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CD33

Synonyms
SIGLEC-3, SIGLEC3, p67
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
17
Likely pathogenic
369
VUS
1,661
Likely benign
153
Benign
0

Patient phenotypes

Proportions of phenotypes among 385 patients carring pathogenic or likely pathogenic variants on CD33 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.7%
Abnormality of the musculoskeletal system
28.8%
Abnormality of head or neck
21%
Abnormality of the cardiovascular system
19%
Abnormality of the eye
16.6%
Abnormality of the ear
15.8%
Growth abnormality
14.5%
Abnormality of the integument
9.4%
Abnormality of limbs
8.8%
Abnormality of the immune system
7.5%
Abnormality of the genitourinary system
7%
Abnormality of the digestive system
6.8%
Abnormality of the endocrine system
4.4%
Abnormality of blood and blood-forming tissues
3.6%
Abnormality of prenatal development or birth
2.6%
Constitutional symptom
2.6%
Abnormality of the respiratory system
2.3%
Neoplasm
2.3%
Abnormal cellular phenotype
1.3%
Abnormality of the breast
0.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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