Home > Gene Browser > C2orf81

C2orf81

Synonyms
hCG40743
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
11
Likely pathogenic
0
VUS
1,689
Likely benign
0
Benign
0

Patient phenotypes

Proportions of phenotypes among 10 patients carring pathogenic or likely pathogenic variants on C2orf81 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
40%
Abnormality of the nervous system
40%
Abnormality of prenatal development or birth
10%
Abnormality of the ear
10%
Abnormality of the eye
10%
Abnormality of the integument
10%
Abnormality of the musculoskeletal system
10%
Constitutional symptom
10%
Growth abnormality
10%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of head or neck
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes