rs606231435
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Furthermore, his phenotype of marked ataxia was more similar to that of an Arg756Cys patient with relapsing encephalopathy and cerebellar ataxia syndrome, than to those with Arg756His and Arg756Leu mutations.
|
29066118 |
2018 |
rs606231435
|
|
|
0.720 |
GeneticVariation |
BEFREE |
We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene.
|
22924536 |
2012 |
rs606231435
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
|
|
|
rs1057519429
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Exome sequencing in five individuals with severe early onset ataxia identified one novel variant (p.R1673P), in a girl with global developmental delay and progressive cerebellar atrophy, and a recurrent, de novo p.R1664Q variant, in four individuals with global developmental delay, hypotonia, and ophthalmologic abnormalities.
|
28742085 |
2017 |
rs1057519429
|
|
G |
0.710 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057519429
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs1554904159
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
|
30879638 |
2019 |
rs531630376
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.
|
30459466 |
2019 |
rs1057519389
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1114167423
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.
|
28652255 |
2017 |
rs1554943158
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1555889162
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
|
28252636 |
2017 |
rs1555889162
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.
|
29264397 |
2017 |
rs141659620
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
rs374997012
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.
|
27551684 |
2016 |
rs72547551
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
rs748309520
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
rs752989523
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
rs863224229
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.
|
27756633 |
2016 |
rs879253797
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
rs879253798
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
rs886037832
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.
|
27551684 |
2016 |
rs267607116
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |
rs1043679457
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057518796
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|