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TMEM168

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
68
Likely pathogenic
0
VUS
1,548
Likely benign
688
Benign
0

Patient phenotypes

Proportions of phenotypes among 67 patients carring pathogenic or likely pathogenic variants on TMEM168 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.3%
Abnormality of the musculoskeletal system
28.4%
Abnormality of head or neck
22.4%
Abnormality of the cardiovascular system
19.4%
Abnormality of the ear
16.4%
Growth abnormality
14.9%
Abnormality of the eye
13.4%
Abnormality of the immune system
7.5%
Abnormality of the endocrine system
6%
Abnormality of the genitourinary system
6%
Abnormality of blood and blood-forming tissues
4.5%
Abnormality of limbs
4.5%
Abnormality of prenatal development or birth
4.5%
Abnormality of the digestive system
4.5%
Constitutional symptom
3%
Abnormality of the respiratory system
1.5%
Neoplasm
1.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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