Gene: CC2D2A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553845569
rs1553845569
CC2D2A
G 0.700 GeneticVariation CLINVAR Novel CC2D2A compound heterozygous mutations cause Joubert syndrome. 27959436

2017
dbSNP: rs794729225
rs794729225
CC2D2A
T 0.700 GeneticVariation CLINVAR Novel CC2D2A compound heterozygous mutations cause Joubert syndrome. 27959436

2017
dbSNP: rs1553845569
rs1553845569
CC2D2A
G 0.700 GeneticVariation CLINVAR Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. 26729329

2016
dbSNP: rs794729225
rs794729225
CC2D2A
T 0.700 GeneticVariation CLINVAR Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. 26729329

2016
dbSNP: rs1553845569
rs1553845569
CC2D2A
G 0.700 GeneticVariation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs794729225
rs794729225
CC2D2A
T 0.700 GeneticVariation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs1553845569
rs1553845569
CC2D2A
G 0.700 GeneticVariation CLINVAR Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010
dbSNP: rs794729225
rs794729225
CC2D2A
T 0.700 GeneticVariation CLINVAR Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010
dbSNP: rs1553845569
rs1553845569
CC2D2A
G 0.700 GeneticVariation CLINVAR MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 19058225

2009
dbSNP: rs1553845569
rs1553845569
CC2D2A
G 0.700 GeneticVariation CLINVAR CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 19777577

2009
dbSNP: rs794729225
rs794729225
CC2D2A
T 0.700 GeneticVariation CLINVAR MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 19058225

2009
dbSNP: rs794729225
rs794729225
CC2D2A
T 0.700 GeneticVariation CLINVAR CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 19777577

2009