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CCDC168

Synonyms
C13orf40
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
166
Likely pathogenic
1
VUS
6,692
Likely benign
585
Benign
0

Patient phenotypes

Proportions of phenotypes among 163 patients carring pathogenic or likely pathogenic variants on CCDC168 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
48.5%
Abnormality of the musculoskeletal system
36.2%
Abnormality of head or neck
27.6%
Abnormality of the eye
22.7%
Abnormality of the cardiovascular system
19%
Growth abnormality
17.2%
Abnormality of the ear
14.7%
Abnormality of the integument
14.7%
Abnormality of limbs
11%
Abnormality of the genitourinary system
9.8%
Abnormality of the digestive system
7.4%
Abnormality of the immune system
7.4%
Abnormality of the endocrine system
3.7%
Abnormality of prenatal development or birth
3.1%
Abnormality of the respiratory system
2.5%
Abnormality of blood and blood-forming tissues
1.8%
Constitutional symptom
1.2%
Abnormal cellular phenotype
0.6%
Abnormality of the voice
0.6%
Neoplasm
0.6%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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