Deletion | NC_000021.9:g.(?_43058125)_(43065715_?)del | CBS | Pathogenic | 21 | 44478235 | 44485825 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000071.3(CBS):c.1468-1G>A | CBS | Likely pathogenic | 21 | 44476998 | 44476998 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041995 |
Deletion | NM_000071.3(CBS):c.1545del (p.Ile516fs) | CBS | Likely pathogenic | 21 | 44476920 | 44476920 | TC | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000071.3(CBS):c.1552+1G>A | CBS | Likely pathogenic | 21 | 44476912 | 44476912 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000071.3(CBS):c.1553-2A>C | CBS | Likely pathogenic | 21 | 44474095 | 44474095 | T | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000071.3(CBS):c.1553-1G>C | CBS | Likely pathogenic | 21 | 44474094 | 44474094 | C | G | criteria provided, multiple submitters, no conflicts | - |
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.1576C>T (p.Gln526Ter) | CBS | Likely pathogenic | 21 | 44474070 | 44474070 | G | A | criteria provided, single submitter | - |
Deletion | NM_000071.3(CBS):c.1603_1604del (p.Thr535fs) | CBS | Likely pathogenic | 21 | 44474042 | 44474043 | GGT | G | criteria provided, single submitter | - |