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C11orf21

Synonyms
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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
1
Likely pathogenic
766
VUS
2,264
Likely benign
2
Benign
0

Patient phenotypes

Proportions of phenotypes among 767 patients carring pathogenic or likely pathogenic variants on C11orf21 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.7%
Abnormality of the musculoskeletal system
19.9%
Abnormality of the cardiovascular system
19.8%
Abnormality of head or neck
15.9%
Abnormality of the ear
15.9%
Abnormality of the eye
15.8%
Growth abnormality
11.1%
Abnormality of the genitourinary system
8.5%
Abnormality of the integument
7.6%
Abnormality of blood and blood-forming tissues
6%
Abnormality of the digestive system
6%
Abnormality of the immune system
5.5%
Abnormality of limbs
4.4%
Abnormality of the endocrine system
4.3%
Abnormality of the respiratory system
3%
Neoplasm
2.3%
Abnormality of prenatal development or birth
2.2%
Constitutional symptom
1.8%
Abnormal cellular phenotype
0.7%
Abnormality of the breast
0.3%
Abnormality of the voice
0.1%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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