rs1213286417
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
|
29588463 |
2018 |
rs539400286
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.
|
29398085 |
2018 |
rs376493409
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
|
28497568 |
2017 |
rs62638179
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
|
28497568 |
2017 |
rs137852832
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Development of end-stage renal disease at a young age in two cases with Joubert syndrome.
|
25818971 |
2016 |
rs137852832
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
|
27353947 |
2016 |
rs62640570
|
|
AT |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: genotyping a Northern European patient cohort.
|
25920555 |
2016 |
rs727503855
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.
|
27491411 |
2016 |
rs756302731
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
|
26673778 |
2016 |
rs764309755
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
|
26673778 |
2016 |
rs780225183
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
|
26673778 |
2016 |
rs137852832
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs386834152
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs587783017
|
|
AT |
0.700 |
CausalMutation |
CLINVAR |
Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity.
|
25445212 |
2015 |
rs727503855
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
|
26047050 |
2015 |
rs727503855
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs756302731
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs764309755
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs137852832
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
|
23591405 |
2014 |
rs776645403
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
|
25097241 |
2014 |
rs137852832
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.
|
23954617 |
2013 |
rs1555225566
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
|
23559409 |
2013 |
rs62638179
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
|
23559409 |
2013 |
rs747835249
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
|
23847139 |
2013 |
rs1170451277
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.
|
23351400 |
2012 |