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CLEC2D

Synonyms
CLAX, LLT1, OCIL
External resources
Summary
This gene encodes a member of the natural killer cell receptor C-type lectin family. The encoded protein inhibits osteoclast formation and contains a transmembrane domain near the N-terminus as well as the C-type lectin-like extracellular domain. Several alternatively spliced transcript variants have been identified for this gene.

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
0
VUS
1,087
Likely benign
46
Benign
0

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on CLEC2D gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
45.5%
Abnormality of the nervous system
36.4%
Abnormality of the eye
27.3%
Abnormality of the cardiovascular system
18.2%
Growth abnormality
18.2%
Abnormality of blood and blood-forming tissues
9.1%
Abnormality of head or neck
9.1%
Abnormality of limbs
9.1%
Abnormality of the genitourinary system
9.1%
Abnormality of the integument
9.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
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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