single nucleotide variant | NM_000016.6(ACADM):c.287-2A>G | ACADM | Likely pathogenic | 1 | 76199211 | 76199211 | A | G | criteria provided, single submitter | ClinGen:CA16043645 |
single nucleotide variant | NM_000016.6(ACADM):c.739A>G (p.Thr247Ala) | ACADM | Likely pathogenic | 1 | 76215134 | 76215134 | A | G | criteria provided, single submitter | ClinGen:CA16042329 |
single nucleotide variant | NM_000016.6(ACADM):c.1195-2A>T | ACADM | Likely pathogenic | 1 | 76228375 | 76228375 | A | T | criteria provided, single submitter | ClinGen:CA16040787 |
single nucleotide variant | NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter) | ACADM | Pathogenic/Likely pathogenic | 1 | 76227011 | 76227011 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA913280 |
Duplication | NM_000016.6(ACADM):c.1114dup (p.Ala372fs) | ACADM | Pathogenic | 1 | 76226974 | 76226975 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040786 |
Deletion | NM_000016.6(ACADM):c.1073del (p.Lys358fs) | ACADM | Likely pathogenic | 1 | 76226932 | 76226932 | CA | C | criteria provided, single submitter | ClinGen:CA16040785 |
Deletion | NM_000016.6(ACADM):c.1045del (p.Arg349fs) | ACADM | Likely pathogenic | 1 | 76226906 | 76226906 | TC | T | criteria provided, single submitter | ClinGen:CA16040784 |
single nucleotide variant | NM_000016.6(ACADM):c.959C>A (p.Ser320Ter) | ACADM | Pathogenic/Likely pathogenic | 1 | 76226820 | 76226820 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040783 |
single nucleotide variant | NM_000016.6(ACADM):c.949C>T (p.Gln317Ter) | ACADM | Likely pathogenic | 1 | 76226810 | 76226810 | C | T | criteria provided, single submitter | ClinGen:CA16040781 |
single nucleotide variant | NM_000016.6(ACADM):c.709-1G>A | ACADM | Pathogenic/Likely pathogenic | 1 | 76215103 | 76215103 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040780 |