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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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 c.-269C>G r.(=) p.(=) InSiGHT likely benign g.37034770C>G g.36993279C>G - - MLH1_000002 Insight class: 2 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-269C>G r.(=) p.(=) - VUS g.37034770C>G g.36993279C>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 g.36993279C>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 g.36993279C>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 g.36993279C>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 g.36993279C>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 g.36993279C>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 g.36993279C>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 g.36993279C>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 g.36993279C>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 g.36993279C>G -269C>G - MLH1_000002 - PubMed: Zavodna 2006 - - Germline - ? - 0 - INSiGHT group
?/. _1 c.-269C>G r.= p.= - VUS g.37034770C>G g.36993279C>G -269C>G - MLH1_000002 - PubMed: Zavodna 2006 - - Germline - ? - 0 - INSiGHT group
?/. _1 c.-269C>G r.= p.= - VUS g.37034770C>G g.36993279C>G -269C>G - MLH1_000002 - PubMed: Zavodna 2006 - - Germline - ? - 0 - INSiGHT group
?/. _1 c.-269C>G r.(=) p.(=) - VUS g.37034770C>G g.36993279C>G - - MLH1_000002 - PubMed: Pinto 2017 - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
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