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VWA5A

Synonyms
BCSC-1, BCSC1, LOH11CR2A
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
97
Likely pathogenic
0
VUS
5,064
Likely benign
5,832
Benign
0

Patient Phenotypes

Proportions of phenotypes among 97 patients carrying pathogenic or likely pathogenic variants on VWA5A gene are displayed below. The following symptoms were found in patients with a variant in VWA5A. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.3%
Abnormality of the cardiovascular system
25.8%
Abnormality of the musculoskeletal system
23.7%
Abnormality of head or neck
19.6%
Abnormality of the ear
18.6%
Growth abnormality
14.4%
Abnormality of limbs
12.4%
Abnormality of the eye
12.4%
Abnormality of blood and blood forming tissues
8.2%
Abnormality of the digestive system
8.2%
Abnormality of the genitourinary system
8.2%
Abnormality of the immune system
8.2%
Abnormality of the integument
8.2%
Abnormality of the endocrine system
6.2%
Abnormality of metabolism homeostasis
5.2%
Abnormality of prenatal development or birth
5.2%
Abnormality of the respiratory system
5.2%
Neoplasm
4.1%
Abnormal cellular phenotype
1%
Abnormality of the thoracic cavity
1%
Abnormality of the breast
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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