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AGBL3

Synonyms
CCP3
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
54
Likely pathogenic
0
VUS
2,565
Likely benign
635
Benign
0

Patient phenotypes

Proportions of phenotypes among 53 patients carring pathogenic or likely pathogenic variants on AGBL3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.6%
Abnormality of head or neck
24.5%
Abnormality of the eye
22.6%
Abnormality of the musculoskeletal system
17%
Abnormality of the cardiovascular system
11.3%
Abnormality of the ear
9.4%
Growth abnormality
9.4%
Abnormality of blood and blood-forming tissues
5.7%
Abnormality of the endocrine system
5.7%
Abnormality of the genitourinary system
5.7%
Abnormality of the immune system
5.7%
Abnormality of limbs
3.8%
Abnormality of the digestive system
3.8%
Abnormality of prenatal development or birth
1.9%
Abnormality of the integument
1.9%
Abnormality of the respiratory system
1.9%
Neoplasm
1.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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