Duplication | NM_000071.3(CBS):c.19dup (p.Gln7fs) | CBS | Pathogenic | 21 | 44492284 | 44492285 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042010 |
Deletion | NM_000071.3(CBS):c.28del (p.Val10fs) | CBS | Pathogenic/Likely pathogenic | 21 | 44492276 | 44492276 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10603779 |
Deletion | NM_000071.3(CBS):c.18_36del (p.Glu9fs) | CBS | Likely pathogenic | 21 | 44492268 | 44492286 | TGGGCCCCACTTCTGCCTGG | T | criteria provided, single submitter | ClinGen:CA16042009 |
single nucleotide variant | NM_000071.3(CBS):c.146C>T (p.Pro49Leu) | CBS | Pathogenic/Likely pathogenic | 21 | 44492158 | 44492158 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA325105,UniProtKB:P35520#VAR_008049 |
Deletion | NM_000071.3(CBS):c.153_165del (p.Arg51fs) | CBS | Pathogenic/Likely pathogenic | 21 | 44492139 | 44492151 | GCTGCCAGGTGCAC | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000071.3(CBS):c.209+1G>A | CBS | Pathogenic/Likely pathogenic | 21 | 44492094 | 44492094 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000071.3(CBS):c.209+1G>C | CBS | Pathogenic/Likely pathogenic | 21 | 44492094 | 44492094 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042008 |
single nucleotide variant | NM_000071.3(CBS):c.209+2T>C | CBS | Likely pathogenic | 21 | 44492093 | 44492093 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000071.3(CBS):c.253G>A (p.Gly85Arg) | CBS | Pathogenic | 21 | 44488682 | 44488682 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA319849,UniProtKB:P35520#VAR_008051 |
single nucleotide variant | NM_000071.3(CBS):c.302T>C (p.Leu101Pro) | CBS | Pathogenic/Likely pathogenic | 21 | 44488633 | 44488633 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA274473,UniProtKB:P35520#VAR_021791 |