Home > Gene Browser > CCDC178

CCDC178

Synonyms
C18orf34
External resources

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
44
Likely pathogenic
156
VUS
4,749
Likely benign
417
Benign
0

Patient phenotypes

Proportions of phenotypes among 198 patients carring pathogenic or likely pathogenic variants on CCDC178 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.4%
Abnormality of the musculoskeletal system
28.8%
Abnormality of the eye
23.2%
Abnormality of head or neck
22.7%
Abnormality of the cardiovascular system
18.7%
Abnormality of the integument
13.6%
Growth abnormality
13.6%
Abnormality of the ear
13.1%
Abnormality of limbs
10.6%
Abnormality of the genitourinary system
9.1%
Abnormality of the immune system
6.1%
Abnormality of the digestive system
5.6%
Abnormality of the endocrine system
5.6%
Abnormality of prenatal development or birth
5.1%
Abnormality of blood and blood-forming tissues
4.5%
Abnormality of the respiratory system
4%
Neoplasm
3%
Abnormality of the breast
0.5%
Abnormality of the voice
0.5%
Constitutional symptom
0.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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