| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Reed syndrome presenting with leiomyosarcoma. | 27051714 | 2015 |
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T | 0.700 | CausalMutation | CLINVAR | Morphologic and molecular characteristics of uterine leiomyomas in hereditary leiomyomatosis and renal cancer (HLRCC) syndrome. | 23211287 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. | 20618355 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | Renal medullary carcinomas: histopathologic phenotype associated with diverse genotypes. | 21733559 | 2011 |
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T | 0.700 | CausalMutation | CLINVAR | Structural basis of fumarate hydratase deficiency. | 21445611 | 2011 |
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T | 0.700 | CausalMutation | CLINVAR | Single base mutation in the fumarate hydratase gene leading to segmental cutaneous leiomyomatosis. | 18176756 | 2008 |
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|
T | 0.700 | CausalMutation | CLINVAR | Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. | 15937070 | 2006 |
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T | 0.700 | CausalMutation | CLINVAR | Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. | 12761039 | 2003 |
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T | 0.700 | CausalMutation | CLINVAR | Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. | 12772087 | 2003 |
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T | 0.700 | CausalMutation | CLINVAR | Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. | 11865300 | 2002 |