Deletion | NM_000016.6(ACADM):c.989_1010del (p.Val330fs) | ACADM | Pathogenic | 1 | 76226850 | 76226871 | GTTGAACTAGCTAGAATGAGTTA | G | criteria provided, single submitter | ClinGen:CA658656942 |
Duplication | NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter) | ACADM | Pathogenic/Likely pathogenic | 1 | 76226858 | 76226859 | G | GCTAGAATGAGTTA | criteria provided, multiple submitters, no conflicts | ClinGen:CA252823,OMIM:607008.0002 |
single nucleotide variant | NM_000016.6(ACADM):c.985A>C (p.Lys329Gln) | ACADM | Pathogenic | 1 | 76226846 | 76226846 | A | C | criteria provided, single submitter | ClinGen:CA10576240 |
Deletion | NM_000016.6(ACADM):c.984del (p.Met328fs) | ACADM | Pathogenic/Likely pathogenic | 1 | 76226845 | 76226845 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA913260 |
single nucleotide variant | NM_000016.6(ACADM):c.977T>C (p.Met326Thr) | ACADM | Pathogenic/Likely pathogenic | 1 | 76226838 | 76226838 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA274268,UniProtKB:P11310#VAR_000324 |
single nucleotide variant | NM_000016.6(ACADM):c.959C>A (p.Ser320Ter) | ACADM | Pathogenic/Likely pathogenic | 1 | 76226820 | 76226820 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040783 |
single nucleotide variant | NM_000016.6(ACADM):c.950A>T (p.Gln317Leu) | ACADM | Likely pathogenic | 1 | 76226811 | 76226811 | A | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000016.6(ACADM):c.949C>T (p.Gln317Ter) | ACADM | Likely pathogenic | 1 | 76226810 | 76226810 | C | T | criteria provided, single submitter | ClinGen:CA16040781 |
single nucleotide variant | NM_000016.6(ACADM):c.946-2A>C | ACADM | Pathogenic | 1 | 76226805 | 76226805 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA913256 |
Deletion | NM_000016.6(ACADM):c.927del (p.Phe309fs) | ACADM | Pathogenic | 1 | 76216213 | 76216213 | TC | T | criteria provided, multiple submitters, no conflicts | - |