| | | Single nucleotide variant (intron variant) | not specified | |
| | | Deletion (intron variant) | Mucolipidosis type II +2 more | |
| | | Single nucleotide variant (synonymous variant) | GNPTAB-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type II +3 more | |
| | | Single nucleotide variant (intron variant) | GNPTAB-related disorder | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | Pseudo-Hurler polydystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Pseudo-Hurler polydystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | GNPTAB-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | Pseudo-Hurler polydystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Pseudo-Hurler polydystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | GNPTAB-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | GNPTAB-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type II +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mucolipidosis type II +2 more | |
| | | Single nucleotide variant (synonymous variant) | Pseudo-Hurler polydystrophy +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type II +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | GNPTAB-related disorder +2 more | |
| | | Microsatellite (intron variant) | GNPTAB-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | GNPTAB-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type II +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | GNPTAB-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Pseudo-Hurler polydystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | GNPTAB-related disorder +2 more | |
| | | Deletion (frameshift variant) | GNPTAB-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Microsatellite (5 prime UTR variant) | not specified +3 more | |