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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

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Owner     
+/. - c.2041G>A r.(?) p.(Ala681Thr) Unknown - pathogenic g.37090446G>A g.37048955G>A MLH1(NM_000249.3):c.2041G>A (p.A681T, p.(Ala681Thr)) - MLH1_000737 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 18 c.2041G>A r.(?) p.Ala681Thr Unknown InSiGHT pathogenic g.37090446G>A g.37048955G>A - - MLH1_000737 Insight class: 5 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.2041G>A r.(?) p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 c.2041G>A hetero; c.1668-19A>G homo Gabriel Capellá and Ignacio Blanco - - Germline - - - - - DNA SEQ, MLPA - - CRC - - - F - - - - - - - 1 INSiGHT group
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - - - - Germline - - - - - DNA SEQ - - ? - - - ? - Romania - - - - - 1 Carli Tops
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - - - - Germline - - - - - DNA SEQ - - ? - - - ? - Finland - - - - - 1 Carli Tops
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - - - - Germline - - - - - DNA SEQ - - ? - - - ? - Netherlands - - - - - 1 Carli Tops
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Hardt 2011 - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Hardt 2011 - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 18 c.2041G>A r.2041g>a p.Ala681Thr Parent #1 - pathogenic g.37090446G>A g.37048955G>A nucelotide 2062; G --> A at 2041 - MLH1_000737 - PubMed: Froggatt 1996 - - Germline - - - - - DNA SEQ - - ? - - - ? - United Kingdom (Great Britain) - - - - - 1 INSiGHT group
+/. 18 c.2041G>A r.2041g>a p.Ala681Thr Parent #1 - pathogenic g.37090446G>A g.37048955G>A G --> A at 2041 - MLH1_000737 - PubMed: Kurzawski 2002,PubMed: Kurzawski 2006,PubMed: Dymerska 2010 - - Germline - - - - - DNA SEQ - - ? - - - ? - Poland - - - - - 1 INSiGHT group
+/. 18 c.2041G>A r.2041g>a p.Ala681Thr Parent #1 - pathogenic g.37090446G>A g.37048955G>A G --> A at 2041 - MLH1_000737 - PubMed: Kurzawski 2002,PubMed: Kurzawski 2006,PubMed: Dymerska 2010 - - Germline - - - - - DNA SEQ - - ? - - - ? - Poland - - - - - 1 INSiGHT group
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Parent #1 - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Hardt 2011 - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - ? - India - - - - - 1 Beate Dr. Betz
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - - - - Germline - - - - - DNA SEQ - - CRC - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - pathogenic g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Barnetson 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - pathogenic g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - pathogenic g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - pathogenic g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - pathogenic g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - pathogenic g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - benign g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - pathogenic g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Raevaara 2005 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - pathogenic g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - benign g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 Authors describe this mutation as neutral, tolerated, benign, and/or deleterious based on various computational algorithms and the in vitro activity as wild type(see supplementary data). PubMed: Chan 2007 - - Unknown - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Jakubowska 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Kurzawski 2002,PubMed: Kurzawski 2006,PubMed: Dymerska 2010 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Raschle 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Kurzawski 2002,PubMed: Kurzawski 2006,PubMed: Dymerska 2010 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Kurzawski 2001,PubMed: Kurzawski 2006,PubMed: Dymerska 2010 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Becouarn 2005,PubMed: Bonadona 2011 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Raevaara 2005 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - - all affected patients mean age at onset is 38;InSiGHT LOVDv2 ID:1007030; ? - - - - - - - 1 Michael Woods
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Giraldo 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Gomez 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Kurzawski 2006,PubMed: Dymerska 2010 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Barnetson 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - pathogenic g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Sheng 2006,PubMed: Sheng 2009 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Ponz de Leon 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Pedroni 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - pathogenic g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Barnetson 2008 - - Germline - 0/1430 controls - - - DNA ? - - HNPCC (Lynch) - - - ? - - - - - - - 1 Michael Woods
-/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - benign g.37090446G>A g.37048955G>A - - MLH1_000737 Functional analysis using the pCAS ex vivo splicing assay demonstrated this variant had no effect. PubMed: Tournier 2008,PubMed: Bonadona 2011 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Chao 2008 - - Germline - - - - - DNA SEQ - - ?, HNPCC (Lynch) - - - ? - United Kingdom (Great Britain) - - - - - 1 Rolf Sijmons
+/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - pathogenic g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Takahashi 2007 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Barnetson 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - pathogenic g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Barnetson 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - benign g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - likely pathogenic g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Hardt 2011 - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
+?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - likely pathogenic g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Hardt 2011 - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
+?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - likely pathogenic g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Hardt 2011 - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
+?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - likely pathogenic g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Hardt 2011 - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
+?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - likely pathogenic g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Hardt 2011 - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
+?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - likely pathogenic g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Hardt 2011 - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - Kurzawska & Kurzawski (unpublished) - - Germline - - - - - DNA SEQ - - ?, HNPCC (Lynch) - - - - - Brazil - - - - - 1 Mev Dominguez Valentin
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A - - MLH1_000737 - - - - Germline - - - - - DNA SEQ - - CRC - - - F - Viet Nam - - - additional info and pedigree - 1 Amie Blanco
?/. 18 c.2041G>A r.(?) p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A 2041G>A hetero - MLH1_000737 - Gabriel Capellá and Ignacio Blanco - - Germline - - - - - DNA SEQ, MLPA - - CRC - - BRAF V600E mutation status: wt; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013350; M - - - - - - - 1 INSiGHT group
?/. 18 c.2041G>A r.(?) p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A 2041G>A - MLH1_000737 - Carli Tops - - Germline - - - - - DNA SEQ - - CRC - - BRAF V600E mutation status: absent; BRAF testing method: not given;InSiGHT LOVDv2 ID:1016700; M - - - - - - - 1 INSiGHT group
?/. 18 c.2041G>A r.(?) p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A 2041G>A - MLH1_000737 - Carli Tops - - Germline - - - - - DNA DGGE, SEQ - - ? - - BRAF V600E mutation status: no info; BRAF testing method: ;InSiGHT LOVDv2 ID:1016701; M - - - - - no - 1 INSiGHT group
?/. 18 c.2041G>A r.(?) p.Ala681Thr Unknown - VUS g.37090446G>A g.37048955G>A 2041G>A - MLH1_000737 - Carli Tops - - Germline - - - - - DNA SEQ - - cancer - - BRAF V600E mutation status: no info; BRAF testing method: ;InSiGHT LOVDv2 ID:1016702;; endometral cancer in family F - - - - - - - 1 INSiGHT group
?/. 18 c.2041G>A r.(?) p.(Ala681Thr) Unknown - VUS g.37090446G>A g.37048955G>A 1668-19A>G + 2041G>A (note, this patient has 2 high priority variants) - MLH1_000737 - Maurizio Genuardi - - Germline - - - - - DNA SEQ - - CRC - - Last known age healthy/unknown disease: 41;InSiGHT LOVDv2 ID:1016737; F - - - - - - - 1 INSiGHT group
+/. 18 c.2041G>A r.(?) p.Ala681Thr Unknown - pathogenic g.37090446G>A g.37048955G>A 2041G>A - MLH1_000737 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
+/. 18 c.2041G>A r.(?) p.Ala681Thr Unknown - pathogenic g.37090446G>A g.37048955G>A 2041G>A - MLH1_000737 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
+/. 18 c.2041G>A r.(?) p.Ala681Thr Unknown - pathogenic g.37090446G>A g.37048955G>A 2041G>A - MLH1_000737 WT MaxEntScan score: 5.34; Variant MaxEntScan score: 5.34; Difference in MaxEntScan score between variant and WT (%): 0 UMD, PubMed: Rossi 2017 - - Germline - - - - - DNA ? - - ? - UMD, PubMed: Rossi 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America - - Chile;Brazil;Colombia - - - - - 7 Mev Dominguez Valentin
+/. - c.2041G>A r.(?) p.Ala681Thr Unknown - pathogenic g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Tricarico 2017 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 - - - Italy - - - - - 1 Maurizio Genuardi
+/. - c.2041G>A r.(?) p.Ala681Thr Unknown - pathogenic g.37090446G>A g.37048955G>A - - MLH1_000737 Control frequency on 160 Italian control chr: 0 PubMed: Tricarico 2017 - - Germline - 0/160 controls - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 - - - Italy - - - - - 1 Maurizio Genuardi
+/. - c.2041G>A r.(?) p.(Ala681Thr) Unknown - pathogenic g.37090446G>A g.37048955G>A missense variants or in frame indels - MLH1_000737 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.2041G>A r.(?) p.(Ala681Thr) Unknown - pathogenic g.37090446G>A g.37048955G>A missense variants or in frame indels - MLH1_000737 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.2041G>A r.(?) p.(Ala681Thr) Unknown - pathogenic g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Iordache 2018 - - Unknown - - - - - DNA SEQ-NG-I buccal swab - CRC - PubMed: Iordache 2018 - M - Romania Romanian - - - - 1 Paul Iordache
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Vo 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Ellison 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Tournier 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Raevaara 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Raevaara 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A - - MLH1_000737 Authors describe this as both non-pathogenic and pathogenic and to have an association with HNPCC. NOTE: Functional assay was done on the corresponding yeast allele A694T . PubMed: Wanat 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Shimodaira 1998 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Guerrette 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Ellison 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Vo 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Kondo 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A - - MLH1_000737 - PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Shimodaira 1998 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Guerrette 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Kondo 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Kondo 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Raevaara 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A A681T - MLH1_000737 {GR:12} PubMed: Raevaara 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.2041G>A r.2041g>a p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A - - MLH1_000737 Authors describe this as both non-pathogenic and pathogenic and to have an association with HNPCC. NOTE: Functional assay was done on the corresponding yeast allele A694T . PubMed: Wanat 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2041G>A r.(?) p.Ala681Thr Unknown - NA g.37090446G>A g.37048955G>A - - MLH1_000737 mRNA assay (SNUPE assay,2015): no effect PubMed: Tricarico 2017 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.2041G>A r.(?) p.(Ala681Thr) Paternal (inferred) - pathogenic g.37090446G>A g.37048955G>A - - MLH1_000737 Insight class: 5 - - - Germline/De novo (untested) - - - - - DNA SEQ - - HNPCC (Lynch) - - - M - Russian Federation - - - - - 1 Grigorij Yanus
+/. - c.2041G>A r.(?) p.(Ala681Thr) Unknown ACMG pathogenic g.37090446G>A g.37048955G>A - - MLH1_000737 ACMG grading: PM2,PP5,PS3,PM5,PP4,PP1; reported in Froggatt 1996. J Med Genet 33: 726; Hinrichsen 2013. Clin Cancer Res 19: 2632; Thompson 2014. Nat Genet 46: 107 - - rs63750217 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
+/. - c.2041G>A r.(?) p.(Ala681Thr) Unknown - pathogenic g.37090446G>A g.37048955G>A MLH1(NM_000249.3):c.2041G>A (p.A681T, p.(Ala681Thr)) - MLH1_000737 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2041G>A r.(?) p.(Ala681Thr) Unknown - pathogenic g.37090446G>A g.37048955G>A - - MLH1_000737 - Sheth, unpublished - - Germline - - - - - DNA SEQ - panel MLH1, MSH2, MSH6, PMS2, EPCAM cancer, colon - Sheth, unpublished - F - India - - - - - 1 Harsh Sheth
+/. - c.2041G>A r.(?) p.(Ala681Thr) Unknown - pathogenic g.37090446G>A - MLH1(NM_000249.3):c.2041G>A (p.A681T, p.(Ala681Thr)) - MLH1_000737 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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