| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | |
| | | Single nucleotide variant (missense variant) | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | |
| | | Single nucleotide variant (missense variant) | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | |
Click to view in NCBI Gene