Full data view for gene MLH1


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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown InSiGHT pathogenic g.37061902A>C g.37020411A>C - - MLH1_000417 Insight class: 5 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - pathogenic g.37061902A>C g.37020411A>C - - MLH1_000417 - PubMed: Hardt 2011 - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Parent #1 - pathogenic g.37061902A>C g.37020411A>C - - MLH1_000417 - PubMed: Lamberti 1999 - - Germline - - - - - DNA SEQ - - ? - - - ? - Germany - - - - - 1 INSiGHT group
?/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - pathogenic g.37061902A>C g.37020411A>C H329P - MLH1_000417 {GR:29} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - pathogenic g.37061902A>C g.37020411A>C H329P - MLH1_000417 {GR:29} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - benign g.37061902A>C g.37020411A>C H329P - MLH1_000417 {GR:29} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - pathogenic g.37061902A>C g.37020411A>C H329P - MLH1_000417 {GR:29} PubMed: Raevaara 2005 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+?/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - likely pathogenic g.37061902A>C g.37020411A>C - - MLH1_000417 Authors describe the in vitro functional analysis as showing an altered localization. PubMed: Lucci-Cordisco 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - VUS g.37061902A>C g.37020411A>C - - MLH1_000417 Authors describe this mutation as neutral, probably damaging, tolerated and/or deleterious based on various computational algorithms and the in vitro activity as loss of function (see supplementary data). PubMed: Chan 2007 - - Unknown - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - VUS g.37061902A>C g.37020411A>C - - MLH1_000417 - PubMed: Wang 1997 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - VUS g.37061902A>C g.37020411A>C - - MLH1_000417 - PubMed: Muller-Koch 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - VUS g.37061902A>C g.37020411A>C - - MLH1_000417 - PubMed: Raschle 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - VUS g.37061902A>C g.37020411A>C - - MLH1_000417 - PubMed: Raevaara 2005 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - - all affected patients mean age at onset is 44;InSiGHT LOVDv2 ID:1005916; ? - - - - - - - 1 Michael Woods
?/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - VUS g.37061902A>C g.37020411A>C - - MLH1_000417 - PubMed: Mangold 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - VUS g.37061902A>C g.37020411A>C - - MLH1_000417 - PubMed: Koehler 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - pathogenic g.37061902A>C g.37020411A>C H329P - MLH1_000417 {GR:29} PubMed: Chao 2008 - - Germline - - - - - DNA SEQ - - ?, HNPCC (Lynch) - - geogr. origin: Germany, age of onset: 32;InSiGHT LOVDv2 ID:1005922; ? - - - - - - - 1 Rolf Sijmons
-/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - benign g.37061902A>C g.37020411A>C H329P - MLH1_000417 {GR:29} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - pathogenic g.37061902A>C g.37020411A>C H329P - MLH1_000417 {GR:29} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - benign g.37061902A>C g.37020411A>C H329P - MLH1_000417 {GR:29} PubMed: Takahashi 2007 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - pathogenic g.37061902A>C g.37020411A>C H329P - MLH1_000417 {GR:29} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - VUS g.37061902A>C g.37020411A>C - - MLH1_000417 - PubMed: Hardt 2011 - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
?/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - VUS g.37061902A>C g.37020411A>C - - MLH1_000417 - PubMed: Hardt 2011 - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
?/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - NA g.37061902A>C g.37020411A>C H329P - MLH1_000417 {GR:29} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - NA g.37061902A>C g.37020411A>C H329P - MLH1_000417 {GR:29} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - NA g.37061902A>C g.37020411A>C H329P - MLH1_000417 {GR:29} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - NA g.37061902A>C g.37020411A>C H329P - MLH1_000417 {GR:29} PubMed: Raevaara 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - NA g.37061902A>C g.37020411A>C H329P - MLH1_000417 {GR:29} PubMed: Raevaara 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - NA g.37061902A>C g.37020411A>C - - MLH1_000417 - PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - NA g.37061902A>C g.37020411A>C H329P - MLH1_000417 {GR:29} PubMed: Raevaara 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.986A>C r.[678_1038del, 791_1038del] p.[Glu227Leufs*20, Arg265Phefs*14] Unknown - NA g.37061902A>C g.37020411A>C H329P - MLH1_000417 {GR:29} PubMed: Raevaara 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
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