single nucleotide variant | NM_000016.6(ACADM):c.216+2T>G | ACADM | Pathogenic | 1 | 76198428 | 76198428 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA220175 |
single nucleotide variant | NM_000016.6(ACADM):c.157C>T (p.Arg53Cys) | ACADM | Pathogenic | 1 | 76198367 | 76198367 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA220173,UniProtKB:P11310#VAR_000317 |
single nucleotide variant | NM_000016.6(ACADM):c.454G>T (p.Glu152Ter) | ACADM | Likely pathogenic | 1 | 76200542 | 76200542 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000016.6(ACADM):c.950A>T (p.Gln317Leu) | ACADM | Likely pathogenic | 1 | 76226811 | 76226811 | A | T | criteria provided, single submitter | - |
Indel | NM_000016.6(ACADM):c.826_828delinsCC (p.Ala276fs) | ACADM | Likely pathogenic | 1 | 76215221 | 76215223 | GCT | CC | criteria provided, single submitter | - |
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.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 | - |
Duplication | NC_000001.10:g.(?_76211471)_(76211619_?)dup | ACADM | Likely pathogenic | 1 | 76211471 | 76211619 | na | na | criteria provided, single submitter | - |