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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

71 entries on 1 page. Showing entries 1 - 71.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 8 c.677G>A r.(?) p.(Arg226Gln) Unknown - pathogenic g.37053590G>A g.37012099G>A - - MLH1_001558 - PubMed: Scheenstra 2003 - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Scheenstra 2003 - M - (Netherlands) - - - - - 1 James Whitworth
+/. - c.677G>A r.(?) p.(Arg226Gln) Unknown - pathogenic g.37053590G>A g.37012099G>A MLH1(NM_000249.3):c.677G>A (p.(Arg226Gln)), MLH1(NM_001167617.3):c.383G>A (p.R128Q) - MLH1_001558 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown InSiGHT pathogenic g.37053590G>A g.37012099G>A - - MLH1_001558 Insight class: 5 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.677G>A r.(?) p.(Arg226Gln) Unknown - pathogenic g.37053590G>A g.37012099G>A - - MLH1_001558 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A - - MLH1_001558 Aberrant Splicing PubMed: Sheng 2006,PubMed: Sheng 2009 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A - - MLH1_001558 Aberrant Splicing PubMed: Wijnen 1996,PubMed: Wijnen 1997,PubMed: Hendriks 2003 - - Germline - - - - - DNA SEQ - - ? - PubMed: Wijnen,J. 1996, PubMed: Wijnen,J. ,1997, PubMed: Hendriks,Y. 2003 - ? - Netherlands - - - - - 1 Juul Wijnen
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A reported patient C56, MSS, was not tested for this mutation segregating in the family - MLH1_001558 Aberrant Splicing PubMed: de Jong 2004 - - Germline - - - - - DNA SEQ - - ? - PubMed: de Jong,A.E. 2004 - ? - Netherlands - - - - - 1 Carli Tops
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A - - MLH1_001558 - - - - Germline - - - - - DNA SEQ - - ? - - - ? - Netherlands - - - - - 1 Juul Wijnen
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A - - MLH1_001558 - PubMed: de Jong 2004 - - Germline - - - - - DNA SEQ - - ? - - - ? - Netherlands - - - - - 1 Carli Tops
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A - - MLH1_001558 - - - - Germline - - - - - DNA SEQ - - ? - - - ? - Netherlands - - - - - 1 Carli Tops
+/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - pathogenic g.37053590G>A g.37012099G>A - - MLH1_001558 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - pathogenic g.37053590G>A g.37012099G>A - - MLH1_001558 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Parent #1 - pathogenic g.37053590G>A g.37012099G>A G --> A at 677 - MLH1_001558 - PubMed: Wijnen 1996 - - Germline - - - - - DNA SEQ - - ? - - - ? - Netherlands - - - - - 1 INSiGHT group
+/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Parent #1 - pathogenic g.37053590G>A g.37012099G>A G>A at 677 - MLH1_001558 - Deffenbaugh (unpublished) - - Germline - - - - - DNA SEQ - - ? - - - ? - - Central/Eastern Europe - - - - 1 INSiGHT group
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A R226Q - MLH1_001558 {GR:332} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - pathogenic g.37053590G>A g.37012099G>A R226Q - MLH1_001558 {GR:332} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - benign g.37053590G>A g.37012099G>A R226Q - MLH1_001558 {GR:332} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - pathogenic g.37053590G>A g.37012099G>A R226Q - MLH1_001558 {GR:332} PubMed: Lastella 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - pathogenic g.37053590G>A g.37012099G>A R226Q - MLH1_001558 {GR:332} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - benign g.37053590G>A g.37012099G>A R226Q - MLH1_001558 {GR:332} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - pathogenic g.37053590G>A g.37012099G>A R226Q - MLH1_001558 {GR:332} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - pathogenic g.37053590G>A g.37012099G>A R226Q - MLH1_001558 {GR:332} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - pathogenic g.37053590G>A g.37012099G>A R226Q - MLH1_001558 {GR:332} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A - - MLH1_001558 - PubMed: Lucci-Cordisco 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A - - MLH1_001558 Aberrant Splicing PubMed: Leung 1998 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A - - MLH1_001558 - PubMed: Syngal 1999,PubMed: Mueller 2009 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A - - MLH1_001558 - PubMed: Otway 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A - - MLH1_001558 Somatic PubMed: Cunningham 2001 - - Somatic - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A - - MLH1_001558 Aberrant Splicing PubMed: Wahlberg 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A - - MLH1_001558 - PubMed: Gille 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A - - MLH1_001558 Aberrant Splicing PubMed: Scheenstra 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A - - MLH1_001558 - PubMed: Liu 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A Deletion of Exon 8 - MLH1_001558 - PubMed: Sharp 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A Deletion of Exon 8 - MLH1_001558 - PubMed: Pagenstecher 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A - - MLH1_001558 - PubMed: Oda 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A - - MLH1_001558 Aberrant Splicing PubMed: Spaepen 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A Deletion of Exon 8 - MLH1_001558 Aberrant Splicing PubMed: Spaepen 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A Deletion of Exon 8 - MLH1_001558 Aberrant Splicing PubMed: Overbeek 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - likely pathogenic g.37053590G>A g.37012099G>A - - MLH1_001558 - PubMed: Papp 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A - - MLH1_001558 - PubMed: Shen 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - likely pathogenic g.37053590G>A g.37012099G>A - - MLH1_001558 Deletion of Exon 8; Functional analysis using the pCAS ex vivo splicing assay demonstrated this variant resulted in the skipping of exon 8. PubMed: Tournier 2008,PubMed: Parc 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A - - MLH1_001558 This individual also had an alteration in the KRAS gene (GGT>GAT). PubMed: Zhao 2008 - - Germline - - - - - DNA ? - - CRC - - - ? - - - - - - - 1 Michael Woods
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - pathogenic g.37053590G>A g.37012099G>A R226Q - MLH1_001558 {GR:332} PubMed: Chao 2008 - - Germline - - - - - DNA SEQ - - ?, HNPCC (Lynch) - - - ? - - - - - - - 1 Rolf Sijmons
-/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - pathogenic g.37053590G>A g.37012099G>A R226Q - MLH1_001558 {GR:332} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - pathogenic g.37053590G>A g.37012099G>A R226Q - MLH1_001558 {GR:332} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - pathogenic g.37053590G>A g.37012099G>A R226Q - MLH1_001558 {GR:332} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - pathogenic g.37053590G>A g.37012099G>A R226Q - MLH1_001558 {GR:332} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - benign g.37053590G>A g.37012099G>A R226Q - MLH1_001558 {GR:332} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - pathogenic g.37053590G>A g.37012099G>A - - MLH1_001558 - - - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A - - MLH1_001558 - Deffenbaugh (unpublished) - - Germline - - - - - DNA SEQ - - ?, HNPCC (Lynch) - - - - - Brazil - - - - - 1 Mev Dominguez Valentin
?/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - VUS g.37053590G>A g.37012099G>A - - MLH1_001558 - Deffenbaugh (unpublished) - - Germline - - - - - DNA SEQ - - ?, HNPCC (Lynch) - - - - - Argentina - - - - - 1 Mev Dominguez Valentin
+/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - pathogenic g.37053590G>A g.37012099G>A G>A at 677 - MLH1_001558 - Deffenbaugh (unpublished), Genuardi (unpublished) - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - M - Italy white - - additional info and pedigree - 1 Maurizio Genuardi
+/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - pathogenic g.37053590G>A g.37012099G>A G>A at 677 - MLH1_001558 - Deffenbaugh (unpublished), Genuardi (unpublished) - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - F - Italy white - - additional info and pedigree - 1 Maurizio Genuardi
?/. 8 c.677G>A r.(?) p.Gln197ArgfsX8 Unknown - VUS g.37053590G>A g.37012099G>A 677G>A - MLH1_001558 Variant Allele: Maternal Inferred José Luis Soto - - Germline - - - - - DNA SEQ - - CRC - - - F - - - - - - - 1 INSiGHT group
?/. 8 c.677G>A r.(?) p.Arg226Gln Unknown - VUS g.37053590G>A g.37012099G>A 677G>A - MLH1_001558 Cause complete skipping of exon 8 Leung SY et al, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data - - Germline - - - - - DNA SEQ - - cancer, rectal - - - M - - - - - - - 1 INSiGHT group
?/. 8 c.677G>A r.(?) p.Arg226Gln Unknown - VUS g.37053590G>A g.37012099G>A 677G>A - MLH1_001558 Cause complete skipping of exon 8 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
?/. 8 c.677G>A r.(?) p.Arg226Gln Unknown - VUS g.37053590G>A g.37012099G>A 677G>A - MLH1_001558 Cause complete skipping of exon 8 Leung SY et al, 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
?/. 8 c.677G>A r.(?) p.Arg226Gln Unknown - VUS g.37053590G>A g.37012099G>A 677G>A - MLH1_001558 - Maurizio Genuardi - - Germline - - - - - DNA SEQ - - CRC - - Last known age healthy/unknown disease: 57;InSiGHT LOVDv2 ID:1016689; M - - - - - - - 1 INSiGHT group
?/. 8 c.677G>A r.(?) p.Arg226Gln Unknown - VUS g.37053590G>A g.37012099G>A 677G>A - MLH1_001558 - Maurizio Genuardi - - Germline - - - - - DNA SEQ - - ? - - Last known age healthy/unknown disease: 35;InSiGHT LOVDv2 ID:1016690; M - - - - - - - 1 INSiGHT group
?/. 8 c.677G>A r.(?) p.Arg226Gln (sd exon 8) Unknown - VUS g.37053590G>A g.37012099G>A 677G>A - MLH1_001558 - Mensenkamp and Ligtenberg - - Germline - - - - - DNA SEQ - - CRC - - MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016822; F - - - - - - - 1 INSiGHT group
?/. 8 c.677G>A r.(?) p.Arg226Gln Unknown - VUS g.37053590G>A g.37012099G>A 677G>A - MLH1_001558 - Mensenkamp and Ligtenberg - - Germline - - - - - DNA SEQ - - CRC - - MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016833; F - - - - - - - 1 INSiGHT group
?/. 8 c.677G>A r.(?) p.Arg226Gln Unknown - VUS g.37053590G>A g.37012099G>A 677G>A - MLH1_001558 - Mensenkamp and Ligtenberg - - Germline - - - - - DNA SEQ - - CRC - - MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016836; M - - - - - - - 1 INSiGHT group
+/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Paternal (inferred) - pathogenic g.37053590G>A g.37012099G>A - - MLH1_001558 - - - - Germline - - - - - DNA SEQ - - CRC - - - F - Spain - - - - - 1 José Luis Soto
+/. 8 c.677G>A r.(?) p.(Arg226Gln) Unknown - pathogenic g.37053590G>A g.37012099G>A - - MLH1_001558 - PubMed: Lee 2017 - - Germline - - - - - DNA ? - - CRC - PubMed: Lee 2017 Father colon cancer at age 35. Bethesda criteria met: Yes #1, #4 - - - Asian - - - - 1 InSiGHT - John-Paul Plazzer
+/. 8 c.677G>A r.(?) p.Gln197Argfs*8 Unknown - pathogenic g.37053590G>A g.37012099G>A 677G>A - MLH1_001558 WT MaxEntScan score: 9.22; Variant MaxEntScan score: 5; Difference in MaxEntScan score between variant and WT (%): -46 InSiGHT, PubMed: Rossi 2017 - - Germline - - - - - DNA ? - - ? - InSiGHT, PubMed: Rossi 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America - - Argentina;Brazil - - - - - 2 Mev Dominguez Valentin
+/. - c.677G>A r.(?) p.(Gln197Argfs*8) Unknown - pathogenic g.37053590G>A g.37012099G>A Aberrant splicing - MLH1_001558 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/. 8 c.677G>A r.589_677del p.Gln197Argfs*8 Unknown - NA g.37053590G>A g.37012099G>A R226Q - MLH1_001558 {GR:332} PubMed: Tournier 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.677G>A r.(?) p.(Arg226Gln) Unknown - NA g.37053590G>A g.37012099G>A - - MLH1_001558 affected splicing (Fig 1A and 1B, S1 Table) in an in vivo minigene assay and in an in vitro splicing assay. ESR wt/mt difference:-2.5404582. Significant in MaPSy PubMed: Rhine 2018 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.677G>A r.(?) p.(Arg226Gln) Unknown - pathogenic g.37053590G>A g.37012099G>A - - MLH1_001558 - - - - Germline - - - - - DNA SEQ-NG-IT blood and tissue - CRC 478431 - - F no Brazil - - - - surgery and quimoterapy 1 Celia Aparecida Marques Pimenta
+/. - c.677G>A r.(?) p.(Arg226Gln) Unknown - pathogenic g.37053590G>A - MLH1(NM_000249.3):c.677G>A (p.(Arg226Gln)), MLH1(NM_001167617.3):c.383G>A (p.R128Q) - MLH1_001558 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.677G>A r.(?) p.(Arg226Gln) Unknown - pathogenic g.37053590G>A - MLH1(NM_000249.3):c.677G>A (p.(Arg226Gln)), MLH1(NM_001167617.3):c.383G>A (p.R128Q) - MLH1_001558 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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