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ZNF446

Synonyms
ZKSCAN20, ZSCAN30, ZSCAN52
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
41
Likely pathogenic
0
VUS
1,963
Likely benign
131
Benign
0

Patient Phenotypes

Proportions of phenotypes among 41 patients carrying pathogenic or likely pathogenic variants on ZNF446 gene are displayed below. The following symptoms were found in patients with a variant in ZNF446. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.5%
Abnormality of head or neck
24.4%
Abnormality of the musculoskeletal system
24.4%
Abnormality of the cardiovascular system
19.5%
Growth abnormality
19.5%
Abnormality of the eye
17.1%
Abnormality of the ear
14.6%
Abnormality of the genitourinary system
14.6%
Abnormality of blood and blood forming tissues
9.8%
Abnormality of limbs
9.8%
Abnormality of the digestive system
9.8%
Abnormality of the immune system
9.8%
Abnormality of metabolism homeostasis
7.3%
Abnormality of the endocrine system
4.9%
Abnormality of the integument
4.9%
Neoplasm
2.4%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
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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