Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587778966
rs587778966
0.720 GeneticVariation BEFREE Despite these molecular similarities, an unusual spectrum of tumours is associated with hMLH1-Gly67Glu, which is not typical of those associated with Lynch syndrome and differs from those found in families carrying the hMLH1-Gly67Arg allele. 19142183

2009

dbSNP: rs587778966
rs587778966
0.720 GeneticVariation BEFREE The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously identified polymorphisms (I219V and I219L) and two with confirmed hereditary nonpolyposis colorectal cancer (HNPCC) syndrome mutations (G224D and G67R). 16982745

2006

dbSNP: rs63750206
rs63750206
0.720 GeneticVariation BEFREE Despite these molecular similarities, an unusual spectrum of tumours is associated with hMLH1-Gly67Glu, which is not typical of those associated with Lynch syndrome and differs from those found in families carrying the hMLH1-Gly67Arg allele. 19142183

2009

dbSNP: rs63750206
rs63750206
0.720 GeneticVariation BEFREE The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously identified polymorphisms (I219V and I219L) and two with confirmed hereditary nonpolyposis colorectal cancer (HNPCC) syndrome mutations (G224D and G67R). 16982745

2006

dbSNP: rs63750217
rs63750217
0.720 GeneticVariation BEFREE Next to mutations c. 2041G>A in MLH1 gene and c.942+3A>T in MSH2, the deletion mutation encompassing EPCAM is one of the most common causative changes responsible for LS in Poland. 28369810

2017

dbSNP: rs63750217
rs63750217
0.720 GeneticVariation BEFREE Analysis of seven HNPCC-associated hMLH1 missense mutations located within the hMRE11-interacting domain shows that four mutations (L574P, K618T, R659P and A681T) cause near-complete disruption of the interaction between hMRE11 and hMLH1, and two mutations (Q542L and L582V) cause a 30% reduction of protein interaction. 15864295

2005

dbSNP: rs587778914
rs587778914
0.710 GeneticVariation BEFREE Q48P mutation in the hMLH1 gene associated with Lynch syndrome in three Hungarian families. 22395473

2012

dbSNP: rs587778937
rs587778937
0.710 GeneticVariation BEFREE Evidence from clinical, histological, immunohistochemical, and molecular genetic data suggests that MLH1 c.1664T>C (p.Leu555Pro) is likely to be the pathogenic cause of Lynch syndrome in this family. 23712482

2013

dbSNP: rs63749818
rs63749818
0.710 GeneticVariation BEFREE The novel nonsense germline point mutation c.392C>G in the codon 131 of MLH1(S131X) was identified as the underlying genetic cause of LS in three families. 23100212

2012

dbSNP: rs63749939
rs63749939
0.710 GeneticVariation BEFREE Despite these molecular similarities, an unusual spectrum of tumours is associated with hMLH1-Gly67Glu, which is not typical of those associated with Lynch syndrome and differs from those found in families carrying the hMLH1-Gly67Arg allele. 19142183

2009

dbSNP: rs63750211
rs63750211
0.710 GeneticVariation BEFREE We encountered a large Irish Lynch syndrome kindred that carries the c.544A>G (p.Arg182Gly) alteration in the MLH1 gene and we undertook to study the variant. 22773173

2012

dbSNP: rs63750693
rs63750693
0.710 GeneticVariation BEFREE The variants c.306+5G>A and c.1865T>A (p.Leu622His) of the DNA repair gene MLH1 occur frequently in Spanish Lynch syndrome families. 20858721

2010

dbSNP: rs63750710
rs63750710
0.710 GeneticVariation BEFREE Thus, the H329P mutation present in the germline can be considered as having an aetiological role in this HNPCC family. 9272156

1997

dbSNP: rs63750781
rs63750781
0.710 GeneticVariation BEFREE We report here novel HNPCC-hMLH1 mutant proteins (T117M, Q426X and 1813insA) in Danish HNPCC patients. 11429708

2001

dbSNP: rs63750899
rs63750899
0.710 GeneticVariation BEFREE Here, we describe a mutation, MLH1 P648S, which was found in a typical HNPCC family, with one homozygous child displaying mild features of NF1 and no hematological cancers. 15139004

2004

dbSNP: rs63751194
rs63751194
0.710 GeneticVariation BEFREE We recommend a screening strategy for the local LS by starting with tumor IHC and the hotspot mutation testing at MLH1 c.793C>T followed by comprehensive mutation scanning in MLH1 and MSH2 prior to proceeding to other MMR genes. 24710284

2014

dbSNP: rs63751608
rs63751608
0.710 GeneticVariation BEFREE Analysis of seven HNPCC-associated hMLH1 missense mutations located within the hMRE11-interacting domain shows that four mutations (L574P, K618T, R659P and A681T) cause near-complete disruption of the interaction between hMRE11 and hMLH1, and two mutations (Q542L and L582V) cause a 30% reduction of protein interaction. 15864295

2005

dbSNP: rs35502531
rs35502531
0.030 GeneticVariation BEFREE We conclude that MLH1 K618A is not a fully penetrant Lynch syndrome mutation, although it is not without effect, appearing to increase the risk of Lynch syndrome-associated tumors approximately twofold. 22426235

2012

dbSNP: rs35502531
rs35502531
0.030 GeneticVariation BEFREE The pathogenicity of the K618A and Y646C mutations was questionable as their correlation with features typical of HNPCC was low and the outcome of the functional analysis was ambiguous. 16724012

2006

dbSNP: rs35502531
rs35502531
0.030 GeneticVariation BEFREE The p.Lys618Ala variant should be considered a neutral variant for LS. 21247423

2011

dbSNP: rs1418586322
rs1418586322
0.020 GeneticVariation BEFREE Although rare in the general population, the A636P mutation is detected in up to 7% of Ashkenazi Jewish patients with early age-of-onset colorectal cancer, and may account for up to one third of HNPCC in the Ashkenazi Jewish population. 15516845

2004

dbSNP: rs1418586322
rs1418586322
0.020 GeneticVariation BEFREE Although rare in the general population, A636P mutations are found at increased frequency in Ashkenazim with a personal or family history of colorectal or other HNPCC-associated cancers. 17414604

2007

dbSNP: rs1799977
rs1799977
0.020 GeneticVariation BEFREE The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously identified polymorphisms (I219V and I219L) and two with confirmed hereditary nonpolyposis colorectal cancer (HNPCC) syndrome mutations (G224D and G67R). 16982745

2006

dbSNP: rs1799977
rs1799977
0.020 GeneticVariation BEFREE To evaluate the mutL homolog 1 (MLH1) I219V polymorphism in 124 unrelated South American individuals suspected of having Lynch syndrome, based on frequency, association with pathogenic MLH1 and mutS homolog 2 (MSH2) mutation and clinical features. 23060557

2012

dbSNP: rs63751713
rs63751713
0.020 GeneticVariation BEFREE Analysis of seven HNPCC-associated hMLH1 missense mutations located within the hMRE11-interacting domain shows that four mutations (L574P, K618T, R659P and A681T) cause near-complete disruption of the interaction between hMRE11 and hMLH1, and two mutations (Q542L and L582V) cause a 30% reduction of protein interaction. 15864295

2005