single nucleotide variant | NM_000016.6(ACADM):c.913G>T (p.Glu305Ter) | ACADM | Likely pathogenic | 1 | 76216199 | 76216199 | G | T | criteria provided, single submitter | ClinGen:CA340817122 |
single nucleotide variant | NM_000016.6(ACADM):c.708+1G>A | ACADM | Likely pathogenic | 1 | 76211600 | 76211600 | G | A | criteria provided, single submitter | ClinGen:CA340816332 |
single nucleotide variant | NM_000016.6(ACADM):c.218A>G (p.Tyr73Cys) | ACADM | Likely pathogenic | 1 | 76198539 | 76198539 | A | G | criteria provided, single submitter | ClinGen:CA16603753 |
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 |
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.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.387+1G>T | ACADM | Likely pathogenic | 1 | 76199314 | 76199314 | G | T | criteria provided, single submitter | ClinGen:CA16040778 |