| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +1 more | |
Click to view in NCBI Gene