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CCNI2

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
1
Likely pathogenic
34
VUS
3,139
Likely benign
95
Benign
0

Patient phenotypes

Proportions of phenotypes among 35 patients carring pathogenic or likely pathogenic variants on CCNI2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
65.7%
Abnormality of the eye
34.3%
Abnormality of head or neck
25.7%
Abnormality of the musculoskeletal system
25.7%
Abnormality of the ear
17.1%
Abnormality of limbs
14.3%
Abnormality of the integument
14.3%
Abnormality of the cardiovascular system
11.4%
Growth abnormality
11.4%
Abnormality of the digestive system
5.7%
Abnormality of the endocrine system
5.7%
Abnormality of the respiratory system
5.7%
Abnormality of blood and blood-forming tissues
2.9%
Abnormality of the genitourinary system
2.9%
Abnormality of the immune system
2.9%
Constitutional symptom
2.9%
Neoplasm
2.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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