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CEP162

Synonyms
C6orf84, KIAA1009, QN1
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
105
Likely pathogenic
0
VUS
7,223
Likely benign
493
Benign
0

Patient Phenotypes

Proportions of phenotypes among 103 patients carrying pathogenic or likely pathogenic variants on CEP162 gene are displayed below. The following symptoms were found in patients with a variant in CEP162. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
30.1%
Abnormality of the musculoskeletal system
23.3%
Abnormality of the eye
19.4%
Abnormality of head or neck
17.5%
Abnormality of the cardiovascular system
15.5%
Abnormality of the ear
12.6%
Abnormality of blood and blood forming tissues
11.7%
Abnormality of metabolism homeostasis
9.7%
Abnormality of limbs
8.7%
Growth abnormality
8.7%
Abnormality of prenatal development or birth
6.8%
Abnormality of the genitourinary system
6.8%
Abnormality of the digestive system
4.9%
Abnormality of the immune system
3.9%
Abnormality of the endocrine system
2.9%
Neoplasm
2.9%
Abnormality of the integument
1.9%
Abnormality of the respiratory system
1.9%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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