single nucleotide variant | NM_000531.6(OTC):c.1033T>C (p.Tyr345His) | OTC | Pathogenic | X | 38280303 | 38280303 | T | C | criteria provided, single submitter | ClinGen:CA224442 |
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.995G>A (p.Trp332Ter) | OTC | Pathogenic | X | 38271242 | 38271242 | G | A | criteria provided, single submitter | ClinGen:CA224869 |
single nucleotide variant | NM_000531.6(OTC):c.988A>G (p.Arg330Gly) | OTC | Pathogenic/Likely pathogenic | X | 38271235 | 38271235 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA224864,UniProtKB:P00480#VAR_004939 |
single nucleotide variant | NM_000531.6(OTC):c.961T>C (p.Ser321Pro) | OTC | Likely pathogenic | X | 38271208 | 38271208 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000531.6(OTC):c.959G>T (p.Arg320Leu) | OTC | Likely pathogenic | X | 38271206 | 38271206 | G | T | criteria provided, single submitter | ClinGen:CA224858,UniProtKB:P00480#VAR_004938 |
single nucleotide variant | NM_000531.6(OTC):c.958C>T (p.Arg320Ter) | OTC | Pathogenic | X | 38271205 | 38271205 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA285809 |
single nucleotide variant | NM_000531.6(OTC):c.944T>G (p.Val315Gly) | OTC | Pathogenic | X | 38271191 | 38271191 | T | G | criteria provided, single submitter | ClinGen:CA224850 |
single nucleotide variant | NM_000531.6(OTC):c.944T>A (p.Val315Asp) | OTC | Pathogenic | X | 38271191 | 38271191 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA224848 |
single nucleotide variant | NM_000531.6(OTC):c.943G>T (p.Val315Phe) | OTC | Likely pathogenic | X | 38271190 | 38271190 | G | T | criteria provided, single submitter | ClinGen:CA224846 |