CC2D2A Chromosome 4
Coiled-coil and C2 domain containing 2A
Upload your DNA to see your personal genotypes for variants in CC2D2A.
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 |
|---|---|---|---|
| RS199909714 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS199945435 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS200044412 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS200236654 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Joubert syndrome, Meckel-Gruber syndrome |
| RS200340261 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS200427832 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS200518703 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases |
| RS200645738 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 9 |
| RS200764366 | Health Risk | Conflicting classifications of pathogenicity | COACH syndrome 1, Joubert syndrome 9, Meckel syndrome |
| RS201439617 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS201465430 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel syndrome |
| RS201884883 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS201946793 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, CC2D2A-related disorder |
| RS201954181 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS202150325 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS267606709 | Health Risk | Conflicting classifications of pathogenicity | COACH syndrome 2, Joubert syndrome 9, Joubert syndrome |
| RS367560550 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases |
| RS367841700 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, CC2D2A-related disorder |
| RS368116362 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder |
| RS368572539 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS368669579 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 9 |
| RS368720062 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Meckel syndrome, type 6 |
| RS368886216 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS369001837 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Inborn genetic diseases |
| RS369022150 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, CC2D2A-related disorder |
| RS369305472 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Inborn genetic diseases |
| RS369398469 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS369476930 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS369648324 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, CC2D2A-related disorder, Meckel syndrome |
| RS369902469 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases |
| RS370146822 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS370492044 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS371086728 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS371608031 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS371834330 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS371868705 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS372259202 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS372292129 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS372671421 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS373012628 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS373296447 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS373742688 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS373960465 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS374554530 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 9 |
| RS375131519 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, CC2D2A-related disorder |
| RS375243763 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, COACH syndrome 1 |
| RS375247004 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 9 |
| RS375278294 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS375782772 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS376312792 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |