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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

81 entries on 1 page. Showing entries 1 - 81.
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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)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - - - MSH2_000235 Submitted by ICCon South Australia - - - Germline - - - 0 - ICCon
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - del ex01-06 - MSH2_000235 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - del ex1_6, =78 kb - MSH2_000235 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - del ex1_6, >25 kb - MSH2_000235 - PubMed: van der Klift 2005, PubMed: Hendriks 2003 - - Germline - - - 0 - Juul Wijnen
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - del ex1_6, =15 kb - MSH2_000235 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - del ex1_6, =41 kb - MSH2_000235 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - del ex1_6, >25 kb - MSH2_000235 - PubMed: van der Klift 2005, PubMed: Hendriks 2003 - - Germline - - - 0 - Juul Wijnen
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - del ex1_6, >25 kb - MSH2_000235 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - del ex01-06 - MSH2_000235 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - del ex01-06 - MSH2_000235 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - del ex01-06 - MSH2_000235 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - ex01_ex06del - MSH2_000235 - - - - Germline - - - 0 - Beate Dr. Betz
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - - - MSH2_000235 - PubMed: van der Klift 2005 - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - ex1-6del - MSH2_000235 - PubMed: van der Klift 2005 - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - - - MSH2_000235 - PubMed: van der Klift 2005 - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - (?_-68)_1076+?del - MSH2_000235 - Leung et al, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - (?_-68)_1076+?del - MSH2_000235 2x: female 49 y C18.0, 47 y C.66 Ureterca, CC MSI-H, IHC loss of MSH2 + MSH6, MLH1 and PMS2 positive, male: 51 y syncr. CC caecum and transversum, no MSA or IHC, Bethesda-pos. Elke Holinski-Feder and Monika Morak - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Exon 1 to Exon 6 1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?) - MSH2_000235 - Desiree du Sart - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Exon 1 to Exon 6 1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?) - MSH2_000235 - Desiree du Sart - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Exon 1 to Exon 6 1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?) - MSH2_000235 - Desiree du Sart - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Exon 1 to Exon 6 1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?) - MSH2_000235 - Desiree du Sart - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Exon 1 to Exon 6 1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?) - MSH2_000235 - Desiree du Sart - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - MSH2:1-?_1076+?del - MSH2_000235 - Ian Frayling, Treena Cranston - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - MSH2:1-?_1076+?del - MSH2_000235 - Ian Frayling, Treena Cranston - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - MSH2:1-?_1076+?del - MSH2_000235 - Ian Frayling - Cardiff - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - deletion exon 1-6 - MSH2_000235 Nº affected carriers / family:1 Gabriel Capellá - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - deletion EPCAM exon 9 (904-?) to MSH2 exon 6 (1076+?) - MSH2_000235 - Desiree du Sart - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - - - MSH2_000235 Authors describe this variant as generating an MSH2 product due the MSH2 staining (although staining was weak) present by immunohistochemistry. Identified in a sib pair with numerous Lynch syndrome cancers in their 30s and 40s. PubMed: Overbeek 2007; PubMed: Kets 2009 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: de Vos 2005 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - codon 153. - MSH2_000235 - PubMed: Bougeard 2003 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - - - MSH2_000235 Authors describe this as being associated with mediastinal T-cell non-Hodgkin lymphoma and glioblastoma. PubMed: Scott 2007 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Grindedal 2009 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Mangold 2007 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Menko 2004 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Huang 2004 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Mangold 2005 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Baudhuin 2005; PubMed: Baudhuin 2005 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: van der Klift 2005 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Stormorken 2005 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Bougeard 2003 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Pastrello 2006 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Yan 2000 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Mangold 2005 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Lynch 2006 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 Authors describe the 26bp Alu core sequence as being located 1bp upstream from the breakpoint. PubMed: Charbonnier 2005 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 Authors describe the 26bp Alu core sequence as being located 31bp upstream from the breakpoint. PubMed: Charbonnier 2005 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 Authors describe the 26bp Alu core sequence as being located at the breakpoint. PubMed: Charbonnier 2005 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 Authors describe the 26bp Alu core sequence as being located 16bp upstream from the breakpoint. PubMed: Charbonnier 2005 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 Authors describe the 26bp Alu core sequence as being located 62bp upstream from the breakpoint. PubMed: Charbonnier 2005 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Kurzawski 2006 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Barnetson 2006 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Pistorius 2007 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Zhang 2006 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Di Fiore 2004 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Pistorius 2007 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Lagerstedt Robinson 2007 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Overbeek 2007 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Martinez-Bouzas 2007 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Staaf 2008 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Urso 2008 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Vaughn 2008 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Mangold 2004 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: South 2008 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Charbonnier 2002 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Schouten 2002 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Wang 2003 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Gille 2002 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Hendriks 2003 - - Germline - - - 0 - Michael Woods
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - - - MSH2_000235 - PubMed: van der Klift 2005 - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - - - MSH2_000235 - PubMed: van der Klift 2005 - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - - - MSH2_000235 - PubMed: van der Klift 2005 - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - - - MSH2_000235 - PubMed: van der Klift 2005 - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - - - MSH2_000235 - PubMed: van der Klift 2005 - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - - - MSH2_000235 - PubMed: van der Klift 2005 - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - - - MSH2_000235 - PubMed: van der Klift 2005 - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - - - MSH2_000235 - PubMed: van der Klift 2005 - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - - - MSH2_000235 - PubMed: van der Klift 2005 - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - - - MSH2_000235 - PubMed: van der Klift 2005 - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - - - MSH2_000235 - PubMed: van der Klift 2005 - - Germline - - - 0 - INSiGHT group
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47643569_47656880)del - (?_-68)_1076+?del - MSH2_000235 WT MaxEntScan score: not determined; Variant MaxEntScan score: not determined; Difference in MaxEntScan score between variant and WT (%): not determined InSiGHT, PubMed: Rossi 2017 - - Germline - - - 0 - Mev Dominguez Valentin
+/. _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - NA g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 - PubMed: Liu 1995 - - In vitro (cloned) - - - 0 - Michael Woods
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