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: rs267607187
rs267607187 		1.000 0.080 X 53248778 missense variant T/G 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: rs267607188
rs267607188 		1.000 0.080 X 53254856 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: 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: 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: 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: rs267607186
rs267607186 		1.000 0.080 X 53247131 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 0.700 1.000 2 2010 2015
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
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: rs587777261
rs587777261 		1.000 0.080 X 53248133 stop gained 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 0.700 1.000 1 2014 2014
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: 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: rs1057518993
rs1057518993 		1.000 0.040 X 53243367 stop gained G/A snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
dbSNP: rs1057520858
rs1057520858 		1.000 0.080 X 53243445 stop gained 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 0.700 0
dbSNP: rs1060499660
rs1060499660 		1.000 0.080 X 53248219 missense variant A/G 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 0
dbSNP: rs1064795512
rs1064795512 		1.000 0.080 X 53234646 frameshift variant -/C 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 0
dbSNP: rs1556858912
rs1556858912 		1.000 0.080 X 53234247 frameshift variant -/GGCCT 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 0
dbSNP: rs1556859744
rs1556859744 		1.000 0.080 X 53236495 missense variant G/A;C 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 0
dbSNP: rs1556863340
rs1556863340 		1.000 0.080 X 53250900 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 0
dbSNP: rs1556863398
rs1556863398 		1.000 0.080 X 53250926 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 0