| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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|
T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
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T | 0.700 | CausalMutation | CLINVAR | Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. | 19206176 | 2009 |
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|
|
T | 0.700 | CausalMutation | CLINVAR | Severe neonatal manifestations of Costello syndrome. | 18039947 | 2008 |
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|
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T | 0.700 | CausalMutation | CLINVAR | Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. | 17054105 | 2007 |
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|
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T | 0.700 | CausalMutation | CLINVAR | HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. | 16372351 | 2006 |
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|
|
T | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. | 16443854 | 2006 |
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|
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T | 0.700 | CausalMutation | CLINVAR | HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. | 16329078 | 2006 |
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|
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T | 0.700 | CausalMutation | CLINVAR | Somatic mosaicism for an HRAS mutation causes Costello syndrome. | 16969868 | 2006 |
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|
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T | 0.700 | CausalMutation | CLINVAR | Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. | 16881968 | 2006 |
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|
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T | 0.700 | CausalMutation | CLINVAR | Germline mutations in HRAS proto-oncogene cause Costello syndrome. | 16170316 | 2005 |
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|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
CA | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
GTTTT | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
CT | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR | A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. | 28540413 | 2017 |
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A | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR |