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BEX3

Synonyms
Bex, DXS6984E, HGR74, NADE, NGFRAP1
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
83
Likely pathogenic
0
VUS
121
Likely benign
8
Benign
0

Patient phenotypes

Proportions of phenotypes among 83 patients carring pathogenic or likely pathogenic variants on BEX3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.6%
Abnormality of the musculoskeletal system
39.8%
Abnormality of head or neck
33.7%
Abnormality of the eye
30.1%
Abnormality of the cardiovascular system
19.3%
Abnormality of the ear
19.3%
Abnormality of the genitourinary system
18.1%
Growth abnormality
14.5%
Abnormality of limbs
12%
Abnormality of the integument
10.8%
Abnormality of the immune system
7.2%
Abnormality of blood and blood-forming tissues
6%
Abnormality of the respiratory system
6%
Abnormality of the digestive system
4.8%
Neoplasm
4.8%
Abnormality of prenatal development or birth
3.6%
Constitutional symptom
3.6%
Abnormality of the breast
2.4%
Abnormality of the endocrine system
2.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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