Home > Gene Browser > NCAM2

NCAM2

Synonyms
NCAM21
External resources
Summary
The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may function in selective fasciculation and zone-to-zone projection of the primary olfactory axons.

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
71
Likely pathogenic
29
VUS
15,294
Likely benign
790
Benign
0

Patient phenotypes

Proportions of phenotypes among 99 patients carring pathogenic or likely pathogenic variants on NCAM2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.5%
Abnormality of the musculoskeletal system
28.3%
Abnormality of the cardiovascular system
26.3%
Abnormality of the eye
26.3%
Abnormality of head or neck
23.2%
Abnormality of the ear
11.1%
Growth abnormality
11.1%
Abnormality of the digestive system
10.1%
Abnormality of the genitourinary system
10.1%
Abnormality of the integument
10.1%
Abnormality of limbs
8.1%
Neoplasm
6.1%
Abnormality of the respiratory system
5.1%
Abnormality of the endocrine system
3%
Abnormality of the breast
2%
Abnormality of the immune system
2%
Abnormality of prenatal development or birth
1%
Abnormality of the thoracic cavity
1%
Constitutional symptom
1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the voice
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes