| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Kufor-Rakeb syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Kufor-Rakeb syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spastic paraplegia type 78 +2 more | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spastic paraplegia type 78 +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | Autosomal recessive spastic paraplegia type 78 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
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