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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

8 entries on 1 page. Showing entries 1 - 8.
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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_4i c.(?_-125)_(792+1_793-1)del r.spl p.Met1_Gln264del - pathogenic g.(?_47630206)_(47639700_47641407)del - - - MSH2_000864 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. _1_4i c.(?_-125)_(792+1_793-1)del r.spl p.Met1_Gln264del - pathogenic g.(?_47630206)_(47639700_47641407)del - Exon 1 to Exon 4 1-?_792+?del p.Met1_Gln264del - MSH2_000864 - Desiree du Sart - - Germline - - - 0 - INSiGHT group
+/. _1_4i c.(?_-125)_(792+1_793-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47639700_47641407)del - Deletion of Exon 1-4 - MSH2_000864 - PubMed: Charbonnier 2002 - - Germline - - - 0 - Michael Woods
+/. _1_4i c.(?_-125)_(792+1_793-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47639700_47641407)del - Deletion of Exon 1-4 - MSH2_000864 - PubMed: Charbonnier 2005 - - Germline - - - 0 - Michael Woods
+/. _1_4i c.(?_-125)_(792+1_793-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47639700_47641407)del - Deletion of Exon 1-4 - MSH2_000864 - PubMed: Di Fiore 2004 - - Germline - - - 0 - Michael Woods
+/. _1_4i c.(?_-125)_(792+1_793-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47639700_47641407)del - Deletion of Exon 1-4 - MSH2_000864 - PubMed: Yan 2008 - - Germline - - - 0 - Michael Woods
+/. _1_4i c.(?_-125)_(792+1_793-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47639700_47641407)del - MSH2:(?_-68)_792+?del breakpoint not tested - MSH2_000864 - Alessandra Viel - - Germline - - - 0 - INSiGHT group
+/. _1_4i c.(?_-125)_(792+1_793-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47639700_47641407)del - MSH2:(?_-68)_792+?del breakpoint not tested - MSH2_000864 - Alessandra Viel - - Germline - - - 0 - INSiGHT group
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