single nucleotide variant | NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) | ACADVL | Pathogenic | 17 | 7127311 | 7127311 | C | T | reviewed by expert panel | ClinGen:CA274997 |
Deletion | NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) | ACADVL | Likely pathogenic | 17 | 7125994 | 7125995 | CCT | C | reviewed by expert panel | ClinGen:CA274249 |
single nucleotide variant | NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter) | ACADVL | Pathogenic/Likely pathogenic | 17 | 7125333 | 7125333 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA274078 |
single nucleotide variant | NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter) | ACADVL | Likely pathogenic | 17 | 7124333 | 7124333 | C | T | reviewed by expert panel | ClinGen:CA274436 |
single nucleotide variant | NM_000018.4(ACADVL):c.1532+1G>A | ACADVL | Pathogenic | 17 | 7127563 | 7127563 | G | A | criteria provided, single submitter | ClinGen:CA273297 |
single nucleotide variant | NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter) | ACADVL | Pathogenic | 17 | 7123443 | 7123443 | C | A | reviewed by expert panel | ClinGen:CA233425 |
single nucleotide variant | NM_000018.4(ACADVL):c.753-2A>C | ACADVL | Likely pathogenic | 17 | 7125494 | 7125494 | A | C | reviewed by expert panel | ClinGen:CA220220 |
single nucleotide variant | NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) | ACADVL | Likely pathogenic | 17 | 7125312 | 7125312 | G | A | reviewed by expert panel | ClinGen:CA220218 |
single nucleotide variant | NM_000018.4(ACADVL):c.520G>A (p.Val174Met) | ACADVL | Pathogenic/Likely pathogenic | 17 | 7124899 | 7124899 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA220213,UniProtKB:P49748#VAR_000334 |
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 |