single nucleotide variant | NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter) | IDUA | Pathogenic | 4 | 996113 | 996113 | C | A | criteria provided, single submitter | ClinGen:CA356984 |
single nucleotide variant | NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) | IDUA | Pathogenic | 4 | 995530 | 995530 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA356986,UniProtKB:P35475#VAR_003358 |
single nucleotide variant | NM_000203.5(IDUA):c.590-7G>A | IDUA | Pathogenic | 4 | 995460 | 995460 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA356990,OMIM:252800.0004 |
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 |
single nucleotide variant | NM_000203.5(IDUA):c.972+1G>A | IDUA | Pathogenic | 4 | 995950 | 995950 | G | A | criteria provided, single submitter | ClinGen:CA275387 |
single nucleotide variant | NM_000203.5(IDUA):c.494-1G>C | IDUA | Pathogenic | 4 | 995255 | 995255 | G | C | criteria provided, single submitter | ClinGen:CA275298 |
single nucleotide variant | NM_000203.5(IDUA):c.1529C>G (p.Pro510Arg) | IDUA | Likely pathogenic | 4 | 997137 | 997137 | C | G | criteria provided, single submitter | ClinGen:CA274951 |
single nucleotide variant | NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) | IDUA | Pathogenic | 4 | 981024 | 981024 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA274902,UniProtKB:P35475#VAR_003351 |
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 |
Deletion | NM_000203.5(IDUA):c.164del (p.Pro55fs) | IDUA | Pathogenic | 4 | 981597 | 981597 | GC | G | criteria provided, single submitter | ClinGen:CA234127 |