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C19orf71

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
39
Likely pathogenic
43
VUS
1,898
Likely benign
109
Benign
0

Patient phenotypes

Proportions of phenotypes among 82 patients carring pathogenic or likely pathogenic variants on C19orf71 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.7%
Abnormality of the musculoskeletal system
23.2%
Abnormality of the cardiovascular system
20.7%
Abnormality of head or neck
18.3%
Abnormality of the eye
17.1%
Abnormality of the ear
15.9%
Abnormality of limbs
11%
Abnormality of the integument
9.8%
Abnormality of the genitourinary system
7.3%
Constitutional symptom
6.1%
Growth abnormality
6.1%
Abnormality of the digestive system
4.9%
Abnormality of the immune system
3.7%
Abnormality of blood and blood-forming tissues
2.4%
Abnormality of prenatal development or birth
2.4%
Abnormality of the endocrine system
2.4%
Abnormality of the respiratory system
2.4%
Abnormal cellular phenotype
1.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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