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C2orf80

Synonyms
GONDA1
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
59
Likely pathogenic
113
VUS
1,406
Likely benign
11
Benign
0

Patient phenotypes

Proportions of phenotypes among 170 patients carring pathogenic or likely pathogenic variants on C2orf80 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.9%
Abnormality of the musculoskeletal system
24.7%
Abnormality of head or neck
24.1%
Abnormality of the cardiovascular system
23.5%
Growth abnormality
15.9%
Abnormality of the ear
10.6%
Abnormality of the eye
8.8%
Abnormality of the genitourinary system
8.2%
Abnormality of the integument
6.5%
Abnormality of blood and blood-forming tissues
5.9%
Abnormality of the digestive system
5.3%
Abnormality of the immune system
5.3%
Abnormality of prenatal development or birth
4.1%
Abnormality of limbs
3.5%
Abnormality of the endocrine system
1.8%
Abnormality of the respiratory system
1.2%
Abnormality of the voice
0.6%
Constitutional symptom
0.6%
Neoplasm
0.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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