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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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.

22 entries on 1 page. Showing entries 1 - 22.
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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_6i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - ex 1-7 del - MSH2_000038 - PubMed: Liu 2001, OMIM:var0001 - - Germline yes - - 0 - Johan den Dunnen
+/. _1_6i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - - - MSH2_000038 - PubMed: Liu 2001, OMIM:var0001 - - Germline yes - - 0 - Johan den Dunnen
+/. _1_6i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - - - MSH2_000038 Submitted by ICCon South Australia - - - Germline - - - 0 - ICCon
+/. _1_6i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - del ex1_7, =54 kb - MSH2_000038 - PubMed: van der Klift 2005, Carli Tops - - Germline - - - 0 - Carli Tops
+/. _1_6i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - (?_-68)_1267+?del - MSH2_000038 - - - - Germline - - - 0 - José Luis Soto
+/. _1_6i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - Deletion of Exon 1-7 - MSH2_000038 - PubMed: Zhu 2005 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - Deletion of Exon 1-7 - MSH2_000038 - PubMed: Charbonnier 2002 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - Deletion of Exon 1-7 - MSH2_000038 - PubMed: Gille 2002 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - Deletion of Exon 1-7, >25Kb deletion - MSH2_000038 - PubMed: Taylor 2003 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - Deletion of Exon 1-7 - MSH2_000038 - PubMed: Huang 2004 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - Deletion of Exon 1-7 - MSH2_000038 - PubMed: van der Klift 2005 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - Deletion of Exon 1-7 - MSH2_000038 - PubMed: Zhu 2005 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - Deletion of Exon 1-7 - MSH2_000038 - PubMed: Baudhuin 2005 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - Deletion of Exon 1-7 - MSH2_000038 - PubMed: Zhu 2005 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - Deletion of Exon 1-7 - MSH2_000038 - PubMed: Pastrello 2006 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - Deletion of Exon 1-7 - MSH2_000038 - PubMed: Yan 2000 - - Germline - - - 0 - Michael Woods
+/. _1_7i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - Deletion of Exon 1-7 - MSH2_000038 Authors describe the 26bp Alu core sequence as being located 72bp downstream from the breakpoint. PubMed: Charbonnier 2005; PubMed: Staaf 2008 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - Deletion of Exon 1-7 - MSH2_000038 - PubMed: Zhang 2006 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - Deletion of Exon 1-7 - MSH2_000038 - PubMed: Di Fiore 2004 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - Deletion of Exon 1-7 - MSH2_000038 - PubMed: Overbeek 2007 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - Deletion of Exon 1-7 - MSH2_000038 - PubMed: Bujalkova 2008 - - Germline - - - 0 - Michael Woods
+/. _1_7i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - MSH2 del ex1-7 - MSH2_000038 - PubMed: Slavin 2017 - - Germline - 1/2134 cases BRCA - 0 - Johan den Dunnen
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