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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

15 entries on 1 page. Showing entries 1 - 15.
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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.-823_1076+5984del r.spl? p.(=) - pathogenic g.47629509_47649553del g.47402370_47422414del - - MSH2_001604 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1_6i c.-823_1076+5984del r.spl p.(=) - pathogenic g.47629509_47649553del g.47402370_47422414del del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. 1_6i c.-823_1076+5984del r.spl p.(=) - pathogenic g.47629509_47649553del g.47402370_47422414del del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. 1_6i c.-823_1076+5984del r.spl p.(=) - pathogenic g.47629509_47649553del g.47402370_47422414del del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. 1_6i c.-823_1076+5984del r.spl p.(=) - pathogenic g.47629509_47649553del g.47402370_47422414del del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. 1_6i c.-823_1076+5984del r.spl p.(=) - pathogenic g.47629509_47649553del g.47402370_47422414del del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. 1_6i c.-823_1076+5984del r.spl p.(=) - pathogenic g.47629509_47649553del g.47402370_47422414del del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. 1_6i c.-823_1076+5984del r.spl p.(=) - pathogenic g.47629509_47649553del g.47402370_47422414del del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. 1_6i c.-823_1076+5984del r.spl p.(=) - pathogenic g.47629509_47649553del g.47402370_47422414del Deletion of Exon 1-6, g.5330483_5349647del19165 (NT_034483) - MSH2_001604 - PubMed: Lynch 2004 - - Germline - - - 0 - Michael Woods
+/. 1_6i c.-823_1076+5984del r.spl p.(=) - pathogenic g.47629509_47649553del g.47402370_47422414del Deletion of Exon 1-6, g.26445441_26465485del20045 (NT_022184) - MSH2_001604 - PubMed: Nakagawa 2003 - - Germline - - - 0 - Michael Woods
+/. 1_6i c.-823_1076+5984del r.spl p.(=) - pathogenic g.47629509_47649553del g.47402370_47422414del Deletion of Exon 1-6 - MSH2_001604 - PubMed: Baudhuin 2005 - - Germline - - - 0 - Michael Woods
+/. 1_6i c.-823_1076+5984del r.spl p.(=) - pathogenic g.47629509_47649553del g.47402370_47422414del Deletion of Exon 1-6 - MSH2_001604 - PubMed: Lynch 2006 - - Germline - - - 0 - Michael Woods
+/. 1_6i c.-823_1076+5984del r.spl p.(=) - pathogenic g.47629509_47649553del g.47402370_47422414del Deletion of Exon 1-6; g.26445441_26465485del20045 - MSH2_001604 - PubMed: Hampel 2006 - - Germline - - - 0 - Michael Woods
+/. 1_6i c.-823_1076+5984del r.spl p.(=) - pathogenic g.47629509_47649553del g.47402370_47422414del Deletion of Exon 1-6 - MSH2_001604 - PubMed: Clendenning 2008; PubMed: Hampel 2008 - - Germline - - - 0 - Michael Woods
+/. 1_6i c.-823_1076+5984del r.spl p.(=) - pathogenic g.47629509_47649553del g.47402370_47422414del Deletion of Exon 1-6 - MSH2_001604 - PubMed: Wagner 2003 - - Germline - - - 0 - Michael Woods
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