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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

7 entries on 1 page. Showing entries 1 - 7.
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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     
+/. - c.67G>T r.(?) p.(Glu23Ter) - pathogenic g.37035105G>T g.36993614G>T - - MLH1_001455 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 1 c.67G>T r.[66_116del, 67g>u] p.[Glu23*, Glu23_Cys39del] InSiGHT pathogenic g.37035105G>T g.36993614G>T - - MLH1_001455 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1 c.67G>T r.[66_116del, 67g>u] p.[Glu23*, Glu23_Cys39del] - pathogenic g.37035105G>T g.36993614G>T G->T at 67 - MLH1_001455 - Norbury (unpublished) - - Germline - - - 0 - INSiGHT group
+/. 1 c.67G>T r.[66_116del, 67g>u] p.[Glu23*, Glu23_Cys39del] - pathogenic g.37035105G>T g.36993614G>T 67G->T - MLH1_001455 - PubMed: Kruger 2002 - - Germline - - - 0 - INSiGHT group
?/. 1 c.67G>T r.[66_116del, 67g>u] p.[Glu23*, Glu23_Cys39del] - VUS g.37035105G>T g.36993614G>T - - MLH1_001455 - PubMed: Mangold 2005 - - Germline - - - 0 - Michael Woods
?/. 1 c.67G>T r.[66_116del, 67g>u] p.[Glu23*, Glu23_Cys39del] - VUS g.37035105G>T g.36993614G>T Authors describe as deletion of last 51 nucleotides resulting in frame deletion of last 17 codons. - MLH1_001455 - PubMed: Baehring 2006 - - Germline - - - 0 - Michael Woods
?/. 1 c.67G>T r.[66_116del, 67g>u] p.[Glu23*, Glu23_Cys39del] - VUS g.37035105G>T g.36993614G>T - - MLH1_001455 - - - - Germline - - - 0 - Rodney Scott
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