single nucleotide variant | NM_000071.3(CBS):c.1358+1G>A | CBS | Pathogenic/Likely pathogenic | 21 | 44478943 | 44478943 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA274355 |
Deletion | NM_000071.3(CBS):c.1566del (p.Lys523fs) | CBS | Pathogenic/Likely pathogenic | 21 | 44474080 | 44474080 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA273951 |
single nucleotide variant | NM_000071.3(CBS):c.572C>T (p.Thr191Met) | CBS | Pathogenic/Likely pathogenic | 21 | 44485591 | 44485591 | G | A | criteria provided, multiple submitters, no conflicts | UniProtKB:P35520#VAR_008068,OMIM:613381.0016,ClinGen:CA113904 |
single nucleotide variant | NM_000071.3(CBS):c.1058C>T (p.Thr353Met) | CBS | Pathogenic/Likely pathogenic | 21 | 44480638 | 44480638 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA113902,UniProtKB:P35520#VAR_008082,OMIM:613381.0015 |
single nucleotide variant | NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) | CBS | Pathogenic/Likely pathogenic | 21 | 44478972 | 44478972 | C | T | criteria provided, multiple submitters, no conflicts | UniProtKB:P35520#VAR_002192,OMIM:613381.0010,ClinGen:CA113893 |
single nucleotide variant | NM_000071.3(CBS):c.797G>A (p.Arg266Lys) | CBS | Pathogenic/Likely pathogenic | 21 | 44484041 | 44484041 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA113891,UniProtKB:P35520#VAR_008074,OMIM:613381.0009 |
single nucleotide variant | NM_000071.3(CBS):c.430G>A (p.Glu144Lys) | CBS | Pathogenic/Likely pathogenic | 21 | 44486374 | 44486374 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA113885,UniProtKB:P35520#VAR_002177,OMIM:613381.0006 |
single nucleotide variant | NM_000071.3(CBS):c.341C>T (p.Ala114Val) | CBS | Pathogenic/Likely pathogenic | 21 | 44486463 | 44486463 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA113878,UniProtKB:P35520#VAR_002174,OMIM:613381.0003 |
single nucleotide variant | NM_000071.3(CBS):c.434C>T (p.Pro145Leu) | CBS | Pathogenic/Likely pathogenic | 21 | 44486370 | 44486370 | G | A | criteria provided, multiple submitters, no conflicts | OMIM:613381.0002,ClinGen:CA113876,UniProtKB:P35520#VAR_002178 |
single nucleotide variant | NM_000071.3(CBS):c.1223+1G>T | CBS | Pathogenic | 21 | 44479335 | 44479335 | C | A | criteria provided, single submitter | - |