Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs122460157
rs122460157
CDKL5
T 0.700 CausalMutation CLINVAR

dbSNP: rs122460158
rs122460158
CDKL5
T 0.700 CausalMutation CLINVAR

dbSNP: rs122460159
rs122460159
CDKL5
T 0.700 CausalMutation CLINVAR

dbSNP: rs148744894
rs148744894
MECP2
0.010 GeneticVariation BEFREE The results showed the presence of 3 de novo point mutations in the C-terminal region: 2 novel mutations: c.1065C>A (p.S355R) and c.1030C>G (p.R344G) in the 2 typical Rett syndrome girls, but also the c.996C>T (p.S332S) mutation first described in the atypical Rett syndrome patient. 21940684

2012
dbSNP: rs267608395
rs267608395
CDKL5
T 0.700 CausalMutation CLINVAR

dbSNP: rs267608430
rs267608430
CDKL5
C 0.700 CausalMutation CLINVAR

dbSNP: rs267608433
rs267608433
CDKL5
C 0.700 CausalMutation CLINVAR

dbSNP: rs267608453
rs267608453
CDKL5
T 0.700 CausalMutation CLINVAR

dbSNP: rs267608468
rs267608468
CDKL5
G 0.700 GeneticVariation CLINVAR

dbSNP: rs267608479
rs267608479
CDKL5
A 0.700 CausalMutation CLINVAR

dbSNP: rs267608493
rs267608493
CDKL5
T 0.700 GeneticVariation CLINVAR

dbSNP: rs267608493
rs267608493
CDKL5
T 0.700 CausalMutation CLINVAR

dbSNP: rs267608505
rs267608505
CDKL5
T 0.700 CausalMutation CLINVAR

dbSNP: rs267608563
rs267608563
MECP2
0.010 GeneticVariation BEFREE The results showed the presence of 3 de novo point mutations in the C-terminal region: 2 novel mutations: c.1065C>A (p.S355R) and c.1030C>G (p.R344G) in the 2 typical Rett syndrome girls, but also the c.996C>T (p.S332S) mutation first described in the atypical Rett syndrome patient. 21940684

2012
dbSNP: rs267608623
rs267608623
CDKL5
AC 0.700 CausalMutation CLINVAR

dbSNP: rs267608643
rs267608643
CDKL5
T 0.700 CausalMutation CLINVAR

dbSNP: rs267608644
rs267608644
CDKL5
T 0.700 CausalMutation CLINVAR

dbSNP: rs267608646
rs267608646
CDKL5
CAT 0.700 CausalMutation CLINVAR

dbSNP: rs267608650
rs267608650
CDKL5
A 0.700 CausalMutation CLINVAR

dbSNP: rs267608657
rs267608657
CDKL5
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587781033
rs587781033
MECP2
0.010 GeneticVariation BEFREE A novel variant p.T479T has also been identified in a patient with atypical Rett syndrome. 23262346

2013
dbSNP: rs587783072
rs587783072
CDKL5
G 0.700 GeneticVariation CLINVAR

dbSNP: rs61748396
rs61748396
MECP2
C 0.700 CausalMutation CLINVAR

dbSNP: rs61749700
rs61749700
CDKL5
T 0.700 CausalMutation CLINVAR

dbSNP: rs61750250
rs61750250
CDKL5
A 0.700 CausalMutation CLINVAR