| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | AMPD2, LOC126805822 (R385* +3 more) | Single nucleotide variant (nonsense) | Pontoneocerebellar hypoplasia +2 more | GPathogenic/Likely pathogenic |
| | AMPD2, LOC126805822 (W452R +3 more) | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 | |
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