Gene: CDKL5 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894928
rs104894928
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR

dbSNP: rs104894929
rs104894929
RS1 ; CDKL5
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894930
rs104894930
RS1 ; CDKL5
A 0.800 CausalMutation CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330

2010
dbSNP: rs104894930
rs104894930
RS1 ; CDKL5
A 0.800 CausalMutation CLINVAR Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. 9618178

1998
dbSNP: rs104894930
rs104894930
RS1 ; CDKL5
A 0.800 CausalMutation CLINVAR Detailed Morphological Changes of Foveoschisis in Patient with X-Linked Retinoschisis Detected by SD-OCT and Adaptive Optics Fundus Camera. 26356828

2015
dbSNP: rs104894930
rs104894930
RS1 ; CDKL5
A 0.800 CausalMutation CLINVAR Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland. 10234514

1999
dbSNP: rs104894930
rs104894930
RS1 ; CDKL5
A 0.800 CausalMutation CLINVAR Identification of XLRS1 gene mutation (608C > T) in a Portuguese family with juvenile retinoschisis. 16167295

2005
dbSNP: rs104894930
rs104894930
RS1 ; CDKL5
A 0.800 CausalMutation CLINVAR Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography. 18541843

2008
dbSNP: rs104894930
rs104894930
RS1 ; CDKL5
A 0.800 CausalMutation CLINVAR First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis. 10636740

1999
dbSNP: rs104894930
rs104894930
RS1 ; CDKL5
A 0.800 CausalMutation CLINVAR Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis. 17515881

2007
dbSNP: rs104894930
rs104894930
RS1 ; CDKL5
A 0.800 CausalMutation CLINVAR Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online. 10220153

1999
dbSNP: rs104894932
rs104894932
RS1 ; CDKL5
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894933
rs104894933
RS1 ; CDKL5
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894934
rs104894934
RS1 ; CDKL5
G 0.800 CausalMutation CLINVAR

dbSNP: rs281865355
rs281865355
RS1 ; CDKL5
T 0.800 GeneticVariation CLINVAR Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes. 23847049

2013
dbSNP: rs281865355
rs281865355
RS1 ; CDKL5
T 0.800 GeneticVariation CLINVAR Proteomic profiling of human intraschisis cavity fluid. 28450823

2017
dbSNP: rs281865355
rs281865355
RS1 ; CDKL5
T 0.800 GeneticVariation CLINVAR Dramatic regression of macular and peripheral retinoschisis with dorzolamide 2 % in X-linked retinoschisis: a case report. 27246168

2016
dbSNP: rs281865355
rs281865355
RS1 ; CDKL5
T 0.800 GeneticVariation CLINVAR Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation. 17631851

2007
dbSNP: rs281865355
rs281865355
RS1 ; CDKL5
T 0.800 GeneticVariation CLINVAR Molecular genetic characteristics of X-linked retinoschisis in Koreans. 19390641

2009
dbSNP: rs281865355
rs281865355
RS1 ; CDKL5
T 0.800 GeneticVariation CLINVAR Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. 9618178

1998
dbSNP: rs281865355
rs281865355
RS1 ; CDKL5
T 0.800 GeneticVariation CLINVAR Segmented swept source optical coherence tomography angiography assessment of the perifoveal vasculature in patients with X-linked juvenile retinoschisis: a serial case report. 29081674

2017
dbSNP: rs281865355
rs281865355
RS1 ; CDKL5
T 0.800 GeneticVariation CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330

2010
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene. 15531314

2004
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease. 16272055

2005
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia. 15932525

2005