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ZSWIM7

Synonyms
SWS1
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
40
Likely pathogenic
12
VUS
1,265
Likely benign
23
Benign
0

Patient phenotypes

Proportions of phenotypes among 52 patients carring pathogenic or likely pathogenic variants on ZSWIM7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
38.5%
Abnormality of the nervous system
36.5%
Abnormality of head or neck
34.6%
Growth abnormality
28.8%
Abnormality of the cardiovascular system
19.2%
Abnormality of the eye
17.3%
Abnormality of the ear
13.5%
Abnormality of limbs
11.5%
Abnormality of the digestive system
11.5%
Abnormality of blood and blood-forming tissues
9.6%
Abnormality of the integument
9.6%
Abnormality of the genitourinary system
5.8%
Abnormality of the immune system
5.8%
Abnormality of the respiratory system
5.8%
Abnormality of prenatal development or birth
3.8%
Neoplasm
3.8%
Abnormality of the breast
1.9%
Abnormality of the voice
1.9%
Constitutional symptom
1.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%

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