| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | |
| | | Deletion (frameshift variant) | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | |
Click to view in NCBI Gene