| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
TA | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. | 23160955 | 2012 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
TA | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. | 25707398 | 2016 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. | 27241786 | 2016 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. | 26922654 | 2016 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | Large-scale discovery of novel genetic causes of developmental disorders. | 25533962 | 2015 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. | 25920557 | 2015 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
AT | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. | 25944381 | 2015 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. | 28053047 | 2017 |