| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Brain abnormalities, neurodegeneration, and dysosteosclerosis | |
| | | Single nucleotide variant (missense variant +1 more) | Brain abnormalities, neurodegeneration, and dysosteosclerosis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Brain abnormalities, neurodegeneration, and dysosteosclerosis | |
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