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C12orf73

Synonyms
BR, BRAWNIN
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
19
Likely pathogenic
0
VUS
658
Likely benign
6
Benign
0

Patient phenotypes

Proportions of phenotypes among 19 patients carring pathogenic or likely pathogenic variants on C12orf73 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
47.4%
Abnormality of the nervous system
47.4%
Abnormality of head or neck
26.3%
Abnormality of the eye
26.3%
Growth abnormality
26.3%
Abnormality of limbs
15.8%
Abnormality of the genitourinary system
15.8%
Abnormality of the cardiovascular system
10.5%
Abnormality of the digestive system
10.5%
Abnormality of the immune system
10.5%
Abnormality of the ear
5.3%
Abnormality of the endocrine system
5.3%
Abnormality of the respiratory system
5.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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