| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
GT | 0.700 | CausalMutation | CLINVAR | Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. | 30267900 | 2019 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. | 27668699 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. | 26350204 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. | 26637980 | 2015 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. | 22426309 | 2012 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Genotype differences in cognitive functioning in Noonan syndrome. | 19077116 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. | 16474404 | 2006 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. | 16439621 | 2006 |
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|
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 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
GT | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |