| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GLB1, LOC129936434
+1 more (T21A) | Single nucleotide variant (missense variant +1 more) | GM1 gangliosidosis +3 more | GConflicting classifications of pathogenicity |
| | TMPPE, LOC129936434
+1 more (P2T) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +2 more | |
Click to view in NCBI Gene