CC2D2A Chromosome 4
Coiled-coil and C2 domain containing 2A
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What This Gene Does
This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
MKS complex
Locus Type
gene with protein product
Location
4p15.32
Ensembl
ENSG00000048342
Associated Conditions (35)
COACH syndrome 1
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome
type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93
Inborn genetic diseases
CC2D2A-related disorder
Congenital heart disease
Hepatocellular carcinoma
Microcephaly
Intellectual disability
Ciliopathy
Joubert syndrome 1
Retinal dystrophy
Optic atrophy
Joubert syndrome 9/15
digenic
+15 more conditions
Key Variants
RS1010285962
Conflicting classifications of pathogenicity
COACH syndrome 1, Meckel-Gruber syndrome, Joubert syndrome
Health Risk
RS1016233369
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 9
Health Risk
RS1052251029
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases
Health Risk
RS1064794798
Conflicting classifications of pathogenicity
Health Risk
RS113065116
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases
Health Risk
RS113371687
Conflicting classifications of pathogenicity
Joubert syndrome 9, Meckel syndrome, type 6
Health Risk
RS114387988
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder
Health Risk
RS115924432
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder
Health Risk
RS116198081
Conflicting classifications of pathogenicity
Meckel syndrome, type 6, Joubert syndrome 9
Health Risk
RS1167453314
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome
Health Risk
RS117667651
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome
Health Risk
RS118204051
Conflicting classifications of pathogenicity
Joubert syndrome 9, COACH syndrome 1, Meckel-Gruber syndrome
Health Risk
All Variants (437)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS376438052 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases |
| RS376644970 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS376746356 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS377188181 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases |
| RS377575861 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder |
| RS386833750 | Health Risk | Conflicting classifications of pathogenicity | COACH syndrome 2, Joubert syndrome 9/15, digenic |
| RS386833755 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Meckel-Gruber syndrome |
| RS387907058 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9/15, digenic, Meckel-Gruber syndrome |
| RS533830027 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Joubert syndrome, Meckel-Gruber syndrome |
| RS543650388 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS550913315 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS556542553 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, CC2D2A-related disorder |
| RS556931817 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Inborn genetic diseases |
| RS557038070 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS56265649 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases |
| RS570078140 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS576298659 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel-Gruber syndrome, Joubert syndrome |
| RS587779732 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 9 |
| RS61740537 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder |
| RS745699870 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases |
| RS745986665 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Inborn genetic diseases |
| RS748451478 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases |
| RS748886997 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS749549856 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS751646059 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases |
| RS753770061 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS754272410 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS755258233 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS755367503 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder |
| RS756341605 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, CC2D2A-related disorder |
| RS758339439 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases |
| RS758661538 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Inborn genetic diseases |
| RS759466798 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS759668652 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases |
| RS760099299 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases |
| RS760215716 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Inborn genetic diseases |
| RS760839591 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Inborn genetic diseases |
| RS760918829 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Joubert syndrome, Meckel-Gruber syndrome |
| RS762143074 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder |
| RS762297266 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel syndrome |
| RS762683334 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS762773515 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Inborn genetic diseases |
| RS763486732 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Joubert syndrome, Meckel-Gruber syndrome |
| RS763567590 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder |
| RS763596840 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 9 |
| RS764246302 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS765661601 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases |
| RS765810643 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel syndrome |
| RS765820512 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS765873247 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Meckel-Gruber syndrome |