Unique variants in gene MLH1

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

1413 entries on 15 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

InSiGHT Class     

Splicing/transcript expression     

DNA change (genomic) (hg19)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Owner     
?/? 1 1 c.37G>A - r.(?) p.(Glu13Lys) - - 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) - Sigurdis Haraldsdottir
?/? 1 1 c.65G>C - r.(?) p.(Gly22Ala) - - 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) - Sigurdis Haraldsdottir
?/? 1 10 c.802G>C - r.(?) p.(Glu268Gln) - - 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) - Sigurdis Haraldsdottir
?/? 1 10 c.821A>G - r.(?) p.(Lys274Arg) - - 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) - Sigurdis Haraldsdottir
?/? 1 ? c.? Balanced translocation r.(?) p.? - - g.36998760_? - Haraldsdottir et al. Accepted into Nature Communications MLH1_000000 - Balanced translocation. Found in 1 family Germline (inherited) - Sigurdis Haraldsdottir
?/+, +/+ 2 11i_19_ c.(1038+1_1039-1)_(*193_?)del del ex12-19 r.? p.? Class 5 - g.(37061955_37067127)_(37092337_?)del - - MLH1_000912 - - Germline (inherited) - Prof. Dr. med. Peter Propping
+/+, ?/+ 3 12i_19_ c.(1409+1_1410-1)_(*193_?)del del ex13-19, Deletion of Exon 13-19 r.? p.? Class 5 - g.(37067499_37070274)_(37092337_?)del - Mangold et al., 2005, Mangold et al., 2005 MLH1_000504 - - Germline (inherited) - Prof. Dr. med. Peter Propping, Michael Woods
?/+ 2 13i_19_ c.(1558+1_1559-1)_(*193_?)del Deletion of Exon 14-19 r.? p.? Class 5 - g.(37070424_37081676)_(37092337_?)del - Wang et al., 2003, Staaf et al., 2008,Halvarsson et al., 2006 MLH1_001136 - - Germline (inherited) - Michael Woods
?/+, +/+ 7 15i_19_ c.(1731+1_1732-1)_(*193_?)del Deletion of Exon 16-19 (>3.5kb), Deletion of Exon 16-19, 2 more items r.? p.?, p.Glu578_X757del Class 5 - g.(37083823_37089009)_(37092337_?)del - Taylor et al., 2003, Baudhuin et al., 2005, South et al., 2008, Nilbert et al., 2008, 3 more items MLH1_001572 - Variant Allele: Paternal Inferred Germline (inherited) - Michael Woods, MAURIZIO GENUARDI, InSiGHT group
?/+ 1 17i_19_ c.(1989+1_1990-1)_(*193_?)del del Ex18-19, >3.4kb r.? p.? Class 5 - g.(37090101_37090394)_(37092337_?)del - van der Klift et al., 2005 MLH1_000763 - - Germline (inherited) - Juul Wijnen
?/+ 1 18i_19_ c.(2103+1_2104-1)_(*193_?)del Deletion of Exon 19 r.? p.? Class 5 - g.(37090509_37091976)_(37092337_?)del - Soravia et al., 2001 MLH1_001267 - - Germline (inherited) - Michael Woods
?/? 1 18i_19_ c.(2103+1_2104-1)_(*193_?)dup Duplication of Exon 19 r.? p.? Class 3 - g.(37090509_37091976)_(37092337_?)dup - Zhu et al., 2005 MLH1_001268 - - Germline (inherited) - Michael Woods
+/+, ?/+ 2 3i_19_ c.(306+1_307-1)_(*193_?)del del ex04-19, Deletion of Exon 4-19 r.? p.? Class 5 - g.(37042545_37045891)_(37092337_?)del - Boyer et al., 1995 MLH1_001007 - - Germline (inherited), In vitro (cloned) - Prof. Dr. med. Peter Propping, Michael Woods
?/+ 1 10i_19i c.(884+1_885-1)_(*193_?)del Deletion of Exon 11-19 r.? p.? Class 5 - g.(37059091_37061800)_(37092337_?)del - van der Klift et al., 2005 MLH1_000424 - - Germline (inherited) - Juul Wijnen
+/+, ?/+ 12 _1_19_ c.(?_-198)_(*193_?)del c.1-?_2271+?del Whole gene deletion, c.1-?_2271+?del (Del ex01-19), del Ex1-19, >57kb, 3 more items r.(?), r.0? p.?, p.0? Class 5 - g.37034841_37092337del, g.(?_37034841)_(37092337_?)del - Lagerstedt-Robinson et al. 2016, {microatt:1000290, José Luis Soto}, Zidan et al., 2007, 6 more items chr3_000041, MLH1_001571 - Variant Allele: Maternal Inferred, part or all of the MLH1 gene missing, 1 more item Germline (inherited) - Kristina Lagerstedt Robinson, InSiGHT group, Michael Woods, Juul Wijnen, MAURIZIO GENUARDI
?/+ 1 _1_11i c.(?_-198)_(1038+1_1039-1)del Exon 1 to Exon 11 (c.1-?_1038+?del) r.0? p.0? Class 5 - g.(?_37034841)_(37061955_37067127)del - {microatt:1003328, Desiree du Sart} MLH1_001667 - - Germline (inherited) - InSiGHT group
?/+ 3 _1_1i c.(?_-198)_(116+1_117-1)del Deletion of Exon 1 r.0? p.0? Class 5 - g.(?_37034841)_(37035155_37038109)del - Zhu et al., 2005, Barnetson et al., 2006, De Lellis et al., 2006 MLH1_000941 - - Germline (inherited) - Michael Woods
?/? 1 _1_1i c.(?_-198)_(116+1_117-1)dup Duplication of Exon 1 r.0? p.0? Class 3 - g.(?_37034841)_(37035155_37038109)dup - Zhu et al., 2005 MLH1_000942 - - Germline (inherited) - Michael Woods
?/+ 8 _1_13i c.(?_-198)_(1558+1_1559-1)del c.(?_-198)_1558+?del, Deletion of Exon 1-13, del Ex1-13, 1 more item r.0? p.0? Class 5 - g.(?_37034841)_(37070424_37081676)del - {microatt:1000382, Robert HaileTherese Teitsch}, {microatt:1000508, Robert HaileTherese Teitsch}, 6 more items MLH1_000013 - - Germline (inherited) - InSiGHT group, Michael Woods, Juul Wijnen
?/+, +/+ 7 _1_15i c.(?_-198)_(1731+1_1732-1)del Deletion of Exon 1-15, del ex1-15, c.(?_-198)_1731+?del r.0? p.0? Class 5 - g.(?_37034841)_(37083823_37089009)del - Pistorius et al., 2007, Nilbert et al., 2002, Mangold et al., 2005, Lagerstedt Robinson et al., 2007, 2 more items MLH1_001614 - - Germline (inherited) - Michael Woods, Kristina Lagerstedt Robinson, InSiGHT group
?/+ 4 _1_2i c.(?_-198)_(207+1_208-1)del c.(?_-198)_207+?del, Deletion of Exon 1-2 r.0? p.0? Class 5 - g.(?_37034841)_(37038201_37042445)del - {microatt:1002741, Elke Holinski-Feder and Monika Morak}, Zhang et al., 2006,Gylling et al., 2009, 2 more items MLH1_001607 - 2 index patients: male 41 y C. asc. Ca T3No , other female 46 y CC C18.9, no IHC, both Bethesda-pos., 1 more item Germline (inherited), In vitro (cloned) - InSiGHT group, Michael Woods
?/+, +/+ 2 _1_3i c.(?_-198)_(306+1_307-1)del Deletion of Exon 1-3 r.0? p.0? Class 5 - g.(?_37034841)_(37042545_37045891)del - Spaepen et al., 2006, Spaepen et al., 2006 Genuardi et al., (unpublished) MLH1_000946 - - Germline (inherited) - Michael Woods, MAURIZIO GENUARDI
?/+ 1 _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 - g.(?_37034841)_(37045966_37048481)del - {microatt:1000289, José Luis Soto} MLH1_001570 - Variant Allele: Maternal Inferred Germline (inherited) - InSiGHT group
?/+ 5 _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), 2 more items r.0? p.0? Class 5 - g.(?_37034841)_(37050397_37053310)del - {microatt:1002973, Desiree du Sart}, {microatt:1003076, Desiree du Sart}, Taylor et al., 2003, 1 more item MLH1_001724 - MLH1:c.1569G>T; MLH1:c.(?_-198)_545+?del (in cis) Germline (inherited) - InSiGHT group, Michael Woods, Mark Jenkins
+/+, ?/+ 10 _1_10i c.(?_-198)_(884+1_885-1)del Deletion E1-10, ex01_ex10del, Deletion of Exon 1-10 r.0? p.0? Class 5 - g.(?_37034841)_(37059091_37061800)del - Wang et al., 2002, Wang et al., 2003, Grabowski et al., 2005, Mangold et al., 2005, 1 more item MLH1_000949 - - Germline (inherited) - Prof. Dr. med. Peter Propping, Beate Dr. Betz, Michael Woods
+/+ 1 - c.(?_-198)_1731+?del c.1-?_1731+?del Deletion exons 1–15 r.(?) p.? Class 5 - g.37034841_37083822del - Lagerstedt Robinson et al. 2007, Lagerstedt-Robinson et al. 2016 chr3_000040 - - Germline (inherited) - Kristina Lagerstedt Robinson
+/+ 3 - c.(?_-198)_306+?del c.1-?_306+?del Deletion exons 1–3 r.(?) p.? Class 5 - g.37034841_37042544del - Lagerstedt-Robinson et al. 2016 chr3_000039 - - Germline (inherited) - Kristina Lagerstedt Robinson
?/? 2 19 c.*167T>A Authors describe this as A>T at 2438 r.(?) p.(=) Class 3 - g.37092311T>A - Wang et al., 2005, Wang et al., 2006 MLH1_001053 - - Germline (inherited) - Michael Woods
?/- 2 19 c.*2926C>T - r.(?) p.(=) Class 1 - g.37095070C>T - Schafmayer et al., 2007, {dsSNP10849} MLH1_001054 - - Germline (inherited) - Michael Woods
?/-, -?/-, -/- 18 19 c.*35_*37del Authors describe this as c.2268+33_2268+35delTTC., del ttc at 2268+33, *+35delCTT, 2268+33del4, 2 more items r.(?) p.(=) Class 1 - g.37092179_37092181del - Steinke et al., 2008, Tinat et al., 2008, Hutter et al., (unpublished), Viel et al., 1997, 7 more items MLH1_001056 -, 17989 Authors suggest this clincial presentation does not suggest an biallelic inactivation of a MMR gene., 3 more items Germline (inherited) - Michael Woods, Carli Tops, InSiGHT group, Ans van den Ouweland
-?/? 1 19 c.*3A>G - r.(?) p.(=) Class 3 - g.37092147A>G - - MLH1_000814 - - Germline (inherited) - Carli Tops
?/+ 1 _1_19_ c.-73960_*46597del Deletion of Exon 1-19 r.0? p.0? Class 5 - g.36961079_37138741del - Staaf et al., 2008 MLH1_000959 - - Germline (inherited) - Michael Woods
+/. 1 - c.1225 C>T disruptive variant r.(?) p.(Gln409*) - - g.37067314C>T - 1 more item MLH1_000455 - - Germline (inherited) - Stephanie Baert-Desurmont
?/? 1 12 c.1254T>R - r.(?) p.(Asp418Glu) N/A - g.37067343T>R - Chen et al., 2004 MLH1_001093 - Results from site-directed mutagenesis In vitro (cloned) - Michael Woods
?/+ 2 5i_8i c.[453+625_545+921delinsTG;545+1271_677+737delinsCA] Authors describe mutation as the deletion of Exon 6-8 with the partial retention of Intron 6, 1 more item r.? p.Val152Argfs*8 Class 5 - g.[37049179_37051317delinsTG;37051667_37054327delinsCA] - McVety et al., 2005, Li et al., 2006 MLH1_001305 - - Germline (inherited) - Michael Woods
?/- 2 _1 c.-4864C>A - r.(=) p.(=) Class 1 - g.37030175C>A - Schafmayer et al., 2007, {dsSNP9311149} MLH1_000938 - - Germline (inherited) - Michael Woods
?/+ 2 _1_2i c.-381_207+606del del Ex1-2, ~4.1kb, Deletion of Exon 1-2 r.0? p.0? Class 5 - g.37034658_37038806del - van der Klift et al., 2005, van der Klift et al., 2005,Chong et al., 2009 MLH1_000944 - - Germline (inherited) - Juul Wijnen, Michael Woods
?/-?, ?/. 4 _1 c.-269C>G -269C>G r.=, r.(=) p.=, p.(=) Class 2 - g.37034770C>G - Zavodna et al., 2006, Pinto et al. 2017 MLH1_000002 ? - Germline (inherited) - InSiGHT group, John Paul Plazzer
?/. 1 _1 c.-261G>A - r.(=) p.(=) - - g.37034778G>A - Pinto et al. 2017 MLH1_001797 - - Germline (inherited) - John Paul Plazzer
+/+ 1 _1_19_ c.-73960_*46597del c.-73960_*46597del r.0? p.0? Class 5 - g.36961079_37138741del - - MLH1_000959 - - De novo - Ian Frayling
?/. 1 _1 c.-593G>C EPM2AIP1 c.123C>G p.= r.(=) p.(=) - biallelic expression of EPM2AIP1 c.123C>G, MLH1 no informative SNP g.37034446G>C - - MLH1_001803 - - Germline (inherited) ? Elke Holinski-Feder
?/. 1 _1 c.-477T>C EPM2AIP1 c.7A>G p.Met3Val (MLH1 c.-477T>C not in 5`UTR) r.(=) p.(=) - EPM2AIP1 biallelic in c.7A>G p.Met3Val, MLH1 without informative SNPs g.37034562T>C - - MLH1_001802 - - Germline (inherited) - Elke Holinski-Feder
./., ?/. 2 _1 c.-435_-432del - r.(=) p.(=) - 105% and 102% activity relative to wild-type promoter in HCT116 and HEK293 cells, respectively. g.37034604_37034607del - Ward et al. (2013) MLH1_001801 - Testing stopped when variant detected In vitro (cloned), Germline (inherited) - Robyn Ward
./., ?/. 2 _1 c.-413_-411del - r.(=) p.(=) - 77% and 89% activity relative to wild-type promoter in HCT116 and HEK293 cells, respectively. g.37034626_37034628del - Ward et al. (2013) MLH1_001800 - Testing stopped when variant detected In vitro (cloned), Germline (inherited) - Robyn Ward
?/. 1 _1 c.-369A>G EPM2AIP1 c.-102T>C (MLH1 c.-369A>G not in 5`UTR) r.(=) p.(=) - - g.37034670A>G - - MLH1_001799 - - Germline (inherited) - Elke Holinski-Feder
?/. 9 _1 c.-269C>G EPM2AIP1 c.-202G>C (MLH1 c.-269C>G not in 5`UTR) r.(=) p.(=) - EPM2AIP1 c.-202G>C biallelic, MLH1 without informative SNPs, 1 more item g.37034770C>G - - MLH1_000002 - germline methylation on c.-269G variant allele Germline (inherited) ? Elke Holinski-Feder
?/. 1 _1 c.-230G>C MLH1 c.-230G>C or EPM2AIP1 c.-241C>G; not in 5`UTR of MLH1 or EPM2AIP1 r.(=) p.(=) - - g.37034809G>C - - MLH1_001796 - - Germline (inherited) ? Elke Holinski-Feder
+/+ 1 _1_1i c.(?_-198)_(116+1_117-1)del c.(?_-198)_116+?del r.0? p.0? Class 5 - g.(?_37034841)_(37035155_37038109)del - InSiGHT, Rossi et al. 2017 MLH1_000941 - 1 more item Germline (inherited) - MEV DOMINGUEZ VALENTIN
+/+ 1 _1_3i c.(?_-198)_(306+1_307-1)del c.(?-198)_306+?del/Del exon 1-3 r.0? p.0? Class 5 - g.(?_37034841)_(37042545_37045891)del - - MLH1_000946 - - Germline (inherited) - Thomas v. O. Hansen
+/+ 1 - c.(?_-198)_(306+1_307-1)del deletions of exons 1–3 r.spl? p.? Class 5 - g.(?_37034841)_(37042545_37045891)del - - MLH1_000946 - - Germline (inherited) - John Paul Plazzer
?/. 2 1 c.-118G>A c.-118G>A r.(?) p.(=) Not classified - g.37034921G>A - - MLH1_001794 - - Germline (inherited) - Thomas v. O. Hansen
+?/-? 1 1 c.-107C>G - r.(?) p.(=) Class 2 - g.37034932C>G - Zhong et al., 2007 MLH1_000937 - Authors descibe this variant as reducing transciption activity by 51%. Germline (inherited) - Michael Woods
?/. 2 1 c.-101C>G c.-101C>G r.(?) p.(=) Not classified - g.37034938C>G - - MLH1_001793 - - Germline (inherited) - Thomas v. O. Hansen
?/-, -/. 55 1 c.-93G>A G -> A at 1-93, Authors describe this as A>G., c.1-93G>A r.(?) p.(=) Class 1 - g.37034946G>A - Koessler et al., 2008, Campbell et al., 2008, Ryk et al., 2008, Allan et al., 2008, Mann et al., 2008, 34 more items MLH1_001761 -, 0.5 Authors describe this variant as having no effect on CRC susceptibility., 14 more items Germline (inherited), Somatic, Unknown - Michael Woods, InSiGHT group, Wan Khairunnisa Wan Juhari, John Paul Plazzer
?/? 1 1 c.-64G>T - r.(?) p.(=) Class 3 - g.37034975G>T - - MLH1_001496 - - Germline (inherited) - Peng Nan
+?/. 1 1 c.-63_-58delinsCACGAGGCACGAGCACGA - r.(=) p.(=) - monoallelic expression in cDNA only wildtype, not variant allele in both individuals with variant g.37034976_37034981delinsCACGAGGCACGAGCACGA - - MLH1_001804 - 1 more item Germline (inherited) yes Elke Holinski-Feder
?/? 1 1 c.-53G>T - r.(?) p.(=) Class 3 - g.37034986G>T - Dominguez et al., unpublished MLH1_001451 - - Germline (inherited) - MEV DOMINGUEZ VALENTIN
./., ?/., +/?, ?/?, +?/. 8 1 c.-42C>T -42C->T, c.-42C>T r.(?), r.?, r.(=) p.(=) Class 3 55% and 84% activity relative to wild-type promoter in HCT116 and HEK293 cells, respectively., 1 more item g.37034997C>T - Ward et al. (2013), Green et al., 2003, Muller-Koch et al., 2001,Mangold et al., 2005, 3 more items MLH1_001591 - Testing stopped when variant detected, Functional studies indicated loss of efficiency, 1 more item In vitro (cloned), Germline (inherited) ? Robyn Ward, InSiGHT group, Michael Woods, Elke Holinski-Feder
?/. 1 1 c.-33T>G - r.(?) p.(=) - - g.37035006T>G - - MLH1_001798 - - Germline (inherited) ? Elke Holinski-Feder
?/?, -?/. 13 1 c.-28A>G c.-28A>G r.(?) p.(=), p.? Class 3 MLH1 c.-28A>G biallelic in cDNA, 1 more item g.37035011A>G - Muller-Koch et al., 2001, Lee et al., 2005, Fredriksson et al., 2006, Yap et al., 2009, 2 more items MLH1_000936 - MLH1:c.-7C>T and MLH1 c.-28A>G, MLH1 c.[-28A>G;-7C>T] in 5`UTR Germline (inherited) no, ? Michael Woods, InSiGHT group, Luke Hesson, Thomas v. O. Hansen, Elke Holinski-Feder
?/? 2 1 c.-28A>T - r.(?) p.(=) Class 3 - g.37035011A>T - Mangold et al., 2005, Isidro et al., 2003 MLH1_000945 - - Germline (inherited) - Prof. Dr. med. Peter Propping, Michael Woods
+/+, +?/+ 4 1 c.-27C>A - r.(?), r.-27c>a p,?, p.0 Class 5: Pathogenic for haplotype - g.37035012C>A - Hitchins et al., 2011 MLH1_001521 Private 3 more items Germline (inherited) - Robyn Ward, Megan Hitchins
./., ?/. 3 1 c.-11C>T - r.(?) p.(=) - 49% and 62% activity relative to wild-type promoter in HCT116 and HEK293 cells, respectively. g.37035028C>T - Ward et al. (2013) MLH1_001795 - Testing stopped when variant detected, 1 more item In vitro (cloned), Germline (inherited) - Robyn Ward
?/?, -?/. 10 1 c.-7C>T c.-7C>T r.(?) p.?, p.(=) Class 3 MLH1 c.[-28A>G;-7C>T] biallelic in cDNA, EPM2AIP1 3`UTR c.1824*2570G>T biallelic g.37035032C>T - Lagerstedt-Robinson et al. 2016, Fredriksson et al., 2006, Lagerstedt-Robinson et al 2016, 1 more item MLH1_000939 - MLH1:c.-7C>T and MLH1 c.-28A>G, MLH1 c.[-28A>G;-7C>T], 1 more item Germline (inherited), Unknown no, ? Kristina Lagerstedt Robinson, Michael Woods, InSiGHT group, Luke Hesson, Thomas v. O. Hansen, Elke Holinski-Feder
?/. 5 1 c.27= c.27G (wild-type) r.(=) p.(=) - - g.37035065G= - Ward et al. (2013) MLH1_001867 - Testing stopped when variant detected Germline (inherited) - Robyn Ward
+?/. 1 1 c.1A>C - r.? p.? Meets InSiGHT Class 5 criteria - g.37035039A>C - - MLH1_001955 - 1 more item Germline (inherited) ? Samantha Butler
+/+, +/? 2 1 c.1A>G - r.?, r.(?) p.? Class 5 - g.37035039A>G - Scott et al., 2001 MLH1_001457 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - John Paul Plazzer, Rodney Scott
+/? 1 _1_19_ c.(?_-198)_(*193_?)del c.1-?_2271+?del r.0? p.0? - - g.(?_37034841)_(37092337_?)del - - MLH1_001571 - ICCON data, Westmead, NSW Germline (inherited) - John Paul Plazzer
+/+, ?/+ 5 1 c.2T>A T -> A at 2 r.(?) p.0? Class 5 - g.37035040T>A - Wehner et al., 1997, Lamberti et al., 1999, Mangold et al., 2005, Mangold et al., 2005 MLH1_000031 - - Germline (inherited) - Prof. Dr. med. Peter Propping, InSiGHT group, Michael Woods
?/+ 1 1 c.2T>C - r.(?) p.0? Class 5 - g.37035040T>C - - MLH1_001488 - - Germline (inherited) - Ans van den Ouweland
-/+, ?/+ 6 1 c.2T>G M1R, Authors describe this as p.Met1Arg r.(?) p.0? Class 5 - g.37035040T>G - Auclair et al., 2006, Wang et al., 1997, Shimodaira et al., 1998, Wang et al., 1999, Kim et al., 2004 MLH1_000032 - {GR:394} In vitro (cloned), Germline (inherited) - Rolf Sijmons, Michael Woods
?/+, +/+ 5 1 c.3G>A Submitter described this as p.Met1Ile., MLH1*3G>A r.(?) p.? Class 5 - g.37035041G>A - Bapat, unpublished, Guillem et al., 2007, Barnetson et al., 2006 MLH1_000960 - This was previously stored in the incorrect gene (MSH6 instead of MLH1) Germline (inherited), Unknown - Bharati Bapat, Elke Holinski-Feder, Helen Lindsay, Michael Woods
+/+ 1 1 c.5C>A - r.(?) p.(Ser2*) Class 5 - g.37035043C>A - Piepoli et al., (unpublished) MLH1_000853 - - Germline (inherited) - InSiGHT group
?/+, +/+, +/? 4 1 c.9del c.9delC r.(?) p.(Phe3Leufs*14), p.Phe3Leufs*14 Class 5 - g.37035047del - Bisgaard et al., 2002, Nilbert et al., 2008, 1 more item MLH1_000966 - ICCON data, Royal Prince Alfred/Liverpool, NSW Germline (inherited) - Michael Woods, Thomas v. O. Hansen, John Paul Plazzer
?/+ 1 1 c.15_28del - r.(?) p.(Gly6Alafs*20) Class 5 - g.37035053_37035066del - Overbeek et al., 2007 MLH1_000956 - - Germline (inherited) - Michael Woods
+/+, ?/+ 10 1 c.18_34del 17-bp del at ? r.(?) p.(Val7Argfs*18) Class 5 - g.37035056_37035072del - Wijnen et al., 1997,Hendriks et al., 2003,de Jong et al., 2004, Wijnen et al., 1997, 3 more items MLH1_000029 - - Germline (inherited) - Carli Tops, Juul Wijnen, InSiGHT group, Beate Dr. Betz, Michael Woods
?/. 1 - c.19G>T Missense r.(?) p.(Val7Phe) - - g.37035057G>T - Lagerstedt-Robinson et al. 2016 chr3_000042 - - Germline (inherited) - Kristina Lagerstedt Robinson
?/+ 1 1 c.19_35del Authors describe this as Gly6fsX29 r.(?) p.(Val7Argfs*18) Class 5 - g.37035057_37035073del - Niessen et al., 2006 MLH1_000030 - - Germline (inherited) - Michael Woods
+/+ 1 1 c.22dup Submitter described this as c.22insA, p.Ile8fsX. r.(?) p.(Ile8Asnfs*23) Class 5 - g.37035060dup - - MLH1_001410 - - Germline (inherited) - Elke Holinski-Feder
?/? 1 1 c.25C>T - r.25c>u p.Arg9Trp Class 3 - g.37035063C>T - Borras et al., 2012 MLH1_001506 - - Germline (inherited) - Gabriel Capellá
?/. 2 1 c.27G>A - r.(=) p.(=) - - g.37035065G>A - Ward et al. (2013) MLH1_001868 - Testing stopped when variant detected Germline (inherited) - John Paul Plazzer, Robyn Ward
?/+ 2 1 c.31del - r.(?) p.(Leu11Trpfs*6) Class 5 - g.37035069del - Kadiyska et al., 2006, Kadiyska et al., 2007 MLH1_000957 - - Germline (inherited) - Michael Woods
?/. 1 - c.34G>T Missense r.(?) p.(Asp12Tyr) - - g.37035072G>T - Lagerstedt-Robinson et al. 2016 chr3_000048 - - Germline (inherited) - Kristina Lagerstedt Robinson
?/. 1 1 c.36_38del c.36_38del r.(?) p.Asp12del - - g.37035074_37035076del - - MLH1_001877 - - De novo - Ian Frayling
+/+, ?/+ 6 1 c.37del del G at 37 r.(?) p.(Glu13Argfs*4) Class 5 - g.37035075del - Kurzawski et al., 2002, Jakubowska et al., 2001, Kurzawski et al., 2002, Kurzawski et al., 2001, 1 more item MLH1_000034 - - Germline (inherited) - InSiGHT group, Michael Woods
+/+ 1 1 c.37G>T g->t at n37 r.(?) p.(Glu13*) Class 5 - g.37035075G>T - M Nilbert (unpublished) 2003 MLH1_000852 - - Germline (inherited) - InSiGHT group
?/+ 1 1 c.38_39insCCCA - r.(?) p.(Glu13Aspfs*19) Class 5 - g.37035076_37035077insCCCA - Rey et al., 2004 MLH1_000958 - - Germline (inherited) - Michael Woods
?/+ 1 1 c.39_40dup - r.(?) p.(Thr14Argfs*4) Class 5 - g.37035077_37035078dup - - MLH1_000835 - - Germline (inherited) - Juul Wijnen
-?/? 8 1 c.42A>C - r.(?) p.Thr14= - - g.37035080A>C - - MLH1_001881 - - Germline (inherited) - Jack Ji
+/+, ?/+ 3 1 c.44dup - r.(?) p.(Val16Glyfs*15) Class 5 - g.37035082dup - Mangold et al., 2005, Mangold et al., 2005 MLH1_000036 - - Germline (inherited) - Prof. Dr. med. Peter Propping, Michael Woods
?/? 2 1 c.46G>A - r.(?) p.Val16Met - - g.37035084G>A - - MLH1_001885 - - Germline (inherited) - Jack Ji
?/., ?/? 7 1 c.52C>T c.52C>T r.(?) p.Arg18Cys Not classified - g.37035090C>T - - MLH1_001887 - - Germline (inherited) - Thomas v. O. Hansen, Jack Ji
?/+ 1 1 c.52del - r.(?) p.(Arg18Alafs*18) Class 5 - g.37035090del - Kim et al., 2001 MLH1_000961 - - Germline (inherited) - Michael Woods
?/+, +/+, -/+ 8 1 c.55A>T I19F r.(?) p.(Ile19Phe) Class 5 - g.37035093A>T - Kurzawski et al., 2002, Andrew et al., 2002, Chao et al., 2008 MLH1_000038 - {GR:478} Germline (inherited), Unknown - Michael Woods, Rolf Sijmons, Amie Blanco
?/? 1 1 c.58G>A - r.(?) p.Ala20Thr - - g.37035096G>A - - MLH1_001893 - - Germline (inherited) - Jack Ji
+/+, ?/+ 3 1 c.61del del G at 63 r.(?) p.(Ala21Argfs*15) Class 5 - g.37035099del - Moslein et al., 1996, Kim et al., 2001 MLH1_000962 - - Germline (inherited) - InSiGHT group, Michael Woods
?/+ 1 1 c.62C>A - r.(?) p.(Ala21Glu) Class 5 - g.37035100C>A - Hardt et al., 2011 MLH1_000930 - - Germline (inherited) - Beate Dr. Betz
+?/+, ?/+, +/+, -/+ 10 1 c.62C>T Missense, A21V r.(?) p.(Ala21Val) Class 5 - g.37035100C>T - Cederquist et al. 2004, Lagerstedt-Robinson et al. 2016, Lagerstedt-Robinson et al. 2016, 3 more items MLH1_000040 - {GR:479} Germline (inherited), Unknown - Kristina Lagerstedt Robinson, Michael Woods, Rolf Sijmons
?/?, -/?, +/?, -?/? 13 1 c.65G>C G22A r.(?) p.(Gly22Ala), p.Gly22Ala Class 3 - g.37035103G>C - Kets et al., 2006 Overbeek et al., 2007, Barnetson et al., 2008, Fearnhead et al., 2004, 3 more items MLH1_001732 2/1051 controls {GR:330}, MLH1:c.65G>C + MSH6:c.814G>T Germline (inherited), Unknown - Michael Woods, Ans van den Ouweland, Rolf Sijmons, Jack Ji, InSiGHT group
+/+, ?/+ 4 1 c.67del del G at 67, Authors describe this as c.63delG p.Ala21fs. r.(?) p.(Glu23Lysfs*13) Class 5 - g.37035105del - Myriad et al.,, Kurzawski et al., 2006, Nilbert et al., 2008, Mao et al., 2008 MLH1_000042 - In vitro functional MMR analysis revealed a deficiency in MMR function. Germline (inherited) - InSiGHT group, Michael Woods
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