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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

94 entries on 1 page. Showing entries 1 - 94.
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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     
+/. - c.199G>A r.(?) p.(Gly67Arg) Unknown - pathogenic g.37038192G>A g.36996701G>A MLH1(NM_000249.4):c.199G>A (p.G67R) - MLH1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.199G>A r.(?) p.(Gly67Arg) Unknown - pathogenic g.37038192G>A g.36996701G>A MLH1(NM_000249.4):c.199G>A (p.G67R) - MLH1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.199G>A r.(?) p.(Gly67Arg) Unknown InSiGHT pathogenic g.37038192G>A g.36996701G>A - - MLH1_000108 Insight class: 5 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.199G>A r.(?) p.(Gly67Arg) Unknown - pathogenic g.37038192G>A g.36996701G>A - - MLH1_000108 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 2 c.199G>A r.(?) p.(Gly67Arg) Unknown - pathogenic g.37038192G>A g.36996701G>A - - MLH1_000108 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Gabriel Capella
?/. 2 c.199G>A r.(?) p.(Gly67Arg) Unknown - VUS g.37038192G>A g.36996701G>A 199G>A - MLH1_000108 - PubMed: Drost 2010 - - Unknown - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Drost 2010 - - Germline - - - - - DNA SEQ - - ? - - - ? - Netherlands - - - - - 1 Carli Tops
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A G67R - MLH1_000108 - PubMed: Wagner 2003 - - Germline - - - - - DNA SEQ - - ? - PubMed: Wagner,A. 2002 CAPP2 study ? - United States - - - - - 1 Juul Wijnen
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Hardt 2011,PubMed: Mangold 2005 - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Hardt 2011,PubMed: Mangold 2005 - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 2 c.199G>A r.199g>a p.Gly67Arg Parent #1 - pathogenic g.37038192G>A g.36996701G>A G -> A at 199 - MLH1_000108 - PubMed: Heinimann 1999 - - Germline - - - - - DNA SEQ - - ? - - - ? - Switzerland - - - - - 1 INSiGHT group
+/. 2 c.199G>A r.199g>a p.Gly67Arg Parent #1 - pathogenic g.37038192G>A g.36996701G>A G -> A at 199 - MLH1_000108 - PubMed: Herfarth 1997 - - Germline - - - - - DNA SEQ - - ? - - - ? - United States - - - - - 1 INSiGHT group
+/. 2 c.199G>A r.199g>a p.Gly67Arg Parent #1 - pathogenic g.37038192G>A g.36996701G>A G -> A at 199 - MLH1_000108 - Krepelova (unpublished) - - Germline - - - - - DNA SEQ - - ? - - - ? - Czech Republic - - - - - 1 INSiGHT group
+/. 2 c.199G>A r.199g>a p.Gly67Arg Parent #1 - pathogenic g.37038192G>A g.36996701G>A G -> A at 199 - MLH1_000108 - PubMed: Sasaki 1997 - - Germline - - - - - DNA SEQ - - ? - - - ? - Japan - - - - - 1 INSiGHT group
+/. 2 c.199G>A r.199g>a p.Gly67Arg Parent #1 - pathogenic g.37038192G>A g.36996701G>A G -> A at 199 - MLH1_000108 - PubMed: Tannergard 1995 - - Germline - - - - - DNA SEQ - - ? - - - ? - Sweden - - - - - 1 INSiGHT group
+/. 2 c.199G>A r.199g>a p.Gly67Arg Parent #1 - pathogenic g.37038192G>A g.36996701G>A G ->A at 199 - MLH1_000108 - PubMed: Hutter 1998 - - Germline - - - - - DNA SEQ - - ? - - - ? - Switzerland - - - - - 1 INSiGHT group
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - - - - Germline - - - - - DNA DGGE, SEQ - - CRC - - - - - Netherlands - - - - - 1 Rolf Sijmons
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - benign g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Raevaara 2005 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - benign g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Raevaara 2005,PubMed: Thompson 2013,PubMed: Arnold 2009 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - - all affected patients mean age on onset:36;InSiGHT LOVDv2 ID:1004412; ? - - - - - - - 1 Michael Woods
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A - - MLH1_000108 Authors describe the in vitro functional analysis as showing loss of MMR function. PubMed: Lucci-Cordisco 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 Authors describe this mutation as probably damaging 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
+?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - likely pathogenic g.37038192G>A g.36996701G>A - - MLH1_000108 Results from site-directed mutagenesis. Authors found G67R had distinct effects on MMR function, cancer and meiosis. PubMed: Avdievich 2008 - - Unknown - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A - - MLH1_000108 Authors describe this variant as deleterious based on the MAPP-MMR prediction and based on the classification criteria. PubMed: Chao 2008 - - Germline - - - - - DNA ? - - ?, HNPCC (Lynch) - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Sasaki 1997 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Ravnik-Glavac 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Raschle 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Palicio 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Nilbert 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Young 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Wagner 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Cederquist 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Kim 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Casey 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Halvarsson 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Huang 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Alazzouzi 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Auclair 2006,PubMed: Bonadona 2011 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Yuan 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Kurzawski 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Wang 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Blasi 2006 - - Germline - 0/440 controls - - - DNA ? - - HNPCC (Lynch) - - 1 colorectal tumor tested; colorectal cancer patient;InSiGHT LOVDv2 ID:1004939; ? - - - - - - - 1 Michael Woods
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Lagerstedt Robinson 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A - - MLH1_000108 Authors describe this variant as causing complete loss of MLH1 protein expression. PubMed: Ewald 2007,PubMed: Bonadona 2011 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Fan 2007 - - Germline - 0/112 controls - - - DNA ? - - HNPCC (Lynch) - - - ? - - - - - - - 1 Michael Woods
-/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - benign g.37038192G>A g.36996701G>A - - MLH1_000108 Functional analysis using the pCAS ex vivo splicing assay demonstrated this variant had no effect. PubMed: Tournier 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Shen 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Takahashi 2007 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Wahlberg 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Hardt 2011,PubMed: Mangold 2005 - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - - - - Germline - - - - - DNA SEQ - - CRC - - - F - Spain white - - no - 1 Javier Garcia-Planells
?/. 2 c.199G>A r.(?) p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: De Lellis 2013 - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - - - Italy - - - - - 1 Laura De Lellis
?/. 2 c.199G>A r.(?) p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A 199G>A - MLH1_000108 Variant Allele: Maternal Inferred José Luis Soto - - Germline - - - - - DNA SEQ - - CRC - - - F - - - - - - - 1 INSiGHT group
?/. 2 c.199G>A r.(?) p.Gly67Arg Unknown - VUS g.37038192G>A g.36996701G>A 199G>A - MLH1_000108 - Mensenkamp and Ligtenberg - - Germline - - - - - DNA SEQ - - CRC - - MLH1 Methylation: no methylation; Method: MS-MLPA; Last known age healthy/unknown disease: 65;InSiGHT LOVDv2 ID:1016830; M - - - - - - - 1 INSiGHT group
+/. 2 c.199G>A r.(?) p.Gly67Arg Unknown - pathogenic g.37038192G>A g.36996701G>A 199G>A - MLH1_000108 WT MaxEntScan score: 10.45; Variant MaxEntScan score: 10.45; Difference in MaxEntScan score between variant and WT (%): 0 InSiGHT, PubMed: Rossi 2017 - - Germline - - - - - DNA ? - - ? - InSiGHT, PubMed: Rossi 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America - - Argentina - - - - - 1 Mev Dominguez Valentin
+/. - c.199G>A r.(?) p.(Gly67Arg) Unknown - pathogenic g.37038192G>A g.36996701G>A Missense - MLH1_000108 - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/. - c.199G>A r.(?) p.(Gly67Arg) Unknown - pathogenic g.37038192G>A g.36996701G>A missense variants or in frame indels - MLH1_000108 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Ellison 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Tournier 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Blasi 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Blasi 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Blasi 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Auclair 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Lastella 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Raevaara 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Raevaara 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Shimodaira 1998 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Ellison 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Kondo 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Lastella 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A - - MLH1_000108 - PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Shimodaira 1998 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Kondo 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Kondo 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Raevaara 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Raevaara 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Fan 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Fan 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.199G>A r.199g>a p.Gly67Arg Unknown - NA g.37038192G>A g.36996701G>A G67R - MLH1_000108 {GR:26} PubMed: Shcherbakova et al, 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.199G>A r.(?) p.(Gly67Arg) Unknown - pathogenic g.37038192G>A g.36996701G>A - - MLH1_000108 - - - - Germline/De novo (untested) - gnomAD NA - - - DNA SEQ - year test performed: 2018, 7 gene ', Lynch-like', panel includes MLH1, MSH2, MSH6 and PMS2 CRC - - - M - (United Kingdom (Great Britain)) - - - - - 1 Treena Cranston
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