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.1135C>T (p.Arg379Trp) | CBS | Pathogenic/Likely pathogenic | 21 | 44480561 | 44480561 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA320740,UniProtKB:P35520#VAR_046936 |
single nucleotide variant | NM_000071.3(CBS):c.1126G>A (p.Asp376Asn) | CBS | Pathogenic | 21 | 44480570 | 44480570 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000071.3(CBS):c.1111G>A (p.Val371Met) | CBS | Pathogenic/Likely pathogenic | 21 | 44480585 | 44480585 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA320805,UniProtKB:P35520#VAR_002190 |
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 |
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.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.1051G>C (p.Gly351Arg) | CBS | Likely pathogenic | 21 | 44480645 | 44480645 | C | G | criteria provided, single submitter | ClinGen:CA320282 |
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 |
Deletion | NM_000071.3(CBS):c.1009_1012del (p.Arg336_Met337insTer) | CBS | Likely pathogenic | 21 | 44482448 | 44482451 | AGCAT | A | criteria provided, single submitter | - |