| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CTSA, LOC130065974 (L18fs) | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined deficiency of sialidase AND beta galactosidase +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene