single nucleotide variant | NM_000531.6(OTC):c.717+1G>A | OTC | Pathogenic | X | 38268049 | 38268049 | G | A | criteria provided, single submitter | ClinGen:CA224752 |
single nucleotide variant | NM_000531.6(OTC):c.717G>C (p.Glu239Asp) | OTC | Likely pathogenic | X | 38268048 | 38268048 | G | C | criteria provided, single submitter | ClinGen:CA224759 |
single nucleotide variant | NM_000531.6(OTC):c.717G>A (p.Glu239=) | OTC | Likely pathogenic | X | 38268048 | 38268048 | G | A | criteria provided, single submitter | ClinGen:CA224757 |
single nucleotide variant | NM_000531.6(OTC):c.674C>T (p.Pro225Leu) | OTC | Pathogenic | X | 38268005 | 38268005 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA224741,UniProtKB:P00480#VAR_004913,OMIM:300461.0015 |
single nucleotide variant | NM_000531.6(OTC):c.673C>T (p.Pro225Ser) | OTC | Likely pathogenic | X | 38268004 | 38268004 | C | T | criteria provided, single submitter | ClinGen:CA327910816 |
single nucleotide variant | NM_000531.6(OTC):c.663+2T>C | OTC | Pathogenic | X | 38262995 | 38262995 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA224732 |
single nucleotide variant | NM_000531.6(OTC):c.663+1G>T | OTC | Pathogenic | X | 38262994 | 38262994 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA224731 |
single nucleotide variant | NM_000531.6(OTC):c.659C>T (p.Pro220Leu) | OTC | Likely pathogenic | X | 38262989 | 38262989 | C | T | criteria provided, single submitter | ClinGen:CA224728 |
single nucleotide variant | NM_000531.6(OTC):c.634G>T (p.Gly212Ter) | OTC | Pathogenic | X | 38262964 | 38262964 | G | T | criteria provided, single submitter | ClinGen:CA16621369 |
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 |