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ERICH3

Synonyms
C1orf173
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
58
Likely pathogenic
0
VUS
4,590
Likely benign
4,825
Benign
0

Patient phenotypes

Proportions of phenotypes among 58 patients carring pathogenic or likely pathogenic variants on ERICH3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
48.3%
Abnormality of the musculoskeletal system
27.6%
Abnormality of head or neck
20.7%
Abnormality of the eye
20.7%
Abnormality of the cardiovascular system
19%
Abnormality of limbs
15.5%
Abnormality of the ear
15.5%
Abnormality of the integument
15.5%
Abnormality of the digestive system
12.1%
Abnormality of the genitourinary system
12.1%
Growth abnormality
12.1%
Abnormality of prenatal development or birth
10.3%
Abnormality of the immune system
6.9%
Abnormality of the respiratory system
6.9%
Abnormality of the endocrine system
5.2%
Abnormality of blood and blood-forming tissues
3.4%
Abnormality of the breast
1.7%
Neoplasm
1.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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