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.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.217-1G>A | ACADM | Pathogenic | 1 | 76198537 | 76198537 | G | A | criteria provided, single submitter | - |
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 |
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.233T>C (p.Ile78Thr) | ACADM | Pathogenic | 1 | 76198554 | 76198554 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA275237,UniProtKB:P11310#VAR_015954 |
Duplication | NM_000016.6(ACADM):c.244dup (p.Trp82fs) | ACADM | Pathogenic | 1 | 76198564 | 76198565 | C | CT | criteria provided, multiple submitters, no conflicts | ClinGen:CA274151 |
single nucleotide variant | NM_000016.6(ACADM):c.250C>T (p.Leu84Phe) | ACADM | Pathogenic/Likely pathogenic | 1 | 76198571 | 76198571 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA913006 |
single nucleotide variant | NM_000016.6(ACADM):c.253G>A (p.Gly85Ser) | ACADM | Likely pathogenic | 1 | 76198574 | 76198574 | G | A | criteria provided, single submitter | ClinGen:CA220176 |
single nucleotide variant | NM_000016.6(ACADM):c.286+2T>G | ACADM | Likely pathogenic | 1 | 76198609 | 76198609 | T | G | criteria provided, single submitter | - |