single nucleotide variant | NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) | IDUA | Pathogenic/Likely pathogenic | 4 | 981703 | 981703 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000203.5(IDUA):c.159-1G>A | IDUA | Likely pathogenic | 4 | 981596 | 981596 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000203.5(IDUA):c.3G>A (p.Met1Ile) | IDUA | Likely pathogenic | 4 | 980875 | 980875 | G | A | criteria provided, multiple submitters, no conflicts | - |
Indel | NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs) | IDUA | Likely pathogenic | 4 | 980932 | 980933 | GC | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000203.5(IDUA):c.1A>C (p.Met1Leu) | IDUA | Pathogenic | 4 | 980873 | 980873 | A | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000203.5(IDUA):c.1728-2A>G | IDUA | Pathogenic/Likely pathogenic | 4 | 997798 | 997798 | A | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000203.5(IDUA):c.1591del (p.Arg531fs) | IDUA | Likely pathogenic | 4 | 997199 | 997199 | GC | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000203.5(IDUA):c.1524+1G>T | IDUA | Likely pathogenic | 4 | 996946 | 996946 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter) | IDUA | Pathogenic | 4 | 996536 | 996536 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000203.5(IDUA):c.1148G>A (p.Arg383His) | IDUA | Pathogenic/Likely pathogenic | 4 | 996232 | 996232 | G | A | criteria provided, multiple submitters, no conflicts | - |