| | IDS, LOC106050102 (A160T +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | IDS-related disorder | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (M122I +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (N235S +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Deletion (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Duplication (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Deletion (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (H266R +1 more) | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Deletion (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (S71C +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (D167E +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (V221F +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mucopolysaccharidosis, MPS-II | |
| | | Deletion (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Deletion (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Duplication (frameshift variant +2 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (N77S +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (P303A +1 more) | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (P150S +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (E193G +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (nonsense +2 more) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (C184F +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (G134A +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (H139R +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (P171fs +1 more) | Deletion (frameshift variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (splice acceptor variant) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (G336E +1 more) | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (G340D +1 more) | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (V263F +1 more) | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mucopolysaccharidosis, MPS-II | |
| | | Indel (splice acceptor variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-II | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | IDS, LOC106050102 (R223H +1 more) | Single nucleotide variant (missense variant +1 more) | IDS-related disorder | |
| | IDS, LOC106050102 (M301fs +1 more) | Deletion (frameshift variant) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (V267A +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | IDS, LOC106050102 (H179R +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Indel (missense variant +1 more) | not provided | |
| | IDS, LOC106050102 (Y151H +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | IDS, LOC106050102 (V221L +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | IDS, LOC106050102 (L118* +1 more) | Single nucleotide variant (nonsense +1 more) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (W255C +1 more) | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-II | |
| | | Insertion (frameshift variant +2 more) | Mucopolysaccharidosis, MPS-II | |
| | | Deletion (inframe_deletion +1 more) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (H139Y +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | LOC106050102, IDS (P170fs +1 more) | Duplication (frameshift variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (Q203* +1 more) | Single nucleotide variant (nonsense +1 more) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (N175I +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Deletion (frameshift variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (nonsense) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (splice acceptor variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (missense variant +2 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (missense variant +2 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (missense variant +2 more) | Mucopolysaccharidosis, MPS-II | |