Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1565909334
rs1565909334
CUX2 ; LOC105369983
A 0.700 GeneticVariation CLINVAR The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. 29630738

2018
dbSNP: rs1565909334
rs1565909334
CUX2 ; LOC105369983
A 0.700 GeneticVariation CLINVAR A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder. 29795476

2018
dbSNP: rs1565909334
rs1565909334
CUX2 ; LOC105369983
A 0.700 GeneticVariation CLINVAR Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100

2017
dbSNP: rs1565909334
rs1565909334
CUX2 ; LOC105369983
A 0.700 GeneticVariation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937

2012
dbSNP: rs1565909334
rs1565909334
CUX2 ; LOC105369983
A 0.700 CausalMutation CLINVAR