Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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G | 0.730 | CausalMutation | CLINVAR | Classification of mismatch repair gene missense variants with PON-MMR. | 22290698 | 2012 |
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0.730 | GeneticVariation | BEFREE | The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative. | 22739024 | 2012 |
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G | 0.730 | CausalMutation | CLINVAR | The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative. | 22739024 | 2012 |
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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 |
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|
G | 0.730 | CausalMutation | CLINVAR | Integrated analysis of unclassified variants in mismatch repair genes. | 21239990 | 2011 |
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G | 0.730 | CausalMutation | CLINVAR | 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 |
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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 | 2006 |
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G | 0.730 | CausalMutation | CLINVAR | 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 | 2006 |
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G | 0.730 | CausalMutation | CLINVAR | Reduction in hMSH2 mRNA levels by premature translation termination: implications for mutation screening in hereditary nonpolyposis colorectal cancer. | 10080150 | 1999 |