All variants in the MSH2 gene


MSH2 variants classified by the InSiGHT consortium: criteria used for classification are available here. We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.
Information The variants shown are described using the NM_000251.2 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/+ _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - - - MSH2_000238 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - - - MSH2_000238 Submitted by ICCon South Australia - - - Germline - - - 0 - ICCon
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - Deletion of Exon 1-8 - MSH2_000238 - PubMed: Charbonnier 2002 - - Germline - - - 0 - Michael Woods
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - Deletion of Exon 1-8, >34Kb Deletion - MSH2_000238 - PubMed: Taylor 2003 - - Germline - - - 0 - Michael Woods
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - Deletion of Exon 1-8 - MSH2_000238 - PubMed: Ainsworth 2004 - - Germline - - - 0 - Michael Woods
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - Deletion of Exon 1-8 - MSH2_000238 - PubMed: Bunyan 2004 - - Germline - - - 0 - Michael Woods
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - Deletion of Exon 1-8 - MSH2_000238 - PubMed: Baudhuin 2005 - - Germline - - - 0 - Michael Woods
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - Deletion of Exon 1-8 - MSH2_000238 Authors describe the 26bp Alu core sequence as being located 31bp downstream of the breakpoint. PubMed: Charbonnier 2005 - - Germline - - - 0 - Michael Woods
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - Deletion of Exon 1-8 - MSH2_000238 - PubMed: Baudhuin 2005 - - Germline - - - 0 - Michael Woods
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - Deletion of Exon 1-8 - MSH2_000238 - PubMed: Pastrello 2006 - - Germline - - - 0 - Michael Woods
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - Deletion of Exon 1-8 - MSH2_000238 - PubMed: Spaepen 2006 - - Germline - - - 0 - Michael Woods
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - Deletion of Exon 1-8 - MSH2_000238 - PubMed: De Lellis 2006 - - Germline - - - 0 - Michael Woods
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - Deletion of Exon 1-8 - MSH2_000238 - PubMed: Pistorius 2007 - - Germline - - - 0 - Michael Woods
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - Deletion of Exon 1-8 - MSH2_000238 - PubMed: Di Fiore 2004 - - Germline - - - 0 - Michael Woods
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - Deletion of Exon 1-8 - MSH2_000238 - PubMed: Pistorius 2007 - - Germline - - - 0 - Michael Woods
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - Deletion of Exon 1-8 - MSH2_000238 - PubMed: Lagerstedt Robinson 2007 - - Germline - - - 0 - Michael Woods
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - Deletion of Exon 1-8 - MSH2_000238 - PubMed: Staaf 2008 - - Germline - - - 0 - Michael Woods
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - - - MSH2_000238 del ex01-ex08 - - - Germline - - - 0 - Elke Holinski-Feder
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - - - MSH2_000238 - - - - Germline - - - 0 - Amanda Spurdle
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - (?_-68)_1386+?del - MSH2_000238 - Mark Jenkins; John Hopper - - Germline - - - 0 - INSiGHT group
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - (?_-68)_1386+?del - MSH2_000238 - Noralane Lindor and Steve Thibodeau - - Germline - - - 0 - INSiGHT group
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - (?_-68)_1386+?del - MSH2_000238 - Maurizio Genuardi - - Germline - - - 0 - INSiGHT group
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - (?_-68)_1386+?del - MSH2_000238 1x female 53 y urethalCa, 54 y endometrial polyp, 55 y Uterusca, 56 y CC Coecum, MSI-H, IHC loss of MSH2 + MSH6, MLH1 positive, mutationpositive daughter : 29 J Coecum-CA pT3, pN2, pM1, Bethesda-pos. Elke Holinski-Feder and Monika Morak - - Germline - - - 0 - INSiGHT group
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - (?_-68)_1386+?del - MSH2_000238 - Kristina Lagerstedt Robinson - - Germline - - - 0 - INSiGHT group
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - Exon 1 to Exon 8 1-?_1386+?del p.Met1_Gln462del - MSH2_000238 - Desiree du Sart - - Germline - - - 0 - INSiGHT group
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - MSH2:1-?_1386+?del - MSH2_000238 - Ian Frayling - Cardiff - - Germline - - - 0 - INSiGHT group
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - MSH2:1-?_1386+?del - MSH2_000238 - Ian Frayling - Cardiff - - Germline - - - 0 - INSiGHT group
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - MSH2:1-?_1386+?del - MSH2_000238 - Ian Frayling - Edinburgh - - Germline - - - 0 - INSiGHT group
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - (?_-68)_1386+?del/Del exon 1-8 - MSH2_000238 - - - - Germline - - - 0 - Thomas Hansen
+/. _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - (?_-68)_1386+?del - MSH2_000238 - - - - De novo - - - 0 - Ian Frayling
Legend   How to query