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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

15 entries on 1 page. Showing entries 1 - 15.
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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.-28A>G r.(?) p.(=) InSiGHT VUS g.37035011A>G g.36993520A>G - - MLH1_000936 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/. 1 c.-28A>G r.(?) p.(=) - likely benign g.37035011A>G g.36993520A>G MLH1 c.-28A>G biallelic in cDNA - MLH1_000936 - - - - Germline - - - 0 - Elke Holinski-Feder
-?/. 1 c.-28A>G r.(?) p.(=) - likely benign g.37035011A>G g.36993520A>G MLH1 c.[-28A>G;-7C>T] in 5`UTR - MLH1_000936 MLH1 c.[-28A>G;-7C>T] biallelic in cDNA, EPM2AIP1 3`UTR c.1824*2570G>T biallelic - - - Germline no - - 0 - Elke Holinski-Feder
-?/. 1 c.-28A>G r.(?) p.(=) - likely benign g.37035011A>G g.36993520A>G - - MLH1_000936 MLH1 c.[-28A>G;-7C>T] in 5`UTR - - - Germline ? - - 0 - Elke Holinski-Feder
-?/. 1 c.-28A>G r.(?) p.(=) - likely benign g.37035011A>G g.36993520A>G - - MLH1_000936 MLH1 c.[-28A>G;-7C>T] in 5`UTR - - - Germline - - - 0 - Elke Holinski-Feder
?/. 1 c.-28A>G r.(?) p.(=) - VUS g.37035011A>G g.36993520A>G - - MLH1_000936 - PubMed: Muller-Koch 2001 - - Germline - - - 0 - Michael Woods
?/. 1 c.-28A>G r.(?) p.(=) - VUS g.37035011A>G g.36993520A>G - - MLH1_000936 - PubMed: Lee 2005 - - Germline - - - 0 - Michael Woods
?/. 1 c.-28A>G r.(?) p.(=) - VUS g.37035011A>G g.36993520A>G - - MLH1_000936 - PubMed: Fredriksson 2006 - - Germline - - - 0 - Michael Woods
?/. 1 c.-28A>G r.(?) p.(=) - VUS g.37035011A>G g.36993520A>G - - MLH1_000936 - PubMed: Yap 2009 - - Germline - - - 0 - Michael Woods
?/. 1 c.-28A>G r.(?) p.(=) - VUS g.37035011A>G g.36993520A>G - - MLH1_000936 - PubMed: Nilbert 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-28A>G r.(?) p.(=) - VUS g.37035011A>G g.36993520A>G - - MLH1_000936 MLH1:c.-7C>T and MLH1 c.-28A>G Adrienne Sexton, Kirsty Mann,Desiree du Sart - - Germline - - - 0 - INSiGHT group
?/. 1 c.-28A>G r.(?) p.(=) - VUS g.37035011A>G g.36993520A>G - - MLH1_000936 - - - - Germline - - - 0 - Luke Hesson
?/. 1 c.-28A>G r.(?) p.(=) - VUS g.37035011A>G g.36993520A>G -28A>G - MLH1_000936 - - - - Germline - - - 0 - Thomas Hansen
?/. 1 c.-28A>G r.(?) p.(=) - VUS g.37035011A>G g.36993520A>G -28A>G - MLH1_000936 - - - - Germline - - - 0 - Thomas Hansen
?/. - c.-28A>G r.(?) p.(=) - VUS g.37035011A>G - MLH1(NM_000249.3):c.-28A>G - MLH1_000936 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
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