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 |
single nucleotide variant | NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln) | ACADVL | Likely pathogenic | 17 | 7126518 | 7126518 | A | C | reviewed by expert panel | ClinGen:CA251906,UniProtKB:P49748#VAR_000352,OMIM:609575.0008 |
single nucleotide variant | NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu) | ACADVL | Likely pathogenic | 17 | 7127326 | 7127326 | T | C | reviewed by expert panel | ClinGen:CA251907,UniProtKB:P49748#VAR_010103,OMIM:609575.0012 |
single nucleotide variant | NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) | ACADVL | Likely pathogenic | 17 | 7127026 | 7127026 | G | A | reviewed by expert panel | ClinGen:CA251908,OMIM:609575.0013 |
single nucleotide variant | NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) | ACADVL | Likely pathogenic | 17 | 7127303 | 7127303 | G | A | reviewed by expert panel | ClinGen:CA251910,UniProtKB:P49748#VAR_000355,OMIM:609575.0010,OMIM:609575.0014 |
single nucleotide variant | NM_000018.4(ACADVL):c.1679-6G>A | ACADVL | Likely pathogenic | 17 | 7127955 | 7127955 | G | A | reviewed by expert panel | ClinGen:CA312281 |
Duplication | NM_000018.4(ACADVL):c.1389dup (p.Thr464fs) | ACADVL | Likely pathogenic | 17 | 7127339 | 7127340 | A | AG | reviewed by expert panel | ClinGen:CA220196 |
single nucleotide variant | NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln) | ACADVL | Likely pathogenic | 17 | 7127360 | 7127360 | G | A | reviewed by expert panel | ClinGen:CA220197,UniProtKB:P49748#VAR_000361 |
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.753-2A>C | ACADVL | Likely pathogenic | 17 | 7125494 | 7125494 | A | C | reviewed by expert panel | ClinGen:CA220220 |