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USP49

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
3
Likely pathogenic
61
VUS
1,907
Likely benign
25
Benign
0

Patient Phenotypes

Proportions of phenotypes among 62 patients carrying pathogenic or likely pathogenic variants on USP49 gene are displayed below. The following symptoms were found in patients with a variant in USP49. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
48.4%
Abnormality of the musculoskeletal system
30.6%
Abnormality of the eye
25.8%
Abnormality of head or neck
24.2%
Abnormality of limbs
14.5%
Abnormality of the ear
14.5%
Abnormality of the immune system
14.5%
Abnormality of the integument
14.5%
Growth abnormality
11.3%
Abnormality of blood and blood forming tissues
8.1%
Abnormality of the digestive system
8.1%
Abnormality of the genitourinary system
8.1%
Abnormality of the cardiovascular system
6.5%
Abnormality of metabolism homeostasis
4.8%
Constitutional symptom
4.8%
Abnormality of prenatal development or birth
3.2%
Abnormal cellular phenotype
1.6%
Abnormality of the endocrine system
1.6%
Abnormality of the respiratory system
1.6%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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