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C1orf185

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
5
Likely pathogenic
27
VUS
396
Likely benign
176
Benign
0

Patient phenotypes

Proportions of phenotypes among 32 patients carring pathogenic or likely pathogenic variants on C1orf185 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
34.4%
Abnormality of the nervous system
31.3%
Growth abnormality
25%
Abnormality of the ear
18.8%
Abnormality of the cardiovascular system
15.6%
Abnormality of the musculoskeletal system
15.6%
Abnormality of head or neck
12.5%
Abnormality of the immune system
12.5%
Abnormality of the integument
12.5%
Abnormality of blood and blood-forming tissues
9.4%
Abnormality of limbs
6.3%
Abnormality of the digestive system
6.3%
Abnormal cellular phenotype
3.1%
Abnormality of prenatal development or birth
3.1%
Abnormality of the genitourinary system
3.1%
Abnormality of the respiratory system
3.1%
Neoplasm
3.1%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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