1.1.99.2	A140P	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	A184V	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	A406V	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	A62D	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	C179R	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	DELTA-exon9	mutated protein is inactive and abnormally processed	678483	
1.1.99.2	E176D	mutated protein is inactive and abnormally processed	678483	
1.1.99.2	E176D	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	E176G	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	E268X	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	E336K	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	G116D	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	G128X	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	G156V	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	G211D	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	G211V	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	G260A	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	G260V	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	G55D	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	G57R	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	H434P	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	H98R	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	H98Y	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	K246N	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	K81E	mutated protein is inactive and abnormally processed	678483	
1.1.99.2	K81E	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	additional information	A320G, G607T, naturally occurring mutations found in L-2-hydroxyglutaric aciduria affected patients	657168	
1.1.99.2	P302L	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	P441E	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	Q197X	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	Q204X	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	R251X	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	R277X	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	R282Q	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	R282W	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	R335X	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	R70X	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	S263L	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	S263X	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	S440Y	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	V296E	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	Y153X	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	Y195C	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	Y301X	the mutation is associated with L-2-hydroxyglutaric aciduria	712128	
1.1.99.2	Y367C	the mutation is associated with L-2-hydroxyglutaric aciduria	712128