single nucleotide variant | NM_000203.5(IDUA):c.1A>C (p.Met1Leu) | IDUA | Pathogenic | 4 | 980873 | 980873 | A | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000203.5(IDUA):c.2T>C (p.Met1Thr) | IDUA | Pathogenic | 4 | 980874 | 980874 | T | C | 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 | - |
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 |
Indel | NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs) | IDUA | Likely pathogenic | 4 | 980932 | 980933 | GC | A | criteria provided, multiple submitters, no conflicts | - |
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 |
single nucleotide variant | NM_000203.5(IDUA):c.158+1G>A | IDUA | Pathogenic | 4 | 981031 | 981031 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA355945713 |
single nucleotide variant | NM_000203.5(IDUA):c.159-1G>A | IDUA | Likely pathogenic | 4 | 981596 | 981596 | G | A | criteria provided, single submitter | - |
Deletion | NM_000203.5(IDUA):c.164del (p.Pro55fs) | IDUA | Pathogenic | 4 | 981597 | 981597 | GC | G | criteria provided, single submitter | ClinGen:CA234127 |
Duplication | NM_000203.5(IDUA):c.170_209dup (p.Gln70delinsHisThrGlnProGlyTer) | IDUA | Pathogenic | 4 | 981607 | 981608 | C | CCACACAGCCAGGCTGACCAGTACGTCCTCAGCTGGGACCA | criteria provided, single submitter | - |