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CNPY3

Synonyms
CAG4A, DEE60, EIEE60, ERDA5, PRAT4A, TNRC5
External resources
Summary
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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
10
Likely pathogenic
1
VUS
1,153
Likely benign
134
Benign
0

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on CNPY3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
63.6%
Abnormality of head or neck
45.5%
Abnormality of the musculoskeletal system
45.5%
Abnormality of the eye
36.4%
Abnormality of the cardiovascular system
18.2%
Abnormality of the ear
18.2%
Growth abnormality
18.2%
Abnormality of limbs
9.1%
Abnormality of the breast
9.1%
Abnormality of the digestive system
9.1%
Abnormality of the immune system
9.1%
Abnormality of the respiratory system
9.1%
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 endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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