Full data view for gene MLH1


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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

78 entries on 1 page. Showing entries 1 - 78.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.793C>T r.(?) p.(Arg265Cys) Unknown - pathogenic g.37058999C>T g.37017508C>T MLH1(NM_000249.3):c.793C>T (p.R265C), MLH1(NM_000249.4):c.793C>T (p.R265C) - MLH1_000363 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.793C>T r.(?) p.(Arg265Cys) Unknown InSiGHT pathogenic g.37058999C>T g.37017508C>T - - MLH1_000363 Insight class: 5 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.793C>T r.(?) p.(Arg265Cys) Unknown - pathogenic g.37058999C>T g.37017508C>T - - MLH1_000363 in two patients with same variant: variant causes 100% splice defect (exon 10 skipping oof in cDNA with puromycine), monoallelic expression without puromycine due to NMD splice defect and promoter variant with unknown allelic distribution - - - Germline - - - - - DNA MLPA, SEQ - - CRC - - maternal aunt 62 y colon Ca F - Germany - - - - - 1 Elke Holinski-Feder
?/. 10 c.793C>T r.(?) p.(Arg265Cys) Unknown - VUS g.37058999C>T g.37017508C>T 793C>T - MLH1_000363 - PubMed: Drost 2010 - - Unknown - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T de Jong et al. describe this as codon 264 - MLH1_000363 Minigene test:out of frame skip exon 10, minor expression full length transcript ; no patient RNA available ({PMID26247049:Klift vd , 2015} PubMed: Hendriks 2003,PubMed: de Jong 2004,PubMed: Klift vd 2015 - - Germline - - - - - DNA, RNA SEQ - - ? - PubMed: Hendriks,Y. 2003, PubMed: de Jong,A.E. 2004 - ? - Netherlands - - - - - 1 Carli Tops
?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - VUS g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Sjursen 2010 - - Germline - - - - - DNA SEQ - - ? - - - ? - Norway - - - - - 1 Juul Wijnen
?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - VUS g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Hardt 2011 - - Germline - - - - - DNA SEQ - - ? - - CAPP2 study ? - Germany - - - - - 1 Juul Wijnen
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Hardt 2011 - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Hardt 2011 - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Hardt 2011 - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Parent #1 - pathogenic g.37058999C>T g.37017508C>T C>T at 793 - MLH1_000363 - British Columbia Cancer Agency (unpublished) - - Germline - - - - - DNA SEQ - - ? - - - ? - China - - - - - 1 INSiGHT group
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Parent #1 - pathogenic g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Wahlberg 1999 - - Germline - - - - - DNA SEQ - - ? - - - ? - Sweden - - - - - 1 INSiGHT group
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Parent #1 - pathogenic g.37058999C>T g.37017508C>T - - MLH1_000363 - P Hutter (unpublished) 1999 - - Germline - - - - - DNA SEQ - - ? - - - ? - Portugal - - - - - 1 INSiGHT group
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Parent #1 - pathogenic g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Wolf 2005 - - Germline - - - - - DNA SEQ - - ? - - - ? - Austria - - - - - 1 INSiGHT group
?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Parent #1 - VUS g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Hardt 2011 - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - ? - Germany - - - - - 1 Beate Dr. Betz
?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - benign g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - VUS g.37058999C>T g.37017508C>T - - MLH1_000363 Authors describe the in vitro functional analysis as showing conflicting results (normal function vs. MMR reduced efficiency). PubMed: Lucci-Cordisco 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - VUS g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Wahlberg 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - VUS g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Raschle 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - VUS g.37058999C>T g.37017508C>T Deletion of Exon 9-10 - MLH1_000363 - PubMed: Casey 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - VUS g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Halvarsson 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - VUS g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Mangold 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - VUS g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Lagerstedt Robinson 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - VUS g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Koehler 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - likely pathogenic g.37058999C>T g.37017508C>T - - MLH1_000363 Functional analysis using the pCAS ex vivo splicing assay demonstrated this variant resulted in weak partial Exon 10 skipping with a 60% exon exclusion. PubMed: Tournier 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - VUS g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Chao 2008 - - Germline - - - - - DNA SEQ - - ?, HNPCC (Lynch) - - geogr. origin: Austria, Portugal, Sweden and China, age of onset: 39;InSiGHT LOVDv2 ID:1005786; ? - - - - - - - 1 Rolf Sijmons
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Takahashi 2007 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Perera 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - VUS g.37058999C>T g.37017508C>T - - MLH1_000363 - Bapat, unpublished - - Germline - - - - - DNA SEQ - - ? - Mount Sinai Hospital - - - - - - - - - 1 Bharati Bapat
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Hardt 2011 - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Hardt 2011 - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Hardt 2011 - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - pathogenic g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Casey 2005 - - Germline - - - - - DNA ? - - CRC - - - - - Canada - - - - - 1 InSiGHT - John-Paul Plazzer
?/. 10 c.793C>T r.(?) p.(Arg265Cys) Unknown - VUS g.37058999C>T g.37017508C>T 793C>T - MLH1_000363 - Steve Gallinger - - Germline - - - - - DNA SEQ - - ? - - 2 families: segregation LR 3.12 & 2.46 - Choi 2009, [CCFR Ontario] - - - - - - - - 1 INSiGHT group
?/. 10 c.793C>T r.(?) p.Arg265Cys Unknown - VUS g.37058999C>T g.37017508C>T 793C>T - MLH1_000363 Cause complete skipping of exon 10, variant not detected in 109 control Chinese population Leung SY et al, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data - - Germline - - - - - DNA SEQ - - CRC - - - F - - - - - - - 1 INSiGHT group
?/. 10 c.793C>T r.(?) p.Arg265Cys Unknown - VUS g.37058999C>T g.37017508C>T 793C>T - MLH1_000363 Cause complete skipping of exon 10, variant not detected in 109 control Chinese population Yuen ST et al , Hereditary Gastrointestinal Cancer Genetic Diagnosis Laboratory, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data - - Germline - - - - - DNA SEQ - - CRC - - no family history M - - - - - - - 1 INSiGHT group
?/. 10 c.793C>T r.(?) p.(Arg265Cys) Unknown - VUS g.37058999C>T g.37017508C>T Exon 10 793C>T p.Arg265Cys UCV - MLH1_000363 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 10 c.793C>T r.(?) p.Arg265Cys Unknown - VUS g.37058999C>T g.37017508C>T 793C>T - MLH1_000363 - Liying Zhang - - Germline - - - - - DNA SEQ - - CRC - - BRAF V600E mutation status: n/a; BRAF testing method: ;InSiGHT LOVDv2 ID:1016887; M - - - - - - - 1 INSiGHT group
+/. 10 c.793C>T r.(791_884del) (major), WT (minor) p.(R265C) Unknown - pathogenic g.37058999C>T g.37017508C>T - - MLH1_000363 Unable to isolate RNA for testing, could not show effect on splicing. - - - Germline - - - - - RNA PCR FFPE Splicing Assay HNPCC (Lynch) - - - - - Netherlands - - - - - 1 Anne Jansen
+/. - c.793C>T r.(?) p.(His264Leufs*2) Unknown - pathogenic g.37058999C>T g.37017508C>T Aberrant splicing - MLH1_000363 - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/. - c.793C>T r.(?) p.(His264Leufs*2) Unknown - pathogenic g.37058999C>T g.37017508C>T Aberrant splicing - MLH1_000363 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/. - c.793C>T r.(?) p.(His264Leufs*2) Unknown - pathogenic g.37058999C>T g.37017508C>T Aberrant splicing - MLH1_000363 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/. - c.793C>T r.(?) p.(Arg265Cys) Unknown - pathogenic g.37058999C>T g.37017508C>T splicing variant - MLH1_000363 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. 10 c.793C>T r.(?) p.(Arg265Cys) Unknown - pathogenic g.37058999C>T g.37017508C>T - - MLH1_000363 ICCON data, Westmead, NSW - - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - NA g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Ellison 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - NA g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Perera 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - NA g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Perera 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - NA g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Perera 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - NA g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - NA g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Tournier 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - NA g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - NA g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - NA g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Lastella 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - NA g.37058999C>T g.37017508C>T - - MLH1_000363 Authors did not find p.Arg265Cys to abolish the MutLa-MutSa (MLH1-PMS2) interaction. PubMed: Plotz 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - NA g.37058999C>T g.37017508C>T - - MLH1_000363 Authors describe this as intermediate pathogenicity and as both showing association and not showing association with HNPCC. NOTE: Functional assay was done on the corresponding yeast allele R265C. PubMed: Wanat 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - NA g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Ellison 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - NA g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Trojan 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - NA g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Lastella 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - NA g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - NA g.37058999C>T g.37017508C>T - - MLH1_000363 Authors describe this variant as decreasing protein stability. PubMed: Perera 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 10 c.793C>T r.791_884del p.His264Leufs*2 Unknown - NA g.37058999C>T g.37017508C>T R265C - MLH1_000363 {GR:67} PubMed: Trojan 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.793C>T r.(?) p.(Arg265Cys) Unknown - NA g.37058999C>T g.37017508C>T R265C - MLH1_000363 - PubMed: Fan et al, 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.793C>T r.(?) p.(Arg265Cys) Unknown - pathogenic g.37058999C>T g.37017508C>T MLH1(NM_000249.3):c.793C>T (p.R265C), MLH1(NM_000249.4):c.793C>T (p.R265C) - MLH1_000363 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.793C>T r.(?) p.(Arg265Cys) Parent #1 - NA g.37058999C>T - chr3_37058999_C_T - MLH1_000363 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+?/. - c.793C>T r.(?) p.(Arg265Cys) Unknown - pathogenic g.37058999C>T g.37017508C>T - - MLH1_000363 - PubMed: Jiang 2022 - - Germline/De novo (untested) - 1/486 cases - - - DNA SEQ-NG - 81-gene panel cancer, colon 368587 PubMed: Jiang 2022 analysis 486 colorectal cancer patients F - China - - - - - 1 Johan den Dunnen
+?/. - c.793C>T r.(?) p.(Arg265Cys) Unknown - likely pathogenic g.37058999C>T - MLH1(NM_000249.3):c.793C>T (p.R265C), MLH1(NM_000249.4):c.793C>T (p.R265C) - MLH1_000363 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.793C>T r.(?) p.(Arg265Cys) Unknown - pathogenic g.37058999C>T g.37017508C>T - - MLH1_000363 - - - - Germline - - - - - DNA SEQ-NG - - MINAS - - - F - Singapore Chinese - - - - 1 Jeanette Yuen
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