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CWC22

Synonyms
EIF4GL, NCM, fSAPb
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
11
Likely pathogenic
0
VUS
2,210
Likely benign
851
Benign
0

Patient Phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on CWC22 gene are displayed below. The following symptoms were found in patients with a variant in CWC22. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
63.6%
Abnormality of the musculoskeletal system
54.5%
Abnormality of head or neck
27.3%
Abnormality of the eye
27.3%
Abnormality of the ear
18.2%
Abnormality of limbs
9.1%
Abnormality of the digestive system
9.1%
Abnormality of the integument
9.1%
Growth abnormality
9.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
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 endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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