| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | GeneticVariation | CLINVAR | Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. | 28807008 | 2017 |
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|
G | 0.700 | GeneticVariation | CLINVAR | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. | 26938784 | 2016 |
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|
T | 0.700 | CausalMutation | CLINVAR | Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. | 26350204 | 2015 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay. | 22609145 | 2012 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. | 22426309 | 2012 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. | 19238151 | 2010 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. | 17704778 | 2007 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
GAGG | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR |