single nucleotide variant | NM_000016.6(ACADM):c.913G>T (p.Glu305Ter) | ACADM | Likely pathogenic | 1 | 76216199 | 76216199 | G | T | criteria provided, single submitter | ClinGen:CA340817122 |
single nucleotide variant | NM_000016.6(ACADM):c.881G>C (p.Arg294Thr) | ACADM | Pathogenic/Likely pathogenic | 1 | 76216167 | 76216167 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA913234 |
single nucleotide variant | NM_000016.6(ACADM):c.850-2A>G | ACADM | Likely pathogenic | 1 | 76216134 | 76216134 | A | G | criteria provided, single submitter | ClinGen:CA273906 |
single nucleotide variant | NM_000016.6(ACADM):c.849+1G>A | ACADM | Pathogenic | 1 | 76215245 | 76215245 | G | A | criteria provided, single submitter | ClinGen:CA10581419 |
single nucleotide variant | NM_000016.6(ACADM):c.843A>T (p.Arg281Ser) | ACADM | Pathogenic/Likely pathogenic | 1 | 76215238 | 76215238 | A | T | criteria provided, multiple submitters, no conflicts | - |
Indel | NM_000016.6(ACADM):c.826_828delinsCC (p.Ala276fs) | ACADM | Likely pathogenic | 1 | 76215221 | 76215223 | GCT | CC | criteria provided, single submitter | - |
Deletion | NM_000016.6(ACADM):c.817_829del (p.Ala273fs) | ACADM | Pathogenic/Likely pathogenic | 1 | 76215210 | 76215222 | GTTGCAATGGGAGC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA913206 |
single nucleotide variant | NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) | ACADM | Pathogenic/Likely pathogenic | 1 | 76215194 | 76215194 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA252824,UniProtKB:P11310#VAR_000323,OMIM:607008.0003 |
Indel | NM_000016.6(ACADM):c.794_803delinsTTTAA (p.Gly265_Ala268delinsValTer) | ACADM | Pathogenic | 1 | 76215189 | 76215198 | GTGACGGAGC | TTTAA | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000016.6(ACADM):c.757G>A (p.Glu253Lys) | ACADM | Pathogenic/Likely pathogenic | 1 | 76215152 | 76215152 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA913200 |