Gene: DYRK1A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs724159948
rs724159948
DYRK1A ; LOC105372797
T 0.700 CausalMutation CLINVAR Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. 28053047

2017
dbSNP: rs724159948
rs724159948
DYRK1A ; LOC105372797
T 0.700 CausalMutation CLINVAR Clinical phenotype of ASD-associated DYRK1A haploinsufficiency. 29034068

2017
dbSNP: rs724159953
rs724159953
DYRK1A
T 0.700 CausalMutation CLINVAR Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. 28053047

2017
dbSNP: rs780441716
rs780441716
DYRK1A ; LOC105372797
T 0.700 CausalMutation CLINVAR Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. 28053047

2017
dbSNP: rs1555984064
rs1555984064
DYRK1A ; LOC105372797
T 0.700 CausalMutation CLINVAR Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. 25707398

2016
dbSNP: rs1555984461
rs1555984461
DYRK1A ; LOC105372797
G 0.700 CausalMutation CLINVAR Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. 27241786

2016
dbSNP: rs1555984461
rs1555984461
DYRK1A ; LOC105372797
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
dbSNP: rs797044520
rs797044520
DYRK1A
T 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs797045041
rs797045041
DYRK1A
A 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs797045042
rs797045042
DYRK1A
AG 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs1555985649
rs1555985649
DYRK1A
T 0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs1555985649
rs1555985649
DYRK1A
T 0.700 GeneticVariation CLINVAR Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 25920557

2015
dbSNP: rs1569371303
rs1569371303
DYRK1A ; LOC105372797
C 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs724159948
rs724159948
DYRK1A ; LOC105372797
T 0.700 CausalMutation CLINVAR Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 25920557

2015
dbSNP: rs724159949
rs724159949
DYRK1A ; LOC105372797
T 0.700 CausalMutation CLINVAR DYRK1A mutations in two unrelated patients. 25641759

2015
dbSNP: rs724159949
rs724159949
DYRK1A ; LOC105372797
T 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs724159949
rs724159949
DYRK1A ; LOC105372797
T 0.700 CausalMutation CLINVAR Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 25920557

2015
dbSNP: rs724159953
rs724159953
DYRK1A
T 0.700 CausalMutation CLINVAR Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 25920557

2015
dbSNP: rs797044519
rs797044519
DYRK1A
G 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs797044520
rs797044520
DYRK1A
T 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs797044521
rs797044521
DYRK1A ; LOC105372797
G 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs797044522
rs797044522
DYRK1A
G 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs797044523
rs797044523
DYRK1A ; LOC105372797
TA 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs797044524
rs797044524
DYRK1A ; LOC105372797
T 0.700 GeneticVariation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs797044525
rs797044525
DYRK1A ; LOC105372797
G 0.700 GeneticVariation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015