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ASB15

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
29
Likely pathogenic
157
VUS
2,042
Likely benign
160
Benign
0

Patient phenotypes

Proportions of phenotypes among 186 patients carring pathogenic or likely pathogenic variants on ASB15 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.4%
Abnormality of the eye
36%
Abnormality of the musculoskeletal system
26.3%
Abnormality of head or neck
17.7%
Abnormality of limbs
15.6%
Growth abnormality
15.6%
Abnormality of the integument
10.8%
Abnormality of the ear
9.1%
Abnormality of blood and blood-forming tissues
8.1%
Abnormality of the immune system
8.1%
Abnormality of the cardiovascular system
7.5%
Abnormality of the digestive system
7.5%
Abnormality of the genitourinary system
7.5%
Abnormality of the respiratory system
3.2%
Abnormality of prenatal development or birth
2.7%
Constitutional symptom
2.7%
Abnormality of the endocrine system
2.2%
Neoplasm
2.2%
Abnormal cellular phenotype
1.6%
Abnormality of the breast
0.5%
Abnormality of the voice
0.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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