| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GLB1, LOC129936434
+1 more | Deletion (5 prime UTR variant +1 more) | Infantile GM1 gangliosidosis | |
| | TMPPE, LOC129936434
+1 more | Deletion (5 prime UTR variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +5 more | GPathogenic/Likely pathogenic |
| | GLB1, LOC129936434
+1 more (M1I) | Single nucleotide variant (missense variant +2 more) | Infantile GM1 gangliosidosis | |
Click to view in NCBI Gene