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TMEM52B

Synonyms
C12orf59
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
32
Likely pathogenic
0
VUS
930
Likely benign
768
Benign
0

Patient phenotypes

Proportions of phenotypes among 32 patients carring pathogenic or likely pathogenic variants on TMEM52B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.5%
Abnormality of the cardiovascular system
28.1%
Abnormality of the musculoskeletal system
21.9%
Abnormality of head or neck
18.8%
Abnormality of the ear
18.8%
Growth abnormality
15.6%
Abnormality of the immune system
12.5%
Abnormality of the digestive system
9.4%
Abnormality of the endocrine system
9.4%
Abnormality of the eye
9.4%
Abnormality of the genitourinary system
9.4%
Abnormality of blood and blood-forming tissues
6.3%
Abnormality of the integument
6.3%
Abnormality of the respiratory system
6.3%
Constitutional symptom
6.3%
Abnormality of limbs
3.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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