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DCST2

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
16
Likely pathogenic
313
VUS
5,486
Likely benign
92
Benign
0

Patient phenotypes

Proportions of phenotypes among 328 patients carring pathogenic or likely pathogenic variants on DCST2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39%
Abnormality of the musculoskeletal system
26.2%
Abnormality of the cardiovascular system
22.9%
Abnormality of head or neck
19.2%
Abnormality of the ear
17.1%
Growth abnormality
14%
Abnormality of the eye
13.7%
Abnormality of the genitourinary system
8.8%
Abnormality of limbs
7.9%
Abnormality of the integument
7.3%
Abnormality of blood and blood-forming tissues
5.8%
Abnormality of the digestive system
5.2%
Abnormality of the immune system
5.2%
Abnormality of the endocrine system
3.4%
Abnormality of prenatal development or birth
2.4%
Abnormality of the respiratory system
2.4%
Neoplasm
2.4%
Constitutional symptom
0.9%
Abnormal cellular phenotype
0.6%
Abnormality of the breast
0.3%
Abnormality of the voice
0.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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