Home > Gene Browser > CLEC2A

CLEC2A

Synonyms
INPE5792, KACL, PILAR, UNQ5792
External resources
Summary
CLEC2A belongs to the CLEC2 family of activation-induced, natural killer gene complex-encoded C-type lectin-like receptors (Spreu et al., 2007

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
3
VUS
876
Likely benign
186
Benign
0

Patient phenotypes

Proportions of phenotypes among 14 patients carring pathogenic or likely pathogenic variants on CLEC2A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
42.9%
Abnormality of the nervous system
35.7%
Abnormality of the eye
28.6%
Abnormality of limbs
21.4%
Abnormality of head or neck
14.3%
Abnormality of the immune system
14.3%
Abnormality of the integument
14.3%
Abnormality of blood and blood-forming tissues
7.1%
Abnormality of prenatal development or birth
7.1%
Abnormality of the cardiovascular system
7.1%
Abnormality of the digestive system
7.1%
Abnormality of the ear
7.1%
Abnormality of the voice
7.1%
Growth abnormality
7.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

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