IQSEC2, IQ motif and Sec7 domain ArfGEF 2, 23096

N. diseases: 155; N. variants: 33
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607187
rs267607187
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		0.800 GeneticVariation UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055 2015
dbSNP: rs267607188
rs267607188
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		0.800 GeneticVariation UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055 2015
dbSNP: rs267607189
rs267607189
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		0.800 GeneticVariation UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055 2015
dbSNP: rs875989799
rs875989799
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		0.800 GeneticVariation UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055 2015
dbSNP: rs267607187
rs267607187
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		0.800 GeneticVariation UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311 2010
dbSNP: rs267607188
rs267607188
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		0.800 GeneticVariation UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311 2010
dbSNP: rs267607189
rs267607189
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		0.800 GeneticVariation UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311 2010
dbSNP: rs875989799
rs875989799
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		0.800 GeneticVariation UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311 2010
dbSNP: rs267607187
rs267607187
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs267607188
rs267607188
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267607189
rs267607189
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs875989799
rs875989799
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1569305431
rs1569305431
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C1510586
Disease:
Autism Spectrum Disorders 		A 0.700 GeneticVariation CLINVAR Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. 30763456 2019
dbSNP: rs1569291627
rs1569291627
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		T 0.700 GeneticVariation CLINVAR Synaptic functions of the IQSEC family of ADP-ribosylation factor guanine nucleotide exchange factors. 27369185 2017
dbSNP: rs886041481
rs886041481
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		A 0.700 CausalMutation CLINVAR The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey. 28815955 2017
dbSNP: rs1556861311
rs1556861311
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		T 0.700 GeneticVariation CLINVAR The molecular and phenotypic spectrum of IQSEC2-related epilepsy. 27665735 2016
dbSNP: rs1569291627
rs1569291627
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		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
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		T 0.700 GeneticVariation CLINVAR The molecular and phenotypic spectrum of IQSEC2-related epilepsy. 27665735 2016
dbSNP: rs374220843
rs374220843
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		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
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C0454644
Disease:
Delayed speech and language development 		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: rs797045140
rs797045140
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C0026351
Disease:
Moderate intellectual disability 		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: rs797045140
rs797045140
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C0026106
Disease:
Mild Mental Retardation 		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: rs797045140
rs797045140
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C0036857
Disease:
Severe intellectual disability 		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: rs797045140
rs797045140
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C0751265
Disease:
Learning Disabilities 		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: rs797045140
rs797045140
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		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