IQSEC2, IQ motif and Sec7 domain ArfGEF 2, 23096

N. diseases: 155; N. variants: 33
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267607189
rs267607189 		1.000 0.080 X 53250303 missense variant C/T snv
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2010 2015
dbSNP: rs875989799
rs875989799 		1.000 0.080 X 53248814 missense variant G/A snv
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2010 2015
dbSNP: rs1556861311
rs1556861311 		1.000 0.080 X 53243331 splice donor variant C/T snv
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2010 2016
dbSNP: rs374220843
rs374220843 		1.000 0.080 X 53236386 stop gained G/A;T snv 5.2E-05 1.9E-05
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs797045140
rs797045140 		0.827 0.200 X 53238308 splice region variant TG/- delins
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs797045140
rs797045140 		0.827 0.200 X 53238308 splice region variant TG/- delins
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs797045140
rs797045140 		0.827 0.200 X 53238308 splice region variant TG/- delins
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs797045140
rs797045140 		0.827 0.200 X 53238308 splice region variant TG/- delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs797045140
rs797045140 		0.827 0.200 X 53238308 splice region variant TG/- delins
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs797045140
rs797045140 		0.827 0.200 X 53238308 splice region variant TG/- delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs1569291627
rs1569291627 		1.000 0.080 X 53234811 frameshift variant G/- delins
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 5 2010 2017
dbSNP: rs886041481
rs886041481 		1.000 0.080 X 53255995 frameshift variant G/- delins
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1569305431
rs1569305431 		1.000 0.040 X 53254702 frameshift variant G/- delins
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 1.000 1 2019 2019