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ZNF57

Synonyms
ZNF424
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
29
Likely pathogenic
9
VUS
5,697
Likely benign
66
Benign
0

Patient phenotypes

Proportions of phenotypes among 38 patients carring pathogenic or likely pathogenic variants on ZNF57 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
63.2%
Abnormality of the musculoskeletal system
52.6%
Abnormality of head or neck
42.1%
Abnormality of the eye
26.3%
Growth abnormality
23.7%
Abnormality of the ear
18.4%
Abnormality of the integument
15.8%
Abnormality of limbs
13.2%
Abnormality of the cardiovascular system
10.5%
Abnormality of the digestive system
7.9%
Abnormality of the genitourinary system
7.9%
Abnormality of the endocrine system
5.3%
Abnormality of the immune system
5.3%
Abnormality of the respiratory system
5.3%
Abnormality of prenatal development or birth
2.6%
Abnormality of the breast
2.6%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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