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ZSWIM1

Synonyms
C20orf162
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
19
Likely pathogenic
413
VUS
3,024
Likely benign
158
Benign
0

Patient phenotypes

Proportions of phenotypes among 432 patients carring pathogenic or likely pathogenic variants on ZSWIM1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.7%
Abnormality of the musculoskeletal system
28.5%
Abnormality of head or neck
21.5%
Abnormality of the eye
20.6%
Abnormality of the cardiovascular system
16.4%
Abnormality of the ear
14.1%
Growth abnormality
12.7%
Abnormality of the genitourinary system
11.1%
Abnormality of limbs
9.3%
Abnormality of the immune system
7.4%
Abnormality of the integument
7.2%
Abnormality of blood and blood-forming tissues
6.3%
Abnormality of the digestive system
6.3%
Abnormality of the respiratory system
3.9%
Abnormality of the endocrine system
3.5%
Abnormality of prenatal development or birth
2.1%
Abnormality of the breast
1.2%
Neoplasm
0.9%
Abnormality of the voice
0.5%
Abnormal cellular phenotype
0.2%
Constitutional symptom
0.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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