Duplication | NM_000203.5(IDUA):c.488dup (p.Tyr163Ter) | IDUA | Likely pathogenic | 4 | 994771 | 994772 | T | TA | criteria provided, single submitter | - |
single nucleotide variant | NM_000203.5(IDUA):c.493+1G>A | IDUA | Likely pathogenic | 4 | 994778 | 994778 | G | A | criteria provided, single submitter | - |
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.494-1G>A | IDUA | Pathogenic | 4 | 995255 | 995255 | G | A | criteria provided, single submitter | - |
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.536C>G (p.Thr179Arg) | IDUA | Pathogenic/Likely pathogenic | 4 | 995298 | 995298 | C | G | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000203.5(IDUA):c.542dup (p.Asn181fs) | IDUA | Pathogenic/Likely pathogenic | 4 | 995302 | 995303 | G | GA | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000203.5(IDUA):c.554A>C (p.His185Pro) | IDUA | Likely pathogenic | 4 | 995316 | 995316 | A | C | criteria provided, single submitter | ClinGen:CA16618019 |
single nucleotide variant | NM_000203.5(IDUA):c.589+1G>A | IDUA | Likely pathogenic | 4 | 995352 | 995352 | G | A | criteria provided, multiple submitters, no conflicts | - |
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 |