All variants in the MLH1 gene


MLH1 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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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_000249.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? InSiGHT pathogenic g.(?_37034841)_(37038201_37042445)del - - - MLH1_001607 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? - VUS g.(?_37034841)_(37038201_37042445)del - Deletion of Exon 1-2 - MLH1_001607 - PubMed: Zhang 2006,PubMed: Gylling 2009 - - Germline - - - 0 - Michael Woods
?/. _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? - VUS g.(?_37034841)_(37038201_37042445)del - Deletion of Exon 1-2 - MLH1_001607 - PubMed: Baudhuin 2005 - - Germline - - - 0 - Michael Woods
?/. _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? - VUS g.(?_37034841)_(37038201_37042445)del - (?_-198)_207+?del - MLH1_001607 2 index patients: male 41 y C. asc. Ca T3No , other female 46 y CC C18.9, no IHC, both Bethesda-pos. Elke Holinski-Feder and Monika Morak - - Germline - - - 0 - INSiGHT group
?/. _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? - NA g.(?_37034841)_(37038201_37042445)del - Deletion of Exon 1-2 - MLH1_001607 Identified in DU145 cell line. PubMed: Bertholon 2006 - - In vitro (cloned) - - - 0 - Michael Woods
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