Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777274
rs587777274
NR2F1 ; NR2F1-AS1
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		C 0.800 CausalMutation CLINVAR

dbSNP: rs587777274
rs587777274
NR2F1 ; NR2F1-AS1
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		C 0.800 GeneticVariation CLINVAR

dbSNP: rs587777275
rs587777275
NR2F1 ; NR2F1-AS1
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		A 0.800 GeneticVariation CLINVAR

dbSNP: rs587777275
rs587777275
NR2F1 ; NR2F1-AS1
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs587777276
rs587777276
NR2F1
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		C 0.800 GeneticVariation CLINVAR

dbSNP: rs587777276
rs587777276
NR2F1
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		C 0.800 CausalMutation CLINVAR

dbSNP: rs587777277
rs587777277
NR2F1 ; NR2F1-AS1
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		A 0.800 GeneticVariation CLINVAR

dbSNP: rs587777277
rs587777277
NR2F1 ; NR2F1-AS1
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1022192010
rs1022192010
NR2F1 ; NR2F1-AS1
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519434
rs1057519434
NR2F1 ; NR2F1-AS1
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1287146448
rs1287146448
NR2F1 ; NR2F1-AS1
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation. 28654857

2017
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation. 28654857

2017
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. 26986877

2016
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. 26986877

2016
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. 26138355

2016
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. 26138355

2016
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. 25877686

2015
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. 25877686

2015
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR The genetic landscape of infantile spasms. 24781210

2014
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR NR2F1 mutations cause optic atrophy with intellectual disability. 24462372

2014
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR NR2F1 mutations cause optic atrophy with intellectual disability. 24462372

2014
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR The genetic landscape of infantile spasms. 24781210

2014
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay. 23300014

2013
dbSNP: rs1554074684
rs1554074684
NR2F1 ; NR2F1-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay. 23300014

2013