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ZSWIM2

Synonyms
MEX, ZZZ2
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
53
Likely pathogenic
6
VUS
1,391
Likely benign
186
Benign
0

Patient phenotypes

Proportions of phenotypes among 59 patients carring pathogenic or likely pathogenic variants on ZSWIM2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
30.5%
Abnormality of the cardiovascular system
28.8%
Abnormality of the musculoskeletal system
23.7%
Abnormality of the eye
22%
Abnormality of head or neck
16.9%
Abnormality of the ear
16.9%
Abnormality of the genitourinary system
11.9%
Abnormality of limbs
8.5%
Abnormality of the digestive system
6.8%
Abnormality of the endocrine system
6.8%
Abnormality of the integument
6.8%
Growth abnormality
6.8%
Abnormality of blood and blood-forming tissues
5.1%
Abnormality of prenatal development or birth
5.1%
Neoplasm
5.1%
Abnormality of the immune system
3.4%
Abnormality of the respiratory system
1.7%
Constitutional symptom
1.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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