single nucleotide variant | NM_000016.6(ACADM):c.1124T>C (p.Ile375Thr) | ACADM | Likely pathogenic | 1 | 76226985 | 76226985 | T | C | criteria provided, single submitter | ClinGen:CA252826,UniProtKB:P11310#VAR_000327,OMIM:607008.0004 |
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.1102_1105del (p.Ala369fs) | ACADM | Pathogenic/Likely pathogenic | 1 | 76226961 | 76226964 | CAGTT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA220166,OMIM:607008.0007 |
Deletion | NM_000016.6(ACADM):c.1073del (p.Lys358fs) | ACADM | Likely pathogenic | 1 | 76226932 | 76226932 | CA | C | criteria provided, single submitter | ClinGen:CA16040785 |
single nucleotide variant | NM_000016.6(ACADM):c.1055A>G (p.Tyr352Cys) | ACADM | Pathogenic/Likely pathogenic | 1 | 76226916 | 76226916 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA340818073 |
single nucleotide variant | NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile) | ACADM | Pathogenic/Likely pathogenic | 1 | 76226913 | 76226913 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA312184 |
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.1045C>T (p.Arg349Ter) | ACADM | Pathogenic/Likely pathogenic | 1 | 76226906 | 76226906 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA274261 |
single nucleotide variant | NM_000016.6(ACADM):c.1034A>T (p.Asp345Val) | ACADM | Pathogenic | 1 | 76226895 | 76226895 | A | T | criteria provided, single submitter | ClinGen:CA913267 |
single nucleotide variant | NM_000016.6(ACADM):c.1012C>T (p.Gln338Ter) | ACADM | Pathogenic | 1 | 76226873 | 76226873 | C | T | criteria provided, single submitter | ClinGen:CA10576241 |