### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TREM2)
# 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}}"
"TREM2" "triggering receptor expressed on myeloid cells 2" "6" "p21.1" "unknown" "NG_011561.1" "UD_132119052129" "" "https://www.LOVD.nl/TREM2" "Finnish Disease Database (FinDis) " "1" "17761" "54209" "605086" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.\r\n\r\nThis database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015." "" "g" "http://databases.lovd.nl/shared/refseq/TREM2_codingDNA.html" "1" "" "" "-1" "" "-1" "00008" "2012-08-31 00:00:00" "00006" "2019-07-21 20:43:59" "00000" "2025-05-05 21:14:00"
## 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}}"
"00000288" "TREM2" "triggering receptor expressed on myeloid cells 2" "001" "NM_018965.2" "" "NP_061838.1" "" "" "" "-102" "949" "693" "41130922" "41126246" "00008" "2012-08-31 09:36:27" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00032" "PLOSL1" "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)" "AR" "221770" "" "" "" "00001" "2012-08-28 13:31:38" "00006" "2021-12-10 21:51:32"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"06715" "PLOSL2" "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2" "AD" "618193" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"TREM2" "00032"
"TREM2" "06715"
## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00294105" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00294106" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00294105" "00198"
"00294106" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00032, 00198, 06715
## Count = 0
## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000295273" "00294105" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000295274" "00294106" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
## 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 = 62
"{{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}}"
"0000016420" "3" "99" "6" "41130781" "41130781" "subst" "0" "00015" "TREM2_000001" "g.41130781C>A" "" "{PMID:Paloneva et al. 2003:12925681}" "" "40G>T, last position of exon 1: r.0 (Glu14Stp)" "1 German PLOSL patient (hom)" "SUMMARY record" "?" "" "" "" "" "g.41163043C>A" "" "pathogenic" ""
"0000016421" "3" "77" "6" "41130776" "41130778" "del" "0" "00015" "TREM2_000002" "g.41130776_41130778del" "" "{PMID:Chouery et al. 2008:18546367}" "" "40+3delAGG" "1 Lebanese Maronite PLOSL family (hom); functional studies show significantly-reduced transcription of the allele" "SUMMARY record" "yes" "" "0" "" "" "g.41163038_41163040del" "" "likely pathogenic" ""
"0000016422" "3" "99" "6" "41129295" "41129295" "subst" "2.47007E-5" "00015" "TREM2_000003" "g.41129295G>A" "" "{PMID:Soragna et al. 2003:12754369}, {PMID:Klünemann et al. 2005:15883308}, {PMID:Bock et al. 2013:23399524}" "" "191 C>T" "2 Italian (hom) and 1 Belgian PLOSL family" "SUMMARY record" "yes" "rs104894002" "0" "" "" "g.41161557G>A" "" "pathogenic" ""
"0000016423" "3" "99" "6" "41129260" "41129260" "subst" "1.2267E-5" "00015" "TREM2_000004" "g.41129260C>T" "0/100 CON" "{PMID:Paloneva et al. 2002:12080485}" "" "132G>A" "1 Bolivian PLOSL patient (hom)" "SUMMARY record" "?" "rs104894001" "" "" "" "g.41161522C>T" "" "pathogenic" ""
"0000016424" "3" "99" "6" "41129159" "41129159" "subst" "8.12216E-6" "00015" "TREM2_000005" "g.41129159C>T" "0/100 CON" "{PMID:Paloneva et al. 2002:12080485}" "" "233G>A" "2 Swedish PLOSL families (hom)" "SUMMARY record" "yes" "rs104893998" "" "" "" "g.41161421C>T" "" "pathogenic" ""
"0000016425" "3" "99" "6" "41129125" "41129125" "del" "0" "00015" "TREM2_000006" "g.41129125del" "" "{PMID:Klünemann et al. 2005:15883308}" "" "267delG" "1 French (Turkish) PLOSL family (hom)" "SUMMARY record" "yes" "" "" "" "" "g.41161387del" "" "pathogenic" ""
"0000016426" "3" "99" "6" "41129079" "41129079" "del" "1.2183E-5" "00015" "TREM2_000007" "g.41129079del" "" "{PMID:Klünemann et al. 2005:15883308}" "" "" "1 German PLOSL family (hom)" "SUMMARY record" "yes" "" "" "" "" "g.41161341del" "" "pathogenic" ""
"0000016427" "3" "77" "6" "41129015" "41129015" "subst" "1.21987E-5" "00015" "TREM2_000008" "g.41129015A>C" "" "{PMID:Klünemann et al. 2005:15883308}" "" "" "1 Canadian PLOSL family (hom)" "SUMMARY record" "yes" "rs121908402" "" "" "" "g.41161277A>C" "" "likely pathogenic" ""
"0000016428" "3" "77" "6" "41127611" "41127611" "subst" "4.07282E-6" "00015" "TREM2_000009" "g.41127611T>C" "0/100 CON" "{PMID:Paloneva et al. 2002:12080485}" "" "401A→G" "1 American PLOSL patient (hom)" "SUMMARY record" "yes" "rs28939079" "" "" "" "g.41159873T>C" "" "likely pathogenic" ""
"0000016429" "3" "99" "6" "41127528" "41127528" "subst" "8.12612E-6" "00015" "TREM2_000010" "g.41127528A>G" "0/100 CON" "{PMID:Paloneva et al. 2002:12080485}, {PMID:Numasawa et al. 2011:21834902}" "" "482+2T>C" "1 Italian PLOSL family (hom) and 1 Japanese PLOSL family (hom)" "SUMMARY record" "yes" "" "0" "" "" "g.41159790A>G" "" "pathogenic" ""
"0000016430" "3" "77" "6" "41126729" "41126729" "subst" "0" "00015" "TREM2_000011" "g.41126729C>T" "0/100 CON" "{PMID:Paloneva et al. 2002:12080485}" "" "558G>A, K186N (corr: 558G>T)" "1 Norwegian PLOSL family (hom)\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "SUMMARY record" "yes" "rs28937876" "" "" "" "" "" "likely pathogenic" ""
"0000250377" "0" "10" "6" "41126655" "41126655" "subst" "0.0175201" "02329" "TREM2_000022" "g.41126655A>G" "" "" "" "TREM2(NM_018965.2):c.632T>C (p.(Leu211Pro)), TREM2(NM_018965.4):c.632T>C (p.L211P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41158917A>G" "" "benign" ""
"0000312038" "0" "90" "6" "41129295" "41129295" "subst" "2.47007E-5" "02325" "TREM2_000003" "g.41129295G>A" "" "" "" "TREM2(NM_018965.4):c.97C>T (p.Q33*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41161557G>A" "" "pathogenic" ""
"0000313487" "0" "50" "6" "41129252" "41129252" "subst" "0.00260468" "02329" "TREM2_000020" "g.41129252C>T" "" "" "" "TREM2(NM_001271821.1):c.140G>A (p.(Arg47His)), TREM2(NM_018965.3):c.140G>A (p.R47H), TREM2(NM_018965.4):c.140G>A (p.R47H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41161514C>T" "" "VUS" ""
"0000313488" "0" "10" "6" "41129207" "41129207" "subst" "0.00763315" "02329" "TREM2_000019" "g.41129207C>T" "" "" "" "TREM2(NM_001271821.1):c.185G>A (p.(Arg62His)), TREM2(NM_018965.3):c.185G>A (p.R62H), TREM2(NM_018965.4):c.185G>A (p.R62H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41161469C>T" "" "benign" ""
"0000313489" "0" "10" "6" "41129105" "41129105" "subst" "0.00973377" "02329" "TREM2_000018" "g.41129105G>T" "" "" "" "TREM2(NM_001271821.1):c.287C>A (p.(Thr96Lys)), TREM2(NM_018965.4):c.287C>A (p.T96K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41161367G>T" "" "benign" ""
"0000313490" "0" "30" "6" "41127543" "41127543" "subst" "0.00484163" "02329" "TREM2_000016" "g.41127543G>A" "" "" "" "TREM2(NM_001271821.1):c.469C>T (p.(His157Tyr)), TREM2(NM_018965.4):c.469C>T (p.H157Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41159805G>A" "" "likely benign" ""
"0000313491" "0" "30" "6" "41126773" "41126773" "subst" "2.44276E-5" "02329" "TREM2_000015" "g.41126773G>A" "" "" "" "TREM2(NM_018965.3):c.514C>T (p.P172S), TREM2(NM_018965.4):c.514C>T (p.P172S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41159035G>A" "" "likely benign" ""
"0000313492" "0" "30" "6" "41126472" "41126472" "subst" "0.00462564" "02329" "TREM2_000012" "g.41126472C>T" "" "" "" "TREM2(NM_001271821.1):c.529G>A (p.(Glu177Lys)), TREM2(NM_001271821.2):c.529G>A (p.E177K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41158734C>T" "" "likely benign" ""
"0000313493" "0" "30" "6" "41126506" "41126506" "subst" "4.46806E-5" "02329" "TREM2_000013" "g.41126506G>A" "" "" "" "TREM2(NM_018965.4):c.689C>T (p.T230M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41158768G>A" "" "likely benign" ""
"0000313494" "0" "30" "6" "41129313" "41129313" "subst" "2.46981E-5" "02329" "TREM2_000021" "g.41129313C>T" "" "" "" "TREM2(NM_018965.4):c.79G>A (p.V27M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41161575C>T" "" "likely benign" ""
"0000313495" "0" "90" "6" "41129295" "41129295" "subst" "2.47007E-5" "02329" "TREM2_000003" "g.41129295G>A" "" "" "" "TREM2(NM_018965.4):c.97C>T (p.Q33*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41161557G>A" "" "pathogenic" ""
"0000317024" "0" "10" "6" "41129207" "41129207" "subst" "0.00763315" "01943" "TREM2_000019" "g.41129207C>T" "" "" "" "TREM2(NM_001271821.1):c.185G>A (p.(Arg62His)), TREM2(NM_018965.3):c.185G>A (p.R62H), TREM2(NM_018965.4):c.185G>A (p.R62H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41161469C>T" "" "benign" ""
"0000317025" "0" "30" "6" "41126773" "41126773" "subst" "2.44276E-5" "01943" "TREM2_000015" "g.41126773G>A" "" "" "" "TREM2(NM_018965.3):c.514C>T (p.P172S), TREM2(NM_018965.4):c.514C>T (p.P172S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41159035G>A" "" "likely benign" ""
"0000331012" "0" "30" "6" "41126472" "41126472" "subst" "0.00462564" "01804" "TREM2_000012" "g.41126472C>T" "" "" "" "TREM2(NM_001271821.1):c.529G>A (p.(Glu177Lys)), TREM2(NM_001271821.2):c.529G>A (p.E177K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41158734C>T" "" "likely benign" ""
"0000331014" "0" "30" "6" "41127613" "41127613" "subst" "0.000855669" "01804" "TREM2_000017" "g.41127613C>A" "" "" "" "TREM2(NM_001271821.1):c.399G>T (p.(Leu133=)), TREM2(NM_018965.3):c.399G>T (p.L133=), TREM2(NM_018965.4):c.399G>T (p.L133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41159875C>A" "" "likely benign" ""
"0000331015" "0" "30" "6" "41129207" "41129207" "subst" "0.00763315" "01804" "TREM2_000019" "g.41129207C>T" "" "" "" "TREM2(NM_001271821.1):c.185G>A (p.(Arg62His)), TREM2(NM_018965.3):c.185G>A (p.R62H), TREM2(NM_018965.4):c.185G>A (p.R62H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41161469C>T" "" "likely benign" ""
"0000331017" "0" "50" "6" "41129252" "41129252" "subst" "0.00260468" "01804" "TREM2_000020" "g.41129252C>T" "" "" "" "TREM2(NM_001271821.1):c.140G>A (p.(Arg47His)), TREM2(NM_018965.3):c.140G>A (p.R47H), TREM2(NM_018965.4):c.140G>A (p.R47H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41161514C>T" "" "VUS" ""
"0000528815" "0" "30" "6" "41126619" "41126619" "subst" "0.000824406" "02329" "TREM2_000023" "g.41126619G>A" "" "" "" "TREM2(NM_018965.2):c.668C>T (p.(Thr223Ile)), TREM2(NM_018965.3):c.668C>T (p.T223I), TREM2(NM_018965.4):c.668C>T (p.T223I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41158881G>A" "" "likely benign" ""
"0000528816" "0" "30" "6" "41126655" "41126655" "subst" "0.0175201" "01804" "TREM2_000022" "g.41126655A>G" "" "" "" "TREM2(NM_018965.2):c.632T>C (p.(Leu211Pro)), TREM2(NM_018965.4):c.632T>C (p.L211P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41158917A>G" "" "likely benign" ""
"0000528817" "0" "30" "6" "41126732" "41126732" "subst" "0" "02329" "TREM2_000024" "g.41126732G>A" "" "" "" "TREM2(NM_018965.4):c.555C>T (p.I185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41158994G>A" "" "likely benign" ""
"0000528818" "0" "90" "6" "41126744" "41126744" "subst" "8.12473E-6" "02329" "TREM2_000025" "g.41126744G>T" "" "" "" "TREM2(NM_018965.4):c.543C>A (p.C181*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41159006G>T" "" "pathogenic" ""
"0000528819" "0" "30" "6" "41127580" "41127580" "subst" "2.84523E-5" "02329" "TREM2_000026" "g.41127580G>A" "" "" "" "TREM2(NM_018965.4):c.432C>T (p.P144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41159842G>A" "" "likely benign" ""
"0000528820" "0" "30" "6" "41127613" "41127613" "subst" "0.000855669" "01943" "TREM2_000017" "g.41127613C>A" "" "" "" "TREM2(NM_001271821.1):c.399G>T (p.(Leu133=)), TREM2(NM_018965.3):c.399G>T (p.L133=), TREM2(NM_018965.4):c.399G>T (p.L133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41159875C>A" "" "likely benign" ""
"0000528821" "0" "30" "6" "41127613" "41127613" "subst" "0.000855669" "02329" "TREM2_000017" "g.41127613C>A" "" "" "" "TREM2(NM_001271821.1):c.399G>T (p.(Leu133=)), TREM2(NM_018965.3):c.399G>T (p.L133=), TREM2(NM_018965.4):c.399G>T (p.L133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41159875C>A" "" "likely benign" ""
"0000528822" "0" "30" "6" "41129105" "41129105" "subst" "0.00973377" "01804" "TREM2_000018" "g.41129105G>T" "" "" "" "TREM2(NM_001271821.1):c.287C>A (p.(Thr96Lys)), TREM2(NM_018965.4):c.287C>A (p.T96K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41161367G>T" "" "likely benign" ""
"0000528823" "0" "30" "6" "41129133" "41129133" "subst" "0.000933965" "01804" "TREM2_000027" "g.41129133C>T" "" "" "" "TREM2(NM_001271821.1):c.259G>A (p.(Asp87Asn)), TREM2(NM_018965.4):c.259G>A (p.D87N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41161395C>T" "" "likely benign" ""
"0000528824" "0" "30" "6" "41129133" "41129133" "subst" "0.000933965" "02329" "TREM2_000027" "g.41129133C>T" "" "" "" "TREM2(NM_001271821.1):c.259G>A (p.(Asp87Asn)), TREM2(NM_018965.4):c.259G>A (p.D87N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41161395C>T" "" "likely benign" ""
"0000528825" "0" "30" "6" "41129208" "41129208" "subst" "5.28571E-5" "01943" "TREM2_000028" "g.41129208G>A" "" "" "" "TREM2(NM_018965.3):c.184C>T (p.R62C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41161470G>A" "" "likely benign" ""
"0000528826" "0" "30" "6" "41129252" "41129252" "subst" "0.00260468" "01943" "TREM2_000020" "g.41129252C>T" "" "" "" "TREM2(NM_001271821.1):c.140G>A (p.(Arg47His)), TREM2(NM_018965.3):c.140G>A (p.R47H), TREM2(NM_018965.4):c.140G>A (p.R47H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41161514C>T" "" "likely benign" ""
"0000528827" "0" "30" "6" "41130807" "41130807" "subst" "3.65883E-5" "01804" "TREM2_000029" "g.41130807C>T" "" "" "" "TREM2(NM_001271821.1):c.14G>A (p.(Arg5Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41163069C>T" "" "likely benign" ""
"0000651962" "1" "30" "6" "41129207" "41129207" "subst" "0.00763315" "03575" "TREM2_000019" "g.41129207C>T" "14/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "14 heterozygous, no homozygous; {DB:CLININrs143332484}" "Germline" "" "rs143332484" "0" "" "" "g.41161469C>T" "" "likely benign" ""
"0000651963" "1" "30" "6" "41129252" "41129252" "subst" "0.00260468" "03575" "TREM2_000020" "g.41129252C>T" "2/2773 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs75932628}" "Germline" "" "rs75932628" "0" "" "" "g.41161514C>T" "" "likely benign" ""
"0000655588" "0" "30" "6" "41129219" "41129219" "subst" "4.06908E-6" "01804" "TREM2_000030" "g.41129219C>G" "" "" "" "TREM2(NM_001271821.1):c.173G>C (p.(Gly58Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41161481C>G" "" "likely benign" ""
"0000689732" "0" "30" "6" "41126619" "41126619" "subst" "0.000824406" "01943" "TREM2_000023" "g.41126619G>A" "" "" "" "TREM2(NM_018965.2):c.668C>T (p.(Thr223Ile)), TREM2(NM_018965.3):c.668C>T (p.T223I), TREM2(NM_018965.4):c.668C>T (p.T223I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000689733" "0" "50" "6" "41127532" "41127532" "subst" "0" "01804" "TREM2_000031" "g.41127532G>A" "" "" "" "TREM2(NM_001271821.1):c.480C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000720932" "0" "30" "6" "41126429" "41126429" "subst" "0.00301876" "01804" "TREM2_000032" "g.41126429C>T" "" "" "" "TREM2(NM_001271821.1):c.572G>A (p.(Trp191*)), TREM2(NM_001271821.2):c.572G>A (p.W191*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000802591" "0" "30" "6" "41126395" "41126395" "subst" "0.000256196" "01943" "TREM2_000033" "g.41126395C>A" "" "" "" "TREM2(NM_001271821.1):c.606G>T (p.E202D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000851230" "0" "50" "6" "41126524" "41126524" "subst" "0.000446806" "01943" "TREM2_000034" "g.41126524A>G" "" "" "" "TREM2(NM_001271821.1):c.483-6T>C (p.(=)), TREM2(NM_018965.3):c.677-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000860346" "0" "50" "6" "41126524" "41126524" "subst" "0.000446806" "01804" "TREM2_000034" "g.41126524A>G" "" "" "" "TREM2(NM_001271821.1):c.483-6T>C (p.(=)), TREM2(NM_018965.3):c.677-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000860347" "0" "30" "6" "41127543" "41127543" "subst" "0.00484163" "01804" "TREM2_000016" "g.41127543G>A" "" "" "" "TREM2(NM_001271821.1):c.469C>T (p.(His157Tyr)), TREM2(NM_018965.4):c.469C>T (p.H157Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000860348" "0" "30" "6" "41129104" "41129104" "subst" "8.1215E-6" "01804" "TREM2_000035" "g.41129104C>A" "" "" "" "TREM2(NM_001271821.1):c.288G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000860349" "0" "30" "6" "41129125" "41129125" "subst" "0" "01804" "TREM2_000036" "g.41129125C>G" "" "" "" "TREM2(NM_001271821.1):c.267G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000860350" "0" "90" "6" "41129279" "41129279" "subst" "0" "01804" "TREM2_000037" "g.41129279T>C" "" "" "" "TREM2(NM_001271821.1):c.113A>G (p.(Tyr38Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000887246" "0" "30" "6" "41126619" "41126619" "subst" "0.000824406" "01804" "TREM2_000023" "g.41126619G>A" "" "" "" "TREM2(NM_018965.2):c.668C>T (p.(Thr223Ile)), TREM2(NM_018965.3):c.668C>T (p.T223I), TREM2(NM_018965.4):c.668C>T (p.T223I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000924509" "0" "70" "6" "41129242" "41129242" "subst" "0" "02329" "TREM2_000038" "g.41129242C>A" "" "" "" "TREM2(NM_018965.4):c.150G>T (p.W50C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000924510" "0" "30" "6" "41129337" "41129337" "subst" "4.12923E-6" "01804" "TREM2_000039" "g.41129337G>A" "" "" "" "TREM2(NM_001271821.1):c.55C>T (p.(His19Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000964141" "0" "10" "6" "41126429" "41126429" "subst" "0.00301876" "02329" "TREM2_000032" "g.41126429C>T" "" "" "" "TREM2(NM_001271821.1):c.572G>A (p.(Trp191*)), TREM2(NM_001271821.2):c.572G>A (p.W191*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000977234" "0" "50" "6" "41126405" "41126405" "subst" "1.24384E-5" "01804" "TREM2_000040" "g.41126405A>G" "" "" "" "TREM2(NM_018965.2):c.*97T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000977235" "0" "30" "6" "41126718" "41126718" "subst" "0" "01804" "TREM2_000041" "g.41126718G>A" "" "" "" "TREM2(NM_018965.2):c.569C>T (p.(Ala190Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001025226" "0" "30" "6" "41128974" "41128974" "subst" "0" "01804" "TREM2_000042" "g.41128974C>G" "" "" "" "TREM2(NM_001271821.1):c.391+27G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001035760" "0" "30" "6" "41129048" "41129048" "subst" "8.12321E-6" "01804" "TREM2_000043" "g.41129048C>T" "" "" "" "TREM2(NM_018965.4):c.344G>A (p.(Gly115Asp))" "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 TREM2
## Count = 62
"{{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}}"
"0000016420" "00000288" "99" "40" "0" "40" "0" "c.40G>T" "r.0" "p.0" "1"
"0000016421" "00000288" "77" "40" "4" "40" "6" "c.40+4_40+6del" "r.40+3delagg" "p.=" "1i"
"0000016422" "00000288" "99" "97" "0" "97" "0" "c.97C>T" "r.(97c>u)" "p.(Gln33*)" "2"
"0000016423" "00000288" "99" "132" "0" "132" "0" "c.132G>A" "r.(132g>a)" "p.(Trp44*)" "2"
"0000016424" "00000288" "99" "233" "0" "233" "0" "c.233G>A" "r.(233g>a)" "p.(Trp78*)" "2"
"0000016425" "00000288" "99" "269" "0" "269" "0" "c.269del" "r.(?)" "p.(Gly90Valfs*99)" "2"
"0000016426" "00000288" "99" "313" "0" "313" "0" "c.313del" "r.(?)" "p.(Ala105Argfs*84)" "2"
"0000016427" "00000288" "77" "377" "0" "377" "0" "c.377T>G" "r.(377u>g)" "p.(Val126Gly)" "2"
"0000016428" "00000288" "77" "401" "0" "401" "0" "c.401A>G" "r.(401a>g)" "p.(Asp134Gly)" "3"
"0000016429" "00000288" "99" "482" "2" "482" "2" "c.482+2T>C" "r.[391_482del, 391_677del, 40_482del, 40_677del]" "p.[Asp131_Arg161del, Asp131Alafs*59, Glu14_Arg161del, Glu14Alafs*59]" "3i"
"0000016430" "00000288" "77" "558" "0" "558" "0" "c.558G>T" "r.(558g>u)" "p.(Lys186Asn)" "5"
"0000250377" "00000288" "10" "632" "0" "632" "0" "c.632T>C" "r.(?)" "p.(Leu211Pro)" ""
"0000312038" "00000288" "90" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Gln33Ter)" ""
"0000313487" "00000288" "50" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Arg47His)" ""
"0000313488" "00000288" "10" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.(Arg62His)" ""
"0000313489" "00000288" "10" "287" "0" "287" "0" "c.287C>A" "r.(?)" "p.(Thr96Lys)" ""
"0000313490" "00000288" "30" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(His157Tyr)" ""
"0000313491" "00000288" "30" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Pro172Ser)" ""
"0000313492" "00000288" "30" "723" "0" "723" "0" "c.*30G>A" "r.(=)" "p.(=)" ""
"0000313493" "00000288" "30" "689" "0" "689" "0" "c.689C>T" "r.(?)" "p.(Thr230Met)" ""
"0000313494" "00000288" "30" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Val27Met)" ""
"0000313495" "00000288" "90" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Gln33Ter)" ""
"0000317024" "00000288" "10" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.(Arg62His)" ""
"0000317025" "00000288" "30" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Pro172Ser)" ""
"0000331012" "00000288" "30" "723" "0" "723" "0" "c.*30G>A" "r.(=)" "p.(=)" ""
"0000331014" "00000288" "30" "399" "0" "399" "0" "c.399G>T" "r.(?)" "p.(Leu133=)" ""
"0000331015" "00000288" "30" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.(Arg62His)" ""
"0000331017" "00000288" "50" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Arg47His)" ""
"0000528815" "00000288" "30" "668" "0" "668" "0" "c.668C>T" "r.(?)" "p.(Thr223Ile)" ""
"0000528816" "00000288" "30" "632" "0" "632" "0" "c.632T>C" "r.(?)" "p.(Leu211Pro)" ""
"0000528817" "00000288" "30" "555" "0" "555" "0" "c.555C>T" "r.(?)" "p.(Ile185=)" ""
"0000528818" "00000288" "90" "543" "0" "543" "0" "c.543C>A" "r.(?)" "p.(Cys181Ter)" ""
"0000528819" "00000288" "30" "432" "0" "432" "0" "c.432C>T" "r.(?)" "p.(Pro144=)" ""
"0000528820" "00000288" "30" "399" "0" "399" "0" "c.399G>T" "r.(?)" "p.(Leu133=)" ""
"0000528821" "00000288" "30" "399" "0" "399" "0" "c.399G>T" "r.(?)" "p.(Leu133=)" ""
"0000528822" "00000288" "30" "287" "0" "287" "0" "c.287C>A" "r.(?)" "p.(Thr96Lys)" ""
"0000528823" "00000288" "30" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Asp87Asn)" ""
"0000528824" "00000288" "30" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Asp87Asn)" ""
"0000528825" "00000288" "30" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Cys)" ""
"0000528826" "00000288" "30" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Arg47His)" ""
"0000528827" "00000288" "30" "14" "0" "14" "0" "c.14G>A" "r.(?)" "p.(Arg5Gln)" ""
"0000651962" "00000288" "30" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.(Arg62His)" ""
"0000651963" "00000288" "30" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Arg47His)" ""
"0000655588" "00000288" "30" "173" "0" "173" "0" "c.173G>C" "r.(?)" "p.(Gly58Ala)" ""
"0000689732" "00000288" "30" "668" "0" "668" "0" "c.668C>T" "r.(?)" "p.(Thr223Ile)" ""
"0000689733" "00000288" "50" "480" "0" "480" "0" "c.480C>T" "r.(?)" "p.(Ser160=)" ""
"0000720932" "00000288" "30" "766" "0" "766" "0" "c.*73G>A" "r.(=)" "p.(=)" ""
"0000802591" "00000288" "30" "800" "0" "800" "0" "c.*107G>T" "r.(=)" "p.(=)" ""
"0000851230" "00000288" "50" "677" "-6" "677" "-6" "c.677-6T>C" "r.(=)" "p.(=)" ""
"0000860346" "00000288" "50" "677" "-6" "677" "-6" "c.677-6T>C" "r.(=)" "p.(=)" ""
"0000860347" "00000288" "30" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(His157Tyr)" ""
"0000860348" "00000288" "30" "288" "0" "288" "0" "c.288G>T" "r.(?)" "p.(Thr96=)" ""
"0000860349" "00000288" "30" "267" "0" "267" "0" "c.267G>C" "r.(?)" "p.(Leu89=)" ""
"0000860350" "00000288" "90" "113" "0" "113" "0" "c.113A>G" "r.(?)" "p.(Tyr38Cys)" ""
"0000887246" "00000288" "30" "668" "0" "668" "0" "c.668C>T" "r.(?)" "p.(Thr223Ile)" ""
"0000924509" "00000288" "70" "150" "0" "150" "0" "c.150G>T" "r.(?)" "p.(Trp50Cys)" ""
"0000924510" "00000288" "30" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(His19Tyr)" ""
"0000964141" "00000288" "10" "766" "0" "766" "0" "c.*73G>A" "r.(=)" "p.(=)" ""
"0000977234" "00000288" "50" "790" "0" "790" "0" "c.*97T>C" "r.(=)" "p.(=)" ""
"0000977235" "00000288" "30" "569" "0" "569" "0" "c.569C>T" "r.(?)" "p.(Ala190Val)" ""
"0001025226" "00000288" "30" "391" "27" "391" "27" "c.391+27G>C" "r.(=)" "p.(=)" ""
"0001035760" "00000288" "30" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Gly115Asp)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000295273" "0000651962"
"0000295274" "0000651963"