| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Alpha-N-acetylgalactosaminidase deficiency +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Single nucleotide variant (nonsense) | Alpha-N-acetylgalactosaminidase deficiency type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene