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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

162 entries on 2 pages. Showing entries 1 - 100.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- 16 c.1852_1853delinsGC r.(?) p.(Lys618Ala) Unknown InSiGHT benign g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 Insight class: 1 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 16 c.1852_1853delinsGC r.(?) p.(Lys618Ala) Unknown - benign g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 16 c.1852_1853delinsGC r.(?) p.(Lys618Ala) Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - - - - Germline - - - - - DNA MLPA, SEQ - screen data 2010-01-01 HNPCC (Lynch) - - 2 Gen;?2 sides of family?;3 Cases CRC 39,54,89; F - - - - - - - 1 Ruth Armstrong
?/. 16 c.1852_1853delinsGC r.(?) p.(Lys618Ala) Paternal (confirmed) - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - - - - Germline - - - - - DNA DGGE, SEQ - screen data 2001-01-01 - - - 3 gen ; 5 Case CRC 30,30,54,70,70+ (Amsterdam II) F - - - - - - - 1 Ruth Armstrong
?/. 16 c.1852_1853delinsGC r.(?) p.(Lys618Ala) Maternal (confirmed) - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - - - - Germline - - - - - DNA DGGE, SEQ - screen data 2002-01-01 HNPCC (Lynch) - - 3 gen ; 5 Case CRC 30,30,54,70,70+ (Amsterdam II) F - - - - - - - 1 Ruth Armstrong
?/. 16 c.1852_1853delinsGC r.(?) p.(Lys618Ala) Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC 1852_1853delinsGC - MLH1_000648 - PubMed: Drost 2010 - - Unknown - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 16 c.1852_1853delinsGC r.(?) p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 c.1852_1853delAAinsGC hetero in trans with c.306+5G>A hetero Gabriel Capellá and Ignacio Blanco - - Germline - - - - - DNA SEQ - - CRC - - BRAF V600E mutation status: wt; BRAF testing method: SNuPE;InSiGHT LOVDv2 ID:1013363; M - - - - - - - 1 INSiGHT group
?/. 16 c.1852_1853delinsGC r.(?) p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 MLH1:c.1852_1853delinsGC + PMS2:c.2192_2196del Mensenkamp and Ligtenberg - - Germline - - - - - DNA SEQ - - CRC - - MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016824; M - - - - - - - 1 INSiGHT group
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Liu 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Gille 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Parent #1 - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 This individual also has an alteration in MSH6 c.3202C>T p.Arg1068X (see Supplementary Table 1). PubMed: Steinke 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Parent #1 - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Caldes 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Wijnen 1997 - - Germline - - - - - DNA SEQ - - ? - PubMed: Wijnen,J. ,1997 - ? - Netherlands - - - - - 1 Carli Tops
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - - - - Germline - - - - - DNA SEQ - - ? - - - ? - Netherlands - - - - - 1 Carli Tops
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - - - - Germline - - - - - DNA SEQ - - ? - - CAPP2 study ? - United Kingdom (Great Britain) - - - - - 1 Juul Wijnen
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - - - - Germline - - - - - DNA SEQ - - ? - - CAPP2 study ? - United Kingdom (Great Britain) - - - - - 1 Juul Wijnen
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Hardt 2011 - - Germline - - - - - DNA SEQ - - ? - - CAPP2 study ? - Germany - - - - - 1 Juul Wijnen
-/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - benign g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Hardt 2011 - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - benign g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Hardt 2011 - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - benign g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Hardt 2011 - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Parent #1 - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - Deffenbaugh (unpublished) - - Germline - 0.99 - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Parent #1 - pathogenic g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Caldes 2002 - - Germline - - - - - DNA SEQ - - ? - - - ? - Spain - - - - - 1 INSiGHT group
+/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Parent #1 - pathogenic g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - de la Chapelle (unpublished) - - Germline - - - - - DNA SEQ - - ? - - - ? - United States - - - - - 1 INSiGHT group
+/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Parent #1 - pathogenic g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Farrington 1998 - - Germline - - - - - DNA SEQ - - ? - - - ? - Scotland - - - - - 1 INSiGHT group
+/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Parent #1 - pathogenic g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - Hutter, unpublished - - Germline - - - - - DNA SEQ - - ? - - - ? - Switzerland - - - - - 1 INSiGHT group
+/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Parent #1 - pathogenic g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Mauillon 1996 - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Parent #1 - pathogenic g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - Schischmanoff Pierre Olivier - - Germline - - - - - DNA SEQ - - ? - - - ? - France - - - - - 1 INSiGHT group
+/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Parent #1 - pathogenic g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Tannergard 1995 - - Germline - - - - - DNA SEQ - - ? - - - ? - Sweden - - - - - 1 INSiGHT group
+/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Parent #1 - pathogenic g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Caldes 2002 - - Germline - - - - - DNA SEQ - - ? - - - ? - Spain - - - - - 1 INSiGHT group
+/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Parent #1 - pathogenic g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Weber 1997 - - Germline - - - - - DNA SEQ - - ? - - - ? - United States - - - - - 1 INSiGHT group
+/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Parent #1 - pathogenic g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Wijnen 1997 - - Germline - - - - - DNA SEQ - - ? - - - ? - Netherlands - - - - - 1 INSiGHT group
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Parent #1 - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC 1852_1853AA>GC - MLH1_000648 - PubMed: Hardt 2011 - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - ? - Germany - - - - - 1 Beate Dr. Betz
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC 1852_1853delAAinsGC - MLH1_000648 - - - - Germline - - - - - DNA SEQ - - CRC - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC 1852_1853delAAinsGC - MLH1_000648 - - - - Germline - - - - - DNA SEQ - - CRC - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC 1852AA>GC - MLH1_000648 - - - - Germline - - - - - DNA DGGE, SEQ - - CRC - - - - - Netherlands - - - - - 1 Rolf Sijmons
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC 1852_1853delAAinsGC - MLH1_000648 - - - - Germline - - - - - DNA DHPLC, SEQ - - CRC - - - - - Netherlands - - - - - 1 Hans Gille
-/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - benign g.37089130_37089131delinsGC g.37047639_37047640delinsGC K618A - MLH1_000648 {GR:37} PubMed: Barnetson 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - benign g.37089130_37089131delinsGC g.37047639_37047640delinsGC K618A - MLH1_000648 {GR:37} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - pathogenic g.37089130_37089131delinsGC g.37047639_37047640delinsGC K618A - MLH1_000648 {GR:37} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - pathogenic g.37089130_37089131delinsGC g.37047639_37047640delinsGC K618A - MLH1_000648 {GR:37} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - benign g.37089130_37089131delinsGC g.37047639_37047640delinsGC K618A - MLH1_000648 {GR:37} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - pathogenic g.37089130_37089131delinsGC g.37047639_37047640delinsGC K618A - MLH1_000648 {GR:37} PubMed: Raevaara 2005 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - benign g.37089130_37089131delinsGC g.37047639_37047640delinsGC K618A - MLH1_000648 {GR:37} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - benign g.37089130_37089131delinsGC g.37047639_37047640delinsGC K618A - MLH1_000648 {GR:37} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Parent #2 - pathogenic g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 Authors describe the in vitro functional analysis as showing loss of MMR function. PubMed: Lucci-Cordisco 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Parent #1 - benign g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 Authors describe the in vitro functional analysis as showing normal function. PubMed: Lucci-Cordisco 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Raevaara 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Loader 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 Authors describe the in vitro functional analysis as showing conflicting results (normal function and/or >85% reduction in binding PMS2 and/or loss of MMR function). PubMed: Lucci-Cordisco 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 Authors describe this mutation as neutral, possibly damaging, tolerated 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
+?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - likely pathogenic g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 The in vitro functional analysis as showing deficienct interaction with PMS2 and/or loss of MMR function. PubMed: Lucci-Cordisco 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - benign g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 Authors describe the in vitro functional analysis as showing normal function. PubMed: Lucci-Cordisco 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Weber 1997 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 Somatic PubMed: Yamamoto 1998 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Syngal 1999,PubMed: Mueller 2009 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Wahlberg 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Liu 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 Somatic PubMed: Liu 1999 - - Somatic - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Fidalgo 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Otway 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Salahshor 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Muller-Koch 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Caldes 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Raschle 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Scartozzi 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Ward 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Nilbert 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Gille 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Hudler 2004,PubMed: Hudler 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Caldes 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Fearnhead 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Colombino 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Wolf 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Auclair 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Pinol 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Hegde 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Scott 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Belvederesi 2006 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Hampel 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Blasi 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Bianchi 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - pathogenic g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Papp 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - benign g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Barnetson 2008 - - Germline - 14/1553controls - - - DNA ? - - HNPCC (Lynch) - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 Authors describe this variant as not leading to an increased susceptibility to sporadic colorectal cancer in the Danish population. PubMed: Christensen 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - benign g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 Functional analysis using the pCAS ex vivo splicing assay and RNA analysis demonstrated this variant had no effect. PubMed: Tournier 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Nilbert 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Colombino 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC 1912ÀÜ1913 AA>G - MLH1_000648 - PubMed: Rubio-del-Campo 2008 - - Germline - - - - - DNA ? - - cancer, kidney - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC K618A - MLH1_000648 {GR:37} PubMed: Chao 2008 - - Germline - - - - - DNA SEQ - - ?, HNPCC (Lynch) - - geogr. origin: Sweden, Scotland, The Netherlands, Spain and USA, age of onset: 41, 38, 41, 43, 60 and 77;InSiGHT LOVDv2 ID:1006666; ? - - - - - - - 1 Rolf Sijmons
-/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - benign g.37089130_37089131delinsGC g.37047639_37047640delinsGC K618A - MLH1_000648 {GR:37} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC K618A - MLH1_000648 {GR:37} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - benign g.37089130_37089131delinsGC g.37047639_37047640delinsGC K618A - MLH1_000648 {GR:37} PubMed: Takahashi 2007 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC K618A - MLH1_000648 {GR:37} PubMed: Barnetson 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - benign g.37089130_37089131delinsGC g.37047639_37047640delinsGC K618A - MLH1_000648 {GR:37} PubMed: Barnetson 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC K618A - MLH1_000648 {GR:37} PubMed: Perera 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - benign g.37089130_37089131delinsGC g.37047639_37047640delinsGC K618A - MLH1_000648 {GR:37} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - benign g.37089130_37089131delinsGC g.37047639_37047640delinsGC K618A - MLH1_000648 {GR:37} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - pathogenic g.37089130_37089131delinsGC g.37047639_37047640delinsGC K618A - MLH1_000648 {GR:37} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - PubMed: Colombino 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 16 c.1852_1853delinsGC r.1852_1853delinsGC p.Lys618Ala Unknown - VUS g.37089130_37089131delinsGC g.37047639_37047640delinsGC - - MLH1_000648 - Bapat, unpublished - - Germline - - - - - DNA SEQ - - ? - Mount Sinai Hospital - - - - - - - - - 1 Bharati Bapat
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