| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.710 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome. | 26788536 | 2016 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Molecular diagnostic experience of whole-exome sequencing in adult patients. | 26633545 | 2016 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx. | 21932317 | 2011 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype correlations in Rubinstein-Taybi syndrome. | 18792986 | 2008 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype correlations in Rubinstein-Taybi syndrome. | 18792986 | 2008 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients. | 17052327 | 2006 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients. | 17052327 | 2006 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients. | 17052327 | 2006 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. | 15706485 | 2005 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography. | 16359492 | 2005 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
CA | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR |