Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607187
rs267607187
IQSEC2
0.800 GeneticVariation UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055

2015
dbSNP: rs267607188
rs267607188
IQSEC2
0.800 GeneticVariation UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055

2015
dbSNP: rs267607189
rs267607189
IQSEC2
0.800 GeneticVariation UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055

2015
dbSNP: rs875989799
rs875989799
IQSEC2
0.800 GeneticVariation UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055

2015
dbSNP: rs267607187
rs267607187
IQSEC2
0.800 GeneticVariation UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311

2010
dbSNP: rs267607188
rs267607188
IQSEC2
0.800 GeneticVariation UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311

2010
dbSNP: rs267607189
rs267607189
IQSEC2
0.800 GeneticVariation UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311

2010
dbSNP: rs875989799
rs875989799
IQSEC2
0.800 GeneticVariation UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311

2010
dbSNP: rs267607187
rs267607187
IQSEC2
G 0.800 CausalMutation CLINVAR

dbSNP: rs267607188
rs267607188
IQSEC2
A 0.800 CausalMutation CLINVAR

dbSNP: rs267607189
rs267607189
IQSEC2
T 0.800 CausalMutation CLINVAR

dbSNP: rs875989799
rs875989799
IQSEC2
A 0.800 CausalMutation CLINVAR

dbSNP: rs1569291627
rs1569291627
IQSEC2
T 0.700 GeneticVariation CLINVAR Synaptic functions of the IQSEC family of ADP-ribosylation factor guanine nucleotide exchange factors. 27369185

2017
dbSNP: rs886041481
rs886041481
IQSEC2
A 0.700 CausalMutation CLINVAR The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey. 28815955

2017
dbSNP: rs1556861311
rs1556861311
IQSEC2
T 0.700 GeneticVariation CLINVAR The molecular and phenotypic spectrum of IQSEC2-related epilepsy. 27665735

2016
dbSNP: rs1569291627
rs1569291627
IQSEC2
T 0.700 GeneticVariation CLINVAR Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression. 27009485

2016
dbSNP: rs1569291627
rs1569291627
IQSEC2
T 0.700 GeneticVariation CLINVAR The molecular and phenotypic spectrum of IQSEC2-related epilepsy. 27665735

2016
dbSNP: rs374220843
rs374220843
IQSEC2
T 0.700 CausalMutation CLINVAR Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 27652284

2016
dbSNP: rs797045140
rs797045140
IQSEC2
C 0.700 CausalMutation CLINVAR A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability. 26733290

2016
dbSNP: rs1556861311
rs1556861311
IQSEC2
T 0.700 GeneticVariation CLINVAR Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055

2015
dbSNP: rs267607186
rs267607186
IQSEC2
0.700 GeneticVariation UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055

2015
dbSNP: rs587777261
rs587777261
IQSEC2
A 0.700 CausalMutation CLINVAR Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability. 23674175

2014
dbSNP: rs1556861311
rs1556861311
IQSEC2
T 0.700 GeneticVariation CLINVAR Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability. 21686261

2010
dbSNP: rs1569291627
rs1569291627
IQSEC2
T 0.700 GeneticVariation CLINVAR Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability. 21686261

2010
dbSNP: rs1569291627
rs1569291627
IQSEC2
T 0.700 GeneticVariation CLINVAR Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311

2010