| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities | |
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