All transcript variants in gene MSH2


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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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_2i c.-4729_367-353del pathogenic r.? p.? g.47625602_47636880del - - - MSH2_000862 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1_2i c.-4729_367-353del pathogenic r.? p.? g.47625602_47636880del - Deletion of Exon 1-2 - MSH2_000862 - PubMed: Pyatt 2003 - - Germline - - - 0 - Michael Woods
+/. 1_2i c.-4729_367-353del pathogenic r.? p.? g.47625602_47636880del - Deletion of Exon 1-2, g.26441535_26452813del11279 (NT_022184) - MSH2_000862 - PubMed: Nakagawa 2003 - - Germline - - - 0 - Michael Woods
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