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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

12 entries on 1 page. Showing entries 1 - 12.
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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.62C>T r.(?) p.(Ala21Val) InSiGHT pathogenic g.37035100C>T g.36993609C>T - - MLH1_000040 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.62C>T r.(?) p.(Ala21Val) - VUS g.37035100C>T g.36993609C>T - - MLH1_000040 - PubMed: Nilbert 2002 - - Germline - - - 0 - Michael Woods
?/. 1 c.62C>T r.(?) p.(Ala21Val) - VUS g.37035100C>T g.36993609C>T - - MLH1_000040 - PubMed: Cederquist 2004 - - Germline - - - 0 - Michael Woods
?/. 1 c.62C>T r.(?) p.(Ala21Val) - VUS g.37035100C>T g.36993609C>T A21V - MLH1_000040 {GR:479} PubMed: Chao 2008 - - Germline - - - 0 - Rolf Sijmons
+/. 1 c.62C>T r.(?) p.(Ala21Val) - pathogenic g.37035100C>T g.36993609C>T A21V - MLH1_000040 {GR:479} PubMed: Chao 2008 - - Unknown - - - 0 - Rolf Sijmons
-/. 1 c.62C>T r.(?) p.(Ala21Val) - benign g.37035100C>T g.36993609C>T A21V - MLH1_000040 {GR:479} PubMed: Chao 2008 - - Unknown - - - 0 - Rolf Sijmons
+/. 1 c.62C>T r.(?) p.(Ala21Val) - pathogenic g.37035100C>T g.36993609C>T A21V - MLH1_000040 {GR:479} PubMed: Chao 2008 - - Unknown - - - 0 - Rolf Sijmons
+?/. - c.62C>T r.(?) p.(Ala21Val) - likely pathogenic g.37035100C>T g.36993609C>T Missense - MLH1_000040 - PubMed: Cederquist 2004, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+?/. - c.62C>T r.(?) p.(Ala21Val) - likely pathogenic g.37035100C>T g.36993609C>T Missense - MLH1_000040 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+?/. - c.62C>T r.(?) p.(Ala21Val) - likely pathogenic g.37035100C>T g.36993609C>T Missense - MLH1_000040 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+?/. - c.62C>T r.(?) p.(Ala21Val) - likely pathogenic g.37035100C>T g.36993609C>T Missense - MLH1_000040 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.62C>T r.(?) p.(Ala21Val) - pathogenic g.37035100C>T g.36993609C>T - - MLH1_000040 - Sheth, unpublished - - Germline - - - 0 - Harsh Sheth
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