| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | KIDINS220 (L1417fs +6 more) | Duplication (frameshift variant +1 more) | Spastic paraplegia, intellectual disability, nystagmus, and obesity +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia, intellectual disability, nystagmus, and obesity | |
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