single nucleotide variant | NM_000531.6(OTC):c.577T>C (p.Trp193Arg) | OTC | Likely pathogenic | X | 38262907 | 38262907 | T | C | criteria provided, single submitter | ClinGen:CA224684 |
Deletion | NM_000531.6(OTC):c.562_563del (p.Gly188fs) | OTC | Pathogenic | X | 38262892 | 38262893 | AGG | A | criteria provided, single submitter | ClinGen:CA312803 |
single nucleotide variant | NM_000531.6(OTC):c.548A>G (p.Tyr183Cys) | OTC | Pathogenic | X | 38262878 | 38262878 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA224679,UniProtKB:P00480#VAR_004895 |
Deletion | NC_000023.11:g.(?_38401255)_(38401693_?)del | OTC | Pathogenic | X | 38260508 | 38260946 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000531.6(OTC):c.540+265G>A | OTC | Pathogenic | X | 38260946 | 38260946 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658977 |
single nucleotide variant | NM_000531.6(OTC):c.540+2T>C | OTC | Pathogenic | X | 38260683 | 38260683 | T | C | criteria provided, single submitter | ClinGen:CA221091 |
single nucleotide variant | NM_000531.6(OTC):c.540+1G>T | OTC | Pathogenic | X | 38260682 | 38260682 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA412724240 |
single nucleotide variant | NM_000531.6(OTC):c.540G>C (p.Gln180His) | OTC | Pathogenic | X | 38260681 | 38260681 | G | C | criteria provided, single submitter | ClinGen:CA224674,UniProtKB:P00480#VAR_004892 |
single nucleotide variant | NM_000531.6(OTC):c.533C>T (p.Thr178Met) | OTC | Pathogenic | X | 38260674 | 38260674 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA224668,UniProtKB:P00480#VAR_004890 |
single nucleotide variant | NM_000531.6(OTC):c.506C>T (p.Pro169Leu) | OTC | Pathogenic | X | 38260647 | 38260647 | C | T | criteria provided, single submitter | ClinGen:CA224655 |