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ZSCAN32

Synonyms
HCCS-5, ZNF434
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
51
Likely pathogenic
1
VUS
4,013
Likely benign
32
Benign
0

Patient Phenotypes

Proportions of phenotypes among 52 patients carrying pathogenic or likely pathogenic variants on ZSCAN32 gene are displayed below. The following symptoms were found in patients with a variant in ZSCAN32. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
38.5%
Abnormality of the nervous system
30.8%
Abnormality of the integument
26.9%
Abnormality of head or neck
23.1%
Abnormality of the cardiovascular system
19.2%
Abnormality of the eye
19.2%
Abnormality of the ear
15.4%
Abnormality of blood and blood forming tissues
13.5%
Abnormality of limbs
13.5%
Abnormality of the digestive system
11.5%
Abnormality of the genitourinary system
11.5%
Abnormality of the immune system
9.6%
Abnormality of metabolism homeostasis
7.7%
Abnormality of the endocrine system
7.7%
Abnormality of the respiratory system
7.7%
Neoplasm
7.7%
Growth abnormality
5.8%
Constitutional symptom
3.8%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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