0" "50" "5" "52371049" "52371049" "subst" "2.45525E-5" "02327" "ITGA2_000009" "g.52371049A>G" "" "" "" "ITGA2(NM_002203.4):c.2742-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53075219A>G" "" "VUS" "" "0000525814" "0" "30" "5" "52377403" "52377403" "subst" "0.00041479" "02326" "ITGA2_000014" "g.52377403G>A" "" "" "" "ITGA2(NM_002203.4):c.3040-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53081573G>A" "" "likely benign" "" "0000525815" "0" "50" "5" "52385852" "52385853" "ins" "0" "01943" "ITGA2_000015" "g.52385852_52385853insT" "" "" "" "ITGA2(NM_002203.3):c.3425_3426insT (p.I1143Nfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53090022_53090023insT" "" "VUS" "" "0000525816" "0" "30" "5" "52394439" "52394439" "subst" "0.000857786" "02326" "ITGA2_000016" "g.52394439T>C" "" "" "" "MOCS2(NM_004531.5):c.560A>G (p.N187S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53098609T>C" "" "likely benign" "" "0000609756" "0" "30" "5" "52347371" "52347371" "subst" "0" "01943" "ITGA2_000017" "g.52347371G>A" "" "" "" "ITGA2(NM_002203.3):c.761G>A (p.G254E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53051541G>A" "" "likely benign" "" "0000621576" "0" "30" "5" "52394489" "52394489" "subst" "0.000187585" "01943" "ITGA2_000018" "g.52394489G>A" "" "" "" "MOCS2(NM_004531.4):c.510C>T (p.Y170=), MOCS2(NM_004531.5):c.510C>T (p.Y170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53098659G>A" "" "likely benign" "" "0000621577" "0" "30" "5" "52394489" "52394489" "subst" "0.000187585" "02326" "ITGA2_000018" "g.52394489G>A" "" "" "" "MOCS2(NM_004531.4):c.510C>T (p.Y170=), MOCS2(NM_004531.5):c.510C>T (p.Y170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53098659G>A" "" "likely benign" "" "0000651738" "1" "30" "5" "52337983" "52337983" "subst" "0.00245865" "03575" "ITGA2_000019" "g.52337983G>A" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs143262642}" "Germline" "" "rs143262642" "0" "" "" "g.53042153G>A" "" "likely benign" "" "0000651739" "1" "30" "5" "52386458" "52386458" "subst" "0.00831681" "03575" "ITGA2_000020" "g.52386458G>A" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs13173706}" "Germline" "" "rs13173706" "0" "" "" "g.53090628G>A" "" "likely benign" "" "0000689529" "0" "30" "5" "52361665" "52361665" "subst" "0.00332271" "01804" "ITGA2_000023" "g.52361665T>C" "" "" "" "ITGA2(NM_002203.3):c.1807-6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720451" "0" "30" "5" "52347366" "52347366" "subst" "0.00304729" "02327" "ITGA2_000024" "g.52347366A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802126" "0" "30" "5" "52340880" "52340880" "subst" "6.51407E-5" "01943" "ITGA2_000025" "g.52340880C>T" "" "" "" "ITGA2(NM_002203.3):c.345C>T (p.L115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802127" "0" "30" "5" "52367773" "52367773" "subst" "0.000884472" "01943" "ITGA2_000026" "g.52367773C>T" "" "" "" "ITGA2(NM_002203.3):c.2241C>T (p.P747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802128" "0" "30" "5" "52368525" "52368525" "subst" "0.000358072" "01943" "ITGA2_000027" "g.52368525A>G" "" "" "" "ITGA2(NM_002203.3):c.2429A>G (p.Q810R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802129" "0" "30" "5" "52376433" "52376433" "subst" "0.00154766" "02326" "ITGA2_000022" "g.52376433T>G" "" "" "" "ITGA2(NM_002203.4):c.3021T>G (p.T1007=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912350" "0" "30" "5" "52358769" "52358769" "subst" "0" "02326" "ITGA2_000028" "g.52358769A>T" "" "" "" "ITGA2(NM_002203.4):c.1602+10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924361" "0" "30" "5" "52344487" "52344487" "subst" "0.00331053" "02326" "ITGA2_000029" "g.52344487A>G" "" "" "" "ITGA2(NM_002203.4):c.517A>G (p.I173V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948562" "0" "30" "5" "52361685" "52361685" "subst" "1.63098E-5" "02326" "ITGA2_000030" "g.52361685C>T" "" "" "" "ITGA2(NM_002203.4):c.1821C>T (p.S607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963634" "0" "10" "5" "52358774" "52358774" "dup" "0" "02329" "ITGA2_000031" "g.52358774dup" "" "" "" "ITGA2(NM_002203.4):c.1602+15dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000995087" "0" "50" "5" "52356865" "52356865" "subst" "2.03691E-5" "01804" "ITGA2_000032" "g.52356865C>T" "" "" "" "ITGA2(NM_002203.3):c.1447C>T (p.(Arg483*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995088" "0" "30" "5" "52394388" "52394388" "subst" "0.00194648" "02325" "ITGA2_000033" "g.52394388T>G" "" "" "" "MOCS2(NM_176806.4):c.*531A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035238" "0" "50" "5" "52344584" "52344584" "subst" "4.0702E-6" "01804" "ITGA2_000034" "g.52344584G>T" "" "" "" "ITGA2(NM_002203.4):c.614G>T (p.(Gly205Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046032" "0" "30" "5" "52371047" "52371047" "subst" "0.000589232" "02325" "ITGA2_000008" "g.52371047A>G" "" "" "" "ITGA2(NM_002203.4):c.2742-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001061244" "10" "50" "5" "52358757" "52358757" "subst" "0" "00006" "ITGA2_000035" "g.52358757G>A" "" "{PMID:Santoso 1993:7901236}" "" "1648G>A (Glu505Lys)" "variant causes fetomaternal platelet incompatibility with maternal antibodies crossing the placenta" "Germline" "" "" "0" "" "" "g.53062927G>A" "" "pathogenic (paternal)" "" "0001061245" "11" "50" "5" "52369001" "52369001" "subst" "0.0006803" "00006" "ITGA2_000036" "g.52369001C>T" "" "{PMID:Santoso 1999:10590055}" "" "2531-2532AC>TG (Thr799Met)" "variant causes fetomaternal platelet incompatibility with maternal antibodies crossing the placenta" "Germline" "" "" "0" "" "" "g.53073171C>T" "" "pathogenic (paternal)" "" "0001061246" "1" "10" "5" "52369002" "52369002" "subst" "0.0845692" "00006" "ITGA2_000037" "g.52369002G>A" "2/22 controls" "{PMID:Santoso 1999:10590055}" "" "2532G>A" "" "Germline" "" "" "0" "" "" "g.53073172G>A" "" "likely benign" "" "0001061247" "3" "10" "5" "52369002" "52369002" "subst" "0.0845692" "00006" "ITGA2_000037" "g.52369002G>A" "1/22 controls" "{PMID:Santoso 1999:10590055}" "" "2532G>A" "" "Germline" "" "" "0" "" "" "g.53073172G>A" "" "likely benign" "" "0001061250" "0" "50" "5" "52366090" "52366090" "subst" "4.0826E-6" "00006" "ITGA2_000038" "g.52366090G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.53070260G>T" "" "VUS" "" "0001061251" "0" "50" "5" "52382870" "52382870" "subst" "2.03862E-5" "00006" "ITGA2_000039" "g.52382870C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.53087040C>T" "" "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 ITGA2 ## Count = 40 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000169306" "00010182" "00" "3385" "0" "3385" "0" "c.3385G>A" "r.(?)" "p.(Glu1129Lys)" "" "" "0000249073" "00010182" "10" "630" "10" "630" "10" "c.630+10A>G" "r.(=)" "p.(=)" "" "" "0000251356" "00010182" "10" "1602" "15" "1602" "15" "c.1602+15del" "r.(=)" "p.(=)" "" "" "0000252105" "00010182" "30" "2742" "-4" "2742" "-4" "c.2742-4A>G" "r.spl?" "p.?" "" "" "0000252615" "00010182" "90" "2742" "-2" "2742" "-2" "c.2742-2A>G" "r.spl?" "p.?" "" "" "0000281567" "00010182" "10" "1312" "12" "1312" "12" "c.1312+12T>C" "r.(=)" "p.(=)" "" "" "0000281568" "00010182" "10" "3252" "0" "3252" "0" "c.3252C>T" "r.(?)" "p.(Phe1084=)" "" "" "0000281569" "00010182" "10" "759" "0" "759" "0" "c.759C>T" "r.(?)" "p.(Phe253=)" "" "" "0000281570" "00010182" "10" "825" "0" "825" "0" "c.825G>A" "r.(?)" "p.(Thr275=)" "" "" "0000525811" "00010182" "30" "2084" "-9" "2084" "-8" "c.2084-9_2084-8dup" "r.(=)" "p.(=)" "" "" "0000525812" "00010182" "30" "2236" "-10" "2236" "-10" "c.2236-10G>A" "r.(=)" "p.(=)" "" "" "0000525813" "00010182" "50" "2742" "-2" "2742" "-2" "c.2742-2A>G" "r.spl?" "p.?" "" "" "0000525814" "00010182" "30" "3040" "-19" "3040" "-19" "c.3040-19G>A" "r.(=)" "p.(=)" "" "" "0000525815" "00010182" "50" "3425" "0" "3426" "0" "c.3425_3426insT" "r.(?)" "p.(Ile1143AsnfsTer22)" "" "" "0000525816" "00010182" "30" "11556" "0" "11556" "0" "c.*8010T>C" "r.(=)" "p.(=)" "" "" "0000609756" "00010182" "30" "761" "0" "761" "0" "c.761G>A" "r.(?)" "p.(Gly254Glu)" "" "" "0000621576" "00010182" "30" "11606" "0" "11606" "0" "c.*8060G>A" "r.(=)" "p.(=)" "" "" "0000621577" "00010182" "30" "11606" "0" "11606" "0" "c.*8060G>A" "r.(=)" "p.(=)" "" "" "0000651738" "00010182" "30" "227" "0" "227" "0" "c.227G>A" "r.(?)" "p.(Arg76Gln)" "" "" "0000651739" "00010182" "30" "3575" "0" "3575" "0" "c.*29G>A" "r.(=)" "p.(=)" "" "" "0000689529" "00010182" "30" "1807" "-6" "1807" "-6" "c.1807-6T>C" "r.(=)" "p.(=)" "" "" "0000720451" "00010182" "30" "756" "0" "756" "0" "c.756A>C" "r.(?)" "p.(Thr252=)" "" "" "0000802126" "00010182" "30" "345" "0" "345" "0" "c.345C>T" "r.(?)" "p.(Leu115=)" "" "" "0000802127" "00010182" "30" "2241" "0" "2241" "0" "c.2241C>T" "r.(?)" "p.(Pro747=)" "" "" "0000802128" "00010182" "30" "2429" "0" "2429" "0" "c.2429A>G" "r.(?)" "p.(Gln810Arg)" "" "" "0000802129" "00010182" "30" "3021" "0" "3021" "0" "c.3021T>G" "r.(?)" "p.(Thr1007=)" "" "" "0000912350" "00010182" "30" "1602" "10" "1602" "10" "c.1602+10A>T" "r.(=)" "p.(=)" "" "" "0000924361" "00010182" "30" "517" "0" "517" "0" "c.517A>G" "r.(?)" "p.(Ile173Val)" "" "" "0000948562" "00010182" "30" "1821" "0" "1821" "0" "c.1821C>T" "r.(?)" "p.(=)" "" "" "0000963634" "00010182" "10" "1602" "15" "1602" "15" "c.1602+15dup" "r.(=)" "p.(=)" "" "" "0000995087" "00010182" "50" "1447" "0" "1447" "0" "c.1447C>T" "r.(?)" "p.(Arg483*)" "" "" "0000995088" "00010182" "30" "11505" "0" "11505" "0" "c.*7959T>G" "r.(=)" "p.(=)" "" "" "0001035238" "00010182" "50" "614" "0" "614" "0" "c.614G>T" "r.(?)" "p.(Gly205Val)" "" "" "0001046032" "00010182" "30" "2742" "-4" "2742" "-4" "c.2742-4A>G" "r.spl?" "p.?" "" "" "0001061244" "00010182" "50" "1600" "0" "1600" "0" "c.1600G>A" "r.1600G>A" "p.Glu534Lys" "" "HPA-5;BR" "0001061245" "00010182" "50" "2483" "0" "2483" "0" "c.2483C>T" "r.2483C>T" "p.Thr828Met" "" "HPA-13;SIT" "0001061246" "00010182" "10" "2484" "0" "2484" "0" "c.2484G>A" "r.(?)" "p.(Thr828=)" "" "" "0001061247" "00010182" "10" "2484" "0" "2484" "0" "c.2484G>A" "r.(?)" "p.(Thr828=)" "" "" "0001061250" "00010182" "50" "2235" "0" "2235" "0" "c.2235G>T" "r.(?)" "p.(Gln745His)" "" "HPA-18" "0001061251" "00010182" "50" "3347" "0" "3347" "0" "c.3347C>T" "r.(?)" "p.(Thr1116Met)" "" "HPA-25" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000104475" "0000169306" "0000295049" "0000651738" "0000295050" "0000651739" "0000472596" "0001061244" "0000472597" "0001061245" "0000472598" "0001061246" "0000472599" "0001061247" "0000472601" "0001061250" "0000472602" "0001061251"