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ZNF442

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
25
Likely pathogenic
49
VUS
1,377
Likely benign
18
Benign
0

Patient Phenotypes

Proportions of phenotypes among 74 patients carrying pathogenic or likely pathogenic variants on ZNF442 gene are displayed below. The following symptoms were found in patients with a variant in ZNF442. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.2%
Abnormality of the musculoskeletal system
32.4%
Abnormality of the eye
24.3%
Abnormality of head or neck
21.6%
Abnormality of the ear
21.6%
Growth abnormality
20.3%
Abnormality of the cardiovascular system
16.2%
Abnormality of limbs
14.9%
Abnormality of the genitourinary system
13.5%
Abnormality of metabolism homeostasis
8.1%
Abnormality of the integument
8.1%
Abnormality of prenatal development or birth
6.8%
Abnormality of the immune system
5.4%
Abnormality of blood and blood forming tissues
4.1%
Abnormality of the digestive system
4.1%
Abnormality of the endocrine system
4.1%
Abnormal cellular phenotype
2.7%
Abnormality of the respiratory system
2.7%
Abnormality of the breast
1.4%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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