| | | Copy number gain | See cases | |
| | LOC129936377, LOC129936378 +1111 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ARPP21, ARPP21-AS1 +87 more | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | GM1 gangliosidosis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (stop lost +1 more) | GM1 gangliosidosis type 2 +3 more | |
| | | Single nucleotide variant (intron variant +1 more) | GM1 gangliosidosis type 2 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (synonymous variant) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Infantile GM1 gangliosidosis +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Duplication (frameshift variant +1 more) | Infantile GM1 gangliosidosis | |
| | | Deletion (frameshift variant +1 more) | GM1 gangliosidosis type 2 +3 more | |
| | | Deletion (frameshift variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | GM1 gangliosidosis type 2 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant) | GM1 gangliosidosis +1 more | |
| | | Duplication (frameshift variant) | GM1 gangliosidosis +1 more | |
| | | Deletion (frameshift variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Mucopolysaccharidosis, MPS-IV-B +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Deletion (frameshift variant +1 more) | GM1 gangliosidosis type 2 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (synonymous variant) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | GM1 gangliosidosis type 2 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ependymoma | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (synonymous variant) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (synonymous variant) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Deletion (frameshift variant +1 more) | GM1 gangliosidosis | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GLB1-related condition +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GM1 gangliosidosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | GM1 gangliosidosis type 2 +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Infantile GM1 gangliosidosis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | GM1-gangliosidosis, type I, with cardiac involvement | |