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ZNF716

Synonyms
-
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
23
Likely pathogenic
79
VUS
1,376
Likely benign
203
Benign
0

Patient phenotypes

Proportions of phenotypes among 101 patients carring pathogenic or likely pathogenic variants on ZNF716 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.6%
Abnormality of the musculoskeletal system
27.7%
Abnormality of head or neck
23.8%
Abnormality of the cardiovascular system
23.8%
Abnormality of the eye
20.8%
Abnormality of the genitourinary system
11.9%
Abnormality of the ear
10.9%
Growth abnormality
10.9%
Abnormality of limbs
8.9%
Abnormality of the integument
8.9%
Abnormality of blood and blood-forming tissues
6.9%
Abnormality of the digestive system
5%
Abnormality of the immune system
5%
Abnormality of the respiratory system
5%
Abnormality of prenatal development or birth
3%
Abnormality of the endocrine system
3%
Constitutional symptom
2%
Neoplasm
2%
Abnormal cellular phenotype
1%
Abnormality of the breast
1%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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