All transcript variants in 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 We encourage submission of relevant unpublished information to assist in the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     

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     
+/. - c.(?_-198)_1731+?del r.(?) p.? pathogenic g.37034841_37083822del - 1-?_1731+?del Deletion exons 1–15 - MLH1_002064 - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-198)_306+?del r.(?) p.? pathogenic g.37034841_37042544del - 1-?_306+?del Deletion exons 1–3 - MLH1_002063 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-198)_306+?del r.(?) p.? pathogenic g.37034841_37042544del - 1-?_306+?del Deletion exons 1–3 - MLH1_002063 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-198)_306+?del r.(?) p.? pathogenic g.37034841_37042544del - 1-?_306+?del Deletion exons 1–3 - MLH1_002063 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
?/. 12 c.1254T>R r.(?) p.(Asp418Glu) NA g.37067343T>R - - - MLH1_001093 Results from site-directed mutagenesis PubMed: Chen 2004 - - In vitro (cloned) - - - 0 - Michael Woods
?/. ? c.? r.(?) p.? VUS g.36998760_? - Balanced translocation - MLH1_000000 Balanced translocation. Found in 1 family PubMed: Haraldsdottir 2018 - - Germline - - - 0 - Sigurdis Haraldsdottir
+/+ 5i_8i c.[453+625_545+921delinsTG;545+1271_677+737delinsCA] r.? p.Val152Argfs*8 InSiGHT: 5 g.[37049179_37051317delinsTG;37051667_37054327delinsCA] - - - MLH1_001305 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 5i_8i c.[453+625_545+921delinsTG;545+1271_677+737delinsCA] r.? p.Val152Argfs*8 VUS 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 - Michael Woods
?/. 5i_8i c.[453+625_545+921delinsTG;545+1271_677+737delinsCA] r.? p.Val152Argfs*8 VUS 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 - Michael Woods
+/+ _1_19_ c.-73960_*46597del r.0? p.0? InSiGHT: 5 g.36961079_37138741del - - - MLH1_000959 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1_19_ c.-73960_*46597del r.0? p.0? VUS g.36961079_37138741del - Deletion of Exon 1-19 - MLH1_000959 - PubMed: Staaf 2008 - - Germline - - - 0 - Michael Woods
+/. _1_19_ c.-73960_*46597del r.0? p.0? pathogenic g.36961079_37138741del - -73960_*46597del - MLH1_000959 - - - - De novo - - - 0 - Ian Frayling
-/- _1 c.-4864C>A r.(=) p.(=) InSiGHT: 1 g.37030175C>A - - - MLH1_000938 Insight class: 1 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-4864C>A r.(=) p.(=) VUS g.37030175C>A - - - MLH1_000938 - PubMed: Schafmayer 2007 - - Germline - - - 0 - Michael Woods
?/. _1 c.-4864C>A r.(=) p.(=) VUS g.37030175C>A - - - MLH1_000938 - - - rs9311149 Germline - - - 0 - Michael Woods
?/. _1 c.-593G>C r.(=) p.(=) VUS g.37034446G>C - EPM2AIP1 123C>G p.= - MLH1_001803 biallelic expression of EPM2AIP1 c.123C>G, MLH1 no informative SNP - - - Germline ? - - 0 - Elke Holinski-Feder
?/. _1 c.-477T>C r.(=) p.(=) VUS 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 - Elke Holinski-Feder
?/. _1 c.-435_-432del r.(=) p.(=) VUS g.37034604_37034607del - - - MLH1_001801 Testing stopped when variant detected PubMed: Ward (2013) - - Germline - - - 0 - Robyn Ward
?/. _1 c.-435_-432del r.(=) p.(=) NA 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 - Robyn Ward
?/. _1 c.-413_-411del r.(=) p.(=) VUS g.37034626_37034628del - - - MLH1_001800 Testing stopped when variant detected PubMed: Ward (2013) - - Germline - - - 0 - Robyn Ward
?/. _1 c.-413_-411del r.(=) p.(=) NA g.37034626_37034628del - - - MLH1_001800 77% and 89% activity relative to wild-type promoter in HCT116 and HEK293 cells, respectively. - - - In vitro (cloned) - - - 0 - Robyn Ward
+/+ _1_2i c.-381_207+606del r.0? p.0? InSiGHT: 5 g.37034658_37038806del - - - MLH1_000944 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1_2i c.-381_207+606del r.0? p.0? VUS g.37034658_37038806del - del Ex1-2, ~4.1kb - MLH1_000944 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
?/. _1_2i c.-381_207+606del r.0? p.0? VUS g.37034658_37038806del - Deletion of Exon 1-2 - MLH1_000944 - PubMed: van der Klift 2005,PubMed: Chong 2009 - - Germline - - - 0 - Michael Woods
?/. _1 c.-369A>G r.(=) p.(=) VUS g.37034670A>G - EPM2AIP1 -102T>C (MLH1 -369A>G not in 5`UTR) - MLH1_001799 - - - - Germline - - - 0 - Elke Holinski-Feder
-?/-? _1 c.-269C>G r.(=) p.(=) InSiGHT: 2 g.37034770C>G - - - MLH1_000002 Insight class: 2 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-269C>G r.(=) p.(=) VUS 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 - Elke Holinski-Feder
?/. _1 c.-269C>G r.(=) p.(=) VUS 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 - Elke Holinski-Feder
?/. _1 c.-269C>G r.(=) p.(=) VUS g.37034770C>G - EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR) - MLH1_000002 germline methylation on c.-269G variant allele - - - Germline - - - 0 - Elke Holinski-Feder
?/. _1 c.-269C>G r.(=) p.(=) VUS g.37034770C>G - EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR) - MLH1_000002 - - - - Germline - - - 0 - Elke Holinski-Feder
?/. _1 c.-269C>G r.(=) p.(=) VUS g.37034770C>G - EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR) - MLH1_000002 - - - - Germline ? - - 0 - Elke Holinski-Feder
?/. _1 c.-269C>G r.(=) p.(=) VUS g.37034770C>G - EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR) - MLH1_000002 - - - - Germline ? - - 0 - Elke Holinski-Feder
?/. _1 c.-269C>G r.(=) p.(=) VUS g.37034770C>G - EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR) - MLH1_000002 - - - - Germline ? - - 0 - Elke Holinski-Feder
-?/. _1 c.-269C>G r.(=) p.(=) likely benign 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 - Elke Holinski-Feder
?/. _1 c.-269C>G r.(=) p.(=) VUS g.37034770C>G - EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR) - MLH1_000002 - - - - Germline ? - - 0 - Elke Holinski-Feder
?/. _1 c.-269C>G r.= p.= VUS g.37034770C>G - -269C>G - MLH1_000002 - PubMed: Zavodna 2006 - - Germline - ? - 0 - INSiGHT group
?/. _1 c.-269C>G r.= p.= VUS g.37034770C>G - -269C>G - MLH1_000002 - PubMed: Zavodna 2006 - - Germline - ? - 0 - INSiGHT group
?/. _1 c.-269C>G r.= p.= VUS g.37034770C>G - -269C>G - MLH1_000002 - PubMed: Zavodna 2006 - - Germline - ? - 0 - INSiGHT group
?/. _1 c.-269C>G r.(=) p.(=) VUS g.37034770C>G - - - MLH1_000002 - PubMed: Pinto 2017 - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-261G>A r.(=) p.(=) VUS g.37034778G>A - - - MLH1_001797 - PubMed: Pinto 2017 - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-230G>C r.(=) p.(=) VUS g.37034809G>C - MLH1 -230G>C or EPM2AIP1 -241C>G; not in 5`UTR of MLH1 or EPM2AIP1 - MLH1_001796 - - - - Germline ? - - 0 - Elke Holinski-Feder
+/+ _1_1i c.(?_-198)_(116+1_117-1)del r.0? p.0? InSiGHT: 5 g.(?_37034841)_(37035155_37038109)del - - - MLH1_000941 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1_1i c.(?_-198)_(116+1_117-1)del r.0? p.0? VUS g.(?_37034841)_(37035155_37038109)del - Deletion of Exon 1 - MLH1_000941 - PubMed: Zhu 2005 - - Germline - - - 0 - Michael Woods
?/. _1_1i c.(?_-198)_(116+1_117-1)del r.0? p.0? VUS g.(?_37034841)_(37035155_37038109)del - Deletion of Exon 1 - MLH1_000941 - PubMed: Barnetson 2006 - - Germline - - - 0 - Michael Woods
?/. _1_1i c.(?_-198)_(116+1_117-1)del r.0? p.0? VUS g.(?_37034841)_(37035155_37038109)del - Deletion of Exon 1 - MLH1_000941 - PubMed: De Lellis 2006 - - Germline - - - 0 - Michael Woods
+/. _1_1i c.(?_-198)_(116+1_117-1)del r.0? p.0? pathogenic 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 - Mev Dominguez Valentin
?/? _1_1i c.(?_-198)_(116+1_117-1)dup r.0? p.0? InSiGHT: 3 g.(?_37034841)_(37035155_37038109)dup - - - MLH1_000942 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1_1i c.(?_-198)_(116+1_117-1)dup r.0? p.0? VUS g.(?_37034841)_(37035155_37038109)dup - Duplication of Exon 1 - MLH1_000942 - PubMed: Zhu 2005 - - Germline - - - 0 - Michael Woods
+/+ _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? InSiGHT: 5 g.(?_37034841)_(37038201_37042445)del - - - MLH1_001607 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? VUS g.(?_37034841)_(37038201_37042445)del - Deletion of Exon 1-2 - MLH1_001607 - PubMed: Zhang 2006,PubMed: Gylling 2009 - - Germline - - - 0 - Michael Woods
?/. _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? VUS g.(?_37034841)_(37038201_37042445)del - Deletion of Exon 1-2 - MLH1_001607 - PubMed: Baudhuin 2005 - - Germline - - - 0 - Michael Woods
?/. _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? VUS 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 - INSiGHT group
?/. _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? NA g.(?_37034841)_(37038201_37042445)del - Deletion of Exon 1-2 - MLH1_001607 Identified in DU145 cell line. PubMed: Bertholon 2006 - - In vitro (cloned) - - - 0 - Michael Woods
+/+ _1_3i c.(?_-198)_(306+1_307-1)del r.0? p.0? InSiGHT: 5 g.(?_37034841)_(37042545_37045891)del - - - MLH1_000946 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1_3i c.(?_-198)_(306+1_307-1)del r.0? p.0? VUS g.(?_37034841)_(37042545_37045891)del - Deletion of Exon 1-3 - MLH1_000946 - PubMed: Spaepen 2006 - - Germline - - - 0 - Michael Woods
+/. _1_3i c.(?_-198)_(306+1_307-1)del r.0? p.0? pathogenic g.(?_37034841)_(37042545_37045891)del - Deletion of Exon 1-3 - MLH1_000946 - PubMed: Spaepen 2006 Genuardi (unpublished) - - Germline - - - 0 - Maurizio Genuardi
+/. _1_3i c.(?_-198)_(306+1_307-1)del r.0? p.0? pathogenic g.(?_37034841)_(37042545_37045891)del - (?-198)_306+?del/Del exon 1-3 - MLH1_000946 - - - - Germline - - - 0 - Thomas Hansen
+/. - c.(?_-198)_(306+1_307-1)del r.spl? p.? pathogenic g.(?_37034841)_(37042545_37045891)del - deletions of exons 1–3 - MLH1_000946 - - - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1-3 c.(?_-198)_(306+1_307-1)del r.? p.? 5 g.(?_37034841)_(37042545_37045891)del - c.1_306del - MLH1_000946 Insight class: 5 - - - Germline/De novo (untested) - - - 0 - Grigorij Yanus
+/+ _1_4i c.(?_-198)_(380+1_381-1)del r.0? p.0? InSiGHT: 5 g.(?_37034841)_(37045966_37048481)del - - - MLH1_001570 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1_4i c.(?_-198)_(380+1_381-1)del r.0? p.0? VUS 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 - INSiGHT group
+/+ _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? InSiGHT: 5 g.(?_37034841)_(37050397_37053310)del - - - MLH1_001724 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? VUS g.(?_37034841)_(37050397_37053310)del - Deletion of Exon 1-6 - MLH1_001724 - PubMed: Taylor 2003 - - Germline - - - 0 - Michael Woods
?/. _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? VUS g.(?_37034841)_(37050397_37053310)del - MLH1 exon 1-6 del phase unknown - MLH1_001724 - - - - Germline - - - 0 - Mark Jenkins
?/. _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? VUS 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 - INSiGHT group
?/. _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? VUS 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 - INSiGHT group
?/. _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? VUS g.(?_37034841)_(37050397_37053310)del - - - MLH1_001724 MLH1:c.1569G>T; MLH1:c.(?_-198)_545+?del (in cis) Mark Jenkins - - Germline - - - 0 - INSiGHT group
+/+ _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? InSiGHT: 5 g.(?_37034841)_(37059091_37061800)del - - - MLH1_000949 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? pathogenic g.(?_37034841)_(37059091_37061800)del - Deletion E1-10 - MLH1_000949 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
+/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? pathogenic g.(?_37034841)_(37059091_37061800)del - Deletion E1-10 - MLH1_000949 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
+/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? pathogenic g.(?_37034841)_(37059091_37061800)del - Deletion E1-10 - MLH1_000949 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
+/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? pathogenic g.(?_37034841)_(37059091_37061800)del - Deletion E1-10 - MLH1_000949 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
+/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? pathogenic g.(?_37034841)_(37059091_37061800)del - ex01_ex10del - MLH1_000949 - - - - Germline - - - 0 - Beate Dr. Betz
?/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? VUS g.(?_37034841)_(37059091_37061800)del - Deletion of Exon 1-10 - MLH1_000949 - PubMed: Wang 2002 - - Germline - - - 0 - Michael Woods
?/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? VUS g.(?_37034841)_(37059091_37061800)del - Deletion of Exon 1-10 - MLH1_000949 - PubMed: Wang 2003 - - Germline - - - 0 - Michael Woods
?/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? VUS g.(?_37034841)_(37059091_37061800)del - Deletion of Exon 1-10 - MLH1_000949 - PubMed: Grabowski 2005 - - Germline - - - 0 - Michael Woods
?/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? VUS g.(?_37034841)_(37059091_37061800)del - Deletion of Exon 1-10 - MLH1_000949 - PubMed: Mangold 2005 - - Germline - - - 0 - Michael Woods
?/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? VUS g.(?_37034841)_(37059091_37061800)del - Deletion of Exon 1-10 - MLH1_000949 - PubMed: Mangold 2005 - - Germline - - - 0 - Michael Woods
+/+ _1_11i c.(?_-198)_(1038+1_1039-1)del r.0? p.0? InSiGHT: 5 g.(?_37034841)_(37061955_37067127)del - - - MLH1_001667 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1_11i c.(?_-198)_(1038+1_1039-1)del r.0? p.0? VUS g.(?_37034841)_(37061955_37067127)del - Exon 1 to Exon 11 (1-?_1038+?del) - MLH1_001667 - Desiree du Sart - - Germline - - - 0 - INSiGHT group
+/+ _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? InSiGHT: 5 g.(?_37034841)_(37070424_37081676)del - - - MLH1_000013 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS g.(?_37034841)_(37070424_37081676)del - Deletion of Exon 1-13 - MLH1_000013 - PubMed: Wagner 2003 - - Germline - - - 0 - Michael Woods
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS g.(?_37034841)_(37070424_37081676)del - del Ex1-13 - MLH1_000013 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS g.(?_37034841)_(37070424_37081676)del - Deletion of Exon 1-13 - MLH1_000013 - PubMed: Baudhuin 2005 - - Germline - - - 0 - Michael Woods
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS g.(?_37034841)_(37070424_37081676)del - Deletion of Exon 1-13 - MLH1_000013 - PubMed: Vaughn 2008 - - Germline - - - 0 - Michael Woods
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS 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 - INSiGHT group
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS g.(?_37034841)_(37070424_37081676)del - (?_-198)_1558+?del - MLH1_000013 - Robert HaileTherese Teitsch - - Germline - - - 0 - INSiGHT group
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS g.(?_37034841)_(37070424_37081676)del - (?_-198)_1558+?del - MLH1_000013 - Robert HaileTherese Teitsch - - Germline - - - 0 - INSiGHT group
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS g.(?_37034841)_(37070424_37081676)del - (?_-198)_1558+?del - MLH1_000013 - Polly Newcomb and John Potter - - Germline - - - 0 - INSiGHT group
+/+ _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? InSiGHT: 5 g.(?_37034841)_(37083823_37089009)del - - - MLH1_001614 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? VUS g.(?_37034841)_(37083823_37089009)del - Deletion of Exon 1-15 - MLH1_001614 - PubMed: Pistorius 2007 - - Germline - - - 0 - Michael Woods
?/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? VUS g.(?_37034841)_(37083823_37089009)del - Deletion of Exon 1-15 - MLH1_001614 - PubMed: Nilbert 2002 - - Germline - - - 0 - Michael Woods
?/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? VUS g.(?_37034841)_(37083823_37089009)del - Deletion of Exon 1-15 - MLH1_001614 - PubMed: Mangold 2005 - - Germline - - - 0 - Michael Woods
?/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? VUS g.(?_37034841)_(37083823_37089009)del - Deletion of Exon 1-15 - MLH1_001614 - PubMed: Lagerstedt Robinson 2007 - - Germline - - - 0 - Michael Woods
?/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? VUS g.(?_37034841)_(37083823_37089009)del - Deletion of Exon 1-15 - MLH1_001614 - PubMed: Staaf 2008 - - Germline - - - 0 - Michael Woods
+/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? pathogenic g.(?_37034841)_(37083823_37089009)del - del ex1-15 - MLH1_001614 - - - - Germline - - - 0 - Kristina Lagerstedt Robinson
?/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? VUS g.(?_37034841)_(37083823_37089009)del - (?_-198)_1731+?del - MLH1_001614 - Kristina Lagerstedt Robinson,PubMed: Lagerstedt Robinson 2007,PubMed: Nilbert 2002 - - Germline - - - 0 - INSiGHT group
+/+ _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? InSiGHT: 5 g.(?_37034841)_(37092337_?)del - - - MLH1_001571 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? pathogenic g.(?_37034841)_(37092337_?)del - - - MLH1_001571 part or all of the MLH1 gene missing PubMed: Zidan 2007 - - Germline - - - 0 - Michael Woods
?/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? VUS g.(?_37034841)_(37092337_?)del - del Ex1-19, >57kb - MLH1_001571 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
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