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