| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Phelan-McDermid syndrome | |
Click to view in NCBI Gene