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CNPPD1

Synonyms
C2orf24, CGI-57
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
66
Likely pathogenic
0
VUS
2,663
Likely benign
2,108
Benign
0

Patient phenotypes

Proportions of phenotypes among 66 patients carring pathogenic or likely pathogenic variants on CNPPD1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.3%
Abnormality of the cardiovascular system
18.2%
Abnormality of the ear
15.2%
Abnormality of the musculoskeletal system
15.2%
Abnormality of head or neck
13.6%
Growth abnormality
10.6%
Abnormality of the digestive system
6.1%
Abnormality of the eye
6.1%
Abnormality of the genitourinary system
6.1%
Abnormality of the endocrine system
4.5%
Abnormality of blood and blood-forming tissues
3%
Abnormality of limbs
3%
Abnormality of the immune system
3%
Neoplasm
3%
Abnormality of prenatal development or birth
1.5%
Abnormality of the integument
1.5%
Abnormality of the respiratory system
1.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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