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C9orf40

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
44
Likely pathogenic
0
VUS
5,745
Likely benign
0
Benign
0

Patient phenotypes

Proportions of phenotypes among 43 patients carring pathogenic or likely pathogenic variants on C9orf40 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.2%
Abnormality of the eye
20.9%
Abnormality of the cardiovascular system
18.6%
Abnormality of the immune system
18.6%
Abnormality of the integument
18.6%
Abnormality of blood and blood-forming tissues
14%
Abnormality of the digestive system
14%
Abnormality of the ear
14%
Abnormality of the musculoskeletal system
14%
Growth abnormality
14%
Abnormality of limbs
11.6%
Abnormality of head or neck
9.3%
Abnormal cellular phenotype
7%
Abnormality of prenatal development or birth
4.7%
Abnormality of the endocrine system
4.7%
Abnormality of the genitourinary system
4.7%
Abnormality of the respiratory system
4.7%
Neoplasm
4.7%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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