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.828+1G>A | CBS | Pathogenic/Likely pathogenic | 21 | 44484009 | 44484009 | C | T | criteria provided, multiple submitters, no conflicts | - |
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 | - |
Deletion | NM_000071.3(CBS):c.1221del (p.Trp408fs) | CBS | Pathogenic/Likely pathogenic | 21 | 44479338 | 44479338 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658684242 |
single nucleotide variant | NM_000071.3(CBS):c.737-1G>C | CBS | Pathogenic/Likely pathogenic | 21 | 44484102 | 44484102 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA321094412 |
single nucleotide variant | NM_000071.3(CBS):c.816T>A (p.Cys272Ter) | CBS | Pathogenic/Likely pathogenic | 21 | 44484022 | 44484022 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA321094214 |
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 |
Deletion | NM_000071.3(CBS):c.402del (p.Thr135fs) | CBS | Pathogenic/Likely pathogenic | 21 | 44486402 | 44486402 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042006 |
single nucleotide variant | NM_000071.3(CBS):c.442G>A (p.Gly148Arg) | CBS | Pathogenic/Likely pathogenic | 21 | 44486362 | 44486362 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042005 |
single nucleotide variant | NM_000071.3(CBS):c.676G>A (p.Ala226Thr) | CBS | Pathogenic/Likely pathogenic | 21 | 44485373 | 44485373 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042003 |