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ERI2

Synonyms
EXOD1, ZGRF5
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
51
Likely pathogenic
3
VUS
9,361
Likely benign
5,205
Benign
0

Patient phenotypes

Proportions of phenotypes among 53 patients carring pathogenic or likely pathogenic variants on ERI2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.1%
Abnormality of the eye
20.8%
Abnormality of the cardiovascular system
17%
Abnormality of head or neck
13.2%
Abnormality of the ear
13.2%
Abnormality of the musculoskeletal system
11.3%
Abnormality of the immune system
9.4%
Abnormality of the genitourinary system
7.5%
Abnormality of the integument
7.5%
Abnormality of the respiratory system
7.5%
Growth abnormality
7.5%
Abnormality of limbs
3.8%
Abnormality of the endocrine system
3.8%
Abnormality of blood and blood-forming tissues
1.9%
Abnormality of prenatal development or birth
1.9%
Abnormality of the breast
1.9%
Abnormality of the digestive system
1.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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