| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Structural basis of fumarate hydratase deficiency. | 21445611 | 2011 |
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|
A | 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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|
A | 0.700 | CausalMutation | CLINVAR | Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. | 21404119 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. | 21398687 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Fumaric aciduria: an overview and the first Brazilian case report. | 20549362 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. | 18366737 | 2008 |
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|
A | 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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|
A | 0.700 | CausalMutation | CLINVAR | Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. | 15761418 | 2005 |
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|
A | 0.700 | CausalMutation | CLINVAR | Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. | 11865300 | 2002 |
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|
A | 0.700 | CausalMutation | CLINVAR | Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. | 9300800 | 1997 |