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CYLC2

Synonyms
-
External resources
Summary
Cylicin II (CYCL2) is specifically expressed in testis and is part of the cytoskeletal calyx of mammalian sperm heads. Cylicin II may play a role in the morphogenesis of the sperm head.

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
14
Likely pathogenic
0
VUS
13,984
Likely benign
85
Benign
0

Patient Phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on CYLC2 gene are displayed below. The following symptoms were found in patients with a variant in CYLC2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
28.6%
Abnormality of the cardiovascular system
21.4%
Abnormality of the musculoskeletal system
21.4%
Abnormality of the nervous system
21.4%
Growth abnormality
21.4%
Abnormality of head or neck
14.3%
Abnormality of limbs
14.3%
Abnormality of the digestive system
7.1%
Abnormality of the eye
7.1%
Abnormality of the genitourinary system
7.1%
Abnormality of the integument
7.1%
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 endocrine 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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