Database of Pathogenic Variants
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Disease Detail
Disease Name
3-methylcrotonoyl-CoA carboxylase 2 deficiency
OMIM:210210
MedGen:C1859499
Associated Genes and Variants
MCCC2
NM_022132.4:c.1054_1055delGG
NM_022132.4:c.1624_1625dupGG
NM_022132.4:c.569A>G
NM_022132.4:c.592C>T
NM_022132.4:c.653_654delinsTT
NM_022132.4:c.838G>T