Gene: CDKL5 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients. 28272453

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: 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: rs61753174
rs61753174
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide. 23514609

2014
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: rs61753174
rs61753174
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR A phenotype-genotype correlation study of X-linked retinoschisis. 23453514

2013
dbSNP: rs62645894
rs62645894
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes. 23847049

2013
dbSNP: rs61752068
rs61752068
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR Novel clinical manifestation of congenital X-linked retinoschisis. 22332228

2012
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. 20801516

2011
dbSNP: rs61752068
rs61752068
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene. 21701876

2011
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: 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 Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330

2010
dbSNP: rs61752060
rs61752060
RS1 ; CDKL5
C 0.800 GeneticVariation CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330

2010
dbSNP: rs61752068
rs61752068
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330

2010
dbSNP: rs61752159
rs61752159
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: rs61753174
rs61753174
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease. 20809529

2010
dbSNP: rs61753174
rs61753174
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330

2010
dbSNP: rs62645894
rs62645894
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330

2010
dbSNP: rs281865355
rs281865355
RS1 ; CDKL5
T 0.800 GeneticVariation CLINVAR Molecular genetic characteristics of X-linked retinoschisis in Koreans. 19390641

2009
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Molecular genetic characteristics of X-linked retinoschisis in Koreans. 19390641

2009
dbSNP: rs61752060
rs61752060
RS1 ; CDKL5
C 0.800 GeneticVariation CLINVAR Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis. 19324861

2009
dbSNP: rs61752068
rs61752068
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR Molecular genetic characteristics of X-linked retinoschisis in Koreans. 19390641

2009