| | LOC123477714, LOC123477715
+1267 more | Copy number gain | Neurodevelopmental disorder | |
| | LOC129992561, LOC129992562
+1409 more | Copy number gain | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Mucopolysaccharidosis, MPS-I-S +4 more | |
| | | Single nucleotide variant (intron variant +1 more) | Mucopolysaccharidosis type 1 | |
| | | Deletion (3 prime UTR variant +3 more) | Mucopolysaccharidosis type 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | Mucopolysaccharidosis, MPS-I-S +7 more | |
| | | Single nucleotide variant (missense variant +3 more) | Mucopolysaccharidosis type 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | Mucopolysaccharidosis type 1 | |
| | | Single nucleotide variant (splice donor variant +2 more) | Mucopolysaccharidosis type 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Hurler syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis type 1 +2 more | |
| | | Duplication (frameshift variant +1 more) | Mucopolysaccharidosis type 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis type 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hurler syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis type 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis type 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Hurler syndrome +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hurler syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hurler syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hurler syndrome +5 more | |
| | | Deletion (frameshift variant +1 more) | Mucopolysaccharidosis type 1 +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Mucopolysaccharidosis type 1 +4 more | |
| | | Deletion (frameshift variant +1 more) | Mucopolysaccharidosis type 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |