| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | GM1 gangliosidosis type 2 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | GM1 gangliosidosis type 2 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | GM1 gangliosidosis +6 more | GConflicting classifications of pathogenicity |
| | GLB1, LOC129936434
+1 more | Duplication (5 prime UTR variant +1 more) | GM1 gangliosidosis +4 more | |
| | TMPPE, LOC129936434
+1 more | Deletion (5 prime UTR variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene