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ERVMER34-1

Synonyms
HEMO, envMER34
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
50
Likely pathogenic
0
VUS
818
Likely benign
1
Benign
0

Patient phenotypes

Proportions of phenotypes among 42 patients carring pathogenic or likely pathogenic variants on ERVMER34-1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
31%
Abnormality of the cardiovascular system
19%
Abnormality of the eye
19%
Abnormality of the digestive system
16.7%
Abnormality of head or neck
14.3%
Abnormality of the ear
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the integument
14.3%
Abnormality of the musculoskeletal system
14.3%
Growth abnormality
11.9%
Abnormality of the immune system
9.5%
Neoplasm
9.5%
Abnormality of limbs
7.1%
Abnormality of prenatal development or birth
4.8%
Constitutional symptom
4.8%
Abnormality of blood and blood-forming tissues
2.4%
Abnormality of the endocrine system
2.4%
Abnormality of the respiratory system
2.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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