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TMPRSS7

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
111
Likely pathogenic
684
VUS
5,364
Likely benign
450
Benign
0

Patient Phenotypes

Proportions of phenotypes among 791 patients carrying pathogenic or likely pathogenic variants on TMPRSS7 gene are displayed below. The following symptoms were found in patients with a variant in TMPRSS7. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.8%
Abnormality of the musculoskeletal system
27.1%
Abnormality of head or neck
20.9%
Abnormality of the cardiovascular system
20.9%
Abnormality of the ear
15.8%
Growth abnormality
14.2%
Abnormality of the eye
12.8%
Abnormality of the genitourinary system
11.6%
Abnormality of limbs
7.6%
Abnormality of the integument
7.1%
Abnormality of metabolism homeostasis
6.8%
Abnormality of the digestive system
6.2%
Abnormality of blood and blood forming tissues
5.7%
Abnormality of the immune system
5.7%
Abnormality of the endocrine system
4.2%
Abnormality of prenatal development or birth
3.5%
Abnormality of the respiratory system
3.4%
Neoplasm
2.4%
Constitutional symptom
0.4%
Abnormal cellular phenotype
0.1%
Abnormality of the thoracic cavity
0.1%
Abnormality of the breast
0%
Abnormality of the voice
0%

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