Full data view for gene MLH1

Information The variants shown are described using the NM_000249.3 transcript reference sequence.

8023 entries on 81 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

InSiGHT Class     

Splicing/transcript expression     

Allele     

DNA change (genomic) (hg19)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Date     

Template     

Technique     

Tissue     

Method     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Remarks     

Family History     

Pedigree information available     

Selection criteria for proband testing     

Panel size     

Owner     
?/? 1 c.37G>A - r.(?) p.(Glu13Lys) - - Unknown g.37035075G>A - Haraldsdottir et al. Accepted into Nature Communications MLH1_001879 0.06 Carrier frequency in Iceland (%): 0.06; Odds ratio for CRC (95%CI): 0.94 (0.22-4.12) Germline (inherited) - 2015-01-01 ? ? - The whole genomes of 8,453 Icelanders, irrespective of cancer status, were sequenced using Illumina technology to a mean depth of at least 10X, unveiling 31.6 million single nucleotide polymorphisms (SNP) and short insertions/deletions that meet stringent quality criteria. These variants were imputed into 150,656 Icelanders whose DNA had been genotyped with various Illumina SNP chips and phased using long-range phasing. Imputation of 31.6 million variants based on WGS of 8,453 Icelanders. All patients with dMMR CRC diagnosed 2000-2009 had germline DNA genotyped for MMR variants found by WGS of the 8,435 Icelanders. If one of three founder mutations were not found they underwent WGS. CRC Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - 1 Sigurdis Haraldsdottir
?/? 1 c.65G>C - r.(?) p.(Gly22Ala) - - Unknown g.37035103G>C - Haraldsdottir et al. Accepted into Nature Communications MLH1_001732 0.07 Carrier frequency in Iceland (%): 0.07; Odds ratio for CRC (95%CI): 0.78 (0.33-1.88) Germline (inherited) - 2015-01-01 ? ? - The whole genomes of 8,453 Icelanders, irrespective of cancer status, were sequenced using Illumina technology to a mean depth of at least 10X, unveiling 31.6 million single nucleotide polymorphisms (SNP) and short insertions/deletions that meet stringent quality criteria. These variants were imputed into 150,656 Icelanders whose DNA had been genotyped with various Illumina SNP chips and phased using long-range phasing. Imputation of 31.6 million variants based on WGS of 8,453 Icelanders. All patients with dMMR CRC diagnosed 2000-2009 had germline DNA genotyped for MMR variants found by WGS of the 8,435 Icelanders. If one of three founder mutations were not found they underwent WGS. CRC Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - 1 Sigurdis Haraldsdottir
?/? 10 c.802G>C - r.(?) p.(Glu268Gln) - - Unknown g.37059008G>C - Haraldsdottir et al. Accepted into Nature Communications MLH1_001901 0.08 Carrier frequency in Iceland (%): 0.08; Odds ratio for CRC (95%CI): 1.6 (0.51-5.07) Germline (inherited) - 2015-01-01 ? ? - The whole genomes of 8,453 Icelanders, irrespective of cancer status, were sequenced using Illumina technology to a mean depth of at least 10X, unveiling 31.6 million single nucleotide polymorphisms (SNP) and short insertions/deletions that meet stringent quality criteria. These variants were imputed into 150,656 Icelanders whose DNA had been genotyped with various Illumina SNP chips and phased using long-range phasing. Imputation of 31.6 million variants based on WGS of 8,453 Icelanders. All patients with dMMR CRC diagnosed 2000-2009 had germline DNA genotyped for MMR variants found by WGS of the 8,435 Icelanders. If one of three founder mutations were not found they underwent WGS. CRC Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - 1 Sigurdis Haraldsdottir
?/? 10 c.821A>G - r.(?) p.(Lys274Arg) - - Unknown g.37059027A>G - Haraldsdottir et al. Accepted into Nature Communications MLH1_001903 0.22 Carrier frequency in Iceland (%): 0.22; Odds ratio for CRC (95%CI): 0.78 (0.33-1.88) Germline (inherited) - 2015-01-01 ? ? - The whole genomes of 8,453 Icelanders, irrespective of cancer status, were sequenced using Illumina technology to a mean depth of at least 10X, unveiling 31.6 million single nucleotide polymorphisms (SNP) and short insertions/deletions that meet stringent quality criteria. These variants were imputed into 150,656 Icelanders whose DNA had been genotyped with various Illumina SNP chips and phased using long-range phasing. Imputation of 31.6 million variants based on WGS of 8,453 Icelanders. All patients with dMMR CRC diagnosed 2000-2009 had germline DNA genotyped for MMR variants found by WGS of the 8,435 Icelanders. If one of three founder mutations were not found they underwent WGS. CRC Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - 1 Sigurdis Haraldsdottir
?/? ? c.? Balanced translocation r.(?) p.? - - Unknown g.36998760_? - Haraldsdottir et al. Accepted into Nature Communications MLH1_000000 - Balanced translocation. Found in 1 family Germline (inherited) - 2015-01-01 ? SEQ - WGS, confirmed by karyotyping and FISH CRC Haraldsdottir et al. Accepted into Nature Communications M Iceland - - Bethesda+, Amsterdam+ - CRC diagnosed 2000-2009 1 Sigurdis Haraldsdottir
?/+ 11i_19_ c.(1038+1_1039-1)_(*193_?)del - r.? p.? Class 5 - Unknown g.(37061955_37067127)_(37092337_?)del - - MLH1_000912 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:11338; - - - 1 Prof. Dr. med. Peter Propping
+/+ 11i_19_ c.(1038+1_1039-1)_(*193_?)del del ex12-19 r.? p.? Class 5 - Unknown g.(37061955_37067127)_(37092337_?)del - - MLH1_000912 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:11338; - - - 1 Prof. Dr. med. Peter Propping
+/+ 12i_19_ c.(1409+1_1410-1)_(*193_?)del del ex13-19 r.? p.? Class 5 - Unknown g.(37067499_37070274)_(37092337_?)del - - MLH1_000504 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:10743; - - - 1 Prof. Dr. med. Peter Propping
?/+ 12i_19_ c.(1409+1_1410-1)_(*193_?)del Deletion of Exon 13-19 r.? p.? Class 5 - Unknown g.(37067499_37070274)_(37092337_?)del - Mangold et al., 2005 MLH1_000504 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1006160; - - - 1 Michael Woods
?/+ 12i_19_ c.(1409+1_1410-1)_(*193_?)del Deletion of Exon 13-19 r.? p.? Class 5 - Unknown g.(37067499_37070274)_(37092337_?)del - Mangold et al., 2005 MLH1_000504 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1006161; - - - 1 Michael Woods
?/+ 13i_19_ c.(1558+1_1559-1)_(*193_?)del Deletion of Exon 14-19 r.? p.? Class 5 - Unknown g.(37070424_37081676)_(37092337_?)del - Wang et al., 2003 MLH1_001136 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007660; - - - 1 Michael Woods
?/+ 13i_19_ c.(1558+1_1559-1)_(*193_?)del Deletion of Exon 14-19 r.? p.? Class 5 - Unknown g.(37070424_37081676)_(37092337_?)del - Staaf et al., 2008,Halvarsson et al., 2006 MLH1_001136 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007661; - - - 1 Michael Woods
?/+ 15i_19_ c.(1731+1_1732-1)_(*193_?)del c.1732-?_2271+?del (Del ex16-19 (15 Kb del) r.? p.Glu578_X757del Class 5 - Unknown g.(37083823_37089009)_(37092337_?)del - {microatt:1000292, José Luis Soto} MLH1_001572 - Variant Allele: Paternal Inferred Germline (inherited) - - DNA MLPA, arrayCGH - - CRC - M - - InSiGHT LOVDv2 ID:1013555; AM I - - 1 InSiGHT group
?/+ 15i_19_ c.(1731+1_1732-1)_(*193_?)del Deletion of Exon 16-19 (>3.5kb) r.? p.? Class 5 - Unknown g.(37083823_37089009)_(37092337_?)del - Taylor et al., 2003 MLH1_001572 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007719; - - - 1 Michael Woods
?/+ 15i_19_ c.(1731+1_1732-1)_(*193_?)del Deletion of Exon 16-19 r.? p.? Class 5 - Unknown g.(37083823_37089009)_(37092337_?)del - Baudhuin et al., 2005 MLH1_001572 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007721; - - - 1 Michael Woods
?/+ 15i_19_ c.(1731+1_1732-1)_(*193_?)del Deletion of Exon 16-19 r.? p.? Class 5 - Unknown g.(37083823_37089009)_(37092337_?)del - South et al., 2008 MLH1_001572 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007722; - - - 1 Michael Woods
?/+ 15i_19_ c.(1731+1_1732-1)_(*193_?)del Deletion of Exon 16-19; Authors describe this as c.1732+?_c.2268. r.? p.? Class 5 - Unknown g.(37083823_37089009)_(37092337_?)del - Nilbert et al., 2008 MLH1_001572 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007723; - - - 1 Michael Woods
?/+ 15i_19_ c.(1731+1_1732-1)_(*193_?)del Deletion of Exon 16-19 r.? p.? Class 5 - Unknown g.(37083823_37089009)_(37092337_?)del - Vaughn et al., 2008 MLH1_001572 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007724; - - - 1 Michael Woods
+/+ 15i_19_ c.(1731+1_1732-1)_(*193_?)del Deletion of Exon 16-19 (>3.5kb) r.? p.? Class 5 - Unknown g.(37083823_37089009)_(37092337_?)del - Taylor et al., 2003, Genuardi et al., (unpublished) MLH1_001572 - - Germline (inherited) - - DNA MLPA - - Lynch Syndrome - M IT Caucasian InSiGHT LOVDv2 ID:1013087; AII+; Additional info: yes; Pedigree available: no No Unknown 1 MAURIZIO GENUARDI
?/+ 17i_19_ c.(1989+1_1990-1)_(*193_?)del del Ex18-19, >3.4kb r.? p.? Class 5 - Unknown g.(37090101_37090394)_(37092337_?)del - van der Klift et al., 2005 MLH1_000763 - - Germline (inherited) - - DNA Southern - - ? van der Klift, H.et al. 2005 ? AU - InSiGHT LOVDv2 ID:6180; - - - 1 Juul Wijnen
?/+ 18i_19_ c.(2103+1_2104-1)_(*193_?)del Deletion of Exon 19 r.? p.? Class 5 - Unknown g.(37090509_37091976)_(37092337_?)del - Soravia et al., 2001 MLH1_001267 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007836; - - - 1 Michael Woods
?/? 18i_19_ c.(2103+1_2104-1)_(*193_?)dup Duplication of Exon 19 r.? p.? Class 3 - Unknown g.(37090509_37091976)_(37092337_?)dup - Zhu et al., 2005 MLH1_001268 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007837; - - - 1 Michael Woods
+/+ 3i_19_ c.(306+1_307-1)_(*193_?)del del ex04-19 r.? p.? Class 5 - Unknown g.(37042545_37045891)_(37092337_?)del - - MLH1_001007 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:11336; - - - 1 Prof. Dr. med. Peter Propping
?/+ 3i_19_ c.(306+1_307-1)_(*193_?)del Deletion of Exon 4-19 r.? p.? Class 5 - Unknown g.(37042545_37045891)_(37092337_?)del - Boyer et al., 1995 MLH1_001007 - - In vitro (cloned) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007474; - - - 1 Michael Woods
?/+ 10i_19i c.(884+1_885-1)_(*193_?)del Deletion of Exon 11-19 r.? p.? Class 5 - Unknown g.(37059091_37061800)_(37092337_?)del - van der Klift et al., 2005 MLH1_000424 - - Germline (inherited) - - DNA Southern - - ? van der Klift, H.et al. 2005 ? UK - InSiGHT LOVDv2 ID:6174; - - - 1 Juul Wijnen
+/+ _1_19_ c.(?_-198)_(*193_?)del - r.0? p.0? Class 5 - Parent #1 g.(?_37034841)_(37092337_?)del - Zidan et al., 2007 MLH1_001571 - part or all of the MLH1 gene missing Germline (inherited) - - DNA MLPA - - ? - ? - - InSiGHT LOVDv2 ID:104; - - - 1 Michael Woods
?/+ _1_19_ c.(?_-198)_(*193_?)del del Ex1-19, >57kb r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37092337_?)del - van der Klift et al., 2005 MLH1_001571 - - Germline (inherited) - - DNA Southern - - ? van der Klift, H.et al. 2005 ? NL - InSiGHT LOVDv2 ID:6168; - - - 1 Juul Wijnen
?/+ _1_19_ c.(?_-198)_(*193_?)del Deletion of MLH1 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37092337_?)del - Salahshor et al., 2001 MLH1_001571 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007363; - - - 1 Michael Woods
?/+ _1_19_ c.(?_-198)_(*193_?)del Deletion of MLH1 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37092337_?)del - Gille et al., 2002 MLH1_001571 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007364; - - - 1 Michael Woods
?/+ _1_19_ c.(?_-198)_(*193_?)del Deletion of MLH1 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37092337_?)del - van der Klift et al., 2005 MLH1_001571 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007365; - - - 1 Michael Woods
?/+ _1_19_ c.(?_-198)_(*193_?)del Deletion of Exon 1-19 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37092337_?)del - Di Fiore et al., 2004 MLH1_001571 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007366; - - - 1 Michael Woods
+/+ _1_19_ c.(?_-198)_(*193_?)del - r.0? p.0? Class 5 - Paternal (confirmed) g.(?_37034841)_(37092337_?)del - {microatt:1000236, Maurizio Genuardi} MLH1_001571 - c.1668-19A>G + c.(?_-373)_(108+?)del this variant segregates with phenotype in 1 family member Germline (inherited) - - DNA MLPA - - Lynch Syndrome - F IT Caucasian InSiGHT LOVDv2 ID:1013093; B+; Additional info: yes; Pedigree available: yes; Yes Call (screening) 1 MAURIZIO GENUARDI
?/+ _1_19_ c.(?_-198)_(*193_?)del c.1-?_2271+?del (Del ex01-19) r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37092337_?)del - {microatt:1000290, José Luis Soto} MLH1_001571 - - Germline (inherited) - - DNA MLPA - - CRC - M - - BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013553; Bethesda - - 1 InSiGHT group
?/+ _1_19_ c.(?_-198)_(*193_?)del c.1-?_2271+?del (Del ex01-19 (123 Kb del)) r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37092337_?)del - {microatt:1000291, José Luis Soto} MLH1_001571 - Variant Allele: Maternal Inferred Germline (inherited) - - DNA MLPA, arrayCGH - - CRC - M - - MLH1 Methylation: Negative; Method: MS-MLPA;InSiGHT LOVDv2 ID:1013554; AM I - - 1 InSiGHT group
+/+ - c.(?_-198)_(*193_?)del c.1-?_2271+?del Whole gene deletion r.(?) p.? Class 5 - Unknown g.37034841_37092337del - Lagerstedt-Robinson et al. 2016 chr3_000041 - - Germline (inherited) - - DNA ? - - Lynch Syndrome Lagerstedt-Robinson et al. 2016 - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/+ - c.(?_-198)_(*193_?)del c.1-?_2271+?del Whole gene deletion r.(?) p.? Class 5 - Unknown g.37034841_37092337del - Lagerstedt-Robinson et al. 2016 chr3_000041 - - Germline (inherited) - - DNA ? - - Lynch Syndrome Lagerstedt-Robinson et al. 2016 - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/+ - c.(?_-198)_(*193_?)del c.1-?_2271+?del Whole gene deletion r.(?) p.? Class 5 - Unknown g.37034841_37092337del - Lagerstedt-Robinson et al. 2016 chr3_000041 - - Germline (inherited) - - DNA ? - - Lynch Syndrome Lagerstedt-Robinson et al. 2016 - Sweden - - - - - 1 Kristina Lagerstedt Robinson
?/+ _1_11i c.(?_-198)_(1038+1_1039-1)del Exon 1 to Exon 11 (c.1-?_1038+?del) r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37061955_37067127)del - {microatt:1003328, Desiree du Sart} MLH1_001667 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016453; - - - 1 InSiGHT group
?/+ _1_1i c.(?_-198)_(116+1_117-1)del Deletion of Exon 1 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37035155_37038109)del - Zhu et al., 2005 MLH1_000941 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007348; - - - 1 Michael Woods
?/+ _1_1i c.(?_-198)_(116+1_117-1)del Deletion of Exon 1 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37035155_37038109)del - Barnetson et al., 2006 MLH1_000941 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007349; - - - 1 Michael Woods
?/+ _1_1i c.(?_-198)_(116+1_117-1)del Deletion of Exon 1 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37035155_37038109)del - De Lellis et al., 2006 MLH1_000941 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007350; - - - 1 Michael Woods
?/? _1_1i c.(?_-198)_(116+1_117-1)dup Duplication of Exon 1 r.0? p.0? Class 3 - Unknown g.(?_37034841)_(37035155_37038109)dup - Zhu et al., 2005 MLH1_000942 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007351; - - - 1 Michael Woods
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del Deletion of Exon 1-13 r.0? p.0? Class 5 - Parent #2 g.(?_37034841)_(37070424_37081676)del - Wagner et al., 2003 MLH1_000013 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:31; - - - 1 Michael Woods
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del del Ex1-13 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37070424_37081676)del - van der Klift et al., 2005 MLH1_000013 - - Germline (inherited) - - DNA Southern - - ? van der Klift, H.et al. 2005 ? US - InSiGHT LOVDv2 ID:6169; - - - 1 Juul Wijnen
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del Deletion of Exon 1-13 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37070424_37081676)del - Baudhuin et al., 2005 MLH1_000013 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007353; - - - 1 Michael Woods
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del Deletion of Exon 1-13 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37070424_37081676)del - Vaughn et al., 2008 MLH1_000013 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007354; - - - 1 Michael Woods
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del Exon 1 to Exon 13 c.1-?_1588+?del p.Met1Phefs*15 (reported as p.Met1_Val520>Phefs*15) r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37070424_37081676)del - {microatt:1003122, Desiree du Sart} MLH1_000013 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016249; - - - 1 InSiGHT group
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del c.(?_-198)_1558+?del r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37070424_37081676)del - {microatt:1000382, Robert HaileTherese Teitsch} MLH1_000013 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1013616; - - - 1 InSiGHT group
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del c.(?_-198)_1558+?del r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37070424_37081676)del - {microatt:1000508, Robert HaileTherese Teitsch} MLH1_000013 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1013741; 2 families, 4 affected carriers & 3 affected carriers - - 1 InSiGHT group
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del c.(?_-198)_1558+?del r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37070424_37081676)del - {microatt:1000545, Polly Newcomb and John Potter} MLH1_000013 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1013778; - - - 1 InSiGHT group
?/+ _1_15i c.(?_-198)_(1731+1_1732-1)del Deletion of Exon 1-15 r.0? p.0? Class 5 - Parent #1 g.(?_37034841)_(37083823_37089009)del - Pistorius et al., 2007 MLH1_001614 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:42; - - - 1 Michael Woods
?/+ _1_15i c.(?_-198)_(1731+1_1732-1)del Deletion of Exon 1-15 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37083823_37089009)del - Nilbert et al., 2002 MLH1_001614 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007355; - - - 1 Michael Woods
?/+ _1_15i c.(?_-198)_(1731+1_1732-1)del Deletion of Exon 1-15 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37083823_37089009)del - Mangold et al., 2005 MLH1_001614 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007356; - - - 1 Michael Woods
?/+ _1_15i c.(?_-198)_(1731+1_1732-1)del Deletion of Exon 1-15 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37083823_37089009)del - Lagerstedt Robinson et al., 2007 MLH1_001614 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007357; - - - 1 Michael Woods
?/+ _1_15i c.(?_-198)_(1731+1_1732-1)del Deletion of Exon 1-15 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37083823_37089009)del - Staaf et al., 2008 MLH1_001614 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007358; - - - 1 Michael Woods
+/+ _1_15i c.(?_-198)_(1731+1_1732-1)del del ex1-15 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37083823_37089009)del - - MLH1_001614 - - Germline (inherited) - - DNA MLPA - - CRC - M SE caucasian InSiGHT LOVDv2 ID:1008390; AI+ - - 1 Kristina Lagerstedt Robinson
?/+ _1_15i c.(?_-198)_(1731+1_1732-1)del c.(?_-198)_1731+?del r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37083823_37089009)del - {microatt:1002770, Kristina Lagerstedt Robinson},Lagerstedt Robinson et al., 2007,Nilbert et al., 2002 MLH1_001614 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016003; - - - 1 InSiGHT group
?/+ _1_2i c.(?_-198)_(207+1_208-1)del Deletion of Exon 1-2 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37038201_37042445)del - Zhang et al., 2006,Gylling et al., 2009 MLH1_001607 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007360; - - - 1 Michael Woods
?/+ _1_2i c.(?_-198)_(207+1_208-1)del Deletion of Exon 1-2 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37038201_37042445)del - Baudhuin et al., 2005 MLH1_001607 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007361; - - - 1 Michael Woods
?/+ _1_2i c.(?_-198)_(207+1_208-1)del Deletion of Exon 1-2 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37038201_37042445)del - Bertholon et al., 2006 MLH1_001607 - Identified in DU145 cell line. In vitro (cloned) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007362; - - - 1 Michael Woods
?/+ _1_2i c.(?_-198)_(207+1_208-1)del c.(?_-198)_207+?del r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37038201_37042445)del - {microatt:1002741, Elke Holinski-Feder and Monika Morak} MLH1_001607 - 2 index patients: male 41 y C. asc. Ca T3No , other female 46 y CC C18.9, no IHC, both Bethesda-pos. Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1015974; - - - 1 InSiGHT group
?/+ _1_3i c.(?_-198)_(306+1_307-1)del Deletion of Exon 1-3 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37042545_37045891)del - Spaepen et al., 2006 MLH1_000946 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007367; - - - 1 Michael Woods
+/+ _1_3i c.(?_-198)_(306+1_307-1)del Deletion of Exon 1-3 r.0? p.0? Class 5 - Maternal (confirmed) g.(?_37034841)_(37042545_37045891)del - Spaepen et al., 2006 Genuardi et al., (unpublished) MLH1_000946 - - Germline (inherited) - - DNA MLPA - - Lynch Syndrome - M IT Caucasian InSiGHT LOVDv2 ID:1013085; AII+; Additional info: yes; Pedigree available: yes; Yes Unknown 1 MAURIZIO GENUARDI
?/+ _1_4i c.(?_-198)_(380+1_381-1)del c.1-?_388+?del (Del ex01-04 (80 Kb del)) r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37045966_37048481)del - {microatt:1000289, José Luis Soto} MLH1_001570 - Variant Allele: Maternal Inferred Germline (inherited) - - DNA MLPA, arrayCGH - - CRC - F - - InSiGHT LOVDv2 ID:1013552; AM II - - 1 InSiGHT group
?/+ _1_6i c.(?_-198)_(545+1_546-1)del Deletion of Exon 1-6 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37050397_37053310)del - Taylor et al., 2003 MLH1_001724 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007368; - - - 1 Michael Woods
?/+ _1_6i c.(?_-198)_(545+1_546-1)del MLH1 exon 1-6 del phase unknown r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37050397_37053310)del - - MLH1_001724 - - Germline (inherited) - - DNA MLPA - - ? - - - - InSiGHT LOVDv2 ID:1012986; - - - 1 Mark Jenkins
?/+ _1_6i c.(?_-198)_(545+1_546-1)del Exon 1 to Exon 6 c.1-?_545+?del p.Met1Valfs*9 (reported as p.Met1_Arg182>Valfs*9) r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37050397_37053310)del - {microatt:1002973, Desiree du Sart} MLH1_001724 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016100; Amsterdam: Positive - - 1 InSiGHT group
?/+ _1_6i c.(?_-198)_(545+1_546-1)del Exon 1 to Exon 6 c.1-?_545+?del p.Met1Valfs*9 (reported as p.Met1_Arg182>Valfs*9) r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37050397_37053310)del - {microatt:1003076, Desiree du Sart} MLH1_001724 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016203; - - - 1 InSiGHT group
?/+ _1_6i c.(?_-198)_(545+1_546-1)del - r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37050397_37053310)del - {microatt:1003406, Mark Jenkins} MLH1_001724 - MLH1:c.1569G>T; MLH1:c.(?_-198)_545+?del (in cis) Germline (inherited) - - DNA ? - - ? - - - - InSiGHT LOVDv2 ID:1016530; - - - 1 InSiGHT group
+/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion E1-10 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37059091_37061800)del - - MLH1_000949 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:10596; - - - 1 Prof. Dr. med. Peter Propping
+/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion E1-10 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37059091_37061800)del - - MLH1_000949 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:10605; - - - 1 Prof. Dr. med. Peter Propping
+/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion E1-10 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37059091_37061800)del - - MLH1_000949 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:10650; - - - 1 Prof. Dr. med. Peter Propping
+/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion E1-10 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37059091_37061800)del - - MLH1_000949 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:10739; - - - 1 Prof. Dr. med. Peter Propping
+/+ _1_10i c.(?_-198)_(884+1_885-1)del ex01_ex10del r.0? p.0? Class 5 - Parent #1 g.(?_37034841)_(37059091_37061800)del - - MLH1_000949 - - Germline (inherited) - - DNA SEQ - - Lynch Syndrome - ? DE - InSiGHT LOVDv2 ID:12697; - - - 1 Beate Dr. Betz
?/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion of Exon 1-10 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37059091_37061800)del - Wang et al., 2002 MLH1_000949 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007370; - - - 1 Michael Woods
?/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion of Exon 1-10 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37059091_37061800)del - Wang et al., 2003 MLH1_000949 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007371; - - - 1 Michael Woods
?/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion of Exon 1-10 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37059091_37061800)del - Grabowski et al., 2005 MLH1_000949 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007372; - - - 1 Michael Woods
?/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion of Exon 1-10 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37059091_37061800)del - Mangold et al., 2005 MLH1_000949 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007373; - - - 1 Michael Woods
?/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion of Exon 1-10 r.0? p.0? Class 5 - Unknown g.(?_37034841)_(37059091_37061800)del - Mangold et al., 2005 MLH1_000949 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007374; - - - 1 Michael Woods
+/+ - c.(?_-198)_1731+?del c.1-?_1731+?del Deletion exons 1–15 r.(?) p.? Class 5 - Unknown g.37034841_37083822del - Lagerstedt Robinson et al. 2007, Lagerstedt-Robinson et al. 2016 chr3_000040 - - Germline (inherited) - - DNA ? - - Lynch Syndrome Lagerstedt Robinson et al. 2007, Lagerstedt-Robinson et al. 2016 - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/+ - c.(?_-198)_306+?del c.1-?_306+?del Deletion exons 1–3 r.(?) p.? Class 5 - Unknown g.37034841_37042544del - Lagerstedt-Robinson et al. 2016 chr3_000039 - - Germline (inherited) - - DNA ? - - Lynch Syndrome Lagerstedt-Robinson et al. 2016 - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/+ - c.(?_-198)_306+?del c.1-?_306+?del Deletion exons 1–3 r.(?) p.? Class 5 - Unknown g.37034841_37042544del - Lagerstedt-Robinson et al. 2016 chr3_000039 - - Germline (inherited) - - DNA ? - - Lynch Syndrome Lagerstedt-Robinson et al. 2016 - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/+ - c.(?_-198)_306+?del c.1-?_306+?del Deletion exons 1–3 r.(?) p.? Class 5 - Unknown g.37034841_37042544del - Lagerstedt-Robinson et al. 2016 chr3_000039 - - Germline (inherited) - - DNA ? - - Lynch Syndrome Lagerstedt-Robinson et al. 2016 - Sweden - - - - - 1 Kristina Lagerstedt Robinson
?/? 19 c.*167T>A Authors describe this as A>T at 2438 r.(?) p.(=) Class 3 - Unknown g.37092311T>A - Wang et al., 2005 MLH1_001053 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007540; - - - 1 Michael Woods
?/? 19 c.*167T>A - r.(?) p.(=) Class 3 - Unknown g.37092311T>A - Wang et al., 2006 MLH1_001053 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007541; - - - 1 Michael Woods
?/- 19 c.*2926C>T - r.(?) p.(=) Class 1 - Unknown g.37095070C>T - Schafmayer et al., 2007 MLH1_001054 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007542; - - - 1 Michael Woods
?/- 19 c.*2926C>T - r.(?) p.(=) Class 1 - Unknown g.37095070C>T - {dsSNP10849} MLH1_001054 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007543; - - - 1 Michael Woods
?/- 19 c.*35_*37del Authors describe this as c.2268+33_2268+35delTTC. r.(?) p.(=) Class 1 - Parent #1 g.37092179_37092181del - Steinke et al., 2008 MLH1_001056 - This individual also has an alteration in MSH6 c.3261dupC p.Phe1068LeufsX5 (see Supplementary Table 1). Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:88; - - - 1 Michael Woods
?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 - Parent #1 g.37092179_37092181del - Tinat et al., 2008 MLH1_001056 - Authors describe this variant as not being the cause alteration in Lynch syndrome. This individual also had a mutation in MSH2 Exon 5 (c.793-?_942+?del). Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:89; - - - 1 Michael Woods
?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 - Parent #1 g.37092179_37092181del - Tinat et al., 2008 MLH1_001056 - Authors suggest this clincial presentation does not suggest an biallelic inactivation of a MMR gene. Germline (inherited) - - ? ? - - cancer, endometrial, cancer, rectal - ? - - InSiGHT LOVDv2 ID:146; - - - 1 Michael Woods
?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 - Parent #2 g.37092179_37092181del - Tinat et al., 2008 MLH1_001056 - Authors suggest this clincial presentation does not suggest an biallelic inactivation of a MMR gene. Germline (inherited) - - ? ? - - cancer, endometrial, cancer, rectal - ? - - InSiGHT LOVDv2 ID:146; - - - 1 Michael Woods
-?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 - Unknown g.37092179_37092181del - - MLH1_001056 - - Germline (inherited) - - DNA SEQ - - CRC - M NL - InSiGHT LOVDv2 ID:5811; - - - 1 Carli Tops
-?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 - Unknown g.37092179_37092181del - - MLH1_001056 - - Germline (inherited) - - DNA SEQ - - ? - ? NL - InSiGHT LOVDv2 ID:10239; - - - 1 Carli Tops
?/- 19 c.*35_*37del del ttc at 2268+33 r.(?) p.(=) Class 1 - Parent #1 g.37092179_37092181del - Hutter et al., (unpublished) MLH1_001056 - - Germline (inherited) - - DNA SEQ - - ? - ? CH - InSiGHT LOVDv2 ID:12173; A? - - 1 InSiGHT group
?/- 19 c.*35_*37del del ttc at 2268+33 r.(?) p.(=) Class 1 - Parent #1 g.37092179_37092181del - Viel et al., 1997 MLH1_001056 17989 - Germline (inherited) - - DNA SEQ - - ? - ? IT - InSiGHT LOVDv2 ID:12174; A? - - 1 InSiGHT group
?/- 19 c.*35_*37del del ttc at 2268+33 r.(?) p.(=) Class 1 - Parent #1 g.37092179_37092181del - Weber et al., 1997 MLH1_001056 - - Germline (inherited) - - DNA SEQ - - ? - ? US - InSiGHT LOVDv2 ID:12175; A? - - 1 InSiGHT group
?/- 19 c.*35_*37del *+35delCTT r.(?) p.(=) Class 1 - Unknown g.37092179_37092181del - - MLH1_001056 - - Germline (inherited) - - DNA SEQ - - CRC - - Netherlands - InSiGHT LOVDv2 ID:41006; - - - 1 Ans van den Ouweland
?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 - Unknown g.37092179_37092181del - Fredriksson et al., 2006 MLH1_001056 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007275; - - - 1 Michael Woods
-/- 19 c.*35_*37del - r.(?) p.(=) Class 1 - Unknown g.37092179_37092181del - Tinat et al., 2008 MLH1_001056 - Authors describe this variant as not being the cause alteration in Lynch syndrome. Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007276; - - - 1 Michael Woods
?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 - Unknown g.37092179_37092181del - Viel et al., 1997 MLH1_001056 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1007544; - - - 1 Michael Woods
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