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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

11 entries on 1 page. Showing entries 1 - 11.
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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     
+/+ 1 c.62C>T r.(?) p.(Ala21Val) Unknown InSiGHT pathogenic g.37035100C>T g.36993609C>T - - MLH1_000040 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.62C>T r.(?) p.(Ala21Val) Unknown - VUS g.37035100C>T g.36993609C>T - - MLH1_000040 - PubMed: Nilbert 2002 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.62C>T r.(?) p.(Ala21Val) Unknown - VUS g.37035100C>T g.36993609C>T - - MLH1_000040 - PubMed: Cederquist 2004 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.62C>T r.(?) p.(Ala21Val) Unknown - VUS g.37035100C>T g.36993609C>T A21V - MLH1_000040 {GR:479} PubMed: Chao 2008 - - Germline - - - 0 - DNA SEQ - - ?, HNPCC - - - ? - Sweden - - 0 - - 1 Rolf Sijmons
+/. 1 c.62C>T r.(?) p.(Ala21Val) Unknown - pathogenic g.37035100C>T g.36993609C>T A21V - MLH1_000040 {GR:479} PubMed: Chao 2008 - - Unknown - - - 0 - DNA SEQ - - - - - - ? - - - - 0 - - 1 Rolf Sijmons
-/. 1 c.62C>T r.(?) p.(Ala21Val) Unknown - benign g.37035100C>T g.36993609C>T A21V - MLH1_000040 {GR:479} PubMed: Chao 2008 - - Unknown - - - 0 - DNA SEQ - - - - - - ? - - - - 0 - - 1 Rolf Sijmons
+/. 1 c.62C>T r.(?) p.(Ala21Val) Unknown - pathogenic g.37035100C>T g.36993609C>T A21V - MLH1_000040 {GR:479} PubMed: Chao 2008 - - Unknown - - - 0 - DNA SEQ - - - - - - ? - - - - 0 - - 1 Rolf Sijmons
+?/. - c.62C>T r.(?) p.(Ala21Val) Unknown - likely pathogenic g.37035100C>T g.36993609C>T Missense - MLH1_000040 - PubMed: Cederquist 2004, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Cederquist 2004, PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+?/. - c.62C>T r.(?) p.(Ala21Val) Unknown - likely pathogenic g.37035100C>T g.36993609C>T Missense - MLH1_000040 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+?/. - c.62C>T r.(?) p.(Ala21Val) Unknown - likely pathogenic g.37035100C>T g.36993609C>T Missense - MLH1_000040 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+?/. - c.62C>T r.(?) p.(Ala21Val) Unknown - likely pathogenic g.37035100C>T g.36993609C>T Missense - MLH1_000040 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
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