| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | AGTPBP1, LOC130001960 (R53fs) | Deletion (frameshift variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
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