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TEX37

Synonyms
C2orf51, TSC21
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
4
Likely pathogenic
23
VUS
639
Likely benign
113
Benign
0

Patient phenotypes

Proportions of phenotypes among 27 patients carring pathogenic or likely pathogenic variants on TEX37 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.4%
Abnormality of head or neck
33.3%
Abnormality of the eye
33.3%
Abnormality of the musculoskeletal system
33.3%
Growth abnormality
29.6%
Abnormality of the integument
22.2%
Abnormality of the ear
18.5%
Abnormality of limbs
11.1%
Abnormality of the cardiovascular system
11.1%
Abnormality of prenatal development or birth
7.4%
Abnormality of the digestive system
7.4%
Abnormality of the genitourinary system
7.4%
Abnormality of the endocrine system
3.7%
Abnormality of the immune system
3.7%
Constitutional symptom
3.7%
Neoplasm
3.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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