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ZNF718

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
57
VUS
1,688
Likely benign
36
Benign
0

Patient phenotypes

Proportions of phenotypes among 84 patients carring pathogenic or likely pathogenic variants on ZNF718 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44%
Abnormality of the musculoskeletal system
42.9%
Abnormality of the eye
32.1%
Abnormality of head or neck
29.8%
Abnormality of the ear
19%
Abnormality of limbs
17.9%
Abnormality of the genitourinary system
15.5%
Abnormality of the integument
15.5%
Growth abnormality
14.3%
Abnormality of the cardiovascular system
13.1%
Abnormality of the digestive system
7.1%
Abnormality of the immune system
7.1%
Abnormality of blood and blood-forming tissues
6%
Abnormality of prenatal development or birth
4.8%
Abnormality of the endocrine system
2.4%
Neoplasm
2.4%
Abnormal cellular phenotype
1.2%
Abnormality of the breast
1.2%
Abnormality of the respiratory system
1.2%
Abnormality of the voice
1.2%
Constitutional symptom
1.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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