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ZNF528

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
10
Likely pathogenic
32
VUS
2,908
Likely benign
93
Benign
0

Patient Phenotypes

Proportions of phenotypes among 42 patients carrying pathogenic or likely pathogenic variants on ZNF528 gene are displayed below. The following symptoms were found in patients with a variant in ZNF528. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
47.6%
Abnormality of the nervous system
38.1%
Abnormality of the musculoskeletal system
26.2%
Abnormality of the ear
21.4%
Abnormality of the integument
19%
Abnormality of head or neck
14.3%
Abnormality of limbs
14.3%
Growth abnormality
14.3%
Abnormality of the digestive system
11.9%
Abnormality of blood and blood forming tissues
7.1%
Abnormality of the endocrine system
7.1%
Abnormality of the cardiovascular system
4.8%
Abnormality of metabolism homeostasis
2.4%
Abnormality of prenatal development or birth
2.4%
Abnormality of the genitourinary system
2.4%
Abnormality of the immune system
2.4%
Neoplasm
2.4%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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