Full data view for gene MSH2


Criteria used for classification are available from 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 We encourage submission of relevant unpublished information to assist in the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)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 1_6i c.-823_1076+5984del pathogenic r.spl? p.(=) Unknown g.47629508_47649552del - - - MSH2_001604 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) Unknown g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern, SEQ - - ? - PubMed: van der Klift 2005 - ? - United States Jewish - 0 - - 1 Juul Wijnen
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) Unknown g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern, SEQ - - ? - PubMed: van der Klift 2005 - ? - United States Jewish - 0 - - 1 Juul Wijnen
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) Unknown g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern, SEQ - - ? - PubMed: van der Klift 2005 - ? - United States Jewish - 0 - - 1 Juul Wijnen
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) Unknown g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern, SEQ - - ? - PubMed: van der Klift 2005 - ? - United States Jewish - 0 - - 1 Juul Wijnen
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) Unknown g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern, SEQ - - ? - PubMed: van der Klift 2005 - ? - United States Jewish - 0 - - 1 Juul Wijnen
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) Unknown g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern, SEQ - - ? - PubMed: van der Klift 2005 - ? - United States Jewish - 0 - - 1 Juul Wijnen
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) Unknown g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern, SEQ - - ? - PubMed: van der Klift 2005 - ? - United States Jewish - 0 - - 1 Juul Wijnen
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) Unknown g.47629508_47649552del - Deletion of Exon 1-6, g.5330483_5349647del19165 (NT_034483) - MSH2_001604 - PubMed: Lynch 2004 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) Unknown g.47629508_47649552del - Deletion of Exon 1-6, g.26445441_26465485del20045 (NT_022184) - MSH2_001604 - PubMed: Nakagawa 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) Unknown g.47629508_47649552del - Deletion of Exon 1-6 - MSH2_001604 - PubMed: Baudhuin 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) Unknown g.47629508_47649552del - Deletion of Exon 1-6 - MSH2_001604 - PubMed: Lynch 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) Unknown g.47629508_47649552del - Deletion of Exon 1-6; g.26445441_26465485del20045 - MSH2_001604 - PubMed: Hampel 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) Unknown g.47629508_47649552del - Deletion of Exon 1-6 - MSH2_001604 - PubMed: Clendenning 2008; PubMed: Hampel 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) Unknown g.47629508_47649552del - Deletion of Exon 1-6 - MSH2_001604 - PubMed: Wagner 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
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