Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61749738
rs61749738
0.010 GeneticVariation BEFREE In addition to a FOXG1 mutation in a patient with all core features of the congenital variant of RTT, we identified a missense (p.Ser240Thr) in CDKL5 in a patient who appeared to be seizure free. 27062609

2017

dbSNP: rs267608595
rs267608595
0.010 GeneticVariation BEFREE We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient. 26755454

2016

dbSNP: rs63390262
rs63390262
0.010 GeneticVariation BEFREE We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient. 26755454

2016

dbSNP: rs782460882
rs782460882
0.010 GeneticVariation BEFREE We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient. 26755454

2016

dbSNP: rs267608563
rs267608563
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: rs61749720
rs61749720
0.010 GeneticVariation BEFREE Patient 1 presented somatic mosaicism for the classic RTT p.R106W mutation and patient 4 carried the p.T203M polymorphism. 20098342

2010

dbSNP: rs267608597
rs267608597
0.010 GeneticVariation BEFREE The first one, the double nucleotide substitution c.1162_1163delinsTA leading to a premature stop codon (p.Pro388X) was found in a female patient with random X-inactivation, presenting with borderline mental impairment without any features of Rett syndrome. 17383248

2007

dbSNP: rs61748381
rs61748381
0.010 GeneticVariation BEFREE L100V and A201V are apparently disease-causing mutations in Korean RTT, contrary to previous studies. 16672765

2006

dbSNP: rs61748395
rs61748395
0.010 GeneticVariation BEFREE The mutation (p.Y141C) lies within the methyl-binding domain, and has only been reported once in another atypical RTT. 16879196

2006

dbSNP: rs61749735
rs61749735
0.010 GeneticVariation BEFREE We found six polymorphisms (three novel, three previously reported) in 10 patients, one novel unclassified silent change (p.V222V) in a man, and one causative mutation in a girl with MR. Once this case was clinically reviewed, the girl presented symptoms of atypical RTT. 16879196

2006

dbSNP: rs61748391
rs61748391
0.700 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017

dbSNP: rs61748406
rs61748406
0.700 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017

dbSNP: rs61748407
rs61748407
0.700 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017

dbSNP: rs61748417
rs61748417
0.700 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017

dbSNP: rs61749730
rs61749730
0.700 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017

dbSNP: rs61751373
rs61751373
0.700 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017

dbSNP: rs61751441
rs61751441
0.700 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017

dbSNP: rs61751450
rs61751450
0.700 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017

dbSNP: rs61753000
rs61753000
0.700 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017

dbSNP: rs267608465
rs267608465
C 0.700 GeneticVariation CLINVAR Brief report: systematic review of Rett syndrome in males. 26254891

2015

dbSNP: rs61748391
rs61748391
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015

dbSNP: rs61748406
rs61748406
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015

dbSNP: rs61748407
rs61748407
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015

dbSNP: rs61748417
rs61748417
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015

dbSNP: rs61749730
rs61749730
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015