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ZSCAN1

Synonyms
MZF-1, ZNF915
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
54
Likely pathogenic
61
VUS
1,609
Likely benign
33
Benign
0

Patient phenotypes

Proportions of phenotypes among 107 patients carring pathogenic or likely pathogenic variants on ZSCAN1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
43%
Abnormality of the nervous system
31.8%
Abnormality of the musculoskeletal system
29.9%
Abnormality of head or neck
16.8%
Abnormality of the ear
14%
Abnormality of limbs
12.1%
Abnormality of the cardiovascular system
10.3%
Abnormality of the integument
10.3%
Growth abnormality
10.3%
Abnormality of the genitourinary system
7.5%
Abnormality of the digestive system
4.7%
Abnormality of the endocrine system
3.7%
Abnormality of the immune system
3.7%
Constitutional symptom
2.8%
Abnormality of blood and blood-forming tissues
1.9%
Abnormality of the voice
1.9%
Abnormal cellular phenotype
0.9%
Abnormality of prenatal development or birth
0.9%
Abnormality of the breast
0.9%
Abnormality of the respiratory system
0.9%
Neoplasm
0.9%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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