Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555951954
rs1555951954
G 0.700 CausalMutation CLINVAR Functional abilities in children and adults with the CDKL5 disorder. 27528505

2016

dbSNP: rs1555951954
rs1555951954
G 0.700 CausalMutation CLINVAR Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. 26708753

2016

dbSNP: rs786204963
rs786204963
C 0.700 GeneticVariation CLINVAR Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. 26708753

2016

dbSNP: rs786204963
rs786204963
C 0.700 GeneticVariation CLINVAR Functional abilities in children and adults with the CDKL5 disorder. 27528505

2016

dbSNP: rs786204967
rs786204967
C 0.700 CausalMutation CLINVAR Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. 26708753

2016

dbSNP: rs786204967
rs786204967
C 0.700 CausalMutation CLINVAR Functional abilities in children and adults with the CDKL5 disorder. 27528505

2016

dbSNP: rs1555951954
rs1555951954
G 0.700 CausalMutation CLINVAR GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells. 24916645

2015

dbSNP: rs786204963
rs786204963
C 0.700 GeneticVariation CLINVAR GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells. 24916645

2015

dbSNP: rs786204967
rs786204967
C 0.700 CausalMutation CLINVAR GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells. 24916645

2015

dbSNP: rs1555951954
rs1555951954
G 0.700 CausalMutation CLINVAR Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. 24564546

2014

dbSNP: rs1555951954
rs1555951954
G 0.700 CausalMutation CLINVAR Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys. 25266480

2014

dbSNP: rs786204963
rs786204963
C 0.700 GeneticVariation CLINVAR Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. 24564546

2014

dbSNP: rs786204963
rs786204963
C 0.700 GeneticVariation CLINVAR Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys. 25266480

2014

dbSNP: rs786204967
rs786204967
C 0.700 CausalMutation CLINVAR Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. 24564546

2014

dbSNP: rs786204967
rs786204967
C 0.700 CausalMutation CLINVAR Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys. 25266480

2014

dbSNP: rs1555951954
rs1555951954
G 0.700 CausalMutation CLINVAR Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene. 23151060

2013

dbSNP: rs1555951954
rs1555951954
G 0.700 CausalMutation CLINVAR CDKL5 and ARX mutations in males with early-onset epilepsy. 23583054

2013

dbSNP: rs1555951954
rs1555951954
G 0.700 CausalMutation CLINVAR The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. 22872100

2013

dbSNP: rs786204963
rs786204963
C 0.700 GeneticVariation CLINVAR The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. 22872100

2013

dbSNP: rs786204963
rs786204963
C 0.700 GeneticVariation CLINVAR CDKL5 and ARX mutations in males with early-onset epilepsy. 23583054

2013

dbSNP: rs786204963
rs786204963
C 0.700 GeneticVariation CLINVAR Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene. 23151060

2013

dbSNP: rs786204967
rs786204967
C 0.700 CausalMutation CLINVAR Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene. 23151060

2013

dbSNP: rs786204967
rs786204967
C 0.700 CausalMutation CLINVAR The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. 22872100

2013

dbSNP: rs786204967
rs786204967
C 0.700 CausalMutation CLINVAR CDKL5 and ARX mutations in males with early-onset epilepsy. 23583054

2013

dbSNP: rs1555951954
rs1555951954
G 0.700 CausalMutation CLINVAR Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. 22678952

2012