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.67C>T (p.Gln23Ter) | ACADM | Pathogenic | 1 | 76194122 | 76194122 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000016.6(ACADM):c.454G>T (p.Glu152Ter) | ACADM | Likely pathogenic | 1 | 76200542 | 76200542 | G | T | criteria provided, single submitter | - |
Deletion | NM_000016.6(ACADM):c.927del (p.Phe309fs) | ACADM | Pathogenic | 1 | 76216213 | 76216213 | TC | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000016.6(ACADM):c.950A>T (p.Gln317Leu) | ACADM | Likely pathogenic | 1 | 76226811 | 76226811 | A | T | criteria provided, single submitter | - |
Indel | NM_000016.6(ACADM):c.794_803delinsTTTAA (p.Gly265_Ala268delinsValTer) | ACADM | Pathogenic | 1 | 76215189 | 76215198 | GTGACGGAGC | TTTAA | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000016.6(ACADM):c.165del (p.Phe55fs) | ACADM | Pathogenic/Likely pathogenic | 1 | 76198373 | 76198373 | AT | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NC_000001.11:g.(?_75761102)_(75762783_?)del | ACADM | Pathogenic | 1 | 76226787 | 76228468 | na | na | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_75541435)_(76074884_?)del | ACADM | Pathogenic | 1 | 76007120 | 76540569 | na | na | criteria provided, single submitter | - |
Indel | NM_000016.6(ACADM):c.826_828delinsCC (p.Ala276fs) | ACADM | Likely pathogenic | 1 | 76215221 | 76215223 | GCT | CC | criteria provided, single submitter | - |