| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 9 +4 more | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 +1 more | |
| | AMPD2, LOC126805822 (S347L +3 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 63 | |
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