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TGM4

Synonyms
TGP, hTGP
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
22
Likely pathogenic
128
VUS
4,140
Likely benign
1,313
Benign
0

Patient phenotypes

Proportions of phenotypes among 150 patients carring pathogenic or likely pathogenic variants on TGM4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
56%
Abnormality of the nervous system
27.3%
Abnormality of the musculoskeletal system
21.3%
Abnormality of head or neck
14.7%
Abnormality of the integument
11.3%
Abnormality of the ear
10%
Abnormality of limbs
8.7%
Growth abnormality
8.7%
Abnormality of the cardiovascular system
8%
Abnormality of the genitourinary system
6.7%
Abnormality of the digestive system
6%
Abnormality of the immune system
5.3%
Abnormality of blood and blood-forming tissues
4%
Constitutional symptom
4%
Neoplasm
3.3%
Abnormality of the endocrine system
2%
Abnormality of the respiratory system
2%
Abnormality of prenatal development or birth
1.3%
Abnormality of the voice
1.3%
Abnormal cellular phenotype
0.7%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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