single nucleotide variant | NM_000203.5(IDUA):c.1190-2A>T | IDUA | Likely pathogenic | 4 | 996518 | 996518 | A | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000203.5(IDUA):c.589+1G>A | IDUA | Likely pathogenic | 4 | 995352 | 995352 | G | A | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000203.5(IDUA):c.488dup (p.Tyr163Ter) | IDUA | Likely pathogenic | 4 | 994771 | 994772 | T | TA | criteria provided, single submitter | - |
single nucleotide variant | NM_000203.5(IDUA):c.300-1G>A | IDUA | Likely pathogenic | 4 | 994399 | 994399 | G | A | criteria provided, single submitter | - |
Deletion | NM_000203.5(IDUA):c.1897del (p.Ser633fs) | IDUA | Likely pathogenic | 4 | 998116 | 998116 | CT | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs) | IDUA | Likely pathogenic | 4 | 998083 | 998107 | AGCCCTGGACTACTGGGCCCGACCAG | A | criteria provided, single submitter | - |
Deletion | NM_000203.5(IDUA):c.1867del (p.Leu623fs) | IDUA | Likely pathogenic | 4 | 998084 | 998084 | GC | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000203.5(IDUA):c.1829-1G>A | IDUA | Likely pathogenic | 4 | 998047 | 998047 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000203.5(IDUA):c.1829-2A>G | IDUA | Likely pathogenic | 4 | 998046 | 998046 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000203.5(IDUA):c.1650+1G>A | IDUA | Likely pathogenic | 4 | 997259 | 997259 | G | A | criteria provided, single submitter | - |