Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749993
rs63749993
0.730 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs63749993
rs63749993
0.730 GeneticVariation BEFREE The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative. 22739024

2012

dbSNP: rs63749993
rs63749993
0.730 CausalMutation CLINVAR Classification of mismatch repair gene missense variants with PON-MMR. 22290698

2012

dbSNP: rs63749993
rs63749993
0.730 CausalMutation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990

2011

dbSNP: rs63749993
rs63749993
0.730 CausalMutation CLINVAR Adrenocortical carcinoma, an unusual extracolonic tumor associated with Lynch II syndrome. 21225464

2011

dbSNP: rs63749993
rs63749993
0.730 GeneticVariation BEFREE Here we describe a patient from a Lynch syndrome family with a germline mutation c.2063T>G (p.M688R) in the MSH2 gene, who developed an adrenal cortical carcinoma, a tumor not usually associated with LS. 21225464

2011

dbSNP: rs63749993
rs63749993
0.730 GeneticVariation BEFREE We herein describe a nucleotide change, c.2063T>G in exon 13 of the MSH2 gene, present in families that fulfill the Amsterdam criteria for Lynch syndrome and originate from northern Tenerife (Canary Islands-Spain). 16500024

2007

dbSNP: rs63749993
rs63749993
0.730 CausalMutation CLINVAR Reduction in hMSH2 mRNA levels by premature translation termination: implications for mutation screening in hereditary nonpolyposis colorectal cancer. 10080150

1999