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BFAR

Synonyms
BAR, RNF47
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
52
Likely pathogenic
1
VUS
7,088
Likely benign
4,276
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
56.6%
Abnormality of the musculoskeletal system
45.3%
Abnormality of head or neck
43.4%
Abnormality of the integument
32.1%
Growth abnormality
24.5%
Abnormality of limbs
22.6%
Abnormality of the eye
22.6%
Abnormality of the digestive system
18.9%
Abnormality of the genitourinary system
17%
Abnormality of the cardiovascular system
15.1%
Abnormality of the immune system
13.2%
Abnormality of the respiratory system
13.2%
Abnormality of the ear
11.3%
Abnormality of blood and blood-forming tissues
7.5%
Abnormality of the endocrine system
7.5%
Constitutional symptom
3.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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