| | LOC125467786, LOC125467787 +1203 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication (3 prime UTR variant) | not provided | |
| | | Deletion (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-II +1 more | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-II +1 more | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-II +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Mucopolysaccharidosis, MPS-II +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-II +1 more | GPathogenic/Likely pathogenic |
| | IDS, LOC106050102 (G284V +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | IDS, LOC106050102 (V267A +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | IDS, LOC106050102 (S349N +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | IDS, LOC106050102 (G343R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Mucopolysaccharidosis, MPS-II +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | IDS, LOC106050102 (H245R +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II +1 more | GPathogenic/Likely pathogenic |
| | IDS, LOC106050102 (S333L +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II +1 more | |
| | IDS, LOC106050102 (D230H +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | IDS, LOC106050102 (G312S +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II +2 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | See cases | |
| | IDS, LOC106050102 (D269V +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II +2 more | |
| | IDS, LOC106050102 (P171S +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II +1 more | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC106050102, IDS (I230F +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II +1 more | GPathogenic/Likely pathogenic |
| | IDS, LOC106050102 (V133F +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | IDS, LOC106050102 (V223I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | LOC106050102, IDS (T214M +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II +3 more | GConflicting classifications of pathogenicity |
| | IDS, LOC106050102 (R172* +1 more) | Single nucleotide variant (nonsense +1 more) | Mucopolysaccharidosis, MPS-II +2 more | |
| | | Deletion (intron variant) | not provided | |
| | IDS, LOC106050102 (F155L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | IDS, LOC106050102 (S149A +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-II +3 more | |
| | | Duplication (intron variant) | Mucopolysaccharidosis, MPS-II +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Mucopolysaccharidosis, MPS-II +1 more | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-II +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Mucopolysaccharidosis, MPS-II +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Copy number gain | See cases | |
| | TMEM255A, TMEM31 +819 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | RPS6KA3, RPS6KA6 +819 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |