single nucleotide variant | NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn) | IDUA | Pathogenic/Likely pathogenic | 4 | 996129 | 996129 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA220497,UniProtKB:P35475#VAR_003362 |
single nucleotide variant | NM_000203.5(IDUA):c.1402+1G>C | IDUA | Pathogenic | 4 | 996733 | 996733 | G | C | criteria provided, single submitter | ClinGen:CA220502 |
single nucleotide variant | NM_000203.5(IDUA):c.1650+5G>A | IDUA | Pathogenic/Likely pathogenic | 4 | 997263 | 997263 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA220504 |
Deletion | NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) | IDUA | Pathogenic | 4 | 997871 | 997871 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA220505 |
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 |
Deletion | NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) | IDUA | Pathogenic | 4 | 980907 | 980918 | GCGCTCCTGGCCT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA220509 |
single nucleotide variant | NM_000203.5(IDUA):c.501C>G (p.Tyr167Ter) | IDUA | Pathogenic | 4 | 995263 | 995263 | C | G | criteria provided, single submitter | ClinGen:CA220511 |
single nucleotide variant | NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) | IDUA | Pathogenic/Likely pathogenic | 4 | 996063 | 996063 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA234128,UniProtKB:P35475#VAR_003361 |
Deletion | NM_000203.5(IDUA):c.164del (p.Pro55fs) | IDUA | Pathogenic | 4 | 981597 | 981597 | GC | G | criteria provided, single submitter | ClinGen:CA234127 |
Deletion | NM_000203.5(IDUA):c.1614del (p.His539fs) | IDUA | Pathogenic | 4 | 997222 | 997222 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA234129,OMIM:252800.0009 |