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AGBL2

Synonyms
CCP2
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
23
Likely pathogenic
127
VUS
5,941
Likely benign
284
Benign
0

Patient phenotypes

Proportions of phenotypes among 150 patients carring pathogenic or likely pathogenic variants on AGBL2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.7%
Abnormality of the musculoskeletal system
31.3%
Abnormality of head or neck
23.3%
Abnormality of the eye
17.3%
Abnormality of the cardiovascular system
16.7%
Growth abnormality
15.3%
Abnormality of the ear
14%
Abnormality of the integument
11.3%
Abnormality of limbs
10.7%
Abnormality of the genitourinary system
10.7%
Abnormality of the digestive system
9.3%
Abnormality of blood and blood-forming tissues
7.3%
Abnormality of the immune system
5.3%
Abnormality of the endocrine system
4%
Abnormality of prenatal development or birth
2%
Abnormality of the breast
2%
Abnormality of the respiratory system
2%
Neoplasm
2%
Constitutional symptom
1.3%
Abnormal cellular phenotype
0.7%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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