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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

8 entries on 1 page. Showing entries 1 - 8.
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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 c.2T>G r.(?) p.0? InSiGHT pathogenic g.37035040T>G g.36993549T>G - - MLH1_000032 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.2T>G r.(?) p.0? - VUS g.37035040T>G g.36993549T>G - - MLH1_000032 - PubMed: Wang 1997 - - Germline - - - 0 - Michael Woods
?/. 1 c.2T>G r.(?) p.0? - VUS g.37035040T>G g.36993549T>G - - MLH1_000032 - PubMed: Wang 1999 - - Germline - - - 0 - Michael Woods
?/. 1 c.2T>G r.(?) p.0? - VUS g.37035040T>G g.36993549T>G - - MLH1_000032 - PubMed: Kim 2004 - - Germline - - - 0 - Michael Woods
?/. 1 c.2T>G r.(?) p.0? - VUS g.37035040T>G g.36993549T>G p.Met1Arg - MLH1_000032 - PubMed: Auclair 2006 - - Germline - - - 0 - Michael Woods
-/. 1 c.2T>G r.(?) p.0? - NA g.37035040T>G g.36993549T>G M1R - MLH1_000032 {GR:394} PubMed: Auclair 2006 - - In vitro (cloned) - - - 0 - Rolf Sijmons
?/. 1 c.2T>G r.(?) p.0? - NA g.37035040T>G g.36993549T>G - - MLH1_000032 - PubMed: Shimodaira 1998 - - In vitro (cloned) - - - 0 - Michael Woods
+?/. - c.2T>G r.(?) p.(Met1?) - likely pathogenic g.37035040T>G g.36993549T>G - - MLH1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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