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G2E3

Synonyms
KIAA1333, PHF7B
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
10
Likely pathogenic
319
VUS
2,066
Likely benign
19
Benign
0

Patient phenotypes

Proportions of phenotypes among 329 patients carring pathogenic or likely pathogenic variants on G2E3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.2%
Abnormality of the musculoskeletal system
30.7%
Abnormality of the eye
29.5%
Abnormality of head or neck
24.3%
Abnormality of the cardiovascular system
21%
Abnormality of the ear
18.5%
Abnormality of the genitourinary system
14.6%
Abnormality of limbs
13.7%
Growth abnormality
13.4%
Abnormality of the integument
11.9%
Abnormality of the digestive system
8.5%
Abnormality of prenatal development or birth
5.5%
Abnormality of the immune system
4.6%
Abnormality of the endocrine system
4.3%
Abnormality of the respiratory system
3.3%
Neoplasm
3.3%
Constitutional symptom
3%
Abnormality of blood and blood-forming tissues
2.7%
Abnormal cellular phenotype
0.9%
Abnormality of the breast
0.9%
Abnormality of the voice
0.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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