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CPEB3

Synonyms
-
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
24
Likely pathogenic
0
VUS
2,634
Likely benign
79
Benign
0

Patient phenotypes

Proportions of phenotypes among 20 patients carring pathogenic or likely pathogenic variants on CPEB3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45%
Abnormality of head or neck
25%
Abnormality of the musculoskeletal system
20%
Abnormality of the eye
15%
Growth abnormality
15%
Abnormality of the cardiovascular system
10%
Abnormality of limbs
5%
Abnormality of the digestive system
5%
Abnormality of the ear
5%
Abnormality of the endocrine system
5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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