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AGBL2

Synonyms
CCP2
External resources
Summary
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Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
43
Likely pathogenic
181
VUS
5,061
Likely benign
1,785
Benign
0

Patient phenotypes

Proportions of phenotypes among 224 patients carrying pathogenic or likely pathogenic variants on AGBL2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.9%
Abnormality of the musculoskeletal system
31.3%
Abnormality of head or neck
22.3%
Abnormality of the cardiovascular system
19.6%
Abnormality of the eye
15.2%
Growth abnormality
15.2%
Abnormality of the ear
12.5%
Abnormality of the integument
12.1%
Abnormality of limbs
11.2%
Abnormality of the genitourinary system
8.9%
Abnormality of the digestive system
8.5%
Abnormality of blood and blood-forming tissues
5.8%
Abnormality of the immune system
5.8%
Abnormality of the endocrine system
2.7%
Abnormality of the respiratory system
2.7%
Abnormality of the breast
1.8%
Constitutional symptom
1.8%
Neoplasm
1.3%
Abnormal cellular phenotype
0.9%
Abnormality of prenatal development or birth
0.9%
Abnormality of the voice
0.4%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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