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ZNF229

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
39
Likely pathogenic
36
VUS
1,935
Likely benign
152
Benign
0

Patient Phenotypes

Proportions of phenotypes among 74 patients carrying pathogenic or likely pathogenic variants on ZNF229 gene are displayed below. The following symptoms were found in patients with a variant in ZNF229. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.8%
Abnormality of the eye
36.5%
Abnormality of the ear
20.3%
Abnormality of the musculoskeletal system
16.2%
Abnormality of the genitourinary system
13.5%
Abnormality of the integument
10.8%
Abnormality of limbs
9.5%
Growth abnormality
9.5%
Abnormality of head or neck
8.1%
Abnormality of the cardiovascular system
5.4%
Abnormality of the digestive system
5.4%
Abnormality of the immune system
5.4%
Abnormality of metabolism homeostasis
4.1%
Abnormality of the endocrine system
2.7%
Abnormality of the respiratory system
2.7%
Abnormality of the voice
2.7%
Abnormality of blood and blood forming tissues
1.4%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

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