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ZNF729

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
36
Likely pathogenic
185
VUS
2,350
Likely benign
236
Benign
0

Patient Phenotypes

Proportions of phenotypes among 131 patients carrying pathogenic or likely pathogenic variants on ZNF729 gene are displayed below. The following symptoms were found in patients with a variant in ZNF729. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.1%
Abnormality of the eye
16.8%
Abnormality of the musculoskeletal system
16.8%
Abnormality of the ear
14.5%
Abnormality of head or neck
13%
Abnormality of the cardiovascular system
9.9%
Abnormality of blood and blood forming tissues
8.4%
Growth abnormality
6.1%
Abnormality of limbs
5.3%
Abnormality of the immune system
5.3%
Abnormality of the integument
5.3%
Abnormality of metabolism homeostasis
3.8%
Abnormality of the genitourinary system
3.8%
Abnormality of the digestive system
2.3%
Abnormality of the endocrine system
1.5%
Abnormality of prenatal development or birth
0.8%
Constitutional symptom
0.8%
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%
Neoplasm
0%

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