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: rs104894928
rs104894928 		0.882 0.040 X 18647303 missense variant C/G;T snv 1.1E-05
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 13 1997 2016
dbSNP: rs104894928
rs104894928 		0.882 0.040 X 18647303 missense variant C/G;T snv 1.1E-05
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		Eye Diseases 0.020 1.000 2 1999 1999
dbSNP: rs104894928
rs104894928 		0.882 0.040 X 18647303 missense variant C/G;T snv 1.1E-05
CUI: C0152439
Disease: Retinoschisis
Retinoschisis 		Eye Diseases 0.010 1.000 1 1998 1998
dbSNP: rs104894929
rs104894929 		1.000 X 18642012 missense variant A/G snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 13 1997 2016
dbSNP: rs104894930
rs104894930 		0.882 0.040 X 18642071 missense variant G/A snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 20 1997 2016
dbSNP: rs104894930
rs104894930 		0.882 0.040 X 18642071 missense variant G/A snv
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		Eye Diseases 0.010 1.000 1 2005 2005
dbSNP: rs104894930
rs104894930 		0.882 0.040 X 18642071 missense variant G/A snv
CUI: C0152439
Disease: Retinoschisis
Retinoschisis 		Eye Diseases 0.700 0
dbSNP: rs104894932
rs104894932 		1.000 X 18647301 missense variant C/G;T snv 5.5E-06
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 13 1997 2016
dbSNP: rs104894933
rs104894933 		0.925 0.040 X 18647296 missense variant C/A snv 9.5E-06
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 13 1997 2016
dbSNP: rs104894933
rs104894933 		0.925 0.040 X 18647296 missense variant C/A snv 9.5E-06
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		Eye Diseases 0.010 1.000 1 1999 1999
dbSNP: rs104894934
rs104894934 		0.925 0.040 X 18647192 missense variant C/A;G snv 1.6E-05
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 13 1997 2016
dbSNP: rs104894934
rs104894934 		0.925 0.040 X 18647192 missense variant C/A;G snv 1.6E-05
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		Eye Diseases 0.010 1.000 1 1999 1999
dbSNP: rs1057516744
rs1057516744 		1.000 X 18644454 stop gained G/T snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 1 2011 2011
dbSNP: rs1057517433
rs1057517433 		1.000 X 18642006 stop lost A/G snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 0
dbSNP: rs1057518203
rs1057518203 		1.000 0.160 X 18603930 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: rs1057518759
rs1057518759 		1.000 0.040 X 18604394 frameshift variant -/GC delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1057518759
rs1057518759 		1.000 0.040 X 18604394 frameshift variant -/GC delins
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.700 0
dbSNP: rs1057519541
rs1057519541 		1.000 0.040 X 18628515 stop gained C/T snv
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		Nervous System Diseases 0.700 0
dbSNP: rs1057519542
rs1057519542 		1.000 0.040 X 18604372 frameshift variant -/GACC delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1060501859
rs1060501859 		1.000 0.160 X 18598460 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: rs1060501860
rs1060501860 		1.000 0.160 X 18608887 frameshift variant C/- 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: 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