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TGM4

Synonyms
TGP, hTGP
External resources
Summary
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Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
24
Likely pathogenic
290
VUS
5,456
Likely benign
5,099
Benign
0

Patient phenotypes

Proportions of phenotypes among 302 patients carrying pathogenic or likely pathogenic variants on TGM4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
34.1%
Abnormality of the nervous system
31.1%
Abnormality of the musculoskeletal system
22.2%
Abnormality of head or neck
14.9%
Abnormality of the integument
11.3%
Growth abnormality
10.6%
Abnormality of limbs
10.3%
Abnormality of the ear
8.9%
Abnormality of the genitourinary system
8.3%
Abnormality of the digestive system
7.3%
Abnormality of the immune system
7.3%
Abnormality of the cardiovascular system
7%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of the endocrine system
3.3%
Constitutional symptom
3.3%
Abnormal cellular phenotype
2%
Abnormality of prenatal development or birth
2%
Neoplasm
2%
Abnormality of the respiratory system
1%
Abnormality of the voice
1%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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