Source: UNIPROT ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.700 | GeneticVariation | UNIPROT | Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. | 27854360 | 2017 |
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0.700 | GeneticVariation | UNIPROT | ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. | 25356965 | 2015 |
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0.700 | GeneticVariation | UNIPROT | ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. | 25645574 | 2015 |
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0.700 | GeneticVariation | UNIPROT | Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. | 25452455 | 2015 |
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0.700 | GeneticVariation | UNIPROT | Lynch Syndrome: A Primer for Urologists and Panel Recommendations. | 25711197 | 2015 |
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0.700 | GeneticVariation | UNIPROT | ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). | 24310308 | 2014 |
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0.700 | GeneticVariation | UNIPROT | American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. | 24493721 | 2014 |
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0.700 | GeneticVariation | UNIPROT | Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer. | 25003300 | 2014 |
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0.700 | GeneticVariation | UNIPROT | Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. | 25070057 | 2014 |
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0.700 | GeneticVariation | UNIPROT | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. | 23788249 | 2013 |
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0.700 | GeneticVariation | UNIPROT | Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. | 23535968 | 2013 |
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0.700 | GeneticVariation | UNIPROT | Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. | 23408351 | 2013 |
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0.700 | GeneticVariation | UNIPROT | A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. | 22102614 | 2012 |
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0.700 | GeneticVariation | UNIPROT | Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. | 21120944 | 2011 |
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0.700 | GeneticVariation | UNIPROT | Functional analysis of HNPCC-related missense mutations in MSH2. | 18822302 | 2008 |
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0.700 | GeneticVariation | UNIPROT | A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. | 18561205 | 2008 |
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0.700 | GeneticVariation | UNIPROT | MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. | 18781619 | 2008 |
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0.700 | GeneticVariation | UNIPROT | Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). | 16451135 | 2006 |
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0.700 | GeneticVariation | UNIPROT | Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes. | 15870828 | 2005 |
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0.700 | GeneticVariation | UNIPROT | A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy. | 15896463 | 2005 |
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0.700 | GeneticVariation | UNIPROT | Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. | 15604628 | 2004 |
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0.700 | GeneticVariation | UNIPROT | Gene symbol: hMSH2. Disease: Hereditary nonpolyposis colorectal cancer. | 15046096 | 2004 |
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0.700 | GeneticVariation | UNIPROT | Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. | 12658575 | 2003 |
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0.700 | GeneticVariation | UNIPROT | HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. | 12124176 | 2002 |
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0.700 | GeneticVariation | UNIPROT | Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation. | 11598466 | 2001 |