CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
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: rs122460159
rs122460159 		0.807 0.200 X 18564496 missense variant C/T snv
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 6 2008 2017
dbSNP: rs122460159
rs122460159 		0.807 0.200 X 18564496 missense variant C/T snv
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs122460159
rs122460159 		0.807 0.200 X 18564496 missense variant C/T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs122460159
rs122460159 		0.807 0.200 X 18564496 missense variant C/T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs267608395
rs267608395 		0.925 0.200 X 18604599 stop gained C/T snv
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2009 2009
dbSNP: rs267608493
rs267608493 		0.827 0.200 X 18584331 missense variant C/A;T snv
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs267608493
rs267608493 		0.827 0.200 X 18584331 missense variant C/A;T snv
CUI: C0037769
Disease: West Syndrome
West Syndrome 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs62643614
rs62643614 		0.925 0.200 X 18619932 frameshift variant G/- delins
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2005 2005
dbSNP: rs122460157
rs122460157 		0.882 0.200 X 18581942 missense variant G/A;T snv
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs122460157
rs122460157 		0.882 0.200 X 18581942 missense variant G/A;T snv
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs122460157
rs122460157 		0.882 0.200 X 18581942 missense variant G/A;T snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.700 0
dbSNP: rs122460158
rs122460158 		0.925 0.200 X 18628374 stop gained C/T snv
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs122460158
rs122460158 		0.925 0.200 X 18628374 stop gained C/T snv
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs122460159
rs122460159 		0.807 0.200 X 18564496 missense variant C/T snv
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs122460159
rs122460159 		0.807 0.200 X 18564496 missense variant C/T snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.700 0
dbSNP: rs267608395
rs267608395 		0.925 0.200 X 18604599 stop gained C/T snv
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267608433
rs267608433 		0.925 0.200 X 18575368 frameshift variant GAAA/- delins
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267608433
rs267608433 		0.925 0.200 X 18575368 frameshift variant GAAA/- delins
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs267608437
rs267608437 		0.925 0.200 X 18575407 missense variant C/T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267608437
rs267608437 		0.925 0.200 X 18575407 missense variant C/T snv
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs267608493
rs267608493 		0.827 0.200 X 18584331 missense variant C/A;T snv
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs267608493
rs267608493 		0.827 0.200 X 18584331 missense variant C/A;T snv
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267608643
rs267608643 		0.925 0.200 X 18604572 stop gained C/T snv
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267608643
rs267608643 		0.925 0.200 X 18604572 stop gained C/T snv
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs61749700
rs61749700 		0.882 0.200 X 18584324 missense variant A/T snv
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0