| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | GeneticVariation | BEFREE | In the second family, the couple had undergone several unsuccessful pregnancies where a de novo mutation PTPN11 c.923A>C causing Noonan syndrome was identified. | 28921562 | 2017 |
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|
G | 0.710 | CausalMutation | CLINVAR | RASopathies: Clinical Diagnosis in the First Year of Life. | 22190897 | 2011 |
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|
G | 0.710 | CausalMutation | CLINVAR | A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey. | 20718194 | 2010 |
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|
C | 0.710 | CausalMutation | CLINVAR | Genotype differences in cognitive functioning in Noonan syndrome. | 19077116 | 2009 |
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|
G | 0.710 | CausalMutation | CLINVAR | Genotype differences in cognitive functioning in Noonan syndrome. | 19077116 | 2009 |
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|
G | 0.710 | CausalMutation | CLINVAR | PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. | 19020799 | 2008 |
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|
C | 0.710 | CausalMutation | CLINVAR | Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. | 16358218 | 2006 |
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|
G | 0.710 | CausalMutation | CLINVAR | Noonan syndrome and related disorders: genetics and pathogenesis. | 16124853 | 2005 |
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|
G | 0.710 | CausalMutation | CLINVAR | Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. | 12960218 | 2003 |
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|
G | 0.710 | CausalMutation | CLINVAR | PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. | 11992261 | 2002 |