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USP41

Synonyms
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External resources
Summary
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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
10
Likely pathogenic
29
VUS
9,333
Likely benign
2,028
Benign
0

Patient Phenotypes

Proportions of phenotypes among 37 patients carrying pathogenic or likely pathogenic variants on USP41 gene are displayed below. The following symptoms were found in patients with a variant in USP41. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.9%
Abnormality of the eye
43.2%
Abnormality of the musculoskeletal system
43.2%
Abnormality of head or neck
35.1%
Growth abnormality
27%
Abnormality of the integument
18.9%
Abnormality of limbs
16.2%
Abnormality of the cardiovascular system
13.5%
Abnormality of the immune system
13.5%
Abnormality of the ear
10.8%
Abnormality of the genitourinary system
10.8%
Abnormality of the digestive system
5.4%
Abnormality of the endocrine system
5.4%
Abnormal cellular phenotype
2.7%
Abnormality of metabolism homeostasis
2.7%
Abnormality of blood and blood forming tissues
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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