single nucleotide variant | NM_000531.5(OTC):c.-142G>A | OTC | Likely pathogenic | X | 38211808 | 38211808 | G | A | criteria provided, single submitter | ClinGen:CA658799698 |
single nucleotide variant | NM_000531.6(OTC):c.2T>C (p.Met1Thr) | OTC | Pathogenic | X | 38211951 | 38211951 | T | C | criteria provided, single submitter | ClinGen:CA224547 |
single nucleotide variant | NM_000531.6(OTC):c.3G>A (p.Met1Ile) | OTC | Pathogenic | X | 38211952 | 38211952 | G | A | criteria provided, single submitter | ClinGen:CA224584 |
Deletion | NM_000531.6(OTC):c.29_32del (p.Asn10fs) | OTC | Pathogenic | X | 38211976 | 38211979 | TAAAC | T | criteria provided, single submitter | ClinGen:CA224540 |
single nucleotide variant | NM_000531.6(OTC):c.67C>T (p.Arg23Ter) | OTC | Pathogenic | X | 38212016 | 38212016 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA224742 |
single nucleotide variant | NM_000531.6(OTC):c.77G>A (p.Arg26Gln) | OTC | Pathogenic/Likely pathogenic | X | 38212026 | 38212026 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA255647,UniProtKB:P00480#VAR_004843,OMIM:300461.0008 |
single nucleotide variant | NM_000531.6(OTC):c.77+1G>A | OTC | Pathogenic | X | 38212027 | 38212027 | G | A | criteria provided, single submitter | ClinGen:CA224773 |
Duplication | NM_000531.6(OTC):c.77+2dup | OTC | Likely pathogenic | X | 38212027 | 38212028 | G | GT | criteria provided, single submitter | - |
single nucleotide variant | NM_000531.6(OTC):c.118C>T (p.Arg40Cys) | OTC | Pathogenic/Likely pathogenic | X | 38226584 | 38226584 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA090910,UniProtKB:P00480#VAR_004845,OMIM:300461.0028 |
single nucleotide variant | NM_000531.6(OTC):c.119G>A (p.Arg40His) | OTC | Pathogenic/Likely pathogenic | X | 38226585 | 38226585 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA224454,UniProtKB:P00480#VAR_004846,OMIM:300461.0029 |