single nucleotide variant | NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) | MMACHC | Pathogenic | 1 | 45973222 | 45973222 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA272838,OMIM:609831.0008 |
single nucleotide variant | NM_015506.3(MMACHC):c.276G>A (p.Glu92=) | MMACHC | Likely pathogenic | 1 | 45973222 | 45973222 | G | A | criteria provided, single submitter | ClinGen:CA272840,OMIM:609831.0009 |
Duplication | NM_015506.3(MMACHC):c.285dup (p.Glu96fs) | MMACHC | Pathogenic/Likely pathogenic | 1 | 45973891 | 45973892 | C | CA | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter) | MMACHC | Pathogenic | 1 | 45973899 | 45973899 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA827696 |
Deletion | NM_015506.3(MMACHC):c.310_313del (p.Asp104fs) | MMACHC | Pathogenic/Likely pathogenic | 1 | 45973915 | 45973918 | GCTGA | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter) | MMACHC | Pathogenic | 1 | 45973922 | 45973922 | C | G | criteria provided, single submitter | - |
Deletion | NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) | MMACHC | Pathogenic | 1 | 45973933 | 45973936 | CCCAA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA312742 |
single nucleotide variant | NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) | MMACHC | Pathogenic | 1 | 45973938 | 45973938 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA251789,OMIM:609831.0004 |
single nucleotide variant | NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) | MMACHC | Pathogenic/Likely pathogenic | 1 | 45973954 | 45973954 | T | C | criteria provided, multiple submitters, no conflicts | OMIM:609831.0002,ClinGen:CA251786,UniProtKB:Q9Y4U1#VAR_024771 |
Deletion | NM_015506.3(MMACHC):c.352del (p.Gln118fs) | MMACHC | Pathogenic | 1 | 45973957 | 45973957 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA827711 |