single nucleotide variant | NM_000071.3(CBS):c.346G>A (p.Gly116Arg) | CBS | Pathogenic/Likely pathogenic | 21 | 44486458 | 44486458 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA273957,UniProtKB:P35520#VAR_008053 |
single nucleotide variant | NM_000071.3(CBS):c.362G>A (p.Arg121His) | CBS | Pathogenic/Likely pathogenic | 21 | 44486442 | 44486442 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA274172,UniProtKB:P35520#VAR_008055 |
Deletion | NM_000071.3(CBS):c.667-14_667-7del | CBS | Pathogenic/Likely pathogenic | 21 | 44485389 | 44485396 | TAGAAAGAG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA274115 |
Deletion | NM_000071.3(CBS):c.689del (p.Leu230fs) | CBS | Pathogenic/Likely pathogenic | 21 | 44485360 | 44485360 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA274011 |
single nucleotide variant | NM_000071.3(CBS):c.1039G>A (p.Gly347Ser) | CBS | Pathogenic/Likely pathogenic | 21 | 44482421 | 44482421 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA273978 |
single nucleotide variant | NM_000071.3(CBS):c.1136G>A (p.Arg379Gln) | CBS | Pathogenic/Likely pathogenic | 21 | 44480560 | 44480560 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA274005,UniProtKB:P35520#VAR_021801 |
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.1006C>T (p.Arg336Cys) | CBS | Pathogenic | 21 | 44482454 | 44482454 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA274154,UniProtKB:P35520#VAR_002188 |
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 |