| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MASA syndrome +4 more | |
| | | Indel (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | X-linked complicated corpus callosum dysgenesis +7 more | |
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