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G2E3

Synonyms
KIAA1333, PHF7B
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
5
Likely pathogenic
687
VUS
1,616
Likely benign
652
Benign
0

Patient phenotypes

Proportions of phenotypes among 692 patients carrying pathogenic or likely pathogenic variants on G2E3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.6%
Abnormality of the musculoskeletal system
25.7%
Abnormality of the eye
22.5%
Abnormality of the cardiovascular system
22.4%
Abnormality of head or neck
18.6%
Abnormality of the genitourinary system
13.9%
Abnormality of the ear
12.1%
Abnormality of limbs
12%
Growth abnormality
11.3%
Abnormality of the integument
11%
Abnormality of the digestive system
8.8%
Abnormality of the immune system
5.3%
Abnormality of the endocrine system
5.1%
Abnormality of blood and blood-forming tissues
4%
Abnormality of prenatal development or birth
3.6%
Abnormality of the respiratory system
3.3%
Neoplasm
3.2%
Constitutional symptom
2.5%
Abnormality of the breast
0.6%
Abnormal cellular phenotype
0.4%
Abnormality of the voice
0.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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