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C10orf53

Synonyms
-
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
17
Likely pathogenic
2
VUS
1,166
Likely benign
107
Benign
0

Patient phenotypes

Proportions of phenotypes among 17 patients carring pathogenic or likely pathogenic variants on C10orf53 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
52.9%
Abnormality of head or neck
41.2%
Abnormality of the eye
35.3%
Abnormality of the musculoskeletal system
35.3%
Abnormality of the cardiovascular system
29.4%
Growth abnormality
29.4%
Abnormality of blood and blood-forming tissues
11.8%
Abnormality of the digestive system
11.8%
Abnormality of the immune system
11.8%
Abnormality of the integument
11.8%
Abnormal cellular phenotype
5.9%
Abnormality of limbs
5.9%
Abnormality of prenatal development or birth
5.9%
Abnormality of the endocrine system
5.9%
Abnormality of the respiratory system
5.9%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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