single nucleotide variant | NM_000531.6(OTC):c.626C>T (p.Ala209Val) | OTC | Pathogenic | X | 38262956 | 38262956 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA224717,UniProtKB:P00480#VAR_004909 |
single nucleotide variant | NM_000531.6(OTC):c.622G>A (p.Ala208Thr) | OTC | Pathogenic | X | 38262952 | 38262952 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA224716,UniProtKB:P00480#VAR_004908 |
single nucleotide variant | NM_000531.6(OTC):c.621C>A (p.Ser207Arg) | OTC | Likely pathogenic | X | 38262951 | 38262951 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA224715,UniProtKB:P00480#VAR_004907 |
single nucleotide variant | NM_000531.6(OTC):c.615G>C (p.Met205Ile) | OTC | Pathogenic | X | 38262945 | 38262945 | G | C | criteria provided, single submitter | ClinGen:CA312797 |
single nucleotide variant | NM_000531.6(OTC):c.613A>G (p.Met205Val) | OTC | Likely pathogenic | X | 38262943 | 38262943 | A | G | criteria provided, single submitter | ClinGen:CA224709 |
single nucleotide variant | NM_000531.6(OTC):c.604C>T (p.His202Tyr) | OTC | Pathogenic | X | 38262934 | 38262934 | C | T | criteria provided, single submitter | ClinGen:CA224705,UniProtKB:P00480#VAR_004904 |
single nucleotide variant | NM_000531.6(OTC):c.596A>G (p.Asn199Ser) | OTC | Pathogenic/Likely pathogenic | X | 38262926 | 38262926 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA224702 |
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.589G>A (p.Gly197Arg) | OTC | Pathogenic/Likely pathogenic | X | 38262919 | 38262919 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA224695,UniProtKB:P00480#VAR_009235 |
single nucleotide variant | NM_000531.6(OTC):c.583G>A (p.Gly195Arg) | OTC | Pathogenic | X | 38262913 | 38262913 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA285807,UniProtKB:P00480#VAR_004899 |