| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | GM1 gangliosidosis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | GM1 gangliosidosis +2 more | |
| | | Single nucleotide variant (missense variant) | GM1 gangliosidosis type 3 +2 more | |
Click to view in NCBI Gene