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ATG2A

Synonyms
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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
14
Likely pathogenic
0
VUS
26,894
Likely benign
18,287
Benign
0

Patient phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on ATG2A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.5%
Abnormality of the genitourinary system
30.8%
Abnormality of the musculoskeletal system
30.8%
Abnormality of head or neck
23.1%
Abnormality of the eye
23.1%
Growth abnormality
23.1%
Abnormality of the cardiovascular system
15.4%
Abnormality of the ear
15.4%
Abnormality of the immune system
15.4%
Abnormality of blood and blood-forming tissues
7.7%
Abnormality of limbs
7.7%
Abnormality of the digestive system
7.7%
Abnormality of the integument
7.7%
Abnormality of the respiratory system
7.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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