| | | Single nucleotide variant (nonsense +1 more) | Mucopolysaccharidosis, MPS-IV-B +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | GM1 gangliosidosis type 2 +7 more | |
| | | Single nucleotide variant (missense variant) | Infantile GM1 gangliosidosis +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | GM1 gangliosidosis +5 more | |
| | | Duplication (frameshift variant) | GM1 gangliosidosis type 2 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | GM1 gangliosidosis +5 more | |
| | | Single nucleotide variant (missense variant) | GM1 gangliosidosis type 2 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | GM1 gangliosidosis type 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | GM1 gangliosidosis +5 more | |
| | | Duplication (nonsense +1 more) | Mucopolysaccharidosis, MPS-IV-B +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | GM1 gangliosidosis type 2 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | GM1 gangliosidosis type 2 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | not provided +5 more | |
| | | Single nucleotide variant (splice donor variant) | GM1 gangliosidosis +4 more | |
| | | Single nucleotide variant (missense variant) | GM1 gangliosidosis type 3 +7 more | GPathogenic/Likely pathogenic |