Gene: NR2F2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555446980
rs1555446980
NR2F2 ; MIR1469
T 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
dbSNP: rs1555447237
rs1555447237
NR2F2
C 0.700 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
dbSNP: rs1555446980
rs1555446980
NR2F2 ; MIR1469
T 0.700 CausalMutation CLINVAR Clinical application of whole-exome sequencing across clinical indications. 26633542

2016
dbSNP: rs1555447237
rs1555447237
NR2F2
C 0.700 GeneticVariation CLINVAR Clinical application of whole-exome sequencing across clinical indications. 26633542

2016
dbSNP: rs1555446980
rs1555446980
NR2F2 ; MIR1469
T 0.700 CausalMutation CLINVAR Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. 24702427

2015
dbSNP: rs1555447237
rs1555447237
NR2F2
C 0.700 GeneticVariation CLINVAR Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. 24702427

2015
dbSNP: rs1555446980
rs1555446980
NR2F2 ; MIR1469
T 0.700 CausalMutation CLINVAR Rare variants in NR2F2 cause congenital heart defects in humans. 24702954

2014
dbSNP: rs1555447237
rs1555447237
NR2F2
C 0.700 GeneticVariation CLINVAR Rare variants in NR2F2 cause congenital heart defects in humans. 24702954

2014
dbSNP: rs1555446980
rs1555446980
NR2F2 ; MIR1469
T 0.700 CausalMutation CLINVAR 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects. 21172461

2011
dbSNP: rs1555447237
rs1555447237
NR2F2
C 0.700 GeneticVariation CLINVAR 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects. 21172461

2011
dbSNP: rs1555446980
rs1555446980
NR2F2 ; MIR1469
T 0.700 CausalMutation CLINVAR Identification of COUP-TFII orphan nuclear receptor as a retinoic acid-activated receptor. 18798693

2008
dbSNP: rs1555446980
rs1555446980
NR2F2 ; MIR1469
T 0.700 CausalMutation CLINVAR Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. 18371933

2008
dbSNP: rs1555447237
rs1555447237
NR2F2
C 0.700 GeneticVariation CLINVAR Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. 18371933

2008
dbSNP: rs1555447237
rs1555447237
NR2F2
C 0.700 GeneticVariation CLINVAR Identification of COUP-TFII orphan nuclear receptor as a retinoic acid-activated receptor. 18798693

2008
dbSNP: rs1555446980
rs1555446980
NR2F2 ; MIR1469
T 0.700 CausalMutation CLINVAR Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. 15750894

2005
dbSNP: rs1555446980
rs1555446980
NR2F2 ; MIR1469
T 0.700 CausalMutation CLINVAR Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia. 16251273

2005
dbSNP: rs1555447237
rs1555447237
NR2F2
C 0.700 GeneticVariation CLINVAR Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. 15750894

2005
dbSNP: rs1555447237
rs1555447237
NR2F2
C 0.700 GeneticVariation CLINVAR Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia. 16251273

2005
dbSNP: rs1555446980
rs1555446980
NR2F2 ; MIR1469
T 0.700 CausalMutation CLINVAR The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development. 10215630

1999
dbSNP: rs1555447237
rs1555447237
NR2F2
C 0.700 GeneticVariation CLINVAR The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development. 10215630

1999