| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Insertion (frameshift variant +2 more) | Pontocerebellar hypoplasia, type 1E +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neuropathy, hereditary motor and sensory, type 6B +1 more | |
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