single nucleotide variant | NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter) | IDUA | Pathogenic | 4 | 998101 | 998101 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000203.5(IDUA):c.1845_1846del (p.Gly616fs) | IDUA | Likely pathogenic | 4 | 998064 | 998065 | CTG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000203.5(IDUA):c.1828+1G>C | IDUA | Pathogenic/Likely pathogenic | 4 | 997901 | 997901 | G | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter) | IDUA | Pathogenic/Likely pathogenic | 4 | 997815 | 997815 | C | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000203.5(IDUA):c.1650+2C>G | IDUA | Likely pathogenic | 4 | 997260 | 997260 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000203.5(IDUA):c.820G>T (p.Glu274Ter) | IDUA | Pathogenic/Likely pathogenic | 4 | 995797 | 995797 | G | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000203.5(IDUA):c.1602del (p.Leu535fs) | IDUA | Pathogenic/Likely pathogenic | 4 | 997210 | 997210 | CG | C | criteria provided, multiple submitters, no conflicts | - |
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.623G>A (p.Gly208Asp) | IDUA | Pathogenic/Likely pathogenic | 4 | 995500 | 995500 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter) | IDUA | Pathogenic | 4 | 995483 | 995483 | C | A | criteria provided, multiple submitters, no conflicts | - |