single nucleotide variant | NM_015506.3(MMACHC):c.1A>G (p.Met1Val) | MMACHC | Pathogenic | 1 | 45966005 | 45966005 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA827593 |
single nucleotide variant | NM_015506.3(MMACHC):c.2T>G (p.Met1Arg) | MMACHC | Pathogenic/Likely pathogenic | 1 | 45966006 | 45966006 | T | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_015506.3(MMACHC):c.2T>C (p.Met1Thr) | MMACHC | Likely pathogenic | 1 | 45966006 | 45966006 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) | MMACHC | Pathogenic | 1 | 45966007 | 45966007 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_015506.3(MMACHC):c.72C>A (p.Tyr24Ter) | MMACHC | Likely pathogenic | 1 | 45966076 | 45966076 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) | MMACHC | Pathogenic | 1 | 45966084 | 45966084 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_015506.3(MMACHC):c.81+2T>G | MMACHC | Pathogenic/Likely pathogenic | 1 | 45966087 | 45966087 | T | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_015506.3(MMACHC):c.82-1G>A | MMACHC | Pathogenic/Likely pathogenic | 1 | 45973027 | 45973027 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter) | MMACHC | Pathogenic/Likely pathogenic | 1 | 45973036 | 45973036 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) | MMACHC | Pathogenic | 1 | 45973163 | 45973163 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA312728 |