rs1555817157
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
|
29571850 |
2018 |
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 |
rs1553630279
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
|
27915094 |
2017 |
rs121918358
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
rs141659620
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
rs61755320
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
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 |
rs752298579
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
|
26805781 |
2016 |
rs752989523
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
rs797045055
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
rs879253797
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
rs1553630279
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
|
24668549 |
2014 |
rs748787734
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
|
24785942 |
2014 |
rs1553630279
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
[Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].
|
2614104 |
1989 |
rs1043679457
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057518813
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518936
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1217391623
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1345176461
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs142110773
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1553878395
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555475794
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555507479
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|