single nucleotide variant | NM_000016.6(ACADM):c.709-2A>C | ACADM | Pathogenic/Likely pathogenic | 1 | 76215102 | 76215102 | A | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000016.6(ACADM):c.286+2T>G | ACADM | Likely pathogenic | 1 | 76198609 | 76198609 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000016.6(ACADM):c.30+2T>C | ACADM | Pathogenic/Likely pathogenic | 1 | 76190504 | 76190504 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000016.6(ACADM):c.3G>C (p.Met1Ile) | ACADM | Pathogenic/Likely pathogenic | 1 | 76190475 | 76190475 | G | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000016.6(ACADM):c.1194+1G>A | ACADM | Pathogenic | 1 | 76227056 | 76227056 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000016.6(ACADM):c.843A>T (p.Arg281Ser) | ACADM | Pathogenic/Likely pathogenic | 1 | 76215238 | 76215238 | A | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000016.6(ACADM):c.1195-1G>C | ACADM | Likely pathogenic | 1 | 76228376 | 76228376 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000016.6(ACADM):c.708+2T>G | ACADM | Likely pathogenic | 1 | 76211601 | 76211601 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000016.6(ACADM):c.469-2A>C | ACADM | Likely pathogenic | 1 | 76205663 | 76205663 | A | C | criteria provided, single submitter | - |
Deletion | NM_000016.6(ACADM):c.47del (p.Ser16fs) | ACADM | Pathogenic | 1 | 76194102 | 76194102 | TC | T | criteria provided, single submitter | ClinGen:CA658795477 |