Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. | 18413255 | 2008 |
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|
T | 0.700 | CausalMutation | CLINVAR | Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. | 18413255 | 2008 |
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|
C | 0.700 | CausalMutation | CLINVAR | Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. | 19206169 | 2009 |
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|
T | 0.700 | CausalMutation | CLINVAR | Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. | 19206169 | 2009 |
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|
C | 0.700 | CausalMutation | CLINVAR | Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. | 4386970 | 1968 |
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|
T | 0.700 | CausalMutation | CLINVAR | Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. | 4386970 | 1968 |
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|
C | 0.700 | CausalMutation | CLINVAR | LEOPARD syndrome: clinical diagnosis in the first year of life. | 16523510 | 2006 |
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|
T | 0.700 | CausalMutation | CLINVAR | LEOPARD syndrome: clinical diagnosis in the first year of life. | 16523510 | 2006 |
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|
C | 0.700 | CausalMutation | CLINVAR | Multiple lentigenes syndrome. | 5771505 | 1969 |
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|
T | 0.700 | CausalMutation | CLINVAR | Multiple lentigenes syndrome. | 5771505 | 1969 |
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|
C | 0.700 | CausalMutation | CLINVAR | Neurological complications of cardio-facio-cutaneous syndrome. | 18039235 | 2007 |
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|
T | 0.700 | CausalMutation | CLINVAR | Neurological complications of cardio-facio-cutaneous syndrome. | 18039235 | 2007 |
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|
C | 0.700 | CausalMutation | CLINVAR | The cardiofaciocutaneous syndrome. | 16825433 | 2006 |
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|
T | 0.700 | CausalMutation | CLINVAR | The cardiofaciocutaneous syndrome. | 16825433 | 2006 |
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|
C | 0.700 | CausalMutation | CLINVAR | The RASopathies. | 23875798 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | The RASopathies. | 23875798 | 2013 |