Full data view for gene TREM2

Information The variants shown are described using the NM_018965.2 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.14G>A r.(?) p.(Arg5Gln) Unknown - likely benign g.41130807C>T g.41163069C>T TREM2(NM_001271821.1):c.14G>A (p.(Arg5Gln)) - TREM2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.40G>T r.0 p.0 Both (homozygous) - pathogenic g.41130781C>A g.41163043C>A 40G>T, last position of exon 1: r.0 (Glu14Stp) - TREM2_000001 1 German PLOSL patient (hom) PubMed: Paloneva et al. 2003 - - SUMMARY record ? - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1i c.40+4_40+6del r.40+3delagg p.= Both (homozygous) - likely pathogenic g.41130776_41130778del g.41163038_41163040del 40+3delAGG - TREM2_000002 1 Lebanese Maronite PLOSL family (hom); functional studies show significantly-reduced transcription of the allele PubMed: Chouery et al. 2008 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.79G>A r.(?) p.(Val27Met) Unknown - likely benign g.41129313C>T g.41161575C>T TREM2(NM_018965.3):c.79G>A (p.V27M) - TREM2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.97C>T r.(97c>u) p.(Gln33*) Both (homozygous) - pathogenic g.41129295G>A g.41161557G>A 191 C>T - TREM2_000003 2 Italian (hom) and 1 Belgian PLOSL family PubMed: Soragna et al. 2003, PubMed: Klünemann et al. 2005, PubMed: Bock et al. 2013 - rs104894002 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.97C>T r.(?) p.(Gln33Ter) Unknown - pathogenic g.41129295G>A g.41161557G>A TREM2(NM_018965.3):c.97C>T (p.Q33*) - TREM2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.97C>T r.(?) p.(Gln33Ter) Unknown - pathogenic g.41129295G>A g.41161557G>A TREM2(NM_018965.3):c.97C>T (p.Q33*) - TREM2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.132G>A r.(132g>a) p.(Trp44*) Both (homozygous) - pathogenic g.41129260C>T g.41161522C>T 132G>A - TREM2_000004 1 Bolivian PLOSL patient (hom) PubMed: Paloneva et al. 2002 - rs104894001 SUMMARY record ? 0/100 CON - - - - - - - - - - - - - - - - - - - - -
?/. - c.140G>A r.(?) p.(Arg47His) Unknown - VUS g.41129252C>T g.41161514C>T TREM2(NM_018965.3):c.140G>A (p.R47H) - TREM2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.140G>A r.(?) p.(Arg47His) Unknown - likely benign g.41129252C>T g.41161514C>T TREM2(NM_018965.3):c.140G>A (p.R47H) - TREM2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140G>A r.(?) p.(Arg47His) Parent #1 - likely benign g.41129252C>T g.41161514C>T - - TREM2_000020 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75932628 Germline - 2/2773 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
-?/. - c.173G>C r.(?) p.(Gly58Ala) Unknown - likely benign g.41129219C>G g.41161481C>G TREM2(NM_001271821.1):c.173G>C (p.(Gly58Ala)) - TREM2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.184C>T r.(?) p.(Arg62Cys) Unknown - likely benign g.41129208G>A g.41161470G>A TREM2(NM_018965.3):c.184C>T (p.R62C) - TREM2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.185G>A r.(?) p.(Arg62His) Unknown - benign g.41129207C>T g.41161469C>T TREM2(NM_018965.3):c.185G>A (p.R62H) - TREM2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.185G>A r.(?) p.(Arg62His) Unknown - benign g.41129207C>T g.41161469C>T TREM2(NM_018965.3):c.185G>A (p.R62H) - TREM2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.185G>A r.(?) p.(Arg62His) Parent #1 - likely benign g.41129207C>T g.41161469C>T - - TREM2_000019 14 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143332484 Germline - 14/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 14 Mohammed Faruq
+/+ 2 c.233G>A r.(233g>a) p.(Trp78*) Both (homozygous) - pathogenic g.41129159C>T g.41161421C>T 233G>A - TREM2_000005 2 Swedish PLOSL families (hom) PubMed: Paloneva et al. 2002 - rs104893998 SUMMARY record yes 0/100 CON - - - - - - - - - - - - - - - - - - - - -
-?/. - c.259G>A r.(?) p.(Asp87Asn) Unknown - likely benign g.41129133C>T g.41161395C>T TREM2(NM_001271821.1):c.259G>A (p.(Asp87Asn)), TREM2(NM_018965.3):c.259G>A (p.D87N) - TREM2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.259G>A r.(?) p.(Asp87Asn) Unknown - likely benign g.41129133C>T g.41161395C>T TREM2(NM_001271821.1):c.259G>A (p.(Asp87Asn)), TREM2(NM_018965.3):c.259G>A (p.D87N) - TREM2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.269del r.(?) p.(Gly90Valfs*99) Both (homozygous) - pathogenic g.41129125del g.41161387del 267delG - TREM2_000006 1 French (Turkish) PLOSL family (hom) PubMed: Klünemann et al. 2005 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.287C>A r.(?) p.(Thr96Lys) Unknown - likely benign g.41129105G>T g.41161367G>T TREM2(NM_001271821.1):c.287C>A (p.(Thr96Lys)), TREM2(NM_018965.3):c.287C>A (p.T96K) - TREM2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.287C>A r.(?) p.(Thr96Lys) Unknown - likely benign g.41129105G>T g.41161367G>T TREM2(NM_001271821.1):c.287C>A (p.(Thr96Lys)), TREM2(NM_018965.3):c.287C>A (p.T96K) - TREM2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.313del r.(?) p.(Ala105Argfs*84) Both (homozygous) - pathogenic g.41129079del g.41161341del - - TREM2_000007 1 German PLOSL family (hom) PubMed: Klünemann et al. 2005 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.377T>G r.(377u>g) p.(Val126Gly) Both (homozygous) - likely pathogenic g.41129015A>C g.41161277A>C - - TREM2_000008 1 Canadian PLOSL family (hom) PubMed: Klünemann et al. 2005 - rs121908402 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.399G>T r.(?) p.(Leu133=) Unknown - likely benign g.41127613C>A g.41159875C>A TREM2(NM_018965.3):c.399G>T (p.L133=) - TREM2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.399G>T r.(?) p.(Leu133=) Unknown - likely benign g.41127613C>A g.41159875C>A TREM2(NM_018965.3):c.399G>T (p.L133=) - TREM2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.401A>G r.(401a>g) p.(Asp134Gly) Both (homozygous) - likely pathogenic g.41127611T>C g.41159873T>C 401A→G - TREM2_000009 1 American PLOSL patient (hom) PubMed: Paloneva et al. 2002 - rs28939079 SUMMARY record yes 0/100 CON - - - - - - - - - - - - - - - - - - - - -
-?/. - c.432C>T r.(?) p.(Pro144=) Unknown - likely benign g.41127580G>A g.41159842G>A TREM2(NM_018965.3):c.432C>T (p.P144=) - TREM2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.469C>T r.(?) p.(His157Tyr) Unknown - likely benign g.41127543G>A g.41159805G>A TREM2(NM_018965.3):c.469C>T (p.H157Y) - TREM2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.480C>T r.(?) p.(Ser160=) Unknown - VUS g.41127532G>A - TREM2(NM_001271821.1):c.480C>T (p.(=)) - TREM2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3i c.482+2T>C r.[391_482del, 391_677del, 40_482del, 40_677del] p.[Asp131_Arg161del, Asp131Alafs*59, Glu14_Arg161del, Glu14Alafs*59] Both (homozygous) - pathogenic g.41127528A>G g.41159790A>G 482+2T>C - TREM2_000010 1 Italian PLOSL family (hom) and 1 Japanese PLOSL family (hom) PubMed: Paloneva et al. 2002, PubMed: Numasawa et al. 2011 - - SUMMARY record yes 0/100 CON - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.514C>T r.(?) p.(Pro172Ser) Unknown - likely benign g.41126773G>A g.41159035G>A TREM2(NM_018965.3):c.514C>T (p.P172S) - TREM2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.514C>T r.(?) p.(Pro172Ser) Unknown - likely benign g.41126773G>A g.41159035G>A TREM2(NM_018965.3):c.514C>T (p.P172S) - TREM2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.543C>A r.(?) p.(Cys181Ter) Unknown - pathogenic g.41126744G>T g.41159006G>T TREM2(NM_018965.3):c.543C>A (p.C181*) - TREM2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.555C>T r.(?) p.(Ile185=) Unknown - likely benign g.41126732G>A g.41158994G>A TREM2(NM_018965.3):c.555C>T (p.I185=) - TREM2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 5 c.558G>T r.(558g>u) p.(Lys186Asn) Both (homozygous) - likely pathogenic g.41126729C>T - 558G>A, K186N (corr: 558G>T) - TREM2_000011 1 Norwegian PLOSL family (hom) Variant 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. PubMed: Paloneva et al. 2002 - rs28937876 SUMMARY record yes 0/100 CON - - - - - - - - - - - - - - - - - - - - -
-/. - c.632T>C r.(?) p.(Leu211Pro) Unknown - benign g.41126655A>G g.41158917A>G TREM2(NM_018965.2):c.632T>C (p.(Leu211Pro)), TREM2(NM_018965.3):c.632T>C (p.L211P) - TREM2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.632T>C r.(?) p.(Leu211Pro) Unknown - likely benign g.41126655A>G g.41158917A>G TREM2(NM_018965.2):c.632T>C (p.(Leu211Pro)), TREM2(NM_018965.3):c.632T>C (p.L211P) - TREM2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.668C>T r.(?) p.(Thr223Ile) Unknown - likely benign g.41126619G>A g.41158881G>A TREM2(NM_018965.3):c.668C>T (p.T223I) - TREM2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.668C>T r.(?) p.(Thr223Ile) Unknown - likely benign g.41126619G>A - TREM2(NM_018965.3):c.668C>T (p.T223I) - TREM2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.689C>T r.(?) p.(Thr230Met) Unknown - likely benign g.41126506G>A g.41158768G>A TREM2(NM_018965.3):c.689C>T (p.T230M) - TREM2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*30G>A r.(=) p.(=) Unknown - likely benign g.41126472C>T g.41158734C>T TREM2(NM_001271821.1):c.529G>A (p.(Glu177Lys)), TREM2(NM_001271821.2):c.529G>A (p.E177K) - TREM2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*30G>A r.(=) p.(=) Unknown - likely benign g.41126472C>T g.41158734C>T TREM2(NM_001271821.1):c.529G>A (p.(Glu177Lys)), TREM2(NM_001271821.2):c.529G>A (p.E177K) - TREM2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*73G>A r.(=) p.(=) Unknown - likely benign g.41126429C>T - TREM2(NM_001271821.1):c.572G>A (p.(Trp191*)) - TREM2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*107G>T r.(=) p.(=) Unknown - likely benign g.41126395C>A - TREM2(NM_001271821.1):c.606G>T (p.E202D) - TREM2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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