| | | Single nucleotide variant (missense variant) | Infantile GM1 gangliosidosis +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-IV-B +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | GM1 gangliosidosis type 2 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | GM1 gangliosidosis +3 more | |
| | | Deletion (nonsense) | not provided +2 more | |
| | | Deletion (frameshift variant +1 more) | GM1 gangliosidosis +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | GM1 gangliosidosis +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | GLB1-related disorder +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Mucopolysaccharidosis, MPS-IV-B +5 more | GPathogenic/Likely pathogenic |
| | TMPPE, LOC129936434
+1 more | Deletion (5 prime UTR variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +5 more | GPathogenic/Likely pathogenic |