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TEX38

Synonyms
ATPAF1-AS1, C1orf223, THEG4
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
5
Likely pathogenic
32
VUS
1,148
Likely benign
556
Benign
0

Patient phenotypes

Proportions of phenotypes among 37 patients carring pathogenic or likely pathogenic variants on TEX38 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.8%
Abnormality of the musculoskeletal system
27%
Abnormality of head or neck
21.6%
Abnormality of the cardiovascular system
21.6%
Abnormality of the ear
18.9%
Abnormality of the eye
18.9%
Abnormality of the integument
13.5%
Growth abnormality
10.8%
Abnormality of blood and blood-forming tissues
8.1%
Abnormality of the genitourinary system
8.1%
Abnormality of the digestive system
5.4%
Abnormality of the immune system
5.4%
Abnormality of the respiratory system
5.4%
Abnormality of limbs
2.7%
Neoplasm
2.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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