Full data view for gene MLH1


Criteria used for classification are available from 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 We encourage submission of relevant unpublished information to assist in the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.

9577 entries on 96 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

ClassClinical     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.(?_-198)_1731+?del r.(?) p.? pathogenic Unknown g.37034841_37083822del - 1-?_1731+?del Deletion exons 1–15 - MLH1_002064 - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-198)_306+?del r.(?) p.? pathogenic Unknown g.37034841_37042544del - 1-?_306+?del Deletion exons 1–3 - MLH1_002063 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-198)_306+?del r.(?) p.? pathogenic Unknown g.37034841_37042544del - 1-?_306+?del Deletion exons 1–3 - MLH1_002063 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-198)_306+?del r.(?) p.? pathogenic Unknown g.37034841_37042544del - 1-?_306+?del Deletion exons 1–3 - MLH1_002063 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
?/. 12 c.1254T>R r.(?) p.(Asp418Glu) NA Unknown g.37067343T>R - - - MLH1_001093 Results from site-directed mutagenesis PubMed: Chen 2004 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. ? c.? r.(?) p.? VUS Unknown g.36998760_? - Balanced translocation - MLH1_000000 Balanced translocation. Found in 1 family PubMed: Haraldsdottir 2018 - - Germline - - - 0 - DNA SEQ - WGS, confirmed by karyotyping and FISH, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - M - Iceland - - 0 - - 1 Sigurdis Haraldsdottir
+/+ 5i_8i c.[453+625_545+921delinsTG;545+1271_677+737delinsCA] r.? p.Val152Argfs*8 InSiGHT: 5 Unknown g.[37049179_37051317delinsTG;37051667_37054327delinsCA] - - - MLH1_001305 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 5i_8i c.[453+625_545+921delinsTG;545+1271_677+737delinsCA] r.? p.Val152Argfs*8 VUS Unknown g.[37049179_37051317delinsTG;37051667_37054327delinsCA] - Authors describe mutation as the deletion of Exon 6-8 with the partial retention of Intron 6 - MLH1_001305 - PubMed: McVety 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 5i_8i c.[453+625_545+921delinsTG;545+1271_677+737delinsCA] r.? p.Val152Argfs*8 VUS Unknown g.[37049179_37051317delinsTG;37051667_37054327delinsCA] - Del Exon 6-8;g.157346_159484del2139;g.157344_157345dupTG;g.159834_162494del2661;g.162494_162495insCA - MLH1_001305 - PubMed: Li 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/+ _1_19_ c.-73960_*46597del r.0? p.0? InSiGHT: 5 Unknown g.36961079_37138741del - - - MLH1_000959 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1_19_ c.-73960_*46597del r.0? p.0? VUS Unknown g.36961079_37138741del - Deletion of Exon 1-19 - MLH1_000959 - PubMed: Staaf 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_19_ c.-73960_*46597del r.0? p.0? pathogenic Unknown g.36961079_37138741del - -73960_*46597del - MLH1_000959 - - - - De novo - - - 0 - DNA ? - screen data 2011-01-01 cancer, skin, CRC - A: in Win (2011) Rectal;Ca 48y in father; Father: Rectal;CA 48y, and pat g'father Colon(not specified);Carcinoma 23y M - - - - 0 - - 1 Ian Frayling
-/- _1 c.-4864C>A r.(=) p.(=) InSiGHT: 1 Unknown g.37030175C>A - - - MLH1_000938 Insight class: 1 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-4864C>A r.(=) p.(=) VUS Unknown g.37030175C>A - - - MLH1_000938 - PubMed: Schafmayer 2007 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1 c.-4864C>A r.(=) p.(=) VUS Unknown g.37030175C>A - - - MLH1_000938 - - - rs9311149 Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1 c.-593G>C r.(=) p.(=) VUS Unknown g.37034446G>C - EPM2AIP1 123C>G p.= - MLH1_001803 biallelic expression of EPM2AIP1 c.123C>G, MLH1 no informative SNP - - - Germline ? - - 0 - DNA SEQ - - CRC - - father 71 y CC, sister 45 y breast and ovarial cancer, other sister breast and brain cancer, daughter and son 2-3 benign adenomas F - Germany - - 0 - - 1 Elke Holinski-Feder
?/. _1 c.-477T>C r.(=) p.(=) VUS Maternal (confirmed) g.37034562T>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 - - - 0 - DNA SEQ - - CRC - - no cancers reported until 80y of age in parents or family F - Germany - - 0 - - 1 Elke Holinski-Feder
?/. _1 c.-435_-432del r.(=) p.(=) VUS Unknown g.37034604_37034607del - - - MLH1_001801 Testing stopped when variant detected PubMed: Ward (2013) - - Germline - - - 0 - DNA SEQ - screen data 2012-01-01 CRC - PubMed: Ward (2013) - F - United States African American - 0 - - 1 Robyn Ward
?/. _1 c.-435_-432del r.(=) p.(=) NA Unknown g.37034604_37034607del - - - MLH1_001801 105% and 102% activity relative to wild-type promoter in HCT116 and HEK293 cells, respectively. PubMed: Ward (2013) - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-413_-411del r.(=) p.(=) VUS Unknown g.37034626_37034628del - - - MLH1_001800 Testing stopped when variant detected PubMed: Ward (2013) - - Germline - - - 0 - DNA SEQ - screen data 2012-01-01 CRC, cancer, endometrial - PubMed: Ward (2013) - F - United States white - 0 - - 1 Robyn Ward
?/. _1 c.-413_-411del r.(=) p.(=) NA Unknown g.37034626_37034628del - - - MLH1_001800 77% and 89% activity relative to wild-type promoter in HCT116 and HEK293 cells, respectively. - - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ _1_2i c.-381_207+606del r.0? p.0? InSiGHT: 5 Unknown g.37034658_37038806del - - - MLH1_000944 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1_2i c.-381_207+606del r.0? p.0? VUS Unknown g.37034658_37038806del - del Ex1-2, ~4.1kb - MLH1_000944 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern - - ? - PubMed: van der Klift, H.2005 - ? - Canada French Canadian - 0 - - 1 Juul Wijnen
?/. _1_2i c.-381_207+606del r.0? p.0? VUS Unknown g.37034658_37038806del - Deletion of Exon 1-2 - MLH1_000944 - PubMed: van der Klift 2005,PubMed: Chong 2009 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1 c.-369A>G r.(=) p.(=) VUS Unknown g.37034670A>G - EPM2AIP1 -102T>C (MLH1 -369A>G not in 5`UTR) - MLH1_001799 - - - - Germline - - - 0 - DNA SEQ - - CRC - - father 40 y CC and died F - Germany - - 0 - - 1 Elke Holinski-Feder
-?/-? _1 c.-269C>G r.(=) p.(=) InSiGHT: 2 Unknown g.37034770C>G - - - MLH1_000002 Insight class: 2 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-269C>G r.(=) p.(=) VUS Unknown g.37034770C>G - EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR) - MLH1_000002 EPM2AIP1 c.-202G>C biallelic, MLH1 without informative SNPs - - - Germline ? - - 0 - DNA SEQ - - CRC - - - M - - - - 0 - - 1 Elke Holinski-Feder
?/. _1 c.-269C>G r.(=) p.(=) VUS Unknown g.37034770C>G - EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR) - MLH1_000002 EPM2AIP1 c.-202G>C biallelic, MLH1 without informative SNPs - - - Germline ? - - 0 - DNA SEQ - - CRC - - 56 y ovarial metastasis, mother 54 y CRC, died at age 63 y F - Germany - - 0 - - 1 Elke Holinski-Feder
?/. _1 c.-269C>G r.(=) p.(=) VUS Unknown g.37034770C>G - EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR) - MLH1_000002 germline methylation on c.-269G variant allele - - - Germline - - - 0 - DNA SEQ - - CRC - - constitutional MLH1 epimutation carrier; no family history ? - - - - 0 - - 1 Elke Holinski-Feder
?/. _1 c.-269C>G r.(=) p.(=) VUS Unknown g.37034770C>G - EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR) - MLH1_000002 - - - - Germline - - - 0 - DNA SEQ - - cancer, endometrial - - no family history F - Germany - - 0 - - 1 Elke Holinski-Feder
?/. _1 c.-269C>G r.(=) p.(=) VUS Unknown g.37034770C>G - EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR) - MLH1_000002 - - - - Germline ? - - 0 - DNA MLPA, SEQ-NG, SEQ - - CRC - - - M - Germany - - 0 - - 1 Elke Holinski-Feder
?/. _1 c.-269C>G r.(=) p.(=) VUS Unknown g.37034770C>G - EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR) - MLH1_000002 - - - - Germline ? - - 0 - DNA MAPH, SEQ-NG - - CRC - - no family history M - Germany - - 0 - - 1 Elke Holinski-Feder
?/. _1 c.-269C>G r.(=) p.(=) VUS Unknown g.37034770C>G - EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR) - MLH1_000002 - - - - Germline ? - - 0 - DNA MLPA, SEQ-NG - - CRC - - - ? - Germany - - 0 - - 1 Elke Holinski-Feder
-?/. _1 c.-269C>G r.(=) p.(=) likely benign Unknown g.37034770C>G - EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR) - MLH1_000002 MLH1 in heterozygous SNPs c.-93G>A and c.655A>G biallelic, EPM2AIP1 biallelic in c.-202G>C - - - Germline ? - - 0 - DNA MLPA, SEQ - - CRC - - no family history F - Germany - - 0 - - 1 Elke Holinski-Feder
?/. _1 c.-269C>G r.(=) p.(=) VUS Unknown g.37034770C>G - EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR) - MLH1_000002 - - - - Germline ? - - 0 - DNA SEQ - - CRC - - no tumors reported in family, healthy mother M - Germany - - 0 - - 1 Elke Holinski-Feder
?/. _1 c.-269C>G r.= p.= VUS Parent #1 g.37034770C>G - -269C>G - MLH1_000002 - PubMed: Zavodna 2006 - - Germline - ? - 0 - DNA SEQ - - ? - - healthy controls - - Slovakia (Slovak Republic) - - 0 - - 1 INSiGHT group
?/. _1 c.-269C>G r.= p.= VUS Parent #1 g.37034770C>G - -269C>G - MLH1_000002 - PubMed: Zavodna 2006 - - Germline - ? - 0 - DNA SEQ - - ? - - - ? - Slovakia (Slovak Republic) - - 0 - - 1 INSiGHT group
?/. _1 c.-269C>G r.= p.= VUS Parent #1 g.37034770C>G - -269C>G - MLH1_000002 - PubMed: Zavodna 2006 - - Germline - ? - 0 - DNA SEQ - - ? - - - ? - Slovakia (Slovak Republic) - - 0 - - 1 INSiGHT group
?/. _1 c.-269C>G r.(=) p.(=) VUS Unknown g.37034770C>G - - - MLH1_000002 - PubMed: Pinto 2017 - - Germline - - - 0 - DNA ? - - CRC - PubMed: Pinto el al. 2017 Constitutional methylation of the MLH1 promoter; patient′s father was affected by kidney and liver cancer at the age of 60 years and the mother was affected with an endometrial cancer at the age of 65 years (Fig. 2D) M - - - - 0 - - 1 InSiGHT - John-Paul Plazzer
?/. _1 c.-261G>A r.(=) p.(=) VUS Unknown g.37034778G>A - - - MLH1_001797 - PubMed: Pinto 2017 - - Germline - - - 0 - DNA ? - - - - PubMed: Pinto el al. 2017 - - - - - - 0 - - 1 InSiGHT - John-Paul Plazzer
?/. _1 c.-230G>C r.(=) p.(=) VUS Unknown g.37034809G>C - MLH1 -230G>C or EPM2AIP1 -241C>G; not in 5`UTR of MLH1 or EPM2AIP1 - MLH1_001796 - - - - Germline ? - - 0 - DNA MLPA, SEQ-NG - - CRC - - father 71 y CC, half-brother (paternal) 40 y adenoma, paternal cousin (female) 48 y breast cancer F - Germany - - 0 - - 1 Elke Holinski-Feder
+/+ _1_1i c.(?_-198)_(116+1_117-1)del r.0? p.0? InSiGHT: 5 Unknown g.(?_37034841)_(37035155_37038109)del - - - MLH1_000941 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1_1i c.(?_-198)_(116+1_117-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37035155_37038109)del - Deletion of Exon 1 - MLH1_000941 - PubMed: Zhu 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_1i c.(?_-198)_(116+1_117-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37035155_37038109)del - Deletion of Exon 1 - MLH1_000941 - PubMed: Barnetson 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_1i c.(?_-198)_(116+1_117-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37035155_37038109)del - Deletion of Exon 1 - MLH1_000941 - PubMed: De Lellis 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-198)_(116+1_117-1)del r.0? p.0? pathogenic Unknown g.(?_37034841)_(37035155_37038109)del - (?_-198)_116+?del - MLH1_000941 WT MaxEntScan score: not determined; Variant MaxEntScan score: not determined; Difference in MaxEntScan score between variant and WT (%): not determined InSiGHT, PubMed: Rossi 2017 - - Germline - - - 0 - DNA ? - - ? - InSiGHT, PubMed: Rossi 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America - - Chile - - 0 - - 2 Mev Dominguez Valentin
?/? _1_1i c.(?_-198)_(116+1_117-1)dup r.0? p.0? InSiGHT: 3 Unknown g.(?_37034841)_(37035155_37038109)dup - - - MLH1_000942 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1_1i c.(?_-198)_(116+1_117-1)dup r.0? p.0? VUS Unknown g.(?_37034841)_(37035155_37038109)dup - Duplication of Exon 1 - MLH1_000942 - PubMed: Zhu 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/+ _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? InSiGHT: 5 Unknown g.(?_37034841)_(37038201_37042445)del - - - MLH1_001607 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37038201_37042445)del - Deletion of Exon 1-2 - MLH1_001607 - PubMed: Zhang 2006,PubMed: Gylling 2009 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37038201_37042445)del - Deletion of Exon 1-2 - MLH1_001607 - PubMed: Baudhuin 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37038201_37042445)del - (?_-198)_207+?del - MLH1_001607 2 index patients: male 41 y C. asc. Ca T3No , other female 46 y CC C18.9, no IHC, both Bethesda-pos. Elke Holinski-Feder and Monika Morak - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 INSiGHT group
?/. _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? NA Unknown g.(?_37034841)_(37038201_37042445)del - Deletion of Exon 1-2 - MLH1_001607 Identified in DU145 cell line. PubMed: Bertholon 2006 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ _1_3i c.(?_-198)_(306+1_307-1)del r.0? p.0? InSiGHT: 5 Unknown g.(?_37034841)_(37042545_37045891)del - - - MLH1_000946 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1_3i c.(?_-198)_(306+1_307-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37042545_37045891)del - Deletion of Exon 1-3 - MLH1_000946 - PubMed: Spaepen 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_3i c.(?_-198)_(306+1_307-1)del r.0? p.0? pathogenic Maternal (confirmed) g.(?_37034841)_(37042545_37045891)del - Deletion of Exon 1-3 - MLH1_000946 - PubMed: Spaepen 2006 Genuardi (unpublished) - - Germline - - - 0 - DNA MLPA - - HNPCC - - - M - Italy white - 0 additional info and pedigree - 1 Maurizio Genuardi
+/. _1_3i c.(?_-198)_(306+1_307-1)del r.0? p.0? pathogenic Unknown g.(?_37034841)_(37042545_37045891)del - (?-198)_306+?del/Del exon 1-3 - MLH1_000946 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
+/. - c.(?_-198)_(306+1_307-1)del r.spl? p.? pathogenic Unknown g.(?_37034841)_(37042545_37045891)del - deletions of exons 1–3 - MLH1_000946 - - - - Germline - - - 0 - DNA ? - - ? - PubMed: Challis 2016 54-year-old female with a history of ovarian and colorectal malignancy was found to have an ACC; family history revealed her mother had died of ACC and her sister had previously been diagnosed with endometrial and colorectal cancers. F - - - - 0 - - 1 InSiGHT - John-Paul Plazzer
+/. 1-3 c.(?_-198)_(306+1_307-1)del r.? p.? 5 Maternal (inferred) g.(?_37034841)_(37042545_37045891)del - c.1_306del - MLH1_000946 Insight class: 5 - - - Germline/De novo (untested) - - - 0 - DNA MLPA - - HNPCC - - - M - Russian Federation Russian - 0 - - 1 Grigorij Yanus
+/+ _1_4i c.(?_-198)_(380+1_381-1)del r.0? p.0? InSiGHT: 5 Unknown g.(?_37034841)_(37045966_37048481)del - - - MLH1_001570 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1_4i c.(?_-198)_(380+1_381-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37045966_37048481)del - 1-?_388+?del (Del ex01-04 (80 Kb del)) - MLH1_001570 Variant Allele: Maternal Inferred José Luis Soto - - Germline - - - 0 - DNA MLPA, arrayCGH - - CRC - - - F - - - - 0 - - 1 INSiGHT group
+/+ _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? InSiGHT: 5 Unknown g.(?_37034841)_(37050397_37053310)del - - - MLH1_001724 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37050397_37053310)del - Deletion of Exon 1-6 - MLH1_001724 - PubMed: Taylor 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37050397_37053310)del - MLH1 exon 1-6 del phase unknown - MLH1_001724 - - - - Germline - - - 0 - DNA MLPA - - ? - - - - - - - - 0 - - 1 Mark Jenkins
?/. _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37050397_37053310)del - Exon 1 to Exon 6 1-?_545+?del p.Met1Valfs*9 (reported as p.Met1_Arg182>Valfs*9) - MLH1_001724 - Desiree du Sart - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 INSiGHT group
?/. _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37050397_37053310)del - Exon 1 to Exon 6 1-?_545+?del p.Met1Valfs*9 (reported as p.Met1_Arg182>Valfs*9) - MLH1_001724 - Desiree du Sart - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 INSiGHT group
?/. _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37050397_37053310)del - - - MLH1_001724 MLH1:c.1569G>T; MLH1:c.(?_-198)_545+?del (in cis) Mark Jenkins - - Germline - - - 0 - DNA ? - - ? - - - - - - - - 0 - - 1 INSiGHT group
+/+ _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? InSiGHT: 5 Unknown g.(?_37034841)_(37059091_37061800)del - - - MLH1_000949 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? pathogenic Unknown g.(?_37034841)_(37059091_37061800)del - Deletion E1-10 - MLH1_000949 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
+/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? pathogenic Unknown g.(?_37034841)_(37059091_37061800)del - Deletion E1-10 - MLH1_000949 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
+/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? pathogenic Unknown g.(?_37034841)_(37059091_37061800)del - Deletion E1-10 - MLH1_000949 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
+/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? pathogenic Unknown g.(?_37034841)_(37059091_37061800)del - Deletion E1-10 - MLH1_000949 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
+/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? pathogenic Parent #1 g.(?_37034841)_(37059091_37061800)del - ex01_ex10del - MLH1_000949 - - - - Germline - - - 0 - DNA SEQ - - HNPCC - - - ? - Germany - - 0 - - 1 Beate Dr. Betz
?/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37059091_37061800)del - Deletion of Exon 1-10 - MLH1_000949 - PubMed: Wang 2002 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37059091_37061800)del - Deletion of Exon 1-10 - MLH1_000949 - PubMed: Wang 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37059091_37061800)del - Deletion of Exon 1-10 - MLH1_000949 - PubMed: Grabowski 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37059091_37061800)del - Deletion of Exon 1-10 - MLH1_000949 - PubMed: Mangold 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37059091_37061800)del - Deletion of Exon 1-10 - MLH1_000949 - PubMed: Mangold 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/+ _1_11i c.(?_-198)_(1038+1_1039-1)del r.0? p.0? InSiGHT: 5 Unknown g.(?_37034841)_(37061955_37067127)del - - - MLH1_001667 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1_11i c.(?_-198)_(1038+1_1039-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37061955_37067127)del - Exon 1 to Exon 11 (1-?_1038+?del) - MLH1_001667 - Desiree du Sart - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 INSiGHT group
+/+ _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? InSiGHT: 5 Unknown g.(?_37034841)_(37070424_37081676)del - - - MLH1_000013 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS Parent #2 g.(?_37034841)_(37070424_37081676)del - Deletion of Exon 1-13 - MLH1_000013 - PubMed: Wagner 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37070424_37081676)del - del Ex1-13 - MLH1_000013 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern - - ? - PubMed: van der Klift, H.2005 - ? - United States - - 0 - - 1 Juul Wijnen
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37070424_37081676)del - Deletion of Exon 1-13 - MLH1_000013 - PubMed: Baudhuin 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37070424_37081676)del - Deletion of Exon 1-13 - MLH1_000013 - PubMed: Vaughn 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37070424_37081676)del - Exon 1 to Exon 13 1-?_1588+?del p.Met1Phefs*15 (reported as p.Met1_Val520>Phefs*15) - MLH1_000013 - Desiree du Sart - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 INSiGHT group
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37070424_37081676)del - (?_-198)_1558+?del - MLH1_000013 - Robert HaileTherese Teitsch - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 INSiGHT group
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37070424_37081676)del - (?_-198)_1558+?del - MLH1_000013 - Robert HaileTherese Teitsch - - Germline - - - 0 - DNA SEQ - - ? - - 2 families, 4 affected carriers & 3 affected carriers - - - - - 0 - - 1 INSiGHT group
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37070424_37081676)del - (?_-198)_1558+?del - MLH1_000013 - Polly Newcomb and John Potter - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 INSiGHT group
+/+ _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? InSiGHT: 5 Unknown g.(?_37034841)_(37083823_37089009)del - - - MLH1_001614 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? VUS Parent #1 g.(?_37034841)_(37083823_37089009)del - Deletion of Exon 1-15 - MLH1_001614 - PubMed: Pistorius 2007 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37083823_37089009)del - Deletion of Exon 1-15 - MLH1_001614 - PubMed: Nilbert 2002 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37083823_37089009)del - Deletion of Exon 1-15 - MLH1_001614 - PubMed: Mangold 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37083823_37089009)del - Deletion of Exon 1-15 - MLH1_001614 - PubMed: Lagerstedt Robinson 2007 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37083823_37089009)del - Deletion of Exon 1-15 - MLH1_001614 - PubMed: Staaf 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? pathogenic Unknown g.(?_37034841)_(37083823_37089009)del - del ex1-15 - MLH1_001614 - - - - Germline - - - 0 - DNA MLPA - - CRC - - - M - Sweden white - 0 - - 1 Kristina Lagerstedt Robinson
?/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? VUS Unknown g.(?_37034841)_(37083823_37089009)del - (?_-198)_1731+?del - MLH1_001614 - Kristina Lagerstedt Robinson,PubMed: Lagerstedt Robinson 2007,PubMed: Nilbert 2002 - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 INSiGHT group
+/+ _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? InSiGHT: 5 Unknown g.(?_37034841)_(37092337_?)del - - - MLH1_001571 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? pathogenic Parent #1 g.(?_37034841)_(37092337_?)del - - - MLH1_001571 part or all of the MLH1 gene missing PubMed: Zidan 2007 - - Germline - - - 0 - DNA MLPA - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? VUS Unknown g.(?_37034841)_(37092337_?)del - del Ex1-19, >57kb - MLH1_001571 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern - - ? - PubMed: van der Klift, H.2005 - ? - Netherlands - - 0 - - 1 Juul Wijnen
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