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.1598C>G (p.Pro533Arg) | IDUA | Pathogenic | 4 | 997206 | 997206 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA256112,UniProtKB:P35475#VAR_003378,OMIM:252800.0003 |
Deletion | NM_000203.5(IDUA):c.390del (p.Phe130fs) | IDUA | Likely pathogenic | 4 | 994672 | 994672 | GT | G | criteria provided, single submitter | - |
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 | - |
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 | - |
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.1650+2C>G | IDUA | Likely pathogenic | 4 | 997260 | 997260 | C | G | criteria provided, single submitter | - |