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CLIC2

Synonyms
CLCNL2, CLIC2b, MRXS32, XAP121
External resources
Summary
This gene encodes a chloride intracellular channel protein. Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. This protein plays a role in inhibiting the function of ryanodine receptor 2. A mutation in this gene is the cause of an X-linked form of cognitive disability.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
210
Likely benign
327
Benign
36

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CLIC2 gene.

Phenotype class
Patients in 3billion (%)

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