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VOPP1

Synonyms
ECOP, GASP, WBP1L2
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
21
Likely pathogenic
0
VUS
3,235
Likely benign
614
Benign
0

Patient phenotypes

Proportions of phenotypes among 21 patients carring pathogenic or likely pathogenic variants on VOPP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
42.9%
Abnormality of the nervous system
33.3%
Abnormality of limbs
28.6%
Abnormality of head or neck
19%
Abnormality of the eye
19%
Abnormality of the cardiovascular system
9.5%
Abnormality of the digestive system
9.5%
Abnormality of the ear
9.5%
Abnormality of the respiratory system
9.5%
Abnormal cellular phenotype
4.8%
Abnormality of blood and blood-forming tissues
4.8%
Abnormality of the breast
4.8%
Abnormality of the endocrine system
4.8%
Abnormality of the genitourinary system
4.8%
Abnormality of the immune system
4.8%
Abnormality of the integument
4.8%
Constitutional symptom
4.8%
Growth abnormality
4.8%
Neoplasm
4.8%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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