single nucleotide variant | NM_000016.6(ACADM):c.577A>G (p.Thr193Ala) | ACADM | Likely pathogenic | 1 | 76205773 | 76205773 | A | G | criteria provided, single submitter | ClinGen:CA252832,UniProtKB:P11310#VAR_000320,OMIM:607008.0010 |
single nucleotide variant | NM_000016.6(ACADM):c.583G>A (p.Gly195Arg) | ACADM | Pathogenic/Likely pathogenic | 1 | 76205779 | 76205779 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA220181,UniProtKB:P11310#VAR_000321,OMIM:607008.0009 |
Deletion | NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs) | ACADM | Pathogenic/Likely pathogenic | 1 | 76226961 | 76226964 | CAGTT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA220166,OMIM:607008.0007 |
single nucleotide variant | NM_000016.6(ACADM):c.447G>A (p.Met149Ile) | ACADM | Pathogenic/Likely pathogenic | 1 | 76200535 | 76200535 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA252830,UniProtKB:P11310#VAR_000319,OMIM:607008.0006 |
single nucleotide variant | NM_000016.6(ACADM):c.1124T>C (p.Ile375Thr) | ACADM | Likely pathogenic | 1 | 76226985 | 76226985 | T | C | criteria provided, single submitter | ClinGen:CA252826,UniProtKB:P11310#VAR_000327,OMIM:607008.0004 |
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 |
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 |