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USP6

Synonyms
HRP1, TRE17, TRE2, TRESMCR, Tre-2, USP6-short
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
86
Likely pathogenic
9
VUS
59,914
Likely benign
13,556
Benign
0

Patient Phenotypes

Proportions of phenotypes among 95 patients carrying pathogenic or likely pathogenic variants on USP6 gene are displayed below. The following symptoms were found in patients with a variant in USP6. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.9%
Abnormality of the eye
30.5%
Abnormality of the musculoskeletal system
27.4%
Abnormality of head or neck
18.9%
Abnormality of the cardiovascular system
12.6%
Abnormality of the integument
12.6%
Abnormality of the ear
11.6%
Growth abnormality
11.6%
Abnormality of the immune system
10.5%
Abnormality of limbs
9.5%
Abnormality of blood and blood forming tissues
7.4%
Abnormality of the genitourinary system
7.4%
Abnormality of the digestive system
6.3%
Abnormality of metabolism homeostasis
5.3%
Abnormality of the respiratory system
5.3%
Neoplasm
5.3%
Abnormality of the endocrine system
4.2%
Abnormality of prenatal development or birth
3.2%
Abnormal cellular phenotype
2.1%
Abnormality of the breast
1.1%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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