NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)Likely pathogenic
not provided|Very long chain acyl-CoA dehydrogenase deficiency|ACADVL-related disorder
β
β
β
β2025β Residue 385
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)Likely pathogenic
not provided|Very long chain acyl-CoA dehydrogenase deficiency
β
β
β
β2025β Residue 443
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)Likely pathogenic
Very long chain acyl-CoA dehydrogenase deficiency|not provided
β
β
β
β2025β Residue 299
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)Likely pathogenic
Very long chain acyl-CoA dehydrogenase deficiency|not provided|Gastric cancer
β
β
β
β2025β Residue 511
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)Likely pathogenic
not provided|Very long chain acyl-CoA dehydrogenase deficiency|Malignant tumor of urinary bladder
β
β
β
β2025β Residue 478
NM_000018.4(ACADVL):c.1313G>A (p.Gly438Glu)Pathogenic
Very long chain acyl-CoA dehydrogenase deficiency
β
β
β
β2025β Residue 438
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs)Likely pathogenic
Very long chain acyl-CoA dehydrogenase deficiency
β
β
β
β2025β Residue 37
NM_000018.4(ACADVL):c.799_802del (p.Val267fs)Pathogenic
Very long chain acyl-CoA dehydrogenase deficiency
β
β
β
β2025β Residue 267
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer)Likely pathogenic
not provided|Very long chain acyl-CoA dehydrogenase deficiency|ACADVL-related disorder
β
β
β
β2025β Residue 602
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)Likely pathogenic
not provided|Very long chain acyl-CoA dehydrogenase deficiency
β
β
β
β2025β Residue 366
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)Likely pathogenic
not provided|Very long chain acyl-CoA dehydrogenase deficiency
β
β
β
β2025β Residue 463
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)Likely pathogenic
not specified|Very long chain acyl-CoA dehydrogenase deficiency
β
β
β
β2025β Residue 459
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)Likely pathogenic
Very long chain acyl-CoA dehydrogenase deficiency|ACADVL-related disorder
β
β
β
β2025β Residue 251
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)Likely pathogenic
Very long chain acyl-CoA dehydrogenase deficiency|not provided|ACADVL-related disorder|Inborn genetic diseases
β
β
β
β2024β Residue 278
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)Likely pathogenic
Very long chain acyl-CoA dehydrogenase deficiency|not provided|See cases
β
β
β
β2024β Residue 260
NM_000018.4(ACADVL):c.996dup (p.Ala333fs)Likely pathogenic
Very long chain acyl-CoA dehydrogenase deficiency
β
β
β
β2024β Residue 333
NM_000018.4(ACADVL):c.746G>A (p.Trp249Ter)Likely pathogenic
Very long chain acyl-CoA dehydrogenase deficiency
β
β
β
β2024β Residue 249
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter)Pathogenic
Very long chain acyl-CoA dehydrogenase deficiency|ACADVL-related disorder
β
β
β
β2024β Residue 319
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)Likely pathogenic
not provided|Very long chain acyl-CoA dehydrogenase deficiency
β
β
β
β2024β Residue 180
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)Likely pathogenic
not provided|Very long chain acyl-CoA dehydrogenase deficiency
β
β
β
β2024β Residue 456