NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)Pathogenic
not provided|3-methylcrotonyl-CoA carboxylase 2 deficiency|Methylcrotonyl-CoA carboxylase deficiency|See cases|Inborn genetic diseases|MCCC2-related disorder
★★☆☆2026→ Residue 339
NM_022132.5(MCCC2):c.512-1G>APathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency
★★☆☆2026
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency|not provided|Methylcrotonyl-CoA carboxylase deficiency
★★☆☆2026→ Residue 99
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)Pathogenic
not provided|3-methylcrotonyl-CoA carboxylase 2 deficiency|Methylcrotonyl-CoA carboxylase deficiency|Inborn genetic diseases|MCCC2-related disorder
★★☆☆2026→ Residue 355
NM_022132.5(MCCC2):c.625-1G>ALikely pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency
★★☆☆2026
NM_022132.5(MCCC2):c.1208A>G (p.Asn403Ser)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency|not provided|Methylcrotonyl-CoA carboxylase deficiency|Nonpapillary renal cell carcinoma
★★☆☆2026→ Residue 403
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency
★★☆☆2026→ Residue 155
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency|not provided|Methylcrotonyl-CoA carboxylase deficiency
★★☆☆2026→ Residue 155
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency|Methylcrotonyl-CoA carboxylase deficiency
★★☆☆2026→ Residue 193
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter)Pathogenic
not provided|3-methylcrotonyl-CoA carboxylase 2 deficiency
★★☆☆2025→ Residue 72
NM_022132.5(MCCC2):c.100C>T (p.Gln34Ter)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency
★★☆☆2025→ Residue 34
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency|Inborn genetic diseases|not provided|Methylcrotonyl-CoA carboxylase deficiency|MCCC2-related disorder
★★☆☆2025→ Residue 475
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency|Methylcrotonyl-CoA carboxylase deficiency|MCCC2-related disorder
★★☆☆2025→ Residue 564
NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency|Methylcrotonyl-CoA carboxylase deficiency
★★☆☆2025→ Residue 61
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter)Pathogenic
not provided|3-methylcrotonyl-CoA carboxylase 2 deficiency
★★☆☆2025→ Residue 180
NM_022132.5(MCCC2):c.1488+2T>ALikely pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency
★★☆☆2025
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency|MCCC2-related disorder
★★☆☆2025→ Residue 59
NM_022132.5(MCCC2):c.739delPathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency
★★☆☆2025
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs)Pathogenic
not provided|3-methylcrotonyl-CoA carboxylase 2 deficiency
★★☆☆2025→ Residue 471
NM_022132.5(MCCC2):c.351_353del (p.Gly118del)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency|not provided
★★☆☆2025→ Residue 118