NM_002225.5(IVD):c.932C>T (p.Ala311Val)Pathogenic
not provided|Isovaleryl-CoA dehydrogenase deficiency|Inborn genetic diseases|IVD-related disorder
★★☆☆2026→ Residue 311
NM_002225.5(IVD):c.287-1G>APathogenic
Isovaleryl-CoA dehydrogenase deficiency
★★☆☆2026
NM_002225.5(IVD):c.286+2T>CPathogenic
Isovaleryl-CoA dehydrogenase deficiency
★★☆☆2026
NM_002225.5(IVD):c.618del (p.Ile206fs)Pathogenic
Isovaleryl-CoA dehydrogenase deficiency|not provided
★★☆☆2026→ Residue 206
NM_002225.5(IVD):c.890C>T (p.Ala297Val)Pathogenic
Isovaleryl-CoA dehydrogenase deficiency
★★☆☆2026→ Residue 297
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)Pathogenic
not provided|Isovaleryl-CoA dehydrogenase deficiency
★★☆☆2026→ Residue 392
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)Pathogenic
Isovaleryl-CoA dehydrogenase deficiency|Inborn genetic diseases|Cervical cancer
★★☆☆2026→ Residue 395
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)Likely pathogenic
not provided|Isovaleryl-CoA dehydrogenase deficiency
★★☆☆2026→ Residue 236
NM_002225.5(IVD):c.1112T>C (p.Val371Ala)Pathogenic
Isovaleryl-CoA dehydrogenase deficiency
★★☆☆2026→ Residue 371
NM_002225.5(IVD):c.381del (p.Ala128fs)Pathogenic
Isovaleryl-CoA dehydrogenase deficiency|Inborn genetic diseases
★★☆☆2026→ Residue 128
NM_002225.5(IVD):c.109G>A (p.Asp37Asn)Pathogenic
Isovaleryl-CoA dehydrogenase deficiency
★★☆☆2026→ Residue 37
NM_002225.5(IVD):c.870dup (p.Pro291fs)Pathogenic
Isovaleryl-CoA dehydrogenase deficiency
★★☆☆2026→ Residue 291
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)Pathogenic
Isovaleryl-CoA dehydrogenase deficiency|not provided|IVD-related disorder
★★☆☆2026→ Residue 50
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)Pathogenic
Isovaleryl-CoA dehydrogenase deficiency
★★☆☆2025→ Residue 289
NM_002225.5(IVD):c.848A>G (p.Glu283Gly)Likely pathogenic
Isovaleryl-CoA dehydrogenase deficiency
★★☆☆2025→ Residue 283
NM_002225.5(IVD):c.457-3_457-2delinsGGPathogenic
Isovaleryl-CoA dehydrogenase deficiency
★★☆☆2025
NM_002225.5(IVD):c.287-2A>GPathogenic
Isovaleryl-CoA dehydrogenase deficiency
★★☆☆2025
NM_002225.5(IVD):c.349C>T (p.Arg117Ter)Pathogenic
Isovaleryl-CoA dehydrogenase deficiency|not provided
★★☆☆2025→ Residue 117
NM_002225.5(IVD):c.879-2A>GPathogenic
Isovaleryl-CoA dehydrogenase deficiency
★★☆☆2025
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)Pathogenic
not provided|Isovaleryl-CoA dehydrogenase deficiency|IVD-related disorder|Inborn genetic diseases
★★☆☆2025→ Residue 120