Duplication | NM_000531.6(OTC):c.217-2dup | OTC | Pathogenic | X | 38229046 | 38229047 | T | TA | criteria provided, single submitter | ClinGen:CA312802 |
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.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 |
single nucleotide variant | NM_000531.6(OTC):c.907T>G (p.Cys303Gly) | OTC | Pathogenic | X | 38271154 | 38271154 | T | G | criteria provided, single submitter | ClinGen:CA224831 |
single nucleotide variant | NM_000531.6(OTC):c.903A>T (p.Leu301Phe) | OTC | Pathogenic/Likely pathogenic | X | 38271150 | 38271150 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA224823,UniProtKB:P00480#VAR_012654 |