single nucleotide variant | NM_000016.6(ACADM):c.233T>C (p.Ile78Thr) | ACADM | Pathogenic | 1 | 76198554 | 76198554 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA275237,UniProtKB:P11310#VAR_015954 |
Deletion | NM_000016.6(ACADM):c.224del (p.Val75fs) | ACADM | Likely pathogenic | 1 | 76198545 | 76198545 | GT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040775 |
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.217-1G>A | ACADM | Pathogenic | 1 | 76198537 | 76198537 | G | A | criteria provided, single submitter | - |
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.216+1G>T | ACADM | Likely pathogenic | 1 | 76198427 | 76198427 | G | T | criteria provided, single submitter | ClinGen:CA16040774 |
single nucleotide variant | NM_000016.6(ACADM):c.199T>C (p.Tyr67His) | ACADM | Pathogenic/Likely pathogenic | 1 | 76198409 | 76198409 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA252836,UniProtKB:P11310#VAR_013698,OMIM:607008.0011 |
Deletion | NM_000016.6(ACADM):c.165del (p.Phe55fs) | ACADM | Pathogenic/Likely pathogenic | 1 | 76198373 | 76198373 | AT | A | criteria provided, multiple submitters, no conflicts | - |
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.118+1G>T | ACADM | Likely pathogenic | 1 | 76194174 | 76194174 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040772 |