single nucleotide variant | NM_000531.6(OTC):c.216+1G>A | OTC | Pathogenic | X | 38226683 | 38226683 | G | A | criteria provided, single submitter | ClinGen:CA224502 |
Deletion | NM_000531.6(OTC):c.216+1del | OTC | Pathogenic | X | 38226682 | 38226682 | AG | A | criteria provided, single submitter | ClinGen:CA10603589 |
single nucleotide variant | NM_000531.6(OTC):c.205C>T (p.Gln69Ter) | OTC | Pathogenic | X | 38226671 | 38226671 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA224500 |
single nucleotide variant | NM_000531.6(OTC):c.174G>A (p.Trp58Ter) | OTC | Pathogenic | X | 38226640 | 38226640 | G | A | criteria provided, single submitter | ClinGen:CA224490 |
single nucleotide variant | NM_000531.6(OTC):c.167T>C (p.Met56Thr) | OTC | Likely pathogenic | X | 38226633 | 38226633 | T | C | criteria provided, single submitter | ClinGen:CA224487,UniProtKB:P00480#VAR_004855 |
single nucleotide variant | NM_000531.6(OTC):c.158T>C (p.Ile53Thr) | OTC | Likely pathogenic | X | 38226624 | 38226624 | T | C | criteria provided, single submitter | ClinGen:CA224482 |
single nucleotide variant | NM_000531.6(OTC):c.156A>T (p.Glu52Asp) | OTC | Likely pathogenic | X | 38226622 | 38226622 | A | T | criteria provided, single submitter | ClinGen:CA224480 |
single nucleotide variant | NM_000531.6(OTC):c.154G>T (p.Glu52Ter) | OTC | Pathogenic | X | 38226620 | 38226620 | G | T | criteria provided, single submitter | ClinGen:CA224476 |
single nucleotide variant | NM_000531.6(OTC):c.154G>A (p.Glu52Lys) | OTC | Pathogenic | X | 38226620 | 38226620 | G | A | criteria provided, single submitter | ClinGen:CA224474 |
Insertion | NM_000531.6(OTC):c.140_141insG (p.Asn47fs) | OTC | Likely pathogenic | X | 38226606 | 38226607 | A | AG | criteria provided, single submitter | ClinGen:CA224466 |