| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.010 | GeneticVariation | BEFREE | Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. | 18546343 | 2008 |
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|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | Noonan syndrome and related disorders: genetics and pathogenesis. | 16124853 | 2005 |
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|
G | 0.700 | CausalMutation | CLINVAR | Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. | 12960218 | 2003 |
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|
G | 0.700 | CausalMutation | CLINVAR | PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. | 11992261 | 2002 |
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|
G | 0.700 | CausalMutation | CLINVAR | Genotype differences in cognitive functioning in Noonan syndrome. | 19077116 | 2009 |
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|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. | 30125677 | 2019 |
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|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
GC | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. | 20683980 | 2010 |
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|
G | 0.700 | CausalMutation | CLINVAR | Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. | 19953625 | 2010 |
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|
G | 0.700 | 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 | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. | 21387466 | 2011 |
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|
G | 0.700 | CausalMutation | CLINVAR | SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. | 17586837 | 2007 |