| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | GeneticVariation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. | 16236812 | 2006 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. | 16100726 | 2005 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR. | 26725122 | 2016 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | High rate of mosaicism in individuals with Cornelia de Lange syndrome. | 23505322 | 2013 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. | 15318302 | 2004 |
|||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. | 17661813 | 2007 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR. | 26725122 | 2016 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. | 15318302 | 2004 |
|||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. | 16100726 | 2005 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. | 23254390 | 2013 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. | 26938784 | 2016 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR |