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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

15 entries on 1 page. Showing entries 1 - 15.
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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     
+/. _1_19_ c._-198_*193{0}  r.0? p.0? Unknown ACMG pathogenic g.(?_37034841)_(37092337_?)del g.(?_36993350)_(37050846_?)del - - MLH1_001571 - - - - Germline - - - 0 - DNA SEQ-NG blood - cancer, pancreatic - - - F - Belgium - - 0 - - 1 Kathleen Claes
+/+ _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? Unknown InSiGHT pathogenic g.(?_37034841)_(37092337_?)del - - - MLH1_001571 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? Parent #1 - pathogenic 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? Unknown - VUS 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
?/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? Unknown - VUS g.(?_37034841)_(37092337_?)del - Deletion of MLH1 - MLH1_001571 - PubMed: Salahshor 2001 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? Unknown - VUS g.(?_37034841)_(37092337_?)del - Deletion of MLH1 - MLH1_001571 - PubMed: Gille 2002 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? Unknown - VUS g.(?_37034841)_(37092337_?)del - Deletion of MLH1 - MLH1_001571 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? Unknown - VUS g.(?_37034841)_(37092337_?)del - Deletion of Exon 1-19 - MLH1_001571 - PubMed: Di Fiore 2004 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? Paternal (confirmed) - 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 - DNA MLPA - - HNPCC - - - F - Italy white - 0 additional info and pedigree - 1 Maurizio Genuardi
?/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? Unknown - VUS g.(?_37034841)_(37092337_?)del - 1-?_2271+?del (Del ex01-19) - MLH1_001571 - José Luis Soto - - Germline - - - 0 - DNA MLPA - - CRC - - BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013553; M - - - - 0 - - 1 INSiGHT group
?/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? Unknown - 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 - DNA MLPA, arrayCGH - - CRC - - MLH1 Methylation: Negative; Method: MS-MLPA;InSiGHT LOVDv2 ID:1013554; M - - - - 0 - - 1 INSiGHT group
+/. - c.(?_-198)_(*193_?)del r.(?) p.? Unknown - 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 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-198)_(*193_?)del r.(?) p.? Unknown - 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 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-198)_(*193_?)del r.(?) p.? Unknown - 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 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? Unknown - pathogenic g.(?_37034841)_(37092337_?)del - 1-?_2271+?del - MLH1_001571 ICCON data, Westmead, NSW - - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
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