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C1orf189

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
6
Likely pathogenic
17
VUS
1,168
Likely benign
1,817
Benign
0

Patient phenotypes

Proportions of phenotypes among 23 patients carring pathogenic or likely pathogenic variants on C1orf189 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.8%
Abnormality of the musculoskeletal system
43.5%
Abnormality of the eye
39.1%
Abnormality of head or neck
26.1%
Abnormality of limbs
17.4%
Abnormality of the integument
17.4%
Abnormality of the ear
13%
Growth abnormality
13%
Abnormality of blood and blood-forming tissues
8.7%
Abnormality of the immune system
8.7%
Abnormality of the digestive system
4.3%
Abnormality of the endocrine system
4.3%
Abnormality of the respiratory system
4.3%
Constitutional symptom
4.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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