| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (3 prime UTR variant) | Mucopolysaccharidosis, MPS-III-D | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-III-D +2 more | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-III-D +22 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-III-D | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-III-D | |
Click to view in NCBI Gene