Full data view for gene TREM2

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

31 entries on 1 page. Showing entries 1 - 31.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 1 c.40G>T - r.0 p.0 Both (homozygous) g.41130781C>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+3_40+5delAGG - r.40+3delagg p.= Both (homozygous) g.41130776_41130778delCCT - 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 likely benign r.(?) p.(Val27Met) Unknown g.41129313C>T - TREM2:c.79G>A (V27M) - TREM2_000021 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.97C>T - r.(97c>u) p.(Gln33*) Both (homozygous) g.41129295G>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 pathogenic r.(?) p.(Gln33*) Unknown g.41129295G>A - TREM2:c.97C>T (Q33*) - TREM2_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.97C>T pathogenic r.(?) p.(Gln33*) Unknown g.41129295G>A - TREM2:c.97C>T (Q33*) - TREM2_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.132G>A - r.(132g>a) p.(Trp44*) Both (homozygous) g.41129260C>T - 132G>A - TREM2_000004 1 Bolivian PLOSL patient (hom) PubMed: Paloneva et al. 2002 - rs104894001 SUMMARY record ? 0/100 CON - - - - - - - - - - - - - - - - - - - - -
?/. - c.140G>A VUS r.(?) p.(Arg47His) Unknown g.41129252C>T - TREM2:c.140G>A (R47H) - TREM2_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.140G>A VUS - - Unknown g.41129252C>T - TREM2:NM_001271821.1:c.140G>A, NM_018965.2:c.140G>A - TREM2_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.140G>A likely benign - - Unknown g.41129252C>T - TREM2:NM_001271821.1:c.140G>A, NM_018965.2:c.140G>A - TREM2_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.185G>A likely benign r.(?) p.(Arg62His) Unknown g.41129207C>T - TREM2:c.185G>A (R62H) - TREM2_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.185G>A benign r.(?) p.(Arg62His) Unknown g.41129207C>T - TREM2:c.185G>A (R62H) - TREM2_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.185G>A VUS - - Unknown g.41129207C>T - TREM2:NM_001271821.1:c.185G>A, NM_018965.2:c.185G>A - TREM2_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.185G>A likely benign - - Unknown g.41129207C>T - TREM2:NM_001271821.1:c.185G>A, NM_018965.2:c.185G>A - TREM2_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.233G>A - r.(233g>a) p.(Trp78*) Both (homozygous) g.41129159C>T - 233G>A - TREM2_000005 2 Swedish PLOSL families (hom) PubMed: Paloneva et al. 2002 - rs104893998 SUMMARY record yes 0/100 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.269delG - r.(269delg) p.(Gly90Valfs*99) Both (homozygous) g.41129123delC - 267delG - TREM2_000006 1 French (Turkish) PLOSL family (hom) PubMed: Klünemann et al. 2005 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.287C>A likely benign r.(?) p.(Thr96Lys) Unknown g.41129105G>T - TREM2:c.287C>A (T96K) - TREM2_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.313delG - r.(313delg) p.(Ala105Argfs*84) Both (homozygous) g.41129079delC - - - 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) g.41129015A>C - - - TREM2_000008 1 Canadian PLOSL family (hom) PubMed: Klünemann et al. 2005 - rs121908402 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.399G>T likely benign - - Unknown g.41127613C>A - TREM2:NM_001271821.1:c.399G>T, NM_018965.2:c.399G>T - TREM2_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.401A>G - r.(401a>g) p.(Asp134Gly) Both (homozygous) g.41127611T>C - 401A→G - TREM2_000009 1 American PLOSL patient (hom) PubMed: Paloneva et al. 2002 - rs28939079 SUMMARY record yes 0/100 CON - - - - - - - - - - - - - - - - - - - - -
-?/. - c.469C>T likely benign r.(?) p.(His157Tyr) Unknown g.41127543G>A - TREM2:c.469C>T (H157Y) - TREM2_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 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) g.41127528A>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 likely benign r.(?) p.(Pro172Ser) Unknown g.41126773G>A - TREM2:c.514C>T (P172S) - TREM2_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.514C>T likely benign r.(?) p.(Pro172Ser) Unknown g.41126773G>A - TREM2:c.514C>T (P172S) - TREM2_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.520T>C likely benign - - Unknown g.41126767A>G - TREM2:NM_001271807.1:c.-4741T>C, NM_001271808.1:c.-4741T>C, … - TREM2_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 5 c.558G>T - r.(558g>u) p.(Lys186Asn) Both (homozygous) g.41126729C>T - 558G>A, K186N (corr: 558G>T) - TREM2_000011 1 Norwegian PLOSL family (hom) PubMed: Paloneva et al. 2002 - rs28937876 SUMMARY record yes 0/100 CON - - - - - - - - - - - - - - - - - - - - -
-?/. - c.632T>C likely benign r.(?) p.(Leu211Pro) Unknown g.41126655A>G - TREM2:c.632T>C (L211P) - TREM2_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.689C>T likely benign r.(?) p.(Thr230Met) Unknown g.41126506G>A - TREM2:c.689C>T (T230M) - TREM2_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*30G>A likely benign r.(=) p.(=) Unknown g.41126472C>T - TREM2:c.529G>A (E177K) - TREM2_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*30G>A likely benign - - Unknown g.41126472C>T - TREM2:NM_001271807.1:c.-4446G>A, NM_001271808.1:c.-4446G>A, … - TREM2_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend