Duplication | NM_000018.4(ACADVL):c.1908dup (p.Ile637fs) | ACADVL | Likely pathogenic | 17 | 7128355 | 7128356 | G | GC | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter) | ACADVL | Likely pathogenic | 17 | 7128291 | 7128291 | C | T | reviewed by expert panel | ClinGen:CA16608642 |
single nucleotide variant | NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) | ACADVL | Likely pathogenic | 17 | 7128285 | 7128285 | C | T | reviewed by expert panel | ClinGen:CA251903,UniProtKB:P49748#VAR_000365,OMIM:609575.0003 |
Deletion | NM_000018.4(ACADVL):c.1765del (p.Ser588_Leu589insTer) | ACADVL | Likely pathogenic | 17 | 7128139 | 7128139 | TC | T | criteria provided, single submitter | ClinGen:CA16041877 |
Deletion | NM_000018.4(ACADVL):c.1752-2del | ACADVL | Likely pathogenic | 17 | 7128126 | 7128126 | CA | C | criteria provided, single submitter | ClinGen:CA658798687 |
single nucleotide variant | NM_000018.4(ACADVL):c.1751+2T>C | ACADVL | Likely pathogenic | 17 | 7128035 | 7128035 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000018.4(ACADVL):c.1751+1G>A | ACADVL | Likely pathogenic | 17 | 7128034 | 7128034 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000018.4(ACADVL):c.1730_1740del (p.Ala577fs) | ACADVL | Likely pathogenic | 17 | 7128010 | 7128020 | ATGCCATGGTGG | A | reviewed by expert panel | ClinGen:CA16043045 |
Duplication | NM_000018.4(ACADVL):c.1714dup (p.Ala572fs) | ACADVL | Likely pathogenic | 17 | 7127992 | 7127993 | C | CG | criteria provided, single submitter | - |
single nucleotide variant | NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) | ACADVL | Pathogenic/Likely pathogenic | 17 | 7127982 | 7127982 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA285290 |