Unique variants in the MLH1 gene


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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

1554 entries on 16 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 12 c.1254T>R r.(?) p.(Asp418Glu) - NA g.37067343T>R g.37025852T>R - - MLH1_001093 Results from site-directed mutagenesis PubMed: Chen 2004 - - In vitro (cloned) - - - - - Michael Woods
?/. 1 ? c.? r.(?) p.? - VUS g.36998760_? - Balanced translocation - MLH1_000000 Balanced translocation. Found in 1 family PubMed: Haraldsdottir 2018 - - Germline - - - - - Sigurdis Haraldsdottir
?/., +/+ 3 5i_8i c.[453+625_545+921delinsTG;545+1271_677+737delinsCA] r.? p.Val152Argfs*8 InSiGHT VUS, pathogenic g.[37049179_37051317delinsTG;37051667_37054327delinsCA] - Authors describe mutation as the deletion of Exon 6-8 with the partial retention of Intron 6, 1 more item - MLH1_001305 Insight class: 5 PubMed: McVety 2005, PubMed: Li 2006, InSiGHT - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
+/+, ?/., +/. 3 _1_19_ c.-73960_*46597del r.0? p.0? InSiGHT pathogenic, VUS g.36961079_37138741del g.36919588_37097250del Deletion of Exon 1-19, -73960_*46597del - MLH1_000959 Insight class: 5 InSiGHT, PubMed: Staaf 2008 - - SUMMARY record, Germline, De novo - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Ian Frayling
+?/. 1 1-19 c.(?_-71039)_(*22856_?)dup r.(?) p.(?) ACMG VUS g.(?_36964000)_(37115000_?)dup - - - MLH1_002148 NG_007109.2(NM_000249.3):c.(?_-71039)_(*22856_?)dup / NC_000003.11:g.(?_36964000)_(37115000_?)dup - - - Germline ? - - - - Andreas Laner
-/-, ?/. 3 _1 c.-4864C>A r.(=) p.(=) InSiGHT benign, VUS g.37030175C>A g.36988684C>A - - MLH1_000938 Insight class: 1 InSiGHT, PubMed: Schafmayer 2007 - rs9311149 SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/. 1 _1 c.-593G>C r.(=) p.(=) - VUS g.37034446G>C g.36992955G>C EPM2AIP1 123C>G p.= - MLH1_001803 biallelic expression of EPM2AIP1 c.123C>G, MLH1 no informative SNP - - - Germline ? - - - - Elke Holinski-Feder
?/. 1 _1 c.-477T>C r.(=) p.(=) - VUS g.37034562T>C g.36993071T>C EPM2AIP1 7A>G p.Met3Val (MLH1 -477T>C not in 5`UTR) - MLH1_001802 EPM2AIP1 biallelic in c.7A>G p.Met3Val, MLH1 without informative SNPs - - - Germline - - - - - Elke Holinski-Feder
?/. 2 _1 c.-435_-432del r.(=) p.(=) - NA, VUS g.37034604_37034607del g.36993113_36993116del - - MLH1_001801 105% and 102% activity relative to wild-type promoter in HCT116 and HEK293 cells, respectively., 1 more item PubMed: Ward (2013) - - In vitro (cloned), Germline - - - - - Robyn Ward
?/. 2 _1 c.-413_-411del r.(=) p.(=) - NA, VUS g.37034626_37034628del g.36993135_36993137del - - MLH1_001800 77% and 89% activity relative to wild-type promoter in HCT116 and HEK293 cells, respectively., 1 more item PubMed: Ward (2013) - - In vitro (cloned), Germline - - - - - Robyn Ward
+/+, ?/. 3 _1_2i c.-381_207+606del r.0? p.0? InSiGHT pathogenic, VUS g.37034658_37038806del g.36993167_36997315del del Ex1-2, ~4.1kb, Deletion of Exon 1-2 - MLH1_000944 Insight class: 5 InSiGHT, PubMed: van der Klift 2005, PubMed: van der Klift 2005,PubMed: Chong 2009 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Juul Wijnen, Michael Woods
?/. 1 _1 c.-369A>G r.(=) p.(=) - VUS g.37034670A>G g.36993179A>G EPM2AIP1 -102T>C (MLH1 -369A>G not in 5`UTR) - MLH1_001799 - - - - Germline - - - - - Elke Holinski-Feder
?/., -?/., -?/-? 14 _1 c.-269C>G r.=, r.(=) p.=, p.(=) InSiGHT VUS, likely benign g.37034770C>G g.36993279C>G -269C>G, EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR) - MLH1_000002 EPM2AIP1 c.-202G>C biallelic, MLH1 without informative SNPs, Insight class: 2, 2 more items PubMed: Zavodna 2006, PubMed: Pinto 2017, InSiGHT - - Germline, SUMMARY record ? ? - - - INSiGHT group, InSiGHT - John-Paul Plazzer, Elke Holinski-Feder
?/. 1 _1 c.-261G>A r.(=) p.(=) - VUS g.37034778G>A g.36993287G>A - - MLH1_001797 - PubMed: Pinto 2017 - - Germline - - - - - InSiGHT - John-Paul Plazzer
?/. 1 _1 c.-230G>C r.(=) p.(=) - VUS g.37034809G>C g.36993318G>C MLH1 -230G>C or EPM2AIP1 -241C>G; not in 5`UTR of MLH1 or EPM2AIP1 - MLH1_001796 - - - - Germline ? - - - - Elke Holinski-Feder
-?/. 1 - c.-221C>T r.(?) p.(=) - likely benign g.37034818C>T g.36993327C>T - - EPM2AIP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-213G>A r.(?) p.(=) - likely benign g.37034826G>A g.36993335G>A - - EPM2AIP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, ?/., +/. 5 _1_1i c.(?_-198)_(116+1_117-1)del r.0? p.0? InSiGHT pathogenic, VUS g.(?_37034841)_(37035155_37038109)del - Deletion of Exon 1, (?_-198)_116+?del - MLH1_000941 Insight class: 5, 1 more item InSiGHT, PubMed: Zhu 2005, PubMed: Barnetson 2006, PubMed: De Lellis 2006, InSiGHT, PubMed: Rossi 2017 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Mev Dominguez Valentin
?/?, ?/. 2 _1_1i c.(?_-198)_(116+1_117-1)dup r.0? p.0? InSiGHT VUS g.(?_37034841)_(37035155_37038109)dup - Duplication of Exon 1 - MLH1_000942 Insight class: 3 InSiGHT, PubMed: Zhu 2005 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/+, ?/. 5 _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? InSiGHT pathogenic, NA, VUS g.(?_37034841)_(37038201_37042445)del - Deletion of Exon 1-2, (?_-198)_207+?del - MLH1_001607 Insight class: 5, Identified in DU145 cell line., 1 more item InSiGHT, PubMed: Bertholon 2006, PubMed: Zhang 2006,PubMed: Gylling 2009, PubMed: Baudhuin 2005, 1 more item - - SUMMARY record, In vitro (cloned), Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group
+/. 3 - c.(?_-198)_306+?del r.(?) p.? - pathogenic g.37034841_37042544del - 1-?_306+?del Deletion exons 1–3 - MLH1_002063 1 more item PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - Kristina Lagerstedt Robinson
+/+, +/., ?/. 6 _1_3i, 1-3 c.(?_-198)_(306+1_307-1)del r.0?, r.spl?, r.? p.0?, p.? InSiGHT pathogenic, VUS g.(?_37034841)_(37042545_37045891)del - (?-198)_306+?del/Del exon 1-3, Deletion of Exon 1-3, deletions of exons 1–3, c.1_306del - MLH1_000946 Insight class: 5 InSiGHT, PubMed: Spaepen 2006, PubMed: Spaepen 2006 Genuardi (unpublished) - - SUMMARY record, Germline, Germline/De novo (untested) - - - - - InSiGHT - John-Paul Plazzer, Thomas Hansen, Michael Woods, Maurizio Genuardi, Grigorij Yanus
+/+, ?/. 2 _1_4i c.(?_-198)_(380+1_381-1)del r.0? p.0? InSiGHT pathogenic, VUS g.(?_37034841)_(37045966_37048481)del - 1-?_388+?del (Del ex01-04 (80 Kb del)) - MLH1_001570 Insight class: 5, Variant Allele: Maternal Inferred InSiGHT, José Luis Soto - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group
+/+, ?/. 6 _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? InSiGHT pathogenic, VUS g.(?_37034841)_(37050397_37053310)del - Deletion of Exon 1-6, MLH1 exon 1-6 del phase unknown, 1 more item - MLH1_001724 Insight class: 5, MLH1:c.1569G>T; MLH1:c.(?_-198)_545+?del (in cis) InSiGHT, PubMed: Taylor 2003, Desiree du Sart, Desiree du Sart, Mark Jenkins - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Mark Jenkins, INSiGHT group
+/+, +/., ?/. 11 _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? InSiGHT pathogenic, VUS g.(?_37034841)_(37059091_37061800)del - Deletion E1-10, ex01_ex10del, Deletion of Exon 1-10 - MLH1_000949 Insight class: 5 InSiGHT, PubMed: Wang 2002, PubMed: Wang 2003, PubMed: Grabowski 2005, PubMed: Mangold 2005, 1 more item - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Peter Propping, Prof. Dr. med., Beate Dr. Betz, Michael Woods
+/+, ?/. 2 _1_11i c.(?_-198)_(1038+1_1039-1)del r.0? p.0? InSiGHT pathogenic, VUS g.(?_37034841)_(37061955_37067127)del - Exon 1 to Exon 11 (1-?_1038+?del) - MLH1_001667 Insight class: 5 InSiGHT, Desiree du Sart - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group
+/+, ?/. 9 _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? InSiGHT pathogenic, VUS g.(?_37034841)_(37070424_37081676)del - Deletion of Exon 1-13, del Ex1-13, (?_-198)_1558+?del, 1 more item - MLH1_000013 Insight class: 5 InSiGHT, PubMed: Wagner 2003, PubMed: van der Klift 2005, PubMed: Baudhuin 2005, PubMed: Vaughn 2008, 4 more items - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Juul Wijnen, INSiGHT group
+/. 1 - c.(?_-198)_1731+?del r.(?) p.? - pathogenic g.37034841_37083822del - 1-?_1731+?del Deletion exons 1–15 - MLH1_002064 1 more item PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - Kristina Lagerstedt Robinson
+/+, ?/., +/. 8 _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? InSiGHT pathogenic, VUS g.(?_37034841)_(37083823_37089009)del - Deletion of Exon 1-15, del ex1-15, (?_-198)_1731+?del - MLH1_001614 Insight class: 5 InSiGHT, PubMed: Pistorius 2007, PubMed: Nilbert 2002, PubMed: Mangold 2005, PubMed: Staaf 2008, 2 more items - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Kristina Lagerstedt Robinson, INSiGHT group
+/+, +/., ?/. 14 _1_19_ c.(?_-198)_(*193_?)del r.0?, r.(?) p.0?, p.? InSiGHT pathogenic, VUS g.(?_37034841)_(37092337_?)del, g.37034841_37092337del - 1-?_2271+?del, del Ex1-19, >57kb, Deletion of MLH1, Deletion of Exon 1-19, 3 more items - MLH1_001571 Insight class: 5, ICCON data, Westmead, NSW, part or all of the MLH1 gene missing, 3 more items InSiGHT, PubMed: Zidan 2007, PubMed: van der Klift 2005, PubMed: Salahshor 2001, PubMed: Gille 2002, 5 more items - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Juul Wijnen, Maurizio Genuardi, INSiGHT group, Kristina Lagerstedt Robinson
?/. 2 1 c.-118G>A r.(?) p.(=) - VUS g.37034921G>A g.36993430G>A -118G>A - MLH1_001794 - - - - Germline - - - - - Thomas Hansen
+?/., -?/-? 2 1 c.-107C>G r.(?) p.(=) InSiGHT likely pathogenic, likely benign g.37034932C>G g.36993441C>G - - MLH1_000937 Authors descibe this variant as reducing transciption activity by 51%., Insight class: 2 PubMed: Zhong 2007, InSiGHT - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
?/. 2 1 c.-101C>G r.(?) p.(=) - VUS g.37034938C>G g.36993447C>G -101C>G - MLH1_001793 - - - - Germline - - - - - Thomas Hansen
-/-, ?/., -/. 75 1 c.-93G>A r.(?) p.(=) InSiGHT benign, VUS g.37034946G>A g.36993455G>A G -> A at 1-93, A>G., 1-93G>A, MLH1(NM_000249.3):c.-93G>A - MLH1_001761 Insight class: 1, Authors describe this variant as having no effect on CRC susceptibility., 15 more items InSiGHT, PubMed: Koessler 2008, PubMed: Campbell 2008, PubMed: Ryk 2008, PubMed: Allan 2008, 35 more items - rs1800734 SUMMARY record, Germline, Somatic, Unknown, CLASSIFICATION record - -, 0.5 - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Carlos Vaccaro, Wan Khairunnisa Wan Juhari, VKGL-NL_Utrecht, Angela Solano & F Cardoso, VKGL-NL_Nijmegen
?/?, ?/. 2 1 c.-64G>T r.(?) p.(=) InSiGHT VUS g.37034975G>T g.36993484G>T - - MLH1_001496 Insight class: 3 InSiGHT - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Peng Nan
+?/. 1 1 c.-63_-58delinsCACGAGGCACGAGCACGA r.(=) p.(=) - likely pathogenic g.37034976_37034981delinsCACGAGGCACGAGCACGA g.36993485_36993490delinsCACGAGGCACGAGCACGA - - MLH1_001804 1 more item - - - Germline - - - - - Elke Holinski-Feder
?/?, ?/. 2 1 c.-53G>T r.(?) p.(=) InSiGHT VUS g.37034986G>T g.36993495G>T - - MLH1_001451 Insight class: 3 InSiGHT, Dominguez unpublished - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Mev Dominguez Valentin
?/?, +/., ?/. 9 1 c.-42C>T r.(?), r.(=) p.(=) InSiGHT VUS, pathogenic, NA g.37034997C>T g.36993506C>T -42C->T, -42C>T - MLH1_001591 Insight class: 3, Functional studies indicated loss of efficiency, 3 more items InSiGHT, PubMed: Green 2003, PubMed: Muller-Koch 2001,PubMed: Mangold 2005, PubMed: Hubner 2007, 3 more items - - SUMMARY record, Germline, In vitro (cloned) ? - - - - InSiGHT - John-Paul Plazzer, INSiGHT group, Michael Woods, Robyn Ward, Elke Holinski-Feder
-?/. 1 - c.-41G>A r.(?) p.(=) - likely benign g.37034998G>A g.36993507G>A MLH1(NM_000249.3):c.-41G>A - MLH1_001996 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 1 c.-33T>G r.(?) p.(=) - VUS g.37035006T>G g.36993515T>G - - MLH1_001798 - - - - Germline ? - - - - Elke Holinski-Feder
?/., -?/., ?/? 15 1 c.-28A>G r.(?) p.(=) InSiGHT VUS, likely benign g.37035011A>G g.36993520A>G MLH1(NM_000249.3):c.-28A>G, -28A>G, MLH1 c.-28A>G biallelic in cDNA, 1 more item - MLH1_000936 MLH1:c.-7C>T and MLH1 c.-28A>G, VKGL data sharing initiative Nederland, Insight class: 3, 2 more items PubMed: Muller-Koch 2001, PubMed: Lee 2005, PubMed: Fredriksson 2006, PubMed: Yap 2009, InSiGHT, 2 more items - - Germline, CLASSIFICATION record, SUMMARY record no, ? - - - - Michael Woods, INSiGHT group, Luke Hesson, VKGL-NL_NKI, Thomas Hansen, Elke Holinski-Feder, InSiGHT - John-Paul Plazzer
?/., ?/? 3 1 c.-28A>T r.(?) p.(=) InSiGHT VUS g.37035011A>T g.36993520A>T - - MLH1_000945 Insight class: 3 PubMed: Mangold 2005, PubMed: Isidro 2003, InSiGHT - - Germline, SUMMARY record - - - - - Peter Propping, Prof. Dr. med., Michael Woods, InSiGHT - John-Paul Plazzer
+/., +?/., +/+ 6 1 c.-27C>A r.-27c>a, r.(?) p.0, p,?, p.(=) - pathogenic, likely pathogenic g.37035012C>A g.36993521C>A - - MLH1_001521 VKGL data sharing initiative Nederland, 4 more items PubMed: Hitchins 2011, InSiGHT - - Germline, CLASSIFICATION record, SUMMARY record - Private - - - Megan Hitchins, Robyn Ward, VKGL-NL_Nijmegen, InSiGHT - John-Paul Plazzer
?/. 3 1 c.-11C>T r.(?) p.(=) - NA, VUS g.37035028C>T g.36993537C>T - - MLH1_001795 Testing stopped when variant detected, 1 more item PubMed: Ward (2013) - - In vitro (cloned), Germline - - - - - Robyn Ward
?/?, ?/., -?/. 11 1 c.-7C>T r.(?) p.(=) InSiGHT VUS, likely benign g.37035032C>T g.36993541C>T -7C>T, MLH1 c.[-28A>G;-7C>T] - MLH1_000939 Insight class: 3, MLH1:c.-7C>T and MLH1 c.-28A>G, MLH1 c.[-28A>G;-7C>T] in 5`UTR, 1 more item InSiGHT, PubMed: Lagerstedt-Robinson et al 2016, PubMed: Fredriksson 2006, 2 more items - - SUMMARY record, Unknown, Germline no, ? - - - - InSiGHT - John-Paul Plazzer, Kristina Lagerstedt Robinson, Michael Woods, INSiGHT group, Luke Hesson, Thomas Hansen, Elke Holinski-Feder
+?/. 1 1 c.1A>C r.(?) p.(Met1?) - likely pathogenic g.37035039A>C g.36993548A>C - - MLH1_002058 1 more item - - - Germline ? - - - - Samantha Butler
+/., +/+ 3 1 c.1A>G r.(?) p.(Met1?) InSiGHT pathogenic g.37035039A>G g.36993548A>G - - MLH1_001457 ICCON data, Prince of Wales Hospital, NSW, Insight class: 5 InSiGHT, PubMed: Scott 2001 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Rodney Scott
+/+, +/., ?/. 6 1 c.2T>A r.(?) p.0? InSiGHT pathogenic, VUS g.37035040T>A g.36993549T>A T -> A at 2 - MLH1_000031 Insight class: 5 InSiGHT, PubMed: Wehner 1997, PubMed: Lamberti 1999, PubMed: Mangold 2005, PubMed: Mangold 2005 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Peter Propping, Prof. Dr. med., INSiGHT group, Michael Woods
?/., +/+, +/. 4 1 c.2T>C r.(?) p.(Met1?), p.0? InSiGHT VUS, pathogenic g.37035040T>C g.36993549T>C MLH1(NM_000249.3):c.2T>C (p.M1?) - MLH1_001488 VKGL data sharing initiative Nederland, Insight class: 5 InSiGHT - - CLASSIFICATION record, SUMMARY record, Germline - - - - - VKGL-NL_Rotterdam, InSiGHT - John-Paul Plazzer, Ans M.W. van den Ouweland, VKGL-NL_AMC
+/+, -/., ?/., +?/. 8 1 c.2T>G r.(?) p.0?, p.(Met1?) InSiGHT pathogenic, NA, VUS, likely pathogenic g.37035040T>G g.36993549T>G M1R, p.Met1Arg - MLH1_000032 Insight class: 5, {GR:394}, VKGL data sharing initiative Nederland InSiGHT, PubMed: Auclair 2006, PubMed: Shimodaira 1998, PubMed: Wang 1997, PubMed: Wang 1999, 1 more item - - SUMMARY record, In vitro (cloned), Germline, CLASSIFICATION record - - - - - InSiGHT - John-Paul Plazzer, Rolf Sijmons, Michael Woods, VKGL-NL_Nijmegen
?/., +/., +/+ 6 1 c.3G>A r.(?) p.(Met1?) InSiGHT VUS, pathogenic g.37035041G>A g.36993550G>A MLH1*3G>A, Submitter described this as p.Met1Ile. - MLH1_000960 This was previously stored in the incorrect gene (MSH6 instead of MLH1), Insight class: 5 PubMed: Guillem 2007, PubMed: Barnetson 2006, Bapat, unpublished, InSiGHT - - Unknown, Germline, SUMMARY record - - - - - Michael Woods, Bharati Bapat, Elke Holinski-Feder, Helen Lindsay, InSiGHT - John-Paul Plazzer
+/+, +/. 2 1 c.5C>A r.(?) p.(Ser2*) InSiGHT pathogenic g.37035043C>A g.36993552C>A - - MLH1_000853 Insight class: 5 InSiGHT, Piepoli (unpublished) - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group
+/+, +/., ?/. 5 1 c.9del r.(?) p.Phe3Leufs*14, p.(Phe3Leufs*14) InSiGHT pathogenic, VUS g.37035047del g.36993556del 9delC - MLH1_000966 Insight class: 5, ICCON data, Royal Prince Alfred/Liverpool, NSW InSiGHT, PubMed: Bisgaard 2002, PubMed: Nilbert 2008, 1 more item - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Thomas Hansen
+/+, ?/. 2 1 c.15_28del r.(?) p.(Gly6Alafs*20) InSiGHT pathogenic, VUS g.37035053_37035066del g.36993562_36993575del - - MLH1_000956 Insight class: 5 InSiGHT, PubMed: Overbeek 2007 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/., ?/., +/+ 11 1 c.18_34del r.(?) p.(Val7Argfs*18) InSiGHT pathogenic, VUS g.37035056_37035072del g.36993565_36993581del 17-bp del at ? - MLH1_000029 Insight class: 5 PubMed: Wijnen 1997,PubMed: Hendriks 2003,PubMed: de Jong 2004, PubMed: Wijnen 1997, InSiGHT, 3 more items - - Germline, SUMMARY record - - - - - Carli Tops, Juul Wijnen, INSiGHT group, Beate Dr. Betz, Michael Woods, InSiGHT - John-Paul Plazzer
?/. 1 - c.19G>T r.(?) p.(Val7Phe) - VUS g.37035057G>T g.36993566G>T Missense - MLH1_002065 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - Kristina Lagerstedt Robinson
+/+, ?/. 2 1 c.19_35del r.(?) p.(Val7Argfs*18) InSiGHT pathogenic, VUS g.37035057_37035073del g.36993566_36993582del Gly6fsX29 - MLH1_000030 Insight class: 5 InSiGHT, PubMed: Niessen 2006 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/. 1 - c.21T>C r.(=) p.(=) - VUS g.37035059T>C g.36993568T>C - - MLH1_001998 MGZ# 70745, Alamut: no change of splice-site usage - - - Germline - - - - - Andreas Laner
+/+, +/. 2 1 c.22dup r.(?) p.(Ile8Asnfs*23) InSiGHT pathogenic g.37035060dup g.36993569dup Submitter described this as 22insA, p.Ile8fsX. - MLH1_001410 Insight class: 5 InSiGHT - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Elke Holinski-Feder
?/?, ?/. 2 1 c.25C>T r.25c>u p.Arg9Trp InSiGHT VUS g.37035063C>T g.36993572C>T - - MLH1_001506 Insight class: 3 InSiGHT, PubMed: Borras 2012 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Gabriel Capella
?/. 5 1 c.27= r.(=) p.(=) - VUS g.37035065= g.36993574= 27G (wild-type) - MLH1_001867 Testing stopped when variant detected PubMed: Ward (2013) - - Germline - - - - - Robyn Ward
?/. 2 1 c.27G>A r.(=) p.(=) - VUS g.37035065G>A g.36993574G>A - - MLH1_001868 Testing stopped when variant detected PubMed: Ward (2013) - - Germline - - - - - InSiGHT - John-Paul Plazzer, Robyn Ward
+/+, ?/. 3 1 c.31del r.(?) p.(Leu11Trpfs*6) InSiGHT pathogenic, VUS g.37035069del g.36993578del - - MLH1_000957 Insight class: 5 InSiGHT, PubMed: Kadiyska 2006, PubMed: Kadiyska 2007 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/. 1 - c.34G>T r.(?) p.(Asp12Tyr) - VUS g.37035072G>T g.36993581G>T Missense - MLH1_002066 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - Kristina Lagerstedt Robinson
?/. 1 1 c.36_38del r.(?) p.Asp12del - VUS g.37035074_37035076del g.36993583_36993585del 36_38del - MLH1_001877 - - - - De novo - - - - - Ian Frayling
+/+, +/., ?/. 7 1 c.37del r.(?) p.(Glu13Argfs*4) InSiGHT pathogenic, VUS g.37035075del g.36993584del del G at 37 - MLH1_000034 Insight class: 5 InSiGHT, PubMed: Kurzawski 2002, PubMed: Jakubowska 2001, PubMed: Kurzawski 2002, 2 more items - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group, Michael Woods
?/. 1 1 c.37G>A r.(?) p.(Glu13Lys) - VUS g.37035075G>A g.36993584G>A - - MLH1_001879 Carrier frequency in Iceland (%): 0.06; Odds ratio for CRC (95%CI): 0.94 (0.22-4.12) PubMed: Haraldsdottir 2018 - - Germline - 0.06 - - - Sigurdis Haraldsdottir
+/+, +/. 2 1 c.37G>T r.(?) p.(Glu13*) InSiGHT pathogenic g.37035075G>T g.36993584G>T g->t at n37 - MLH1_000852 Insight class: 5 InSiGHT, M Nilbert (unpublished) 2003 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group
+/+, ?/. 2 1 c.38_39insCCCA r.(?) p.(Glu13Aspfs*19) InSiGHT pathogenic, VUS g.37035076_37035077insCCCA g.36993585_36993586insCCCA - - MLH1_000958 Insight class: 5 InSiGHT, PubMed: Rey 2004 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/., +/+ 2 1 c.39_40dup r.(?) p.(Thr14Argfs*4) InSiGHT VUS, pathogenic g.37035077_37035078dup g.36993586_36993587dup - - MLH1_000835 Insight class: 5 InSiGHT - - Germline, SUMMARY record - - - - - Juul Wijnen, InSiGHT - John-Paul Plazzer
-?/. 8 1 c.42A>C r.(?) p.Thr14= - likely benign g.37035080A>C g.36993589A>C - - MLH1_001881 - - - - Germline - - - - - Jack Ji
+/., ?/., +/+ 4 1 c.44dup r.(?) p.(Val16Glyfs*15) InSiGHT pathogenic, VUS g.37035082dup g.36993591dup - - MLH1_000036 Insight class: 5 PubMed: Mangold 2005, PubMed: Mangold 2005, InSiGHT - - Germline, SUMMARY record - - - - - Peter Propping, Prof. Dr. med., Michael Woods, InSiGHT - John-Paul Plazzer
?/. 2 1 c.46G>A r.(?) p.Val16Met - VUS g.37035084G>A g.36993593G>A - - MLH1_001885 - - - - Germline - - - - - Jack Ji
?/. 8 1 c.52C>T r.(?) p.Arg18Cys, p.(Arg18Cys) - VUS g.37035090C>T g.36993599C>T MLH1(NM_000249.3):c.52C>T (p.R18C), 52C>T - MLH1_001887 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Jack Ji, VKGL-NL_VUmc, Thomas Hansen
?/., +/+ 2 1 c.52del r.(?) p.(Arg18Alafs*18) InSiGHT VUS, pathogenic g.37035090del g.36993599del - - MLH1_000961 Insight class: 5 PubMed: Kim 2001, InSiGHT - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
+/+, +?/+, ?/., +/., -/., ?/+ 11 1 c.55A>T r.(?) p.(Ile19Phe) InSiGHT pathogenic, likely pathogenic, VUS, benign g.37035093A>T g.36993602A>T I19F - MLH1_000038 Insight class: 5, PALB2 PATH, {GR:478} InSiGHT, PubMed: Kurzawski 2002, PubMed: Andrew 2002, PubMed: Chao 2008 - - SUMMARY record, Germline/De novo (untested), Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Rolf Sijmons, Amie Blanco
?/. 1 1 c.58G>A r.(?) p.Ala20Thr - VUS g.37035096G>A g.36993605G>A - - MLH1_001893 - - - - Germline - - - - - Jack Ji
+/+, +/., ?/. 4 1 c.61del r.(?) p.(Ala21Argfs*15) InSiGHT pathogenic, VUS g.37035099del g.36993608del del G at 63 - MLH1_000962 Insight class: 5 InSiGHT, PubMed: Moslein 1996, PubMed: Kim 2001 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group, Michael Woods
+/+, ?/. 2 1 c.62C>A r.(?) p.(Ala21Glu) InSiGHT pathogenic, VUS g.37035100C>A g.36993609C>A - - MLH1_000930 Insight class: 5 InSiGHT, PubMed: Hardt 2011 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Beate Dr. Betz
+/+, ?/., +/., -/., +?/. 11 1 c.62C>T r.(?) p.(Ala21Val) InSiGHT pathogenic, VUS, benign, likely pathogenic g.37035100C>T g.36993609C>T A21V, Missense - MLH1_000040 Insight class: 5, {GR:479} InSiGHT, PubMed: Nilbert 2002, PubMed: Cederquist 2004, PubMed: Chao 2008, 2 more items - - SUMMARY record, Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Rolf Sijmons, Kristina Lagerstedt Robinson
?/., -?/., -/-, -/., +/. 19 1 c.65G>C r.(?) p.(Gly22Ala), p.Gly22Ala InSiGHT VUS, likely benign, benign, pathogenic g.37035103G>C g.36993612G>C MLH1(NM_000249.3):c.65G>C (p.G22A), G22A - MLH1_001732 VKGL data sharing initiative Nederland, Insight class: 1, MLH1:c.65G>C + MSH6:c.814G>T, {GR:330}, 1 more item InSiGHT, Mensenkamp and Ligtenberg, PubMed: Kets 2006 PubMed: Overbeek 2007, PubMed: Barnetson 2008, 4 more items - - CLASSIFICATION record, Germline, SUMMARY record, Unknown - 2/1051 controls, 0.07 - - - VKGL-NL_Nijmegen, Jack Ji, VKGL-NL_VUmc, VKGL-NL_Rotterdam, InSiGHT - John-Paul Plazzer, INSiGHT group, VKGL-NL_AMC, Michael Woods, Ans M.W. van den Ouweland, Rolf Sijmons, Sigurdis Haraldsdottir
+/+, +/., ?/. 5 1 c.67del r.(?) p.(Glu23Lysfs*13) InSiGHT pathogenic, VUS g.37035105del g.36993614del del G at 67, 63delG p.Ala21fs. - MLH1_000042 Insight class: 5, In vitro functional MMR analysis revealed a deficiency in MMR function. InSiGHT, Myriad et al.,, PubMed: Kurzawski 2006, PubMed: Nilbert 2008, PubMed: Mao 2008 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group, Michael Woods
?/?, +/., ?/. 4 1 c.67G>A r.(?) p.(Glu23Lys) InSiGHT VUS, pathogenic g.37035105G>A g.36993614G>A E23K - MLH1_000043 Insight class: 3, {GR:521} InSiGHT, PubMed: Wolf 2005, PubMed: Chao 2008 - - SUMMARY record, Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group, Rolf Sijmons
+/+, +/., ?/. 7 1 c.67G>T r.[66_116del, 67g>u], r.(?) p.[Glu23*, Glu23_Cys39del], p.(Glu23Ter) InSiGHT pathogenic, VUS g.37035105G>T g.36993614G>T G->T at 67, 67G->T, 1 more item - MLH1_001455 Insight class: 5, VKGL data sharing initiative Nederland InSiGHT, Norbury (unpublished), PubMed: Kruger 2002, PubMed: Mangold 2005, PubMed: Baehring 2006 - - SUMMARY record, CLASSIFICATION record, Germline - - - - - InSiGHT - John-Paul Plazzer, VKGL-NL_Nijmegen, INSiGHT group, Michael Woods, Rodney Scott
+/+, ?/. 2 1 c.68_78del r.(?) p.(Glu23Alafs*4) InSiGHT pathogenic, VUS g.37035106_37035116del g.36993615_36993625del Exon 1 68_78del11bps p.Glu23Alafs*4  - MLH1_001650 Insight class: 5 InSiGHT, Desiree du Sart - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group
?/?, -/., ?/., +?/., +/. 14 1 c.69A>T r.(?) p.(Glu23Asp) InSiGHT VUS, NA, benign, pathogenic g.37035107A>T g.36993616A>T E23D - MLH1_000046 Insight class: 3, {GR:173}, 1 more item InSiGHT, PubMed: Takahashi 2007, PubMed: Wanat 2007, Myriad et al.,, PubMed: Lastella 2006, 1 more item - - SUMMARY record, In vitro (cloned), Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Rolf Sijmons, Michael Woods, INSiGHT group
+/+, ?/., +/. 4 1 c.70del r.(?) p.(Val24Leufs*12) InSiGHT pathogenic, VUS g.37035108del g.36993617del - - MLH1_001349 Insight class: 5, {GR:521} InSiGHT, PubMed: Wolf 2006, PubMed: Wolf 2005, PubMed: Chao 2008 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Rolf Sijmons
+?/+?, -/., ?/., +?/., +/. 21 1 c.73A>T r.(?) p.(Ile25Phe) InSiGHT likely pathogenic, NA, benign, VUS, pathogenic g.37035111A>T g.36993620A>T I25F, I26F, codon 26 - MLH1_000048 Insight class: 4, {GR:174}, 2 more items InSiGHT, PubMed: Takahashi 2007, PubMed: Wanat 2007, PubMed: Weber 1997,PubMed: Yamamoto 1998, 6 more items - - SUMMARY record, In vitro (cloned), Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Rolf Sijmons, Michael Woods, INSiGHT group
+/+, +/., ?/. 6 1 c.73del r.(?) p.(Ile25Serfs*11) InSiGHT pathogenic, VUS g.37035111del g.36993620del del A at 73 - MLH1_000049 Insight class: 5 InSiGHT, Krepelova (unpublished), PubMed: Wehner 1997, PubMed: Lamberti 1999, PubMed: Mangold 2005 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Peter Propping, Prof. Dr. med., INSiGHT group, Michael Woods
-/., +/., ?/?, ?/., +?/. 15 1 c.74T>C r.(?) p.(Ile25Thr) InSiGHT benign, pathogenic, VUS, NA g.37035112T>C g.36993621T>C I25T, T->C at 74 - MLH1_000050 {GR:175}, Insight class: 3, 1 more item PubMed: Chao 2008, InSiGHT, PubMed: Takahashi 2007, PubMed: Wanat 2007, Norbury (unpublished), 1 more item - - Unknown, SUMMARY record, In vitro (cloned), Germline - - - - - Rolf Sijmons, InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group
?/., +/., +/+ 6 1 c.76C>T r.(?) p.(Gln26*), p.(Gln26Ter) InSiGHT VUS, pathogenic g.37035114C>T g.36993623C>T G>T, MLH1(NM_000249.3):c.76C>T (p.Q26*) - MLH1_000963 VKGL data sharing initiative Nederland, Insight class: 5 PubMed: Cravo 1999, PubMed: Katballe 2002, PubMed: Nilbert 2008, InSiGHT - - Germline, CLASSIFICATION record, SUMMARY record - - - - - Michael Woods, VKGL-NL_Rotterdam, InSiGHT - John-Paul Plazzer
+/., ?/., +/+ 4 1 c.76del r.(?) p.(Gln26Serfs*10) InSiGHT pathogenic, VUS g.37035114del g.36993623del - - MLH1_000052 Insight class: 5 PubMed: Mangold 2005, PubMed: Mangold 2005, InSiGHT - - Germline, SUMMARY record - - - - - Peter Propping, Prof. Dr. med., Michael Woods, InSiGHT - John-Paul Plazzer
+/., +/+ 2 1 c.78del r.(?) p.(Gln26Hisfs*10) InSiGHT pathogenic g.37035116del g.36993625del - - MLH1_001408 Insight class: 5 InSiGHT - - Germline, SUMMARY record - - - - - Matthias Kloor, InSiGHT - John-Paul Plazzer
?/. 1 1 c.79C>G r.(?) p.Arg27Gly - VUS g.37035117C>G g.36993626C>G - - MLH1_001900 - - - - Germline - - - - - Jack Ji
?/. 1 - c.80G>A r.(?) p.(Arg27Gln) - VUS g.37035118G>A - MLH1(NM_000249.3):c.80G>A (p.R27Q) - EPM2AIP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/., ?/? 2 1 c.80G>C r.(?) p.(Arg27Pro) InSiGHT VUS g.37035118G>C g.36993627G>C - - MLH1_000931 Insight class: 3 PubMed: Hardt 2011, InSiGHT - - Germline, SUMMARY record - - - - - Beate Dr. Betz, InSiGHT - John-Paul Plazzer
+/., ?/., -/., +?/., +/+ 38 1 c.83C>T r.(?) p.(Pro28Leu), p.Pro28Leu InSiGHT pathogenic, benign, likely pathogenic, VUS, NA g.37035121C>T g.36993630C>T 83C->T, P28L, 83C>T - MLH1_000053 {GR:55}, Authors describe the in vitro functional analysis as showing reduced or loss of MMR function., 5 more items PubMed: Hardt 2011, PubMed: Wehner 1997, PubMed: Kurzawski 2002, PubMed: Lastella 2006, InSiGHT, 15 more items - rs63750792 Germline, Unknown, In vitro (cloned), SUMMARY record - -, 1/2795 individuals - - - Peter Propping, Prof. Dr. med., INSiGHT group, Rolf Sijmons, Michael Woods, Mev Dominguez Valentin, Mohammed Faruq, InSiGHT - John-Paul Plazzer
+/., +/+ 2 1 c.84del r.(?) p.(Ala29Leufs*7) InSiGHT pathogenic g.37035122del g.36993631del del A at 84 - MLH1_000854 Insight class: 5 Deffenbaugh (unpublished), InSiGHT - - Germline, SUMMARY record - - - - - INSiGHT group, InSiGHT - John-Paul Plazzer
?/. 1 1 c.84_86dup r.(?) p.(Ala29dup) - VUS g.37035122_37035124dup g.36993631_36993633dup 84_86dupAGC - MLH1_001906 - - - - Unknown - - - - - Michael Peter Farrell
?/., -/., +/., +?/., +/+ 29 1 c.85G>T r.(?) p.(Ala29Ser), p.0 - VUS, pathogenic, benign, NA g.37035123G>T g.36993632G>T A29S, G>T at 85 - MLH1_000054 {GR:9}, VKGL data sharing initiative Nederland, 4 more items PubMed: Wagner 2003,PubMed: Chao 2008, Myriad et al.,, PubMed: Lastella 2006, PubMed: Raevaara 2005, 7 more items - - Germline, Unknown, CLASSIFICATION record, In vitro (cloned), SUMMARY record - -, Private - - - Juul Wijnen, INSiGHT group, Hans Gille, Rolf Sijmons, Michael Woods, Robyn Ward, Megan Hitchins, VKGL-NL_Nijmegen, InSiGHT - John-Paul Plazzer
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