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VANGL2

Synonyms
LPP1, LTAP, STB1, STBM, STBM1
External resources
Summary
The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional signals to individual cells or groups of cells in epithelial sheets. This protein is also involved in the development of the neural plate.

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
1,033
Likely benign
413
Benign
1,698

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on VANGL2 gene.

Phenotype class
Patients in 3billion (%)

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