rs368720062
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs377177061
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587779732
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs757208121
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs758036385
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs781252161
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs370880399
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
|
18950740 |
2008 |
rs386833751
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
|
18950740 |
2008 |
rs200407856
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
|
19777577 |
2009 |
rs201502401
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
|
19777577 |
2009 |
rs386833750
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
|
19777577 |
2009 |
rs386833760
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
|
19777577 |
2009 |
rs370880399
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs.
|
27082236 |
2015 |
rs201502401
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
|
22241855 |
2012 |
rs370880399
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
|
22241855 |
2012 |
rs386833751
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
|
22241855 |
2012 |
rs201502401
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
|
26477546 |
2015 |
rs201502401
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs370880399
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs386833759
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs386833760
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs797045437
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
|
26673778 |
2016 |
rs386833759
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
|
19466712 |
2009 |
rs386833750
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
|
19574260 |
2010 |
rs201502401
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
|
22425360 |
2012 |