single nucleotide variant | NM_000531.6(OTC):c.961T>C (p.Ser321Pro) | OTC | Likely pathogenic | X | 38271208 | 38271208 | T | C | criteria provided, single submitter | - |
Duplication | NM_000531.6(OTC):c.391_397dup (p.Ser133delinsIleValTer) | OTC | Pathogenic | X | 38260529 | 38260530 | G | GTATTGTC | criteria provided, single submitter | - |
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.867+1126A>G | OTC | Likely pathogenic | X | 38269404 | 38269404 | A | G | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000531.6(OTC):c.77+2dup | OTC | Likely pathogenic | X | 38212027 | 38212028 | G | GT | criteria provided, single submitter | - |
Deletion | NC_000023.11:g.(?_38381322)_(38413090_?)del | OTC | Pathogenic | X | 38240575 | 38272343 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000531.6(OTC):c.593A>G (p.Asn198Ser) | OTC | Pathogenic | X | 38262923 | 38262923 | A | G | criteria provided, single submitter | ClinGen:CA412725470 |
single nucleotide variant | NM_000531.6(OTC):c.228A>C (p.Leu76Phe) | OTC | Likely pathogenic | X | 38229060 | 38229060 | A | C | criteria provided, single submitter | ClinGen:CA412716809 |
single nucleotide variant | NM_000531.5(OTC):c.-142G>A | OTC | Likely pathogenic | X | 38211808 | 38211808 | G | A | criteria provided, single submitter | ClinGen:CA658799698 |
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 |