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: rs786204973
rs786204973 		1.000 0.160 X 18506933 splice acceptor variant A/G 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: rs267608415
rs267608415 		1.000 0.160 X 18507133 frameshift variant T/- 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: rs267608418
rs267608418 		1.000 0.160 X 18507154 missense variant G/C 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: rs587783406
rs587783406 		1.000 0.160 X 18507158 missense variant A/G 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: rs267608419
rs267608419 		1.000 0.160 X 18507162 splice donor variant T/- del
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: rs267608420
rs267608420 		1.000 0.160 X 18510818 splice region 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 0
dbSNP: rs1555940536
rs1555940536 		1.000 0.160 X 18510844 missense variant G/A 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: rs786204991
rs786204991 		1.000 0.160 X 18510846 missense variant A/G 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: rs267608421
rs267608421 		0.925 0.160 X 18510855 splice donor variant G/T snv
CUI: C0037769
Disease: West Syndrome
West Syndrome 		Nervous System Diseases 0.700 0
dbSNP: rs267608421
rs267608421 		0.925 0.160 X 18510855 splice donor variant G/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: rs587783131
rs587783131 		1.000 0.160 X 18510859 splice region variant G/A 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: rs267608423
rs267608423 		1.000 0.160 X 18564475 splice acceptor variant A/G 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: 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: 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: rs267608429
rs267608429 		1.000 0.160 X 18564502 missense variant A/G 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: rs267608430
rs267608430 		1.000 0.080 X 18564524 splice donor variant T/C snv 2.0E-04
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587783399
rs587783399 		1.000 0.160 X 18575353 splice acceptor variant G/A 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: 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: rs875989950
rs875989950 		1.000 0.160 X 18575381 stop gained T/A 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: rs62653623
rs62653623 		0.851 0.240 X 18575383 stop gained C/T snv
CUI: C0410539
Disease: Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019