rs878853280
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
|
27236917 |
2016 |
rs878853281
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
|
27236917 |
2016 |
rs878853282
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
|
27236917 |
2016 |
rs878853283
|
|
AT |
0.700 |
CausalMutation |
CLINVAR |
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
|
27236917 |
2016 |
rs398122394
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
rs1064794533
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs114925667
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs147484110
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554504684
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555731819
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1562114190
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1569525894
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs374052333
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs796052505
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1386710060
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a homozygous mutation affecting the GAF-B domain of the 3',5'-cyclic nucleotide phosphodiesterase PDE2A gene (c.1439A>G; p.Asp480Gly) as the candidate novel genetic cause of chorea in the proband.
|
29392776 |
2018 |
rs587777057
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The neurological phenotypes associated with GNAO1 mutations appear to lie on a spectrum, and it is possible that the c.607G>A (p.Gly203Arg) variant characterizes a phenotype with both severe epilepsy and chorea.
|
28202424 |
2017 |
rs796065306
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In 2 unrelated families, a p.A726T mutation in the first cytoplasmic domain (C1) causes a relatively mild disorder of prominent facial and hand dystonia and chorea.
|
26537056 |
2015 |
rs864309484
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In one family, a p.M1029K mutation in the C2 domain causes severe dystonia, hypotonia, and chorea.
|
26537056 |
2015 |
rs121918304
|
|
|
0.010 |
GeneticVariation |
BEFREE |
FBXO7-R498X mutation: phenotypic variability from chorea to early onset parkinsonism within a family.
|
25169713 |
2014 |
rs6280
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Stepwise regression analysis revealed no effect of DRD3 Ser9Gly on chorea, dystonia, or motor fluctuations in PD, despite incorporating established clinical risk factors to avoid overlooking an effect of genotype.
|
19353703 |
2009 |