Duplication | NM_000071.3(CBS):c.371_374dup (p.Met126fs) | CBS | Likely pathogenic | 21 | 44486429 | 44486430 | C | CCGCA | criteria provided, single submitter | - |
Indel | NM_000071.3(CBS):c.403_404delinsG (p.Thr135fs) | CBS | Likely pathogenic | 21 | 44486400 | 44486401 | GT | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000071.3(CBS):c.829-1G>C | CBS | Likely pathogenic | 21 | 44483189 | 44483189 | C | G | 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 | - |
Deletion | NM_000071.3(CBS):c.1009_1012del (p.Arg336_Met337insTer) | CBS | Likely pathogenic | 21 | 44482448 | 44482451 | AGCAT | A | criteria provided, single submitter | - |
Deletion | NM_000071.3(CBS):c.1219_1223+8del | CBS | Likely pathogenic | 21 | 44479328 | 44479340 | CGGTCTTACCAGGG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000071.3(CBS):c.1358+2T>C | CBS | Likely pathogenic | 21 | 44478942 | 44478942 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000071.3(CBS):c.572C>A (p.Thr191Lys) | CBS | Likely pathogenic | 21 | 44485591 | 44485591 | G | T | criteria provided, single submitter | ClinGen:CA410601079 |
Deletion | NM_000071.3(CBS):c.1087del (p.Glu363fs) | CBS | Likely pathogenic | 21 | 44480609 | 44480609 | TC | T | criteria provided, single submitter | ClinGen:CA16621013 |
single nucleotide variant | NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr) | CBS | Likely pathogenic | 21 | 44480587 | 44480587 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16621012 |