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ZNF223

Synonyms
-
External resources
Summary
This gene encodes a protein containing a Kruppel-associated box domain and multiple zinc finger domains. The function of this protein has yet to be determined.

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
114
Likely pathogenic
47
VUS
3,846
Likely benign
268
Benign
0

Patient Phenotypes

Proportions of phenotypes among 161 patients carrying pathogenic or likely pathogenic variants on ZNF223 gene are displayed below. The following symptoms were found in patients with a variant in ZNF223. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.9%
Abnormality of the musculoskeletal system
33.5%
Abnormality of head or neck
22.4%
Abnormality of the eye
21.7%
Growth abnormality
18%
Abnormality of the ear
17.4%
Abnormality of limbs
10.6%
Abnormality of the cardiovascular system
9.3%
Abnormality of the integument
8.7%
Abnormality of metabolism homeostasis
7.5%
Abnormality of the genitourinary system
7.5%
Abnormality of the immune system
6.8%
Abnormality of blood and blood forming tissues
6.2%
Abnormality of the digestive system
5.6%
Abnormality of prenatal development or birth
2.5%
Abnormality of the endocrine system
1.9%
Abnormality of the respiratory system
1.9%
Abnormality of the voice
0.6%
Neoplasm
0.6%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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