| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Infantile GM1 gangliosidosis | |
| | | Single nucleotide variant (missense variant) | Infantile GM1 gangliosidosis | |
| | | Single nucleotide variant (missense variant) | Infantile GM1 gangliosidosis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | GM1 gangliosidosis +5 more | |
| | | Microsatellite (inframe_deletion +1 more) | Infantile GM1 gangliosidosis | |
Click to view in NCBI Gene