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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

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_19_ c.(?_-198)_(*193_?)del r.0? p.0? InSiGHT pathogenic 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
?/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? - VUS g.(?_37034841)_(37092337_?)del - Deletion of MLH1 - MLH1_001571 - PubMed: Salahshor 2001 - - Germline - - - 0 - Michael Woods
?/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? - VUS g.(?_37034841)_(37092337_?)del - Deletion of MLH1 - MLH1_001571 - PubMed: Gille 2002 - - Germline - - - 0 - Michael Woods
?/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? - VUS g.(?_37034841)_(37092337_?)del - Deletion of MLH1 - MLH1_001571 - PubMed: van der Klift 2005 - - Germline - - - 0 - Michael Woods
?/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? - VUS g.(?_37034841)_(37092337_?)del - Deletion of Exon 1-19 - MLH1_001571 - PubMed: Di Fiore 2004 - - Germline - - - 0 - Michael Woods
+/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? - pathogenic g.(?_37034841)_(37092337_?)del - - - MLH1_001571 c.1668-19A>G + c.(?_-373)_(108+?)del this variant segregates with phenotype in 1 family member Maurizio Genuardi - - Germline - - - 0 - Maurizio Genuardi
?/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? - VUS g.(?_37034841)_(37092337_?)del - 1-?_2271+?del (Del ex01-19) - MLH1_001571 - José Luis Soto - - Germline - - - 0 - INSiGHT group
?/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? - VUS g.(?_37034841)_(37092337_?)del - 1-?_2271+?del (Del ex01-19 (123 Kb del)) - MLH1_001571 Variant Allele: Maternal Inferred José Luis Soto - - Germline - - - 0 - INSiGHT group
+/. - c.(?_-198)_(*193_?)del r.(?) p.? - pathogenic g.37034841_37092337del - 1-?_2271+?del Whole gene deletion - MLH1_001571 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-198)_(*193_?)del r.(?) p.? - pathogenic g.37034841_37092337del - 1-?_2271+?del Whole gene deletion - MLH1_001571 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-198)_(*193_?)del r.(?) p.? - pathogenic g.37034841_37092337del - 1-?_2271+?del Whole gene deletion - MLH1_001571 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? - pathogenic g.(?_37034841)_(37092337_?)del - 1-?_2271+?del - MLH1_001571 ICCON data, Westmead, NSW - - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
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