| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Usher syndrome | |
| | | Single nucleotide variant (missense variant) | Inherited Immunodeficiency Diseases +17 more | |
| | | Single nucleotide variant (missense variant) | Sleep abnormality +6 more | |
| | | Microsatellite (frameshift variant) | not provided +11 more | GPathogenic/Likely pathogenic |
| | | Deletion | Hereditary episodic ataxia +2 more | |
Click to view in NCBI Gene