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ZSWIM6

Synonyms
AFND, NEDMAGA
External resources
Summary
The protein encoded by this gene contains a zinc finger SWI2/SNF2 and MuDR (SWIM) domain. Proteins with SWIM domains have been found in a diverse number of species and are predicted to interact with DNA or proteins. Mutations in this gene result in acromelic frontonasal dysostosis.

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
77
Likely pathogenic
2
VUS
1,471
Likely benign
9,250
Benign
3,513

Patient phenotypes

Proportions of phenotypes among 65 patients carring pathogenic or likely pathogenic variants on ZSWIM6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.1%
Abnormality of the musculoskeletal system
27.7%
Abnormality of head or neck
23.1%
Abnormality of the eye
23.1%
Abnormality of the cardiovascular system
18.5%
Growth abnormality
16.9%
Abnormality of the ear
13.8%
Abnormality of the genitourinary system
13.8%
Abnormality of limbs
10.8%
Abnormality of the integument
9.2%
Abnormality of the digestive system
6.2%
Abnormality of the endocrine system
3.1%
Neoplasm
3.1%
Abnormality of blood and blood-forming tissues
1.5%
Abnormality of prenatal development or birth
1.5%
Abnormality of the breast
1.5%
Abnormality of the respiratory system
1.5%
Abnormality of the voice
1.5%
Constitutional symptom
1.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%

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