Gene: CC2D2A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045437
rs797045437
CC2D2A
T 0.700 CausalMutation CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778

2016
dbSNP: rs201502401
rs201502401
CC2D2A
T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs201502401
rs201502401
CC2D2A
T 0.700 CausalMutation CLINVAR Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546

2015
dbSNP: rs370880399
rs370880399
CC2D2A
T 0.700 CausalMutation CLINVAR Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs. 27082236

2015
dbSNP: rs370880399
rs370880399
CC2D2A
T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs386833759
rs386833759
CC2D2A
C 0.700 GeneticVariation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs386833760
rs386833760
CC2D2A
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs201502401
rs201502401
CC2D2A
T 0.700 CausalMutation CLINVAR Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360

2012
dbSNP: rs201502401
rs201502401
CC2D2A
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. 22241855

2012
dbSNP: rs201502401
rs201502401
CC2D2A
T 0.700 CausalMutation CLINVAR Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439

2012
dbSNP: rs370880399
rs370880399
CC2D2A
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. 22241855

2012
dbSNP: rs386833751
rs386833751
CC2D2A
A 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. 22241855

2012
dbSNP: rs386833750
rs386833750
CC2D2A
T 0.700 CausalMutation CLINVAR Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010
dbSNP: rs200407856
rs200407856
CC2D2A
A 0.700 CausalMutation CLINVAR CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 19777577

2009
dbSNP: rs201502401
rs201502401
CC2D2A
T 0.700 CausalMutation CLINVAR CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 19777577

2009
dbSNP: rs386833750
rs386833750
CC2D2A
T 0.700 CausalMutation CLINVAR CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 19777577

2009
dbSNP: rs386833759
rs386833759
CC2D2A
C 0.700 GeneticVariation CLINVAR Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? 19466712

2009
dbSNP: rs386833760
rs386833760
CC2D2A
A 0.700 CausalMutation CLINVAR CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 19777577

2009
dbSNP: rs370880399
rs370880399
CC2D2A
T 0.700 CausalMutation CLINVAR CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 18950740

2008
dbSNP: rs386833751
rs386833751
CC2D2A
A 0.700 CausalMutation CLINVAR CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 18950740

2008
dbSNP: rs368720062
rs368720062
CC2D2A
C 0.700 GeneticVariation CLINVAR

dbSNP: rs377177061
rs377177061
CC2D2A
T 0.700 CausalMutation CLINVAR

dbSNP: rs587779732
rs587779732
CC2D2A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs757208121
rs757208121
CC2D2A
T 0.700 CausalMutation CLINVAR

dbSNP: rs758036385
rs758036385
CC2D2A
T 0.700 CausalMutation CLINVAR