single nucleotide variant | NM_000203.5(IDUA):c.178C>T (p.Gln60Ter) | IDUA | Pathogenic | 4 | 981616 | 981616 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter) | IDUA | Pathogenic | 4 | 981630 | 981630 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA256113,OMIM:252800.0006 |
single nucleotide variant | NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) | IDUA | Pathogenic | 4 | 981661 | 981661 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA356994,UniProtKB:P35475#VAR_003352 |
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.266G>A (p.Arg89Gln) | IDUA | Pathogenic | 4 | 981704 | 981704 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA256124,UniProtKB:P35475#VAR_003354,OMIM:252800.0015 |
single nucleotide variant | NM_000203.5(IDUA):c.299+1G>T | IDUA | Pathogenic/Likely pathogenic | 4 | 981738 | 981738 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA220508 |
single nucleotide variant | NM_000203.5(IDUA):c.300-1G>A | IDUA | Likely pathogenic | 4 | 994399 | 994399 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000203.5(IDUA):c.385+1G>C | IDUA | Pathogenic | 4 | 994486 | 994486 | G | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000203.5(IDUA):c.386-2A>G | IDUA | Pathogenic | 4 | 994668 | 994668 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA356991 |
Deletion | NM_000203.5(IDUA):c.390del (p.Phe130fs) | IDUA | Likely pathogenic | 4 | 994672 | 994672 | GT | G | criteria provided, single submitter | - |