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CEACAM4

Synonyms
CGM7, CGM7_HUMAN, NCA
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
15
Likely pathogenic
13
VUS
1,228
Likely benign
107
Benign
0

Patient Phenotypes

Proportions of phenotypes among 28 patients carrying pathogenic or likely pathogenic variants on CEACAM4 gene are displayed below. The following symptoms were found in patients with a variant in CEACAM4. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
57.1%
Abnormality of the musculoskeletal system
46.4%
Abnormality of the eye
39.3%
Abnormality of head or neck
32.1%
Abnormality of limbs
17.9%
Abnormality of the cardiovascular system
17.9%
Abnormality of the digestive system
14.3%
Abnormality of the integument
14.3%
Growth abnormality
14.3%
Abnormality of metabolism homeostasis
10.7%
Abnormality of the ear
7.1%
Abnormality of the genitourinary system
7.1%
Abnormality of the immune system
7.1%
Abnormality of blood and blood forming tissues
3.6%
Abnormality of prenatal development or birth
3.6%
Abnormality of the endocrine system
3.6%
Abnormality of the voice
3.6%
Constitutional symptom
3.6%
Neoplasm
3.6%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%

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