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BPIFC

Synonyms
BPIL2
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
18
Likely pathogenic
214
VUS
12,445
Likely benign
1,122
Benign
0

Patient phenotypes

Proportions of phenotypes among 231 patients carring pathogenic or likely pathogenic variants on BPIFC gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.4%
Abnormality of the musculoskeletal system
32.5%
Abnormality of head or neck
25.1%
Abnormality of the cardiovascular system
17.3%
Growth abnormality
16.9%
Abnormality of the eye
14.7%
Abnormality of the ear
13.9%
Abnormality of the genitourinary system
11.3%
Abnormality of limbs
9.5%
Abnormality of the digestive system
7.8%
Abnormality of the integument
7.4%
Abnormality of the endocrine system
6.1%
Abnormality of the respiratory system
5.2%
Abnormality of the immune system
4.3%
Abnormality of prenatal development or birth
3.9%
Abnormality of blood and blood-forming tissues
2.6%
Constitutional symptom
0.4%
Neoplasm
0.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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