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CNP

Synonyms
CNP1, HLD20
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
28
Likely pathogenic
0
VUS
2,242
Likely benign
798
Benign
0

Patient Phenotypes

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

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.3%
Abnormality of head or neck
25%
Abnormality of the cardiovascular system
21.4%
Abnormality of the musculoskeletal system
21.4%
Abnormality of the eye
17.9%
Growth abnormality
17.9%
Abnormality of the digestive system
10.7%
Abnormality of the ear
10.7%
Abnormality of the genitourinary system
10.7%
Abnormality of blood and blood forming tissues
7.1%
Abnormality of the endocrine system
7.1%
Abnormality of the immune system
7.1%
Abnormality of the integument
7.1%
Abnormality of the respiratory system
7.1%
Abnormality of metabolism homeostasis
3.6%
Abnormality of prenatal development or birth
3.6%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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