| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency. | 29073591 | 2017 |
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|
G | 0.700 | CausalMutation | CLINVAR | Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum. | 28390077 | 2017 |
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|
G | 0.700 | CausalMutation | CLINVAR | An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences. | 25914166 | 2015 |
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|
G | 0.700 | CausalMutation | CLINVAR | C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome. | 22317973 | 2012 |
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|
G | 0.700 | CausalMutation | CLINVAR | The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. | 18470943 | 2008 |
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|
G | 0.700 | CausalMutation | CLINVAR | HRAS and the Costello syndrome. | 17250658 | 2007 |
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|
G | 0.700 | CausalMutation | CLINVAR | The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene. | 16155195 | 2006 |
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|
G | 0.700 | CausalMutation | CLINVAR | Germline mutations in HRAS proto-oncogene cause Costello syndrome. | 16170316 | 2005 |
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|
G | 0.700 | CausalMutation | CLINVAR | Costello syndrome and neurological abnormalities. | 14608654 | 2003 |
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|
G | 0.700 | CausalMutation | CLINVAR | Further delineation of cardiac abnormalities in Costello syndrome. | 12210337 | 2002 |