| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Cerebellar-facial-dental syndrome | |
| | | Single nucleotide variant (missense variant) | Cerebellar-facial-dental syndrome | |
Click to view in NCBI Gene