| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | Spongy degeneration of central nervous system +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Abnormality of metabolism/homeostasis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | Spongy degeneration of central nervous system +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene