| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice donor variant) | SCOTT SYNDROME | |
| | | Single nucleotide variant (splice donor variant) | ANO6-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | SCOTT SYNDROME | |
Click to view in NCBI Gene