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 |
rs778361520
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity.
|
28891236 |
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 |
rs752746786
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
rs752989523
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
rs869312824
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
rs879253797
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
rs387907144
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
|
26350204 |
2015 |
rs1064795104
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
|
25256811 |
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 |
rs1064795104
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
|
23422942 |
2013 |
rs387907144
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
|
22426309 |
2012 |
rs80338796
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
|
17603483 |
2007 |
rs80338796
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
|
17603482 |
2007 |
rs1057518787
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518802
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518822
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057518836
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518843
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518963
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1085307993
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|