| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Kufor-Rakeb syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive spastic paraplegia type 78 | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive spastic paraplegia type 78 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene