CCDC78 Chromosome 16
Coiled-coil domain containing 78
Upload your DNA to see your personal genotypes for variants in CCDC78.
What This Gene Does
Involved in de novo centriole assembly involved in multi-ciliated epithelial cell differentiation and skeletal muscle contraction. Located in several cellular components, including centriole; deuterosome; and sarcolemma. Implicated in centronuclear myopathy 4. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (4)
Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases
Centronuclear myopathy
CCDC78-related disorder
Key Variants
RS1320283995
Conflicting classifications of pathogenicity
Congenital myopathy with internal nuclei and atypical cores, Congenital myopathy with internal nuclei and atypical cores
Health Risk
RS141141442
Conflicting classifications of pathogenicity
Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores
Health Risk
RS142129985
Conflicting classifications of pathogenicity
Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores
Health Risk
RS142133229
Conflicting classifications of pathogenicity
Congenital myopathy with internal nuclei and atypical cores, Centronuclear myopathy, Congenital myopathy with internal nuclei and atypical cores
Health Risk
RS142180051
Conflicting classifications of pathogenicity
Congenital myopathy with internal nuclei and atypical cores, Congenital myopathy with internal nuclei and atypical cores
Health Risk
RS1432121366
Conflicting classifications of pathogenicity
Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores
Health Risk
RS144624081
Conflicting classifications of pathogenicity
Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores
Health Risk
RS144640928
Conflicting classifications of pathogenicity
Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores
Health Risk
RS145112523
Conflicting classifications of pathogenicity
Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores
Health Risk
RS145274257
Conflicting classifications of pathogenicity
Congenital myopathy with internal nuclei and atypical cores, CCDC78-related disorder, Inborn genetic diseases
Health Risk
RS145971446
Conflicting classifications of pathogenicity
Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores
Health Risk
RS147504073
Conflicting classifications of pathogenicity
Congenital myopathy with internal nuclei and atypical cores, Congenital myopathy with internal nuclei and atypical cores
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1320283995 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Congenital myopathy with internal nuclei and atypical cores |
| RS141141442 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS142129985 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS142133229 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Centronuclear myopathy, Congenital myopathy with internal nuclei and atypical cores |
| RS142180051 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Congenital myopathy with internal nuclei and atypical cores |
| RS1432121366 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS144624081 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS144640928 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS145112523 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS145274257 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, CCDC78-related disorder, Inborn genetic diseases |
| RS145971446 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS147504073 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Congenital myopathy with internal nuclei and atypical cores |
| RS147899031 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS148595483 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Congenital myopathy with internal nuclei and atypical cores |
| RS181469519 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS185369512 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200825023 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Centronuclear myopathy, Congenital myopathy with internal nuclei and atypical cores |
| RS201503907 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS201924732 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS368147684 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS369081589 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS370998388 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS371760552 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS376513788 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS560987339 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS745392382 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS749827376 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Congenital myopathy with internal nuclei and atypical cores |
| RS749951287 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Congenital myopathy with internal nuclei and atypical cores |
| RS751262117 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Centronuclear myopathy |
| RS752077571 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS754906673 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS760280521 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, CCDC78-related disorder, Inborn genetic diseases |
| RS763959604 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS769964986 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS770130604 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS771507948 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS775569629 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS776425669 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases, Congenital myopathy with internal nuclei and atypical cores |
| RS780197880 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy with internal nuclei and atypical cores, Congenital myopathy with internal nuclei and atypical cores |