single nucleotide variant | NM_000016.6(ACADM):c.600-18G>A | ACADM | Pathogenic/Likely pathogenic | 1 | 76211473 | 76211473 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA913154 |
single nucleotide variant | NM_000016.6(ACADM):c.599+1G>A | ACADM | Pathogenic/Likely pathogenic | 1 | 76205796 | 76205796 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576233 |
single nucleotide variant | NM_000016.6(ACADM):c.580A>G (p.Asn194Asp) | ACADM | Pathogenic/Likely pathogenic | 1 | 76205776 | 76205776 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA913137 |
single nucleotide variant | NM_000016.6(ACADM):c.464T>C (p.Met155Thr) | ACADM | Pathogenic/Likely pathogenic | 1 | 76200552 | 76200552 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576228 |
single nucleotide variant | NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr) | ACADM | Pathogenic/Likely pathogenic | 1 | 76199273 | 76199273 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576226,UniProtKB:P11310#VAR_015955 |
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 |
Duplication | NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer) | ACADM | Pathogenic/Likely pathogenic | 1 | 76194157 | 76194158 | A | ATTAGGAT | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576218 |
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 |
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 |
single nucleotide variant | NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) | ACADM | Pathogenic/Likely pathogenic | 1 | 76200531 | 76200531 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA303029 |