single nucleotide variant | NM_000016.6(ACADM):c.757G>A (p.Glu253Lys) | ACADM | Pathogenic/Likely pathogenic | 1 | 76215152 | 76215152 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA913200 |
single nucleotide variant | NM_000016.6(ACADM):c.742A>G (p.Arg248Gly) | ACADM | Pathogenic | 1 | 76215137 | 76215137 | A | G | criteria provided, single submitter | ClinGen:CA10576237 |
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.734C>T (p.Ser245Leu) | ACADM | Pathogenic/Likely pathogenic | 1 | 76215129 | 76215129 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA220186,UniProtKB:P11310#VAR_013699,OMIM:607008.0012 |
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 |
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 | - |
Duplication | NC_000001.10:g.(?_76211471)_(76211619_?)dup | ACADM | Likely pathogenic | 1 | 76211471 | 76211619 | na | na | 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.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.698T>C (p.Ile233Thr) | ACADM | Pathogenic/Likely pathogenic | 1 | 76211589 | 76211589 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA312175 |